# annotation

uniprotID: Q9NQT4
geneSymbol: EXOSC5
reactome: R-HSA-380994;R-HSA-429958;R-HSA-450385;R-HSA-450513;R-HSA-450604;R-HSA-6791226;
pdb: 2NN6;6D6Q;6D6R;6H25;
length: 235
go: ENSG00000077348;
snps: rs10853751 rs34500671
name:
Exosome complex component RRP46 (Chronic myelogenous leukemia tumor antigen 28) (Exosome component 5) (Ribosomal RNA-processing protein 46) (p12B)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic exosome (RNase complex) [GO:0000177]; cytosol [GO:0005829]; exosome (RNase complex) [GO:0000178]; nuclear exosome (RNase complex) [GO:0000176]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptionally active chromatin [GO:0035327]; 3'-5'-exoribonuclease activity [GO:0000175]; RNA binding [GO:0003723]; defense response to virus [GO:0051607]; DNA deamination [GO:0045006]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; nuclear mRNA surveillance [GO:0071028]; nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' [GO:0034427]; polyadenylation-dependent snoRNA 3'-end processing [GO:0071051]; regulation of mRNA stability [GO:0043488]; rRNA catabolic process [GO:0016075]; rRNA processing [GO:0006364]; U4 snRNA 3'-end processing [GO:0034475]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11812149}. Cytoplasm {ECO:0000305|PubMed:11812149}. Nucleus {ECO:0000305|PubMed:11812149}.


uniprotID: O00167
geneSymbol: EYA2
reactome: R-HSA-5693565;
pdb: 3GEB;3HB0;3HB1;4EGC;
name: Eyes absent homolog 2 (EC 3.1.3.48)
length: 538
go: ENSG00000064655;
snps: rs2275596 rs866936
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; magnesium ion binding [GO:0000287]; protein tyrosine phosphatase activity [GO:0004725]; transcription factor binding [GO:0008134]; anatomical structure development [GO:0048856]; DNA repair [GO:0006281]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; histone dephosphorylation [GO:0016576]; mesodermal cell fate specification [GO:0007501]; mitochondrial outer membrane permeabilization [GO:0097345]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; positive regulation of DNA repair [GO:0045739]; striated muscle tissue development [GO:0014706]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=O00167-1; Sequence=Displayed; Name=2; IsoId=O00167-2; Sequence=VSP_001490; Name=3; IsoId=O00167-3; Sequence=VSP_001491; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10906137, ECO:0000269|PubMed:12500905}. Nucleus {ECO:0000269|PubMed:10906137, ECO:0000269|PubMed:12500905, ECO:0000269|PubMed:19497856}. Note=Retained in the cytoplasm via interaction with GNAZ and GNAI2 (PubMed:10906137). Interaction with SIX1, SIX2, SIX4 or SIX5 is required for translocation to the nucleus (PubMed:10906137, PubMed:12500905). {ECO:0000269|PubMed:10906137, ECO:0000269|PubMed:12500905}.


uniprotID: Q8NFF5
geneSymbol: FLAD1
reactome: R-HSA-196843;
length: 587
go: ENSG00000160688;
snps: rs773925274 rs771466122
name:
FAD synthase (EC 2.7.7.2) (FAD pyrophosphorylase) (FMN adenylyltransferase) (Flavin adenine dinucleotide synthase) [Includes: Molybdenum cofactor biosynthesis protein-like region; FAD synthase region]

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; FMN adenylyltransferase activity [GO:0003919]; FAD biosynthetic process [GO:0006747]; riboflavin metabolic process [GO:0006771]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=FADS1 {ECO:0000303|PubMed:27259049}; IsoId=Q8NFF5-1; Sequence=Displayed; Name=2; Synonyms=FADS2 {ECO:0000303|PubMed:27259049}; IsoId=Q8NFF5-2; Sequence=VSP_027947; Name=3; IsoId=Q8NFF5-3; Sequence=VSP_027947, VSP_027954; Name=4; IsoId=Q8NFF5-4; Sequence=VSP_027948, VSP_027949, VSP_027951, VSP_027952; Name=5; IsoId=Q8NFF5-5; Sequence=VSP_027948, VSP_027949, VSP_027950, VSP_027953; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion matrix {ECO:0000269|PubMed:20060505}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.


uniprotID: Q96LA6
geneSymbol: FCRL1
length: 429
go: ENSG00000163534;
snps: rs12078586
name:
Fc receptor-like protein 1 (FcR-like protein 1) (FcRL1) (Fc receptor homolog 1) (FcRH1) (IFGP family protein 1) (hIFGP1) (Immune receptor translocation-associated protein 5) (CD antigen CD307a)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; coreceptor activity [GO:0015026]; B cell activation [GO:0042113]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96LA6-1; Sequence=Displayed; Name=2; IsoId=Q96LA6-2; Sequence=VSP_033295; Name=3; IsoId=Q96LA6-3; Sequence=VSP_033293, VSP_033294; Name=4; IsoId=Q96LA6-4; Sequence=VSP_033290, VSP_033291, VSP_033292; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15479727, ECO:0000269|PubMed:16849395}; Single-pass type I membrane protein {ECO:0000269|PubMed:15479727, ECO:0000269|PubMed:16849395}.


uniprotID: Q96RD9
geneSymbol: FCRL5
length: 977
go: ENSG00000143297;
snps: rs6679793 rs12036228 rs2012199 rs16838748 rs34868810 rs6427384
name:
Fc receptor-like protein 5 (FcR-like protein 5) (FcRL5) (BXMAS1) (Fc receptor homolog 5) (FcRH5) (Immune receptor translocation-associated protein 2) (CD antigen CD307e)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=IRTA2c; IsoId=Q96RD9-1; Sequence=Displayed; Name=2; IsoId=Q96RD9-2; Sequence=VSP_017379, VSP_017380; Name=3; Synonyms=IRTA2a; IsoId=Q96RD9-3; Sequence=VSP_017385, VSP_017386; Name=4; Synonyms=IRTA2b; IsoId=Q96RD9-4; Sequence=VSP_017383, VSP_017384; Name=5; Synonyms=IRTA2d; IsoId=Q96RD9-5; Sequence=VSP_017381, VSP_017382; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16849395}; Single-pass type I membrane protein {ECO:0000269|PubMed:16849395}.


uniprotID: P12318
geneSymbol: FCGR2A
reactome: R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-6798695;
pdb: 1FCG;1H9V;3D5O;3RY4;3RY5;3RY6;
length: 317
go: ENSG00000143226;
snps: rs9427398 rs4986941 rs1801274 rs17851834
name:
Low affinity immunoglobulin gamma Fc region receptor II-a (IgG Fc receptor II-a) (CDw32) (Fc-gamma RII-a) (Fc-gamma-RIIa) (FcRII-a) (CD antigen CD32)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; IgG binding [GO:0019864]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P12318-1; Sequence=Displayed; Name=2; IsoId=P12318-2; Sequence=VSP_036865; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19011614}; Single-pass type I membrane protein {ECO:0000269|PubMed:19011614}.


uniprotID: Q8N4B4
geneSymbol: FBXO39
name: F-box only protein 39
length: 442
go: ENSG00000177294;
snps: rs4796555 rs16956264 rs4143218 rs1509123 rs7213731
sequence:

opentargets:
SCF ubiquitin ligase complex [GO:0019005]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]


uniprotID: Q9UK99
geneSymbol: FBXO3
pdb: 5HDW;
name: F-box only protein 3
length: 471
go: ENSG00000110429;
snps: rs1402954
location: SUBCELLULAR LOCATION: Nucleus. Note=Colocalizes with PML at the peripheries of nuclear bodies.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; ubiquitin-protein transferase activity [GO:0004842]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UK99-1; Sequence=Displayed; Name=2; IsoId=Q9UK99-2; Sequence=VSP_024395, VSP_024396; Note=No experimental confirmation available.; Name=3; IsoId=Q9UK99-3; Sequence=VSP_039614, VSP_024395, VSP_024396; Note=No experimental confirmation available.; 


uniprotID: Q9UK97
geneSymbol: FBXO9
reactome: R-HSA-8951664;R-HSA-983168;
name: F-box only protein 9 (Cross-immune reaction antigen 1) (Renal carcinoma antigen NY-REN-57)
length: 447
go: ENSG00000112146;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23263282}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; SCF ubiquitin ligase complex [GO:0019005]; ubiquitin ligase complex [GO:0000151]; ubiquitin-protein transferase activity [GO:0004842]; fat cell differentiation [GO:0045444]; innate immune response [GO:0045087]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of TOR signaling [GO:0032006]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UK97-1; Sequence=Displayed; Name=2; IsoId=Q9UK97-2; Sequence=VSP_012979; Name=3; IsoId=Q9UK97-3; Sequence=VSP_012980; Note=No experimental confirmation available.; 


uniprotID: Q86XK2
geneSymbol: FBXO11
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 5VMD;
length: 927
go: ENSG00000138081;
snps: rs17036993
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
name:
F-box only protein 11 (Protein arginine N-methyltransferase 9) (Vitiligo-associated protein 1) (VIT-1)

sequence:

opentargets:
chromosome [GO:0005694]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; protein-arginine N-methyltransferase activity [GO:0016274]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; cellular protein modification process [GO:0006464]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; sensory perception of sound [GO:0007605]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q86XK2-1; Sequence=Displayed; Name=2; IsoId=Q86XK2-2; Sequence=VSP_022574, VSP_008863, VSP_008864; Name=6; IsoId=Q86XK2-6; Sequence=VSP_022573; Name=3; IsoId=Q86XK2-3; Sequence=VSP_022573, VSP_008862; Note=No experimental confirmation available.; Name=4; IsoId=Q86XK2-4; Sequence=VSP_008860, VSP_008861; Name=5; IsoId=Q86XK2-5; Sequence=VSP_008865; Note=No experimental confirmation available.; 


uniprotID: Q5MNV8
geneSymbol: FBXO47
name: F-box only protein 47
length: 452
go: ENSG00000204952;
snps: rs9906595
sequence:


uniprotID: P06734
geneSymbol: FCER2
reactome: R-HSA-2197563;R-HSA-6783783;R-HSA-6785807;
length: 321
go: ENSG00000104921;
snps: rs2228137 rs8102872
pdb:
1HLI;1KJE;1T8C;1T8D;2H2R;2H2T;4EZM;4G96;4G9A;4GI0;4GJ0;4GJX;4GK1;4GKO;4J6J;4J6K;4J6L;4J6M;4J6N;4J6P;4J6Q;4KI1;5LGK;

name:
Low affinity immunoglobulin epsilon Fc receptor (BLAST-2) (C-type lectin domain family 4 member J) (Fc-epsilon-RII) (Immunoglobulin E-binding factor) (Lymphocyte IgE receptor) (CD antigen CD23) [Cleaved into: Low affinity immunoglobulin epsilon Fc receptor membrane-bound form; Low affinity immunoglobulin epsilon Fc receptor soluble form]

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; IgE binding [GO:0019863]; integrin binding [GO:0005178]; metal ion binding [GO:0046872]; cytokine-mediated signaling pathway [GO:0019221]; Notch signaling pathway [GO:0007219]; positive regulation of humoral immune response mediated by circulating immunoglobulin [GO:0002925]; positive regulation of killing of cells of other organism [GO:0051712]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of nitric-oxide synthase biosynthetic process [GO:0051770]

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein. Cell membrane; Lipid-anchor. Secreted. Note=Also exists as a soluble excreted form, sCD23.


uniprotID: A0PJY2
geneSymbol: FEZF1
name: Fez family zinc finger protein 1 (Zinc finger protein 312B)
length: 475
go: ENSG00000128610;
snps: rs587777739
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19318583}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; axon guidance [GO:0007411]; cell dedifferentiation [GO:0043697]; forebrain anterior/posterior pattern specification [GO:0021797]; negative regulation of cell proliferation [GO:0008285]; neuron migration [GO:0001764]; olfactory bulb development [GO:0021772]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A0PJY2-1; Sequence=Displayed; Name=2; IsoId=A0PJY2-2; Sequence=VSP_026732; Note=No experimental confirmation available.; Name=3; IsoId=A0PJY2-3; Sequence=VSP_026733; Note=Gene prediction based on EST data.; 


uniprotID: Q9UGM5
geneSymbol: FETUB
name: Fetuin-B (16G2) (Fetuin-like protein IRL685) (Gugu)
length: 382
go: ENSG00000090512;
snps: rs34522046 rs6785067 rs7999
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; metalloendopeptidase inhibitor activity [GO:0008191]; binding of sperm to zona pellucida [GO:0007339]; negative regulation of endopeptidase activity [GO:0010951]; single fertilization [GO:0007338]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGM5-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q9UGM5-2; Sequence=VSP_047135; 


uniprotID: O14843
geneSymbol: FFAR3
reactome: R-HSA-416476;R-HSA-444209;
name: Free fatty acid receptor 3 (G-protein coupled receptor 41)
length: 346
go: ENSG00000185897;
snps: rs382771 rs1359000742 rs1415955990 rs1395869674 rs1170582382 rs201080710
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; lipid binding [GO:0008289]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; cellular response to fatty acid [GO:0071398]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; mucosal immune response [GO:0002385]; negative regulation of blood pressure [GO:0045776]; positive regulation of acute inflammatory response to non-antigenic stimulus [GO:0002879]; positive regulation of chemokine production [GO:0032722]; positive regulation of cytokine production involved in immune response [GO:0002720]; regulation of hormone biosynthetic process [GO:0046885]; regulation of insulin receptor signaling pathway [GO:0046626]; regulation of norepinephrine secretion [GO:0014061]; regulation of peptide hormone secretion [GO:0090276]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18801738}; Multi-pass membrane protein {ECO:0000269|PubMed:18801738}.


uniprotID: P98174
geneSymbol: FGD1
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
length: 961
go: ENSG00000102302;
snps: rs28935498 rs137853264 rs28935497
name:
FYVE, RhoGEF and PH domain-containing protein 1 (Faciogenital dysplasia 1 protein) (Rho/Rac guanine nucleotide exchange factor FGD1) (Rho/Rac GEF) (Zinc finger FYVE domain-containing protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; ruffle [GO:0001726]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; small GTPase binding [GO:0031267]; actin cytoskeleton organization [GO:0030036]; animal organ morphogenesis [GO:0009887]; cytoskeleton organization [GO:0007010]; filopodium assembly [GO:0046847]; G protein-coupled receptor signaling pathway [GO:0007186]; multicellular organism development [GO:0007275]; positive regulation of apoptotic process [GO:0043065]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Cell projection, ruffle {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Associated with membrane ruffles and lamellipodia. {ECO:0000250}.


uniprotID: O95073
geneSymbol: FSBP
name: Fibrinogen silencer-binding protein
length: 299
go: ENSG00000265817;
opentargets: nucleus [GO:0005634]; identical protein binding [GO:0042802]
snps: rs3136422
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20531236}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95073-1; Sequence=Displayed; Name=2; IsoId=O95073-2; Sequence=VSP_010774; Note=No experimental confirmation available.; 


uniprotID: P15407
geneSymbol: FOSL1
name: Fos-related antigen 1 (FRA-1)
length: 271
go: ENSG00000175592;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; presynaptic membrane [GO:0042734]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cellular defense response [GO:0006968]; cellular response to extracellular stimulus [GO:0031668]; chemotaxis [GO:0006935]; female pregnancy [GO:0007565]; in utero embryonic development [GO:0001701]; learning [GO:0007612]; negative regulation of cell proliferation [GO:0008285]; placenta blood vessel development [GO:0060674]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of DNA-templated transcription, initiation [GO:2000144]; pri-miRNA transcription by RNA polymerase II [GO:0061614]; regulation of transcription by RNA polymerase II [GO:0006357]; response to cAMP [GO:0051591]; response to corticosterone [GO:0051412]; response to cytokine [GO:0034097]; response to gravity [GO:0009629]; response to hydrogen peroxide [GO:0042542]; response to mechanical stimulus [GO:0009612]; response to progesterone [GO:0032570]; response to virus [GO:0009615]; transcription by RNA polymerase II [GO:0006366]; vitellogenesis [GO:0007296]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P15407-1; Sequence=Displayed; Name=2; IsoId=P15407-2; Sequence=VSP_055566; Note=No experimental confirmation available.; 


uniprotID: P50440
geneSymbol: GATM
reactome: R-HSA-71288;
pdb: 1JDW;1JDX;2JDW;2JDX;3JDW;4JDW;5JDW;6JDW;7JDW;8JDW;9JDW;
length: 423
go: ENSG00000171766;
drug: DB04454;DB02068;DB02530;DB00145;DB00129;DB04185;
name:
Glycine amidinotransferase, mitochondrial (EC 2.1.4.1) (L-arginine:glycine amidinotransferase) (Transamidinase)

sequence:

opentargets:
extracellular exosome [GO:0070062]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; amidinotransferase activity [GO:0015067]; glycine amidinotransferase activity [GO:0015068]; creatine biosynthetic process [GO:0006601]; creatine metabolic process [GO:0006600]; learning or memory [GO:0007611]; multicellular organism development [GO:0007275]; muscle atrophy [GO:0014889]; positive regulation of cold-induced thermogenesis [GO:0120162]

snps:
rs370155767 rs34991226 rs376335787 rs147804855 rs1288775 rs376982466 rs377578020 rs397514709 rs374059924 rs202225656 rs146057680 rs371447931 rs373802463 rs142814307 rs1461653218 rs1244824806 rs374592247 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Mitochondrial; IsoId=P50440-1; Sequence=Displayed; Name=2; Synonyms=Cytoplasmic; IsoId=P50440-2; Sequence=VSP_000235; Name=3; IsoId=P50440-3; Sequence=VSP_039871; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Note=Probably attached to the outer side of the inner membrane.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.


uniprotID: Q9UBS5
geneSymbol: GABBR1
reactome: R-HSA-1296041;R-HSA-418594;R-HSA-420499;R-HSA-977444;R-HSA-997272;
pdb: 4MQE;4MQF;4MR7;4MR8;4MR9;4MRM;4MS1;4MS3;4MS4;4PAS;
length: 961
go: ENSG00000204681;
drug: DB08891;DB08892;DB00181;DB00837;DB05010;DB01080;
snps: rs1805056 rs1805057 rs2076489
name:
Gamma-aminobutyric acid type B receptor subunit 1 (GABA-B receptor 1) (GABA-B-R1) (GABA-BR1) (GABABR1) (Gb1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; extracellular region [GO:0005576]; G protein-coupled receptor heterodimeric complex [GO:0038039]; GABA-ergic synapse [GO:0098982]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; Schaffer collateral - CA1 synapse [GO:0098685]; G protein-coupled GABA receptor activity [GO:0004965]; G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential [GO:0099579]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; G protein-coupled receptor signaling pathway [GO:0007186]; gamma-aminobutyric acid signaling pathway [GO:0007214]; negative regulation of adenylate cyclase activity [GO:0007194]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Isoforms corresponding to the full receptor are essentially found in the central nervous system (CNS).; Name=1A; IsoId=Q9UBS5-1; Sequence=Displayed; Name=1B; IsoId=Q9UBS5-2; Sequence=VSP_002037; Name=1C; IsoId=Q9UBS5-3; Sequence=VSP_002038; Name=1D; IsoId=Q9UBS5-4; Sequence=VSP_002040; Name=1E; Synonyms=Truncated; IsoId=Q9UBS5-5; Sequence=VSP_002039; Note=Major isoform in almost all peripheral tissues, although containing a premature stop codon in the mRNA and thus being a potential target for nonsense-mediated mRNA decay. May act as an antagonist of GABA-B receptors, being able to disrupt the normal association between isoform 1A and GABBR2. {ECO:0000269|PubMed:10906333}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15617512}; Multi-pass membrane protein {ECO:0000305}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q9Z0U4}; Multi-pass membrane protein {ECO:0000305}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q9Z0U4}. Note=Colocalizes with ATF4 in hippocampal neuron dendritic membranes (By similarity). Coexpression of GABBR1 and GABBR2 is required for GABBR1 maturation and transport to the plasma membrane (PubMed:15617512). {ECO:0000250|UniProtKB:Q9Z0U4, ECO:0000269|PubMed:15617512}.; SUBCELLULAR LOCATION: Isoform 1E: Secreted {ECO:0000305}.


uniprotID: P31644
geneSymbol: GABRA5
reactome: R-HSA-112314;R-HSA-977441;
pdb: 5O8F;5OJM;
name: Gamma-aminobutyric acid receptor subunit alpha-5 (GABA(A) receptor subunit alpha-5)
length: 462
go: ENSG00000186297;
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; cytosol [GO:0005829]; dendrite membrane [GO:0032590]; GABA-A receptor complex [GO:1902711]; GABA-ergic synapse [GO:0098982]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; integral component of presynaptic membrane [GO:0099056]; neuron projection [GO:0043005]; neuronal cell body membrane [GO:0032809]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; synapse [GO:0045202]; chloride channel activity [GO:0005254]; GABA receptor binding [GO:0050811]; GABA-A receptor activity [GO:0004890]; GABA-gated chloride ion channel activity [GO:0022851]; inhibitory extracellular ligand-gated ion channel activity [GO:0005237]; signaling receptor activity [GO:0038023]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; transporter activity [GO:0005215]; associative learning [GO:0008306]; behavioral fear response [GO:0001662]; brain development [GO:0007420]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; cochlea development [GO:0090102]; gamma-aminobutyric acid signaling pathway [GO:0007214]; inner ear receptor cell development [GO:0060119]; innervation [GO:0060384]; ion transmembrane transport [GO:0034220]; negative regulation of neuron apoptotic process [GO:0043524]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; regulation of postsynaptic membrane potential [GO:0060078]; sensory perception of sound [GO:0007605]; signal transduction [GO:0007165]; synaptic transmission, GABAergic [GO:0051932]

drug:
DB00659;DB00546;DB06579;DB00404;DB01351;DB00543;DB01352;DB01483;DB01496;DB01558;DB00237;DB00241;DB01353;DB00475;DB01594;DB00349;DB01068;DB00628;DB01559;DB01189;DB00829;DB00228;DB01049;DB01215;DB00402;DB00898;DB00189;DB00292;DB01567;DB01205;DB01544;DB00690;DB05087;DB01437;DB00801;DB01159;DB01354;DB01355;DB00753;DB00186;DB00371;DB00463;DB01028;DB00849;DB01107;DB00683;DB01595;DB00334;DB00842;DB00312;DB01708;DB01588;DB00794;DB00818;DB01589;DB00418;DB01236;DB00306;DB00231;DB11582;DB00599;DB00273;DB00897;DB01198;


uniprotID: P32455
geneSymbol: GBP1
reactome: R-HSA-877300;
pdb: 1DG3;1F5N;2B8W;2B92;2BC9;2D4H;
length: 592
go: ENSG00000117228;
snps: rs1048401 rs17130717 rs1048425 rs1048443
name:
Guanylate-binding protein 1 (EC 3.6.5.-) (GTP-binding protein 1) (GBP-1) (HuGBP-1) (Guanine nucleotide-binding protein 1) (Interferon-induced guanylate-binding protein 1)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; vesicle membrane [GO:0012506]; actin binding [GO:0003779]; cytokine binding [GO:0019955]; enzyme binding [GO:0019899]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; Hsp90 protein binding [GO:0051879]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; spectrin binding [GO:0030507]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; defense response to virus [GO:0051607]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of interleukin-2 secretion [GO:1900041]; negative regulation of protein localization to plasma membrane [GO:1903077]; negative regulation of substrate adhesion-dependent cell spreading [GO:1900025]; negative regulation of T cell receptor signaling pathway [GO:0050860]; protein homooligomerization [GO:0051260]; protein localization to vacuole [GO:0072665]; regulation of calcium-mediated signaling [GO:0050848]; regulation of protein localization to plasma membrane [GO:1903076]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21151871}. Golgi apparatus membrane; Lipid-anchor {ECO:0000269|PubMed:21151871}; Cytoplasmic side. Cell membrane {ECO:0000269|PubMed:21151871}. Secreted. Note=Secreted from endothelial cells in the cerebrospinal fluid, upon bacterial challenge and independently of IFNG induction. Golgi membrane localization requires isoprenylation and the presence of another IFNG-induced factor.


uniprotID: P63215
geneSymbol: GNG3
name: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3
sequence: MKGETPVNSTMSIGQARKMVEQLKIEASLCRIKVSKAAADLMTYCDAHACEDPLITPVPTSENPFREKKFFCALL
length: 75
go: ENSG00000162188;
opentargets:
cell body [GO:0044297]; dendrite [GO:0030425]; heterotrimeric G-protein complex [GO:0005834]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; GTPase activity [GO:0003924]; activation of MAPK activity [GO:0000187]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cytosolic calcium ion concentration [GO:0007204]


uniprotID: P23771
geneSymbol: GATA3
reactome: R-HSA-5689880;R-HSA-6785807;R-HSA-8939236;R-HSA-9018519;R-HSA-983231;
pdb: 4HC7;4HC9;4HCA;
name: Trans-acting T-cell-specific transcription factor GATA-3 (GATA-binding factor 3)
length: 443
go: ENSG00000107485;
snps: rs11567901 rs104894163
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; enhancer sequence-specific DNA binding [GO:0001158]; HMG box domain binding [GO:0071837]; interleukin-2 receptor binding [GO:0005134]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; proximal promoter sequence-specific DNA binding [GO:0000987]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; anatomical structure formation involved in morphogenesis [GO:0048646]; anatomical structure morphogenesis [GO:0009653]; animal organ morphogenesis [GO:0009887]; aortic valve morphogenesis [GO:0003180]; axon guidance [GO:0007411]; blood coagulation [GO:0007596]; canonical Wnt signaling pathway involved in metanephric kidney development [GO:0061290]; cardiac right ventricle morphogenesis [GO:0003215]; cell development [GO:0048468]; cell fate determination [GO:0001709]; cell maturation [GO:0048469]; cellular response to BMP stimulus [GO:0071773]; cellular response to interferon-alpha [GO:0035457]; cellular response to interleukin-4 [GO:0071353]; cellular response to tumor necrosis factor [GO:0071356]; chromatin remodeling [GO:0006338]; cochlea development [GO:0090102]; cytokine-mediated signaling pathway [GO:0019221]; defense response [GO:0006952]; developmental growth [GO:0048589]; ear development [GO:0043583]; embryonic hemopoiesis [GO:0035162]; erythrocyte differentiation [GO:0030218]; heart development [GO:0007507]; humoral immune response [GO:0006959]; in utero embryonic development [GO:0001701]; innate immune response [GO:0045087]; inner ear morphogenesis [GO:0042472]; interferon-gamma secretion [GO:0072643]; interleukin-4 secretion [GO:0072602]; kidney development [GO:0001822]; lens development in camera-type eye [GO:0002088]; lymphocyte migration [GO:0072676]; male gonad development [GO:0008584]; mast cell differentiation [GO:0060374]; mesenchymal to epithelial transition [GO:0060231]; mesonephros development [GO:0001823]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell motility [GO:2000146]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell proliferation involved in mesonephros development [GO:2000607]; negative regulation of DNA demethylation [GO:1901536]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation [GO:2000703]; negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation [GO:2000734]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of interleukin-2 production [GO:0032703]; negative regulation of mammary gland epithelial cell proliferation [GO:0033600]; negative regulation of transcription, DNA-templated [GO:0045892]; nephric duct formation [GO:0072179]; nephric duct morphogenesis [GO:0072178]; neuron migration [GO:0001764]; norepinephrine biosynthetic process [GO:0042421]; otic vesicle development [GO:0071599]; parathyroid gland development [GO:0060017]; parathyroid hormone secretion [GO:0035898]; pharyngeal system development [GO:0060037]; phosphatidylinositol 3-kinase signaling [GO:0014065]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of histone H3-K14 acetylation [GO:0071442]; positive regulation of histone H3-K9 acetylation [GO:2000617]; positive regulation of interleukin-13 secretion [GO:2000667]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of interleukin-5 secretion [GO:2000664]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of signal transduction [GO:0009967]; positive regulation of T cell differentiation [GO:0045582]; positive regulation of T-helper 2 cell cytokine production [GO:2000553]; positive regulation of thyroid hormone generation [GO:2000611]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of ureteric bud formation [GO:0072107]; post-embryonic development [GO:0009791]; pro-T cell differentiation [GO:0002572]; protein deubiquitination [GO:0016579]; regulation of CD4-positive, alpha-beta T cell differentiation [GO:0043370]; regulation of cellular response to X-ray [GO:2000683]; regulation of cytokine biosynthetic process [GO:0042035]; regulation of establishment of cell polarity [GO:2000114]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of histone H3-K27 methylation [GO:0061085]; regulation of histone H3-K4 methylation [GO:0051569]; regulation of nephron tubule epithelial cell differentiation [GO:0072182]; regulation of neuron apoptotic process [GO:0043523]; regulation of neuron projection development [GO:0010975]; response to estrogen [GO:0043627]; response to ethanol [GO:0045471]; response to gamma radiation [GO:0010332]; response to virus [GO:0009615]; signal transduction [GO:0007165]; sympathetic nervous system development [GO:0048485]; T cell receptor signaling pathway [GO:0050852]; T-helper 2 cell differentiation [GO:0045064]; thymic T cell selection [GO:0045061]; thymus development [GO:0048538]; tissue development [GO:0009888]; TOR signaling [GO:0031929]; transcription by RNA polymerase II [GO:0006366]; type IV hypersensitivity [GO:0001806]; ureter maturation [GO:0035799]; ureteric bud formation [GO:0060676]; uterus development [GO:0060065]; ventricular septum development [GO:0003281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P23771-1; Sequence=Displayed; Name=2; IsoId=P23771-2; Sequence=VSP_001598; 


uniprotID: P34903
geneSymbol: GABRA3
reactome: R-HSA-112314;R-HSA-977441;
name: Gamma-aminobutyric acid receptor subunit alpha-3 (GABA(A) receptor subunit alpha-3)
length: 492
go: ENSG00000011677;
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; dendrite membrane [GO:0032590]; GABA-A receptor complex [GO:1902711]; GABA-ergic synapse [GO:0098982]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; synapse [GO:0045202]; benzodiazepine receptor activity [GO:0008503]; chloride channel activity [GO:0005254]; GABA-A receptor activity [GO:0004890]; GABA-gated chloride ion channel activity [GO:0022851]; inhibitory extracellular ligand-gated ion channel activity [GO:0005237]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; gamma-aminobutyric acid signaling pathway [GO:0007214]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; regulation of postsynaptic membrane potential [GO:0060078]; signal transduction [GO:0007165]; synaptic transmission, GABAergic [GO:0051932]

drug:
DB00659;DB00546;DB06579;DB00404;DB01351;DB00543;DB01352;DB01483;DB01496;DB01558;DB00237;DB00241;DB01353;DB00475;DB01594;DB00349;DB01068;DB00628;DB01559;DB01189;DB00829;DB00228;DB01049;DB01215;DB00402;DB00898;DB00189;DB00292;DB01567;DB01205;DB01544;DB00690;DB05087;DB01437;DB00801;DB01159;DB01354;DB01355;DB00753;DB00186;DB00371;DB00463;DB01028;DB00849;DB01107;DB00683;DB01595;DB00334;DB00842;DB04903;DB00312;DB01708;DB01588;DB00794;DB00818;DB01589;DB00418;DB01236;DB00306;DB00231;DB11582;DB00599;DB00273;DB00897;DB00425;DB01198;


uniprotID: Q8NCL4
geneSymbol: GALNT6
reactome: R-HSA-913709;
length: 622
go: ENSG00000139629;
snps: rs747300
name:
Polypeptide N-acetylgalactosaminyltransferase 6 (EC 2.4.1.41) (Polypeptide GalNAc transferase 6) (GalNAc-T6) (pp-GaNTase 6) (Protein-UDP acetylgalactosaminyltransferase 6) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 6)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; polypeptide N-acetylgalactosaminyltransferase activity [GO:0004653]; O-glycan processing [GO:0016266]; protein O-linked glycosylation [GO:0006493]


uniprotID: Q9H0R8
geneSymbol: GABARAPL1
reactome: R-HSA-1632852;
pdb: 2L8J;2R2Q;5DPT;5LXH;5LXI;
length: 117
go: ENSG00000139112;
name:
Gamma-aminobutyric acid receptor-associated protein-like 1 (Early estrogen-regulated protein) (GABA(A) receptor-associated protein-like 1) (Glandular epithelial cell protein 1) (GEC-1)

sequence:
MKFQYKEDHPFEYRKKEGEKIRKKYPDRVPVIVEKAPKARVPDLDKRKYLVPSDLTVGQFYFLIRKRIHLRPEDALFFFVNNTIPPTSATMGQLYEDNHEEDYFLYVAYSDESVYGK

opentargets:
autophagosome [GO:0005776]; autophagosome membrane [GO:0000421]; cell body [GO:0044297]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; dendrite membrane [GO:0032590]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; intracellular [GO:0005622]; microtubule [GO:0005874]; beta-tubulin binding [GO:0048487]; GABA receptor binding [GO:0050811]; Tat protein binding [GO:0030957]; ubiquitin protein ligase binding [GO:0031625]; autophagosome assembly [GO:0000045]; autophagosome maturation [GO:0097352]; autophagy of mitochondrion [GO:0000422]; cellular response to nitrogen starvation [GO:0006995]; macroautophagy [GO:0016236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0R8-1; Sequence=Displayed; Name=2; IsoId=Q9H0R8-2; Sequence=VSP_044422; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasmic vesicle membrane; Lipid-anchor. Endoplasmic reticulum {ECO:0000250}. Golgi apparatus {ECO:0000250}. Cytoplasmic vesicle, autophagosome.


uniprotID: Q9NXK8
geneSymbol: FBXL12
reactome: R-HSA-8951664;R-HSA-983168;
name: F-box/LRR-repeat protein 12 (F-box and leucine-rich repeat protein 12) (F-box protein FBL12)
length: 326
go: ENSG00000127452;
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; SCF ubiquitin ligase complex [GO:0019005]; ubiquitin-protein transferase activity [GO:0004842]; G2/M transition of mitotic cell cycle [GO:0000086]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; regulation of cell cycle [GO:0051726]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXK8-1; Sequence=Displayed; Name=2; IsoId=Q9NXK8-2; Sequence=VSP_008859; 


uniprotID: Q9HAV0
geneSymbol: GNB4
name: Guanine nucleotide-binding protein subunit beta-4 (Transducin beta chain 4)
length: 340
go: ENSG00000114450;
snps: rs387907340 rs387907341
reactome:
R-HSA-163359;R-HSA-202040;R-HSA-381676;R-HSA-392170;R-HSA-392451;R-HSA-392851;R-HSA-400042;R-HSA-4086398;R-HSA-416476;R-HSA-416482;R-HSA-418217;R-HSA-418555;R-HSA-418592;R-HSA-418594;R-HSA-418597;R-HSA-420092;R-HSA-428930;R-HSA-432040;R-HSA-456926;R-HSA-500657;R-HSA-6814122;

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; lysosomal membrane [GO:0005765]; myelin sheath [GO:0043209]; protein-containing complex binding [GO:0044877]; protein folding [GO:0006457]; signal transduction [GO:0007165]; substantia nigra development [GO:0021762]


uniprotID: O75879
geneSymbol: GATB
length: 557
go: ENSG00000059691;
drug: DB00142;DB00130;
snps: rs11556167
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03147, ECO:0000269|PubMed:9878253}.
name:
Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial (Glu-AdT subunit B) (EC 6.3.5.-) (Cytochrome c oxidase assembly factor PET112 homolog)

sequence:

opentargets:
glutamyl-tRNA(Gln) amidotransferase complex [GO:0030956]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity [GO:0050567]; translation factor activity, RNA binding [GO:0008135]; glutaminyl-tRNAGln biosynthesis via transamidation [GO:0070681]; mitochondrial translation [GO:0032543]; translation [GO:0006412]


uniprotID: Q9H1M3
geneSymbol: DEFB129
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 129 (Beta-defensin 29) (DEFB-29) (Defensin, beta 129)
length: 183
go: ENSG00000125903;
snps: rs1053783
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MKLLFPIFASLMLQYQVNTEFIGLRRCLMGLGRCRDHCNVDEKEIQKCKMKKCCVGPKVVKLIKNYLQYGTPNVLNEDVQEMLKPAKNSSAVIQRKHILSVLPQIKSTSFFANTNFVIIPNATPMNSATISTMTPGQITYTATSTKSNTKESRDSATASPPPAPPPPNILPTPSLELEEAEEQ


uniprotID: Q8N687
geneSymbol: DEFB125
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 125 (Beta-defensin 25) (DEFB-25) (Defensin, beta 125)
length: 156
snps: rs41276376
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MNILMLTFIICGLLTRVTKGSFEPQKCWKNNVGHCRRRCLDTERYILLCRNKLSCCISIISHEYTRRPAFPVIHLEDITLDYSDVDSFTGSPVSMLNDLITFDTTKFGETMTPETNTPETTMPPSEATTPETTMPPSETATSETMPPPSQTALTHN


uniprotID: Q9NQZ3
geneSymbol: DAZ1
name: Deleted in azoospermia protein 1
length: 744
go: ENSG00000188120;
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; mRNA 3'-UTR binding [GO:0003730]; translation activator activity [GO:0008494]; germ cell development [GO:0007281]; multicellular organism development [GO:0007275]; positive regulation of translational initiation [GO:0045948]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQZ3-1; Sequence=Displayed; Name=2; IsoId=Q9NQZ3-2; Sequence=VSP_056239, VSP_056240; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11058556}. Nucleus {ECO:0000269|PubMed:11058556}. Note=Predominantly cytoplasmic. Nuclear at some stages of spermatozoide development. Localizes both to the nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal gonocytes and in spermatogonial nuclei. It then relocates to the cytoplasm during male meiosis.


uniprotID: Q86SG3
geneSymbol: DAZ4
name: Deleted in azoospermia protein 4
length: 579
go: ENSG00000188120;ENSG00000205916;ENSG00000205944;
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; mRNA 3'-UTR binding [GO:0003730]; translation activator activity [GO:0008494]; germ cell development [GO:0007281]; multicellular organism development [GO:0007275]; positive regulation of translational initiation [GO:0045948]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86SG3-1; Sequence=Displayed; Name=2; IsoId=Q86SG3-2; Sequence=VSP_009454, VSP_009455, VSP_009456; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11058556}. Nucleus {ECO:0000269|PubMed:11058556}. Note=Predominantly cytoplasmic. Nuclear at some stages of spermatozoide development. Localizes both to the nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal gonocytes and in spermatogonial nuclei. It then relocates to the cytoplasm during male meiosis.


uniprotID: A6NMT0
geneSymbol: DBX1
name: Homeobox protein DBX1 (Developing brain homeobox protein 1)
length: 343
go: ENSG00000109851;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; ventral spinal cord interneuron specification [GO:0021521]


uniprotID: Q8WVC6
geneSymbol: DCAKD
name: Dephospho-CoA kinase domain-containing protein
length: 231
go: ENSG00000172992;
snps: rs17850104
sequence:

opentargets:
membrane [GO:0016020]; ATP binding [GO:0005524]; dephospho-CoA kinase activity [GO:0004140]; coenzyme A biosynthetic process [GO:0015937]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WVC6-1; Sequence=Displayed; Name=2; IsoId=Q8WVC6-2; Sequence=VSP_030810, VSP_030811; 


uniprotID: Q9NV06
geneSymbol: DCAF13
reactome: R-HSA-6790901;R-HSA-6791226;R-HSA-8951664;
name: DDB1- and CUL4-associated factor 13 (WD repeat and SOF domain-containing protein 1)
length: 445
go: ENSG00000164934;
snps: rs3134253 rs13272825
sequence:

opentargets:
cell junction [GO:0030054]; centrosome [GO:0005813]; Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small-subunit processome [GO:0032040]; estrogen receptor binding [GO:0030331]; RNA binding [GO:0003723]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NV06-1; Sequence=Displayed; Name=2; IsoId=Q9NV06-2; Sequence=VSP_029283, VSP_029284; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:24754225}. Note=In the nucleolus, localizes predominantly in the granular component, but also detected in the fibrillar center and dense fibrillar component. {ECO:0000269|PubMed:24754225}.


uniprotID: Q96PD2
geneSymbol: DCBLD2
length: 775
go: ENSG00000057019;
snps: rs9838238 rs16840208
name:
Discoidin, CUB and LCCL domain-containing protein 2 (CUB, LCCL and coagulation factor V/VIII-homology domains protein 1) (Endothelial and smooth muscle cell-derived neuropilin-like protein)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; intracellular receptor signaling pathway [GO:0030522]; negative regulation of cell growth [GO:0030308]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96PD2-1; Sequence=Displayed; Name=2; IsoId=Q96PD2-2; Sequence=VSP_010715; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:11973641}; Single-pass type I membrane protein {ECO:0000269|PubMed:11973641}.


uniprotID: P43146
geneSymbol: DCC
reactome: R-HSA-373752;R-HSA-376172;R-HSA-418885;R-HSA-418886;R-HSA-418889;R-HSA-418890;R-HSA-428542;
pdb: 2ED7;2ED8;2ED9;2EDB;2EDD;2EDE;3AU4;4URT;5X83;
length: 1447
go: ENSG00000187323;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Netrin receptor DCC (Colorectal cancer suppressor) (Immunoglobulin superfamily DCC subclass member 1) (Tumor suppressor protein DCC)

sequence:

opentargets:
axon [GO:0030424]; cytosol [GO:0005829]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; netrin receptor activity [GO:0005042]; transmembrane signaling receptor activity [GO:0004888]; anterior/posterior axon guidance [GO:0033564]; apoptotic process [GO:0006915]; axon guidance [GO:0007411]; axonogenesis [GO:0007409]; dorsal/ventral axon guidance [GO:0033563]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; negative regulation of collateral sprouting [GO:0048671]; negative regulation of dendrite development [GO:2000171]; negative regulation of netrin-activated signaling pathway [GO:1902842]; negative regulation of neuron projection development [GO:0010977]; neuron migration [GO:0001764]; postsynaptic modulation of chemical synaptic transmission [GO:0099170]; regulation of neuron death [GO:1901214]; spinal cord ventral commissure morphogenesis [GO:0021965]

snps:
rs9951523 rs121912967 rs2229080 rs1057519056 rs2271042 rs199651452 rs775565634 rs2278339 rs1057519054 rs1057519055 rs1057519057 rs984274 rs2270950 rs1039528164 rs748112308 rs387906555 


uniprotID: Q8IWE4
geneSymbol: DCUN1D3
reactome: R-HSA-8951664;
pdb: 4GBA;
length: 304
go: ENSG00000188215;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25349211}.
name:
DCN1-like protein 3 (DCUN1 domain-containing protein 3) (Defective in cullin neddylation protein 1-like protein 3) (Squamous cell carcinoma-related oncogene 3)

sequence:

opentargets:
perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ubiquitin ligase complex [GO:0000151]; cullin family protein binding [GO:0097602]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin-like protein binding [GO:0032182]; negative regulation of cell growth [GO:0030308]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; positive regulation of apoptotic process [GO:0043065]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; post-translational protein modification [GO:0043687]; protein neddylation [GO:0045116]; response to gamma radiation [GO:0010332]; response to UV-C [GO:0010225]


uniprotID: Q9BTE7
geneSymbol: DCUN1D5
reactome: R-HSA-8951664;
length: 237
go: ENSG00000137692;
name:
DCN1-like protein 5 (DCUN1 domain-containing protein 5) (Defective in cullin neddylation protein 1-like protein 5)

sequence:

opentargets:
ubiquitin ligase complex [GO:0000151]; cullin family protein binding [GO:0097602]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin-like protein binding [GO:0032182]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; protein neddylation [GO:0045116]


uniprotID: Q9UER7
geneSymbol: DAXX
reactome: R-HSA-3899300;R-HSA-6804757;
pdb: 2KQS;2KZS;2KZU;4H9N;4H9O;4H9P;4H9Q;4H9R;4H9S;4HGA;5GRQ;5KDM;5Y18;5Y6O;
length: 740
go: ENSG00000204209;
name:
Death domain-associated protein 6 (Daxx) (hDaxx) (ETS1-associated protein 1) (EAP1) (Fas death domain-associated protein)

sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; androgen receptor binding [GO:0050681]; enzyme binding [GO:0019899]; heat shock protein binding [GO:0031072]; histone binding [GO:0042393]; p53 binding [GO:0002039]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase activator activity [GO:0030295]; protein kinase binding [GO:0019901]; protein N-terminus binding [GO:0047485]; SUMO binding [GO:0032183]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; activation of JUN kinase activity [GO:0007257]; androgen receptor signaling pathway [GO:0030521]; apoptotic process [GO:0006915]; cellular response to cadmium ion [GO:0071276]; cellular response to copper ion [GO:0071280]; cellular response to diamide [GO:0072738]; cellular response to heat [GO:0034605]; cellular response to sodium arsenite [GO:1903936]; cellular response to unfolded protein [GO:0034620]; chromatin remodeling [GO:0006338]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; negative regulation of transcription, DNA-templated [GO:0045892]; nucleosome assembly [GO:0006334]; positive regulation of neuron death [GO:1901216]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein phosphorylation [GO:0001934]; regulation of protein ubiquitination [GO:0031396]; regulation of transcription, DNA-templated [GO:0006355]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9UER7-1; Sequence=Displayed; Name=2; IsoId=Q9UER7-2; Sequence=VSP_001270; Note=No experimental confirmation available.; Name=3; IsoId=Q9UER7-3; Sequence=VSP_045588; Note=No experimental confirmation available.; Name=beta; IsoId=Q9UER7-4; Sequence=VSP_057438, VSP_057440; Note=Markedly decreased affinity for PML and TP53/p53, unable to repress p53-mediated transcription.; Name=gamma; IsoId=Q9UER7-5; Sequence=VSP_057437, VSP_057439; Note=Markedly decreased affinity for PML and TP53/p53, unable to repress p53-mediated transcription.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11495919, ECO:0000269|PubMed:11842083, ECO:0000269|PubMed:12968034, ECO:0000269|PubMed:9407001}. Nucleus, nucleoplasm {ECO:0000269|PubMed:10669754, ECO:0000269|PubMed:16845383, ECO:0000269|PubMed:18566590, ECO:0000269|PubMed:23222847, ECO:0000269|PubMed:9407001}. Nucleus, PML body {ECO:0000269|PubMed:10669754, ECO:0000269|PubMed:11842083, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:17081986, ECO:0000269|PubMed:21482821, ECO:0000269|PubMed:23222847, ECO:0000269|PubMed:24200965, ECO:0000269|PubMed:25275136}. Nucleus, nucleolus {ECO:0000269|PubMed:23222847}. Chromosome, centromere {ECO:0000269|PubMed:24200965, ECO:0000269|PubMed:9645950}. Note=Dispersed throughout the nucleoplasm, in PML/POD/ND10 nuclear bodies, and in nucleoli (Probable). Colocalizes with histone H3.3, ATRX, HIRA and ASF1A at PML-nuclear bodies (PubMed:12953102, PubMed:14990586, PubMed:23222847, PubMed:24200965). Colocalizes with a subset of interphase centromeres, but is absent from mitotic centromeres (PubMed:9645950). Detected in cytoplasmic punctate structures (PubMed:11842083). Translocates from the nucleus to the cytoplasm upon glucose deprivation or oxidative stress (PubMed:12968034). Colocalizes with RASSF1 in the nucleus (PubMed:18566590). Colocalizes with USP7 in nucleoplasma with accumulation in speckled structures (PubMed:16845383). {ECO:0000269|PubMed:11842083, ECO:0000269|PubMed:12953102, ECO:0000269|PubMed:12968034, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:16845383, ECO:0000269|PubMed:18566590, ECO:0000269|PubMed:23222847, ECO:0000269|PubMed:24200965, ECO:0000269|PubMed:9645950, ECO:0000305|PubMed:10669754}.; SUBCELLULAR LOCATION: Isoform beta: Nucleus {ECO:0000269|PubMed:21482821}. Note=Diffuse nuclear distribution pattern and no comparable dot-like accumulation of isoform 1. {ECO:0000269|PubMed:21482821}.; SUBCELLULAR LOCATION: Isoform gamma: Nucleus {ECO:0000269|PubMed:21482821}. Note=Diffuse nuclear distribution pattern and no comparable dot-like accumulation of isoform 1. {ECO:0000269|PubMed:21482821}.


uniprotID: Q9BYW3
geneSymbol: DEFB126
reactome: R-HSA-1461957;R-HSA-1461973;
length: 111
go: ENSG00000125788;
name:
Beta-defensin 126 (Beta-defensin 26) (DEFB-26) (Defensin, beta 126) (Epididymal secretory protein 13.2) (ESP13.2) (HBD26)

sequence:
MKSLLFTLAVFMLLAQLVSGNWYVKKCLNDVGICKKKCKPEEMHVKNGWAMCGKQRDCCVPADRRANYPVFCVQTKTTRISTVTATTATTTLMMTTASMSSMAPTPVSPTG

opentargets:
extracellular region [GO:0005576]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; defense response to Gram-negative bacterium [GO:0050829]; innate immune response [GO:0045087]; single fertilization [GO:0007338]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Note=Secreted by epididymal cells and is absorbed to the surface of sperm during transit through the epididymis (By similarity). Mainly located on the sperm acrosome. {ECO:0000250|UniProtKB:Q9BEE3, ECO:0000269|PubMed:26832966}.


uniprotID: Q9BQY9
geneSymbol: DBNDD2
name: Dysbindin domain-containing protein 2 (Casein kinase-1 binding protein) (CK1BP) (HSMNP1)
length: 259
go: ENSG00000244274;
opentargets: cytoplasm [GO:0005737]; negative regulation of protein kinase activity [GO:0006469]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BQY9-1; Sequence=Displayed; Name=2; IsoId=Q9BQY9-2; Sequence=VSP_007753; Name=3; IsoId=Q9BQY9-3; Sequence=VSP_007753, VSP_040767, VSP_040768; Name=4; IsoId=Q9BQY9-4; Sequence=VSP_046691; 


uniprotID: Q8TEB1
geneSymbol: DCAF11
reactome: R-HSA-8951664;
name: DDB1- and CUL4-associated factor 11 (WD repeat-containing protein 23)
length: 546
go: ENSG00000100897;
snps: rs3825584
sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; nucleoplasm [GO:0005654]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TEB1-1; Sequence=Displayed; Name=2; IsoId=Q8TEB1-2; Sequence=VSP_008424; Name=3; IsoId=Q8TEB1-3; Sequence=VSP_008423; 


uniprotID: Q8WV16
geneSymbol: DCAF4
reactome: R-HSA-8951664;
pdb: 3I8C;
name: DDB1- and CUL4-associated factor 4 (WD repeat-containing protein 21A)
length: 495
go: ENSG00000119599;
snps: rs2302588 rs17856582 rs7155812 rs17856583 rs3815460 rs17856584
sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; nucleoplasm [GO:0005654]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8WV16-1; Sequence=Displayed; Name=2; IsoId=Q8WV16-2; Sequence=VSP_020986, VSP_020987; Note=No experimental confirmation available.; Name=3; IsoId=Q8WV16-3; Sequence=VSP_047171, VSP_047172; Note=No experimental confirmation available.; Name=4; IsoId=Q8WV16-4; Sequence=VSP_045427; Name=5; IsoId=Q8WV16-5; Sequence=VSP_047172, VSP_047173; Note=No experimental confirmation available.; 


uniprotID: Q9Y6G9
geneSymbol: DYNC1LI1
pdb: 6B9H;
length: 523
go: ENSG00000144635;
snps: rs34181332 rs2303857
reactome:
R-HSA-141444;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-3371497;R-HSA-5663220;R-HSA-6798695;R-HSA-6807878;R-HSA-6811436;R-HSA-68877;

name:
Cytoplasmic dynein 1 light intermediate chain 1 (LIC1) (Dynein light chain A) (DLC-A) (Dynein light intermediate chain 1, cytosolic)

sequence:

opentargets:
centrosome [GO:0005813]; condensed chromosome kinetochore [GO:0000777]; cytoplasmic dynein complex [GO:0005868]; cytosol [GO:0005829]; ficolin-1-rich granule membrane [GO:0101003]; kinetochore [GO:0000776]; membrane [GO:0016020]; microtubule [GO:0005874]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; dynein heavy chain binding [GO:0045504]; GDP binding [GO:0019003]; microtubule motor activity [GO:0003777]; RNA binding [GO:0003723]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell cycle [GO:0007049]; cell division [GO:0051301]; ER to Golgi vesicle-mediated transport [GO:0006888]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based movement [GO:0007018]; neutrophil degranulation [GO:0043312]; positive regulation of mitotic cell cycle spindle assembly checkpoint [GO:0090267]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:19229290}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:19229290}.


uniprotID: P20813
geneSymbol: CYP2B6
reactome: R-HSA-211935;R-HSA-211981;R-HSA-211999;
pdb: 3IBD;3QOA;3QU8;3UA5;4I91;4RQL;4RRT;4ZV8;5UAP;5UDA;5UEC;5UFG;5WBG;
length: 491
go: ENSG00000197408;
name:
Cytochrome P450 2B6 (EC 1.14.13.-) (1,4-cineole 2-exo-monooxygenase) (CYPIIB6) (Cytochrome P450 IIB1)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; arachidonic acid epoxygenase activity [GO:0008392]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; steroid hydroxylase activity [GO:0008395]; cellular ketone metabolic process [GO:0042180]; drug metabolic process [GO:0017144]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; steroid metabolic process [GO:0008202]; xenobiotic metabolic process [GO:0006805]

drug:
DB08369;DB02974;DB00321;DB00381;DB00701;DB01435;DB06413;DB06697;DB01076;DB00972;DB04975;DB00865;DB06770;DB04794;DB00835;DB01156;DB00564;DB00748;DB00439;DB00169;DB00568;DB00604;DB00515;DB00215;DB00349;DB00636;DB00758;DB01559;DB00257;DB01394;DB05219;DB08865;DB04664;DB00531;DB01151;DB01234;DB00514;DB00829;DB00586;DB01075;DB01184;DB00997;DB00625;DB08899;DB00751;DB00199;DB00655;DB00898;DB01466;DB04841;DB01544;DB00472;DB01095;DB00176;DB01320;DB01159;DB09054;DB01181;DB00458;DB00762;DB00753;DB01167;DB09570;DB01221;DB06738;DB01026;DB00281;DB00836;DB01601;DB04871;DB09280;DB00772;DB01043;DB00532;DB04817;DB00333;DB00763;DB01028;DB00849;DB06710;DB00379;DB06148;DB01110;DB00683;DB00745;DB00220;DB00238;DB00622;DB00184;DB01115;DB04868;DB00435;DB09074;DB01173;DB04938;DB00715;DB01074;DB04930;DB00850;DB00454;DB03575;DB01174;DB00252;DB06209;DB00794;DB01069;DB00818;DB01589;DB00908;DB00481;DB08896;DB01045;DB08864;DB00503;DB06176;DB00296;DB00778;DB01037;DB01104;DB01236;DB00641;DB00398;DB06729;DB01138;DB00675;DB00231;DB00624;DB04572;DB00208;DB00193;DB00755;DB00197;DB00313;DB00285;DB00661;DB09068;

snps:
rs34883432 rs8192709 rs33973337 rs33980385 rs34284776 rs33926104 rs35303484 rs36060847 rs12721655 rs35773040 rs3826711 rs3745274 rs45482602 rs2279343 rs34277950 rs34698757 rs28399499 rs35979566 rs3211371 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P20813-1; Sequence=Displayed; Name=2; IsoId=P20813-2; Sequence=VSP_055571, VSP_055572; Note=No experimental confirmation available.; 


uniprotID: Q14195
geneSymbol: DPYSL3
reactome: R-HSA-399956;
pdb: 4BKN;4CNS;4CNT;4CNU;
length: 570
go: ENSG00000113657;
snps: rs2304044
name:
Dihydropyrimidinase-related protein 3 (DRP-3) (Collapsin response mediator protein 4) (CRMP-4) (Unc-33-like phosphoprotein 1) (ULIP-1)

sequence:

opentargets:
cell body [GO:0044297]; cytosol [GO:0005829]; exocytic vesicle [GO:0070382]; extracellular space [GO:0005615]; filamentous actin [GO:0031941]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; synapse [GO:0045202]; chondroitin sulfate binding [GO:0035374]; filamin binding [GO:0031005]; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds [GO:0016810]; SH3 domain binding [GO:0017124]; actin crosslink formation [GO:0051764]; actin filament bundle assembly [GO:0051017]; cellular response to cytokine stimulus [GO:0071345]; negative regulation of cell migration [GO:0030336]; negative regulation of neuron projection development [GO:0010977]; neuron development [GO:0048666]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of neuron projection development [GO:0010976]; protein homooligomerization [GO:0051260]; response to axon injury [GO:0048678]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14195-1; Sequence=Displayed; Name=LCRMP-4; IsoId=Q14195-2; Sequence=VSP_042546; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Note=Colocalizes with synaptic vesicle protein 2 in the central region of the growth cone. {ECO:0000250}.


uniprotID: Q9BZJ0
geneSymbol: CRNKL1
reactome: R-HSA-72163;
pdb: 5MQF;5XJC;5YZG;5Z56;5Z57;5Z58;6FF4;
name: Crooked neck-like protein 1 (Crooked neck homolog) (hCrn)
length: 848
go: ENSG00000101343;
snps: rs7508949 rs2273058 rs2255258 rs2255255 rs35201190
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; post-mRNA release spliceosomal complex [GO:0071014]; Prp19 complex [GO:0000974]; spliceosomal complex [GO:0005681]; U2-type catalytic step 2 spliceosome [GO:0071007]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; spliceosomal complex assembly [GO:0000245]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Type-II; IsoId=Q9BZJ0-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9BZJ0-2; Sequence=VSP_002058; Name=3; IsoId=Q9BZJ0-3; Sequence=VSP_002059; Name=4; Synonyms=Type-III; IsoId=Q9BZJ0-4; Sequence=VSP_002059, VSP_002062; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; Synonyms=type-IV; IsoId=Q9BZJ0-5; Sequence=VSP_002060, VSP_002061; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12801913, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}. Nucleus speckle {ECO:0000269|PubMed:12084575}. Note=Colocalizes with core spliceosomal snRNP proteins (PubMed:12084575). {ECO:0000269|PubMed:12084575}.


uniprotID: Q9UBG3
geneSymbol: CRNN
length: 495
go: ENSG00000143536;
snps: rs35639220 rs6695830 rs3829868
name:
Cornulin (53 kDa putative calcium-binding protein) (53 kDa squamous epithelial-induced stress protein) (58 kDa heat shock protein) (Squamous epithelial heat shock protein 53) (Tumor-related protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; transition metal ion binding [GO:0046914]; cell-cell adhesion [GO:0098609]; response to heat [GO:0009408]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15854041, ECO:0000269|PubMed:16640557}. Note=Does not colocalize with TGM1.


uniprotID: Q8NEV1
geneSymbol: CSNK2A3
length: 391
go: ENSG00000254598;
snps: rs2071460
name:
Casein kinase II subunit alpha 3 (CK II alpha 3) (EC 2.7.11.1) (Casein kinase II alpha 1 polypeptide pseudogene)

sequence:

opentargets:
nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of protein catabolic process [GO:0045732]; protein phosphorylation [GO:0006468]


uniprotID: Q7Z408
geneSymbol: CSMD2
name: CUB and sushi domain-containing protein 2 (CUB and sushi multiple domains protein 2)
length: 3487
go: ENSG00000121904;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
snps: rs16836099 rs474474 rs1874045 rs11588581 rs2641962 rs3820206 rs34850622 rs1617468
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7Z408-1; Sequence=Displayed; Name=2; IsoId=Q7Z408-2; Sequence=VSP_009038, VSP_009039, VSP_009040, VSP_009041, VSP_009042; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z408-3; Sequence=VSP_009043, VSP_009044, VSP_009045, VSP_009046; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z408-4; Sequence=VSP_055687, VSP_009040, VSP_055688, VSP_055689; 


uniprotID: P0CG22
geneSymbol: DHRS4L1
length: 281
opentargets: oxidoreductase activity [GO:0016491]
drug: DB03461;
name:
Putative dehydrogenase/reductase SDR family member 4-like 1 (EC 1.1.-.-) (Short chain dehydrogenase/reductase family 25C member 4)

sequence:


uniprotID: P55039
geneSymbol: DRG2
name: Developmentally-regulated GTP-binding protein 2 (DRG-2)
length: 364
go: ENSG00000108591;
snps: rs17855350 rs61256737
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; GTP binding [GO:0005525]; signal transduction [GO:0007165]


uniprotID: P78329
geneSymbol: CYP4F2
reactome: R-HSA-211935;R-HSA-211958;R-HSA-211979;R-HSA-2142691;R-HSA-2142816;
length: 520
go: ENSG00000186115;
drug: DB08868;DB09148;
snps: rs3093104 rs3093105 rs3093153 rs1805040 rs2108622 rs3093200
name:
Phylloquinone omega-hydroxylase CYP4F2 (EC 1.14.14.78) (20-hydroxyeicosatetraenoic acid synthase) (20-HETE synthase) (EC 1.14.14.-) (Arachidonic acid omega-hydroxylase) (CYPIVF2) (Cytochrome P450 4F2) (Cytochrome P450-LTB-omega) (Leukotriene-B(4) 20-monooxygenase 1) (Leukotriene-B(4) omega-hydroxylase 1) (EC 1.14.14.94)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; 20-aldehyde-leukotriene B4 20-monooxygenase activity [GO:0097259]; 20-hydroxy-leukotriene B4 omega oxidase activity [GO:0097258]; alkane 1-monooxygenase activity [GO:0018685]; alpha-tocopherol omega-hydroxylase activity [GO:0052871]; arachidonic acid epoxygenase activity [GO:0008392]; arachidonic acid omega-hydroxylase activity [GO:0052869]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; leukotriene-B4 20-monooxygenase activity [GO:0050051]; monooxygenase activity [GO:0004497]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [GO:0016709]; tocotrienol omega-hydroxylase activity [GO:0052872]; arachidonic acid metabolic process [GO:0019369]; blood coagulation [GO:0007596]; drug metabolic process [GO:0017144]; epoxygenase P450 pathway [GO:0019373]; icosanoid metabolic process [GO:0006690]; leukotriene B4 catabolic process [GO:0036101]; leukotriene metabolic process [GO:0006691]; long-chain fatty acid metabolic process [GO:0001676]; menaquinone catabolic process [GO:0042361]; negative regulation of icosanoid secretion [GO:0032304]; omega-hydroxylase P450 pathway [GO:0097267]; oxidation-reduction process [GO:0055114]; phylloquinone catabolic process [GO:0042376]; positive regulation of icosanoid secretion [GO:0032305]; pressure natriuresis [GO:0003095]; regulation of blood pressure [GO:0008217]; renal water homeostasis [GO:0003091]; sodium ion homeostasis [GO:0055078]; very long-chain fatty acid metabolic process [GO:0000038]; vitamin E metabolic process [GO:0042360]; vitamin K catabolic process [GO:0042377]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78329-1; Sequence=Displayed; Name=2; IsoId=P78329-2; Sequence=VSP_055578, VSP_055579, VSP_055580; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000269|PubMed:19297519, ECO:0000269|PubMed:24138531, ECO:0000269|PubMed:8026587}; Peripheral membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:20861217}; Peripheral membrane protein {ECO:0000305}.


uniprotID: Q9BT78
geneSymbol: COPS4
reactome: R-HSA-5696394;R-HSA-6781823;R-HSA-8856825;R-HSA-8951664;
pdb: 4D0P;4D10;4D18;4WSN;
length: 406
go: ENSG00000138663;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle.
name:
COP9 signalosome complex subunit 4 (SGN4) (Signalosome subunit 4) (JAB1-containing signalosome subunit 4)

sequence:

opentargets:
cell junction [GO:0030054]; COP9 signalosome [GO:0008180]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; synaptic vesicle [GO:0008021]; NEDD8-specific protease activity [GO:0019784]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; post-translational protein modification [GO:0043687]; protein deneddylation [GO:0000338]; transcription-coupled nucleotide-excision repair [GO:0006283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BT78-1; Sequence=Displayed; Name=2; IsoId=Q9BT78-2; Sequence=VSP_046336; Note=No experimental confirmation available.; 


uniprotID: Q6WN34
geneSymbol: CHRDL2
name: Chordin-like protein 2 (Breast tumor novel factor 1) (BNF-1) (Chordin-related protein 2)
length: 429
go: ENSG00000054938;
snps: rs35903991
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; cartilage development [GO:0051216]; cell differentiation [GO:0030154]; ossification [GO:0001503]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Five additional mRNAs also exist. Differential expression of isoforms was observed during myoblast and osteoblast differentiation and maturation.; Name=1; Synonyms=I; IsoId=Q6WN34-1; Sequence=Displayed; Name=2; Synonyms=II; IsoId=Q6WN34-2; Sequence=VSP_013519; Name=3; Synonyms=VII; IsoId=Q6WN34-3; Sequence=VSP_013512, VSP_013513, VSP_013514, VSP_013518; Name=4; Synonyms=VIII; IsoId=Q6WN34-4; Sequence=VSP_013512, VSP_013513, VSP_013517, VSP_013518; Name=5; Synonyms=IX; IsoId=Q6WN34-5; Sequence=VSP_013512, VSP_013513, VSP_013515, VSP_013516; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000305}.


uniprotID: P54107
geneSymbol: CRISP1
length: 249
go: ENSG00000124812;
name:
Cysteine-rich secretory protein 1 (CRISP-1) (AEG-like protein) (ARP) (Acidic epididymal glycoprotein homolog)

sequence:

opentargets:
extracellular space [GO:0005615]; nucleus [GO:0005634]; calcium channel regulator activity [GO:0005246]; binding of sperm to zona pellucida [GO:0007339]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]; regulation of acrosome reaction [GO:0060046]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P54107-1; Sequence=Displayed; Name=Short; Synonyms=CRISP-1 delta; IsoId=P54107-2; Sequence=VSP_006027, VSP_006028; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Note=Located in the lumen and epithelium of distal ductus efferentes and epididymal ducts, and on the postacrosomal region of the sperm head.


uniprotID: P16562
geneSymbol: CRISP2
pdb: 2CQ7;
length: 243
go: ENSG00000124490;
opentargets: extracellular space [GO:0005615]
snps: rs34457011
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Cysteine-rich secretory protein 2 (CRISP-2) (Cancer/testis antigen 36) (CT36) (Testis-specific protein TPX-1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P16562-1; Sequence=Displayed; Name=2; IsoId=P16562-2; Sequence=VSP_053891; 


uniprotID: P54108
geneSymbol: CRISP3
reactome: R-HSA-6798695;
name: Cysteine-rich secretory protein 3 (CRISP-3) (Specific granule protein of 28 kDa) (SGP28)
length: 245
go: ENSG00000096006;
snps: rs495335 rs1864312
location: SUBCELLULAR LOCATION: Secreted. Note=In neutrophils, localized in specific granules.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; specific granule [GO:0042581]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; defense response [GO:0006952]; innate immune response [GO:0045087]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P54108-1; Sequence=Displayed; Name=2; IsoId=P54108-2; Sequence=VSP_042758; Name=3; IsoId=P54108-3; Sequence=VSP_042759; 


uniprotID: P46109
geneSymbol: CRKL
reactome: R-HSA-170968;R-HSA-186763;R-HSA-8875555;R-HSA-8875656;R-HSA-912631;
pdb: 2BZX;2BZY;2DBK;2EO3;2LQN;2LQW;
name: Crk-like protein
length: 303
go: ENSG00000099942;
sequence:

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; extrinsic component of postsynaptic membrane [GO:0098890]; neuromuscular junction [GO:0031594]; nucleoplasm [GO:0005654]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; phosphotyrosine residue binding [GO:0001784]; RNA binding [GO:0003723]; SH3/SH2 adaptor activity [GO:0005070]; activation of MAPKK activity [GO:0000186]; animal organ morphogenesis [GO:0009887]; anterior/posterior pattern specification [GO:0009952]; blood vessel development [GO:0001568]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cytokine-mediated signaling pathway [GO:0019221]; heart development [GO:0007507]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; negative regulation of gene expression [GO:0010629]; negative regulation of protein phosphorylation [GO:0001933]; parathyroid gland development [GO:0060017]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of glial cell migration [GO:1903977]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; Ras protein signal transduction [GO:0007265]; synapse assembly [GO:0007416]; thymus development [GO:0048538]


uniprotID: Q96KN9
geneSymbol: GJD4
reactome: R-HSA-190861;
name: Gap junction delta-4 protein (Connexin-40.1) (Cx40.1)
length: 370
go: ENSG00000177291;
snps: rs35398622 rs773395724
sequence:

opentargets:
connexin complex [GO:0005922]; integral component of membrane [GO:0016021]; cell communication [GO:0007154]; regulation of satellite cell activation involved in skeletal muscle regeneration [GO:0014717]


uniprotID: P25024
geneSymbol: CXCR1
reactome: R-HSA-380108;R-HSA-418594;R-HSA-6798695;
pdb: 1ILP;1ILQ;2LNL;
length: 350
go: ENSG00000163464;
drug: DB01009;
snps: rs16858811 rs1805038 rs9282752 rs2234671 rs201583693 rs16858808 rs16858806
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
C-X-C chemokine receptor type 1 (CXC-R1) (CXCR-1) (CDw128a) (High affinity interleukin-8 receptor A) (IL-8R A) (IL-8 receptor type 1) (CD antigen CD181)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; G protein-coupled receptor activity [GO:0004930]; interleukin-8 binding [GO:0019959]; interleukin-8 receptor activity [GO:0004918]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; cell surface receptor signaling pathway [GO:0007166]; chemotaxis [GO:0006935]; dendritic cell chemotaxis [GO:0002407]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; neutrophil chemotaxis [GO:0030593]; neutrophil degranulation [GO:0043312]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; receptor internalization [GO:0031623]


uniprotID: P17302
geneSymbol: GJA1
reactome: R-HSA-190704;R-HSA-190827;R-HSA-190840;R-HSA-190861;R-HSA-190873;R-HSA-191647;R-HSA-196025;
pdb: 2LL2;
name: Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein)
length: 382
go: ENSG00000152661;
drug: DB01136;
sequence:

opentargets:
cell junction [GO:0030054]; connexin complex [GO:0005922]; endoplasmic reticulum membrane [GO:0005789]; focal adhesion [GO:0005925]; gap junction [GO:0005921]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi-associated vesicle membrane [GO:0030660]; integral component of plasma membrane [GO:0005887]; intercalated disc [GO:0014704]; intracellular membrane-bounded organelle [GO:0043231]; membrane raft [GO:0045121]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; gap junction channel activity [GO:0005243]; gap junction channel activity involved in cardiac conduction electrical coupling [GO:0086075]; gap junction channel activity involved in cell communication by electrical coupling [GO:1903763]; ion transmembrane transporter activity [GO:0015075]; atrial cardiac muscle cell action potential [GO:0086014]; cell communication by electrical coupling [GO:0010644]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; cell-cell signaling [GO:0007267]; gap junction assembly [GO:0016264]; heart development [GO:0007507]; ion transmembrane transport [GO:0034220]; muscle contraction [GO:0006936]; negative regulation of cell growth [GO:0030308]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; signal transduction [GO:0007165]

snps:
rs864309644 rs121912969 rs104893961 rs104893962 rs104893963 rs104893964 rs794729675 rs267606844 rs267606845 rs28931601 rs28931600 rs1057518872 rs962041031 rs2228961 rs104893966 rs750294638 rs397518464 rs875989815 rs764670582 rs17653265 rs2227885 rs104893965 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22411987, ECO:0000269|PubMed:25398053}; Multi-pass membrane protein {ECO:0000255}. Cell junction, gap junction {ECO:0000269|PubMed:22411987, ECO:0000269|PubMed:25398053}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P23242}. Note=Localizes at the intercalated disk (ICD) in cardiomyocytes and the proper localization at ICD is dependent on TMEM65. {ECO:0000250|UniProtKB:P23242}.


uniprotID: Q9NXE8
geneSymbol: CWC25
reactome: R-HSA-72163;
pdb: 5YZG;
length: 425
go: ENSG00000273559;
opentargets: nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; mRNA splicing, via spliceosome [GO:0000398]
name:
Pre-mRNA-splicing factor CWC25 homolog (Coiled-coil domain-containing protein 49) (Spliceosome-associated protein homolog CWC25)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXE8-1; Sequence=Displayed; Name=2; IsoId=Q9NXE8-2; Sequence=VSP_025797; 


uniprotID: Q9H5V9
geneSymbol: CXorf56
name: UPF0428 protein CXorf56
length: 222
go: ENSG00000018610;
opentargets: cell body [GO:0044297]; cytoplasm [GO:0005737]; nucleus [GO:0005634]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H5V9-1; Sequence=Displayed; Name=2; IsoId=Q9H5V9-2; Sequence=VSP_044273; Name=3; IsoId=Q9H5V9-3; Sequence=VSP_044274; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29374277}. Cytoplasm {ECO:0000250|UniProtKB:Q8VDP2}. Note=Detected in the nucleus and cell soma of various neuronal types. {ECO:0000250|UniProtKB:Q8VDP2}.


uniprotID: O75712
geneSymbol: GJB3
reactome: R-HSA-190861;
name: Gap junction beta-3 protein (Connexin-31) (Cx31)
length: 270
go: ENSG00000188910;
snps: rs74315316 rs74315315 rs1805063 rs74315321 rs74315317 rs74315320 rs74315318 rs61734064
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
cell junction [GO:0030054]; connexin complex [GO:0005922]; cytoplasm [GO:0005737]; gap junction [GO:0005921]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; gap junction channel activity [GO:0005243]; cell communication [GO:0007154]; cellular response to retinoic acid [GO:0071300]; in utero embryonic development [GO:0001701]; placenta development [GO:0001890]; skin development [GO:0043588]; spermatogenesis [GO:0007283]


uniprotID: Q8NFK1
geneSymbol: GJC3
length: 279
go: ENSG00000176402;
name:
Gap junction gamma-3 protein (Connexin-30.2) (Cx30.2) (Connexin-31.3) (Cx31.3) (Gap junction epsilon-1 protein)

sequence:

opentargets:
connexin complex [GO:0005922]; integral component of membrane [GO:0016021]; myelin sheath [GO:0043209]; protein homodimerization activity [GO:0042803]; AV node cell to bundle of His cell communication by electrical coupling [GO:0086053]; myelination [GO:0042552]; sensory perception of sound [GO:0007605]


uniprotID: Q9HB71
geneSymbol: CACYBP
pdb: 1X5M;2A25;2A26;
name: Calcyclin-binding protein (CacyBP) (hCacyBP) (S100A6-binding protein) (Siah-interacting protein)
length: 228
go: ENSG00000116161;
sequence:

opentargets:
beta-catenin destruction complex [GO:0030877]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein homodimerization activity [GO:0042803]; S100 protein binding [GO:0044548]; tubulin binding [GO:0015631]; ubiquitin protein ligase binding [GO:0031625]; heart development [GO:0007507]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HB71-1; Sequence=Displayed; Name=2; Synonyms=SIP-S, S; IsoId=Q9HB71-2; Sequence=VSP_010171, VSP_010172; Name=3; IsoId=Q9HB71-3; Sequence=VSP_046862; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12895292}. Cytoplasm {ECO:0000269|PubMed:12895292}. Note=Cytoplasmic at low calcium concentrations. In neuroblastoma cells, after a retinoic acid (RA) induction and calcium increase, it localizes in both the nucleus and cytoplasm. The nuclear fraction may be phosphorylated.


uniprotID: Q96KH6
geneSymbol: C18orf12
name: Uncharacterized protein C18orf12 (Protein HEIL1)
length: 178
sequence:
MERIVHCEGIVSWDNLYREYNTMASTFGPKDILVLPLATDSFFVIGKVTSSLWASVSSFLNNKKIPHGAWLLSPCLHFLQALLVCAQVYLPLPVRSLLCICTCPPFVCSLSDTGLPLFPPTASLNPAMCHNGVELSFWMMWRDLTLMPFPSHQANLASSSTHGISQNAESGREIEHQG


uniprotID: P16220
geneSymbol: CREB1
pdb: 2LXT;5ZK1;5ZKO;
length: 341
go: ENSG00000118260;
drug: DB00131;DB01183;
snps: rs387906617
reactome:
R-HSA-111931;R-HSA-111932;R-HSA-198693;R-HSA-199920;R-HSA-2151201;R-HSA-2197563;R-HSA-375165;R-HSA-400253;R-HSA-442717;R-HSA-442720;R-HSA-442729;R-HSA-442742;R-HSA-5674400;R-HSA-881907;

name:
Cyclic AMP-responsive element-binding protein 1 (CREB-1) (cAMP-responsive element-binding protein 1)

sequence:

opentargets:
ATF4-CREB1 transcription factor complex [GO:1990589]; axon [GO:0030424]; mitochondrial matrix [GO:0005759]; nuclear euchromatin [GO:0005719]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; arrestin family protein binding [GO:1990763]; cAMP response element binding [GO:0035497]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; histone acetyltransferase binding [GO:0035035]; Hsp70 protein binding [GO:0030544]; identical protein binding [GO:0042802]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription coactivator binding [GO:0001225]; transcription coregulator activity [GO:0003712]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; aging [GO:0007568]; axonogenesis [GO:0007409]; cellular response to fatty acid [GO:0071398]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; cellular response to insulin-like growth factor stimulus [GO:1990314]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; cellular response to retinoic acid [GO:0071300]; cellular response to zinc ion [GO:0071294]; chemotaxis to arachidonic acid [GO:0034670]; circadian rhythm [GO:0007623]; lactation [GO:0007595]; lung saccule development [GO:0060430]; memory [GO:0007613]; negative regulation of neuron death [GO:1901215]; negative regulation of transcription by competitive promoter binding [GO:0010944]; pituitary gland development [GO:0021983]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cardiac muscle tissue development [GO:0055025]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of hormone secretion [GO:0046887]; positive regulation of lipid biosynthetic process [GO:0046889]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of RNA polymerase II transcriptional preinitiation complex assembly [GO:0045899]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta3 production [GO:0032916]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; regulation of cell size [GO:0008361]; regulation of circadian rhythm [GO:0042752]; regulation of fibroblast proliferation [GO:0048145]; regulation of glial cell proliferation [GO:0060251]; response to activity [GO:0014823]; response to glucagon [GO:0033762]; response to hypoxia [GO:0001666]; response to L-glutamate [GO:1902065]; response to nicotine [GO:0035094]; response to organic substance [GO:0010033]; secretory granule organization [GO:0033363]; signal transduction [GO:0007165]; transcription by RNA polymerase II [GO:0006366]; transforming growth factor beta receptor signaling pathway [GO:0007179]; type I pneumocyte differentiation [GO:0060509]; viral process [GO:0016032]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=CREB-A; IsoId=P16220-1; Sequence=Displayed; Name=CREB-B; IsoId=P16220-2; Sequence=VSP_000596; Name=3; Synonyms=htCREB; IsoId=P16220-3; Sequence=VSP_043914; Note=Highly expressed in adult testis and sperm.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00312, ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:12552083}.


uniprotID: P50238
geneSymbol: CRIP1
sequence: MPKCPKCNKEVYFAERVTSLGKDWHRPCLKCEKCGKTLTSGGHAEHEGKPYCNHPCYAAMFGPKGFGRGGAESHTFK
length: 77
go: ENSG00000213145;
name:
Cysteine-rich protein 1 (CRP-1) (Cysteine-rich heart protein) (CRHP) (hCRHP) (Cysteine-rich intestinal protein) (CRIP)

opentargets:
cytoplasm [GO:0005737]; AT DNA binding [GO:0003680]; DNA binding, bending [GO:0008301]; peptide binding [GO:0042277]; zinc ion binding [GO:0008270]; cell proliferation [GO:0008283]; cellular response to antibiotic [GO:0071236]; cellular response to UV-B [GO:0071493]; heart development [GO:0007507]; immune response [GO:0006955]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; prostate gland stromal morphogenesis [GO:0060741]; regulation of gene expression [GO:0010468]; response to organic substance [GO:0010033]; response to zinc ion [GO:0010043]


uniprotID: A8MUP2
geneSymbol: CSKMT
length: 240
go: ENSG00000214756;
snps: rs11231181
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25023281, ECO:0000269|PubMed:28887308}.
name:
Citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial (CS-KMT) (EC 2.1.1.-) (Methyltransferase-like protein 12, mitochondrial)

sequence:

opentargets:
mitochondrion [GO:0005739]; lysine N-methyltransferase activity [GO:0016278]; protein-lysine N-methyltransferase activity [GO:0016279]; peptidyl-lysine dimethylation [GO:0018027]; peptidyl-lysine monomethylation [GO:0018026]; peptidyl-lysine trimethylation [GO:0018023]; protein methylation [GO:0006479]


uniprotID: Q08477
geneSymbol: CYP4F3
reactome: R-HSA-211935;R-HSA-211958;R-HSA-211979;R-HSA-2142691;
length: 520
go: ENSG00000186529;
snps: rs34923393 rs35888783 rs1805040 rs28371536 rs28371479
name:
Docosahexaenoic acid omega-hydroxylase CYP4F3 (EC 1.14.14.79) (20-hydroxyeicosatetraenoic acid synthase) (20-HETE synthase) (EC 1.14.14.-) (CYPIVF3) (Cytochrome P450 4F3) (Cytochrome P450-LTB-omega) (Leukotriene-B(4) 20-monooxygenase 2) (Leukotriene-B(4) omega-hydroxylase 2) (EC 1.14.14.94)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; 20-aldehyde-leukotriene B4 20-monooxygenase activity [GO:0097259]; 20-hydroxy-leukotriene B4 omega oxidase activity [GO:0097258]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; leukotriene-B4 20-monooxygenase activity [GO:0050051]; monooxygenase activity [GO:0004497]; icosanoid metabolic process [GO:0006690]; leukotriene metabolic process [GO:0006691]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=2;  Name=CYP4F3A; IsoId=Q08477-1; Sequence=Displayed; Name=CYP4F3B; IsoId=Q08477-2; Sequence=VSP_047193; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.


uniprotID: Q9Y295
geneSymbol: DRG1
pdb: 2EKI;
length: 367
go: ENSG00000185721;
name:
Developmentally-regulated GTP-binding protein 1 (DRG-1) (Neural precursor cell expressed developmentally down-regulated protein 3) (NEDD-3)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nuclear body [GO:0016604]; polysome [GO:0005844]; GTP binding [GO:0005525]; identical protein binding [GO:0042802]; transcription factor binding [GO:0008134]; multicellular organism development [GO:0007275]; transcription, DNA-templated [GO:0006351]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15676025, ECO:0000269|PubMed:19819225}. Note=The DRG1-DFRP2/ZC3H15 complex associates with polysomes.


uniprotID: P14854
geneSymbol: COX6B1
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase subunit 6B1 (Cytochrome c oxidase subunit VIb isoform 1) (COX VIb-1)
sequence: MAEDMETKIKNYKTAPFDSRFPNQNQTRNCWQNYLDFHRCQKAMTAKGGDISVCEWYQRVYQSLCPTSWVTDWDEQRAEGTFPGKI
length: 86
go: ENSG00000126267;
drug: DB02659;DB04464;
snps: rs121909602
location: SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000250}.
opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; cytochrome-c oxidase activity [GO:0004129]; substantia nigra development [GO:0021762]


uniprotID: P24310
geneSymbol: COX7A1
sequence: MQALRVSQALIRSFSSTARNRFQNRVREKQKLFQEDNDIPLYLKGGIVDNILYRVTMTLCLGGTVYSLYSLGWASFPRN
length: 79
go: ENSG00000161281;
drug: DB02659;DB04464;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
Cytochrome c oxidase subunit 7A1, mitochondrial (Cytochrome c oxidase subunit VIIa-heart) (Cytochrome c oxidase subunit VIIa-H) (Cytochrome c oxidase subunit VIIa-muscle) (Cytochrome c oxidase subunit VIIa-M)

opentargets:
integral component of membrane [GO:0016021]; mitochondrial respiratory chain [GO:0005746]; mitochondrial respiratory chain supercomplex [GO:0097249]; mitochondrion [GO:0005739]; cytochrome-c oxidase activity [GO:0004129]; generation of precursor metabolites and energy [GO:0006091]; mitochondrial respiratory chain supercomplex assembly [GO:0097250]; regulation of oxidative phosphorylation [GO:0002082]


uniprotID: P49682
geneSymbol: CXCR3
reactome: R-HSA-380108;R-HSA-418594;
length: 368
go: ENSG00000186810;
snps: rs139226823 rs766348940
name:
C-X-C chemokine receptor type 3 (CXC-R3) (CXCR-3) (CKR-L2) (G protein-coupled receptor 9) (Interferon-inducible protein 10 receptor) (IP-10 receptor) (CD antigen CD183)

sequence:

opentargets:
cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; C-X-C chemokine binding [GO:0019958]; C-X-C chemokine receptor activity [GO:0016494]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; signaling receptor activity [GO:0038023]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; calcium-mediated signaling [GO:0019722]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; cell surface receptor signaling pathway [GO:0007166]; chemokine (C-C motif) ligand 11 production [GO:0071954]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; negative regulation of angiogenesis [GO:0016525]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of execution phase of apoptosis [GO:1900118]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chemotaxis [GO:0050921]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of execution phase of apoptosis [GO:1900119]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of leukocyte migration [GO:0002685]; T cell chemotaxis [GO:0010818]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CXCR3-A; IsoId=P49682-1; Sequence=Displayed; Name=2; Synonyms=CXCR3-B; IsoId=P49682-2; Sequence=VSP_015684; Name=3; Synonyms=CXCR3-alt; IsoId=P49682-3; Sequence=VSP_015685; Note=Due to exon skipping.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:12782716}; Multi-pass membrane protein {ECO:0000269|PubMed:12782716}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000269|PubMed:12782716}; Multi-pass membrane protein {ECO:0000269|PubMed:12782716}.


uniprotID: O43169
geneSymbol: CYB5B
reactome: R-HSA-211945;
pdb: 3NER;
name: Cytochrome b5 type B (Cytochrome b5 outer mitochondrial membrane isoform)
length: 146
go: ENSG00000103018;
location: SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250}.
sequence:
MATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEHPGGEEVLLEQAGVDASESFEDVGHSSDAREMLKQYYIGDIHPSDLKPESGSKDPSKNDTCKSCWAYWILPIIGAVLLGFLYRYYTSESKSS

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; oxidation-reduction process [GO:0055114]


uniprotID: Q6B8I1
geneSymbol: DUSP13
pdb: 5XJV;
length: 188
go: ENSG00000079393;
snps: rs7912300
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15252030}.
name:
Dual specificity protein phosphatase 13 isoform A (DUSP13A) (EC 3.1.3.16) (EC 3.1.3.48) (Branching-enzyme interacting DSP) (Muscle-restricted DSP) (MDSP)

sequence:
MAETSLPELGGEDKATPCPSILELEELLRAGKSSCSRVDEVWPNLFIGDAATANNRFELWKLGITHVLNAAHKGLYCQGGPDFYGSSVSYLGVPAHDLPDFDISAYFSSAADFIHRALNTPGAKVLVHCVVGVSRSATLVLAYLMLHQRLSLRQAVITVRQHRWVFPNRGFLHQLCRLDQQLRGAGQS

opentargets:
cytoplasm [GO:0005737]; phosphatase activity [GO:0016791]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; dephosphorylation [GO:0016311]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=5; IsoId=Q6B8I1-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=1; Synonyms=TMDP; IsoId=Q9UII6-1; Sequence=External; Note=Produced by alternative promoter usage.; Name=2; IsoId=Q6B8I1-5; Sequence=VSP_047819; Note=Produced by alternative promoter usage and alternative splicing. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=TMDP-L2; IsoId=Q9UII6-4; Sequence=External; Note=Produced by alternative promoter usage and alternative splicing.; Name=6; IsoId=Q6B8I1-2; Sequence=VSP_046446, VSP_046447; Note=Produced by alternative promoter usage and alternative splicing. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=7; IsoId=Q6B8I1-3; Sequence=VSP_046445, VSP_046448; Note=Produced by alternative promoter usage and alternative splicing. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=8; IsoId=Q6B8I1-4; Sequence=VSP_046449; Note=Produced by alternative promoter usage and alternative splicing. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 


uniprotID: P61803
geneSymbol: DAD1
reactome: R-HSA-446203;
length: 113
go: ENSG00000129562;
snps: rs5742796
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein {ECO:0000305}.
name:
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1 (Oligosaccharyl transferase subunit DAD1) (Defender against cell death 1) (DAD-1)

sequence:
MSASVVSVISRFLEEYLSSTPQRLKLLDAYLLYILLTGALQFGYCLLVGTFPFNSFLSGFISCVGSFILAVCLRIQINPQNKADFQGISPERAFADFLFASTILHLVVMNFVG

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; oligosaccharyltransferase complex [GO:0008250]; dolichyl-diphosphooligosaccharide-protein glycotransferase activity [GO:0004579]; apoptotic process [GO:0006915]; blastocyst development [GO:0001824]; negative regulation of apoptotic process [GO:0043066]; protein glycosylation [GO:0006486]; protein N-linked glycosylation [GO:0006487]; protein N-linked glycosylation via asparagine [GO:0018279]; response to drug [GO:0042493]; response to nutrient [GO:0007584]


uniprotID: Q9UBU7
geneSymbol: DBF4
reactome: R-HSA-176187;R-HSA-68962;
pdb: 4F99;4F9A;4F9B;4F9C;
length: 674
go: ENSG00000006634;
snps: rs1476703 rs2041049
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10373557}.
name:
Protein DBF4 homolog A (Activator of S phase kinase) (Chiffon homolog A) (DBF4-type zinc finger-containing protein 1)

sequence:

opentargets:
Dbf4-dependent protein kinase complex [GO:0031431]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; enzyme activator activity [GO:0008047]; nucleic acid binding [GO:0003676]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activator activity [GO:0043539]; zinc ion binding [GO:0008270]; DNA replication [GO:0006260]; G1/S transition of mitotic cell cycle [GO:0000082]; positive regulation of DNA replication [GO:0045740]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBU7-1; Sequence=Displayed; Name=2; IsoId=Q9UBU7-2; Sequence=VSP_018203, VSP_018204; 


uniprotID: Q5QP82
geneSymbol: DCAF10
reactome: R-HSA-8951664;
name: DDB1- and CUL4-associated factor 10 (WD repeat-containing protein 32)
length: 559
go: ENSG00000122741;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5QP82-1; Sequence=Displayed; Name=2; IsoId=Q5QP82-2; Sequence=VSP_028513; Note=No experimental confirmation available.; 


uniprotID: Q96EP5
geneSymbol: DAZAP1
pdb: 2DGS;2DH8;
name: DAZ-associated protein 1 (Deleted in azoospermia-associated protein 1)
length: 407
go: ENSG00000071626;
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; ribonucleoprotein complex [GO:1990904]; mRNA 3'-UTR binding [GO:0003730]; poly(G) binding [GO:0034046]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; RNA stem-loop binding [GO:0035613]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; maternal placenta development [GO:0001893]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96EP5-1; Sequence=Displayed; Name=2; IsoId=Q96EP5-2; Sequence=VSP_009441; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22001406}. Nucleus {ECO:0000269|PubMed:22001406}. Note=Predominantly cytoplasmic (By similarity). Nuclear at some stages of spermatozoides development. In midpachytene spermatocytes, it is localized in both the cytoplasm and the nuclei and is clearly excluded from the sex vesicles. In round spermatids, it localizes mainly in the nuclei, whereas in elongated spermatids, it localizes to the cytoplasm (By similarity). {ECO:0000250}.


uniprotID: Q15038
geneSymbol: DAZAP2
name: DAZ-associated protein 2 (Deleted in azoospermia-associated protein 2)
length: 168
go: ENSG00000183283;
snps: rs57917280
sequence:
MNSKGQYPTQPTYPVQPPGNPVYPQTLHLPQAPPYTDAPPAYSELYRPSFVHPGAATVPTMSAAFPGASLYLPMAQSVAVGPLGSTIPMAYYPVGPIYPPGSTVLVEGGYDAGARFGAGATAGNIPPPPPGCPPNAAQLAVMQGANVLVTQRKGNFFMGGSDGGYTIW

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; protein serine/threonine kinase activator activity [GO:0043539]; receptor tyrosine kinase binding [GO:0030971]; WW domain binding [GO:0050699]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q15038-1; Sequence=Displayed; Name=2; IsoId=Q15038-2; Sequence=VSP_042773; Note=No experimental confirmation available.; Name=6; IsoId=Q15038-6; Sequence=VSP_055181; Note=No experimental confirmation available.; Name=3; IsoId=Q15038-3; Sequence=VSP_045679; Name=4; IsoId=Q15038-4; Sequence=VSP_045678; Note=No experimental confirmation available.; Name=5; IsoId=Q15038-5; Sequence=VSP_046764; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Predominantly nuclear in macrophages, stimulation of IL17RB with its ligand IL17E induces accumulation in the cytoplasm.


uniprotID: O14576
geneSymbol: DYNC1I1
length: 645
go: ENSG00000158560;
snps: rs35077523
reactome:
R-HSA-141444;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-3371497;R-HSA-5663220;R-HSA-6807878;R-HSA-6811436;R-HSA-68877;

name:
Cytoplasmic dynein 1 intermediate chain 1 (Cytoplasmic dynein intermediate chain 1) (Dynein intermediate chain 1, cytosolic) (DH IC-1)

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; cytoplasmic dynein complex [GO:0005868]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; dynein complex [GO:0030286]; kinetochore [GO:0000776]; microtubule [GO:0005874]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; recycling endosome [GO:0055037]; spindle pole [GO:0000922]; vesicle [GO:0031982]; dynein heavy chain binding [GO:0045504]; dynein light chain binding [GO:0045503]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; motor activity [GO:0003774]; spectrin binding [GO:0030507]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; ER to Golgi vesicle-mediated transport [GO:0006888]; microtubule-based movement [GO:0007018]; vesicle transport along microtubule [GO:0047496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O14576-1; Sequence=Displayed; Name=2; IsoId=O14576-2; Sequence=VSP_001332; Name=3; IsoId=O14576-3; Sequence=VSP_001332, VSP_001333; Name=4; IsoId=O14576-4; Sequence=VSP_001332, VSP_001333, VSP_054766; Note=No experimental confirmation available.; Name=5; IsoId=O14576-5; Sequence=VSP_001333; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:19229290}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:19229290}.


uniprotID: Q5H9S7
geneSymbol: DCAF17
reactome: R-HSA-8951664;
name: DDB1- and CUL4-associated factor 17
length: 520
go: ENSG00000115827;
snps: rs3731984
sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5H9S7-1; Sequence=Displayed; Name=2; IsoId=Q5H9S7-2; Sequence=VSP_027788; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Nucleus, nucleolus {ECO:0000269|PubMed:19026396}. Note=According to PubMed:19026396, it is a nucleolar protein, while sequence analysis programs clearly predict 2 transmembrane regions.


uniprotID: Q10586
geneSymbol: DBP
reactome: R-HSA-1368108;
length: 325
go: ENSG00000105516;
location: SUBCELLULAR LOCATION: Nucleus.
name:
D site-binding protein (Albumin D box-binding protein) (Albumin D-element-binding protein) (Tax-responsive enhancer element-binding protein 302) (TaxREB302)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; circadian rhythm [GO:0007623]; liver development [GO:0001889]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P99999
geneSymbol: CYCS
reactome: R-HSA-111457;R-HSA-111458;R-HSA-111459;R-HSA-2151201;R-HSA-3299685;R-HSA-5628897;R-HSA-611105;
pdb: 1J3S;2N3Y;2N9I;2N9J;3NWV;3ZCF;3ZOO;5EXQ;5O10;5TY3;
name: Cytochrome c
length: 105
go: ENSG00000172115;
drug: DB03317;DB01017;DB03977;DB02110;DB03934;DB04249;
snps: rs121918552 rs11548795
sequence:
MGDVEKGKKIFIMKCSQCHTVEKGGKHKTGPNLHGLFGRKTGQAPGYSYTAANKNKGIIWGEDTLMEYLENPKKYIPGTKMIFVGIKKKEERADLIAYLKKATNE

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; protein phosphatase type 2A complex [GO:0000159]; respiratory chain [GO:0070469]; electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity [GO:0045155]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c [GO:0008635]; cellular respiration [GO:0045333]; cellular response to oxidative stress [GO:0034599]; intrinsic apoptotic signaling pathway [GO:0097193]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]; mitochondrial electron transport, ubiquinol to cytochrome c [GO:0006122]; mitochondrion organization [GO:0007005]; protein dephosphorylation [GO:0006470]

location:
SUBCELLULAR LOCATION: Mitochondrion intermembrane space. Note=Loosely associated with the inner membrane.


uniprotID: Q96PH6
geneSymbol: DEFB118
reactome: R-HSA-1461957;R-HSA-1461973;
length: 123
snps: rs34173055
location: SUBCELLULAR LOCATION: Secreted.
name:
Beta-defensin 118 (Beta-defensin 18) (DEFB-18) (Defensin, beta 118) (Epididymal secretory protein 13.6) (ESP13.6)

sequence:
MKLLLLALPMLVLLPQVIPAYSGEKKCWNRSGHCRKQCKDGEAVKDTCKNLRACCIPSNEDHRRVPATSPTPLSDSTPGIIDDILTVRFTTDYFEVSSKKDMVEESEAGRGTETSLPNVHHSS

opentargets:
extracellular region [GO:0005576]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell-matrix adhesion [GO:0007160]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; innate immune response [GO:0045087]; killing of cells of other organism [GO:0031640]; membrane disruption in other organism [GO:0051673]; spermatogenesis [GO:0007283]


uniprotID: Q7Z7B7
geneSymbol: DEFB132
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 132 (Beta-defensin 32) (BD-32) (DEFB-32) (Defensin HEL-75) (Defensin, beta 132)
sequence: MKFLLLVLAALGFLTQVIPASAGGSKCVSNTPGYCRTCCHWGETALFMCNASRKCCISYSFLPKPDLPQLIGNHWQSRRRNTQRKDKKQQTTVTS
length: 95
go: ENSG00000186458;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
opentargets:
extracellular space [GO:0005615]; sperm head [GO:0061827]; defense response to Gram-negative bacterium [GO:0050829]; innate immune response [GO:0045087]; killing of cells of other organism [GO:0031640]


uniprotID: Q5T6F0
geneSymbol: DCAF12
pdb: 3I7P;
length: 453
go: ENSG00000198876;
snps: rs11557154
name:
DDB1- and CUL4-associated factor 12 (Centrosome-related protein TCC52) (Testis cancer centrosome-related protein) (WD repeat-containing protein 40A)

sequence:

opentargets:
centrosome [GO:0005813]; Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; cytoplasm [GO:0005737]; protein ubiquitination [GO:0016567]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18957058}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:18957058}.


uniprotID: Q5VU92
geneSymbol: DCAF12L1
name: DDB1- and CUL4-associated factor 12-like protein 1 (WD repeat-containing protein 40B)
length: 463
go: ENSG00000198889;
opentargets: Cul4-RING E3 ubiquitin ligase complex [GO:0080008]
snps: rs11095722
sequence:


uniprotID: Q5VW00
geneSymbol: DCAF12L2
name: DDB1- and CUL4-associated factor 12-like protein 2 (WD repeat-containing protein 40C)
length: 463
go: ENSG00000198354;
opentargets: Cul4-RING E3 ubiquitin ligase complex [GO:0080008]
snps: rs10126452
sequence:


uniprotID: Q9UIK4
geneSymbol: DAPK2
reactome: R-HSA-418889;
pdb: 1WMK;1WRZ;1Z9X;1ZUZ;1ZWS;2A27;2A2A;2CKE;
length: 370
go: ENSG00000035664;
snps: rs56047843 rs34270163
location: SUBCELLULAR LOCATION: Cytoplasm. Cytoplasmic vesicle, autophagosome lumen.
name:
Death-associated protein kinase 2 (DAP kinase 2) (EC 2.7.11.1) (DAP-kinase-related protein 1) (DRP-1)

sequence:

opentargets:
autophagosome lumen [GO:0034423]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; identical protein binding [GO:0042802]; protein serine/threonine kinase activity [GO:0004674]; anoikis [GO:0043276]; apoptotic process [GO:0006915]; intracellular signal transduction [GO:0035556]; neutrophil migration [GO:1990266]; positive regulation of eosinophil chemotaxis [GO:2000424]; positive regulation of neutrophil chemotaxis [GO:0090023]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of apoptotic process [GO:0042981]; regulation of autophagy [GO:0010506]; regulation of intrinsic apoptotic signaling pathway [GO:2001242]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha; IsoId=Q9UIK4-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q9UIK4-2; Sequence=VSP_042057; Note=Contains a leucine zipper at positions 434-451.; 


uniprotID: Q13117
geneSymbol: DAZ2
name: Deleted in azoospermia protein 2
length: 558
go: ENSG00000205944;
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; mRNA 3'-UTR binding [GO:0003730]; RNA binding [GO:0003723]; translation activator activity [GO:0008494]; germ cell development [GO:0007281]; multicellular organism development [GO:0007275]; positive regulation of translational initiation [GO:0045948]; single fertilization [GO:0007338]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13117-1; Sequence=Displayed; Name=2; IsoId=Q13117-2; Sequence=VSP_009452; Name=3; IsoId=Q13117-3; Sequence=VSP_009453; 


uniprotID: Q9H1C7
geneSymbol: CYSTM1
reactome: R-HSA-6798695;
name: Cysteine-rich and transmembrane domain-containing protein 1
sequence: MNQENPPPYPGPGPTAPYPPYPPQPMGPGPMGGPYPPPQGYPYQGYPQYGWQGGPQEPPKTTVYVVEDQRRDELGPSTCLTACWTALCCCCLWDMLT
length: 97
go: ENSG00000120306;
snps: rs17852164
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821]; neutrophil degranulation [GO:0043312]


uniprotID: Q8NES8
geneSymbol: DEFB124
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 124 (Beta-defensin 24) (DEFB-24) (Defensin, beta 124)
sequence: MTQLLLFLVALLVLGHVPSGRSEFKRCWKGQGACQTYCTRQETYMHLCPDASLCCLSYALKPPPVPKHEYE
length: 71
go: ENSG00000180383;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
opentargets:
extracellular region [GO:0005576]; intracellular [GO:0005622]; cellular response to peptidoglycan [GO:0071224]; defense response to bacterium [GO:0042742]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; innate immune response [GO:0045087]; positive regulation of chemokine (C-C motif) ligand 2 secretion [GO:1904209]; positive regulation of chemokine (C-C motif) ligand 5 production [GO:0071651]; positive regulation of chemokine secretion [GO:0090197]; positive regulation of interleukin-12 secretion [GO:2001184]; positive regulation of interleukin-2 secretion [GO:1900042]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of monocyte chemotaxis [GO:0090026]


uniprotID: Q8N136
geneSymbol: DAW1
pdb: 5NNZ;
length: 415
go: ENSG00000123977;
opentargets: cilium [GO:0005929]
snps: rs11894733 rs1715828 rs113776284 rs35027781 rs35395984
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000305}.
name:
Dynein assembly factor with WDR repeat domains 1 (Outer row dynein assembly protein 16 homolog) (WD repeat-containing protein 69)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N136-1; Sequence=Displayed; Name=2; IsoId=Q8N136-2; Sequence=VSP_019460, VSP_019461; Note=No experimental confirmation available.; 


uniprotID: Q8NDV2
geneSymbol: GPR26
name: G-protein coupled receptor 26
length: 337
go: ENSG00000154478;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]


uniprotID: Q8TCB0
geneSymbol: IFI44
name: Interferon-induced protein 44 (p44) (Microtubule-associated protein 44)
length: 444
go: ENSG00000137965;
snps: rs2070123
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; immune response [GO:0006955]; response to bacterium [GO:0009617]; response to virus [GO:0009615]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TCB0-1; Sequence=Displayed; Name=2; IsoId=Q8TCB0-2; Sequence=VSP_057031, VSP_057032; Note=No experimental confirmation available.; 


uniprotID: P46089
geneSymbol: GPR3
name: G-protein coupled receptor 3 (ACCA orphan receptor)
length: 330
go: ENSG00000181773;
snps: rs734852
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; positive regulation of cold-induced thermogenesis [GO:0120162]; regulation of meiotic nuclear division [GO:0040020]


uniprotID: P46093
geneSymbol: GPR4
reactome: R-HSA-373076;R-HSA-416476;
name: G-protein coupled receptor 4 (G-protein coupled receptor 19)
length: 362
go: ENSG00000177464;
snps: rs36012326
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; angiogenesis involved in wound healing [GO:0060055]; G protein-coupled receptor signaling pathway [GO:0007186]; glomerular mesangial cell development [GO:0072144]; negative regulation of angiogenesis [GO:0016525]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of Rho protein signal transduction [GO:0035025]; response to acidic pH [GO:0010447]


uniprotID: Q9BZJ7
geneSymbol: GPR62
length: 368
go: ENSG00000180929;
snps: rs28587738 rs28651222 rs323871
name:
G-protein coupled receptor 62 (G-protein coupled receptor GPCR8) (hGPCR8) (G-protein coupled receptor KPG_005)

sequence:

opentargets:
endosome [GO:0005768]; endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; arrestin family protein binding [GO:1990763]; G protein-coupled receptor activity [GO:0004930]; identical protein binding [GO:0042802]; G protein-coupled receptor signaling pathway [GO:0007186]; inositol phosphate-mediated signaling [GO:0048016]; positive regulation of cAMP-mediated signaling [GO:0043950]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28827538}; Multi-pass membrane protein {ECO:0000255}. Endosome membrane {ECO:0000269|PubMed:28827538}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalizes with ARRB2 in the endosome (PubMed:28827538). {ECO:0000269|PubMed:28827538}.


uniprotID: O14879
geneSymbol: IFIT3
reactome: R-HSA-909733;
pdb: 6C6K;
length: 490
go: ENSG00000119917;
location: SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion.
name:
Interferon-induced protein with tetratricopeptide repeats 3 (IFIT-3) (CIG49) (ISG-60) (Interferon-induced 60 kDa protein) (IFI-60K) (Interferon-induced protein with tetratricopeptide repeats 4) (IFIT-4) (Retinoic acid-induced gene G protein) (P60) (RIG-G)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; cellular response to interferon-alpha [GO:0035457]; defense response to virus [GO:0051607]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9BZJ6
geneSymbol: GPR63
name: Probable G-protein coupled receptor 63 (PSP24-2) (PSP24-beta)
length: 419
go: ENSG00000112218;
snps: rs35358396
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; G protein-coupled receptor activity [GO:0004930]


uniprotID: Q13325
geneSymbol: IFIT5
pdb: 3ZGQ;4HOQ;4HOR;4HOS;4HOT;4J0U;
length: 482
go: ENSG00000152778;
name:
Interferon-induced protein with tetratricopeptide repeats 5 (IFIT-5) (Interferon-induced 58 kDa protein) (Retinoic acid- and interferon-inducible 58 kDa protein) (P58)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; apical part of cell [GO:0045177]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; double-stranded DNA binding [GO:0003690]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; RNA cap binding [GO:0000339]; single-stranded RNA binding [GO:0003727]; tRNA binding [GO:0000049]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; negative regulation of viral genome replication [GO:0045071]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13325-1; Sequence=Displayed; Name=2; IsoId=Q13325-2; Sequence=VSP_056412; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, ruffle membrane {ECO:0000269|PubMed:23317505}. Note=Colocalized with DDX58/RIG-I at cell surface ruffles. Localizes to actin-rich protrusions from the apical cell surface.


uniprotID: Q6K0P9
geneSymbol: PYHIN1
name: Pyrin and HIN domain-containing protein 1 (Interferon-inducible protein X)
length: 492
go: ENSG00000163564;
sequence:

opentargets:
nuclear speck [GO:0016607]; protein-containing complex [GO:0032991]; ubiquitin protein ligase binding [GO:0031625]; cell cycle [GO:0007049]; cellular response to interferon-alpha [GO:0035457]; positive regulation of DNA binding [GO:0043388]; positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:1902164]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of ubiquitin-dependent protein catabolic process [GO:2000060]; protein destabilization [GO:0031648]; protein stabilization [GO:0050821]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=alpha1; IsoId=Q6K0P9-1; Sequence=Displayed; Name=2; Synonyms=alpha2; IsoId=Q6K0P9-2; Sequence=VSP_033657; Name=3; Synonyms=beta1; IsoId=Q6K0P9-3; Sequence=VSP_033660; Name=4; Synonyms=beta2; IsoId=Q6K0P9-4; Sequence=VSP_033657, VSP_033660; Name=5; Synonyms=gamma1; IsoId=Q6K0P9-5; Sequence=VSP_033658, VSP_033659; Name=6; Synonyms=gamma2; IsoId=Q6K0P9-6; Sequence=VSP_033657, VSP_033658, VSP_033659; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleoplasm.; SUBCELLULAR LOCATION: Isoform 3: Nucleus, nucleoplasm.; SUBCELLULAR LOCATION: Isoform 5: Nucleus. Nucleus speckle.


uniprotID: A6NMD0
geneSymbol: IFITM10
name: Interferon-induced transmembrane protein 10 (Dispanin subfamily A member 3) (DSPA3)
length: 228
go: ENSG00000244242;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:


uniprotID: P01570
geneSymbol: IFNA14
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
name: Interferon alpha-14 (IFN-alpha-14) (Interferon alpha-H) (LeIF H) (Interferon lambda-2-H)
length: 189
go: ENSG00000228083;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MALPFALMMALVVLSCKSSCSLGCNLSQTHSLNNRRTLMLMAQMRRISPFSCLKDRHDFEFPQEEFDGNQFQKAQAISVLHEMMQQTFNLFSTKNSSAAWDETLLEKFYIELFQQMNDLEACVIQEVGVEETPLMNEDSILAVKKYFQRITLYLMEKKYSPCAWEVVRAEIMRSLSFSTNLQKRLRRKD


uniprotID: P05013
geneSymbol: IFNA6
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
name: Interferon alpha-6 (IFN-alpha-6) (Interferon alpha-54) (Interferon alpha-K) (LeIF K)
length: 189
go: ENSG00000120235;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MALPFALLMALVVLSCKSSCSLDCDLPQTHSLGHRRTMMLLAQMRRISLFSCLKDRHDFRFPQEEFDGNQFQKAEAISVLHEVIQQTFNLFSTKDSSVAWDERLLDKLYTELYQQLNDLEACVMQEVWVGGTPLMNEDSILAVRKYFQRITLYLTEKKYSPCAWEVVRAEIMRSFSSSRNLQERLRRKE

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; type I interferon receptor binding [GO:0005132]; adaptive immune response [GO:0002250]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; blood coagulation [GO:0007596]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; humoral immune response [GO:0006959]; natural killer cell activation involved in immune response [GO:0002323]; positive regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033141]; response to exogenous dsRNA [GO:0043330]; T cell activation involved in immune response [GO:0002286]; type I interferon signaling pathway [GO:0060337]


uniprotID: P01567
geneSymbol: IFNA7
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
name: Interferon alpha-7 (IFN-alpha-7) (Interferon alpha-J) (LeIF J) (Interferon alpha-J1) (IFN-alpha-J1)
length: 189
go: ENSG00000214042;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MARSFSLLMVVLVLSYKSICSLGCDLPQTHSLRNRRALILLAQMGRISPFSCLKDRHEFRFPEEEFDGHQFQKTQAISVLHEMIQQTFNLFSTEDSSAAWEQSLLEKFSTELYQQLNDLEACVIQEVGVEETPLMNEDFILAVRKYFQRITLYLMEKKYSPCAWEVVRAEIMRSFSFSTNLKKGLRRKD

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; type I interferon receptor binding [GO:0005132]; adaptive immune response [GO:0002250]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; blood coagulation [GO:0007596]; cell-cell signaling [GO:0007267]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; humoral immune response [GO:0006959]; natural killer cell activation involved in immune response [GO:0002323]; positive regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033141]; response to exogenous dsRNA [GO:0043330]; response to virus [GO:0009615]; T cell activation involved in immune response [GO:0002286]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9NW75
geneSymbol: GPATCH2
name: G patch domain-containing protein 2
length: 528
go: ENSG00000092978;
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleic acid binding [GO:0003676]; negative regulation of phosphatase activity [GO:0010923]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NW75-1; Sequence=Displayed; Name=2; IsoId=Q9NW75-2; Sequence=VSP_010527, VSP_010528; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:19432882}. Nucleus, nucleolus {ECO:0000269|PubMed:19432882}.


uniprotID: Q9UKJ3
geneSymbol: GPATCH8
name: G patch domain-containing protein 8
length: 1502
go: ENSG00000186566;
opentargets: metal ion binding [GO:0046872]; RNA binding [GO:0003723]
snps: rs727502862 rs3744427 rs741902 rs936018 rs760339
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UKJ3-1; Sequence=Displayed; Name=2; IsoId=Q9UKJ3-2; Sequence=VSP_037683; Name=3; IsoId=Q9UKJ3-3; Sequence=VSP_037684, VSP_037685; 


uniprotID: P59796
geneSymbol: GPX6
reactome: R-HSA-3299685;
name: Glutathione peroxidase 6 (GPx-6) (GSHPx-6) (EC 1.11.1.9)
length: 221
go: ENSG00000198704;
drug: DB00143;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular region [GO:0005576]; glutathione peroxidase activity [GO:0004602]; response to oxidative stress [GO:0006979]

snps:
rs35510314 rs406113 rs34825130 rs6922986 rs35062161 rs35394555 rs36055795 rs35658392 rs34955392 rs35701070 


uniprotID: P01579
geneSymbol: IFNG
reactome: R-HSA-877300;R-HSA-877312;R-HSA-8877330;R-HSA-8950505;
pdb: 1EKU;1FG9;1FYH;1HIG;3BES;
name: Interferon gamma (IFN-gamma) (Immune interferon)
length: 166
go: ENSG00000111537;
drug: DB05676;DB05111;DB01296;DB01250;DB05110;
snps: rs201359065
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKYTSYILAFQLCIVLGSLGCYCQDPYVKEAENLKKYFNAGHSDVADNGTLFLGILKNWKEESDRKIMQSQIVSFYFKLFKNFKDDQSIQKSVETIKEDMNVKFFNSNKKKRDDFEKLTNYSVTDLNVQRKAIHELIQVMAELSPAAKTGKRKRSQMLFRGRRASQ

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; cytokine activity [GO:0005125]; interferon-gamma receptor binding [GO:0005133]; adaptive immune response [GO:0002250]; apoptotic process [GO:0006915]; cell cycle arrest [GO:0007050]; cell surface receptor signaling pathway [GO:0007166]; defense response to virus [GO:0051607]; extrinsic apoptotic signaling pathway [GO:0097191]; humoral immune response [GO:0006959]; interferon-gamma-mediated signaling pathway [GO:0060333]; interleukin-12-mediated signaling pathway [GO:0035722]; negative regulation of epithelial cell differentiation [GO:0030857]; negative regulation of gene expression [GO:0010629]; negative regulation of interleukin-17 production [GO:0032700]; negative regulation of smooth muscle cell proliferation [GO:0048662]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of autophagy [GO:0010508]; positive regulation of calcidiol 1-monooxygenase activity [GO:0060559]; positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response [GO:0032834]; positive regulation of cell proliferation [GO:0008284]; positive regulation of core promoter binding [GO:1904798]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of exosomal secretion [GO:1903543]; positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity [GO:0060550]; positive regulation of fructose 1,6-bisphosphate metabolic process [GO:0060552]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-23 production [GO:0032747]; positive regulation of killing of cells of other organism [GO:0051712]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033141]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of protein deacetylation [GO:0090312]; positive regulation of protein import into nucleus, translocation [GO:0033160]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of smooth muscle cell apoptotic process [GO:0034393]; positive regulation of tumor necrosis factor (ligand) superfamily member 11 production [GO:2000309]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; positive regulation of vitamin D biosynthetic process [GO:0060557]; protein import into nucleus, translocation [GO:0000060]; regulation of growth [GO:0040008]; regulation of insulin secretion [GO:0050796]; regulation of interferon-gamma-mediated signaling pathway [GO:0060334]; regulation of protein ADP-ribosylation [GO:0010835]; regulation of regulatory T cell differentiation [GO:0045589]; response to virus [GO:0009615]


uniprotID: Q13322
geneSymbol: GRB10
reactome: R-HSA-1433557;R-HSA-74713;R-HSA-74749;R-HSA-74751;R-HSA-8853659;
pdb: 1NRV;3HK0;
length: 594
go: ENSG00000106070;
snps: rs35647889 rs80244589 rs11768472
name:
Growth factor receptor-bound protein 10 (GRB10 adapter protein) (Insulin receptor-binding protein Grb-IR)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; insulin receptor binding [GO:0005158]; SH3/SH2 adaptor activity [GO:0005070]; axon guidance [GO:0007411]; insulin receptor signaling pathway [GO:0008286]; insulin-like growth factor receptor signaling pathway [GO:0048009]; negative regulation of glucose import [GO:0046325]; negative regulation of glycogen biosynthetic process [GO:0045719]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of phosphorylation [GO:0042326]; negative regulation of Wnt signaling pathway [GO:0030178]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of phosphorylation [GO:0042327]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; response to insulin [GO:0032868]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist, many of which involve splicing of 5' non-coding exons.; Name=3; Synonyms=Zeta; IsoId=Q13322-1; Sequence=Displayed; Name=1; Synonyms=Beta; IsoId=Q13322-2; Sequence=VSP_001843; Name=2; Synonyms=Gamma, Beta, SV-1; IsoId=Q13322-3; Sequence=VSP_001842; Name=4; Synonyms=Epsilon; IsoId=Q13322-4; Sequence=VSP_038784; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Note=When complexed with NEDD4 and IGF1R, follows IGF1R internalization, remaining associated with early endosomes. Uncouples from IGF1R-containing endosomes before the sorting of the receptor to the lysosomal compartment (By similarity). {ECO:0000250}.


uniprotID: Q9P0W0
geneSymbol: IFNK
name: Interferon kappa (IFN-kappa)
length: 207
go: ENSG00000147896;
snps: rs34933275 rs700785
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; type I interferon receptor binding [GO:0005132]; adaptive immune response [GO:0002250]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; humoral immune response [GO:0006959]; natural killer cell activation [GO:0030101]; natural killer cell activation involved in immune response [GO:0002323]; negative regulation of cell proliferation [GO:0008285]; positive regulation of innate immune response [GO:0045089]; positive regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033141]; regulation of transcription, DNA-templated [GO:0006355]; response to exogenous dsRNA [GO:0043330]; response to virus [GO:0009615]; T cell activation involved in immune response [GO:0002286]


uniprotID: Q8IZJ0
geneSymbol: IFNL2
reactome: R-HSA-8854691;
name: Interferon lambda-2 (IFN-lambda-2) (Cytokine Zcyto20) (Interleukin-28A) (IL-28A)
length: 200
go: ENSG00000183709;
snps: rs554971 rs8103362
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12483210}.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; cytokine activity [GO:0005125]; signaling receptor binding [GO:0005102]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; JAK-STAT cascade [GO:0007259]; mucosal immune response [GO:0002385]; positive regulation of immune response [GO:0050778]


uniprotID: Q8IZI9
geneSymbol: IFNL3
reactome: R-HSA-8854691;
pdb: 3HHC;5T5W;
length: 196
go: ENSG00000197110;
snps: rs629976 rs8103142
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12483210}.
name:
Interferon lambda-3 (IFN-lambda-3) (Cytokine Zcyto22) (Interleukin-28B) (IL-28B) (Interleukin-28C) (IL-28C)

sequence:
MTGDCMPVLVLMAAVLTVTGAVPVARLRGALPDARGCHIAQFKSLSPQELQAFKRAKDALEESLLLKDCKCRSRLFPRTWDLRQLQVRERPVALEAELALTLKVLEATADTDPALGDVLDQPLHTLHHILSQLRACIQPQPTAGPRTRGRLHHWLHRLQEAPKKESPGCLEASVTFNLFRLLTRDLNCVASGDLCV

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; cytokine activity [GO:0005125]; signaling receptor binding [GO:0005102]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; JAK-STAT cascade [GO:0007259]; negative regulation of viral genome replication [GO:0045071]; positive regulation of immune response [GO:0050778]


uniprotID: Q9NQC8
geneSymbol: IFT46
reactome: R-HSA-5620924;
name: Intraflagellar transport protein 46 homolog
length: 304
go: ENSG00000118096;
snps: rs11552421
sequence:

opentargets:
centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasm [GO:0005737]; intraciliary transport particle B [GO:0030992]; motile cilium [GO:0031514]; protein C-terminus binding [GO:0008022]; cilium assembly [GO:0060271]; intraciliary transport [GO:0042073]; intraciliary transport involved in cilium assembly [GO:0035735]; protein stabilization [GO:0050821]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQC8-1; Sequence=Displayed; Name=2; IsoId=Q9NQC8-2; Sequence=VSP_039859; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cell projection, cilium {ECO:0000250}. Note=Expression is concentrated at the cilium basal body but is also detected along the length of the cilium. {ECO:0000250}.


uniprotID: Q3V6T2
geneSymbol: CCDC88A
length: 1871
go: ENSG00000115355;
name:
Girdin (Akt phosphorylation enhancer) (APE) (Coiled-coil domain-containing protein 88A) (G alpha-interacting vesicle-associated protein) (GIV) (Girders of actin filament) (Hook-related protein 1) (HkRP1)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; membrane [GO:0016020]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; dynein light intermediate chain binding [GO:0051959]; microtubule binding [GO:0008017]; phosphatidylinositol binding [GO:0035091]; protein homodimerization activity [GO:0042803]; protein kinase B binding [GO:0043422]; activation of protein kinase B activity [GO:0032148]; cell migration [GO:0016477]; cytoplasmic microtubule organization [GO:0031122]; cytoskeleton-dependent intracellular transport [GO:0030705]; DNA replication [GO:0006260]; lamellipodium assembly [GO:0030032]; membrane organization [GO:0061024]; positive regulation of cilium assembly [GO:0045724]; positive regulation of protein localization to cilium [GO:1903566]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cell proliferation [GO:0042127]; regulation of DNA replication [GO:0006275]; regulation of neuron projection development [GO:0010975]; regulation of protein phosphorylation [GO:0001932]; TOR signaling [GO:0031929]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1 {ECO:0000269|PubMed:16139227}; IsoId=Q3V6T2-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15882442}; IsoId=Q3V6T2-2; Sequence=VSP_052409; Name=3; IsoId=Q3V6T2-3; Sequence=VSP_040129; Name=4; IsoId=Q3V6T2-4; Sequence=VSP_040129, VSP_052409; Name=5; IsoId=Q3V6T2-5; Sequence=VSP_040129, VSP_044943; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:15882442, ECO:0000269|PubMed:16139227}. Cell membrane {ECO:0000269|PubMed:15882442, ECO:0000269|PubMed:16139227}. Cytoplasm, cytosol {ECO:0000269|PubMed:15882442}. Cytoplasmic vesicle {ECO:0000269|PubMed:15749703, ECO:0000269|PubMed:15882442, ECO:0000269|PubMed:16139227}. Cell projection, lamellipodium {ECO:0000269|PubMed:15882442}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:27623382}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:27623382}. Note=Localizes to the cell membrane through interaction with phosphoinositides. {ECO:0000269|PubMed:15882442, ECO:0000269|PubMed:16139227}.


uniprotID: A0AVF1
geneSymbol: TTC26
reactome: R-HSA-5620924;
name: Intraflagellar transport protein 56 (Tetratricopeptide repeat protein 26) (TPR repeat protein 26)
length: 554
go: ENSG00000105948;
snps: rs13225917
sequence:

opentargets:
centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary base [GO:0097546]; ciliary tip [GO:0097542]; cilium [GO:0005929]; intraciliary transport particle B [GO:0030992]; motile cilium [GO:0031514]; intraciliary transport particle B binding [GO:0120170]; axoneme assembly [GO:0035082]; cilium assembly [GO:0060271]; intraciliary anterograde transport [GO:0035720]; intraciliary transport [GO:0042073]; intraciliary transport involved in cilium assembly [GO:0035735]; manchette assembly [GO:1905198]; protein localization to cilium [GO:0061512]; protein transport [GO:0015031]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A0AVF1-1; Sequence=Displayed; Name=2; IsoId=A0AVF1-2; Sequence=VSP_043751; Note=No experimental confirmation available.; Name=3; IsoId=A0AVF1-3; Sequence=VSP_044791; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q8BS45}. Note=Localizes at the base to the ciliary transition zone. {ECO:0000250|UniProtKB:Q8BS45}.


uniprotID: P01877
geneSymbol: IGHA2
reactome: R-HSA-202733;R-HSA-2168880;
pdb: 3CM9;
length: 340
go: ENSG00000211890;
drug: DB04676;
name:
Immunoglobulin heavy constant alpha 2 (Ig alpha-2 chain C region) (Ig alpha-2 chain C region BUT) (Ig alpha-2 chain C region LAN)

sequence:

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; immunoglobulin complex, circulating [GO:0042571]; monomeric IgA immunoglobulin complex [GO:0071748]; secretory dimeric IgA immunoglobulin complex [GO:0071752]; secretory IgA immunoglobulin complex [GO:0071751]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; antibacterial humoral response [GO:0019731]; B cell receptor signaling pathway [GO:0050853]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; glomerular filtration [GO:0003094]; immune response [GO:0006955]; innate immune response [GO:0045087]; leukocyte migration [GO:0050900]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]; positive regulation of respiratory burst [GO:0060267]; receptor-mediated endocytosis [GO:0006898]; retina homeostasis [GO:0001895]


uniprotID: P01880
geneSymbol: IGHD
reactome: R-HSA-5690714;R-HSA-983695;
pdb: 1ZVO;
length: 384
go: ENSG00000211898;
name:
Immunoglobulin heavy constant delta (Ig delta chain C region) (Ig delta chain C region NIG-65) (Ig delta chain C region WAH)

sequence:

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; immunoglobulin complex, circulating [GO:0042571]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; B cell receptor signaling pathway [GO:0050853]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; immune response [GO:0006955]; innate immune response [GO:0045087]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]; positive regulation of interleukin-1 secretion [GO:0050716]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Secreted, sIgD {ECO:0000303|PubMed:11282392}; IsoId=P01880-1; Sequence=Displayed; Name=2; Synonyms=Membrane-bound, mIgD {ECO:0000303|PubMed:11282392}; IsoId=P01880-2; Sequence=VSP_034489; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted {ECO:0000303|PubMed:11282392}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass type I membrane protein {ECO:0000303|PubMed:11282392}.


uniprotID: O60565
geneSymbol: GREM1
pdb: 5AEJ;
length: 184
go: ENSG00000166923;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Gremlin-1 (Cell proliferation-inducing gene 2 protein) (Cysteine knot superfamily 1, BMP antagonist 1) (DAN domain family member 2) (Down-regulated in Mos-transformed cells protein) (Increased in high glucose protein 2) (IHG-2)

sequence:
MSRTAYTVGALLLLLGTLLPAAEGKKKGSQGAIPPPDKAQHNDSEQTQSPQQPGSRNRGRGQGRGTAMPGEEVLESSQEALHVTERKYLKRDWCKTQPLKQTIHEEGCNSRTIINRFCYGQCNSFYIPRHIRKEEGSFQSCSFCKPKKFTTMMVTLNCPELQPPTKKKRVTRVKQCRCISIDLD

opentargets:
cell surface [GO:0009986]; extracellular space [GO:0005615]; intracellular [GO:0005622]; BMP binding [GO:0036122]; cytokine activity [GO:0005125]; morphogen activity [GO:0016015]; protein homodimerization activity [GO:0042803]; receptor ligand activity [GO:0048018]; transmembrane receptor protein tyrosine kinase activator activity [GO:0030297]; vascular endothelial growth factor receptor 2 binding [GO:0043184]; apoptotic process [GO:0006915]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell migration involved in sprouting angiogenesis [GO:0002042]; cell morphogenesis [GO:0000902]; cell-cell signaling [GO:0007267]; collagen fibril organization [GO:0030199]; determination of dorsal identity [GO:0048263]; embryonic limb morphogenesis [GO:0030326]; limb development [GO:0060173]; mesenchymal to epithelial transition involved in metanephros morphogenesis [GO:0003337]; negative regulation of apoptotic process [GO:0043066]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of bone mineralization [GO:0030502]; negative regulation of bone mineralization involved in bone maturation [GO:1900158]; negative regulation of bone remodeling [GO:0046851]; negative regulation of bone trabecula formation [GO:1900155]; negative regulation of branching involved in ureteric bud morphogenesis [GO:0090191]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell growth [GO:0030308]; negative regulation of chondrocyte differentiation [GO:0032331]; negative regulation of monocyte chemotaxis [GO:0090027]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of osteoblast proliferation [GO:0033689]; negative regulation of osteoclast proliferation [GO:0090291]; negative regulation of pathway-restricted SMAD protein phosphorylation [GO:0060394]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of angiogenesis [GO:0045766]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of cardiac muscle cell differentiation [GO:2000727]; positive regulation of cell proliferation [GO:0008284]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of peptidyl-tyrosine autophosphorylation [GO:1900086]; positive regulation of receptor internalization [GO:0002092]; positive regulation of signaling receptor activity [GO:2000273]; positive regulation of telomerase activity [GO:0051973]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation [GO:0003257]; proximal/distal pattern formation [GO:0009954]; regulation of epithelial to mesenchymal transition [GO:0010717]; regulation of focal adhesion assembly [GO:0051893]; signal transduction [GO:0007165]; ureteric bud formation [GO:0060676]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60565-1; Sequence=Displayed; Name=2; IsoId=O60565-2; Sequence=VSP_013321; Note=No experimental confirmation available.; 


uniprotID: P01861
geneSymbol: IGHG4
reactome: R-HSA-166663;R-HSA-173623;R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-6785807;R-HSA-977606;
pdb: 1ADQ;1BBJ;2FL5;3EO1;4B53;4C54;4C55;4D2N;5LG1;5W5M;5W5N;
name: Immunoglobulin heavy constant gamma 4 (Ig gamma-4 chain C region)
length: 327
go: ENSG00000211892;
sequence:

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; immunoglobulin complex, circulating [GO:0042571]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; serine-type endopeptidase activity [GO:0004252]; B cell receptor signaling pathway [GO:0050853]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; cytokine-mediated signaling pathway [GO:0019221]; defense response to bacterium [GO:0042742]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; innate immune response [GO:0045087]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]; regulation of complement activation [GO:0030449]


uniprotID: P0DOX7
pdb: 5VIC;5VIG;5W1K;6BF7;6BF9;
name: Immunoglobulin kappa light chain (Immunoglobulin kappa light chain EU)
length: 214
sequence:


uniprotID: P0DOY2
geneSymbol: IGLC2
length: 106
pdb:
1JVK;1LIL;1ZVO;2JB5;2JB6;3C2A;3TV3;3TWC;3TYG;4EOW;4LLD;4LLM;4LLQ;4LLU;4LLW;4LLY;4O58;4O5I;5IQ7;5IQ9;6DE7;

name:
Immunoglobulin lambda constant 2 (Ig lambda chain C region Kern) (Ig lambda chain C region NIG-64) (Ig lambda chain C region SH) (Ig lambda chain C region X) (Ig lambda-2 chain C region)

sequence:
GQPKAAPSVTLFPPSSEELQANKATLVCLISDFYPGAVTVAWKADSSPVKAGVETTTPSKQSNNKYAASSYLSLTPEQWKSHRSYSCQVTHEGSTVEKTVAPTECS

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; immunoglobulin complex, circulating [GO:0042571]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; B cell receptor signaling pathway [GO:0050853]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; innate immune response [GO:0045087]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]


uniprotID: P0DOY3
geneSymbol: IGLC3
pdb: 1AQK;7FAB;
length: 106
name:
Immunoglobulin lambda constant 3 (Ig lambda chain C region DOT) (Ig lambda chain C region NEWM) (Ig lambda-3 chain C regions)

sequence:
GQPKAAPSVTLFPPSSEELQANKATLVCLISDFYPGAVTVAWKADSSPVKAGVETTTPSKQSNNKYAASSYLSLTPEQWKSHKSYSCQVTHEGSTVEKTVAPTECS

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; immunoglobulin complex, circulating [GO:0042571]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; B cell receptor signaling pathway [GO:0050853]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; innate immune response [GO:0045087]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]


uniprotID: A0M8Q6
geneSymbol: IGLC7
name: Immunoglobulin lambda constant 7 (Ig lambda-7 chain C region)
length: 106
sequence:
GQPKAAPSVTLFPPSSEELQANKATLVCLVSDFNPGAVTVAWKADGSPVKVGVETTKPSKQSNNKYAASSYLSLTPEQWKSHRSYSCRVTHEGSTVEKTVAPAECS

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; immunoglobulin complex, circulating [GO:0042571]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; serine-type endopeptidase activity [GO:0004252]; B cell receptor signaling pathway [GO:0050853]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; innate immune response [GO:0045087]; leukocyte migration [GO:0050900]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: Q16478
geneSymbol: GRIK5
reactome: R-HSA-451308;
length: 980
go: ENSG00000105737;
drug: DB00142;
name:
Glutamate receptor ionotropic, kainate 5 (GluK5) (Excitatory amino acid receptor 2) (EAA2) (Glutamate receptor KA-2) (KA2)

sequence:

opentargets:
cell junction [GO:0030054]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of postsynaptic density membrane [GO:0099061]; integral component of presynaptic membrane [GO:0099056]; kainate selective glutamate receptor complex [GO:0032983]; nucleus [GO:0005634]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; terminal bouton [GO:0043195]; glutamate receptor activity [GO:0008066]; identical protein binding [GO:0042802]; kainate selective glutamate receptor activity [GO:0015277]; ligand-gated ion channel activity [GO:0015276]; PDZ domain binding [GO:0030165]; SH3 domain binding [GO:0017124]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; cellular response to glucose stimulus [GO:0071333]; establishment of localization in cell [GO:0051649]; excitatory postsynaptic potential [GO:0060079]; modulation of chemical synaptic transmission [GO:0050804]; positive regulation of neuron apoptotic process [GO:0043525]; protein retention in ER lumen [GO:0006621]; receptor clustering [GO:0043113]; regulation of synaptic vesicle fusion to presynaptic active zone membrane [GO:0031630]; synaptic transmission, glutamatergic [GO:0035249]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16478-1; Sequence=Displayed; Name=2; IsoId=Q16478-2; Sequence=VSP_035585; Note=No experimental confirmation available.; 


uniprotID: Q7Z2K8
geneSymbol: GPRIN1
name: G protein-regulated inducer of neurite outgrowth 1 (GRIN1)
length: 1008
go: ENSG00000169258;
snps: rs17854765 rs6556276 rs10037225 rs34285890
sequence:

opentargets:
growth cone [GO:0030426]; plasma membrane [GO:0005886]; phosphoprotein binding [GO:0051219]; neuron projection development [GO:0031175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z2K8-1; Sequence=Displayed; Name=2; IsoId=Q7Z2K8-2; Sequence=VSP_018546, VSP_018547; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Note=Highly enriched in growth cone. {ECO:0000250}.


uniprotID: Q9Y3R0
geneSymbol: GRIP1
reactome: R-HSA-416993;
pdb: 2JIL;
name: Glutamate receptor-interacting protein 1 (GRIP-1)
length: 1128
go: ENSG00000155974;
snps: rs17102531
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; glutamatergic synapse [GO:0098978]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; androgen receptor binding [GO:0050681]; beta-catenin binding [GO:0008013]; glucocorticoid receptor binding [GO:0035259]; protein C-terminus binding [GO:0008022]; receptor signaling complex scaffold activity [GO:0030159]; transcription coactivator activity [GO:0003713]; androgen receptor signaling pathway [GO:0030521]; dendrite development [GO:0016358]; intracellular signal transduction [GO:0035556]; neurotransmitter receptor transport, endosome to postsynaptic membrane [GO:0098887]; positive regulation of neuron projection arborization [GO:0150012]; positive regulation of transcription, DNA-templated [GO:0045893]; vesicle-mediated transport in synapse [GO:0099003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y3R0-1; Sequence=Displayed; Name=2; IsoId=Q9Y3R0-2; Sequence=VSP_009743; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y3R0-3; Sequence=VSP_040281; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000269|PubMed:10197531}. Endoplasmic reticulum {ECO:0000269|PubMed:10197531}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Note=Cytoplasmic and membrane-associated with vesicles, peri-Golgi complexes and endoplasmic reticulum. Enriched in postsynaptic plasma membrane and postsynaptic densities (By similarity). {ECO:0000250}.


uniprotID: Q3KR37
geneSymbol: GRAMD1B
name: GRAM domain-containing protein 1B
length: 738
go: ENSG00000023171;
opentargets: integral component of membrane [GO:0016021]; membrane [GO:0016020]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q3KR37-1; Sequence=Displayed; Name=2; IsoId=Q3KR37-2; Sequence=VSP_025470; Note=No experimental confirmation available.; Name=3; IsoId=Q3KR37-3; Sequence=VSP_025469, VSP_025471, VSP_025472; Note=No experimental confirmation available.; Name=4; IsoId=Q3KR37-4; Sequence=VSP_057573; 


uniprotID: O00222
geneSymbol: GRM8
reactome: R-HSA-418594;R-HSA-420499;
pdb: 6BSZ;6BT5;
name: Metabotropic glutamate receptor 8 (mGluR8)
length: 908
go: ENSG00000179603;
drug: DB00142;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; G protein-coupled receptor activity [GO:0004930]; glutamate receptor activity [GO:0008066]; adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway [GO:0007196]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of synaptic transmission, glutamatergic [GO:0051966]; visual perception [GO:0007601]

snps:
rs769194 rs769202 rs17150343 rs13309334 rs78124913 rs78947184 rs2234947 rs75863532 rs2234948 rs1051433 rs10225567 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; Synonyms=mGluR8a; IsoId=O00222-1; Sequence=Displayed; Name=B; Synonyms=mGluR8b; IsoId=O00222-2; Sequence=VSP_002032; Name=C; Synonyms=mGluR8c; IsoId=O00222-3; Sequence=VSP_002033, VSP_002034; 


uniprotID: P34947
geneSymbol: GRK5
reactome: R-HSA-416476;R-HSA-418555;
pdb: 4TNB;4TND;
name: G protein-coupled receptor kinase 5 (EC 2.7.11.16) (G protein-coupled receptor kinase GRK5)
length: 590
go: ENSG00000198873;
snps: rs2230345 rs55980792 rs55902633 rs34679178 rs56254855 rs2230349
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; beta-adrenergic receptor kinase activity [GO:0047696]; G protein-coupled receptor kinase activity [GO:0004703]; phospholipid binding [GO:0005543]; protein kinase C binding [GO:0005080]; protein serine/threonine kinase activity [GO:0004674]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; apoptotic process [GO:0006915]; fat cell differentiation [GO:0045444]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cell proliferation [GO:0008284]; protein autophosphorylation [GO:0046777]; regulation of cell cycle [GO:0051726]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; tachykinin receptor signaling pathway [GO:0007217]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein. Note=Predominantly localized at the plasma membrane; targeted to the cell surface through the interaction with phospholipids. Nucleus localization is regulated in a GPCR and Ca(2+)/calmodulin-dependent fashion.


uniprotID: Q8IUY3
geneSymbol: GRAMD2A
name: GRAM domain-containing protein 2A
length: 354
go: ENSG00000175318;
sequence:

opentargets:
extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; integral component of membrane [GO:0016021]; intrinsic component of endoplasmic reticulum membrane [GO:0031227]; organelle membrane contact site [GO:0044232]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; endoplasmic reticulum-plasma membrane tethering [GO:0061817]; regulation of store-operated calcium entry [GO:2001256]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:29469807}; Single-pass membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:29469807}; Peripheral membrane protein {ECO:0000269|PubMed:29469807}. Note=Localizes to puncta in the cell periphery representing endoplasmic reticulum (ER)-plasma membrane (PM) membrane contact sites (MCS). Anchored at the ER, PM binding is mediated via GRAM domain and phosphatidylinositol lipid interaction. Localizes to distinct ER-PM MCSs than GRAMD1A. {ECO:0000269|PubMed:29469807}.


uniprotID: P09341
geneSymbol: CXCL1
reactome: R-HSA-380108;R-HSA-418594;R-HSA-6783783;R-HSA-6798695;
pdb: 1MGS;1MSG;1MSH;1ROD;
length: 107
go: ENSG00000163739;
location: SUBCELLULAR LOCATION: Secreted.
name:
Growth-regulated alpha protein (C-X-C motif chemokine 1) (GRO-alpha(1-73)) (Melanoma growth stimulatory activity) (MGSA) (Neutrophil-activating protein 3) (NAP-3) [Cleaved into: GRO-alpha(4-73); GRO-alpha(5-73); GRO-alpha(6-73)]

sequence:
MARAALSAAPSNPRLLRVALLLLLLVAAGRRAAGASVATELRCQCLQTLQGIHPKNIQSVNVKSPGPHCAQTEVIATLKNGRKACLNPASPIVKKIIEKMLNSDKSN

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; chemokine activity [GO:0008009]; enzyme activator activity [GO:0008047]; growth factor activity [GO:0008083]; signaling receptor binding [GO:0005102]; actin cytoskeleton organization [GO:0030036]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell proliferation [GO:0008283]; cellular response to lipopolysaccharide [GO:0071222]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; killing of cells of other organism [GO:0031640]; leukocyte chemotaxis [GO:0030595]; negative regulation of cell proliferation [GO:0008285]; nervous system development [GO:0007399]; neutrophil chemotaxis [GO:0030593]; neutrophil degranulation [GO:0043312]; signal transduction [GO:0007165]


uniprotID: Q14833
geneSymbol: GRM4
reactome: R-HSA-418594;R-HSA-420499;
name: Metabotropic glutamate receptor 4 (mGluR4)
length: 912
go: ENSG00000124493;
drug: DB00142;
snps: rs452752 rs149730753
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; G protein-coupled receptor activity [GO:0004930]; glutamate receptor activity [GO:0008066]; activation of MAPK activity [GO:0000187]; adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway [GO:0007196]; chemical synaptic transmission [GO:0007268]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; G protein-coupled receptor signaling pathway [GO:0007186]; neurotransmitter secretion [GO:0007269]; positive regulation of MAPK cascade [GO:0043410]; regulation of neuron apoptotic process [GO:0043523]; regulation of synaptic transmission, glutamatergic [GO:0051966]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q14833-1; Sequence=Displayed; Name=2; IsoId=Q14833-2; Sequence=VSP_044740, VSP_044741; Note=No experimental confirmation available.; Name=3; IsoId=Q14833-3; Sequence=VSP_045218; Name=4; IsoId=Q14833-4; Sequence=VSP_046762; Note=No experimental confirmation available.; Name=5; IsoId=Q14833-5; Sequence=VSP_046761, VSP_046763; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:7617140, ECO:0000269|PubMed:8738157}; Multi-pass membrane protein {ECO:0000269|PubMed:7617140, ECO:0000269|PubMed:8738157}.


uniprotID: Q8TAA5
geneSymbol: GRPEL2
reactome: R-HSA-1268020;
name: GrpE protein homolog 2, mitochondrial (Mt-GrpE#2)
length: 225
go: ENSG00000164284;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
sequence:

opentargets:
mitochondrion [GO:0005739]; PAM complex, Tim23 associated import motor [GO:0001405]; adenyl-nucleotide exchange factor activity [GO:0000774]; chaperone binding [GO:0051087]; protein homodimerization activity [GO:0042803]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]; protein import into mitochondrial matrix [GO:0030150]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TAA5-1; Sequence=Displayed; Name=2; IsoId=Q8TAA5-2; Sequence=VSP_057020, VSP_057021; Note=No experimental confirmation available.; 


uniprotID: Q6NXR0
geneSymbol: IRGC
name: Interferon-inducible GTPase 5 (EC 3.6.5.-) (Immunity-related GTPase cinema 1)
length: 463
go: ENSG00000124449;
opentargets: membrane [GO:0016020]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]
drug: DB03814;DB04315;
snps: rs11555891
sequence:


uniprotID: P25963
geneSymbol: NFKBIA
pdb: 1IKN;1NFI;
length: 317
go: ENSG00000100906;
drug: DB00945;
snps: rs28933100
reactome:
R-HSA-1169091;R-HSA-1810476;R-HSA-202424;R-HSA-209560;R-HSA-2871837;R-HSA-445989;R-HSA-4755510;R-HSA-5603029;R-HSA-5607764;R-HSA-5689880;R-HSA-9020702;R-HSA-933542;

name:
NF-kappa-B inhibitor alpha (I-kappa-B-alpha) (IkB-alpha) (IkappaBalpha) (Major histocompatibility complex enhancer-binding protein MAD3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; I-kappaB/NF-kappaB complex [GO:0033256]; intracellular [GO:0005622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; NF-kappaB binding [GO:0051059]; nuclear localization sequence binding [GO:0008139]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; apoptotic process [GO:0006915]; cellular response to cold [GO:0070417]; cytoplasmic sequestering of NF-kappaB [GO:0007253]; cytoplasmic sequestering of transcription factor [GO:0042994]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; interleukin-1-mediated signaling pathway [GO:0070498]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; negative regulation of apoptotic process [GO:0043066]; negative regulation of DNA binding [GO:0043392]; negative regulation of lipid storage [GO:0010888]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of Notch signaling pathway [GO:0045746]; nucleotide-binding oligomerization domain containing 1 signaling pathway [GO:0070427]; nucleotide-binding oligomerization domain containing 2 signaling pathway [GO:0070431]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of inflammatory response [GO:0050729]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; protein import into nucleus, translocation [GO:0000060]; regulation of cell proliferation [GO:0042127]; regulation of NIK/NF-kappaB signaling [GO:1901222]; response to exogenous dsRNA [GO:0043330]; response to muramyl dipeptide [GO:0032495]; response to muscle stretch [GO:0035994]; toll-like receptor 4 signaling pathway [GO:0034142]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm by a nuclear localization signal (NLS) and a CRM1-dependent nuclear export. {ECO:0000250}.


uniprotID: Q15653
geneSymbol: NFKBIB
reactome: R-HSA-1169091;R-HSA-1810476;R-HSA-445989;R-HSA-933542;
length: 356
go: ENSG00000104825;
snps: rs17886215
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
NF-kappa-B inhibitor beta (NF-kappa-BIB) (I-kappa-B-beta) (IkB-B) (IkB-beta) (IkappaBbeta) (Thyroid receptor-interacting protein 9) (TR-interacting protein 9) (TRIP-9)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; transcription coactivator activity [GO:0003713]; cellular response to lipopolysaccharide [GO:0071222]; signal transduction [GO:0007165]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15653-1; Sequence=Displayed; Name=2; IsoId=Q15653-2; Sequence=VSP_012409, VSP_012410; 


uniprotID: Q8NI38
geneSymbol: NFKBID
length: 313
go: ENSG00000167604;
snps: rs8113704
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q2TB02}.
name:
NF-kappa-B inhibitor delta (I-kappa-B-delta) (IkB-delta) (IkappaBdelta) (IkappaBNS) (T-cell activation NFKB-like protein) (TA-NFKBH)

sequence:

opentargets:
nucleus [GO:0005634]; NF-kappaB binding [GO:0051059]; inflammatory response [GO:0006954]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of T cell differentiation in thymus [GO:0033085]; positive regulation of T-helper 17 cell differentiation [GO:2000321]; positive regulation of thymocyte apoptotic process [GO:0070245]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NI38-1; Sequence=Displayed; Name=2; IsoId=Q8NI38-2; Sequence=VSP_033144; Note=No experimental confirmation available.; Name=3; IsoId=Q8NI38-3; Sequence=VSP_033143, VSP_033145; 


uniprotID: O00221
geneSymbol: NFKBIE
reactome: R-HSA-1169091;
length: 500
go: ENSG00000146232;
snps: rs28362857 rs2233434
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
NF-kappa-B inhibitor epsilon (NF-kappa-BIE) (I-kappa-B-epsilon) (IkB-E) (IkB-epsilon) (IkappaBepsilon)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; Golgi apparatus [GO:0005794]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; cytoplasmic sequestering of transcription factor [GO:0042994]; D-serine transport [GO:0042942]


uniprotID: Q9UBC1
geneSymbol: NFKBIL1
length: 381
snps: rs3130062
name:
NF-kappa-B inhibitor-like protein 1 (Inhibitor of kappa B-like protein) (I-kappa-B-like protein) (IkappaBL) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; cellular response to lipopolysaccharide [GO:0071222]; cytoplasmic sequestering of transcription factor [GO:0042994]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; negative regulation of lipopolysaccharide-mediated signaling pathway [GO:0031665]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; negative regulation of tumor necrosis factor production [GO:0032720]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UBC1-1; Sequence=Displayed; Name=2; IsoId=Q9UBC1-2; Sequence=VSP_041075; Name=3; IsoId=Q9UBC1-3; Sequence=VSP_046261; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20829348}. Note=Nuclear localization with a speckled expression pattern in some cells. Colocalizes with CACTIN in the nucleus.


uniprotID: O14920
geneSymbol: IKBKB
pdb: 3BRT;3BRV;4E3C;4KIK;
length: 756
go: ENSG00000104365;
drug: DB06151;DB00945;DB01169;DB00995;DB00244;DB05183;DB00795;
snps: rs56411242 rs2272736 rs17875749 rs34309584 rs56301637 rs17611716
reactome:
R-HSA-1169091;R-HSA-1236974;R-HSA-168638;R-HSA-168927;R-HSA-1810476;R-HSA-202424;R-HSA-209543;R-HSA-209560;R-HSA-2871837;R-HSA-445989;R-HSA-5357905;R-HSA-5357956;R-HSA-5602636;R-HSA-5603027;R-HSA-5603029;R-HSA-5607764;R-HSA-5684264;R-HSA-9020702;R-HSA-933542;R-HSA-933543;R-HSA-937039;R-HSA-937041;R-HSA-975144;

name:
Inhibitor of nuclear factor kappa-B kinase subunit beta (I-kappa-B-kinase beta) (IKK-B) (IKK-beta) (IkBKB) (EC 2.7.11.10) (I-kappa-B kinase 2) (IKK2) (Nuclear factor NF-kappa-B inhibitor kinase beta) (NFKBIKB)

sequence:

opentargets:
CD40 receptor complex [GO:0035631]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; IkappaB kinase complex [GO:0008385]; membrane raft [GO:0045121]; nucleus [GO:0005634]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; IkappaB kinase activity [GO:0008384]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; scaffold protein binding [GO:0097110]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; cellular response to tumor necrosis factor [GO:0071356]; cortical actin cytoskeleton organization [GO:0030866]; Fc-epsilon receptor signaling pathway [GO:0038095]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-1-mediated signaling pathway [GO:0070498]; MyD88-independent toll-like receptor signaling pathway [GO:0002756]; negative regulation of apoptotic process [GO:0043066]; negative regulation of bicellular tight junction assembly [GO:1903347]; negative regulation of myosin-light-chain-phosphatase activity [GO:0035509]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein localization to plasma membrane [GO:0072659]; protein phosphorylation [GO:0006468]; regulation of establishment of endothelial barrier [GO:1903140]; regulation of phosphorylation [GO:0042325]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; response to virus [GO:0009615]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; stress-activated MAPK cascade [GO:0051403]; T cell receptor signaling pathway [GO:0050852]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O14920-1; Sequence=Displayed; Name=2; IsoId=O14920-2; Sequence=VSP_041825; Name=3; IsoId=O14920-3; Sequence=VSP_041826, VSP_041827; Name=4; IsoId=O14920-4; Sequence=VSP_043408; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20797629}. Nucleus {ECO:0000269|PubMed:20797629}. Membrane raft {ECO:0000269|PubMed:17287217}. Note=Colocalized with DPP4 in membrane rafts. {ECO:0000269|PubMed:17287217}.


uniprotID: Q12849
geneSymbol: GRSF1
reactome: R-HSA-192823;
pdb: 2LMI;4QU6;4QU7;
name: G-rich sequence factor 1 (GRSF-1)
length: 480
go: ENSG00000132463;
snps: rs17854012
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; ribonucleoprotein granule [GO:0035770]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; anterior/posterior pattern specification [GO:0009952]; morphogenesis of embryonic epithelium [GO:0016331]; mRNA polyadenylation [GO:0006378]; tRNA processing [GO:0008033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12849-1; Sequence=Displayed; Name=2; IsoId=Q12849-5; Sequence=VSP_043118; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:25683715}. Note=Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids. {ECO:0000269|PubMed:25683715}.


uniprotID: P22301
geneSymbol: IL10
reactome: R-HSA-6783783;R-HSA-6785807;R-HSA-8950505;
pdb: 1ILK;1INR;1J7V;1LK3;1Y6K;2H24;2ILK;
name: Interleukin-10 (IL-10) (Cytokine synthesis inhibitory factor) (CSIF)
length: 178
go: ENSG00000136634;
drug: DB05066;DB05744;DB05771;
snps: rs145922845
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MHSSALLCCLVLLTGVRASPGQGTQSENSCTHFPGNLPNMLRDLRDAFSRVKTFFQMKDQLDNLLLKESLLEDFKGYLGCQALSEMIQFYLEEVMPQAENQDPDIKAHVNSLGENLKTLRLRLRRCHRFLPCENKSKAVEQVKNAFNKLQEKGIYKAMSEFDIFINYIEAYMTMKIRN

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; interleukin-10 receptor binding [GO:0005141]; aging [GO:0007568]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; branching involved in labyrinthine layer morphogenesis [GO:0060670]; cellular response to estradiol stimulus [GO:0071392]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; cytoplasmic sequestering of NF-kappaB [GO:0007253]; defense response to bacterium [GO:0042742]; defense response to protozoan [GO:0042832]; endothelial cell apoptotic process [GO:0072577]; hemopoiesis [GO:0030097]; inflammatory response [GO:0006954]; interleukin-12-mediated signaling pathway [GO:0035722]; leukocyte chemotaxis [GO:0030595]; liver regeneration [GO:0097421]; negative regulation of apoptotic process [GO:0043066]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of cell proliferation [GO:0008285]; negative regulation of chemokine (C-C motif) ligand 5 production [GO:0071650]; negative regulation of chronic inflammatory response to antigenic stimulus [GO:0002875]; negative regulation of cytokine activity [GO:0060302]; negative regulation of cytokine secretion involved in immune response [GO:0002740]; negative regulation of growth of symbiont in host [GO:0044130]; negative regulation of heterotypic cell-cell adhesion [GO:0034115]; negative regulation of hydrogen peroxide-induced neuron death [GO:1903208]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interferon-alpha biosynthetic process [GO:0045355]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of interleukin-1 production [GO:0032692]; negative regulation of interleukin-12 production [GO:0032695]; negative regulation of interleukin-18 production [GO:0032701]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of interleukin-8 production [GO:0032717]; negative regulation of membrane protein ectodomain proteolysis [GO:0051045]; negative regulation of MHC class II biosynthetic process [GO:0045347]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of myeloid dendritic cell activation [GO:0030886]; negative regulation of nitric oxide biosynthetic process [GO:0045019]; negative regulation of sensory perception of pain [GO:1904057]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of tumor necrosis factor biosynthetic process [GO:0042536]; negative regulation of tumor necrosis factor production [GO:0032720]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; positive regulation of B cell apoptotic process [GO:0002904]; positive regulation of cell cycle [GO:0045787]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of heterotypic cell-cell adhesion [GO:0034116]; positive regulation of macrophage activation [GO:0043032]; positive regulation of MHC class II biosynthetic process [GO:0045348]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of sprouting angiogenesis [GO:1903672]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; receptor biosynthetic process [GO:0032800]; regulation of gene expression [GO:0010468]; regulation of isotype switching [GO:0045191]; regulation of response to wounding [GO:1903034]; regulation of synapse organization [GO:0050807]; response to activity [GO:0014823]; response to carbon monoxide [GO:0034465]; response to glucocorticoid [GO:0051384]; response to inactivity [GO:0014854]; response to insulin [GO:0032868]; response to molecule of bacterial origin [GO:0002237]; type 2 immune response [GO:0042092]


uniprotID: Q16552
geneSymbol: IL17A
reactome: R-HSA-448424;R-HSA-6785807;
pdb: 2VXS;4HR9;4HSA;4QHU;5HHV;5HHX;5HI3;5HI4;5HI5;5N92;5NAN;5VB9;
name: Interleukin-17A (IL-17) (IL-17A) (Cytotoxic T-lymphocyte-associated antigen 8) (CTLA-8)
length: 155
go: ENSG00000112115;
drug: DB11569;DB09029;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MTPGKTSLVSLLLLLSLEAIVKAGITIPRNPGCPNSEDKNFPRTVMVNLNIHNRNTNTNPKRSSDYYNRSTSPWNLHRNEDPERYPSVIWEAKCRHLGCINADGNVDYHMNSVPIQQEILVLRREPPHCPNSFRLEKILVSVGCTCVTPIVHHVA

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; apoptotic process [GO:0006915]; cell death [GO:0008219]; cell-cell signaling [GO:0007267]; cytokine-mediated signaling pathway [GO:0019221]; fibroblast activation [GO:0072537]; immune response [GO:0006955]; inflammatory response [GO:0006954]; interleukin-17-mediated signaling pathway [GO:0097400]; positive regulation of interleukin-23 production [GO:0032747]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q13478
geneSymbol: IL18R1
reactome: R-HSA-9008059;R-HSA-9012546;
pdb: 3WO3;3WO4;4R6U;
length: 541
go: ENSG00000115604;
snps: rs11465635 rs11465644 rs11465648 rs12619169
name:
Interleukin-18 receptor 1 (IL-18R-1) (IL-18R1) (CD218 antigen-like family member A) (CDw218a) (IL1 receptor-related protein) (IL-1Rrp) (IL1R-rp) (Interleukin-18 receptor alpha) (IL-18R-alpha) (IL-18Ralpha) (CD antigen CD218a)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; interleukin-1 receptor activity [GO:0004908]; interleukin-18 binding [GO:0042007]; interleukin-18 receptor activity [GO:0042008]; signaling receptor activity [GO:0038023]; cellular response to cytokine stimulus [GO:0071345]; immune response [GO:0006955]; inflammatory response [GO:0006954]; interleukin-18-mediated signaling pathway [GO:0035655]; natural killer cell activation [GO:0030101]; negative regulation of cold-induced thermogenesis [GO:0120163]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of T-helper 1 cell cytokine production [GO:2000556]; signal transduction [GO:0007165]; T-helper 1 cell differentiation [GO:0045063]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:14528293}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: Q14116
geneSymbol: IL18
reactome: R-HSA-448706;R-HSA-6783783;R-HSA-6785807;R-HSA-9012546;
pdb: 1J0S;2VXT;3F62;3WO2;3WO3;3WO4;4EEE;4EKX;4HJJ;4R6U;4XFS;4XFT;4XFU;
length: 193
go: ENSG00000150782;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:23955712}.
name:
Interleukin-18 (IL-18) (Iboctadekin) (Interferon gamma-inducing factor) (IFN-gamma-inducing factor) (Interleukin-1 gamma) (IL-1 gamma)

sequence:
MAAEPVEDNCINFVAMKFIDNTLYFIAEDDENLESDYFGKLESKLSVIRNLNDQVLFIDQGNRPLFEDMTDSDCRDNAPRTIFIISMYKDSQPRGMAVTISVKCEKISTLSCENKIISFKEMNPPDNIKDTKSDIIFFQRSVPGHDNKMQFESSSYEGYFLACEKERDLFKLILKKEDELGDRSIMFTVQNED

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; interleukin-18 receptor binding [GO:0045515]; activation of protein kinase B activity [GO:0032148]; angiogenesis [GO:0001525]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; cellular response to organic cyclic compound [GO:0071407]; chemokine biosynthetic process [GO:0042033]; cholesterol homeostasis [GO:0042632]; cytokine-mediated signaling pathway [GO:0019221]; granulocyte macrophage colony-stimulating factor biosynthetic process [GO:0042253]; inflammatory response [GO:0006954]; interferon-gamma biosynthetic process [GO:0042095]; interleukin-13 biosynthetic process [GO:0042231]; interleukin-18-mediated signaling pathway [GO:0035655]; interleukin-2 biosynthetic process [GO:0042094]; interleukin-6 production [GO:0032635]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; MAPK cascade [GO:0000165]; natural killer cell activation [GO:0030101]; natural killer cell mediated cytotoxicity [GO:0042267]; negative regulation of myoblast differentiation [GO:0045662]; neutrophil activation [GO:0042119]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of granulocyte macrophage colony-stimulating factor production [GO:0032725]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-17 production [GO:0032740]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of natural killer cell proliferation [GO:0032819]; positive regulation of neuroinflammatory response [GO:0150078]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of NK T cell proliferation [GO:0051142]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of T-helper 1 cell cytokine production [GO:2000556]; positive regulation of T-helper 2 cell differentiation [GO:0045630]; positive regulation of tissue remodeling [GO:0034105]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of cell adhesion [GO:0030155]; sleep [GO:0030431]; T-helper 1 cell cytokine production [GO:0035744]; T-helper 1 type immune response [GO:0042088]; triglyceride homeostasis [GO:0070328]; type 2 immune response [GO:0042092]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14116-1; Sequence=Displayed; Name=2; Synonyms=Delta3pro-IL-18; IsoId=Q14116-2; Sequence=VSP_044934; Note=Expressed in ovarian carcinoma but undetectable in normal ovarian epithelial cells. Resistant to proteolytic activation by caspase-1 and -4.; 


uniprotID: Q9NPH3
geneSymbol: IL1RAP
reactome: R-HSA-1257604;R-HSA-388844;R-HSA-6811558;R-HSA-9014826;R-HSA-9014843;R-HSA-9020702;
pdb: 3O4O;4DEP;
length: 570
go: ENSG00000196083;
snps: rs34661910
name:
Interleukin-1 receptor accessory protein (IL-1 receptor accessory protein) (IL-1RAcP) (Interleukin-1 receptor 3) (IL-1R-3) (IL-1R3)

sequence:

opentargets:
extracellular region [GO:0005576]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; interleukin-1 receptor activity [GO:0004908]; interleukin-33 receptor activity [GO:0002114]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-1-mediated signaling pathway [GO:0070498]; interleukin-2 biosynthetic process [GO:0042094]; interleukin-33-mediated signaling pathway [GO:0038172]; interleukin-4 secretion [GO:0072602]; positive regulation of interleukin-13 production [GO:0032736]; positive regulation of interleukin-5 production [GO:0032754]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of synapse assembly [GO:0051965]; protein-containing complex assembly [GO:0065003]; regulation of postsynaptic density assembly [GO:0099151]; regulation of presynapse assembly [GO:1905606]; synaptic membrane adhesion [GO:0099560]; trans-synaptic signaling by trans-synaptic complex [GO:0099545]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Membrane-bound IL-1RAcP, mIL-1RAcP; IsoId=Q9NPH3-1; Sequence=Displayed; Name=2; Synonyms=Soluble IL-1RAcP, sIL-1RAcP; IsoId=Q9NPH3-2; Sequence=VSP_008050, VSP_008051; Name=3; Synonyms=Soluble IL-1RAcP-beta, sIL-1RAcP-beta; IsoId=Q9NPH3-3; Sequence=VSP_008052; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=AcPb, mIL-1RAcP687; IsoId=Q9NPH3-5; Sequence=VSP_041256; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Secreted.; SUBCELLULAR LOCATION: Isoform 3: Secreted.


uniprotID: Q8WWZ1
geneSymbol: IL1F10
reactome: R-HSA-9007892;R-HSA-9014826;
pdb: 5BOW;
length: 152
go: ENSG00000136697;
snps: rs6761276 rs6743376
location: SUBCELLULAR LOCATION: Secreted.
name:
Interleukin-1 family member 10 (IL-1F10) (Family of interleukin 1-theta) (FIL1 theta) (Interleukin-1 HY2) (IL-1HY2) (Interleukin-1 theta) (IL-1 theta) (Interleukin-38) (IL-38)

sequence:
MCSLPMARYYIIKYADQKALYTRDGQLLVGDPVADNCCAEKICILPNRGLARTKVPIFLGIQGGSRCLACVETEEGPSLQLEDVNIEELYKGGEEATRFTFFQSSSGSAFRLEAAAWPGWFLCGPAEPQQPVQLTKESEPSARTKFYFEQSW

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; interleukin-1 receptor binding [GO:0005149]; cellular response to cytokine stimulus [GO:0071345]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; inflammatory response [GO:0006954]; neutrophil chemotaxis [GO:0030593]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of JNK cascade [GO:0046330]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WWZ1-1; Sequence=Displayed; Name=2; IsoId=Q8WWZ1-2; Sequence=VSP_002658; Note=No experimental confirmation available.; 


uniprotID: P14778
geneSymbol: IL1R1
reactome: R-HSA-6783783;R-HSA-9020702;
pdb: 1G0Y;1IRA;1ITB;4DEP;4GAF;
length: 569
go: ENSG00000115594;
drug: DB00026;DB05303;DB05207;
snps: rs2228139 rs28362304
name:
Interleukin-1 receptor type 1 (IL-1R-1) (IL-1RT-1) (IL-1RT1) (CD121 antigen-like family member A) (Interleukin-1 receptor alpha) (IL-1R-alpha) (Interleukin-1 receptor type I) (p80) (CD antigen CD121a) [Cleaved into: Interleukin-1 receptor type 1, membrane form (mIL-1R1) (mIL-1RI); Interleukin-1 receptor type 1, soluble form (sIL-1R1) (sIL-1RI)]

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; interleukin-1 binding [GO:0019966]; interleukin-1 receptor activity [GO:0004908]; interleukin-1, type I, activating receptor activity [GO:0004909]; platelet-derived growth factor receptor binding [GO:0005161]; protease binding [GO:0002020]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; inflammatory response [GO:0006954]; interleukin-1-mediated signaling pathway [GO:0070498]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-1-mediated signaling pathway [GO:2000661]; positive regulation of neutrophil extravasation [GO:2000391]; positive regulation of T-helper 1 cell cytokine production [GO:2000556]; regulation of inflammatory response [GO:0050727]; response to interleukin-1 [GO:0070555]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:8142597}; Single-pass type I membrane protein {ECO:0000269|PubMed:8142597}. Cell membrane {ECO:0000305|PubMed:8142597}. Secreted {ECO:0000269|PubMed:8142597}.


uniprotID: P48507
geneSymbol: GCLM
reactome: R-HSA-174403;
length: 274
go: ENSG00000023909;
drug: DB00151;DB00142;
snps: rs17880087
name:
Glutamate--cysteine ligase regulatory subunit (GCS light chain) (Gamma-ECS regulatory subunit) (Gamma-glutamylcysteine synthetase regulatory subunit) (Glutamate--cysteine ligase modifier subunit)

sequence:

opentargets:
cytosol [GO:0005829]; glutamate-cysteine ligase complex [GO:0017109]; enzyme regulator activity [GO:0030234]; glutamate-cysteine ligase activity [GO:0004357]; glutamate-cysteine ligase catalytic subunit binding [GO:0035226]; protein heterodimerization activity [GO:0046982]; aging [GO:0007568]; apoptotic mitochondrial changes [GO:0008637]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to follicle-stimulating hormone stimulus [GO:0071372]; cellular response to glucose stimulus [GO:0071333]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular response to thyroxine stimulus [GO:0097069]; cysteine metabolic process [GO:0006534]; glutamate metabolic process [GO:0006536]; glutathione biosynthetic process [GO:0006750]; hepatic stellate cell activation [GO:0035733]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of neuron apoptotic process [GO:0043524]; positive regulation of glutamate-cysteine ligase activity [GO:0035229]; regulation of blood vessel size [GO:0050880]; regulation of mitochondrial depolarization [GO:0051900]; response to activity [GO:0014823]; response to drug [GO:0042493]; response to human chorionic gonadotropin [GO:0044752]; response to nitrosative stress [GO:0051409]; response to nutrient [GO:0007584]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48507-1; Sequence=Displayed; Name=2; IsoId=P48507-2; Sequence=VSP_057008; 


uniprotID: Q14687
geneSymbol: GSE1
name: Genetic suppressor element 1
length: 1217
go: ENSG00000131149;
snps: rs757859891 rs17853763 rs2303203
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14687-1; Sequence=Displayed; Name=2; IsoId=Q14687-2; Sequence=VSP_021820; Name=3; IsoId=Q14687-3; Sequence=VSP_021821; Note=No experimental confirmation available.; 


uniprotID: P48506
geneSymbol: GCLC
reactome: R-HSA-174403;R-HSA-5578999;
length: 637
go: ENSG00000001084;
drug: DB00151;DB00142;DB00163;
snps: rs2066512 rs760031222 rs121907946 rs17883718
name:
Glutamate--cysteine ligase catalytic subunit (EC 6.3.2.2) (GCS heavy chain) (Gamma-ECS) (Gamma-glutamylcysteine synthetase)

sequence:

opentargets:
cytosol [GO:0005829]; glutamate-cysteine ligase complex [GO:0017109]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; coenzyme binding [GO:0050662]; glutamate binding [GO:0016595]; glutamate-cysteine ligase activity [GO:0004357]; magnesium ion binding [GO:0000287]; protein heterodimerization activity [GO:0046982]; aging [GO:0007568]; apoptotic mitochondrial changes [GO:0008637]; cell redox homeostasis [GO:0045454]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to follicle-stimulating hormone stimulus [GO:0071372]; cellular response to glucose stimulus [GO:0071333]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; cellular response to insulin stimulus [GO:0032869]; cellular response to mechanical stimulus [GO:0071260]; cellular response to thyroxine stimulus [GO:0097069]; cysteine metabolic process [GO:0006534]; glutamate metabolic process [GO:0006536]; glutathione biosynthetic process [GO:0006750]; L-ascorbic acid metabolic process [GO:0019852]; negative regulation of apoptotic process [GO:0043066]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of hepatic stellate cell activation [GO:2000490]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; regulation of blood vessel size [GO:0050880]; regulation of mitochondrial depolarization [GO:0051900]; response to activity [GO:0014823]; response to arsenic-containing substance [GO:0046685]; response to cadmium ion [GO:0046686]; response to heat [GO:0009408]; response to hormone [GO:0009725]; response to human chorionic gonadotropin [GO:0044752]; response to interleukin-1 [GO:0070555]; response to nitrosative stress [GO:0051409]; response to nutrient [GO:0007584]; response to oxidative stress [GO:0006979]; response to xenobiotic stimulus [GO:0009410]


uniprotID: Q5VWK5
geneSymbol: IL23R
reactome: R-HSA-6785807;R-HSA-9020933;
pdb: 5MZV;
name: Interleukin-23 receptor (IL-23 receptor) (IL-23R)
length: 629
go: ENSG00000162594;
snps: rs1884444 rs11465797 rs7530511 rs11209026
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; interleukin-23 receptor complex [GO:0072536]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; cytokine-mediated signaling pathway [GO:0019221]; defense response to Gram-negative bacterium [GO:0050829]; inflammatory response [GO:0006954]; interleukin-23-mediated signaling pathway [GO:0038155]; negative regulation of interleukin-10 production [GO:0032693]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of activation of Janus kinase activity [GO:0010536]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of granulocyte macrophage colony-stimulating factor production [GO:0032725]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-17 production [GO:0032740]; positive regulation of memory T cell differentiation [GO:0043382]; positive regulation of natural killer cell proliferation [GO:0032819]; positive regulation of NK T cell activation [GO:0051135]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of T-helper 1 type immune response [GO:0002827]; positive regulation of T-helper 17 cell lineage commitment [GO:2000330]; positive regulation of T-helper 17 type immune response [GO:2000318]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of tyrosine phosphorylation of STAT protein [GO:0042509]; response to interferon-gamma [GO:0034341]; response to lipopolysaccharide [GO:0032496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=IL-23R1; IsoId=Q5VWK5-1; Sequence=Displayed; Name=2; Synonyms=IL-23R2-F2; IsoId=Q5VWK5-2; Sequence=VSP_021993; Note=Produced by translation in an alternate frame of the cDNA encoding isoform 4. No experimental confirmation available.; Name=3; Synonyms=IL-23R3-F1; IsoId=Q5VWK5-3; Sequence=VSP_021997, VSP_021998; Note=Produced by translation in an alternate frame of the cDNA encoding isoform 5. No experimental confirmation available.; Name=4; Synonyms=IL-23R2-F1; IsoId=Q5VWK5-4; Sequence=VSP_021994, VSP_021995; Note=Produced by translation in an alternate frame of the cDNA encoding isoform 2. No experimental confirmation available.; Name=5; Synonyms=IL-23R3-F3; IsoId=Q5VWK5-5; Sequence=VSP_021991, VSP_021999; Note=Produced by translation in an alternate frame of the cDNA encoding isoform 3. No experimental confirmation available.; Name=6; Synonyms=IL-23R6; IsoId=Q5VWK5-6; Sequence=VSP_021992, VSP_021996; Note=No experimental confirmation available.; Name=7; Synonyms=IL-23R5; IsoId=Q5VWK5-7; Sequence=VSP_021990; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12023369}; Single-pass type I membrane protein {ECO:0000269|PubMed:12023369}.


uniprotID: Q9H293
geneSymbol: IL25
reactome: R-HSA-448424;
name: Interleukin-25 (IL-25) (Interleukin-17E) (IL-17E)
length: 177
go: ENSG00000166090;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MRERPRLGEDSSLISLFLQVVAFLAMVMGTHTYSHWPSCCPSKGQDTSEELLRWSTVPVPPLEPARPNRHPESCRASEDGPLNSRAISPWRYELDRDLNRLPQDLYHARCLCPHCVSLQTGSHMDPRGNSELLYHNQTVFYRRPCHGEKGTHKGYCLERRLYRVSLACVCVRPRVMG

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; interleukin-17E receptor binding [GO:0030380]; eosinophil differentiation [GO:0030222]; inflammatory response to antigenic stimulus [GO:0002437]; interleukin-13 production [GO:0032616]; interleukin-17-mediated signaling pathway [GO:0097400]; interleukin-5 production [GO:0032634]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to fungus [GO:0009620]; response to nematode [GO:0009624]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H293-1; Sequence=Displayed; Name=2; IsoId=Q9H293-2; Sequence=VSP_010159; 


uniprotID: Q14213
geneSymbol: EBI3
reactome: R-HSA-8984722;R-HSA-9020956;
length: 229
go: ENSG00000105246;
snps: rs1803524 rs4740
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9342359}.
name:
Interleukin-27 subunit beta (IL-27 subunit beta) (IL-27B) (Epstein-Barr virus-induced gene 3 protein) (EBV-induced gene 3 protein)

sequence:

opentargets:
ciliary neurotrophic factor receptor complex [GO:0070110]; CNTFR-CLCF1 complex [GO:0097059]; endoplasmic reticulum lumen [GO:0005788]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine activity [GO:0005125]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; interleukin-27 receptor binding [GO:0045523]; ciliary neurotrophic factor-mediated signaling pathway [GO:0070120]; humoral immune response [GO:0006959]; interleukin-27-mediated signaling pathway [GO:0070106]; interleukin-35-mediated signaling pathway [GO:0070757]; positive regulation of alpha-beta T cell proliferation [GO:0046641]; positive regulation of interferon-gamma biosynthetic process [GO:0045078]; T cell proliferation [GO:0042098]; T-helper 1 type immune response [GO:0042088]


uniprotID: P01589
geneSymbol: IL2RA
reactome: R-HSA-5673001;R-HSA-8877330;R-HSA-9020558;R-HSA-912526;
pdb: 1ILM;1ILN;1Z92;2B5I;2ERJ;3IU3;3NFP;
length: 272
go: ENSG00000134460;
drug: DB00041;DB00074;DB00111;DB00004;
snps: rs796051888 rs796051887 rs12722712
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-2 receptor subunit alpha (IL-2 receptor subunit alpha) (IL-2-RA) (IL-2R subunit alpha) (IL2-RA) (TAC antigen) (p55) (CD antigen CD25)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; interleukin-2 binding [GO:0019976]; interleukin-2 receptor activity [GO:0004911]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; activation-induced cell death of T cells [GO:0006924]; apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; inflammatory response to antigenic stimulus [GO:0002437]; interleukin-2-mediated signaling pathway [GO:0038110]; MAPK cascade [GO:0000165]; negative regulation of defense response to virus [GO:0050687]; negative regulation of immune response [GO:0050777]; negative regulation of inflammatory response [GO:0050728]; negative regulation of T cell proliferation [GO:0042130]; Notch signaling pathway [GO:0007219]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of T cell differentiation [GO:0045582]; regulation of regulatory T cell differentiation [GO:0045589]; regulation of T cell homeostatic proliferation [GO:0046013]; regulation of T cell tolerance induction [GO:0002664]


uniprotID: P14784
geneSymbol: IL2RB
reactome: R-HSA-5673001;R-HSA-8983432;R-HSA-9020558;R-HSA-912526;
pdb: 1ILM;1ILN;2B5I;2ERJ;3QAZ;4GS7;5M5E;
length: 551
go: ENSG00000100385;
drug: DB00041;DB00074;DB00111;DB00004;
snps: rs57770674 rs2228143 rs228942
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-2 receptor subunit beta (IL-2 receptor subunit beta) (IL-2R subunit beta) (IL-2RB) (High affinity IL-2 receptor subunit beta) (Interleukin-15 receptor subunit beta) (p70-75) (p75) (CD antigen CD122)

sequence:

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; interleukin-2 binding [GO:0019976]; interleukin-2 receptor activity [GO:0004911]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cytokine-mediated signaling pathway [GO:0019221]; interleukin-15-mediated signaling pathway [GO:0035723]; interleukin-2-mediated signaling pathway [GO:0038110]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; protein-containing complex assembly [GO:0065003]; signal transduction [GO:0007165]; viral process [GO:0016032]


uniprotID: Q92896
geneSymbol: GLG1
reactome: R-HSA-202733;
length: 1179
go: ENSG00000090863;
name:
Golgi apparatus protein 1 (CFR-1) (Cysteine-rich fibroblast growth factor receptor) (E-selectin ligand 1) (ESL-1) (Golgi sialoglycoprotein MG-160)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; fibroblast growth factor binding [GO:0017134]; signaling receptor binding [GO:0005102]; bone morphogenesis [GO:0060349]; leukocyte migration [GO:0050900]; negative regulation of protein processing [GO:0010955]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; regulation of chondrocyte differentiation [GO:0032330]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92896-1; Sequence=Displayed; Name=2; IsoId=Q92896-2; Sequence=VSP_035998; Name=3; IsoId=Q92896-3; Sequence=VSP_043472, VSP_035998; Note=No experimental confirmation available. {ECO:0000244|PubMed:20068231}; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:2355176}; Single-pass type I membrane protein {ECO:0000269|PubMed:2355176}.


uniprotID: P13232
geneSymbol: IL7
reactome: R-HSA-1266695;
pdb: 1IL7;3DI2;3DI3;
name: Interleukin-7 (IL-7)
length: 177
go: ENSG00000104432;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MFHVSFRYIFGLPPLILVLLPVASSDCDIEGKDGKQYESVLMVSIDQLLDSMKEIGSNCLNNEFNFFKRHICDANKEGMFLFRAARKLRQFLKMNSTGDFDLHLLKVSEGTTILLNCTGQVKGRKPAALGEAQPTKSLEENKSLKEQKKLNDLCFLKRLLQEIKTCWNKILMGTKEH

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; interleukin-7 receptor binding [GO:0005139]; animal organ morphogenesis [GO:0009887]; bone resorption [GO:0045453]; cell-cell signaling [GO:0007267]; cytokine-mediated signaling pathway [GO:0019221]; homeostasis of number of cells within a tissue [GO:0048873]; humoral immune response [GO:0006959]; interleukin-7-mediated signaling pathway [GO:0038111]; negative regulation of apoptotic process [GO:0043066]; negative regulation of catalytic activity [GO:0043086]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chemokine production [GO:0032722]; positive regulation of cytokine-mediated signaling pathway [GO:0001961]; positive regulation of organ growth [GO:0046622]; positive regulation of T cell differentiation [GO:0045582]; regulation of gene expression [GO:0010468]; T cell lineage commitment [GO:0002360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P13232-1; Sequence=Displayed; Name=2; IsoId=P13232-2; Sequence=VSP_042926; Note=No experimental confirmation available.; Name=3; IsoId=P13232-3; Sequence=VSP_047579, VSP_047580; 


uniprotID: Q9H4S2
geneSymbol: GSX1
name: GS homeobox 1 (Homeobox protein GSH-1)
length: 264
go: ENSG00000169840;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; adenohypophysis development [GO:0021984]; hypothalamus development [GO:0021854]; neuron fate commitment [GO:0048663]; positive regulation of transcription by RNA polymerase II [GO:0045944]; spinal cord association neuron differentiation [GO:0021527]


uniprotID: P25092
geneSymbol: GUCY2C
reactome: R-HSA-8935690;R-HSA-8942233;
length: 1073
go: ENSG00000070019;
drug: DB08890;
name:
Heat-stable enterotoxin receptor (STA receptor) (hSTAR) (EC 4.6.1.2) (Guanylyl cyclase C) (GC-C) (Intestinal guanylate cyclase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; guanylate cyclase activity [GO:0004383]; peptide receptor activity [GO:0001653]; protein kinase activity [GO:0004672]; toxic substance binding [GO:0015643]; cGMP biosynthetic process [GO:0006182]; digestion [GO:0007586]; intracellular signal transduction [GO:0035556]; receptor guanylyl cyclase signaling pathway [GO:0007168]; regulation of cell proliferation [GO:0042127]; response to toxic substance [GO:0009636]; signal transduction [GO:0007165]

snps:
rs56142849 rs56275235 rs1420635 rs587776905 rs55684775 rs55897626 rs587776871 rs34890806 rs35617837 rs35179392 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23269669}; Single-pass type I membrane protein {ECO:0000269|PubMed:23269669}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:23269669}; Single-pass type I membrane protein {ECO:0000269|PubMed:23269669}. Note=The 145 kDa plasma membrane form of GC-C contains sialic acid and galactose residues, while a differencially glycosylated 130 Kda form is a high mannose form that is resident in the endoplasmic reticulum and may serve as the precursor for the cell surface form.


uniprotID: Q96NT3
geneSymbol: GUCD1
name: Protein GUCD1 (Guanylyl cyclase domain-containing protein 1) (Protein LLN4)
length: 240
go: ENSG00000138867;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96NT3-1; Sequence=Displayed; Name=2; IsoId=Q96NT3-2; Sequence=VSP_044730; Name=3; IsoId=Q96NT3-3; Sequence=VSP_055753, VSP_044730; 


uniprotID: A0PJZ3
geneSymbol: GXYLT2
name: Glucoside xylosyltransferase 2 (EC 2.4.2.42) (Glycosyltransferase 8 domain-containing protein 4)
length: 443
go: ENSG00000172986;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; UDP-xylosyltransferase activity [GO:0035252]; O-glycan processing [GO:0016266]


uniprotID: P54840
geneSymbol: GYS2
reactome: R-HSA-3322077;R-HSA-3785653;R-HSA-3858516;R-HSA-3878781;
name: Glycogen [starch] synthase, liver (EC 2.4.1.11)
length: 703
go: ENSG00000111713;
sequence:

opentargets:
cell cortex [GO:0005938]; cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; ectoplasm [GO:0043265]; glucose binding [GO:0005536]; glycogen (starch) synthase activity [GO:0004373]; glycogen synthase activity, transferring glucose-1-phosphate [GO:0061547]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; generation of precursor metabolites and energy [GO:0006091]; glycogen biosynthetic process [GO:0005978]; response to glucose [GO:0009749]; response to sucrose [GO:0009744]

snps:
rs121918423 rs16924038 rs121918421 rs2306180 rs16924002 rs121918425 rs121918420 rs121918424 rs121918422 


uniprotID: Q9H116
geneSymbol: GZF1
length: 711
go: ENSG00000125812;
snps: rs3810574 rs6048760 rs6048760 rs6048760 rs6114068 rs6048766
name:
GDNF-inducible zinc finger protein 1 (Zinc finger and BTB domain-containing protein 23) (Zinc finger protein 336)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001206]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; branching involved in ureteric bud morphogenesis [GO:0001658]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H116-1; Sequence=Displayed; Name=2; IsoId=Q9H116-4; Sequence=VSP_055933; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14522971}. Nucleus, nucleoplasm {ECO:0000269|PubMed:14522971, ECO:0000269|PubMed:17674968}. Nucleus, nucleolus {ECO:0000269|PubMed:17674968}. Note=Nuclear localization depends upon NCL. {ECO:0000269|PubMed:17674968}.


uniprotID: P07305
geneSymbol: H1F0
reactome: R-HSA-211227;R-HSA-2559584;
name: Histone H1.0 (Histone H1') (Histone H1(0)) [Cleaved into: Histone H1.0, N-terminally processed]
length: 194
go: ENSG00000189060;
sequence:
MTENSTSAPAAKPKRAKASKKSTDHPKYSDMIVAAIQAEKNRAGSSRQSIQKYIKSHYKVGENADSQIKLSIKRLVTTGVLKQTKGVGASGSFRLAKSDEPKKSVAFKKTKKEIKKVATPKKASKPKKAASKAPTKKPKATPVKKAKKKLAATPKKAKKPKTVKAKPVKASKPKKAKPVKPKAKSSAKRAGKKK

opentargets:
actin cytoskeleton [GO:0015629]; Golgi apparatus [GO:0005794]; nuclear body [GO:0016604]; nuclear chromatin [GO:0000790]; nuclear euchromatin [GO:0005719]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; AT DNA binding [GO:0003680]; chromatin DNA binding [GO:0031490]; double-stranded DNA binding [GO:0003690]; nucleosomal DNA binding [GO:0031492]; RNA binding [GO:0003723]; apoptotic DNA fragmentation [GO:0006309]; chromatin silencing [GO:0006342]; chromosome condensation [GO:0030261]; negative regulation of chromatin silencing [GO:0031936]; negative regulation of DNA recombination [GO:0045910]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nucleosome assembly [GO:0006334]; nucleosome positioning [GO:0016584]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P07305-1; Sequence=Displayed; Name=2; IsoId=P07305-2; Sequence=VSP_042163; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00837, ECO:0000269|PubMed:18993075}. Chromosome {ECO:0000255|PROSITE-ProRule:PRU00837, ECO:0000269|PubMed:18993075}. Note=The RNA edited version has been localized to nuclear speckles. During mitosis, it appears in the vicinity of condensed chromosomes.


uniprotID: P06241
geneSymbol: FYN
length: 537
go: ENSG00000010810;
drug: DB02078;DB01254;
snps: rs1801121 rs28763975
reactome:
R-HSA-114604;R-HSA-1227986;R-HSA-1257604;R-HSA-1433557;R-HSA-1433559;R-HSA-164944;R-HSA-202733;R-HSA-2029481;R-HSA-210990;R-HSA-2219530;R-HSA-2424491;R-HSA-2682334;R-HSA-2730905;R-HSA-373753;R-HSA-375165;R-HSA-389356;R-HSA-389357;R-HSA-389359;R-HSA-389513;R-HSA-3928662;R-HSA-3928663;R-HSA-3928664;R-HSA-3928665;R-HSA-399954;R-HSA-399955;R-HSA-399956;R-HSA-418885;R-HSA-4420097;R-HSA-5621480;R-HSA-5621575;R-HSA-5673001;R-HSA-6811558;R-HSA-75892;R-HSA-8866376;R-HSA-9032500;R-HSA-9032759;R-HSA-912631;R-HSA-983695;

pdb:
1A0N;1AOT;1AOU;1AVZ;1AZG;1EFN;1FYN;1G83;1M27;1NYF;1NYG;1SHF;1ZBJ;2DQ7;2MQI;2MRJ;2MRK;3H0F;3H0H;3H0I;3UA6;3UA7;4D8D;4EIK;4U17;4U1P;4ZNX;

name:
Tyrosine-protein kinase Fyn (EC 2.7.10.2) (Proto-oncogene Syn) (Proto-oncogene c-Fyn) (Src-like kinase) (SLK) (p59-Fyn)

sequence:

opentargets:
actin filament [GO:0005884]; cell body [GO:0044297]; cytosol [GO:0005829]; dendrite [GO:0030425]; endosome [GO:0005768]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; glial cell projection [GO:0097386]; glutamatergic synapse [GO:0098978]; membrane raft [GO:0045121]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear endoplasmic reticulum [GO:0097038]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic density, intracellular component [GO:0099092]; Schaffer collateral - CA1 synapse [GO:0098685]; alpha-tubulin binding [GO:0043014]; ATP binding [GO:0005524]; CD4 receptor binding [GO:0042609]; CD8 receptor binding [GO:0042610]; disordered domain specific binding [GO:0097718]; enzyme binding [GO:0019899]; ephrin receptor binding [GO:0046875]; growth factor receptor binding [GO:0070851]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; metal ion binding [GO:0046872]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; peptide hormone receptor binding [GO:0051428]; phosphatidylinositol 3-kinase binding [GO:0043548]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor binding [GO:0005102]; T cell receptor binding [GO:0042608]; tau protein binding [GO:0048156]; type 5 metabotropic glutamate receptor binding [GO:0031802]; activated T cell proliferation [GO:0050798]; adaptive immune response [GO:0002250]; axon guidance [GO:0007411]; blood coagulation [GO:0007596]; calcium ion transport [GO:0006816]; cell differentiation [GO:0030154]; cellular response to glycine [GO:1905430]; cellular response to L-glutamate [GO:1905232]; cellular response to peptide hormone stimulus [GO:0071375]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cytokine-mediated signaling pathway [GO:0019221]; dendrite morphogenesis [GO:0048813]; dendritic spine maintenance [GO:0097062]; detection of mechanical stimulus involved in sensory perception of pain [GO:0050966]; ephrin receptor signaling pathway [GO:0048013]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; feeding behavior [GO:0007631]; forebrain development [GO:0030900]; heart process [GO:0003015]; intracellular signal transduction [GO:0035556]; learning [GO:0007612]; leukocyte migration [GO:0050900]; MAPK cascade [GO:0000165]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of dendritic spine maintenance [GO:1902951]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of gene expression [GO:0010629]; negative regulation of hydrogen peroxide biosynthetic process [GO:0010730]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of oxidative stress-induced cell death [GO:1903202]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of protein ubiquitination [GO:0031397]; neuron migration [GO:0001764]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; platelet activation [GO:0030168]; positive regulation of cysteine-type endopeptidase activity [GO:2001056]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of neuron death [GO:1901216]; positive regulation of neuron projection development [GO:0010976]; positive regulation of non-membrane spanning protein tyrosine kinase activity [GO:1903997]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein localization to membrane [GO:1905477]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; protein phosphorylation [GO:0006468]; regulation of calcium ion import across plasma membrane [GO:1905664]; regulation of cell shape [GO:0008360]; regulation of defense response to virus by virus [GO:0050690]; regulation of glutamate receptor signaling pathway [GO:1900449]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; response to amyloid-beta [GO:1904645]; response to ethanol [GO:0045471]; response to hydrogen peroxide [GO:0042542]; response to singlet oxygen [GO:0000304]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=B; IsoId=P06241-1; Sequence=Displayed; Name=2; Synonyms=T; IsoId=P06241-2; Sequence=VSP_024110; Name=3; IsoId=P06241-3; Sequence=VSP_024108; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell membrane. Note=Present and active in lipid rafts. Palmitoylation is crucial for proper trafficking.


uniprotID: P63130
geneSymbol: ERVK-7
length: 666
name:
Endogenous retrovirus group K member 7 Gag polyprotein (HERV-K(III) Gag protein) (HERV-K102 Gag protein) (HERV-K_1q22 provirus ancestral Gag polyprotein) (Gag polyprotein)

sequence:


uniprotID: P21217
geneSymbol: FUT3
reactome: R-HSA-975578;
length: 361
name:
Galactoside 3(4)-L-fucosyltransferase (EC 2.4.1.65) (Blood group Lewis alpha-4-fucosyltransferase) (Lewis FT) (Fucosyltransferase 3) (Fucosyltransferase III) (FucT-III)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity [GO:0017060]; alpha-(1->3)-fucosyltransferase activity [GO:0046920]; fucosyltransferase activity [GO:0008417]; cell-cell recognition [GO:0009988]; ceramide metabolic process [GO:0006672]; fucosylation [GO:0036065]; macromolecule glycosylation [GO:0043413]; oligosaccharide biosynthetic process [GO:0009312]; protein glycosylation [GO:0006486]

snps:
rs28362458 rs28362459 rs812936 rs59796499 rs778986 rs28362462 rs28362463 rs3745635 rs28362466 rs28381968 rs28381969 rs28381970 rs3894326 


uniprotID: P22083
geneSymbol: FUT4
length: 530
go: ENSG00000196371;
snps: rs2230273
name:
Alpha-(1,3)-fucosyltransferase 4 (EC 2.4.1.-) (ELAM-1 ligand fucosyltransferase) (Fucosyltransferase 4) (Fucosyltransferase IV) (Fuc-TIV) (FucT-IV) (Galactoside 3-L-fucosyltransferase)

sequence:

opentargets:
cell periphery [GO:0071944]; cell surface [GO:0009986]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; alpha-(1->3)-fucosyltransferase activity [GO:0046920]; fucosyltransferase activity [GO:0008417]; carbohydrate metabolic process [GO:0005975]; fucosylation [GO:0036065]; L-fucose catabolic process [GO:0042355]; protein glycosylation [GO:0006486]


uniprotID: Q6MZW2
geneSymbol: FSTL4
name: Follistatin-related protein 4 (Follistatin-like protein 4)
length: 842
go: ENSG00000053108;
snps: rs17683306 rs3749817
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; secretory granule [GO:0030141]; brain-derived neurotrophic factor binding [GO:0048403]; calcium ion binding [GO:0005509]; negative regulation of brain-derived neurotrophic factor receptor signaling pathway [GO:0031549]; negative regulation of collateral sprouting [GO:0048671]; negative regulation of dendritic spine development [GO:0061000]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6MZW2-1; Sequence=Displayed; Name=2; IsoId=Q6MZW2-2; Sequence=VSP_020800; Name=3; IsoId=Q6MZW2-3; Sequence=VSP_020801, VSP_020802; Note=No experimental confirmation available.; 


uniprotID: Q8IWF2
geneSymbol: FOXRED2
length: 684
go: ENSG00000100350;
snps: rs56767103 rs760718 rs2277841 rs35813894 rs35748020
name:
FAD-dependent oxidoreductase domain-containing protein 2 (Endoplasmic reticulum flavoprotein associated with degradation)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; flavin adenine dinucleotide binding [GO:0050660]; oxidoreductase activity [GO:0016491]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IWF2-1; Sequence=Displayed; Name=2; IsoId=Q8IWF2-2; Sequence=VSP_033997; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:19706418}.


uniprotID: Q8WXT5
geneSymbol: FOXD4L4
length: 416
go: ENSG00000184659;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
name:
Forkhead box protein D4-like 4 (FOXD4-like 4) (Forkhead box protein D4-like 2) (Forkhead box protein D4B) (Myeloid factor-gamma)

sequence:


uniprotID: Q13070
geneSymbol: GAGE6
name: G antigen 6 (GAGE-6) (Cancer/testis antigen 4.6) (CT4.6)
length: 117
sequence:
MSWRGRSTYYWPRPRRYVQPPEVIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEADSQEQGHPQTGCECEDGPDGQEVDPPNPEEVKTPEEGEKQSQC


uniprotID: Q7Z7M9
geneSymbol: GALNT5
reactome: R-HSA-913709;
length: 940
go: ENSG00000136542;
snps: rs3739112 rs6759356
name:
Polypeptide N-acetylgalactosaminyltransferase 5 (EC 2.4.1.41) (Polypeptide GalNAc transferase 5) (GalNAc-T5) (pp-GaNTase 5) (Protein-UDP acetylgalactosaminyltransferase 5) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; polypeptide N-acetylgalactosaminyltransferase activity [GO:0004653]; glycosaminoglycan biosynthetic process [GO:0006024]; O-glycan processing [GO:0016266]


uniprotID: Q14697
geneSymbol: GANAB
reactome: R-HSA-532668;R-HSA-901042;
name: Neutral alpha-glucosidase AB (EC 3.2.1.84) (Alpha-glucosidase 2) (Glucosidase II subunit alpha)
length: 944
go: ENSG00000089597;
drug: DB00491;
snps: rs2276296 rs2276295 rs1063445 rs879255642 rs770519542 rs879255643
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; glucosidase II complex [GO:0017177]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; melanosome [GO:0042470]; membrane [GO:0016020]; carbohydrate binding [GO:0030246]; glucan 1,3-alpha-glucosidase activity [GO:0033919]; RNA binding [GO:0003723]; carbohydrate metabolic process [GO:0005975]; N-glycan processing [GO:0006491]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14697-1; Sequence=Displayed; Name=2; IsoId=Q14697-2; Sequence=VSP_010674; Name=3; IsoId=Q14697-3; Sequence=VSP_039976, VSP_039977; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000305|PubMed:10929008}. Golgi apparatus {ECO:0000250|UniProtKB:P79403}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:17081065}.


uniprotID: Q06547
geneSymbol: GABPB1
reactome: R-HSA-2151201;
length: 395
go: ENSG00000104064;
location: SUBCELLULAR LOCATION: Nucleus.
name:
GA-binding protein subunit beta-1 (GABP subunit beta-1) (GABPB-1) (GABP subunit beta-2) (GABPB-2) (Nuclear respiratory factor 2) (Transcription factor E4TF1-47) (Transcription factor E4TF1-53)

sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; protein heterodimerization activity [GO:0046982]; transcription regulatory region DNA binding [GO:0044212]; mitochondrion organization [GO:0007005]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=GABPB-1, Beta-1; IsoId=Q06547-1; Sequence=Displayed; Name=2; Synonyms=Beta-2; IsoId=Q06547-2; Sequence=VSP_000275; Name=3; Synonyms=GABPB-2, Gamma-1; IsoId=Q06547-3; Sequence=VSP_009337; Name=4; Synonyms=Gamma-2; IsoId=Q06547-4; Sequence=VSP_000275, VSP_009337; 


uniprotID: Q14802
geneSymbol: FXYD3
reactome: R-HSA-5578775;R-HSA-936837;
sequence: MQKVTLGLLVFLAGFPVLDANDLEDKNSPFYYDWHSLQVGGLICAGVLCAMGIIIVMSAKCKCKFGQKSGHHPGETPPLITPGSAQS
length: 87
go: ENSG00000089356;
snps: rs35578165
name:
FXYD domain-containing ion transport regulator 3 (Chloride conductance inducer protein Mat-8) (Mammary tumor 8 kDa protein) (Phospholemman-like) (Sodium/potassium-transporting ATPase subunit FXYD3)

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; chloride channel activity [GO:0005254]; sodium channel regulator activity [GO:0017080]; chloride transport [GO:0006821]; potassium ion transport [GO:0006813]; regulation of sodium ion transmembrane transporter activity [GO:2000649]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=FXYD3-sf {ECO:0000303|PubMed:17077088}; IsoId=Q14802-1; Sequence=Displayed; Name=2; Synonyms=FXYD3-lf {ECO:0000303|PubMed:17077088}; IsoId=Q14802-2; Sequence=VSP_034598; Name=3; IsoId=Q14802-3; Sequence=VSP_045716; Note=No experimental confirmation available.; Name=4; IsoId=Q14802-4; Sequence=VSP_034598, VSP_047287; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=5; IsoId=Q14802-5; Sequence=VSP_047286; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: O75293
geneSymbol: GADD45B
length: 160
go: ENSG00000099860;
name:
Growth arrest and DNA damage-inducible protein GADD45 beta (Myeloid differentiation primary response protein MyD118) (Negative growth regulatory protein MyD118)

sequence:
MTLEELVACDNAAQKMQTVTAAVEELLVAAQRQDRLTVGVYESAKLMNVDPDSVVLCLLAIDEEEEDDIALQIHFTLIQSFCCDNDINIVRVSGMQRLAQLLGEPAETQGTTEARDLHCLLVTNPHTDAWKSHGLVEVASYCEESRGNNQWVPYISLQER

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; activation of MAPKK activity [GO:0000186]; activation of MAPKKK activity [GO:0000185]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; negative regulation of protein kinase activity [GO:0006469]; positive regulation of apoptotic process [GO:0043065]; positive regulation of JNK cascade [GO:0046330]; positive regulation of p38MAPK cascade [GO:1900745]; regulation of cell cycle [GO:0051726]


uniprotID: Q6P4F1
geneSymbol: FUT10
length: 479
go: ENSG00000172728;
snps: rs16880994 rs16880853 rs17855838 rs17855839
name:
Alpha-(1,3)-fucosyltransferase 10 (EC 2.4.1.-) (Fucosyltransferase X) (Fuc-TX) (FucT-X) (Galactoside 3-L-fucosyltransferase 10) (Fucosyltransferase 10)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; alpha-(1->3)-fucosyltransferase activity [GO:0046920]; cerebral cortex radially oriented cell migration [GO:0021799]; fertilization [GO:0009566]; fucosylation [GO:0036065]; hemopoiesis [GO:0030097]; L-fucose catabolic process [GO:0042355]; nervous system development [GO:0007399]; neuronal stem cell population maintenance [GO:0097150]; protein folding [GO:0006457]; protein glycosylation [GO:0006486]; protein targeting [GO:0006605]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q6P4F1-1; Sequence=Displayed; Name=2; IsoId=Q6P4F1-2; Sequence=VSP_027501; Note=No experimental confirmation available.; Name=3; IsoId=Q6P4F1-3; Sequence=VSP_027498, VSP_027502, VSP_027505, VSP_027506; Name=4; IsoId=Q6P4F1-4; Sequence=VSP_027500, VSP_027505, VSP_027506; Name=5; IsoId=Q6P4F1-5; Sequence=VSP_027505, VSP_027506; Name=6; IsoId=Q6P4F1-6; Sequence=VSP_027500; Name=7; IsoId=Q6P4F1-7; Sequence=VSP_027499, VSP_027503, VSP_027504; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:12370785}; Single-pass type II membrane protein {ECO:0000269|PubMed:12370785}.


uniprotID: P51114
geneSymbol: FXR1
reactome: R-HSA-6802952;
pdb: 2CPQ;3KUF;3O8V;
name: Fragile X mental retardation syndrome-related protein 1 (hFXR1p)
length: 621
go: ENSG00000114416;
snps: rs1051080 rs11499
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7781595}.
sequence:

opentargets:
axon [GO:0030424]; costamere [GO:0043034]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; polysome [GO:0005844]; postsynaptic density [GO:0014069]; ribonucleoprotein granule [GO:0035770]; mRNA 3'-UTR binding [GO:0003730]; mRNA binding [GO:0003729]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; RNA strand annealing activity [GO:0033592]; translation regulator activity [GO:0045182]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; muscle organ development [GO:0007517]; negative regulation of translation [GO:0017148]; positive regulation of gene silencing by miRNA [GO:2000637]; positive regulation of translation [GO:0045727]; regulation of mRNA stability [GO:0043488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Alternative splicing appears to be tissue-specific.; Name=1; Synonyms=Long; IsoId=P51114-1; Sequence=Displayed; Name=2; Synonyms=b, Short; IsoId=P51114-2; Sequence=VSP_019710, VSP_019711; Name=3; IsoId=P51114-3; Sequence=VSP_019709; Note=No experimental confirmation available.; 


uniprotID: O43826
geneSymbol: SLC37A4
reactome: R-HSA-3229133;R-HSA-70263;
length: 429
name:
Glucose-6-phosphate exchanger SLC37A4 (Glucose-5-phosphate transporter) (Glucose-6-phosphate translocase) (Solute carrier family 37 member 4) (Transformation-related gene 19 protein) (TRG-19)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; glucose 6-phosphate:inorganic phosphate antiporter activity [GO:0061513]; glucose-6-phosphate transmembrane transporter activity [GO:0015152]; transporter activity [GO:0005215]; carbohydrate transport [GO:0008643]; gluconeogenesis [GO:0006094]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; glucose-6-phosphate transport [GO:0015760]; phosphate ion transmembrane transport [GO:0035435]

snps:
rs193302881 rs193302887 rs193302889 rs193302882 rs121908978 rs193302877 rs193302894 rs193302898 rs193302884 rs193302885 rs193302899 rs193302886 rs80356489 rs193302896 rs193302879 rs193302892 rs193302883 rs193302890 rs193302895 rs193302893 rs193302888 rs34203644 rs193302902 rs193302878 rs193302900 rs193302880 rs193302903 rs193302891 rs80356490 rs121908980 rs80356492 rs193302901 rs193302897 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43826-1; Sequence=Displayed; Name=2; IsoId=O43826-2; Sequence=VSP_006171; 


uniprotID: P62685
geneSymbol: ERVK-8
length: 647
name:
Endogenous retrovirus group K member 8 Gag polyprotein (HERV-K115 Gag protein) (HERV-K_8p23.1 provirus ancestral Gag polyprotein) (Gag polyprotein)

sequence:


uniprotID: P63126
geneSymbol: ERVK-9
length: 666
name:
Endogenous retrovirus group K member 9 Gag polyprotein (HERV-K(C6) Gag protein) (HERV-K109 Gag protein) (HERV-K_6q14.1 provirus ancestral Gag polyprotein) (Gag polyprotein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=2;  Comment=This protein is synthesized as a Gag polypeptide and as a Gag-Pro-Pol polyprotein. The later is the precursor of the Pro and Pol proteins. It is thought, by similarity with type-B retroviruses, to be generated by -1 frameshifts occurring at the Gag-Pro and Pro-Pol genes boundaries.; Name=2; IsoId=P63126-1; Sequence=Displayed; Note=Gag-Pro polyprotein is produced from conventional translation of the gag ORF.; Name=1; IsoId=P63128-1; Sequence=External; 


uniprotID: Q8NB37
geneSymbol: GATD1
length: 220
go: ENSG00000177225;
opentargets: extracellular exosome [GO:0070062]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Glutamine amidotransferase-like class 1 domain-containing protein 1 (Parkinson disease 7 domain-containing protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NB37-1; Sequence=Displayed; Name=2; IsoId=Q8NB37-2; Sequence=VSP_028233; Note=No experimental confirmation available.; Name=3; IsoId=Q8NB37-3; Sequence=VSP_028231; Name=4; IsoId=Q8NB37-4; Sequence=VSP_028231, VSP_028232; Note=No experimental confirmation available.; 


uniprotID: O60883
geneSymbol: GPR37L1
reactome: R-HSA-375276;R-HSA-418594;
name: G-protein coupled receptor 37-like 1 (Endothelin B receptor-like protein 2) (ETBR-LP-2)
length: 481
go: ENSG00000170075;
snps: rs3795594 rs3795595 rs17854616 rs372386575
sequence:

opentargets:
ciliary membrane [GO:0060170]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; G protein-coupled peptide receptor activity [GO:0008528]; G protein-coupled receptor activity [GO:0004930]; peptide binding [GO:0042277]; prosaposin receptor activity [GO:0036505]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of astrocyte differentiation [GO:0048712]; negative regulation of hydrogen peroxide-induced cell death [GO:1903206]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of smoothened signaling pathway [GO:0045879]; negative regulation of systemic arterial blood pressure [GO:0003085]; positive regulation of cerebellar granule cell precursor proliferation [GO:0021940]; positive regulation of MAPK cascade [GO:0043410]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28688853}; Multi-pass membrane protein {ECO:0000255}. Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q99JG2}; Multi-pass membrane protein {ECO:0000255}. Note=Associates with the basal membrane of Bergmann glia cell primary cilia. {ECO:0000250|UniProtKB:Q99JG2}.


uniprotID: O95257
geneSymbol: GADD45G
pdb: 2WAL;3FFM;
length: 159
go: ENSG00000130222;
snps: rs3138505
name:
Growth arrest and DNA damage-inducible protein GADD45 gamma (Cytokine-responsive protein CR6) (DNA damage-inducible transcript 2 protein) (DDIT-2)

sequence:
MTLEEVRGQDTVPESTARMQGAGKALHELLLSAQRQGCLTAGVYESAKVLNVDPDNVTFCVLAAGEEDEGDIALQIHFTLIQAFCCENDIDIVRVGDVQRLAAIVGAGEEAGAPGDLHCILISNPNEDAWKDPALEKLSLFCEESRSVNDWVPSITLPE

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; activation of MAPKKK activity [GO:0000185]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of JNK cascade [GO:0046330]; positive regulation of p38MAPK cascade [GO:1900745]; regulation of cell cycle [GO:0051726]


uniprotID: P35637
geneSymbol: FUS
reactome: R-HSA-72163;
pdb: 2LA6;2LCW;4FDD;4FQ3;5W3N;5XRR;5XSG;5YVG;5YVH;5YVI;6BWZ;6BXV;6BZP;
length: 526
go: ENSG00000089280;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19251627, ECO:0000269|PubMed:19251628}.
name:
RNA-binding protein FUS (75 kDa DNA-pairing protein) (Oncogene FUS) (Oncogene TLS) (POMp75) (Translocated in liposarcoma protein)

sequence:

opentargets:
dendritic spine head [GO:0044327]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; polysome [GO:0005844]; DNA binding [GO:0003677]; estrogen receptor binding [GO:0030331]; identical protein binding [GO:0042802]; ionotropic glutamate receptor binding [GO:0035255]; metal ion binding [GO:0046872]; myosin V binding [GO:0031489]; retinoid X receptor binding [GO:0046965]; RNA binding [GO:0003723]; thyroid hormone receptor binding [GO:0046966]; transcription coactivator activity [GO:0003713]; cellular response to calcium ion [GO:0071277]; mRNA splicing, via spliceosome [GO:0000398]; regulation of transcription, DNA-templated [GO:0006355]

snps:
rs148758737 rs267606832 rs748374535 rs777819849 rs752076094 rs186547381 rs267606831 rs121909667 rs121909669 rs121909668 rs121909668 rs121909671 rs886041389 rs886041390 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P35637-1; Sequence=Displayed; Name=Short; IsoId=P35637-2; Sequence=VSP_005798; 


uniprotID: A2VDF0
geneSymbol: FUOM
reactome: R-HSA-6787639;
name: Fucose mutarotase (EC 5.1.3.29)
length: 154
go: ENSG00000148803;
sequence:
MVALKGVPALLSPELLYALARMGHGDEIVLADLNFPASSICQCGPMEIRADGLGIPQLLEAVLKLLPLDTYVESPAAVMELVPSDKERGLQTPVWTEYESILRRAGCVRALAKIERFEFYERAKKAFAVVATGETALYGNLILRKGVLALNPLL

opentargets:
cytosol [GO:0005829]; fucose binding [GO:0042806]; racemase and epimerase activity, acting on carbohydrates and derivatives [GO:0016857]; female mating behavior [GO:0060180]; fucose metabolic process [GO:0006004]; fucosylation [GO:0036065]; negative regulation of neuron differentiation [GO:0045665]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A2VDF0-1; Sequence=Displayed; Name=2; IsoId=A2VDF0-2; Sequence=VSP_025080, VSP_025081; 


uniprotID: Q9Y231
geneSymbol: FUT9
length: 359
go: ENSG00000172461;
snps: rs3811069 rs9986564
name:
Alpha-(1,3)-fucosyltransferase 9 (EC 2.4.1.-) (Fucosyltransferase 9) (Fucosyltransferase IX) (Fuc-TIX) (FucT-IX) (Galactoside 3-L-fucosyltransferase)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; alpha-(1->3)-fucosyltransferase activity [GO:0046920]; fucosyltransferase activity [GO:0008417]; carbohydrate metabolic process [GO:0005975]; fucosylation [GO:0036065]; L-fucose catabolic process [GO:0042355]; nervous system development [GO:0007399]; protein glycosylation [GO:0006486]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Note=Membrane-bound form in trans cisternae of Golgi. {ECO:0000250}.


uniprotID: Q96N19
geneSymbol: GPR137
name: Integral membrane protein GPR137 (Transmembrane 7 superfamily member 1-like 1 protein)
length: 417
go: ENSG00000173264;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96N19-1; Sequence=Displayed; Name=2; IsoId=Q96N19-2; Sequence=VSP_022122; Name=3; IsoId=Q96N19-3; Sequence=VSP_022121, VSP_022122; Name=4; IsoId=Q96N19-4; Sequence=VSP_043278; Note=No experimental confirmation available.; Name=5; IsoId=Q96N19-5; Sequence=VSP_043592, VSP_043593; Note=No experimental confirmation available.; 


uniprotID: Q99999
geneSymbol: GAL3ST1
length: 423
go: ENSG00000128242;
snps: rs2267161
name:
Galactosylceramide sulfotransferase (GalCer sulfotransferase) (EC 2.8.2.11) (3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase) (3'-phosphoadenylylsulfate:galactosylceramide 3'-sulfotransferase) (Cerebroside sulfotransferase)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; galactosylceramide sulfotransferase activity [GO:0001733]; sulfotransferase activity [GO:0008146]; galactosylceramide biosynthetic process [GO:0006682]; myelination [GO:0042552]; protein N-linked glycosylation [GO:0006487]; spermatogenesis [GO:0007283]


uniprotID: P01350
geneSymbol: GAST
reactome: R-HSA-416476;R-HSA-881907;
pdb: 5WRJ;
length: 101
go: ENSG00000184502;
snps: rs34309618
location: SUBCELLULAR LOCATION: Secreted.
name:
Gastrin [Cleaved into: Gastrin-71 (Gastrin component I); Gastrin-52 (G52); Big gastrin (Gastrin component II) (Gastrin-34) (G34); Gastrin (Gastrin component III) (Gastrin-17) (G17); Gastrin-14 (G14); Gastrin-6 (G6)]

sequence:
MQRLCVYVLIFALALAAFSEASWKPRSQQPDAPLGTGANRDLELPWLEQQGPASHHRRQLGPQGPPHLVADPSKKQGPWLEEEEEAYGWMDFGRRSAEDEN

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; hormone activity [GO:0005179]; G protein-coupled receptor signaling pathway [GO:0007186]; response to food [GO:0032094]; signal transduction [GO:0007165]


uniprotID: P54826
geneSymbol: GAS1
reactome: R-HSA-5632681;R-HSA-5635838;
name: Growth arrest-specific protein 1 (GAS-1)
length: 345
go: ENSG00000180447;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell cycle arrest [GO:0007050]; cell fate commitment [GO:0045165]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; developmental growth [GO:0048589]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of protein processing [GO:0010955]; regulation of apoptotic process [GO:0042981]; regulation of ER to Golgi vesicle-mediated transport [GO:0060628]; regulation of smoothened signaling pathway [GO:0008589]


uniprotID: Q9BWH2
geneSymbol: FUNDC2
length: 189
go: ENSG00000165775;
name:
FUN14 domain-containing protein 2 (Cervical cancer proto-oncogene 3 protein) (HCC-3) (Hepatitis C virus core-binding protein 6)

sequence:
METSAPRAGSQVVATTARHSAAYRADPLRVSSRDKLTEMAASSQGNFEGNFESLDLAEFAKKQPWWRKLFGQESGPSAEKYSVATQLFIGGVTGWCTGFIFQKVGKLAATAVGGGFFLLQLANHTGYIKVDWQRVEKDMKKAKEQLKIRKSNQIPTEVRSKAEEVVSFVKKNVLVTGGFFGGFLLGMAS

opentargets:
integral component of mitochondrial outer membrane [GO:0031307]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; autophagy of mitochondrion [GO:0000422]


uniprotID: Q10981
geneSymbol: FUT2
length: 343
go: ENSG00000176920;
snps: rs1800021 rs1800022 rs1047781 rs1800025 rs602662
name:
Galactoside 2-alpha-L-fucosyltransferase 2 (EC 2.4.1.344) (EC 2.4.1.69) (Alpha(1,2)FT 2) (Fucosyltransferase 2) (GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2) (SE2) (Secretor blood group alpha-2-fucosyltransferase) (Secretor factor) (Se)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; fucosyltransferase activity [GO:0008417]; galactoside 2-alpha-L-fucosyltransferase activity [GO:0008107]; carbohydrate metabolic process [GO:0005975]; fucosylation [GO:0036065]; L-fucose catabolic process [GO:0042355]; protein glycosylation [GO:0006486]


uniprotID: Q9NQR9
geneSymbol: G6PC2
reactome: R-HSA-70263;
length: 355
go: ENSG00000152254;
snps: rs2232322 rs2232323 rs492594 rs2232326 rs2232327 rs2232328
name:
Glucose-6-phosphatase 2 (G-6-Pase 2) (G6Pase 2) (EC 3.1.3.9) (Islet-specific glucose-6-phosphatase catalytic subunit-related protein)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; glucose-6-phosphatase activity [GO:0004346]; gluconeogenesis [GO:0006094]; glucose 6-phosphate metabolic process [GO:0051156]; glucose homeostasis [GO:0042593]; regulation of insulin secretion [GO:0050796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NQR9-1; Sequence=Displayed; Name=2; IsoId=Q9NQR9-2; Sequence=VSP_033648, VSP_033649; Note=No experimental confirmation available.; Name=3; IsoId=Q9NQR9-3; Sequence=VSP_046180, VSP_046181; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15044018}; Multi-pass membrane protein {ECO:0000269|PubMed:15044018}.


uniprotID: P23945
geneSymbol: FSHR
reactome: R-HSA-375281;R-HSA-418555;
pdb: 1XUN;1XWD;4AY9;4MQW;
name: Follicle-stimulating hormone receptor (FSH-R) (Follitropin receptor)
length: 695
drug: DB00097;DB00066;DB00032;DB04786;DB00094;
snps: rs6165 rs28928870 rs6167 rs28928871 rs6166
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; follicle-stimulating hormone receptor activity [GO:0004963]; G protein-coupled peptide receptor activity [GO:0008528]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cellular response to follicle-stimulating hormone stimulus [GO:0071372]; female gamete generation [GO:0007292]; female gonad development [GO:0008585]; follicle-stimulating hormone signaling pathway [GO:0042699]; G protein-coupled receptor signaling pathway [GO:0007186]; gonad development [GO:0008406]; hormone-mediated signaling pathway [GO:0009755]; male gonad development [GO:0008584]; positive regulation of adenylate cyclase activity [GO:0045762]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; regulation of protein kinase A signaling [GO:0010738]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Long; Synonyms=R1; IsoId=P23945-1; Sequence=Displayed; Name=Short; Synonyms=E9Del; IsoId=P23945-2; Sequence=VSP_001953; Name=3; Synonyms=E6Del; IsoId=P23945-3; Sequence=VSP_043181; Name=4; Synonyms=E8'Inc; IsoId=P23945-4; Sequence=VSP_053411; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11847099, ECO:0000269|PubMed:24692546}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q8N4A0
geneSymbol: GALNT4
reactome: R-HSA-913709;
pdb: 5NQA;
length: 578
go: ENSG00000257594;
snps: rs17853610 rs2230281 rs2230283
name:
Polypeptide N-acetylgalactosaminyltransferase 4 (EC 2.4.1.41) (Polypeptide GalNAc transferase 4) (GalNAc-T4) (pp-GaNTase 4) (Protein-UDP acetylgalactosaminyltransferase 4) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 4)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; polypeptide N-acetylgalactosaminyltransferase activity [GO:0004653]; carbohydrate metabolic process [GO:0005975]; O-glycan processing [GO:0016266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4A0-1; Sequence=Displayed; Name=2; IsoId=Q8N4A0-2; Sequence=VSP_045009, VSP_045010; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305|PubMed:9804815}; Single-pass type II membrane protein {ECO:0000305|PubMed:9804815}.


uniprotID: O95954
geneSymbol: FTCD
reactome: R-HSA-70921;
length: 541
go: ENSG00000160282;
drug: DB03256;DB00142;DB00114;DB00116;
snps: rs28941768 rs119469015
name:
Formimidoyltransferase-cyclodeaminase (Formiminotransferase-cyclodeaminase) (FTCD) (LCHC1) [Includes: Glutamate formimidoyltransferase (EC 2.1.2.5) (Glutamate formiminotransferase) (Glutamate formyltransferase); Formimidoyltetrahydrofolate cyclodeaminase (EC 4.3.1.4) (Formiminotetrahydrofolate cyclodeaminase)]

sequence:

opentargets:
centriole [GO:0005814]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; smooth endoplasmic reticulum membrane [GO:0030868]; folic acid binding [GO:0005542]; formimidoyltetrahydrofolate cyclodeaminase activity [GO:0030412]; formimidoyltransferase activity [GO:0030407]; glutamate formimidoyltransferase activity [GO:0030409]; microtubule binding [GO:0008017]; cytoskeleton organization [GO:0007010]; folic acid-containing compound metabolic process [GO:0006760]; histidine catabolic process [GO:0006548]; histidine catabolic process to glutamate and formamide [GO:0019556]; histidine catabolic process to glutamate and formate [GO:0019557]; tetrahydrofolate interconversion [GO:0035999]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; IsoId=O95954-1; Sequence=Displayed; Name=C; IsoId=O95954-2; Sequence=VSP_004260; Name=D; IsoId=O95954-3; Sequence=VSP_004259; Name=E; IsoId=O95954-4; Sequence=VSP_004257, VSP_004258; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:16534631}. Golgi apparatus {ECO:0000250}. Note=More abundantly located around the mother centriole.


uniprotID: Q9BYC5
geneSymbol: FUT8
reactome: R-HSA-975578;
pdb: 2DE0;
length: 575
go: ENSG00000033170;
snps: rs2229678 rs35949016
name:
Alpha-(1,6)-fucosyltransferase (Alpha1-6FucT) (EC 2.4.1.68) (Fucosyltransferase 8) (GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase) (GDP-fucose--glycoprotein fucosyltransferase) (Glycoprotein 6-alpha-L-fucosyltransferase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; alpha-(1->6)-fucosyltransferase activity [GO:0046921]; glycoprotein 6-alpha-L-fucosyltransferase activity [GO:0008424]; SH3 domain binding [GO:0017124]; cell migration [GO:0016477]; GDP-L-fucose metabolic process [GO:0046368]; in utero embryonic development [GO:0001701]; integrin-mediated signaling pathway [GO:0007229]; L-fucose catabolic process [GO:0042355]; N-glycan fucosylation [GO:0036071]; N-glycan processing [GO:0006491]; oligosaccharide biosynthetic process [GO:0009312]; protein glycosylation in Golgi [GO:0033578]; protein N-linked glycosylation [GO:0006487]; protein N-linked glycosylation via asparagine [GO:0018279]; receptor metabolic process [GO:0043112]; regulation of cellular response to oxidative stress [GO:1900407]; regulation of gene expression [GO:0010468]; respiratory gaseous exchange [GO:0007585]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BYC5-1; Sequence=Displayed; Name=2; Synonyms=Retinal; IsoId=Q9BYC5-2; Sequence=VSP_001807, VSP_001808; Name=3; IsoId=Q9BYC5-3; Sequence=VSP_046837; Name=4; Synonyms=Retina-1, Retina-2; IsoId=Q9BYC5-4; Sequence=VSP_053361, VSP_053362; Note=Seems to be only expressed in retina, inactive as a fucosyltransferase.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Note=Membrane-bound form in trans cisternae of Golgi. {ECO:0000250}.


uniprotID: Q9HDB9
geneSymbol: ERVK-5
length: 667
name:
Endogenous retrovirus group K member 5 Gag polyprotein (HERV-K(II) Gag protein) (HERV-K_3q12.3 provirus ancestral Gag polyprotein) (Gag polyprotein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=1;  Comment=This protein is synthesized as a Gag polypeptide and as a Gag-Pro-Pol polyprotein. The later is the precursor of the Pro and Pol proteins. It is thought, by similarity with type-B retroviruses, to be generated by -1 frameshifts occurring at the Gag-Pro and Pro-Pol genes boundaries.; Name=1; IsoId=Q9HDB9-1; Sequence=Displayed; 


uniprotID: Q6P050
geneSymbol: FBXL22
reactome: R-HSA-8951664;R-HSA-983168;
name: F-box and leucine-rich protein 22
length: 247
go: ENSG00000197361;
snps: rs8035931
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:22972877}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; Z disc [GO:0030018]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]


uniprotID: Q13066
geneSymbol: GAGE2B; GAGE2C
name: G antigen 2B/2C (GAGE-2B) (GAGE-2C) (Cancer/testis antigen 4.2) (CT4.2) (G antigen 2C)
length: 116
sequence:
MSWRGRSTYRPRPRRYVEPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEAHSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGEKQSQC


uniprotID: Q92947
geneSymbol: GCDH
reactome: R-HSA-71064;
pdb: 1SIQ;1SIR;2R0M;2R0N;
name: Glutaryl-CoA dehydrogenase, mitochondrial (GCD) (EC 1.3.8.6)
length: 438
go: ENSG00000105607;
drug: DB03147;DB03245;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; fatty-acyl-CoA binding [GO:0000062]; flavin adenine dinucleotide binding [GO:0050660]; glutaryl-CoA dehydrogenase activity [GO:0004361]; fatty acid beta-oxidation using acyl-CoA dehydrogenase [GO:0033539]; fatty-acyl-CoA biosynthetic process [GO:0046949]; lysine catabolic process [GO:0006554]; tryptophan metabolic process [GO:0006568]

snps:
rs142967670 rs1273164833 rs776758971 rs766325846 rs897036690 rs139851890 rs777201305 rs749452002 rs774526353 rs149120354 rs121434373 rs747920711 rs751583656 rs766518430 rs765723076 rs751742575 rs121434371 rs121434366 rs761765983 rs764993096 rs1260580183 rs1205368991 rs1247712895 rs779315456 rs794726972 rs1257292639 rs768925619 rs781477694 rs748275416 rs121434370 rs1348974766 rs567564095 rs150938052 rs764608975 rs398123190 rs778153326 rs372983141 rs121434372 rs786204626 rs121434369 rs147611168 rs121434368 rs151201155 rs121434367 rs745360675 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q92947-1; Sequence=Displayed; Name=Short; IsoId=Q92947-2; Sequence=VSP_000145; 


uniprotID: P04150
geneSymbol: NR3C1
reactome: R-HSA-3371497;R-HSA-383280;R-HSA-400253;R-HSA-4090294;R-HSA-8849473;R-HSA-8939902;
name: Glucocorticoid receptor (GR) (Nuclear receptor subfamily 3 group C member 1)
length: 777
go: ENSG00000113580;
pdb:
1M2Z;1NHZ;1P93;3BQD;3CLD;3E7C;3H52;3K22;3K23;4CSJ;4HN5;4HN6;4LSJ;4MDD;4P6W;4P6X;4UDC;4UDD;5CBX;5CBY;5CBZ;5CC1;5E69;5E6A;5E6B;5E6C;5E6D;5EMC;5EMP;5EMQ;5G3J;5G5W;5NFP;5NFT;5UC3;5VA0;5VA7;6CFN;6EL6;6EL7;6EL9;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; mitochondrial matrix [GO:0005759]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; spindle [GO:0005819]; core promoter binding [GO:0001047]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; glucocorticoid receptor activity [GO:0004883]; Hsp90 protein binding [GO:0051879]; nuclear receptor activity [GO:0004879]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription factor activity, glucocorticoid-activated sequence-specific DNA binding [GO:0038050]; steroid binding [GO:0005496]; steroid hormone binding [GO:1990239]; SUMO binding [GO:0032183]; zinc ion binding [GO:0008270]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to glucocorticoid stimulus [GO:0071385]; cellular response to steroid hormone stimulus [GO:0071383]; cellular response to transforming growth factor beta stimulus [GO:0071560]; chromatin organization [GO:0006325]; chromosome segregation [GO:0007059]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; signal transduction [GO:0007165]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription, DNA-templated [GO:0006351]

drug:
DB00240;DB00288;DB00394;DB00443;DB01222;DB01410;DB01013;DB13158;DB00838;DB01380;DB01260;DB00547;DB01234;DB00223;DB06781;DB00687;DB00663;DB00180;DB00591;DB01047;DB00324;DB01185;DB00846;DB08906;DB00588;DB00769;DB00741;DB00873;DB00253;DB00351;DB00959;DB00834;DB00764;DB05423;DB01384;DB01130;DB00860;DB00635;DB00896;DB00421;DB00620;DB08867;DB00596;

snps:
rs6190 rs148102613 rs6192 rs542110718 rs56149945 rs104893913 rs104893909 rs104893911 rs104893908 rs104893914 rs1027058734 rs121909727 rs104893910 rs121909726 rs104893912 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=16;  Name=Alpha; Synonyms=Alpha-A, GR-alphaA; IsoId=P04150-1; Sequence=Displayed; Note=Predominant physiological form. {ECO:0000269|PubMed:15866175}; Name=Beta; Synonyms=Beta-A; IsoId=P04150-2; Sequence=VSP_003703; Name=Alpha-2; Synonyms=Gamma; IsoId=P04150-3; Sequence=VSP_007363; Note=Due to a partial intron retention.; Name=Beta-2; IsoId=P04150-6; Sequence=VSP_007363, VSP_003703; Note=Due to a partial intron retention.; Name=GR-A alpha; IsoId=P04150-5; Sequence=VSP_013340; Note=Lacks exons 5, 6 and 7. Found in glucocorticoid-resistant myeloma patients. {ECO:0000269|PubMed:8358712}; Name=GR-A beta; IsoId=P04150-7; Sequence=VSP_013340, VSP_003703; Note=Lacks exons 5, 6 and 7. {ECO:0000269|PubMed:8358712}; Name=GR-P; IsoId=P04150-4; Sequence=Not described; Note=Encoded by exons 2-7 plus several basepairs from the subsequent intron region. Lacks the ligand binding domain. Accounts for up to 10-20% of mRNAs. {ECO:0000269|PubMed:8358712}; Name=Alpha-B; Synonyms=GR-alphaB; IsoId=P04150-8; Sequence=VSP_018773; Note=Produced by alternative initiation at Met-27 of isoform Alpha. {ECO:0000244|PubMed:22814378}; Name=Beta-B; IsoId=P04150-9; Sequence=VSP_018773, VSP_003703; Note=Produced by alternative initiation at Met-27 of isoform Beta. {ECO:0000244|PubMed:22814378, ECO:0000269|PubMed:15866175}; Name=10; Synonyms=hGRDelta313-338; IsoId=P04150-10; Sequence=VSP_043908; Name=Alpha-C1; Synonyms=GR-alphaC1; IsoId=P04150-11; Sequence=VSP_058317; Note=Produced by alternative initiation at Met-86 of isoform Alpha. {ECO:0000269|PubMed:15866175}; Name=Alpha-C2; Synonyms=GR-alphaC2; IsoId=P04150-12; Sequence=VSP_058316; Note=Produced by alternative initiation at Met-90 of isoform Alpha. {ECO:0000269|PubMed:15866175}; Name=Alpha-C3; Synonyms=GR-alphaC3; IsoId=P04150-13; Sequence=VSP_058315; Note=Produced by alternative initiation at Met-98 of isoform Alpha. {ECO:0000269|PubMed:15866175}; Name=Alpha-D1; Synonyms=GR-alphaD1; IsoId=P04150-14; Sequence=VSP_058314; Note=Produced by alternative initiation at Met-316 of isoform Alpha. {ECO:0000269|PubMed:15866175}; Name=Alpha-D2; Synonyms=GR-alphaD2; IsoId=P04150-15; Sequence=VSP_058313; Note=Produced by alternative initiation at Met-331 of isoform Alpha. {ECO:0000269|PubMed:15866175}; Name=Alpha-D3; Synonyms=GR-alphaD3; IsoId=P04150-16; Sequence=VSP_058312; Note=Produced by alternative initiation at Met-336 of isoform Alpha. {ECO:0000269|PubMed:15866175}; 

location:
SUBCELLULAR LOCATION: Isoform Alpha: Cytoplasm {ECO:0000269|PubMed:15769988, ECO:0000269|PubMed:17635946, ECO:0000269|PubMed:18838540, ECO:0000269|PubMed:27120390, ECO:0000269|PubMed:8621628}. Nucleus {ECO:0000269|PubMed:15769988, ECO:0000269|PubMed:17635946, ECO:0000269|PubMed:18838540, ECO:0000269|PubMed:27120390, ECO:0000269|PubMed:8621628}. Mitochondrion {ECO:0000269|PubMed:21664385}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:25847991}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:25847991}. Note=After ligand activation, translocates from the cytoplasm to the nucleus. {ECO:0000269|PubMed:18838540, ECO:0000269|PubMed:27120390, ECO:0000269|PubMed:8621628}.; SUBCELLULAR LOCATION: Isoform Beta: Nucleus {ECO:0000269|PubMed:19248771, ECO:0000269|PubMed:26711253, ECO:0000269|PubMed:8621628}. Cytoplasm {ECO:0000269|PubMed:19248771, ECO:0000269|PubMed:26711253}. Note=Expressed predominantly in the nucleus with some expression also detected in the cytoplasm. {ECO:0000269|PubMed:19248771, ECO:0000269|PubMed:26711253}.; SUBCELLULAR LOCATION: Isoform Alpha-B: Nucleus {ECO:0000269|PubMed:15866175}. Cytoplasm {ECO:0000269|PubMed:15866175}. Note=After ligand activation, translocates from the cytoplasm to the nucleus. {ECO:0000269|PubMed:15866175}.


uniprotID: O95395
geneSymbol: GCNT3
reactome: R-HSA-913709;
length: 438
go: ENSG00000140297;
name:
Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 (EC 2.4.1.102) (EC 2.4.1.148) (EC 2.4.1.150) (C2GnT-mucin type) (C2GnT-M) (hC2GnT-M) (Core 2/core 4 beta-1,6-N-acetylglucosaminyltransferase) (C2/4GnT)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity [GO:0047225]; beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity [GO:0003829]; N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity [GO:0008109]; carbohydrate metabolic process [GO:0005975]; immunoglobulin production in mucosal tissue [GO:0002426]; intestinal absorption [GO:0050892]; kidney morphogenesis [GO:0060993]; O-glycan processing [GO:0016266]; protein O-linked glycosylation [GO:0006493]; tissue morphogenesis [GO:0048729]


uniprotID: Q8IWJ2
geneSymbol: GCC2
reactome: R-HSA-6811440;
pdb: 3BBP;
length: 1684
go: ENSG00000135968;
snps: rs2718698 rs1061202
name:
GRIP and coiled-coil domain-containing protein 2 (185 kDa Golgi coiled-coil protein) (GCC185) (CLL-associated antigen KW-11) (CTCL tumor antigen se1-1) (Ran-binding protein 2-like 4) (RanBP2L4) (Renal carcinoma antigen NY-REN-53)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; trans-Golgi network [GO:0005802]; identical protein binding [GO:0042802]; Golgi ribbon formation [GO:0090161]; late endosome to Golgi transport [GO:0034499]; microtubule anchoring [GO:0034453]; microtubule organizing center organization [GO:0031023]; protein localization to Golgi apparatus [GO:0034067]; protein targeting to lysosome [GO:0006622]; recycling endosome to Golgi transport [GO:0071955]; regulation of protein exit from endoplasmic reticulum [GO:0070861]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IWJ2-1; Sequence=Displayed; Name=2; IsoId=Q8IWJ2-3; Sequence=VSP_040106, VSP_040107; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein.


uniprotID: P23378
geneSymbol: GLDC
reactome: R-HSA-6783984;
length: 1020
go: ENSG00000178445;
drug: DB00145;DB00114;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:28244183}.
name:
Glycine dehydrogenase (decarboxylating), mitochondrial (EC 1.4.4.2) (Glycine cleavage system P protein) (Glycine decarboxylase) (Glycine dehydrogenase (aminomethyl-transferring))

sequence:

opentargets:
glycine cleavage complex [GO:0005960]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; electron transfer activity [GO:0009055]; enzyme binding [GO:0019899]; glycine binding [GO:0016594]; glycine dehydrogenase (decarboxylating) activity [GO:0004375]; lyase activity [GO:0016829]; protein homodimerization activity [GO:0042803]; pyridoxal binding [GO:0070280]; pyridoxal phosphate binding [GO:0030170]; cellular response to leukemia inhibitory factor [GO:1990830]; glycine catabolic process [GO:0006546]; glycine decarboxylation via glycine cleavage system [GO:0019464]; response to lipoic acid [GO:1903442]; response to methylamine [GO:0036255]

snps:
rs376578742 rs386833589 rs386833593 rs10975674 rs150171524 rs774093619 rs761957837 rs121964976 rs121964974 rs772871471 rs386833556 rs188269735 rs758029533 


uniprotID: H0YM25
geneSymbol: GOLGA6L22
name: Golgin subfamily A member 6-like protein 22
length: 810
go: ENSG00000277865;
sequence:


uniprotID: Q6ZQY3
geneSymbol: GADL1
reactome: R-HSA-1614558;R-HSA-70614;
length: 521
go: ENSG00000144644;
drug: DB00114;
name:
Acidic amino acid decarboxylase GADL1 (Aspartate 1-decarboxylase) (ADC) (HuADC) (EC 4.1.1.11) (Cysteine sulfinic acid decarboxylase) (CSADC) (HuCSADC) (EC 4.1.1.29) (Glutamate decarboxylase-like protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; aspartate 1-decarboxylase activity [GO:0004068]; carboxy-lyase activity [GO:0016831]; pyridoxal phosphate binding [GO:0030170]; sulfinoalanine decarboxylase activity [GO:0004782]; cellular amino acid biosynthetic process [GO:0008652]; sulfur amino acid catabolic process [GO:0000098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZQY3-1; Sequence=Displayed; Name=2; IsoId=Q6ZQY3-3; Sequence=VSP_036227; Note=No experimental confirmation available.; 


uniprotID: Q9UP38
geneSymbol: FZD1
reactome: R-HSA-201681;R-HSA-373080;R-HSA-4086400;R-HSA-4608870;R-HSA-4641262;
name: Frizzled-1 (Fz-1) (hFz1) (FzE1)
length: 647
go: ENSG00000157240;
snps: rs3750146
sequence:

opentargets:
cell surface [GO:0009986]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; Wnt signalosome [GO:1990909]; frizzled binding [GO:0005109]; G protein-coupled receptor activity [GO:0004930]; PDZ domain binding [GO:0030165]; signaling receptor binding [GO:0005102]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; autocrine signaling [GO:0035425]; beta-catenin destruction complex disassembly [GO:1904886]; canonical Wnt signaling pathway [GO:0060070]; canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation [GO:0044338]; canonical Wnt signaling pathway involved in osteoblast differentiation [GO:0044339]; cell-cell signaling [GO:0007267]; epithelial cell differentiation [GO:0030855]; hard palate development [GO:0060022]; membranous septum morphogenesis [GO:0003149]; muscular septum morphogenesis [GO:0003150]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of oxidative stress-induced neuron death [GO:1903204]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron differentiation [GO:0030182]; non-canonical Wnt signaling pathway [GO:0035567]; outflow tract morphogenesis [GO:0003151]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription, DNA-templated [GO:0045893]; presynapse assembly [GO:0099054]; regulation of presynapse assembly [GO:1905606]; response to drug [GO:0042493]; Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation [GO:1904953]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10557084}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q14332
geneSymbol: FZD2
reactome: R-HSA-201681;R-HSA-373080;R-HSA-4086398;R-HSA-4608870;R-HSA-4641262;R-HSA-5140745;
pdb: 6C0B;
name: Frizzled-2 (Fz-2) (hFz2) (FzE2)
length: 565
go: ENSG00000180340;
sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; PDZ domain binding [GO:0030165]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; beta-catenin destruction complex disassembly [GO:1904886]; canonical Wnt signaling pathway [GO:0060070]; cochlea morphogenesis [GO:0090103]; epithelial cell differentiation [GO:0030855]; hard palate development [GO:0060022]; inner ear receptor cell development [GO:0060119]; membranous septum morphogenesis [GO:0003149]; muscular septum morphogenesis [GO:0003150]; neuron differentiation [GO:0030182]; non-canonical Wnt signaling pathway [GO:0035567]; outflow tract morphogenesis [GO:0003151]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of G protein-coupled receptor signaling pathway [GO:0045745]; positive regulation of transcription, DNA-templated [GO:0045893]; sensory perception of smell [GO:0007608]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q96MZ0
geneSymbol: GDAP1L1
name: Ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1-L1)
length: 367
go: ENSG00000124194;
snps: rs754794599
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96MZ0-1; Sequence=Displayed; Name=2; IsoId=Q96MZ0-2; Sequence=VSP_008793, VSP_008794; Note=No experimental confirmation available.; Name=3; IsoId=Q96MZ0-4; Sequence=VSP_053683; Note=No experimental confirmation available.; 


uniprotID: O14764
geneSymbol: GABRD
name: Gamma-aminobutyric acid receptor subunit delta (GABA(A) receptor subunit delta)
length: 452
go: ENSG00000187730;
snps: rs121434580 rs139300921 rs41307846 rs1057519556
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; GABA-A receptor complex [GO:1902711]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; neuron projection [GO:0043005]; synapse [GO:0045202]; chloride channel activity [GO:0005254]; GABA-A receptor activity [GO:0004890]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; signal transduction [GO:0007165]

drug:
DB00659;DB00546;DB00404;DB00543;DB01558;DB00237;DB00241;DB00475;DB01594;DB00349;DB01068;DB00628;DB01559;DB01189;DB00829;DB00228;DB01049;DB01215;DB00402;DB00898;DB00189;DB00292;DB01567;DB01205;DB00690;DB01437;DB00801;DB01159;DB00753;DB01587;DB00186;DB00371;DB00463;DB01028;DB01107;DB00683;DB01595;DB00334;DB00842;DB00312;DB01708;DB01588;DB00794;DB00818;DB01589;DB01236;DB00306;DB00231;DB11582;DB00273;DB00897;


uniprotID: Q92538
geneSymbol: GBF1
reactome: R-HSA-421837;R-HSA-5620916;R-HSA-6807878;R-HSA-6811434;
name: Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 (BFA-resistant GEF 1)
length: 1859
go: ENSG00000107862;
snps: rs11191274
sequence:

opentargets:
cell leading edge [GO:0031252]; cis-Golgi network [GO:0005801]; cytosol [GO:0005829]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; lipid droplet [GO:0005811]; membrane [GO:0016020]; mitochondrion [GO:0005739]; peroxisome [GO:0005777]; trans-Golgi network [GO:0005802]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; guanyl-nucleotide exchange factor activity [GO:0005085]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; cell activation involved in immune response [GO:0002263]; cellular response to virus [GO:0098586]; COPI coating of Golgi vesicle [GO:0048205]; endoplasmic reticulum-Golgi intermediate compartment organization [GO:0097111]; ER to Golgi vesicle-mediated transport [GO:0006888]; establishment of monopolar cell polarity [GO:0061162]; Golgi disassembly [GO:0090166]; Golgi organization [GO:0007030]; Golgi to endosome transport [GO:0006895]; neutrophil chemotaxis [GO:0030593]; post-Golgi vesicle-mediated transport [GO:0006892]; protein localization to endoplasmic reticulum exit site [GO:0070973]; protein localization to endoplasmic reticulum tubular network [GO:1903420]; protein localization to Golgi apparatus [GO:0034067]; protein transport [GO:0015031]; reactive oxygen species biosynthetic process [GO:1903409]; regulation of ARF protein signal transduction [GO:0032012]; regulation of mitotic cell cycle [GO:0007346]; regulation of protein localization to cell surface [GO:2000008]; retrograde transport, endosome to Golgi [GO:0042147]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92538-1; Sequence=Displayed; Name=2; IsoId=Q92538-2; Sequence=VSP_057522, VSP_057523; Name=3; IsoId=Q92538-3; Sequence=VSP_057523; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network {ECO:0000269|PubMed:12047556, ECO:0000269|PubMed:12808027, ECO:0000269|PubMed:15616190}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269|PubMed:12808027}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:23386609}. Cytoplasm {ECO:0000269|PubMed:22573891}. Lipid droplet {ECO:0000269|PubMed:21789191}. Membrane; Peripheral membrane protein {ECO:0000305}. Note=Cycles rapidly on and off early Golgi membranes (PubMed:15616190). Stabilized on membranes when complexed with ARF1-GDP and is released from both ARF1 and membranes after it catalyzes GDP displacement and ARF1 binds GTP. Continuous cycles of recruitment and dissociation of GBF1 to membranes are required for sustained ARF activation and COP I recruitment (PubMed:15813748). In neutrophils is translocated from the Golgi to the leading edge upon GPCR stimulation (PubMed:22573891). Localization to lipid droplets is questionable (PubMed:22185782). {ECO:0000269|PubMed:15616190, ECO:0000269|PubMed:22185782, ECO:0000269|PubMed:22573891, ECO:0000305|PubMed:15616190, ECO:0000305|PubMed:15813748}.


uniprotID: P48728
geneSymbol: AMT
reactome: R-HSA-6783984;
pdb: 1WSR;1WSV;
name: Aminomethyltransferase, mitochondrial (EC 2.1.2.10) (Glycine cleavage system T protein) (GCVT)
length: 403
go: ENSG00000145020;
drug: DB04789;DB00157;DB00116;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305|PubMed:16051266}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; aminomethyltransferase activity [GO:0004047]; transaminase activity [GO:0008483]; glycine catabolic process [GO:0006546]; glycine decarboxylation via glycine cleavage system [GO:0019464]

snps:
rs121964983 rs121964982 rs1126422 rs386833682 rs116192290 rs781466698 rs779483959 rs121964981 rs121964984 rs1056820947 rs121964985 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P48728-1; Sequence=Displayed; Name=2; IsoId=P48728-2; Sequence=VSP_042557; Note=No experimental confirmation available.; Name=3; IsoId=P48728-3; Sequence=VSP_043288; Note=No experimental confirmation available.; Name=4; IsoId=P48728-4; Sequence=VSP_045418; Note=No experimental confirmation available.; 


uniprotID: P59768
geneSymbol: GNG2
pdb: 4KFM;5HE0;5HE1;5HE2;5HE3;5UKK;5UKL;5UKM;5UZ7;6B3J;6D9H;6DDE;6DDF;6E3Y;6G79;6GDG;
name: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 (G gamma-I)
sequence: MASNNTASIAQARKLVEQLKMEANIDRIKVSKAAADLMAYCEAHAKEDPLLTPVPASENPFREKKFFCAIL
length: 71
go: ENSG00000186469;
drug: DB01159;
opentargets:
extracellular exosome [GO:0070062]; heterotrimeric G-protein complex [GO:0005834]; membrane [GO:0016020]; plasma membrane [GO:0005886]; G-protein beta-subunit binding [GO:0031681]; GTPase activity [GO:0003924]; adenylate cyclase-activating dopamine receptor signaling pathway [GO:0007191]; cell proliferation [GO:0008283]; cellular response to catecholamine stimulus [GO:0071870]; cellular response to prostaglandin E stimulus [GO:0071380]; G protein-coupled receptor signaling pathway [GO:0007186]; platelet activation [GO:0030168]; protein folding [GO:0006457]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]


uniprotID: P78334
geneSymbol: GABRE
name: Gamma-aminobutyric acid receptor subunit epsilon (GABA(A) receptor subunit epsilon)
length: 506
go: ENSG00000102287;
snps: rs17855708 rs1139916
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; dendrite membrane [GO:0032590]; GABA-A receptor complex [GO:1902711]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; postsynapse [GO:0098794]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; chloride channel activity [GO:0005254]; GABA-A receptor activity [GO:0004890]; GABA-gated chloride ion channel activity [GO:0022851]; inhibitory extracellular ligand-gated ion channel activity [GO:0005237]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; gamma-aminobutyric acid signaling pathway [GO:0007214]; ion transmembrane transport [GO:0034220]; negative regulation of chloride transport [GO:2001226]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; regulation of postsynaptic membrane potential [GO:0060078]; signal transduction [GO:0007165]; synaptic transmission, GABAergic [GO:0051932]

drug:
DB00659;DB00546;DB00404;DB00543;DB01558;DB00237;DB00241;DB00475;DB01594;DB00349;DB01068;DB00628;DB01559;DB01189;DB00829;DB00228;DB01049;DB01215;DB00402;DB00898;DB00189;DB00292;DB01567;DB01205;DB00690;DB01437;DB00801;DB01159;DB00753;DB01587;DB00186;DB00371;DB00463;DB01028;DB01107;DB00683;DB01595;DB00334;DB00842;DB00312;DB01708;DB01588;DB00794;DB00818;DB01589;DB01236;DB00306;DB00231;DB11582;DB00273;DB00897;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78334-1; Sequence=Displayed; Name=2; IsoId=P78334-2; Sequence=VSP_055776, VSP_055777; Note=No experimental confirmation available.; 


uniprotID: P56159
geneSymbol: GFRA1
reactome: R-HSA-419037;R-HSA-5673001;R-HSA-8853659;
length: 465
go: ENSG00000151892;
snps: rs8192662 rs2072276 rs924541616
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
name:
GDNF family receptor alpha-1 (GDNF receptor alpha-1) (GDNFR-alpha-1) (GFR-alpha-1) (RET ligand 1) (TGF-beta-related neurotrophic factor receptor 1)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extrinsic component of membrane [GO:0019898]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; glial cell-derived neurotrophic factor receptor activity [GO:0016167]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor binding [GO:0005102]; axon guidance [GO:0007411]; cell surface receptor signaling pathway [GO:0007166]; MAPK cascade [GO:0000165]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P56159-1; Sequence=Displayed; Name=2; IsoId=P56159-2; Sequence=VSP_001660; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q86SF2
geneSymbol: GALNT7
reactome: R-HSA-913709;
length: 657
go: ENSG00000109586;
name:
N-acetylgalactosaminyltransferase 7 (EC 2.4.1.-) (Polypeptide GalNAc transferase 7) (GalNAc-T7) (pp-GaNTase 7) (Protein-UDP acetylgalactosaminyltransferase 7) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; polypeptide N-acetylgalactosaminyltransferase activity [GO:0004653]; carbohydrate metabolic process [GO:0005975]; O-glycan processing [GO:0016266]; protein O-linked glycosylation [GO:0006493]


uniprotID: P41250
geneSymbol: GARS
reactome: R-HSA-379716;R-HSA-379726;
pdb: 2PME;2PMF;2Q5H;2Q5I;2ZT5;2ZT6;2ZT7;2ZT8;2ZXF;4KQE;4KR2;4KR3;4QEI;5E6M;
length: 739
go: ENSG00000106105;
drug: DB00145;
name:
Glycine--tRNA ligase (EC 3.6.1.17) (EC 6.1.1.14) (Diadenosine tetraphosphate synthetase) (AP-4-A synthetase) (Glycyl-tRNA synthetase) (GlyRS)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; secretory granule [GO:0030141]; ATP binding [GO:0005524]; bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity [GO:0004081]; glycine-tRNA ligase activity [GO:0004820]; identical protein binding [GO:0042802]; protein dimerization activity [GO:0046983]; diadenosine tetraphosphate biosynthetic process [GO:0015966]; glycyl-tRNA aminoacylation [GO:0006426]; mitochondrial glycyl-tRNA aminoacylation [GO:0070150]; tRNA aminoacylation for protein translation [GO:0006418]

snps:
rs1049402 rs370531212 rs137852645 rs137852644 rs2230310 rs137852643 rs137852648 rs1135401748 rs17159287 rs770924455 rs1060502838 rs137852647 rs137852646 rs766280100 rs201358272 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17035524}. Cell projection, axon {ECO:0000269|PubMed:17035524, ECO:0000269|PubMed:25168514}. Secreted {ECO:0000250|UniProtKB:Q9CZD3}. Secreted, exosome {ECO:0000250|UniProtKB:Q9CZD3}. Note=Secreted by motor neuron, possibly through the exosome pathway (By similarity). In transfected COS7 cells, not detected in mitochondria, nor in Golgi apparatus (PubMed:17035524). {ECO:0000250|UniProtKB:Q9CZD3, ECO:0000269|PubMed:17035524}.


uniprotID: O95166
geneSymbol: GABARAP
reactome: R-HSA-1632852;R-HSA-8854214;
pdb: 1GNU;1KLV;1KM7;1KOT;3D32;3DOW;3WIM;4XC2;5DPS;
name: Gamma-aminobutyric acid receptor-associated protein (GABA(A) receptor-associated protein) (MM46)
length: 117
go: ENSG00000170296;
sequence:
MKFVYKEEHPFEKRRSEGEKIRKKYPDRVPVIVEKAPKARIGDLDKKKYLVPSDLTVGQFYFLIRKRIHLRAEDALFFFVNNVIPPTSATMGQLYQEHHEEDFFLYIAYSDESVYGL

opentargets:
actin cytoskeleton [GO:0015629]; autophagosome [GO:0005776]; autophagosome membrane [GO:0000421]; axoneme [GO:0005930]; cell body [GO:0044297]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; lysosome [GO:0005764]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; smooth endoplasmic reticulum [GO:0005790]; sperm midpiece [GO:0097225]; beta-tubulin binding [GO:0048487]; GABA receptor binding [GO:0050811]; microtubule binding [GO:0008017]; ubiquitin protein ligase binding [GO:0031625]; autophagosome assembly [GO:0000045]; autophagosome maturation [GO:0097352]; autophagy of mitochondrion [GO:0000422]; cellular response to nitrogen starvation [GO:0006995]; chemical synaptic transmission [GO:0007268]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; macroautophagy [GO:0016236]; microtubule cytoskeleton organization [GO:0000226]; protein targeting [GO:0006605]

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P60517}. Golgi apparatus membrane {ECO:0000250}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:12507496, ECO:0000269|PubMed:15169837, ECO:0000269|PubMed:17580304, ECO:0000269|PubMed:19056683}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:P60517}. Note=Largely associated with intracellular membrane structures including the Golgi apparatus and postsynaptic cisternae. Colocalizes with microtubules (By similarity). Localizes also to discrete punctae along the ciliary axoneme (By similarity). {ECO:0000250|UniProtKB:P60517, ECO:0000250|UniProtKB:Q9DCD6}.


