# annotation

uniprotID: Q0VG06
geneSymbol: FAAP100
reactome: R-HSA-6783310;
name: Fanconi anemia core complex-associated protein 100 (Fanconi anemia-associated protein of 100 kDa)
length: 881
go: ENSG00000185504;
snps: rs11552304 rs14422
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17396147}.
sequence:

opentargets:
cytosol [GO:0005829]; Fanconi anaemia nuclear complex [GO:0043240]; intermediate filament cytoskeleton [GO:0045111]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; interstrand cross-link repair [GO:0036297]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=b; IsoId=Q0VG06-1; Sequence=Displayed; Name=2; IsoId=Q0VG06-2; Sequence=VSP_025922, VSP_025923; Note=No experimental confirmation available.; Name=3; Synonyms=a; IsoId=Q0VG06-3; Sequence=VSP_038262; 


uniprotID: Q7Z6J6
geneSymbol: FRMD5
name: FERM domain-containing protein 5
length: 570
go: ENSG00000171877;
sequence:

opentargets:
adherens junction [GO:0005912]; cytoskeleton [GO:0005856]; integral component of membrane [GO:0016021]; cytoskeletal protein binding [GO:0008092]; integrin binding [GO:0005178]; protein kinase binding [GO:0019901]; actomyosin structure organization [GO:0031032]; negative regulation of cell motility [GO:2000146]; positive regulation of cell adhesion [GO:0045785]; regulation of cell migration [GO:0030334]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z6J6-1; Sequence=Displayed; Name=2; IsoId=Q7Z6J6-2; Sequence=VSP_019982; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cell junction, adherens junction {ECO:0000269|PubMed:22846708}.


uniprotID: Q9C009
geneSymbol: FOXQ1
length: 403
go: ENSG00000164379;
snps: rs9502889 rs9502890
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
name:
Forkhead box protein Q1 (HNF-3/forkhead-like protein 1) (HFH-1) (Hepatocyte nuclear factor 3 forkhead homolog 1)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; hair follicle morphogenesis [GO:0031069]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q6PJQ5
geneSymbol: FOXR2
name: Forkhead box protein R2 (Forkhead box protein N6)
length: 311
go: ENSG00000189299;
snps: rs2375465
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]


uniprotID: A9Z1Z3
geneSymbol: FER1L4
name: Fer-1-like protein 4
length: 1794
opentargets: integral component of membrane [GO:0016021]
snps: rs1557202 rs11698021 rs2277862
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=A9Z1Z3-1; Sequence=Displayed; Name=2; IsoId=A9Z1Z3-2; Sequence=VSP_034984; Note=No experimental confirmation available.; Name=3; IsoId=A9Z1Z3-3; Sequence=VSP_034988, VSP_034989; Name=4; IsoId=A9Z1Z3-4; Sequence=VSP_034985, VSP_034986, VSP_034987; Note=No experimental confirmation available.; 


uniprotID: O60478
geneSymbol: GPR137B
name: Integral membrane protein GPR137B (Transmembrane 7 superfamily member 1 protein)
length: 399
go: ENSG00000077585;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:22729905}; Multi-pass membrane protein {ECO:0000269|PubMed:22729905}.


uniprotID: Q9NU39
geneSymbol: FOXD4L1
name: Forkhead box protein D4-like 1 (FOXD4-like 1)
length: 408
go: ENSG00000184492;
snps: rs9308683
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
sequence:


uniprotID: Q6VB84
geneSymbol: FOXD4L3
name: Forkhead box protein D4-like 3 (FOXD4-like 3)
length: 417
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
sequence:


uniprotID: Q96ME1
geneSymbol: FBXL18
reactome: R-HSA-8854050;R-HSA-8951664;R-HSA-983168;
name: F-box/LRR-repeat protein 18 (F-box and leucine-rich repeat protein 18)
length: 805
go: ENSG00000155034;
snps: rs33941092
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=4;  Name=1; IsoId=Q96ME1-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96ME1-2; Sequence=VSP_013012, VSP_013013; Note=No experimental confirmation available.; Name=3; IsoId=Q96ME1-3; Sequence=VSP_013009, VSP_013010; Note=No experimental confirmation available.; Name=4; IsoId=Q96ME1-4; Sequence=VSP_013011, VSP_013014; Note=No experimental confirmation available.; 


uniprotID: O60320
geneSymbol: FAM189A1
name: Protein FAM189A1 (Transmembrane protein 228)
length: 539
go: ENSG00000104059;
opentargets: integral component of membrane [GO:0016021]
snps: rs2292628 rs2306933 rs2256277 rs2256273 rs2279482
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60320-1; Sequence=Displayed; Name=2; IsoId=O60320-2; Sequence=VSP_030273; 


uniprotID: Q9NX38
geneSymbol: FAM206A
name: Protein Simiate (Protein FAM206A)
length: 181
go: ENSG00000119328;
sequence:
MATEPEAAEPVVPSLVDRYFTRWYKPDVKGKFCEDHCILQHSNRICVITLAESHPVLQSGKTIKSISYQISTNCSRLQNKVSGKFKRGAQFLTELAPLCKIYCSDGEEYTVSSCVRGRLMEVNENILHKPSILQEKPSTEGYIAVVLPKFEESKSITEGLLTQKQYEEVMVKRINATTATS

opentargets:
dendrite [GO:0030425]; filopodium tip [GO:0032433]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; nuclear speck [GO:0016607]; actin filament binding [GO:0051015]; actin monomer binding [GO:0003785]; dendrite morphogenesis [GO:0048813]; regulation of actin filament polymerization [GO:0030833]; regulation of filopodium assembly [GO:0051489]

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000250|UniProtKB:Q80ZQ9}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q80ZQ9}. Nucleus {ECO:0000250|UniProtKB:Q80ZQ9}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q80ZQ9}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q80ZQ9}. Note=Localizes to somata and dendrites in cortical neurons (By similarity). Colocalizes with G- and F-actin in lamellipodia (By similarity). Colocalizes in the nucleus with PTK2 (By similarity). {ECO:0000250|UniProtKB:Q80ZQ9}.


uniprotID: Q96MY7
geneSymbol: FAM161B
name: Protein FAM161B
length: 647
go: ENSG00000156050;
snps: rs11848954 rs28927675 rs17094077
sequence:

opentargets:
cytoplasmic microtubule [GO:0005881]; microtubule cytoskeleton [GO:0015630]; cilium organization [GO:0044782]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MY7-1; Sequence=Displayed; Name=2; IsoId=Q96MY7-2; Sequence=VSP_046328; Note=No experimental confirmation available.; 


uniprotID: Q8N3H0
geneSymbol: FAM19A2
name: Protein FAM19A2 (Chemokine-like protein TAFA-2)
length: 131
go: ENSG00000198673;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15028294}.
sequence:
MSKRYLQKATKGKLLIIIFIVTLWGKVVSSANHHKAHHVKTGTCEVVALHRCCNKNKIEERSQTVKCSCFPGQVAGTTRAAPSCVDASIVEQKWWCHMQPCLEGEECKVLPDRKGWSCSSGNKVKTTRVTH

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N3H0-1; Sequence=Displayed; Name=2; IsoId=Q8N3H0-2; Sequence=VSP_016066; Note=No experimental confirmation available.; 


uniprotID: Q8N5Q1
geneSymbol: FAM71E2
name: Protein FAM71E2
length: 922
go: ENSG00000180043;
snps: rs35996821
sequence:


uniprotID: Q8N7N1
geneSymbol: FAM86B1
name: Putative protein N-methyltransferase FAM86B1 (EC 2.1.1.-)
length: 296
go: ENSG00000186523;
opentargets: methyltransferase activity [GO:0008168]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N7N1-1; Sequence=Displayed; Name=2; IsoId=Q8N7N1-2; Sequence=VSP_028646, VSP_028647; 


uniprotID: Q92817
geneSymbol: EVPL
reactome: R-HSA-6809371;
pdb: 4QMD;
length: 2033
go: ENSG00000167880;
snps: rs397833081 rs10445216 rs2071192 rs7342883
name:
Envoplakin (210 kDa cornified envelope precursor protein) (210 kDa paraneoplastic pemphigus antigen) (p210)

sequence:

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; desmosome [GO:0030057]; extracellular exosome [GO:0070062]; intermediate filament cytoskeleton [GO:0045111]; membrane [GO:0016020]; cadherin binding [GO:0045296]; intermediate filament binding [GO:0019215]; protein binding, bridging [GO:0030674]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; epidermis development [GO:0008544]; intermediate filament cytoskeleton organization [GO:0045104]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]; wound healing [GO:0042060]

location:
SUBCELLULAR LOCATION: Cell junction, desmosome. Cornified envelope. Cytoplasm, cytoskeleton. Note=Colocalized with DSP at desmosomes and along intermediate filaments.


uniprotID: Q8N9I5
geneSymbol: FADS6
name: Fatty acid desaturase 6 (EC 1.14.19.-)
length: 356
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; oxidoreductase activity [GO:0016491]; fatty acid biosynthetic process [GO:0006633]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9I5-1; Sequence=Displayed; Name=2; IsoId=Q8N9I5-2; Sequence=VSP_034320; Note=No experimental confirmation available.; 


uniprotID: P98173
geneSymbol: FAM3A
name: Protein FAM3A (Cytokine-like protein 2-19)
length: 230
go: ENSG00000071889;
snps: rs35985994 rs1050788
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; antifungal humoral response [GO:0019732]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; negative regulation of antifungal innate immune response [GO:1905035]; negative regulation of gluconeogenesis [GO:0045721]; regulation of lipid biosynthetic process [GO:0046890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P98173-1; Sequence=Displayed; Name=2; IsoId=P98173-2; Sequence=VSP_042778; Note=No experimental confirmation available.; Name=3; IsoId=P98173-3; Sequence=VSP_046733; Note=Gene prediction based on EST data.; 


uniprotID: O15360
geneSymbol: FANCA
reactome: R-HSA-6783310;
name: Fanconi anemia group A protein (Protein FACA)
length: 1455
go: ENSG00000187741;
sequence:

opentargets:
cytoplasm [GO:0005737]; Fanconi anaemia nuclear complex [GO:0043240]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA repair [GO:0006281]; female gonad development [GO:0008585]; interstrand cross-link repair [GO:0036297]; male gonad development [GO:0008584]; male meiotic nuclear division [GO:0007140]; protein-containing complex assembly [GO:0065003]; regulation of CD40 signaling pathway [GO:2000348]; regulation of cell proliferation [GO:0042127]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of inflammatory response [GO:0050727]; regulation of regulatory T cell differentiation [GO:0045589]

snps:
rs1800282 rs76275444 rs34491278 rs35566151 rs17232246 rs17225943 rs7190823 rs35880318 rs13336566 rs11646374 rs148473140 rs2239359 rs17232910 rs1131660 rs45441106 rs7195066 rs374030577 rs17233141 rs780825099 rs755922289 rs755546887 rs753063086 rs17233497 rs149277003 rs1439817346 rs574034197 rs753316789 rs17227354 rs878853665 rs182657062 rs9282681 rs17227396 rs149851163 rs17227403 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15360-1; Sequence=Displayed; Name=2; IsoId=O15360-2; Sequence=VSP_007039; Note=No experimental confirmation available.; Name=3; IsoId=O15360-3; Sequence=VSP_054682; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.


uniprotID: Q96CD0
geneSymbol: FBXL8
reactome: R-HSA-8951664;R-HSA-983168;
name: F-box/LRR-repeat protein 8 (F-box and leucine-rich repeat protein 8) (F-box protein FBL8)
length: 374
go: ENSG00000135722;
sequence:

opentargets:
cytosol [GO:0005829]; SCF ubiquitin ligase complex [GO:0019005]; ubiquitin-protein transferase activity [GO:0004842]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]


uniprotID: A6NFH5
geneSymbol: FABP12
reactome: R-HSA-163560;
name: Fatty acid-binding protein 12
length: 140
go: ENSG00000197416;
opentargets: cytosol [GO:0005829]; lipid binding [GO:0008289]; triglyceride catabolic process [GO:0019433]
sequence:
MIDQLQGTWKSISCENSEDYMKELGIGRASRKLGRLAKPTVTISTDGDVITIKTKSIFKNNEISFKLGEEFEEITPGGHKTKSKVTLDKESLIQVQDWDGKETTITRKLVDGKMVVESTVNSVICTRTYEKVSSNSVSNS


uniprotID: P22087
geneSymbol: FBL
reactome: R-HSA-6790901;R-HSA-6791226;
pdb: 2IPX;
length: 321
go: ENSG00000105202;
name:
rRNA 2'-O-methyltransferase fibrillarin (EC 2.1.1.-) (34 kDa nucleolar scleroderma antigen) (Histone-glutamine methyltransferase)

sequence:

opentargets:
box C/D snoRNP complex [GO:0031428]; Cajal body [GO:0015030]; chromosome [GO:0005694]; dense fibrillar component [GO:0001651]; extracellular exosome [GO:0070062]; fibrillar center [GO:0001650]; granular component [GO:0001652]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small-subunit processome [GO:0032040]; ATPase binding [GO:0051117]; histone-glutamine methyltransferase activity [GO:1990259]; RNA binding [GO:0003723]; rRNA methyltransferase activity [GO:0008649]; TFIID-class transcription factor complex binding [GO:0001094]; box C/D snoRNA 3'-end processing [GO:0000494]; histone glutamine methylation [GO:1990258]; osteoblast differentiation [GO:0001649]; rRNA methylation [GO:0031167]; rRNA processing [GO:0006364]; snoRNA localization [GO:0048254]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:14583623, ECO:0000269|PubMed:19208757, ECO:0000269|PubMed:2026646, ECO:0000269|PubMed:2414294, ECO:0000269|PubMed:24352239}. Note=Fibrillar region of the nucleolus.


uniprotID: Q12805
geneSymbol: EFEMP1
reactome: R-HSA-2129379;
length: 493
go: ENSG00000115380;
snps: rs748965004 rs121434491
name:
EGF-containing fibulin-like extracellular matrix protein 1 (Extracellular protein S1-5) (Fibrillin-like protein) (Fibulin-3) (FIBL-3)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; epidermal growth factor receptor binding [GO:0005154]; epidermal growth factor-activated receptor activity [GO:0005006]; extracellular matrix structural constituent [GO:0005201]; growth factor activity [GO:0008083]; camera-type eye development [GO:0043010]; embryonic eye morphogenesis [GO:0048048]; epidermal growth factor receptor signaling pathway [GO:0007173]; negative regulation of chondrocyte differentiation [GO:0032331]; peptidyl-tyrosine phosphorylation [GO:0018108]; post-embryonic eye morphogenesis [GO:0048050]; regulation of transcription, DNA-templated [GO:0006355]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q12805-1; Sequence=Displayed; Name=2; IsoId=Q12805-2; Sequence=VSP_001392; Name=3; IsoId=Q12805-3; Sequence=VSP_001393; Name=4; IsoId=Q12805-4; Sequence=VSP_001394; Name=5; IsoId=Q12805-5; Sequence=VSP_054372, VSP_054373; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000250}. Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Localizes to the lamina propria underneath the olfactory epithelium. {ECO:0000250}.


uniprotID: Q5T1M5
geneSymbol: FKBP15
length: 1219
go: ENSG00000119321;
snps: rs1133618 rs10435864 rs10465129 rs1128116 rs57348436
name:
FK506-binding protein 15 (FKBP-15) (133 kDa FK506-binding protein) (133 kDa FKBP) (FKBP-133) (WASP- and FKBP-like protein) (WAFL)

sequence:

opentargets:
actin filament [GO:0005884]; early endosome [GO:0005769]; growth cone [GO:0030426]; membrane [GO:0016020]; actin binding [GO:0003779]; endocytosis [GO:0006897]; negative regulation of phosphatase activity [GO:0010923]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T1M5-1; Sequence=Displayed; Name=2; IsoId=Q5T1M5-2; Sequence=VSP_027758; Note=No experimental confirmation available.; Name=3; IsoId=Q5T1M5-3; Sequence=VSP_027756, VSP_027757; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q6P9Q6}. Cell projection, axon {ECO:0000250|UniProtKB:Q6P9Q6}. Early endosome {ECO:0000269|PubMed:19121306}. Note=Present in axons and neuronal growth cones. {ECO:0000250|UniProtKB:Q6P9Q6}.


uniprotID: Q9BTV5
geneSymbol: FSD1
length: 496
go: ENSG00000105255;
snps: rs35139245
name:
Fibronectin type III and SPRY domain-containing protein 1 (MID1-related protein 1) (Microtubule-associated protein GLFND)

sequence:

opentargets:
centrosome [GO:0005813]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; microtubule [GO:0005874]; nucleus [GO:0005634]; microtubule binding [GO:0008017]; protein homodimerization activity [GO:0042803]; cell cycle [GO:0007049]; cell division [GO:0051301]; cytoplasmic microtubule organization [GO:0031122]; protein homooligomerization [GO:0051260]; regulation of cell division [GO:0051302]; regulation of cytokinesis [GO:0032465]; regulation of mitotic spindle organization [GO:0060236]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cytoplasm. Cleavage furrow. Note=Cell-cycle-dependent association with the centrosome. Colocalizes with a subpopulation of microtubules. Does not associates with microtubules during mitosis but reassociates with microtubules during cytokinesis. Localizes to the central portions of a small subset of microtubules in interphase cells and a subpopulation of microtubules in the cleavage furrow, not present in the mitotic spindle.


uniprotID: Q9H461
geneSymbol: FZD8
reactome: R-HSA-373080;R-HSA-4608870;R-HSA-4641263;R-HSA-5340588;
pdb: 5UN5;5UN6;
name: Frizzled-8 (Fz-8) (hFz8)
length: 694
go: ENSG00000177283;
sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; Wnt-Frizzled-LRP5/6 complex [GO:1990851]; G protein-coupled receptor activity [GO:0004930]; PDZ domain binding [GO:0030165]; signaling receptor binding [GO:0005102]; ubiquitin protein ligase binding [GO:0031625]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; angiogenesis [GO:0001525]; canonical Wnt signaling pathway [GO:0060070]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron differentiation [GO:0030182]; non-canonical Wnt signaling pathway [GO:0035567]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of transcription by RNA polymerase II [GO:0045944]; T cell differentiation in thymus [GO:0033077]

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Golgi apparatus {ECO:0000250}. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Colocalizes with GOPC at the Golgi apparatus. {ECO:0000250}.


uniprotID: P16520
geneSymbol: GNB3
name: Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 (Transducin beta chain 3)
length: 340
go: ENSG00000111664;
snps: rs45569331 rs140263599 rs2234756 rs45616032 rs5442 rs28395776 rs28395775 rs5444
reactome:
R-HSA-1296041;R-HSA-163359;R-HSA-202040;R-HSA-381676;R-HSA-381771;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;R-HSA-997272;

sequence:

opentargets:
cell body [GO:0044297]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; GTPase activity [GO:0003924]; GTPase binding [GO:0051020]; spectrin binding [GO:0030507]; cell volume homeostasis [GO:0006884]; G protein-coupled receptor signaling pathway [GO:0007186]; protein folding [GO:0006457]; regulation of blood pressure [GO:0008217]; regulation of cholesterol metabolic process [GO:0090181]; regulation of fat cell differentiation [GO:0045598]; regulation of gene expression [GO:0010468]; regulation of glucose metabolic process [GO:0010906]; regulation of hormone metabolic process [GO:0032350]; regulation of phospholipid metabolic process [GO:1903725]; regulation of triglyceride metabolic process [GO:0090207]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P16520-1; Sequence=Displayed; Name=2; IsoId=P16520-2; Sequence=VSP_055233; Note=No experimental confirmation available.; 


uniprotID: P47211
geneSymbol: GALR1
reactome: R-HSA-375276;R-HSA-418594;
name: Galanin receptor type 1 (GAL1-R) (GALR-1)
length: 349
go: ENSG00000166573;
snps: rs1143093 rs5376 rs5377
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; galanin receptor activity [GO:0004966]; neuropeptide binding [GO:0042923]; peptide hormone binding [GO:0017046]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of adenylate cyclase activity [GO:0007194]; neuropeptide signaling pathway [GO:0007218]; positive regulation of cortisol secretion [GO:0051464]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: P80404
geneSymbol: ABAT
reactome: R-HSA-916853;
length: 500
go: ENSG00000183044;
drug: DB01699;DB04235;DB00160;DB00142;DB00780;DB00114;DB00119;DB00313;DB01080;
snps: rs1731017 rs121434578
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
4-aminobutyrate aminotransferase, mitochondrial (EC 2.6.1.19) ((S)-3-amino-2-methylpropionate transaminase) (EC 2.6.1.22) (GABA aminotransferase) (GABA-AT) (Gamma-amino-N-butyrate transaminase) (GABA transaminase) (GABA-T) (L-AIBAT)

sequence:

opentargets:
4-aminobutyrate transaminase complex [GO:0032144]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; (S)-3-amino-2-methylpropionate transaminase activity [GO:0047298]; 4-aminobutyrate transaminase activity [GO:0003867]; 4-aminobutyrate:2-oxoglutarate transaminase activity [GO:0034386]; iron-sulfur cluster binding [GO:0051536]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; succinate-semialdehyde dehydrogenase binding [GO:0032145]; aging [GO:0007568]; behavioral response to cocaine [GO:0048148]; cerebellum development [GO:0021549]; copulation [GO:0007620]; exploration behavior [GO:0035640]; gamma-aminobutyric acid biosynthetic process [GO:0009449]; gamma-aminobutyric acid catabolic process [GO:0009450]; locomotory behavior [GO:0007626]; negative regulation of blood pressure [GO:0045776]; negative regulation of dopamine secretion [GO:0033602]; negative regulation of gamma-aminobutyric acid secretion [GO:0014053]; negative regulation of platelet aggregation [GO:0090331]; neurotransmitter catabolic process [GO:0042135]; positive regulation of aspartate secretion [GO:1904450]; positive regulation of dopamine metabolic process [GO:0045964]; positive regulation of heat generation [GO:0031652]; positive regulation of inhibitory postsynaptic potential [GO:0097151]; positive regulation of insulin secretion [GO:0032024]; positive regulation of prolactin secretion [GO:1902722]; positive regulation of uterine smooth muscle contraction [GO:0070474]; response to ethanol [GO:0045471]; response to hypoxia [GO:0001666]; response to iron ion [GO:0010039]; response to nicotine [GO:0035094]


uniprotID: P18507
geneSymbol: GABRG2
reactome: R-HSA-112314;R-HSA-977441;
pdb: 6D6U;
name: Gamma-aminobutyric acid receptor subunit gamma-2 (GABA(A) receptor subunit gamma-2)
length: 467
go: ENSG00000113327;
snps: rs112894280 rs121909673 rs587777365 rs267606837 rs397514737 rs121909672 rs17855003
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; chloride channel complex [GO:0034707]; cytoplasmic vesicle membrane [GO:0030659]; dendrite membrane [GO:0032590]; GABA-A receptor complex [GO:1902711]; GABA-ergic synapse [GO:0098982]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; postsynaptic membrane [GO:0045211]; 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]; adult behavior [GO:0030534]; cellular response to histamine [GO:0071420]; 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]; post-embryonic development [GO:0009791]; 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;DB00543;DB01558;DB00237;DB00241;DB00475;DB01594;DB00349;DB01068;DB00628;DB01559;DB01189;DB00829;DB00228;DB01049;DB01215;DB00402;DB00189;DB00292;DB01567;DB01205;DB00690;DB01381;DB01437;DB00801;DB01159;DB00753;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=3;  Name=1; IsoId=P18507-1; Sequence=Displayed; Name=2; IsoId=P18507-2; Sequence=VSP_041124; Name=3; IsoId=P18507-3; Sequence=VSP_047323, VSP_041124; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000269|PubMed:2538761}; Multi-pass membrane protein {ECO:0000269|PubMed:2538761}. Cell membrane {ECO:0000269|PubMed:2538761}; Multi-pass membrane protein {ECO:0000269|PubMed:2538761}. Cell projection, dendrite {ECO:0000250|UniProtKB:P22723}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P18508}.


uniprotID: Q4VC44
geneSymbol: FLYWCH1
pdb: 2RPR;
name: FLYWCH-type zinc finger-containing protein 1
length: 716
go: ENSG00000059122;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q4VC44-1; Sequence=Displayed; Name=2; IsoId=Q4VC44-2; Sequence=VSP_030279; Name=3; IsoId=Q4VC44-3; Sequence=VSP_030281; Name=4; IsoId=Q4VC44-4; Sequence=VSP_030278; Name=5; IsoId=Q4VC44-5; Sequence=VSP_030277, VSP_030280; 


uniprotID: P51570
geneSymbol: GALK1
reactome: R-HSA-5609976;R-HSA-70370;
pdb: 1WUU;1YH7;
name: Galactokinase (EC 2.7.1.6) (Galactose kinase)
length: 392
go: ENSG00000108479;
drug: DB04395;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; ATP binding [GO:0005524]; galactokinase activity [GO:0004335]; galactose binding [GO:0005534]; galactitol metabolic process [GO:0019402]; galactose catabolic process [GO:0019388]; galactose catabolic process via UDP-galactose [GO:0033499]; galactose metabolic process [GO:0006012]; glycolytic process from galactose [GO:0061623]

snps:
rs104894572 rs104894576 rs773416476 rs80084721 rs575139300 rs959842362 rs759284637 rs375690568 rs754967473 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51570-1; Sequence=Displayed; Name=2; IsoId=P51570-2; Sequence=VSP_055079; Note=No experimental confirmation available.; 


uniprotID: O00144
geneSymbol: FZD9
reactome: R-HSA-373080;
name: Frizzled-9 (Fz-9) (hFz9) (FzE6) (CD antigen CD349)
length: 591
go: ENSG00000188763;
sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; filopodium membrane [GO:0031527]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; G protein-coupled receptor activity [GO:0004930]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; B cell differentiation [GO:0030183]; bone regeneration [GO:1990523]; canonical Wnt signaling pathway [GO:0060070]; learning or memory [GO:0007611]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of mitochondrial depolarization [GO:0051902]; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901029]; negative regulation of necroptotic process [GO:0060546]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of skeletal muscle acetylcholine-gated channel clustering [GO:1904394]; nervous system development [GO:0007399]; neuroblast proliferation [GO:0007405]; non-canonical Wnt signaling pathway [GO:0035567]; ossification [GO:0001503]; positive regulation of apoptotic process [GO:0043065]; positive regulation of bone mineralization [GO:0030501]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of neural precursor cell proliferation [GO:2000179]; postsynapse organization [GO:0099173]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of postsynaptic cytosolic calcium ion concentration [GO:0099566]; regulation of skeletal muscle acetylcholine-gated channel clustering [GO:1904393]; release of cytochrome c from mitochondria [GO:0001836]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9R216}; Multi-pass membrane protein {ECO:0000255}. Note=Relocalizes DVL1 to the cell membrane leading to phosphorylation of DVL1 and AXIN1 relocalization to the cell membrane. {ECO:0000250|UniProtKB:Q8K4C8}.


uniprotID: P47869
geneSymbol: GABRA2
reactome: R-HSA-112314;R-HSA-977441;
name: Gamma-aminobutyric acid receptor subunit alpha-2 (GABA(A) receptor subunit alpha-2)
length: 451
go: ENSG00000151834;
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]; integral component of synaptic vesicle membrane [GO:0030285]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; postsynaptic membrane [GO:0045211]; 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]; neurotransmitter transport [GO:0006836]; regulation of membrane potential [GO:0042391]; regulation of neurotransmitter levels [GO:0001505]; 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;DB01346;DB00418;DB01236;DB00306;DB00231;DB11582;DB00599;DB00273;DB00897;DB00425;DB01198;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P47869-1; Sequence=Displayed; Name=2; IsoId=P47869-2; Sequence=VSP_054277, VSP_054278; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:P26048}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000250|UniProtKB:P26048}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P23576}. Cell projection, dendrite {ECO:0000250|UniProtKB:P26048}.


uniprotID: Q8TED4
geneSymbol: SLC37A2
reactome: R-HSA-70263;
name: Glucose-6-phosphate exchanger SLC37A2 (Solute carrier family 37 member 2)
length: 501
go: ENSG00000134955;
snps: rs55752830 rs34485243
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of endoplasmic reticulum membrane [GO:0030176]; glucose 6-phosphate:inorganic phosphate antiporter activity [GO:0061513]; carbohydrate transport [GO:0008643]; glucose-6-phosphate transport [GO:0015760]; phosphate ion transmembrane transport [GO:0035435]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TED4-1; Sequence=Displayed; Name=2; IsoId=Q8TED4-2; Sequence=VSP_028963; Name=3; IsoId=Q8TED4-3; Sequence=VSP_028961, VSP_028962; Note=No experimental confirmation available.; Name=4; IsoId=Q8TED4-4; Sequence=VSP_028960; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21949678}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P54803
geneSymbol: GALC
reactome: R-HSA-1660662;
length: 685
go: ENSG00000054983;
location: SUBCELLULAR LOCATION: Lysosome.
name:
Galactocerebrosidase (GALCERase) (EC 3.2.1.46) (Galactocerebroside beta-galactosidase) (Galactosylceramidase) (Galactosylceramide beta-galactosidase)

sequence:

opentargets:
lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; galactosylceramidase activity [GO:0004336]; galactosylceramide catabolic process [GO:0006683]; glycosphingolipid metabolic process [GO:0006687]

snps:
rs111887056 rs387906955 rs370117160 rs746487628 rs756690487 rs147313927 rs374635469 rs1805078 rs997021099 rs963756824 rs34362748 rs886039569 rs377274761 rs199847983 rs746922378 rs756352952 rs74887188 rs1057516642 rs387906954 rs757407613 rs770485731 rs34134328 rs202135871 rs375867319 rs200960659 rs749893889 rs200378205 rs387906952 rs748573754 rs398607 rs752537626 rs387906953 rs138577661 rs421262 rs780593419 rs200607029 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P54803-1; Sequence=Displayed; Name=3; IsoId=P54803-3; Sequence=VSP_036976; Note=No experimental confirmation available.; Name=4; IsoId=P54803-4; Sequence=VSP_036974; Name=5; IsoId=P54803-5; Sequence=VSP_036975, VSP_036977; Note=No experimental confirmation available.; 


uniprotID: Q99928
geneSymbol: GABRG3
reactome: R-HSA-112314;R-HSA-977441;
name: Gamma-aminobutyric acid receptor subunit gamma-3 (GABA(A) receptor subunit gamma-3)
length: 467
go: ENSG00000182256;
snps: rs2066712
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 synaptic membrane [GO:0099699]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; 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]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; regulation of postsynaptic membrane potential [GO:0060078]; response to drug [GO:0042493]; signal transduction [GO:0007165]; synaptic transmission, GABAergic [GO:0051932]

drug:
DB00659;DB00546;DB06579;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;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=Q99928-1; Sequence=Displayed; Name=2; IsoId=Q99928-2; Sequence=VSP_047543, VSP_047544; Note=No experimental confirmation available.; 


uniprotID: Q01415
geneSymbol: GALK2
pdb: 2A2C;2A2D;
name: N-acetylgalactosamine kinase (EC 2.7.1.157) (GalNAc kinase) (Galactokinase 2)
length: 458
go: ENSG00000156958;
snps: rs35507772
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; galactokinase activity [GO:0004335]; galactose binding [GO:0005534]; N-acetylgalactosamine kinase activity [GO:0033858]; carbohydrate metabolic process [GO:0005975]; galactose catabolic process via UDP-galactose [GO:0033499]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q01415-1; Sequence=Displayed; Name=2; IsoId=Q01415-2; Sequence=VSP_042897; 


uniprotID: Q8TAK5
geneSymbol: GABPB2
name: GA-binding protein subunit beta-2 (GABP subunit beta-2) (GABPB-2)
length: 448
go: ENSG00000143458;
snps: rs11204774
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; transcription regulatory region DNA binding [GO:0044212]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q96PP9
geneSymbol: GBP4
reactome: R-HSA-877300;
length: 640
go: ENSG00000162654;
snps: rs17130745 rs1831240 rs655260 rs1142886 rs1142889 rs1142888 rs1142890 rs608339 rs561042 rs561037
name:
Guanylate-binding protein 4 (EC 3.6.5.-) (GTP-binding protein 4) (GBP-4) (Guanine nucleotide-binding protein 4)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein homodimerization activity [GO:0042803]; cellular response to interferon-gamma [GO:0071346]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17266443}. Nucleus {ECO:0000269|PubMed:17266443}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:21151871}. Golgi apparatus membrane {ECO:0000269|PubMed:21151871}. Note=Heterodimers with GBP1, GBP2 and GBP5 localize in the compartment of the prenylated GBPs: with GBP1 in a vesicle-like compartment, with GBP2, around the nucleus and with GBP-5, at the Golgi apparatus. {ECO:0000269|PubMed:21151871}.


uniprotID: Q9NY28
geneSymbol: GALNT8
reactome: R-HSA-913709;
length: 637
go: ENSG00000130035;
name:
Probable polypeptide N-acetylgalactosaminyltransferase 8 (EC 2.4.1.41) (Polypeptide GalNAc transferase 8) (GalNAc-T8) (pp-GaNTase 8) (Protein-UDP acetylgalactosaminyltransferase 8) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; polypeptide N-acetylgalactosaminyltransferase activity [GO:0004653]; O-glycan processing [GO:0016266]

snps:
rs10849133 rs10849133 rs16931676 rs34776842 rs34829532 rs199920896 rs559663039 rs1468556 rs34114277 rs16931692 


uniprotID: Q8N8V2
geneSymbol: GBP7
reactome: R-HSA-877300;
length: 638
go: ENSG00000213512;
opentargets: membrane [GO:0016020]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]
snps: rs676913 rs1886297
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}.
name:
Guanylate-binding protein 7 (GTP-binding protein 7) (GBP-7) (Guanine nucleotide-binding protein 7) (Guanylate-binding protein 4-like)

sequence:


uniprotID: A8MPY1
geneSymbol: GABRR3
reactome: R-HSA-977442;
name: Gamma-aminobutyric acid receptor subunit rho-3 (GABA(A) receptor subunit rho-3) (GABA(C) receptor)
length: 467
go: ENSG00000183185;
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; GABA-A receptor complex [GO:1902711]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; chloride channel activity [GO:0005254]; extracellular ligand-gated ion channel activity [GO:0005230]; GABA-A receptor activity [GO:0004890]; protein domain specific binding [GO:0019904]; chemical synaptic transmission [GO:0007268]; gamma-aminobutyric acid signaling pathway [GO:0007214]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; signal transduction [GO:0007165]

drug:
DB00546;DB01558;DB01594;DB01559;DB00829;DB01215;DB01567;DB00690;DB00801;DB00683;DB01595;DB00842;DB01588;DB01589;DB00231;DB00897;

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: P06744
geneSymbol: GPI
reactome: R-HSA-5628897;R-HSA-6798695;R-HSA-70171;R-HSA-70263;
pdb: 1IAT;1IRI;1JIQ;1JLH;1NUH;
length: 558
go: ENSG00000105220;
drug: DB02093;DB03042;DB02076;DB02007;DB02548;DB03937;DB04493;DB03581;
name:
Glucose-6-phosphate isomerase (GPI) (EC 5.3.1.9) (Autocrine motility factor) (AMF) (Neuroleukin) (NLK) (Phosphoglucose isomerase) (PGI) (Phosphohexose isomerase) (PHI) (Sperm antigen 36) (SA-36)

sequence:

opentargets:
ciliary membrane [GO:0060170]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; myelin sheath [GO:0043209]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; secretory granule lumen [GO:0034774]; cytokine activity [GO:0005125]; glucose-6-phosphate isomerase activity [GO:0004347]; growth factor activity [GO:0008083]; intramolecular transferase activity [GO:0016866]; monosaccharide binding [GO:0048029]; ubiquitin protein ligase binding [GO:0031625]; aldehyde catabolic process [GO:0046185]; canonical glycolysis [GO:0061621]; carbohydrate metabolic process [GO:0005975]; erythrocyte homeostasis [GO:0034101]; gluconeogenesis [GO:0006094]; glucose 6-phosphate metabolic process [GO:0051156]; glucose homeostasis [GO:0042593]; glycolytic process [GO:0006096]; hemostasis [GO:0007599]; humoral immune response [GO:0006959]; in utero embryonic development [GO:0001701]; learning or memory [GO:0007611]; mesoderm formation [GO:0001707]; methylglyoxal biosynthetic process [GO:0019242]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of neuron apoptotic process [GO:0043524]; neutrophil degranulation [GO:0043312]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of immunoglobulin secretion [GO:0051024]; response to cadmium ion [GO:0046686]; response to estradiol [GO:0032355]; response to immobilization stress [GO:0035902]; response to morphine [GO:0043278]; response to muscle stretch [GO:0035994]; response to progesterone [GO:0032570]; response to testosterone [GO:0033574]

snps:
rs267606852 rs137853586 rs983725326 rs757341382 rs137853582 rs8191371 rs61754634 rs34306618 rs2230294 rs137853587 rs267606851 rs758132799 rs137853583 rs267606853 rs139382538 rs148811525 rs374583873 rs900848255 rs137853584 rs137853585 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P06744-1; Sequence=Displayed; Name=2; IsoId=P06744-2; Sequence=VSP_043475, VSP_043476; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11437381}. Secreted {ECO:0000269|PubMed:11437381}.


uniprotID: Q96RT7
geneSymbol: TUBGCP6
reactome: R-HSA-380270;R-HSA-380320;
name: Gamma-tubulin complex component 6 (GCP-6)
length: 1819
go: ENSG00000128159;
snps: rs8137873 rs4838865 rs35573482 rs34455105 rs17248287 rs5771107 rs11703226 rs4838864
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; equatorial microtubule organizing center [GO:0000923]; gamma-tubulin complex [GO:0000930]; gamma-tubulin ring complex [GO:0008274]; gamma-tubulin small complex [GO:0008275]; membrane [GO:0016020]; microtubule [GO:0005874]; spindle pole [GO:0000922]; spindle pole body [GO:0005816]; gamma-tubulin binding [GO:0043015]; microtubule binding [GO:0008017]; structural constituent of cytoskeleton [GO:0005200]; cytoplasmic microtubule organization [GO:0031122]; meiotic cell cycle [GO:0051321]; microtubule nucleation [GO:0007020]; microtubule nucleation by interphase microtubule organizing center [GO:0051415]; mitotic spindle assembly [GO:0090307]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96RT7-1; Sequence=Displayed; Name=2; IsoId=Q96RT7-2; Sequence=VSP_001624; Note=No experimental confirmation available.; Name=3; IsoId=Q96RT7-3; Sequence=VSP_017208, VSP_017209; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:11694571, ECO:0000269|PubMed:14654843}.


uniprotID: Q9NY12
geneSymbol: GAR1
reactome: R-HSA-6790901;
length: 217
go: ENSG00000109534;
name:
H/ACA ribonucleoprotein complex subunit 1 (Nucleolar protein family A member 1) (snoRNP protein GAR1)

sequence:

opentargets:
box H/ACA scaRNP complex [GO:0072589]; box H/ACA snoRNP complex [GO:0031429]; box H/ACA telomerase RNP complex [GO:0090661]; fibrillar center [GO:0001650]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; telomerase holoenzyme complex [GO:0005697]; box H/ACA snoRNA binding [GO:0034513]; RNA binding [GO:0003723]; telomerase RNA binding [GO:0070034]; snoRNA guided rRNA pseudouridine synthesis [GO:0000454]; telomere maintenance via telomerase [GO:0007004]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NY12-1; Sequence=Displayed; Name=2; IsoId=Q9NY12-2; Sequence=VSP_014594; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies).


uniprotID: P62879
geneSymbol: GNB2
length: 340
go: ENSG00000172354;
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:16498633}.
name:
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 (G protein subunit beta-2) (Transducin beta chain 2)

sequence:

opentargets:
cell body [GO:0044297]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; myelin sheath [GO:0043209]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; vesicle [GO:0031982]; calcium channel regulator activity [GO:0005246]; GTPase activity [GO:0003924]; GTPase binding [GO:0051020]; protein-containing complex binding [GO:0044877]; G protein-coupled receptor signaling pathway [GO:0007186]; protein folding [GO:0006457]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P62879-1; Sequence=Displayed; Name=2; IsoId=P62879-2; Sequence=VSP_056515; Note=No experimental confirmation available.; 


uniprotID: Q8N6F7
geneSymbol: GCSAM
length: 178
go: ENSG00000174500;
name:
Germinal center-associated signaling and motility protein (Germinal center B-cell-expressed transcript 2 protein) (Germinal center-associated lymphoma protein) (hGAL)

sequence:
MGNSLLRENRRQQNTQEMPWNVRMQSPKQRTSRCWDHHIAEGCFCLPWKKILIFEKRQDSQNENERMSSTPIQDNVDQTYSEELCYTLINHRVLCTRPSGNSAEEYYENVPCKAERPRESLGGTETEYSLLHMPSTDPRHARSPEDEYELLMPHRISSHFLQQPRPLMAPSETQFSHL

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; myosin II binding [GO:0045159]; protein kinase binding [GO:0019901]; negative regulation of lymphocyte migration [GO:2000402]; regulation of B cell receptor signaling pathway [GO:0050855]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N6F7-1; Sequence=Displayed; Name=2; IsoId=Q8N6F7-2; Sequence=VSP_046085; Note=No experimental confirmation available.; Name=3; IsoId=Q8N6F7-3; Sequence=VSP_046984; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Note=It relocalizes from the cytoplasm to podosome-like structures upon cell treatment with IL6.


uniprotID: P50150
geneSymbol: GNG4
name: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4
sequence: MKEGMSNNSTTSISQARKAVEQLKMEACMDRVKVSQAAADLLAYCEAHVREDPLIIPVPASENPFREKKFFCTIL
length: 75
go: ENSG00000168243;
opentargets:
extracellular exosome [GO:0070062]; heterotrimeric G-protein complex [GO:0005834]; plasma membrane [GO:0005886]; G-protein beta-subunit binding [GO:0031681]; GTPase activity [GO:0003924]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of cell growth [GO:0030308]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]


uniprotID: O95479
geneSymbol: H6PD
length: 791
go: ENSG00000049239;
drug: DB00157;
snps: rs34603401 rs35525021 rs6688832 rs35404275 rs17368528
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen. Note=Microsomes, endoplasmic reticulum lumen.
name:
GDH/6PGL endoplasmic bifunctional protein [Includes: Glucose 1-dehydrogenase (EC 1.1.1.47) (Glucose-6-phosphate dehydrogenase) (EC 1.1.1.363); 6-phosphogluconolactonase (6PGL) (EC 3.1.1.31)]

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; 6-phosphogluconolactonase activity [GO:0017057]; glucose 1-dehydrogenase [NAD(P)] activity [GO:0047936]; glucose-6-phosphate dehydrogenase activity [GO:0004345]; NADP binding [GO:0050661]; glucose metabolic process [GO:0006006]; pentose-phosphate shunt [GO:0006098]


uniprotID: P43694
geneSymbol: GATA4
reactome: R-HSA-2032785;R-HSA-400511;R-HSA-5578768;R-HSA-983231;
pdb: 2M9W;
name: Transcription factor GATA-4 (GATA-binding factor 4)
length: 442
go: ENSG00000136574;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21220346, ECO:0000269|PubMed:24000169}.
sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; activating transcription factor binding [GO:0033613]; co-SMAD binding [GO:0070410]; DNA binding [GO:0003677]; 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]; enhancer sequence-specific DNA binding [GO:0001158]; NFAT protein binding [GO:0051525]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; RNA polymerase II transcription factor binding [GO:0001085]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; anatomical structure formation involved in morphogenesis [GO:0048646]; animal organ morphogenesis [GO:0009887]; aortic valve morphogenesis [GO:0003180]; atrial septum morphogenesis [GO:0060413]; atrial septum primum morphogenesis [GO:0003289]; atrial septum secundum morphogenesis [GO:0003290]; blood coagulation [GO:0007596]; cardiac right ventricle morphogenesis [GO:0003215]; cardiac ventricle morphogenesis [GO:0003208]; cell development [GO:0048468]; cell growth involved in cardiac muscle cell development [GO:0061049]; cell-cell signaling [GO:0007267]; cellular response to glucose stimulus [GO:0071333]; embryonic foregut morphogenesis [GO:0048617]; embryonic heart tube anterior/posterior pattern specification [GO:0035054]; endocardial cushion development [GO:0003197]; endoderm development [GO:0007492]; heart development [GO:0007507]; heart looping [GO:0001947]; intestinal epithelial cell differentiation [GO:0060575]; male gonad development [GO:0008584]; negative regulation of autophagy [GO:0010507]; positive regulation of angiogenesis [GO:0045766]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of cardioblast differentiation [GO:0051891]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular endothelial growth factor production [GO:0010575]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of transcription, DNA-templated [GO:0006355]; response to drug [GO:0042493]; response to mechanical stimulus [GO:0009612]; response to vitamin A [GO:0033189]; tissue development [GO:0009888]; transcription by RNA polymerase II [GO:0006366]; transdifferentiation [GO:0060290]; ventricular septum development [GO:0003281]

snps:
rs199922907 rs1139241 rs387906770 rs104894074 rs56191129 rs387906769 rs398122402 rs387906771 rs104894073 rs104894073 rs104894073 rs387906772 rs56298569 rs115372595 rs368489876 rs3729856 rs777778466 rs115099192 rs55633527 rs56208331 rs146017816 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43694-1; Sequence=Displayed; Name=2; IsoId=P43694-2; Sequence=VSP_055082; Note=No experimental confirmation available.; 


uniprotID: O60318
geneSymbol: MCM3AP
pdb: 4DHX;
length: 1980
go: ENSG00000160294;
name:
Germinal-center associated nuclear protein (GANP) (80 kDa MCM3-associated protein) (MCM3 acetylating protein) (MCM3AP) (EC 2.3.1.-) (MCM3 acetyltransferase)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; nucleic acid binding [GO:0003676]; transferase activity, transferring acyl groups [GO:0016746]; immune system process [GO:0002376]; mRNA transport [GO:0051028]; protein transport [GO:0015031]

snps:
rs9975588 rs17182545 rs17182552 rs773228537 rs17182566 rs483352869 rs17182850 rs17182857 rs17176709 rs17183220 rs17183248 rs17183290 rs2298697 rs17176933 rs17183403 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=GANP; IsoId=O60318-1; Sequence=Displayed; Name=MCM3AP; Synonyms=80 kDa MCM3-associated protein; IsoId=O60318-2; Sequence=VSP_053438; Note=Produced via an alternative promoter within an intron of GANP. MCM3AP promoter elements are poorly conserved in mice, suggesting that the regulation of MCM3AP may be human specific.; 

location:
SUBCELLULAR LOCATION: Isoform GANP: Cytoplasm. Nucleus envelope. Nucleus, nuclear pore complex. Note=In B-cells nuclear import depends on interaction with AICDA/AID, and GANP is selectively targeted to the IgV-region gene. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform MCM3AP: Cytoplasm {ECO:0000269|PubMed:11258703}. Nucleus, nucleoplasm {ECO:0000269|PubMed:11258703}. Note=Binding to MCM3 is required for nuclear import, associates with chromatin.


uniprotID: P36268
geneSymbol: GGT2
length: 569
name:
Inactive glutathione hydrolase 2 (Gamma-glutamyltransferase 2) (Inactive gamma-glutamyltranspeptidase 2) (GGT 2)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; perinuclear region of cytoplasm [GO:0048471]; glutathione hydrolase activity [GO:0036374]; peptidyltransferase activity [GO:0000048]; cellular amino acid metabolic process [GO:0006520]; cysteine biosynthetic process [GO:0019344]; glutamate metabolic process [GO:0006536]; glutathione catabolic process [GO:0006751]; glutathione metabolic process [GO:0006749]; leukotriene D4 biosynthetic process [GO:1901750]; peptide modification [GO:0031179]; regulation of immune system process [GO:0002682]; regulation of inflammatory response [GO:0050727]; response to estradiol [GO:0032355]; response to lipopolysaccharide [GO:0032496]; response to tumor necrosis factor [GO:0034612]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P36268-1; Sequence=Displayed; Name=2; IsoId=P36268-2; Sequence=VSP_033757; Name=3; IsoId=P36268-3; Sequence=VSP_053716; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:23682772}. Endoplasmic reticulum {ECO:0000269|PubMed:23682772}. Note=Co-localizes with calnexin in the endoplasmic reticulum.


uniprotID: P13284
geneSymbol: IFI30
reactome: R-HSA-2132295;R-HSA-877300;
length: 250
go: ENSG00000216490;
name:
Gamma-interferon-inducible lysosomal thiol reductase (EC 1.8.-.-) (Gamma-interferon-inducible protein IP-30) (Legumaturain)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; oxidoreductase activity, acting on a sulfur group of donors [GO:0016667]; antigen processing and presentation of exogenous peptide antigen via MHC class I [GO:0042590]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; interferon-gamma-mediated signaling pathway [GO:0060333]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10639150, ECO:0000269|PubMed:3136170}. Lysosome {ECO:0000269|PubMed:10639150, ECO:0000269|PubMed:3136170}.


uniprotID: Q02108
geneSymbol: GUCY1A1
reactome: R-HSA-392154;
pdb: 3UVJ;4NI2;
length: 690
go: ENSG00000164116;
snps: rs2170646
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Guanylate cyclase soluble subunit alpha-1 (GCS-alpha-1) (EC 4.6.1.2) (Guanylate cyclase soluble subunit alpha-3) (GCS-alpha-3) (Soluble guanylate cyclase large subunit)

sequence:

opentargets:
GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; guanylate cyclase complex, soluble [GO:0008074]; GTP binding [GO:0005525]; guanylate cyclase activity [GO:0004383]; heme binding [GO:0020037]; signaling receptor activity [GO:0038023]; blood circulation [GO:0008015]; cGMP biosynthetic process [GO:0006182]; nitric oxide mediated signal transduction [GO:0007263]; positive regulation of nitric oxide mediated signal transduction [GO:0010750]; regulation of blood pressure [GO:0008217]; relaxation of vascular smooth muscle [GO:0060087]; response to defense-related host nitric oxide production [GO:0052565]; retrograde trans-synaptic signaling by nitric oxide, modulating synaptic transmission [GO:0098925]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02108-1; Sequence=Displayed; Name=2; IsoId=Q02108-2; Sequence=VSP_045477; Note=No experimental confirmation available.; 


uniprotID: Q5VSY0
geneSymbol: GKAP1
name: G kinase-anchoring protein 1 (cGMP-dependent protein kinase-anchoring protein of 42 kDa)
length: 366
go: ENSG00000165113;
location: SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250|UniProtKB:Q9JMB0}.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; identical protein binding [GO:0042802]; positive regulation of glucose import in response to insulin stimulus [GO:2001275]; positive regulation of insulin receptor signaling pathway [GO:0046628]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VSY0-1; Sequence=Displayed; Name=2; IsoId=Q5VSY0-2; Sequence=VSP_030596; 


uniprotID: Q6UWB1
geneSymbol: IL27RA
reactome: R-HSA-8984722;R-HSA-9020956;
length: 636
go: ENSG00000104998;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-27 receptor subunit alpha (IL-27 receptor subunit alpha) (IL-27R subunit alpha) (IL-27R-alpha) (IL-27RA) (Cytokine receptor WSX-1) (Cytokine receptor-like 1) (Type I T-cell cytokine receptor) (TCCR) (ZcytoR1)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; interleukin-27 receptor activity [GO:0045509]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]; defense response to Gram-positive bacterium [GO:0050830]; immune response [GO:0006955]; interleukin-27-mediated signaling pathway [GO:0070106]; interleukin-35-mediated signaling pathway [GO:0070757]; negative regulation of type 2 immune response [GO:0002829]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of T-helper 1 type immune response [GO:0002827]; regulation of isotype switching to IgG isotypes [GO:0048302]


uniprotID: Q7Z5L9
geneSymbol: IRF2BP2
name: Interferon regulatory factor 2-binding protein 2 (IRF-2-binding protein 2) (IRF-2BP2)
length: 587
go: ENSG00000168264;
snps: rs11502
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; immature B cell differentiation [GO:0002327]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=IRF-2BP2A; IsoId=Q7Z5L9-1; Sequence=Displayed; Name=2; Synonyms=IRF-2BP2B; IsoId=Q7Z5L9-2; Sequence=VSP_032770; Name=3; IsoId=Q7Z5L9-3; Sequence=VSP_032769; 


uniprotID: Q9BXS1
geneSymbol: IDI2
reactome: R-HSA-191273;
pdb: 2PNY;
length: 227
go: ENSG00000148377;
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:17202134}.
name:
Isopentenyl-diphosphate delta-isomerase 2 (EC 5.3.3.2) (Isopentenyl pyrophosphate isomerase 2) (IPP isomerase 2) (IPPI2)

sequence:

opentargets:
cytosol [GO:0005829]; peroxisome [GO:0005777]; hydrolase activity [GO:0016787]; isopentenyl-diphosphate delta-isomerase activity [GO:0004452]; metal ion binding [GO:0046872]; cholesterol biosynthetic process [GO:0006695]; dimethylallyl diphosphate biosynthetic process [GO:0050992]; isopentenyl diphosphate biosynthetic process [GO:0009240]; isopentenyl diphosphate metabolic process [GO:0046490]; isoprenoid biosynthetic process [GO:0008299]


uniprotID: Q8N428
geneSymbol: GALNT16
reactome: R-HSA-913709;
length: 558
go: ENSG00000100626;
snps: rs12879377 rs59840366
name:
Polypeptide N-acetylgalactosaminyltransferase 16 (EC 2.4.1.41) (Polypeptide GalNAc transferase 16) (GalNAc-T16) (Polypeptide GalNAc transferase-like protein 1) (GalNAc-T-like protein 1) (pp-GaNTase-like protein 1) (Polypeptide N-acetylgalactosaminyltransferase-like protein 1) (Protein-UDP acetylgalactosaminyltransferase-like protein 1) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 1)

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]; protein O-linked glycosylation via serine [GO:0018242]; protein O-linked glycosylation via threonine [GO:0018243]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N428-1; Sequence=Displayed; Name=2; IsoId=Q8N428-2; Sequence=VSP_011231; 


uniprotID: Q6P9A2
geneSymbol: GALNT18
reactome: R-HSA-913709;
length: 607
go: ENSG00000110328;
name:
Polypeptide N-acetylgalactosaminyltransferase 18 (EC 2.4.1.41) (Polypeptide GalNAc transferase 18) (GalNAc-T18) (Polypeptide GalNAc transferase-like protein 4) (GalNAc-T-like protein 4) (pp-GaNTase-like protein 4) (Polypeptide N-acetylgalactosaminyltransferase-like protein 4) (Protein-UDP acetylgalactosaminyltransferase-like protein 4) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4)

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]; protein O-linked glycosylation [GO:0006493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P9A2-1; Sequence=Displayed; Name=2; IsoId=Q6P9A2-2; Sequence=VSP_011234, VSP_011235; Note=No experimental confirmation available.; 


uniprotID: P01275
geneSymbol: GCG
reactome: R-HSA-163359;R-HSA-381676;R-HSA-381771;R-HSA-416476;R-HSA-418555;R-HSA-420092;R-HSA-422085;
pdb: 1BH0;1D0R;1NAU;2G49;2L63;2L64;2M5P;2M5Q;3IOL;4APD;4ZGM;5OTU;5OTV;5OTW;5OTX;5VAI;5YQZ;
length: 180
go: ENSG00000115263;
snps: rs5650
location: SUBCELLULAR LOCATION: Secreted.
name:
Glucagon [Cleaved into: Glicentin; Glicentin-related polypeptide (GRPP); Oxyntomodulin (OXM) (OXY); Glucagon; Glucagon-like peptide 1 (GLP-1) (Incretin hormone); Glucagon-like peptide 1(7-37) (GLP-1(7-37)); Glucagon-like peptide 1(7-36) (GLP-1(7-36)); Glucagon-like peptide 2 (GLP-2)]

sequence:
MKSIYFVAGLFVMLVQGSWQRSLQDTEEKSRSFSASQADPLSDPDQMNEDKRHSQGTFTSDYSKYLDSRRAQDFVQWLMNTKRNRNNIAKRHDEFERHAEGTFTSDVSSYLEGQAAKEFIAWLVKGRGRRDFPEEVAIVEELGRRHADGSFSDEMNTILDNLAARDFINWLIQTKITDRK

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule lumen [GO:0034774]; glucagon receptor binding [GO:0031769]; hormone activity [GO:0005179]; identical protein binding [GO:0042802]; signaling receptor binding [GO:0005102]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cell proliferation [GO:0008283]; cellular response to glucagon stimulus [GO:0071377]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of apoptotic process [GO:0043066]; negative regulation of execution phase of apoptosis [GO:1900118]; positive regulation of calcium ion import [GO:0090280]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter [GO:0035948]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of protein binding [GO:0032092]; positive regulation of protein kinase activity [GO:0045860]; protein kinase A signaling [GO:0010737]; regulation of insulin secretion [GO:0050796]; signal transduction [GO:0007165]


uniprotID: P15586
geneSymbol: GNS
reactome: R-HSA-2022857;R-HSA-2206305;R-HSA-432720;R-HSA-6798695;
name: N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) (Glucosamine-6-sulfatase) (G6S)
length: 552
go: ENSG00000135677;
location: SUBCELLULAR LOCATION: Lysosome.
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; glycosaminoglycan binding [GO:0005539]; metal ion binding [GO:0046872]; N-acetylglucosamine-6-sulfatase activity [GO:0008449]; sulfuric ester hydrolase activity [GO:0008484]; glycosaminoglycan catabolic process [GO:0006027]; keratan sulfate catabolic process [GO:0042340]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P15586-1; Sequence=Displayed; Name=2; IsoId=P15586-2; Sequence=VSP_056486; Note=No experimental confirmation available.; 


uniprotID: H3BV12
geneSymbol: GOLGA8Q
name: Golgin subfamily A member 8Q
length: 632
opentargets: Golgi apparatus [GO:0005794]
sequence:


uniprotID: I6L899
geneSymbol: GOLGA8R
name: Golgin subfamily A member 8R
length: 631
go: ENSG00000186399;
sequence:

opentargets:
cis-Golgi network [GO:0005801]; Golgi apparatus [GO:0005794]; Golgi cis cisterna [GO:0000137]; Golgi cisterna membrane [GO:0032580]; Golgi organization [GO:0007030]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:16572171}; IsoId=I6L899-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:16572171}; IsoId=I6L899-2; Sequence=VSP_044756, VSP_044757, VSP_044758; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P09471
geneSymbol: GNAO1
reactome: R-HSA-112043;R-HSA-202040;R-HSA-4086398;R-HSA-6814122;
pdb: 6G79;
name: Guanine nucleotide-binding protein G(o) subunit alpha
length: 354
go: ENSG00000087258;
sequence:

opentargets:
cell body [GO:0044297]; dendrite [GO:0030425]; heterotrimeric G-protein complex [GO:0005834]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; corticotropin-releasing hormone receptor 1 binding [GO:0051430]; G protein-coupled receptor binding [GO:0001664]; G protein-coupled serotonin receptor binding [GO:0031821]; G-protein beta/gamma-subunit complex binding [GO:0031683]; GTP binding [GO:0005525]; GTPase activating protein binding [GO:0032794]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; mu-type opioid receptor binding [GO:0031852]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; aging [GO:0007568]; dopamine receptor signaling pathway [GO:0007212]; forebrain development [GO:0030900]; locomotory behavior [GO:0007626]; muscle contraction [GO:0006936]; negative regulation of calcium ion transport [GO:0051926]; neuron projection development [GO:0031175]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of GTPase activity [GO:0043547]; protein folding [GO:0006457]; regulation of heart contraction [GO:0008016]; response to cytokine [GO:0034097]; response to hydrogen peroxide [GO:0042542]; response to morphine [GO:0043278]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

snps:
rs886041715 rs587777055 rs587777057 rs886039494 rs797044878 rs797045599 rs1114167431 rs797044951 rs587777054 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Alpha-1; IsoId=P09471-1; Sequence=Displayed; Name=Alpha-2; IsoId=P09471-2, P29777-1; Sequence=VSP_031250; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P18872}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: Q08379
geneSymbol: GOLGA2
reactome: R-HSA-162658;R-HSA-204005;R-HSA-6807878;R-HSA-8862803;
pdb: 4REY;
length: 1002
go: ENSG00000167110;
snps: rs2240961
name:
Golgin subfamily A member 2 (130 kDa cis-Golgi matrix protein) (GM130) (GM130 autoantigen) (Golgin-95)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; Golgi apparatus [GO:0005794]; Golgi cis cisterna [GO:0000137]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; microtubule [GO:0005874]; mitotic spindle [GO:0072686]; spindle pole [GO:0000922]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; importin-alpha family protein binding [GO:0061676]; microtubule binding [GO:0008017]; protein kinase binding [GO:0019901]; syntaxin binding [GO:0019905]; asymmetric cell division [GO:0008356]; centrosome cycle [GO:0007098]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi disassembly [GO:0090166]; Golgi organization [GO:0007030]; Golgi ribbon formation [GO:0090161]; microtubule nucleation [GO:0007020]; mitotic spindle assembly [GO:0090307]; negative regulation of autophagy [GO:0010507]; negative regulation of protein binding [GO:0032091]; positive regulation of protein glycosylation [GO:0060050]; positive regulation of ubiquitin protein ligase activity [GO:1904668]; protein glycosylation [GO:0006486]; protein homotetramerization [GO:0051289]; protein transport [GO:0015031]; spindle assembly [GO:0051225]; spindle assembly involved in meiosis [GO:0090306]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q08379-1; Sequence=Displayed; Name=2; IsoId=Q08379-2; Sequence=VSP_007727; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:11781572, ECO:0000305|PubMed:8315394}; Peripheral membrane protein {ECO:0000269|PubMed:11781572}; Cytoplasmic side {ECO:0000269|PubMed:11781572}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:11781572}; Peripheral membrane protein {ECO:0000269|PubMed:11781572}; Cytoplasmic side {ECO:0000269|PubMed:11781572}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:26165940}. Note=Associates with the mitotic spindle during mitosis (PubMed:26165940). {ECO:0000250|UniProtKB:Q62839, ECO:0000269|PubMed:26165940}.


uniprotID: A7E2F4
geneSymbol: GOLGA8A
name: Golgin subfamily A member 8A (88 kDa Golgi matrix protein) (GM88) (GM88 autoantigen)
length: 631
go: ENSG00000175265;
snps: rs347880 rs238639 rs347879
sequence:

opentargets:
cis-Golgi network [GO:0005801]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi cis cisterna [GO:0000137]; Golgi cisterna membrane [GO:0032580]; Golgi organization [GO:0007030]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A7E2F4-1; Sequence=Displayed; Name=2; IsoId=A7E2F4-3; Sequence=VSP_040753; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q9BYB4
geneSymbol: GNB1L
length: 327
go: ENSG00000185838;
snps: rs35178436 rs5748449 rs2073770 rs61758989
name:
Guanine nucleotide-binding protein subunit beta-like protein 1 (G protein subunit beta-like protein 1) (DGCRK3) (WD repeat-containing protein 14) (WD40 repeat-containing protein deleted in VCFS) (WDVCF)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; social behavior [GO:0035176]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BYB4-1; Sequence=Displayed; Name=2; IsoId=Q9BYB4-2; Sequence=VSP_006767, VSP_006768; Note=No experimental confirmation available.; 


uniprotID: Q99678
geneSymbol: GPR20
reactome: R-HSA-418555;
name: G-protein coupled receptor 20
length: 358
go: ENSG00000204882;
snps: rs10875472 rs36092215 rs34591516
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]; 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]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18347022}; Multi-pass membrane protein {ECO:0000269|PubMed:18347022}.


uniprotID: Q99680
geneSymbol: GPR22
name: G-protein coupled receptor 22
length: 433
go: ENSG00000172209;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; cell projection organization [GO:0030030]; G protein-coupled receptor signaling pathway [GO:0007186]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:D4A3U0}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P01566
geneSymbol: IFNA10
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
name: Interferon alpha-10 (IFN-alpha-10) (Interferon alpha-6L) (Interferon alpha-C) (LeIF C)
length: 189
go: ENSG00000186803;
snps: rs2230853
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MALSFSLLMAVLVLSYKSICSLGCDLPQTHSLGNRRALILLGQMGRISPFSCLKDRHDFRIPQEEFDGNQFQKAQAISVLHEMIQQTFNLFSTEDSSAAWEQSLLEKFSTELYQQLNDLEACVIQEVGVEETPLMNEDSILAVRKYFQRITLYLIERKYSPCAWEVVRAEIMRSLSFSTNLQKRLRRKD

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: Q8WXG9
geneSymbol: GPR98
length: 6306
go: ENSG00000164199;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
G-protein coupled receptor 98 (Monogenic audiogenic seizure susceptibility protein 1 homolog) (Usher syndrome type-2C protein) (Very large G-protein coupled receptor 1)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; stereocilium [GO:0032420]; synapse [GO:0045202]; calcium ion binding [GO:0005509]; G protein-coupled receptor activity [GO:0004930]; cell surface receptor signaling pathway [GO:0007166]; cell-cell adhesion [GO:0098609]; G protein-coupled receptor signaling pathway [GO:0007186]; maintenance of animal organ identity [GO:0048496]; nervous system development [GO:0007399]; nervous system process [GO:0050877]; photoreceptor cell maintenance [GO:0045494]; sensory perception of light stimulus [GO:0050953]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]

snps:
rs41311333 rs41303344 rs6889939 rs2366777 rs16868935 rs35791889 rs17544552 rs4916684 rs41303352 rs4916685 rs16868972 rs16868974 rs10037067 rs2366926 rs1878878 rs16869016 rs111033530 rs13157270 rs114137750 rs16869032 rs10067636 rs2366928 rs16869088 rs16869088 rs1131691924 rs2438374 rs770471921 rs756460900 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=VLGR1b; IsoId=Q8WXG9-1; Sequence=Displayed; Name=2; Synonyms=VLGR1a; IsoId=Q8WXG9-2; Sequence=VSP_017947, VSP_017950; Note=May be due to intron retention.; Name=3; Synonyms=VLGR1c; IsoId=Q8WXG9-3; Sequence=VSP_017948, VSP_017949; Note=Dubious isoform produced through aberrant splice sites. {ECO:0000305|PubMed:11606593}; Name=4; IsoId=Q8WXG9-4; Sequence=VSP_035313, VSP_035314; Note=May be due to intron retention. No experimental confirmation available.; 


uniprotID: P81274
geneSymbol: GPSM2
reactome: R-HSA-418594;
pdb: 3SF4;4WND;4WNE;4WNF;4WNG;5A6C;
name: G-protein-signaling modulator 2 (Mosaic protein LGN)
length: 684
go: ENSG00000121957;
sequence:

opentargets:
cell cortex [GO:0005938]; cell cortex region [GO:0099738]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; lateral cell cortex [GO:0097575]; lateral plasma membrane [GO:0016328]; mitotic spindle pole [GO:0097431]; protein-containing complex [GO:0032991]; dynein complex binding [GO:0070840]; G-protein alpha-subunit binding [GO:0001965]; GDP-dissociation inhibitor activity [GO:0005092]; identical protein binding [GO:0042802]; nucleotide binding [GO:0000166]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; protein self-association [GO:0043621]; cell division [GO:0051301]; establishment of mitotic spindle orientation [GO:0000132]; G protein-coupled receptor signaling pathway [GO:0007186]; maintenance of centrosome location [GO:0051661]; mitotic spindle organization [GO:0007052]; positive regulation of protein localization to cell cortex [GO:1904778]; positive regulation of spindle assembly [GO:1905832]; Ran protein signal transduction [GO:0031291]; regulation of mitotic spindle organization [GO:0060236]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11781568, ECO:0000269|PubMed:15632202, ECO:0000269|PubMed:22074847}. Cytoplasm, cell cortex {ECO:0000269|PubMed:15632202, ECO:0000269|PubMed:21816348, ECO:0000269|PubMed:22074847, ECO:0000269|PubMed:22327364}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:11781568, ECO:0000269|PubMed:21816348}. Lateral cell membrane {ECO:0000269|PubMed:26766442}. Note=Localizes in the cytoplasm during interphase and at cell cortex during metaphase (PubMed:11781568, PubMed:15632202, PubMed:22074847). Colocalizes with NUMA1 to mitotic spindle poles (PubMed:11781568, PubMed:21816348). Localized at the central and lateral cell cortex regions in a RanGTP-dependent manner (PubMed:22327364). In horizontally retinal progenitor dividing cells, localized to the lateral cortical region. In vertically retinal progenitor dividing cells, localized at the polar cortical region (By similarity). {ECO:0000250|UniProtKB:Q8VDU0, ECO:0000269|PubMed:11781568, ECO:0000269|PubMed:15632202, ECO:0000269|PubMed:21816348, ECO:0000269|PubMed:22074847, ECO:0000269|PubMed:22327364}.


uniprotID: Q9Y4H4
geneSymbol: GPSM3
reactome: R-HSA-418594;
name: G-protein-signaling modulator 3 (Activator of G-protein signaling 4) (G18.1b) (Protein G18)
length: 160
go: ENSG00000213654;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15096500}.
sequence:
MEAERPQEEEDGEQGPPQDEEGWPPPNSTTRPWRSAPPSPPPPGTRHTALGPRSASLLSLQTELLLDLVAEAQSRRLEEQRATFYTPQNPSSLAPAPLRPLEDREQLYSTILSHQCQRMEAQRSEPPLPPGGQELLELLLRVQGGGRMEEQRSRPPTHTC

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; GTPase regulator activity [GO:0030695]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]; positive regulation of inflammatory response [GO:0050729]; positive regulation of leukocyte chemotaxis [GO:0002690]


uniprotID: Q96I76
geneSymbol: GPATCH3
name: G patch domain-containing protein 3
length: 525
go: ENSG00000198746;
snps: rs764461662 rs879261101 rs35243557 rs376709877
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; nucleic acid binding [GO:0003676]; negative regulation of RIG-I signaling pathway [GO:0039536]; negative regulation of type I interferon production [GO:0032480]; positive regulation of transcription, DNA-templated [GO:0045893]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28397860}. Cytoplasm {ECO:0000269|PubMed:28397860}.


uniprotID: P01574
geneSymbol: IFNB1
reactome: R-HSA-2559580;R-HSA-909733;R-HSA-912694;R-HSA-918233;R-HSA-933541;R-HSA-983231;
pdb: 1AU1;
name: Interferon beta (IFN-beta) (Fibroblast interferon)
length: 187
go: ENSG00000171855;
drug: DB02379;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MTNKCLLQIALLLCFSTTALSMSYNLLGFLQRSSNFQCQKLLWQLNGRLEYCLKDRMNFDIPEEIKQLQQFQKEDAALTIYEMLQNIFAIFRQDSSSTGWNETIVENLLANVYHQINHLKTVLEEKLEKEDFTRGKLMSSLHLKRYYGRILHYLKAKEYSHCAWTIVRVEILRNFYFINRLTGYLRN

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; chloramphenicol O-acetyltransferase activity [GO:0008811]; cytokine activity [GO:0005125]; type I interferon receptor binding [GO:0005132]; adaptive immune response [GO:0002250]; B cell activation involved in immune response [GO:0002312]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; blood coagulation [GO:0007596]; cell surface receptor signaling pathway [GO:0007166]; cellular response to exogenous dsRNA [GO:0071360]; cellular response to interferon-beta [GO:0035458]; 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 T cell differentiation [GO:0045581]; negative regulation of T-helper 2 cell cytokine production [GO:2000552]; negative regulation of viral genome replication [GO:0045071]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of innate immune response [GO:0045089]; positive regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033141]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of MHC class I biosynthetic process [GO:0045343]; 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: P10144
geneSymbol: GZMB
reactome: R-HSA-2197563;R-HSA-75108;
pdb: 1FQ3;1IAU;
length: 247
go: ENSG00000100453;
snps: rs8192917 rs11539752 rs2236338
name:
Granzyme B (EC 3.4.21.79) (C11) (CTLA-1) (Cathepsin G-like 1) (CTSGL1) (Cytotoxic T-lymphocyte proteinase 2) (Lymphocyte protease) (Fragmentin-2) (Granzyme-2) (Human lymphocyte protein) (HLP) (SECT) (T-cell serine protease 1-3E)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; immunological synapse [GO:0001772]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; secretory granule [GO:0030141]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; apoptotic process [GO:0006915]; cytolysis [GO:0019835]; granzyme-mediated apoptotic signaling pathway [GO:0008626]; natural killer cell mediated cytotoxicity [GO:0042267]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]

location:
SUBCELLULAR LOCATION: Cytoplasmic granule {ECO:0000269|PubMed:8258716}. Note=Cytoplasmic granules of cytolytic T-lymphocytes and natural killer cells.


uniprotID: Q7Z6J2
geneSymbol: GRASP
pdb: 2PNT;
length: 395
go: ENSG00000161835;
name:
General receptor for phosphoinositides 1-associated scaffold protein (GRP1-associated scaffold protein)

sequence:

opentargets:
cell junction [GO:0030054]; glutamatergic synapse [GO:0098978]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; Schaffer collateral - CA1 synapse [GO:0098685]; ADP-ribosylation factor binding [GO:0030306]; identical protein binding [GO:0042802]; PDZ domain binding [GO:0030165]; protein localization [GO:0008104]; regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane [GO:0099152]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z6J2-1; Sequence=Displayed; Name=2; IsoId=Q7Z6J2-2; Sequence=VSP_015707, VSP_015708; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Note=Localized at postsynaptic membranes. {ECO:0000250}.


uniprotID: P51124
geneSymbol: GZMM
reactome: R-HSA-173736;
pdb: 1LZP;2ZGC;2ZGH;2ZGJ;2ZKS;
length: 257
go: ENSG00000197540;
snps: rs1599882
location: SUBCELLULAR LOCATION: Secreted. Cytoplasmic granule. Note=Granules of large granular lymphocytes.
name:
Granzyme M (EC 3.4.21.-) (Met-1 serine protease) (Hu-Met-1) (Met-ase) (Natural killer cell granular protease)

sequence:

opentargets:
extracellular region [GO:0005576]; membrane [GO:0016020]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; apoptotic process [GO:0006915]; cell death [GO:0008219]; cytolysis [GO:0019835]; innate immune response [GO:0045087]; T cell mediated cytotoxicity [GO:0001913]


uniprotID: Q4V328
geneSymbol: GRIPAP1
length: 841
go: ENSG00000068400;
name:
GRIP1-associated protein 1 (GRASP-1) [Cleaved into: GRASP-1 C-terminal chain (30kDa C-terminus form)]

sequence:

opentargets:
axon [GO:0030424]; blood microparticle [GO:0072562]; cell junction [GO:0030054]; cytosol [GO:0005829]; dendrite [GO:0030425]; extrinsic component of postsynaptic early endosome membrane [GO:0098998]; glutamatergic synapse [GO:0098978]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; postsynaptic recycling endosome [GO:0098837]; recycling endosome membrane [GO:0055038]; neurotransmitter receptor transport, endosome to postsynaptic membrane [GO:0098887]; regulation of modification of synaptic structure [GO:1905244]; regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane [GO:0099152]; regulation of recycling endosome localization within postsynapse [GO:0099158]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q4V328-1; Sequence=Displayed; Name=2; IsoId=Q4V328-2; Sequence=VSP_015700, VSP_015703, VSP_015704, VSP_015705; Note=No experimental confirmation available.; Name=3; IsoId=Q4V328-3; Sequence=VSP_015699, VSP_015701, VSP_015704, VSP_015705; Note=No experimental confirmation available.; Name=4; IsoId=Q4V328-4; Sequence=VSP_015702; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:15897011}; Peripheral membrane protein {ECO:0000305}. Recycling endosome membrane {ECO:0000250|UniProtKB:Q9JHZ4}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JHZ4}. Cell projection, axon {ECO:0000250|UniProtKB:Q9JHZ4}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q9JHZ4}. Cell junction, synapse {ECO:0000250|UniProtKB:Q9JHZ4}. Note=Localizes to recycling endosomal tubules that are emanating from early endosomes. {ECO:0000250|UniProtKB:Q9JHZ4}.


uniprotID: P60568
geneSymbol: IL2
reactome: R-HSA-5673001;R-HSA-8877330;R-HSA-9020558;R-HSA-912526;
name: Interleukin-2 (IL-2) (T-cell growth factor) (TCGF) (Aldesleukin)
length: 153
go: ENSG00000109471;
drug: DB03455;DB04278;DB05676;DB05299;DB00852;DB03957;DB02555;DB05304;
location: SUBCELLULAR LOCATION: Secreted.
pdb:
1ILM;1ILN;1IRL;1M47;1M48;1M49;1M4A;1M4B;1M4C;1NBP;1PW6;1PY2;1QVN;1Z92;2B5I;2ERJ;3INK;3QAZ;3QB1;4NEJ;4NEM;5LQB;5M5E;5UTZ;

sequence:
MYRMQLLSCIALSLALVTNSAPTSSSTKKTQLQLEHLLLDLQMILNGINNYKNPKLTRMLTFKFYMPKKATELKHLQCLEEELKPLEEVLNLAQSKNFHLRPRDLISNINVIVLELKGSETTFMCEYADETATIVEFLNRWITFCQSIISTLT

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; carbohydrate binding [GO:0030246]; cytokine activity [GO:0005125]; glycosphingolipid binding [GO:0043208]; growth factor activity [GO:0008083]; interleukin-2 receptor binding [GO:0005134]; kappa-type opioid receptor binding [GO:0031851]; kinase activator activity [GO:0019209]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; adaptive immune response [GO:0002250]; cell adhesion [GO:0007155]; cell-cell signaling [GO:0007267]; cytokine-mediated signaling pathway [GO:0019221]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; immune response [GO:0006955]; interleukin-2-mediated signaling pathway [GO:0038110]; leukocyte activation involved in immune response [GO:0002366]; MAPK cascade [GO:0000165]; natural killer cell activation [GO:0030101]; negative regulation of apoptotic process [GO:0043066]; negative regulation of B cell apoptotic process [GO:0002903]; negative regulation of heart contraction [GO:0045822]; negative regulation of inflammatory response [GO:0050728]; negative regulation of lymphocyte proliferation [GO:0050672]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of T-helper 17 cell differentiation [GO:2000320]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of immunoglobulin secretion [GO:0051024]; 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 isotype switching to IgG isotypes [GO:0048304]; positive regulation of regulatory T cell differentiation [GO:0045591]; 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]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of regulatory T cell differentiation [GO:0045589]; regulation of T cell homeostatic proliferation [GO:0046013]; response to ethanol [GO:0045471]; T cell differentiation [GO:0030217]


uniprotID: Q9UHA7
geneSymbol: IL36A
reactome: R-HSA-9014826;
length: 158
go: ENSG00000136694;
snps: rs895497 rs28938798 rs28947175
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Interleukin-36 alpha (FIL1 epsilon) (Interleukin-1 epsilon) (IL-1 epsilon) (Interleukin-1 family member 6) (IL-1F6)

sequence:
MEKALKIDTPQQGSIQDINHRVWVLQDQTLIAVPRKDRMSPVTIALISCRHVETLEKDRGNPIYLGLNGLNLCLMCAKVGDQPTLQLKEKDIMDLYNQPEPVKSFLFYHSQSGRNSTFESVAFPGWFIAVSSEGGCPLILTQELGKANTTDFGLTMLF

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; interleukin-1 receptor binding [GO:0005149]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; 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]


uniprotID: P08263
geneSymbol: GSTA1
reactome: R-HSA-156590;
length: 222
go: ENSG00000243955;
drug: DB02486;DB00993;DB01008;DB00143;DB03003;DB02943;DB03602;DB04132;DB01915;
snps: rs1051578 rs1051745 rs1051757
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1GSD;1GSE;1GSF;1GUH;1K3L;1K3O;1K3Y;1LBK;1PKW;1PKZ;1PL1;1PL2;1USB;1XWG;1YDK;2R3X;2R6K;3I69;3I6A;3IK9;3KTL;3L0H;3Q74;3U6V;3ZFB;3ZFL;4HJ2;5JCU;5LCZ;5LD0;6ATO;6ATP;6ATQ;6ATR;

name:
Glutathione S-transferase A1 (EC 2.5.1.18) (GST HA subunit 1) (GST class-alpha member 1) (GST-epsilon) (GSTA1-1) (GTH1) [Cleaved into: Glutathione S-transferase A1, N-terminally processed]

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutathione peroxidase activity [GO:0004602]; glutathione transferase activity [GO:0004364]; epithelial cell differentiation [GO:0030855]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]; linoleic acid metabolic process [GO:0043651]


uniprotID: P09210
geneSymbol: GSTA2
reactome: R-HSA-156590;R-HSA-8950505;
pdb: 1AGS;2VCT;2WJU;4ACS;
length: 222
go: ENSG00000244067;
drug: DB00993;DB01008;DB00608;DB00636;DB00903;DB00143;DB00163;
snps: rs2234951 rs2180314 rs2266631 rs6577
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Glutathione S-transferase A2 (EC 2.5.1.18) (GST HA subunit 2) (GST class-alpha member 2) (GST-gamma) (GSTA2-2) (GTH2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutathione transferase activity [GO:0004364]; epithelial cell differentiation [GO:0030855]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]; interleukin-12-mediated signaling pathway [GO:0035722]


uniprotID: Q16772
geneSymbol: GSTA3
reactome: R-HSA-156590;
pdb: 1TDI;2VCV;
length: 222
go: ENSG00000174156;
drug: DB00143;DB04521;
snps: rs45504096 rs1052661 rs41273858 rs45602042 rs45620832
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Glutathione S-transferase A3 (EC 2.5.1.18) (GST class-alpha member 3) (Glutathione S-transferase A3-3)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutathione transferase activity [GO:0004364]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]


uniprotID: P32927
geneSymbol: CSF2RB
reactome: R-HSA-512988;R-HSA-5673001;R-HSA-5683826;R-HSA-5688849;R-HSA-5688890;R-HSA-912526;
pdb: 1C8P;1EGJ;1GH7;2GYS;2NA8;2NA9;4NKQ;5DWU;
length: 897
go: ENSG00000100368;
drug: DB05264;DB00020;
snps: rs16845 rs1801122 rs1801115 rs1801114 rs16997517
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Cytokine receptor common subunit beta (CDw131) (GM-CSF/IL-3/IL-5 receptor common beta subunit) (CD antigen CD131)

sequence:

opentargets:
granulocyte macrophage colony-stimulating factor receptor complex [GO:0030526]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; cytokine receptor activity [GO:0004896]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor activity [GO:0038023]; cellular protein metabolic process [GO:0044267]; cellular response to interleukin-3 [GO:0036016]; cytokine-mediated signaling pathway [GO:0019221]; interleukin-3-mediated signaling pathway [GO:0038156]; interleukin-5-mediated signaling pathway [GO:0038043]; MAPK cascade [GO:0000165]; respiratory gaseous exchange [GO:0007585]; response to lipopolysaccharide [GO:0032496]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P32927-1; Sequence=Displayed; Name=2; IsoId=P32927-2; Sequence=VSP_032798; 


uniprotID: P49840
geneSymbol: GSK3A
reactome: R-HSA-198323;R-HSA-381038;R-HSA-5674400;
pdb: 2DFM;
length: 483
go: ENSG00000105723;
snps: rs35978177 rs35454502
name:
Glycogen synthase kinase-3 alpha (GSK-3 alpha) (EC 2.7.11.26) (Serine/threonine-protein kinase GSK3A) (EC 2.7.11.1)

sequence:

opentargets:
apical dendrite [GO:0097440]; beta-catenin destruction complex [GO:0030877]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; postsynapse [GO:0098794]; proximal dendrite [GO:1990635]; ATP binding [GO:0005524]; protein kinase A catalytic subunit binding [GO:0034236]; protein serine/threonine kinase activity [GO:0004674]; signaling receptor binding [GO:0005102]; tau-protein kinase activity [GO:0050321]; cardiac left ventricle morphogenesis [GO:0003214]; cellular response to insulin stimulus [GO:0032869]; cellular response to interleukin-3 [GO:0036016]; dopamine receptor signaling pathway [GO:0007212]; excitatory postsynaptic potential [GO:0060079]; extrinsic apoptotic signaling pathway [GO:0097191]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; glycogen metabolic process [GO:0005977]; insulin receptor signaling pathway [GO:0008286]; IRE1-mediated unfolded protein response [GO:0036498]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell growth involved in cardiac muscle cell development [GO:0061052]; negative regulation of glucose import [GO:0046325]; negative regulation of glycogen (starch) synthase activity [GO:2000466]; negative regulation of glycogen biosynthetic process [GO:0045719]; negative regulation of glycogen synthase activity, transferring glucose-1-phosphate [GO:1904227]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of TOR signaling [GO:0032007]; negative regulation of type B pancreatic cell development [GO:2000077]; negative regulation of UDP-glucose catabolic process [GO:0010905]; nervous system development [GO:0007399]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071879]; positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0106071]; positive regulation of amyloid-beta formation [GO:1902004]; positive regulation of gene expression [GO:0010628]; positive regulation of glycogen (starch) synthase activity [GO:2000467]; positive regulation of heart contraction [GO:0045823]; positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901030]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein targeting to mitochondrion [GO:1903955]; positive regulation of protein ubiquitination [GO:0031398]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein phosphorylation [GO:0006468]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of systemic arterial blood pressure [GO:0003073]; Wnt signaling pathway [GO:0016055]


uniprotID: Q01344
geneSymbol: IL5RA
reactome: R-HSA-512988;R-HSA-5673001;R-HSA-912526;
pdb: 1OBX;1OBZ;3QT2;3VA2;
length: 420
go: ENSG00000091181;
snps: rs2290610 rs17879690
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-5 receptor subunit alpha (IL-5 receptor subunit alpha) (IL-5R subunit alpha) (IL-5R-alpha) (IL-5RA) (CDw125) (CD antigen CD125)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; interleukin-5 receptor activity [GO:0004914]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cell proliferation [GO:0008283]; cytokine-mediated signaling pathway [GO:0019221]; inflammatory response to antigenic stimulus [GO:0002437]; MAPK cascade [GO:0000165]; regulation of interleukin-5 production [GO:0032674]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Membrane-bound; IsoId=Q01344-1; Sequence=Displayed; Name=2; Synonyms=Soluble-S1; IsoId=Q01344-2; Sequence=VSP_001678, VSP_001679; Name=3; Synonyms=Soluble-S2; IsoId=Q01344-3; Sequence=VSP_001680, VSP_001681; Name=4; IsoId=Q01344-4; Sequence=VSP_046742; Name=5; IsoId=Q01344-5; Sequence=VSP_047762; 


uniprotID: Q9Y2Q3
geneSymbol: GSTK1
reactome: R-HSA-156590;R-HSA-9033241;
pdb: 1YZX;3RPN;3RPP;
length: 226
go: ENSG00000197448;
drug: DB00143;DB04700;
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:14742434}.
name:
Glutathione S-transferase kappa 1 (EC 2.5.1.18) (GST 13-13) (GST class-kappa) (GSTK1-1) (hGSTK1) (Glutathione S-transferase subunit 13)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular [GO:0005622]; membrane [GO:0016020]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; glutathione peroxidase activity [GO:0004602]; glutathione transferase activity [GO:0004364]; protein disulfide oxidoreductase activity [GO:0015035]; signaling receptor binding [GO:0005102]; epithelial cell differentiation [GO:0030855]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]; protein targeting to peroxisome [GO:0006625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y2Q3-1; Sequence=Displayed; Name=2; IsoId=Q9Y2Q3-2; Sequence=VSP_040025; Name=3; IsoId=Q9Y2Q3-3; Sequence=VSP_040979; Name=4; IsoId=Q9Y2Q3-4; Sequence=VSP_040978; 


uniprotID: Q9P0R6
geneSymbol: GSKIP
pdb: 1SGO;
name: GSK3B-interacting protein (GSKIP) (GSK3beta interaction protein)
length: 139
go: ENSG00000100744;
sequence:
METDCNPMELSSMSGFEEGSELNGFEGTDMKDMRLEAEAVVNDVLFAVNNMFVSKSLRCADDVAYINVETKERNRYCLELTEAGLKVVGYAFDQVDDHLQTPYHETVYSLLDTLSPAYREAFGNALLQRLEALKRDGQS

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; protein kinase A binding [GO:0051018]; protein kinase A regulatory subunit binding [GO:0034237]; protein kinase binding [GO:0019901]; protein kinase inhibitor activity [GO:0004860]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; negative regulation of protein kinase activity [GO:0006469]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; regulation of Wnt signaling pathway [GO:0030111]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16981698, ECO:0000269|PubMed:20007971}. Nucleus {ECO:0000269|PubMed:20007971}.


uniprotID: P21266
geneSymbol: GSTM3
reactome: R-HSA-156590;
pdb: 3GTU;
name: Glutathione S-transferase Mu 3 (EC 2.5.1.18) (GST class-mu 3) (GSTM3-3) (hGSTM3-3)
length: 225
go: ENSG00000134202;
drug: DB00143;DB00163;
snps: rs7483
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intercellular bridge [GO:0045171]; nucleus [GO:0005634]; sperm fibrous sheath [GO:0035686]; enzyme binding [GO:0019899]; glutathione binding [GO:0043295]; glutathione transferase activity [GO:0004364]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; cellular detoxification of nitrogen compound [GO:0070458]; establishment of blood-nerve barrier [GO:0008065]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]; nitrobenzene metabolic process [GO:0018916]; response to estrogen [GO:0043627]; xenobiotic catabolic process [GO:0042178]


uniprotID: P46439
geneSymbol: GSTM5
reactome: R-HSA-156590;
name: Glutathione S-transferase Mu 5 (EC 2.5.1.18) (GST class-mu 5) (GSTM5-5)
length: 218
go: ENSG00000134201;
drug: DB00143;
snps: rs17854972 rs2227963
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; intercellular bridge [GO:0045171]; glutathione transferase activity [GO:0004364]; identical protein binding [GO:0042802]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]


uniprotID: P78417
geneSymbol: GSTO1
reactome: R-HSA-156581;R-HSA-156590;R-HSA-196836;R-HSA-8950505;
pdb: 1EEM;3LFL;3VLN;4IS0;4YQM;4YQU;4YQV;5UEH;5V3Q;
length: 241
go: ENSG00000148834;
drug: DB00143;DB00163;
snps: rs45529437 rs11509436 rs4925 rs11509438 rs11509439
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11511179}.
name:
Glutathione S-transferase omega-1 (GSTO-1) (EC 2.5.1.18) (Glutathione S-transferase omega 1-1) (GSTO 1-1) (Glutathione-dependent dehydroascorbate reductase) (EC 1.8.5.1) (Monomethylarsonic acid reductase) (MMA(V) reductase) (EC 1.20.4.2) (S-(Phenacyl)glutathione reductase) (SPG-R)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutathione dehydrogenase (ascorbate) activity [GO:0045174]; glutathione transferase activity [GO:0004364]; methylarsonate reductase activity [GO:0050610]; oxidoreductase activity [GO:0016491]; cellular response to arsenic-containing substance [GO:0071243]; glutathione derivative biosynthetic process [GO:1901687]; interleukin-12-mediated signaling pathway [GO:0035722]; L-ascorbic acid metabolic process [GO:0019852]; methylation [GO:0032259]; negative regulation of ryanodine-sensitive calcium-release channel activity [GO:0060315]; oxidation-reduction process [GO:0055114]; positive regulation of ryanodine-sensitive calcium-release channel activity [GO:0060316]; positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion [GO:0014810]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; xenobiotic catabolic process [GO:0042178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P78417-1; Sequence=Displayed; Name=2; IsoId=P78417-2; Sequence=VSP_045820; Name=3; IsoId=P78417-3; Sequence=VSP_045819; 


uniprotID: P05231
geneSymbol: IL6
pdb: 1ALU;1IL6;1N2Q;1P9M;2IL6;4CNI;4J4L;4NI7;4NI9;4O9H;4ZS7;5FUC;
length: 212
go: ENSG00000136244;
drug: DB05250;DB05066;DB05744;DB01404;DB05767;DB09036;DB05470;DB05017;
snps: rs2069830 rs13306435 rs2069860
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-1059683;R-HSA-110056;R-HSA-112411;R-HSA-2559582;R-HSA-381426;R-HSA-6783783;R-HSA-6785807;R-HSA-8957275;

name:
Interleukin-6 (IL-6) (B-cell stimulatory factor 2) (BSF-2) (CTL differentiation factor) (CDF) (Hybridoma growth factor) (Interferon beta-2) (IFN-beta-2)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; interleukin-6 receptor complex [GO:0005896]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; interleukin-6 receptor binding [GO:0005138]; acute-phase response [GO:0006953]; cellular protein metabolic process [GO:0044267]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; defense response to virus [GO:0051607]; endocrine pancreas development [GO:0031018]; glucagon secretion [GO:0070091]; hepatic immune response [GO:0002384]; humoral immune response [GO:0006959]; inflammatory response [GO:0006954]; interleukin-6-mediated signaling pathway [GO:0070102]; monocyte chemotaxis [GO:0002548]; negative regulation of apoptotic process [GO:0043066]; negative regulation of bone resorption [GO:0045779]; negative regulation of cell proliferation [GO:0008285]; negative regulation of chemokine biosynthetic process [GO:0045079]; negative regulation of collagen biosynthetic process [GO:0032966]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of interleukin-1-mediated signaling pathway [GO:2000660]; negative regulation of lipid storage [GO:0010888]; negative regulation of neurogenesis [GO:0050768]; neuron projection development [GO:0031175]; neutrophil apoptotic process [GO:0001781]; neutrophil mediated immunity [GO:0002446]; platelet activation [GO:0030168]; positive regulation of acute inflammatory response [GO:0002675]; positive regulation of apoptotic process [GO:0043065]; positive regulation of B cell activation [GO:0050871]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chemokine production [GO:0032722]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of gene expression [GO:0010628]; positive regulation of glial cell proliferation [GO:0060252]; positive regulation of immunoglobulin secretion [GO:0051024]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of leukocyte chemotaxis [GO:0002690]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of neuroinflammatory response [GO:0150078]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of T-helper 2 cell cytokine production [GO:2000553]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of translation [GO:0045727]; positive regulation of type B pancreatic cell apoptotic process [GO:2000676]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; post-translational protein modification [GO:0043687]; regulation of angiogenesis [GO:0045765]; regulation of vascular endothelial growth factor production [GO:0010574]; response to glucocorticoid [GO:0051384]; response to peptidoglycan [GO:0032494]; T-helper 17 cell lineage commitment [GO:0072540]


uniprotID: Q01113
geneSymbol: IL9R
reactome: R-HSA-8985947;
name: Interleukin-9 receptor (IL-9 receptor) (IL-9R) (CD antigen CD129)
length: 521
go: ENSG00000124334;
snps: rs3093495 rs6522 rs149119910 rs2230001 rs2228650
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Secreted.
sequence:

opentargets:
extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; interleukin-9 receptor activity [GO:0004919]; cell proliferation [GO:0008283]; interleukin-9-mediated signaling pathway [GO:0038113]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q01113-1; Sequence=Displayed; Name=2; IsoId=Q01113-2; Sequence=VSP_039025; Name=3; IsoId=Q01113-3; Sequence=VSP_046207, VSP_046208, VSP_046209, VSP_046210; 


uniprotID: Q86SU0
geneSymbol: ILDR1
name: Immunoglobulin-like domain-containing receptor 1
length: 546
go: ENSG00000145103;
snps: rs771818841 rs372564314 rs778163752
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; tricellular tight junction [GO:0061689]; high-density lipoprotein particle receptor activity [GO:0070506]; identical protein binding [GO:0042802]; cellular response to leukemia inhibitory factor [GO:1990830]; positive regulation of peptide hormone secretion [GO:0090277]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Alpha; IsoId=Q86SU0-1; Sequence=Displayed; Name=2; IsoId=Q86SU0-2; Sequence=VSP_019683; Name=3; IsoId=Q86SU0-3; Sequence=VSP_019684, VSP_019685; Note=No experimental confirmation available.; Name=4; IsoId=Q86SU0-4; Sequence=VSP_019680, VSP_019686, VSP_019687; Note=No experimental confirmation available.; Name=5; Synonyms=Beta; IsoId=Q86SU0-5; Sequence=VSP_019681, VSP_019682; Name=6; Synonyms=Alpha'; IsoId=Q86SU0-6; Sequence=VSP_019679, VSP_019683; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15381095}; Single-pass type I membrane protein {ECO:0000269|PubMed:15381095}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm, cytosol {ECO:0000269|PubMed:15381095}.


uniprotID: Q71H61
geneSymbol: ILDR2
name: Immunoglobulin-like domain-containing receptor 2
length: 639
go: ENSG00000143195;
snps: rs33958744
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; cell differentiation [GO:0030154]; homeostasis of number of cells within a tissue [GO:0048873]; insulin secretion [GO:0030073]; pancreas development [GO:0031016]; response to glucose [GO:0009749]


uniprotID: P30740
geneSymbol: SERPINB1
reactome: R-HSA-6798695;
pdb: 4GA7;
length: 379
go: ENSG00000021355;
snps: rs34825616
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasmic granule {ECO:0000269|PubMed:23269243}.
name:
Leukocyte elastase inhibitor (LEI) (Monocyte/neutrophil elastase inhibitor) (EI) (M/NEI) (Peptidase inhibitor 2) (PI-2) (Serpin B1)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; secretory granule lumen [GO:0034774]; serine-type endopeptidase inhibitor activity [GO:0004867]; negative regulation of endopeptidase activity [GO:0010951]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30740-1; Sequence=Displayed; Name=2; IsoId=P30740-2; Sequence=VSP_056511; Note=No experimental confirmation available.; 


uniprotID: P78347
geneSymbol: GTF2I
pdb: 2D9B;2DN4;2ED2;2EJE;
length: 998
go: ENSG00000263001;
snps: rs1057896
name:
General transcription factor II-I (GTFII-I) (TFII-I) (Bruton tyrosine kinase-associated protein 135) (BAP-135) (BTK-associated protein 135) (SRF-Phox1-interacting protein) (SPIN) (Williams-Beuren syndrome chromosomal region 6 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cytosolic calcium ion concentration [GO:0051481]; signal transduction [GO:0007165]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P78347-1; Sequence=Displayed; Name=2; IsoId=P78347-2; Sequence=VSP_003867, VSP_003868; Name=3; IsoId=P78347-3; Sequence=VSP_003867; Name=4; IsoId=P78347-4; Sequence=VSP_003868; Name=5; IsoId=P78347-5; Sequence=VSP_003867, VSP_055195, VSP_055196; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10373551}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00484, ECO:0000269|PubMed:10373551}. Note=Colocalizes with BTK in the cytoplasm.


uniprotID: Q13418
geneSymbol: ILK
reactome: R-HSA-446343;R-HSA-446353;
pdb: 2KBX;3F6Q;3IXE;3KMU;3KMW;3REP;4HI8;4HI9;
length: 452
go: ENSG00000166333;
snps: rs387907366
name:
Integrin-linked protein kinase (EC 2.7.11.1) (59 kDa serine/threonine-protein kinase) (ILK-1) (ILK-2) (p59ILK)

sequence:

opentargets:
cell junction [GO:0030054]; cell-cell junction [GO:0005911]; costamere [GO:0043034]; cytosol [GO:0005829]; dendritic shaft [GO:0043198]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; sarcomere [GO:0030017]; stress fiber [GO:0001725]; terminal bouton [GO:0043195]; ATP binding [GO:0005524]; integrin binding [GO:0005178]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; SH3 domain binding [GO:0017124]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell aging [GO:0007569]; cell cycle arrest [GO:0007050]; cell junction assembly [GO:0034329]; cell proliferation [GO:0008283]; cell-matrix adhesion [GO:0007160]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; fibroblast migration [GO:0010761]; integrin-mediated signaling pathway [GO:0007229]; MAPK cascade [GO:0000165]; myelin assembly [GO:0032288]; myelination in peripheral nervous system [GO:0022011]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of neural precursor cell proliferation [GO:2000178]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of smooth muscle cell migration [GO:0014912]; negative regulation of smooth muscle cell proliferation [GO:0048662]; nerve development [GO:0021675]; neuron projection morphogenesis [GO:0048812]; outflow tract morphogenesis [GO:0003151]; peptidyl-serine phosphorylation [GO:0018105]; platelet aggregation [GO:0070527]; positive regulation of axon extension [GO:0045773]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of dendrite morphogenesis [GO:0050775]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of phosphorylation [GO:0042327]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of signal transduction [GO:0009967]; positive regulation of transcription, DNA-templated [GO:0045893]; protein heterooligomerization [GO:0051291]; protein kinase B signaling [GO:0043491]; protein phosphorylation [GO:0006468]; regulation of actin cytoskeleton organization [GO:0032956]; substrate adhesion-dependent cell spreading [GO:0034446]; supramolecular fiber organization [GO:0097435]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13418-1; Sequence=Displayed; Name=2; IsoId=Q13418-2; Sequence=VSP_054920; Note=No experimental confirmation available.; Name=3; IsoId=Q13418-3; Sequence=VSP_055925; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, focal adhesion {ECO:0000269|PubMed:11402068, ECO:0000269|PubMed:12167643}. Cell membrane; Peripheral membrane protein; Cytoplasmic side {ECO:0000269|PubMed:11402068}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:O55222}. Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:11402068}.


uniprotID: Q8N3Z3
geneSymbol: GTPBP8
name: GTP-binding protein 8
length: 284
go: ENSG00000163607;
opentargets: mitochondrion [GO:0005739]; GTP binding [GO:0005525]; metal ion binding [GO:0046872]
snps: rs1054263
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N3Z3-1; Sequence=Displayed; Name=2; IsoId=Q8N3Z3-2; Sequence=VSP_034055; Note=No experimental confirmation available.; Name=3; IsoId=Q8N3Z3-3; Sequence=VSP_034056, VSP_034057; Note=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: Q9HB29
geneSymbol: IL1RL2
reactome: R-HSA-9007892;R-HSA-9014826;
length: 575
go: ENSG00000115598;
snps: rs13405631 rs33946385 rs2302612
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein {ECO:0000269|PubMed:24829417}.
name:
Interleukin-1 receptor-like 2 (IL-36 receptor) (IL-36R) (Interleukin-1 receptor-related protein 2) (IL-1Rrp2) (IL1R-rp2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; interleukin-1 receptor activity [GO:0004908]; interleukin-1, type I, activating receptor activity [GO:0004909]; cellular defense response [GO:0006968]; cellular response to cytokine stimulus [GO:0071345]; cytokine-mediated signaling pathway [GO:0019221]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of T cell differentiation [GO:0045582]; regulation of inflammatory response [GO:0050727]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HB29-1; Sequence=Displayed; Name=2; IsoId=Q9HB29-2; Sequence=VSP_056292, VSP_056293, VSP_056294; Note=No experimental confirmation available.; 


uniprotID: O95528
geneSymbol: SLC2A10
reactome: R-HSA-189200;R-HSA-5619068;
length: 541
go: ENSG00000197496;
drug: DB09502;
name:
Solute carrier family 2, facilitated glucose transporter member 10 (Glucose transporter type 10) (GLUT-10)

sequence:

opentargets:
endomembrane system [GO:0012505]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; carbohydrate:proton symporter activity [GO:0005351]; D-glucose transmembrane transporter activity [GO:0055056]; glucose transmembrane transporter activity [GO:0005355]; glucose transmembrane transport [GO:1904659]; hexose transmembrane transport [GO:0008645]

snps:
rs80358230 rs6094438 rs121908173 rs864309480 rs2235491 rs34295241 rs771028960 rs564317065 rs121908172 rs763220502 rs753723351 rs6018008 rs7348121 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:16550171}; Multi-pass membrane protein {ECO:0000269|PubMed:16550171}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:16550171}.


uniprotID: Q9BYW1
geneSymbol: SLC2A11
reactome: R-HSA-189200;
length: 496
go: ENSG00000133460;
drug: DB09502;
snps: rs7292659 rs9608213 rs36015336 rs34096096 rs60882514
name:
Solute carrier family 2, facilitated glucose transporter member 11 (Glucose transporter type 10) (GLUT-10) (Glucose transporter type 11) (GLUT-11)

sequence:

opentargets:
cell junction [GO:0030054]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; sugar transmembrane transporter activity [GO:0051119]; hexose transmembrane transport [GO:0008645]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=GLUT11; IsoId=Q9BYW1-1; Sequence=Displayed; Name=2; Synonyms=GLUT11-s; IsoId=Q9BYW1-2; Sequence=VSP_006293, VSP_006294, VSP_006295; Name=3; IsoId=Q9BYW1-3; Sequence=VSP_006293; Name=4; Synonyms=GLUT11-L; IsoId=Q9BYW1-4; Sequence=VSP_045650; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12175779}; Multi-pass membrane protein {ECO:0000269|PubMed:12175779}.


uniprotID: P11168
geneSymbol: SLC2A2
reactome: R-HSA-189200;R-HSA-210745;R-HSA-422356;R-HSA-5619098;R-HSA-8981373;
length: 524
go: ENSG00000163581;
drug: DB09502;DB00428;
snps: rs7637863 rs1800572 rs5400 rs121909741 rs121909747 rs2229608 rs121909744 rs28928874 rs5397
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Solute carrier family 2, facilitated glucose transporter member 2 (Glucose transporter type 2, liver) (GLUT-2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border [GO:0005903]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; D-glucose transmembrane transporter activity [GO:0055056]; dehydroascorbic acid transmembrane transporter activity [GO:0033300]; glucose transmembrane transporter activity [GO:0005355]; hexose transmembrane transporter activity [GO:0015149]; carbohydrate metabolic process [GO:0005975]; glucose transmembrane transport [GO:1904659]; hexose transmembrane transport [GO:0008645]; intestinal hexose absorption [GO:0106001]; regulation of insulin secretion [GO:0050796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11168-1; Sequence=Displayed; Name=2; IsoId=P11168-2; Sequence=VSP_054835; 


uniprotID: Q8TDB8
geneSymbol: SLC2A14
reactome: R-HSA-189200;
length: 520
go: ENSG00000173262;
snps: rs10845981
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Solute carrier family 2, facilitated glucose transporter member 14 (Glucose transporter type 14) (GLUT-14)

sequence:

opentargets:
integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; D-glucose transmembrane transporter activity [GO:0055056]; cell differentiation [GO:0030154]; glucose transmembrane transport [GO:1904659]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=GLUT14-L; IsoId=Q8TDB8-1; Sequence=Displayed; Name=2; Synonyms=GLUT14-S; IsoId=Q8TDB8-2; Sequence=VSP_014450; Name=3; IsoId=Q8TDB8-3; Sequence=VSP_014449; Note=No experimental confirmation available.; Name=4; IsoId=Q8TDB8-4; Sequence=VSP_055253; Note=No experimental confirmation available.; Name=5; IsoId=Q8TDB8-5; Sequence=VSP_055254; Note=No experimental confirmation available.; 


uniprotID: P11166
geneSymbol: SLC2A1
reactome: R-HSA-189200;R-HSA-196836;R-HSA-422356;R-HSA-5619043;R-HSA-5653890;
pdb: 1SUK;4PYP;5EQG;5EQH;5EQI;
length: 492
go: ENSG00000117394;
drug: DB08831;DB08830;DB00292;DB09502;
name:
Solute carrier family 2, facilitated glucose transporter member 1 (Glucose transporter type 1, erythrocyte/brain) (GLUT-1) (HepG2 glucose transporter)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; blood microparticle [GO:0072562]; caveola [GO:0005901]; cortical actin cytoskeleton [GO:0030864]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; female pronucleus [GO:0001939]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; intercalated disc [GO:0014704]; melanosome [GO:0042470]; membrane [GO:0016020]; midbody [GO:0030496]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; Z disc [GO:0030018]; D-glucose transmembrane transporter activity [GO:0055056]; dehydroascorbic acid transmembrane transporter activity [GO:0033300]; glucose transmembrane transporter activity [GO:0005355]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; protein self-association [GO:0043621]; xenobiotic transmembrane transporter activity [GO:0042910]; cellular hyperosmotic response [GO:0071474]; cellular response to glucose starvation [GO:0042149]; cellular response to mechanical stimulus [GO:0071260]; cerebral cortex development [GO:0021987]; female pregnancy [GO:0007565]; glucose transmembrane transport [GO:1904659]; L-ascorbic acid metabolic process [GO:0019852]; lactose biosynthetic process [GO:0005989]; protein-containing complex assembly [GO:0065003]; regulation of glucose transmembrane transport [GO:0010827]; regulation of insulin secretion [GO:0050796]; response to hypoxia [GO:0001666]; response to insulin [GO:0032868]; response to Thyroglobulin triiodothyronine [GO:1904016]

snps:
rs80359812 rs201815571 rs142986731 rs80359813 rs80359814 rs202060209 rs267607061 rs267607060 rs753161833 rs80359818 rs80359816 rs80359816 rs80359819 rs80359820 rs794727642 rs1057520545 rs387907312 rs886039517 rs397514564 rs397514564 rs796053248 rs387907313 rs121909738 rs121909740 rs864309514 rs80359823 rs80359824 rs121909739 rs796053253 rs80359825 rs398123069 rs13306758 rs267607059 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Melanosome. Note=Localizes primarily at the cell surface. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: P63211
geneSymbol: GNGT1
name: Guanine nucleotide-binding protein G(T) subunit gamma-T1 (Transducin gamma chain)
sequence: MPVINIEDLTEKDKLKMEVDQLKKEVTLERMLVSKCCEEVRDYVEERSGEDPLVKGIPEDKNPFKELKGGCVIS
length: 74
go: ENSG00000127928;
snps: rs17243826
reactome:
R-HSA-1296041;R-HSA-202040;R-HSA-2485179;R-HSA-2514859;R-HSA-381676;R-HSA-381753;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;R-HSA-997272;

opentargets:
heterotrimeric G-protein complex [GO:0005834]; photoreceptor disc membrane [GO:0097381]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; GTPase activity [GO:0003924]; cardiac muscle cell apoptotic process [GO:0010659]; cellular response to hypoxia [GO:0071456]; eye photoreceptor cell development [GO:0042462]; phototransduction [GO:0007602]; protein localization [GO:0008104]; rhodopsin mediated signaling pathway [GO:0016056]; signal transduction [GO:0007165]


uniprotID: Q9UG22
geneSymbol: GIMAP2
pdb: 2XTM;2XTN;2XTO;2XTP;3P1J;
name: GTPase IMAP family member 2 (Immunity-associated protein 2) (hIMAP2)
length: 337
go: ENSG00000106560;
snps: rs11558054 rs17173567 rs2075078
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; GTP binding [GO:0005525]; identical protein binding [GO:0042802]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm. Lipid droplet. Note=Detected on the surface of cytoplasmic lipid droplets.


uniprotID: Q6EEV4
geneSymbol: POLR2M
length: 148
go: ENSG00000255529;
snps: rs11858659
name:
DNA-directed RNA polymerase II subunit GRINL1A, isoforms 4/5 (DNA-directed RNA polymerase II subunit M, isoforms 4/5)

sequence:
MATPARAPESPPSADPALVAGPAEEAECPPPRQPQPAQNVLAAPRLRAPSSRGLGAAEFGGAAGNVEAPGETFAQRVSWGPAESPPGSFSSSSLGAPLPSRTLFPSLEGDFDSVTFASVLRASGRRACCGRAVPLPGQKIHLQIARQR

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=4; Synonyms=Gdown4; IsoId=Q6EEV4-1; Sequence=Displayed; Name=1; Synonyms=Gdown1; IsoId=P0CAP2-1; Sequence=External; Name=2; Synonyms=Gdown6; IsoId=P0CAP2-2; Sequence=External; Name=3; IsoId=P0CAP2-3; Sequence=External; Name=5; Synonyms=Gdown3; IsoId=Q6EEV4-2; Sequence=VSP_032624; Name=11; Synonyms=Gcom1, GRINL1A complex locus protein 1; IsoId=P0CAP1-11; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces a MYZAP-POLR2M fusion protein.; 


uniprotID: P0CG01
geneSymbol: GKN3P
name: Gastrokine-3
length: 181
opentargets: extracellular space [GO:0005615]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:
MKHLVASSILGVFVLTPSLAMMNIRFNHPLYGSFGTQIIHIGAFQGMVSIRDNNIFSEWDGILDYKNALLVAKVFNKMACVLARMDKAVFPSLDDISKALDKQAFKYYPSTRGLTYTVLPSWVKNLAQYGKPIKNMCRDDPTYFAQQQKEGTALAIDSNSCFEIQLLSFMGLFICGETPGL


uniprotID: Q8NCI6
geneSymbol: GLB1L3
name: Beta-galactosidase-1-like protein 3 (EC 3.2.1.-)
length: 653
go: ENSG00000166105;
snps: rs472287 rs2509062
sequence:

opentargets:
vacuole [GO:0005773]; beta-galactosidase activity [GO:0004565]; carbohydrate metabolic process [GO:0005975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NCI6-1; Sequence=Displayed; Name=2; IsoId=Q8NCI6-2; Sequence=VSP_024280; Name=4; IsoId=Q8NCI6-4; Sequence=VSP_024283, VSP_024284; 


uniprotID: P01763
geneSymbol: IGHV3-48
name: Immunoglobulin heavy variable 3-48 (Ig heavy chain V-III region WEA)
length: 117
go: ENSG00000211964;
sequence:
MELGLCWVFLVAILEGVQCEVQLVESGGGLVQPGGSLRLSCAASGFTFSSYEMNWVRQAPGKGLEWVSYISSSGSTIYYADSVKGRFTISRDNAKNSLYLQMNSLRAEDTAVYYCAR

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]; 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]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: A0A0A0MS15
geneSymbol: IGHV3-49
name: Immunoglobulin heavy variable 3-49
length: 119
go: ENSG00000211965;
sequence:
MEFGLSWVFLVAILKGVQCEVQLVESGGGLVQPGRSLRLSCTASGFTFGDYAMSWVRQAPGKGLEWVGFIRSKAYGGTTEYAASVKGRFTISRDDSKSIAYLQMNSLKTEDTAVYYCTR

opentargets:
external side of plasma membrane [GO:0009897]; 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: A0A0B4J1V6
geneSymbol: IGHV3-73
name: Immunoglobulin heavy variable 3-73
length: 119
go: ENSG00000211976;
sequence:
MEFGLSWVFLVAILKGVQCEVQLVESGGGLVQPGGSLKLSCAASGFTFSGSAMHWVRQASGKGLEWVGRIRSKANSYATAYAASVKGRFTISRDDSKNTAYLQMNSLKTEDTAVYYCTR

opentargets:
external side of plasma membrane [GO:0009897]; 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: A0A0C4DH34
geneSymbol: IGHV4-28
name: Immunoglobulin heavy variable 4-28
length: 117
go: ENSG00000211952;
sequence:
MKHLWFFLLLVAAPRWVLSQVQLQESGPGLVKPSDTLSLTCAVSGYSISSSNWWGWIRQPPGKGLEWIGYIYYSGSTYYNPSLKSRVTMSVDTSKNQFSLKLSSVTAVDTAVYYCAR

opentargets:
external side of plasma membrane [GO:0009897]; 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: P0DP02
geneSymbol: IGHV3-30-3
name: Immunoglobulin heavy variable 3-30-3
length: 117
sequence:
MEFGLSWVFLVALLRGVQCQVQLVESGGGVVQPGRSLRLSCAASGFTFSSYAMHWVRQAPGKGLEWVAVISYDGSNKYYADSVKGRFTISRDNSKNTLYLQMNSLRAEDTAVYYCAR


uniprotID: Q8IVK1
geneSymbol: GLYCAM1
reactome: R-HSA-198933;
name: Putative glycosylation-dependent cell adhesion molecule 1 (GlyCAM-1)
sequence: MKFFMVLLPASLASTSLAILDVESGLLPQLSVLLSNRLRGKTCQTGP
length: 47
opentargets: plasma membrane [GO:0005886]; regulation of immune response [GO:0050776]
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IVK1-1; Sequence=Displayed; Name=2; IsoId=Q8IVK1-2; Sequence=VSP_034444; 


uniprotID: P04062
geneSymbol: GBA
reactome: R-HSA-1660662;R-HSA-390471;
length: 536
go: ENSG00000177628;
drug: DB03106;DB03740;DB06720;
pdb:
1OGS;1Y7V;2F61;2J25;2NSX;2NT0;2NT1;2V3D;2V3E;2V3F;2VT0;2WCG;2WKL;2XWD;2XWE;3GXD;3GXF;3GXI;3GXM;3KE0;3KEH;3RIK;3RIL;5LVX;

name:
Glucosylceramidase (EC 3.2.1.45) (Acid beta-glucosidase) (Alglucerase) (Beta-glucocerebrosidase) (Beta-GC) (D-glucosyl-N-acylsphingosine glucohydrolase) (Imiglucerase)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extrinsic component of membrane [GO:0019898]; lysosomal lumen [GO:0043202]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; glucosylceramidase activity [GO:0004348]; hydrolase activity [GO:0016787]; scavenger receptor binding [GO:0005124]; signaling receptor binding [GO:0005102]; autophagosome organization [GO:1905037]; beta-glucoside catabolic process [GO:1901805]; cellular response to starvation [GO:0009267]; cellular response to tumor necrosis factor [GO:0071356]; ceramide biosynthetic process [GO:0046513]; glucosylceramide catabolic process [GO:0006680]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of neuron death [GO:1901215]; negative regulation of protein homooligomerization [GO:0032463]; positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization [GO:1904925]; positive regulation of neuronal action potential [GO:1904457]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein complex disassembly [GO:0043243]; positive regulation of protein dephosphorylation [GO:0035307]; positive regulation of protein lipidation [GO:1903061]; positive regulation of protein metabolic process [GO:0051247]; positive regulation of proteolysis involved in cellular protein catabolic process [GO:1903052]; regulation of cellular protein metabolic process [GO:0032268]; regulation of lysosomal protein catabolic process [GO:1905165]; regulation of macroautophagy [GO:0016241]; regulation of water loss via skin [GO:0033561]; response to dexamethasone [GO:0071548]; response to estrogen [GO:0043627]; response to pH [GO:0009268]; response to testosterone [GO:0033574]; response to thyroid hormone [GO:0097066]; skin morphogenesis [GO:0043589]; sphingosine biosynthetic process [GO:0046512]; termination of signal transduction [GO:0023021]

snps:
rs142761046 rs121908302 rs773007510 rs1141811 rs77829017 rs78769774 rs1141814 rs1141815 rs121908312 rs758447515 rs77834747 rs79653797 rs439898 rs79637617 rs121908299 rs377325220 rs79796061 rs398123530 rs80356763 rs78657146 rs1441909908 rs79660787 rs147138516 rs121908297 rs80222298 rs77933015 rs77933015 rs76500263 rs398123532 rs374591570 rs80205046 rs866075757 rs61748906 rs381418 rs364897 rs78911246 rs75636769 rs381427 rs381427 rs74462743 rs1064644 rs773409311 rs77451368 rs409652 rs76026102 rs121908300 rs381737 rs74500255 rs76725886 rs121908313 rs367968666 rs78973108 rs80116658 rs79215220 rs1057942 rs74731340 rs765633380 rs79696831 rs121908298 rs77714449 rs77321207 rs78396650 rs78198234 rs121908304 rs398123526 rs78188205 rs76539814 rs121908305 rs2230288 rs1064648 rs781306264 rs121908306 rs398123527 rs121908308 rs74979486 rs149487315 rs76228122 rs121908307 rs1392291885 rs75548401 rs76763715 rs121908314 rs398123528 rs121908311 rs77284004 rs1057519357 rs994723035 rs76910485 rs77738682 rs80356769 rs75385858 rs75243000 rs121908310 rs74598136 rs75564605 rs1064651 rs77369218 rs121908295 rs74752878 rs75671029 rs421016 rs421016 rs76071730 rs368060 rs1362103320 rs80356771 rs121908301 rs78016673 rs747506979 rs75822236 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=5;  Name=Long; IsoId=P04062-1; Sequence=Displayed; Note=Has a 39 residue signal sequence. The upstream initiation site produces two to three times as much protein as does the downstream initiation codon.; Name=Short; IsoId=P04062-2; Sequence=VSP_018800; Note=Has a 19 residue signal sequence.; Name=3; IsoId=P04062-3; Sequence=VSP_025216, VSP_025217, VSP_025218; Note=Produced by alternative splicing.; Name=4; IsoId=P04062-4; Sequence=VSP_054655; Note=No experimental confirmation available.; Name=5; IsoId=P04062-5; Sequence=VSP_054656; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17187079, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18022370}; Peripheral membrane protein {ECO:0000269|PubMed:17187079, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18022370}; Lumenal side {ECO:0000269|PubMed:17187079, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18022370}. Note=Interaction with saposin-C promotes membrane association. Targeting to lysosomes occurs through an alternative MPR-independent mechanism via SCARB2.


uniprotID: Q53GS7
geneSymbol: GLE1
reactome: R-HSA-159236;
pdb: 6B4F;6B4I;6B4J;
name: Nucleoporin GLE1 (hGLE1) (GLE1-like protein)
length: 698
go: ENSG00000119392;
snps: rs17852725 rs2275260 rs121434407 rs17856852 rs121434408 rs121434409
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nuclear pore cytoplasmic filaments [GO:0044614]; nucleolus [GO:0005730]; identical protein binding [GO:0042802]; inositol hexakisphosphate binding [GO:0000822]; phospholipid binding [GO:0005543]; translation initiation factor binding [GO:0031369]; mRNA export from nucleus [GO:0006406]; poly(A)+ mRNA export from nucleus [GO:0016973]; regulation of translational initiation [GO:0006446]; regulation of translational termination [GO:0006449]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=hGle1B; IsoId=Q53GS7-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=hGle1A; IsoId=Q53GS7-2; Sequence=VSP_016486, VSP_016487; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12668658}. Cytoplasm {ECO:0000269|PubMed:12668658}. Note=Shuttles between the nucleus and the cytoplasm (PubMed:12668658). Shuttling is essential for its mRNA export function (PubMed:12668658). {ECO:0000269|PubMed:12668658}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:12668658}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:12668658}. Note=Shuttles between the nucleus and the cytoplasm (PubMed:12668658). In the nucleus, isoform 1 localizes to the nuclear pore complex and nuclear envelope (PubMed:12668658). Shuttling is essential for its mRNA export function (PubMed:12668658). {ECO:0000269|PubMed:12668658}.


uniprotID: D6RF30
geneSymbol: GOLGA8K
name: Golgin subfamily A member 8K
length: 607
sequence:

opentargets:
cis-Golgi network [GO:0005801]; Golgi apparatus [GO:0005794]; Golgi cis cisterna [GO:0000137]; Golgi cisterna membrane [GO:0032580]; Golgi organization [GO:0007030]


uniprotID: O15228
geneSymbol: GNPAT
reactome: R-HSA-1483166;R-HSA-75896;R-HSA-9033241;
length: 680
go: ENSG00000116906;
snps: rs121434440 rs121434439 rs11122266 rs11558492 rs17849315
name:
Dihydroxyacetone phosphate acyltransferase (DAP-AT) (DHAP-AT) (EC 2.3.1.42) (Acyl-CoA:dihydroxyacetonephosphateacyltransferase) (Glycerone-phosphate O-acyltransferase)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrial membrane [GO:0031966]; peroxisomal matrix [GO:0005782]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; glycerone-phosphate O-acyltransferase activity [GO:0016287]; palmitoyl-CoA hydrolase activity [GO:0016290]; signaling receptor binding [GO:0005102]; cerebellum morphogenesis [GO:0021587]; ether lipid biosynthetic process [GO:0008611]; fatty acid metabolic process [GO:0006631]; membrane organization [GO:0061024]; paranodal junction assembly [GO:0030913]; phosphatidic acid biosynthetic process [GO:0006654]; phospholipid biosynthetic process [GO:0008654]; protein targeting to peroxisome [GO:0006625]; response to drug [GO:0042493]; response to fatty acid [GO:0070542]; response to nutrient [GO:0007584]; response to starvation [GO:0042594]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15228-1; Sequence=Displayed; Name=2; IsoId=O15228-2; Sequence=VSP_056435; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Matrix side {ECO:0000250}. Note=Exclusively localized to the lumenal side of the peroxisomal membrane. {ECO:0000250}.


uniprotID: H3BQL2
geneSymbol: GOLGA8T
name: Golgin subfamily A member 8T
length: 631
sequence:

opentargets:
cis-Golgi network [GO:0005801]; Golgi apparatus [GO:0005794]; Golgi cis cisterna [GO:0000137]; Golgi cisterna membrane [GO:0032580]; Golgi organization [GO:0007030]


uniprotID: A8MTJ3
geneSymbol: GNAT3
name: Guanine nucleotide-binding protein G(t) subunit alpha-3 (Gustducin alpha-3 chain)
length: 354
go: ENSG00000214415;
reactome:
R-HSA-112043;R-HSA-170670;R-HSA-202040;R-HSA-381771;R-HSA-392170;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-6814122;

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; apical plasma membrane [GO:0016324]; axoneme [GO:0005930]; heterotrimeric G-protein complex [GO:0005834]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; G protein-coupled receptor binding [GO:0001664]; G-protein beta/gamma-subunit complex binding [GO:0031683]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; G protein-coupled receptor signaling pathway [GO:0007186]; protein folding [GO:0006457]; response to nicotine [GO:0035094]; sensory perception of sweet taste [GO:0050916]; sensory perception of umami taste [GO:0050917]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8015379}. Note=Dual ditribution pattern; plasmalemmal pattern with apical region localization and cytosolic pattern with localization throughout the cytoplasm.


uniprotID: Q08378
geneSymbol: GOLGA3
name: Golgin subfamily A member 3 (Golgi complex-associated protein of 170 kDa) (GCP170) (Golgin-160)
length: 1498
go: ENSG00000090615;
snps: rs2291256 rs3741486 rs2291260
sequence:

opentargets:
cytosol [GO:0005829]; extrinsic component of Golgi membrane [GO:0090498]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; Golgi transport complex [GO:0017119]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; transporter activity [GO:0005215]; intra-Golgi vesicle-mediated transport [GO:0006891]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Golgin-160B; IsoId=Q08378-1; Sequence=Displayed; Name=2; IsoId=Q08378-2; Sequence=VSP_007728, VSP_007729; Note=No experimental confirmation available. May be due to an intron retention.; Name=3; IsoId=Q08378-4; Sequence=VSP_038000, VSP_038001; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein.


uniprotID: Q13439
geneSymbol: GOLGA4
reactome: R-HSA-6811440;
pdb: 1R4A;1UPT;
name: Golgin subfamily A member 4 (256 kDa golgin) (Golgin-245) (Protein 72.1) (Trans-Golgi p230)
length: 2230
go: ENSG00000144674;
snps: rs11718848 rs9840779 rs11924014
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; trans-Golgi network [GO:0005802]; GTPase binding [GO:0051020]; Golgi to plasma membrane protein transport [GO:0043001]; positive regulation of axon extension [GO:0045773]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q13439-1; Sequence=Displayed; Name=3; IsoId=Q13439-3; Sequence=VSP_004274; Name=4; IsoId=Q13439-4; Sequence=VSP_004275; Name=5; IsoId=Q13439-5; Sequence=VSP_044819, VSP_004274, VSP_004275; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus membrane {ECO:0000269|PubMed:10209123, ECO:0000269|PubMed:10209125, ECO:0000269|PubMed:11303027, ECO:0000269|PubMed:14718928, ECO:0000269|PubMed:15265687}; Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:29084197}.


uniprotID: Q9NZI8
geneSymbol: IGF2BP1
reactome: R-HSA-428359;R-HSA-5687128;
pdb: 3KRM;
length: 577
go: ENSG00000159217;
name:
Insulin-like growth factor 2 mRNA-binding protein 1 (IGF2 mRNA-binding protein 1) (IMP-1) (IMP1) (Coding region determinant-binding protein) (CRD-BP) (IGF-II mRNA-binding protein 1) (VICKZ family member 1) (Zipcode-binding protein 1) (ZBP-1)

sequence:

opentargets:
CRD-mediated mRNA stability complex [GO:0070937]; cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; filopodium [GO:0030175]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; ribonucleoprotein complex [GO:1990904]; mRNA 3'-UTR binding [GO:0003730]; mRNA 5'-UTR binding [GO:0048027]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; translation regulator activity [GO:0045182]; CRD-mediated mRNA stabilization [GO:0070934]; mRNA transport [GO:0051028]; negative regulation of translation [GO:0017148]; neuronal stem cell population maintenance [GO:0097150]; pallium cell proliferation in forebrain [GO:0022013]; regulation of cytokine biosynthetic process [GO:0042035]; regulation of mRNA stability [GO:0043488]; regulation of mRNA stability involved in response to stress [GO:0010610]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZI8-1; Sequence=Displayed; Name=2; IsoId=Q9NZI8-2; Sequence=VSP_045366; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Cell projection, lamellipodium. Cell projection, dendrite {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Cell projection, growth cone. Cell projection, filopodium {ECO:0000250}. Cell projection, axon {ECO:0000250}. Note=In the nucleus, located in discrete foci, coinciding with the sites of ACTB transcription (By similarity). In the cytoplasm, localizes in cytoplasmic mRNP granules. Colocalizes with microtubules in growth cone filopodia and along neurites in neuronal cells (By similarity). Cytoplasmic colocalization with ACTB mRNA is partially lost at the cell periphery, suggesting release of the transcript. In neuronal processes, exhibits fast retrograde and anterograde movements, when associated with ACTB mRNA; this motility is lost when the association is inhibited (By similarity). In hippocampal neurons, predominantly located within dendrites, particularly at dendritic branching points in young cells, compared to axons (By similarity). In axons, predominantly found in axonal branches and their growth cones (By similarity). In motile cells, such as migrating fibroblasts, localizes to leading edges where it colocalizes with microtubules and microfilaments and to retracting tails (By similarity). Dendritic levels are regulated by neuronal activity and glutaminergic signals: they are increased by KCl-induced depolarization, which induces rapid efflux from the cell body into dendrites, and decreased by the NMDA receptor agonist (By similarity). In motile cells, transported towards the leading edge into the cortical region of the lamellipodia where it is connected to microfilaments (By similarity). In response to cellular stress, such as oxidative stress or heat shock, recruited to stress granules, but not to processing bodies. {ECO:0000250}.


uniprotID: A6NC78
geneSymbol: GOLGA8IP
name: Putative golgin subfamily A member 8I (Golgin subfamily A member 8I pseudogene)
length: 632
sequence:

opentargets:
cis-Golgi network [GO:0005801]; Golgi apparatus [GO:0005794]; Golgi cis cisterna [GO:0000137]; Golgi cisterna membrane [GO:0032580]; Golgi organization [GO:0007030]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q9Y6M1
geneSymbol: IGF2BP2
reactome: R-HSA-428359;
pdb: 2CQH;
length: 599
go: ENSG00000073792;
name:
Insulin-like growth factor 2 mRNA-binding protein 2 (IGF2 mRNA-binding protein 2) (IMP-2) (Hepatocellular carcinoma autoantigen p62) (IGF-II mRNA-binding protein 2) (VICKZ family member 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; nucleus [GO:0005634]; mRNA 3'-UTR binding [GO:0003730]; mRNA 5'-UTR binding [GO:0048027]; RNA binding [GO:0003723]; translation regulator activity [GO:0045182]; anatomical structure morphogenesis [GO:0009653]; mRNA transport [GO:0051028]; negative regulation of translation [GO:0017148]; regulation of cytokine biosynthetic process [GO:0042035]; regulation of mRNA stability [GO:0043488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=6;  Name=1; IsoId=Q9Y6M1-2; Sequence=Displayed; Name=2; IsoId=Q9Y6M1-1; Sequence=VSP_036553; Name=3; IsoId=Q9Y6M1-3; Sequence=VSP_036550; Name=4; IsoId=Q9Y6M1-4; Sequence=VSP_036550, VSP_036552; Name=5; IsoId=Q9Y6M1-5; Sequence=VSP_036550, VSP_036553; Name=6; IsoId=Q9Y6M1-6; Sequence=VSP_043699; Note=Generated by alternative initiation at Met-69. {ECO:0000244|PubMed:22223895, ECO:0000244|PubMed:22814378}; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Localizes at the connecting piece and the tail of the spermatozoa. In response to cellular stress, such as oxidative stress, recruited to stress granules.


uniprotID: Q7Z5G4
geneSymbol: GOLGA7
reactome: R-HSA-6798695;
name: Golgin subfamily A member 7 (Golgi complex-associated protein of 16 kDa)
length: 137
go: ENSG00000147533;
sequence:
MRPQQAPVSGKVFIQRDYSSGTRCQFQTKFPAELENRIDRQQFEETVRTLNNLYAEAEKLGGQSYLEGCLACLTAYTIFLCMETHYEKVLKKVSKYIQEQNEKIYAPQGLLLTDPIERGLRVIEITIYEDRGMSSGR

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; Golgi stack [GO:0005795]; intrinsic component of Golgi membrane [GO:0031228]; palmitoyltransferase complex [GO:0002178]; tertiary granule lumen [GO:1904724]; Golgi to plasma membrane protein transport [GO:0043001]; neutrophil degranulation [GO:0043312]; peptidyl-L-cysteine S-palmitoylation [GO:0018230]; protein stabilization [GO:0050821]; protein targeting to membrane [GO:0006612]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z5G4-1; Sequence=Displayed; Name=2; IsoId=Q7Z5G4-3; Sequence=VSP_046793; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:14522980, ECO:0000269|PubMed:16000296}; Lipid-anchor {ECO:0000269|PubMed:14522980, ECO:0000269|PubMed:16000296}.


uniprotID: Q3T8J9
geneSymbol: GON4L
name: GON-4-like protein (GON-4 homolog)
length: 2241
go: ENSG00000116580;
snps: rs3738586 rs34939643 rs676814 rs2297775 rs607790
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00810}.
sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription corepressor activity [GO:0003714]; B cell differentiation [GO:0030183]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Isoform A; IsoId=Q3T8J9-1; Sequence=Displayed; Name=2; Synonyms=Isoform B; IsoId=Q3T8J9-2; Sequence=VSP_016580, VSP_016581; Name=3; IsoId=Q3T8J9-3; Sequence=VSP_016582; 


uniprotID: O95249
geneSymbol: GOSR1
reactome: R-HSA-6807878;R-HSA-6811438;
length: 250
go: ENSG00000108587;
name:
Golgi SNAP receptor complex member 1 (28 kDa Golgi SNARE protein) (28 kDa cis-Golgi SNARE p28) (GOS-28)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi medial cisterna [GO:0005797]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; SNARE complex [GO:0031201]; transport vesicle [GO:0030133]; SNAP receptor activity [GO:0005484]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]; protein transport [GO:0015031]; regulation of vesicle targeting, to, from or within Golgi [GO:0048209]; retrograde transport, endosome to Golgi [GO:0042147]; vesicle fusion [GO:0006906]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95249-1; Sequence=Displayed; Name=2; IsoId=O95249-2; Sequence=VSP_047326; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:15215310, ECO:0000269|PubMed:15728195, ECO:0000269|PubMed:17274796, ECO:0000269|PubMed:17337506, ECO:0000269|PubMed:21669198}; Single-pass type IV membrane protein {ECO:0000269|PubMed:15215310, ECO:0000269|PubMed:15728195, ECO:0000269|PubMed:17274796, ECO:0000269|PubMed:17337506, ECO:0000269|PubMed:21669198}. Note=Localizes throughout the Golgi apparatus, with lowest levels in the trans-Golgi network (By similarity). Enriched on vesicular components at the terminal rims of the Golgi. Found in Golgi microtubules at low temperature (15 degrees Celsius). {ECO:0000250}.


uniprotID: Q9HD26
geneSymbol: GOPC
reactome: R-HSA-5627083;
length: 462
go: ENSG00000047932;
pdb:
2DC2;2LOB;4E34;4E35;4JOE;4JOF;4JOG;4JOH;4JOJ;4JOK;4JOP;4JOR;4K6Y;4K72;4K75;4K76;4K78;4NMO;4NMP;4NMQ;4NMR;4NMS;4NMT;4NMV;4Q6H;4Q6S;5IC3;5K4F;

name:
Golgi-associated PDZ and coiled-coil motif-containing protein (CFTR-associated ligand) (Fused in glioblastoma) (PDZ protein interacting specifically with TC10) (PIST)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi-associated vesicle membrane [GO:0030660]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; protein-containing complex [GO:0032991]; trans-Golgi network transport vesicle [GO:0030140]; ion channel binding [GO:0044325]; apical protein localization [GO:0045176]; cytoplasmic sequestering of CFTR protein [GO:0043004]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi to plasma membrane transport [GO:0006893]; negative regulation of anion channel activity [GO:0010360]; negative regulation of protein localization to cell surface [GO:2000009]; protein homooligomerization [GO:0051260]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HD26-1; Sequence=Displayed; Name=2; IsoId=Q9HD26-2; Sequence=VSP_016062; Name=3; IsoId=Q9HD26-3; Sequence=VSP_016063, VSP_016064; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Note=Enriched in synaptosomal and postsynaptic densities (PSD) fractions. Expressed in cell bodies and dendrites of Purkinje cells. Localized at the trans-Golgi network (TGN) of spermatids and the medulla of round spermatides. {ECO:0000250}.


uniprotID: Q6UWK7
geneSymbol: GPR15L
sequence: MRLLVLSSLLCILLLCFSIFSTEGKRRPAKAWSGRRTRLCCHRVPSPNSTNLKGHHVRLCKPCKLEPEPRLWVVPGALPQV
length: 81
go: ENSG00000188373;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25351403, ECO:0000269|PubMed:25585381}.
name:
Protein GPR15L (Antimicrobial peptide with 57 amino acid residues) (AP-57) (Antimicrobial peptide-57) (Colon-derived SUSD2 binding factor) (CSBF) (Secreted protein C10orf99)

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; chemokine activity [GO:0008009]; G protein-coupled receptor binding [GO:0001664]; receptor ligand activity [GO:0048018]; defense response to fungus [GO:0050832]; defense response to Gram-positive bacterium [GO:0050830]; G protein-coupled receptor signaling pathway [GO:0007186]; lymphocyte chemotaxis [GO:0048247]; negative regulation of cell cycle G1/S phase transition [GO:1902807]; negative regulation of cell division [GO:0051782]; regulation of T cell migration [GO:2000404]


uniprotID: Q9UJ42
geneSymbol: GPR160
name: Probable G-protein coupled receptor 160 (G-protein coupled receptor GPCR1) (hGPCR1)
length: 338
go: ENSG00000173890;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

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


uniprotID: Q96CH1
geneSymbol: GPR146
name: Probable G-protein coupled receptor 146 (G-protein coupled receptor PGR8)
length: 333
go: ENSG00000164849;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]


uniprotID: Q96P66
geneSymbol: GPR101
name: Probable G-protein coupled receptor 101
length: 508
go: ENSG00000165370;
snps: rs1190736 rs73637412 rs5931046
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; receptor complex [GO:0043235]; adrenergic receptor activity [GO:0004935]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]


uniprotID: Q7Z3F1
geneSymbol: GPR155
name: Integral membrane protein GPR155 (G-protein coupled receptor PGR22)
length: 870
go: ENSG00000163328;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; cognition [GO:0050890]; intracellular signal transduction [GO:0035556]; transmembrane transport [GO:0055085]


uniprotID: O14626
geneSymbol: GPR171
name: Probable G-protein coupled receptor 171 (G-protein coupled receptor H963)
length: 319
go: ENSG00000174946;
snps: rs3732756
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of myeloid cell differentiation [GO:0045638]


uniprotID: Q14439
geneSymbol: GPR176
reactome: R-HSA-418555;
name: G-protein coupled receptor 176 (HB-954)
length: 515
go: ENSG00000166073;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; chemical synaptic transmission [GO:0007268]; circadian behavior [GO:0048512]; G protein-coupled receptor signaling pathway [GO:0007186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14439-1; Sequence=Displayed; Name=2; IsoId=Q14439-2; Sequence=VSP_058845; Name=3; IsoId=Q14439-3; Sequence=VSP_058846; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80WT4}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P13224
geneSymbol: GP1BB
reactome: R-HSA-140837;R-HSA-430116;R-HSA-75892;R-HSA-76009;
pdb: 3REZ;3RFE;
length: 206
go: ENSG00000203618;
snps: rs121909750 rs121909751
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Platelet glycoprotein Ib beta chain (GP-Ib beta) (GPIb-beta) (GPIbB) (Antigen CD42b-beta) (CD antigen CD42c)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; transmembrane signaling receptor activity [GO:0004888]; blood coagulation [GO:0007596]; blood coagulation, intrinsic pathway [GO:0007597]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; platelet activation [GO:0030168]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13224-1; Sequence=Displayed; Name=2; IsoId=P13224-2; Sequence=VSP_032671; 


uniprotID: Q86V85
geneSymbol: GPR180
name: Integral membrane protein GPR180 (Intimal thickness-related receptor)
length: 440
go: ENSG00000152749;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; G protein-coupled receptor signaling pathway [GO:0007186]; response to pheromone [GO:0019236]


uniprotID: O60841
geneSymbol: EIF5B
reactome: R-HSA-72706;
length: 1220
go: ENSG00000158417;
snps: rs10642 rs3205296 rs7558074
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q05D44}.
name:
Eukaryotic translation initiation factor 5B (eIF-5B) (EC 3.6.5.3) (Translation initiation factor IF-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; regulation of translational initiation [GO:0006446]


uniprotID: Q8IXQ4
geneSymbol: GPALPP1
name: GPALPP motifs-containing protein 1 (Lipopolysaccharide-specific response protein 7)
length: 340
go: ENSG00000133114;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IXQ4-1; Sequence=Displayed; Name=2; IsoId=Q8IXQ4-2; Sequence=VSP_026568; Note=No experimental confirmation available.; Name=3; IsoId=Q8IXQ4-3; Sequence=VSP_026567; Note=No experimental confirmation available.; Name=4; IsoId=Q8IXQ4-4; Sequence=VSP_026569, VSP_026570; Note=No experimental confirmation available.; 


uniprotID: Q9NZH0
geneSymbol: GPRC5B
length: 403
go: ENSG00000167191;
name:
G-protein coupled receptor family C group 5 member B (A-69G12.1) (Retinoic acid-induced gene 2 protein) (RAIG-2)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor binding [GO:0001664]; protein kinase activator activity [GO:0030295]; protein kinase binding [GO:0019901]; glucose homeostasis [GO:0042593]; locomotory behavior [GO:0007626]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of inflammatory response [GO:0050729]; positive regulation of macrophage cytokine production [GO:0060907]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein tyrosine kinase activity [GO:0061098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZH0-1; Sequence=Displayed; Name=2; IsoId=Q9NZH0-2; Sequence=VSP_047585; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10945465}; Multi-pass membrane protein {ECO:0000269|PubMed:10945465}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:10945465}; Multi-pass membrane protein {ECO:0000269|PubMed:10945465}. Note=Localized in the plasma membrane and perinuclear vesicles.


uniprotID: Q9NQ84
geneSymbol: GPRC5C
length: 441
go: ENSG00000170412;
name:
G-protein coupled receptor family C group 5 member C (Retinoic acid-induced gene 3 protein) (RAIG-3)

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; vesicle [GO:0031982]; G protein-coupled receptor activity [GO:0004930]; protein kinase activator activity [GO:0030295]; G protein-coupled receptor signaling pathway [GO:0007186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQ84-1; Sequence=Displayed; Name=2; IsoId=Q9NQ84-2; Sequence=VSP_037725; 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Note=Localized in the plasma membrane and perinuclear vesicles.


uniprotID: Q9NZD1
geneSymbol: GPRC5D
name: G-protein coupled receptor family C group 5 member D
length: 345
go: ENSG00000111291;
snps: rs3741822
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; G protein-coupled receptor activity [GO:0004930]; protein kinase activator activity [GO:0030295]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NZD1-1; Sequence=Displayed; Name=2; IsoId=Q9NZD1-2; Sequence=VSP_010006, VSP_010007; Name=3; IsoId=Q9NZD1-3; Sequence=VSP_010008; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11311935}; Multi-pass membrane protein {ECO:0000269|PubMed:11311935}.


uniprotID: Q9Y625
geneSymbol: GPC6
name: Glypican-6 [Cleaved into: Secreted glypican-6]
length: 555
go: ENSG00000183098;
snps: rs1535692
reactome:
R-HSA-1971475;R-HSA-2022928;R-HSA-2024096;R-HSA-3560783;R-HSA-3560801;R-HSA-3656237;R-HSA-3656253;R-HSA-4420332;R-HSA-975634;

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; collagen-containing extracellular matrix [GO:0062023]; extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway [GO:1904929]; cell migration [GO:0016477]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan catabolic process [GO:0006027]; regulation of neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0098696]; regulation of signal transduction [GO:0009966]; retinoid metabolic process [GO:0001523]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}; Extracellular side {ECO:0000250}.; SUBCELLULAR LOCATION: Secreted glypican-6: Secreted, extracellular space {ECO:0000250}.


uniprotID: Q9NPB8
geneSymbol: GPCPD1
reactome: R-HSA-1483115;R-HSA-1483152;
pdb: 2Z0B;
length: 672
go: ENSG00000125772;
snps: rs2273373
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}.
name:
Glycerophosphocholine phosphodiesterase GPCPD1 (EC 3.1.4.2) (Glycerophosphodiester phosphodiesterase 5)

sequence:

opentargets:
cytosol [GO:0005829]; glycerophosphocholine phosphodiesterase activity [GO:0047389]; starch binding [GO:2001070]; glycerophospholipid catabolic process [GO:0046475]; skeletal muscle tissue development [GO:0007519]


uniprotID: Q14240
geneSymbol: EIF4A2
reactome: R-HSA-1169408;R-HSA-156827;R-HSA-429947;R-HSA-72649;R-HSA-72662;R-HSA-72702;R-HSA-72706;
pdb: 3BOR;
length: 407
go: ENSG00000156976;
snps: rs11538616
name:
Eukaryotic initiation factor 4A-II (eIF-4A-II) (eIF4A-II) (EC 3.6.4.13) (ATP-dependent RNA helicase eIF4A-2)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic translation initiation factor 4F complex [GO:0016281]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; ATPase activity [GO:0016887]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; cellular response to leukemia inhibitory factor [GO:1990830]; negative regulation of RNA-directed 5'-3' RNA polymerase activity [GO:1900260]; regulation of translational initiation [GO:0006446]; translational initiation [GO:0006413]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14240-1; Sequence=Displayed; Name=2; IsoId=Q14240-2; Sequence=VSP_009629; 


uniprotID: Q96T91
geneSymbol: GPHA2
reactome: R-HSA-375281;R-HSA-418555;
name: Glycoprotein hormone alpha-2 (Putative secreted protein Zsig51) (Thyrostimulin subunit alpha)
length: 129
go: ENSG00000149735;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MPMASPQTLVLYLLVLAVTEAWGQEAVIPGCHLHPFNVTVRSDRQGTCQGSHVAQACVGHCESSAFPSRYSVLVASGYRHNITSVSQCCTISGLKKVKVQLQCVGSRREELEIFTARACQCDMCRLSRY

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; hormone activity [GO:0005179]; hormone receptor binding [GO:0051427]; protein heterodimerization activity [GO:0046982]; thyrotropin-releasing hormone receptor binding [GO:0031531]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q92643
geneSymbol: PIGK
reactome: R-HSA-162791;
length: 395
go: ENSG00000142892;
snps: rs12723684
name:
GPI-anchor transamidase (GPI transamidase) (EC 3.-.-.-) (GPI8 homolog) (hGPI8) (Phosphatidylinositol-glycan biosynthesis class K protein) (PIG-K)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; GPI-anchor transamidase complex [GO:0042765]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; cysteine-type peptidase activity [GO:0008234]; GPI-anchor transamidase activity [GO:0003923]; protein disulfide isomerase activity [GO:0003756]; attachment of GPI anchor to protein [GO:0016255]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92643-1; Sequence=Displayed; Name=2; IsoId=Q92643-2; Sequence=VSP_056457; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11483512}; Single-pass type I membrane protein {ECO:0000269|PubMed:11483512}.


uniprotID: Q9GZV4
geneSymbol: EIF5A2
reactome: R-HSA-204626;
length: 153
go: ENSG00000163577;
snps: rs776545602
name:
Eukaryotic translation initiation factor 5A-2 (eIF-5A-2) (eIF-5A2) (Eukaryotic initiation factor 5A isoform 2)

sequence:
MADEIDFTTGDAGASSTYPMQCSALRKNGFVVLKGRPCKIVEMSTSKTGKHGHAKVHLVGIDIFTGKKYEDICPSTHNMDVPNIKRNDYQLICIQDGYLSLLTETGEVREDLKLPEGELGKEIEGKYNAGEDVQVSVMCAMSEEYAVAIKPCK

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; nuclear pore [GO:0005643]; ribosome binding [GO:0043022]; translation elongation factor activity [GO:0003746]; mRNA transport [GO:0051028]; polyamine homeostasis [GO:0010509]; positive regulation of cell proliferation [GO:0008284]; positive regulation of translational elongation [GO:0045901]; positive regulation of translational termination [GO:0045905]; protein transport [GO:0015031]; spermatogenesis [GO:0007283]; translational frameshifting [GO:0006452]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Nucleus, nuclear pore complex {ECO:0000250}. Note=Hypusine modification promotes the nuclear export and cytoplasmic localization and there was a dynamic shift in the localization from predominantly cytoplasmic to primarily nuclear under apoptotic inducing conditions. {ECO:0000250}.


uniprotID: Q0D2I5
geneSymbol: IFFO1
name: Intermediate filament family orphan 1 (Tumor antigen HOM-TES-103)
length: 559
go: ENSG00000010295;
opentargets: intermediate filament [GO:0005882]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q0D2I5-1; Sequence=Displayed; Name=2; IsoId=Q0D2I5-2; Sequence=VSP_030781; Note=No experimental confirmation available.; Name=3; IsoId=Q0D2I5-3; Sequence=VSP_030782, VSP_030783; 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; IsoId=Q0D2I5-4; Sequence=VSP_030784; Note=No experimental confirmation available.; Name=5; IsoId=Q0D2I5-5; Sequence=VSP_030784, VSP_038240; Name=6; IsoId=Q0D2I5-6; Sequence=VSP_030781, VSP_038240; Name=7; IsoId=Q0D2I5-7; Sequence=VSP_039709, VSP_038240; Note=No experimental confirmation available.; 


uniprotID: Q99679
geneSymbol: GPR21
name: Probable G-protein coupled receptor 21
length: 349
go: ENSG00000011454;ENSG00000188394;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; glucose homeostasis [GO:0042593]; negative regulation of insulin receptor signaling pathway [GO:0046627]; positive regulation of multicellular organism growth [GO:0040018]


uniprotID: O15354
geneSymbol: GPR37
reactome: R-HSA-375276;R-HSA-418594;
length: 613
go: ENSG00000170775;
name:
Prosaposin receptor GPR37 (Endothelin B receptor-like protein 1) (ETBR-LP-1) (G-protein coupled receptor 37) (Parkin-associated endothelin receptor-like receptor) (PAELR)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ubiquitin ligase complex [GO:0000151]; G protein-coupled peptide receptor activity [GO:0008528]; G protein-coupled receptor activity [GO:0004930]; heat shock protein binding [GO:0031072]; Hsp70 protein binding [GO:0030544]; peptide binding [GO:0042277]; prosaposin receptor activity [GO:0036505]; ubiquitin protein ligase binding [GO:0031625]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; dopamine biosynthetic process [GO:0042416]; G protein-coupled receptor signaling pathway [GO:0007186]; locomotion involved in locomotory behavior [GO:0031987]; negative regulation of hydrogen peroxide-induced cell death [GO:1903206]; positive regulation of dopamine metabolic process [GO:0045964]; positive regulation of MAPK cascade [GO:0043410]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17059562}; Multi-pass membrane protein {ECO:0000269|PubMed:17059562}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:17059562}; Multi-pass membrane protein {ECO:0000269|PubMed:17059562}.


uniprotID: Q9NS67
geneSymbol: GPR27
reactome: R-HSA-418555;
name: Probable G-protein coupled receptor 27 (Super conserved receptor expressed in brain 1)
length: 375
go: ENSG00000170837;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway [GO:1900738]; signal transduction [GO:0007165]


uniprotID: Q49SQ1
geneSymbol: GPR33
name: Probable G-protein coupled receptor 33
length: 333
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; complement receptor mediated signaling pathway [GO:0002430]; inflammatory response [GO:0006954]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]


uniprotID: Q9UPC5
geneSymbol: GPR34
name: Probable G-protein coupled receptor 34
length: 381
go: ENSG00000171659;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q9BYX4
geneSymbol: IFIH1
pdb: 2RQB;3B6E;3GA3;4GL2;
length: 1025
go: ENSG00000115267;
reactome:
R-HSA-168928;R-HSA-5689880;R-HSA-5689896;R-HSA-918233;R-HSA-933541;R-HSA-933542;R-HSA-933543;R-HSA-936440;

name:
Interferon-induced helicase C domain-containing protein 1 (EC 3.6.4.13) (Clinically amyopathic dermatomyositis autoantigen 140 kDa) (CADM-140 autoantigen) (Helicase with 2 CARD domains) (Helicard) (Interferon-induced with helicase C domain protein 1) (Melanoma differentiation-associated protein 5) (MDA-5) (Murabutide down-regulated protein) (RIG-I-like receptor 2) (RLR-2) (RNA helicase-DEAD box protein 116)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; double-stranded RNA binding [GO:0003725]; helicase activity [GO:0004386]; identical protein binding [GO:0042802]; ribonucleoprotein complex binding [GO:0043021]; single-stranded RNA binding [GO:0003727]; zinc ion binding [GO:0008270]; cellular response to exogenous dsRNA [GO:0071360]; cytoplasmic pattern recognition receptor signaling pathway in response to virus [GO:0039528]; defense response to virus [GO:0051607]; detection of virus [GO:0009597]; innate immune response [GO:0045087]; MDA-5 signaling pathway [GO:0039530]; negative regulation of type I interferon production [GO:0032480]; positive regulation of interferon-alpha production [GO:0032727]; positive regulation of interferon-alpha secretion [GO:1902741]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of interferon-beta secretion [GO:0035549]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of response to cytokine stimulus [GO:0060760]; positive regulation of tumor necrosis factor secretion [GO:1904469]; protein deubiquitination [GO:0016579]; protein sumoylation [GO:0016925]; regulation of type III interferon production [GO:0034344]; response to virus [GO:0009615]; viral process [GO:0016032]

snps:
rs587777447 rs587777576 rs587777449 rs587777575 rs10930046 rs672601336 rs587777445 rs587777448 rs587777446 rs376048533 rs3747517 rs1990760 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BYX4-1; Sequence=Displayed; Name=2; IsoId=Q9BYX4-2; Sequence=VSP_013337, VSP_013338; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11805321, ECO:0000269|PubMed:14645903}. Nucleus {ECO:0000305}. Note=May be found in the nucleus, during apoptosis.


uniprotID: Q9Y2T5
geneSymbol: GPR52
name: G-protein coupled receptor 52
length: 361
go: ENSG00000203737;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; G protein-coupled photoreceptor activity [GO:0008020]; G protein-coupled receptor activity [GO:0004930]; cellular response to light stimulus [GO:0071482]; G protein-coupled receptor signaling pathway [GO:0007186]; locomotory behavior [GO:0007626]; phototransduction [GO:0007602]; response to drug [GO:0042493]


uniprotID: P09914
geneSymbol: IFIT1
reactome: R-HSA-1169408;R-HSA-909733;
pdb: 4HOU;5UDI;5UDJ;5UDK;5UDL;5W5H;5W5I;6C6K;
length: 478
go: ENSG00000185745;
snps: rs11553019
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19008854, ECO:0000269|PubMed:21642987}.
name:
Interferon-induced protein with tetratricopeptide repeats 1 (IFIT-1) (Interferon-induced 56 kDa protein) (IFI-56K) (P56)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; host cell [GO:0043657]; RNA binding [GO:0003723]; cellular response to exogenous dsRNA [GO:0071360]; cellular response to type I interferon [GO:0071357]; defense response to virus [GO:0051607]; intracellular transport of viral protein in host cell [GO:0019060]; negative regulation of defense response to virus by host [GO:0050689]; negative regulation of helicase activity [GO:0051097]; negative regulation of protein binding [GO:0032091]; negative regulation of viral genome replication [GO:0045071]; positive regulation of viral genome replication [GO:0045070]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P09914-1; Sequence=Displayed; Name=2; IsoId=P09914-2; Sequence=VSP_054831; Note=No experimental confirmation available.; 


uniprotID: P46095
geneSymbol: GPR6
name: G-protein coupled receptor 6 (Sphingosine 1-phosphate receptor GPR6)
length: 362
go: ENSG00000146360;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; G protein-coupled receptor activity [GO:0004930]; sphingosine-1-phosphate receptor activity [GO:0038036]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cytosolic calcium ion concentration [GO:0007204]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P46095-1; Sequence=Displayed; Name=2; IsoId=P46095-2; Sequence=VSP_055105; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:19059244}; Multi-pass membrane protein {ECO:0000305|PubMed:19059244}. Note=Detected in the intracellular compartments. It is currently unclear whether this is a cell surface or intracellular receptor.


uniprotID: Q96P69
geneSymbol: GPR78
name: G-protein coupled receptor 78
length: 363
go: ENSG00000155269;
snps: rs17844778 rs11941659 rs9685931
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: P60893
geneSymbol: GPR85
name: Probable G-protein coupled receptor 85 (Super conserved receptor expressed in brain 2)
length: 370
go: ENSG00000164604;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Endoplasmic reticulum {ECO:0000269|PubMed:25780553}.


uniprotID: Q01628
geneSymbol: IFITM3
reactome: R-HSA-909733;
length: 133
go: ENSG00000142089;
snps: rs1136853
name:
Interferon-induced transmembrane protein 3 (Dispanin subfamily A member 2b) (DSPA2b) (Interferon-inducible protein 1-8U)

sequence:
MNHTVQTFFSPVNSGQPPNYEMLKEEHEVAVLGAPHNPAPPTSTVIHIRSETSVPDHVVWSLFNTLFMNPCCLGFIAFAYSVKSRDRKMVGDVTGAQAYASTAKCLNIWALILGILMTILLIVIPVLIFQAYG

opentargets:
integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; defense response to virus [GO:0051607]; immune response [GO:0006955]; negative regulation of viral entry into host cell [GO:0046597]; negative regulation of viral genome replication [GO:0045071]; negative regulation of viral transcription [GO:0032897]; response to interferon-alpha [GO:0035455]; response to interferon-beta [GO:0035456]; response to interferon-gamma [GO:0034341]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein. Late endosome membrane; Single-pass type II membrane protein. Lysosome membrane; Single-pass type II membrane protein.


uniprotID: P01571
geneSymbol: IFNA17
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
length: 189
go: ENSG00000234829;
snps: rs9298814
location: SUBCELLULAR LOCATION: Secreted.
name:
Interferon alpha-17 (IFN-alpha-17) (Interferon alpha-88) (Interferon alpha-I') (LeIF I) (Interferon alpha-T)

sequence:
MALSFSLLMAVLVLSYKSICSLGCDLPQTHSLGNRRALILLAQMGRISPFSCLKDRHDFGLPQEEFDGNQFQKTQAISVLHEMIQQTFNLFSTEDSSAAWEQSLLEKFSTELYQQLNNLEACVIQEVGMEETPLMNEDSILAVRKYFQRITLYLTEKKYSPCAWEVVRAEIMRSLSFSTNLQKILRRKD

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]; response to virus [GO:0009615]; T cell activation involved in immune response [GO:0002286]; type I interferon signaling pathway [GO:0060337]


uniprotID: P01568
geneSymbol: IFNA21
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
name: Interferon alpha-21 (IFN-alpha-21) (Interferon alpha-F) (LeIF F)
length: 189
go: ENSG00000137080;
snps: rs1053885 rs3750478
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MALSFSLLMAVLVLSYKSICSLGCDLPQTHSLGNRRALILLAQMGRISPFSCLKDRHDFGFPQEEFDGNQFQKAQAISVLHEMIQQTFNLFSTKDSSATWEQSLLEKFSTELNQQLNDLEACVIQEVGVEETPLMNVDSILAVKKYFQRITLYLTEKKYSPCAWEVVRAEIMRSFSLSKIFQERLRRKE

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; cytokine receptor binding [GO:0005126]; 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: P01569
geneSymbol: IFNA5
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
name: Interferon alpha-5 (IFN-alpha-5) (Interferon alpha-61) (Interferon alpha-G) (LeIF G)
length: 189
go: ENSG00000147873;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MALPFVLLMALVVLNCKSICSLGCDLPQTHSLSNRRTLMIMAQMGRISPFSCLKDRHDFGFPQEEFDGNQFQKAQAISVLHEMIQQTFNLFSTKDSSATWDETLLDKFYTELYQQLNDLEACMMQEVGVEDTPLMNVDSILTVRKYFQRITLYLTEKKYSPCAWEVVRAEIMRSFSLSANLQERLRRKE

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; cytokine receptor binding [GO:0005126]; 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: P36969
geneSymbol: GPX4
reactome: R-HSA-2142688;R-HSA-2142712;R-HSA-2142770;R-HSA-9018676;R-HSA-9018896;R-HSA-9020265;R-HSA-9023661;
pdb: 2GS3;2OBI;5H5Q;5H5R;5H5S;6ELW;
length: 197
go: ENSG00000167468;
drug: DB00143;
snps: rs8178967 rs76201145
name:
Phospholipid hydroperoxide glutathione peroxidase (PHGPx) (EC 1.11.1.12) (Glutathione peroxidase 4) (GPx-4) (GSHPx-4)

sequence:
MSLGRLCRLLKPALLCGALAAPGLAGTMCASRDDWRCARSMHEFSAKDIDGHMVNLDKYRGFVCIVTNVASQUGKTEVNYTQLVDLHARYAECGLRILAFPCNQFGKQEPGSNEEIKEFAAGYNVKFDMFSKICVNGDDAHPLWKWMKIQPKGKGILGNAIKWNFTKFLIDKNGCVVKRYGPMEEPLVIEKDLPHYF

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; glutathione peroxidase activity [GO:0004602]; identical protein binding [GO:0042802]; phospholipid-hydroperoxide glutathione peroxidase activity [GO:0047066]; selenium binding [GO:0008430]; aging [GO:0007568]; chromatin organization [GO:0006325]; glutathione metabolic process [GO:0006749]; lipoxygenase pathway [GO:0019372]; long-chain fatty acid biosynthetic process [GO:0042759]; multicellular organism development [GO:0007275]; negative regulation of ferroptosis [GO:0110076]; oxidation-reduction process [GO:0055114]; phospholipid metabolic process [GO:0006644]; protein polymerization [GO:0051258]; regulation of inflammatory response [GO:0050727]; response to estradiol [GO:0032355]; response to oxidative stress [GO:0006979]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=Mitochondrial; IsoId=P36969-1; Sequence=Displayed; Name=Cytoplasmic; IsoId=P36969-2; Sequence=VSP_018740; 

location:
SUBCELLULAR LOCATION: Isoform Mitochondrial: Mitochondrion {ECO:0000250|UniProtKB:O70325}.; SUBCELLULAR LOCATION: Isoform Cytoplasmic: Cytoplasm {ECO:0000250|UniProtKB:O70325}.


uniprotID: P32881
geneSymbol: IFNA8
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
name: Interferon alpha-8 (IFN-alpha-8) (Interferon alpha-B) (LeIF B) (Interferon alpha-B2)
length: 189
go: ENSG00000120242;
snps: rs3739630
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MALTFYLLVALVVLSYKSFSSLGCDLPQTHSLGNRRALILLAQMRRISPFSCLKDRHDFEFPQEEFDDKQFQKAQAISVLHEMIQQTFNLFSTKDSSAALDETLLDEFYIELDQQLNDLESCVMQEVGVIESPLMYEDSILAVRKYFQRITLYLTEKKYSSCAWEVVRAEIMRSFSLSINLQKRLKSKE

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; cytokine receptor binding [GO:0005126]; 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: Q86WN2
geneSymbol: IFNE
name: Interferon epsilon (IFN-epsilon) (Interferon epsilon-1)
length: 208
go: ENSG00000184995;
snps: rs1125488
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
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 bacterium [GO:0042742]; 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]


uniprotID: Q8TED1
geneSymbol: GPX8
reactome: R-HSA-3299685;
pdb: 3CYN;3KIJ;
name: Probable glutathione peroxidase 8 (GPx-8) (GSHPx-8) (EC 1.11.1.9)
length: 209
go: ENSG00000164294;
drug: DB00143;
snps: rs381852
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; integral component of membrane [GO:0016021]; glutathione peroxidase activity [GO:0004602]; peroxidase activity [GO:0004601]; cellular response to oxidative stress [GO:0034599]


uniprotID: P20718
geneSymbol: GZMH
reactome: R-HSA-2022377;R-HSA-381426;
pdb: 1LXV;3TJU;3TJV;3TK9;4GAW;
length: 246
go: ENSG00000100450;
snps: rs20545
location: SUBCELLULAR LOCATION: Cytoplasmic granule. Note=Cytoplasmic granules of cytolytic T-lymphocytes.
name:
Granzyme H (EC 3.4.21.-) (CCP-X) (Cathepsin G-like 2) (CTSGL2) (Cytotoxic T-lymphocyte proteinase) (Cytotoxic serine protease C) (CSP-C)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; serine-type endopeptidase activity [GO:0004252]; apoptotic process [GO:0006915]; cytolysis [GO:0019835]; granzyme-mediated apoptotic signaling pathway [GO:0008626]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P20718-1; Sequence=Displayed; Name=2; IsoId=P20718-2; Sequence=VSP_047073; Name=3; IsoId=P20718-3; Sequence=VSP_047573; 


uniprotID: P49863
geneSymbol: GZMK
pdb: 1MZA;1MZD;
name: Granzyme K (EC 3.4.21.-) (Fragmentin-3) (Granzyme-3) (NK-tryptase-2) (NK-Tryp-2)
length: 264
go: ENSG00000113088;
location: SUBCELLULAR LOCATION: Secreted. Cytoplasmic granule.
sequence:

opentargets:
extracellular region [GO:0005576]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]


uniprotID: O15544
geneSymbol: LINC01565
name: Protein GR6
length: 149
sequence:
MKEALHQIVVRCSELVSSTSLPRLSVSRLQGPPDSQPLGTLGQGGWKLLGIVGSLAPETLGGLGTEFGPCTHPLPFDMVRERERDDELRQGWLLQCPQCARTLLCHCGPFLTPPSQTSSSGFQLCSLKPSGSLVTATEPLSNFAFSYFP


uniprotID: O75791
geneSymbol: GRAP2
reactome: R-HSA-1433557;R-HSA-202433;R-HSA-2424491;R-HSA-2871796;R-HSA-2871809;R-HSA-389356;
pdb: 5GJH;
length: 330
go: ENSG00000100351;
snps: rs12759
name:
GRB2-related adapter protein 2 (Adapter protein GRID) (GRB-2-like protein) (GRB2L) (GRBLG) (GRBX) (Grf40 adapter protein) (Grf-40) (Growth factor receptor-binding protein) (Hematopoietic cell-associated adapter protein GrpL) (P38) (Protein GADS) (SH3-SH2-SH3 adapter Mona)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome [GO:0005768]; nucleus [GO:0005634]; SH3/SH2 adaptor activity [GO:0005070]; cell-cell signaling [GO:0007267]; Fc-epsilon receptor signaling pathway [GO:0038095]; Ras protein signal transduction [GO:0007265]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75791-1; Sequence=Displayed; Name=2; IsoId=O75791-2; Sequence=VSP_055234, VSP_055235; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21179510}. Cytoplasm {ECO:0000269|PubMed:21179510}. Endosome {ECO:0000269|PubMed:21179510}.


uniprotID: Q8TC17
geneSymbol: GRAPL
name: GRB2-related adapter protein-like
length: 118
go: ENSG00000189152;
sequence:
MESVALYSFQATESDELAFNKGDTLKILNMEDDQNWYKAELRGVEGFIPKNYIRVKPHPWYSGRISRQLAEEILMKRNHLGAFLIRESESSPGEFSVSVNNRAQRGPCLGPKSHSRLG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TC17-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8TC17-2; Sequence=VSP_039172; Note=No experimental confirmation available.; 


uniprotID: Q9C091
geneSymbol: GREB1L
name: GREB1-like protein (Growth regulation by estrogen in breast cancer 1-like protein)
length: 1923
go: ENSG00000141449;
snps: rs147048716 rs1311814599 rs1343579561 rs1465443065 rs569900756 rs1336205837 rs1372640211
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; branching involved in ureteric bud morphogenesis [GO:0001658]; cardiac ventricle development [GO:0003231]; kidney development [GO:0001822]; male genitalia development [GO:0030539]; mesonephric duct development [GO:0072177]; metanephros development [GO:0001656]; paramesonephric duct development [GO:0061205]; uterus development [GO:0060065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9C091-1; Sequence=Displayed; Name=3; IsoId=Q9C091-3; Sequence=VSP_031762; Note=No experimental confirmation available.; Name=4; IsoId=Q9C091-4; Sequence=VSP_031764, VSP_031765; Note=No experimental confirmation available.; 


uniprotID: A6NFK2
geneSymbol: GRXCR2
length: 248
go: ENSG00000204928;
opentargets: microvillus [GO:0005902]; stereocilium [GO:0032420]; sensory perception of sound [GO:0007605]
snps: rs2569006
location: SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000250}.
name:
Glutaredoxin domain-containing cysteine-rich protein 2 (GRXCR1-like protein) (Glutaredoxin domain-containing cysteine-rich protein 1-like protein)

sequence:


uniprotID: Q9UQL6
geneSymbol: HDAC5
reactome: R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;R-HSA-8943724;
pdb: 5UWI;
name: Histone deacetylase 5 (HD5) (EC 3.5.1.98) (Antigen NY-CO-9)
length: 1122
go: ENSG00000108840;
drug: DB05015;DB06603;
snps: rs438096 rs33916560
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; histone deacetylase complex [GO:0000118]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; metal ion binding [GO:0046872]; NAD-dependent histone deacetylase activity (H3-K14 specific) [GO:0032041]; protein deacetylase activity [GO:0033558]; protein kinase C binding [GO:0005080]; repressing transcription factor binding [GO:0070491]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription factor binding [GO:0001085]; transcription factor binding [GO:0008134]; B cell activation [GO:0042113]; B cell differentiation [GO:0030183]; cellular response to insulin stimulus [GO:0032869]; cellular response to lipopolysaccharide [GO:0071222]; chromatin organization [GO:0006325]; chromatin remodeling [GO:0006338]; chromatin silencing [GO:0006342]; histone deacetylation [GO:0016575]; inflammatory response [GO:0006954]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; negative regulation of myotube differentiation [GO:0010832]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron differentiation [GO:0030182]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deacetylation [GO:0006476]; regulation of gene expression, epigenetic [GO:0040029]; regulation of myotube differentiation [GO:0010830]; regulation of protein binding [GO:0043393]; response to activity [GO:0014823]; response to cocaine [GO:0042220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UQL6-1; Sequence=Displayed; Name=2; IsoId=Q9UQL6-2; Sequence=VSP_002081; Note=No experimental confirmation available.; Name=3; IsoId=Q9UQL6-3; Sequence=VSP_039180; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. In muscle cells, it shuttles into the cytoplasm during myocyte differentiation. The export to cytoplasm depends on the interaction with a 14-3-3 chaperone protein and is due to its phosphorylation at Ser-259 and Ser-498 by AMPK, CaMK1 and SIK1.


uniprotID: Q7Z4V5
geneSymbol: HDGFL2
pdb: 3EAE;3QBY;3QJ6;
length: 671
opentargets: nucleus [GO:0005634]; positive regulation of cell growth [GO:0030307]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q3UMU9}.
name:
Hepatoma-derived growth factor-related protein 2 (HDGF-related protein 2) (HRP-2) (Hepatoma-derived growth factor 2) (HDGF-2)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7Z4V5-1; Sequence=Displayed; Name=2; IsoId=Q7Z4V5-2; Sequence=VSP_031116; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z4V5-3; Sequence=VSP_047329; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z4V5-4; Sequence=VSP_047329, VSP_031116; 


uniprotID: Q9UKV0
geneSymbol: HDAC9
reactome: R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;
length: 1011
go: ENSG00000048052;
drug: DB05015;DB06603;DB00313;
snps: rs1333490692
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Histone deacetylase 9 (HD9) (EC 3.5.1.98) (Histone deacetylase 7B) (HD7) (HD7b) (Histone deacetylase-related protein) (MEF2-interacting transcription repressor MITR)

sequence:

opentargets:
cytoplasm [GO:0005737]; histone deacetylase complex [GO:0000118]; histone methyltransferase complex [GO:0035097]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; metal ion binding [GO:0046872]; NAD-dependent histone deacetylase activity (H3-K14 specific) [GO:0032041]; protein deacetylase activity [GO:0033558]; protein kinase C binding [GO:0005080]; repressing transcription factor binding [GO:0070491]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; B cell activation [GO:0042113]; B cell differentiation [GO:0030183]; cellular response to insulin stimulus [GO:0032869]; heart development [GO:0007507]; histone deacetylation [GO:0016575]; histone H3 deacetylation [GO:0070932]; histone H4 deacetylation [GO:0070933]; inflammatory response [GO:0006954]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron differentiation [GO:0030182]; peptidyl-lysine deacetylation [GO:0034983]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; regulation of skeletal muscle fiber development [GO:0048742]; regulation of striated muscle cell differentiation [GO:0051153]; response to amphetamine [GO:0001975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9UKV0-1; Sequence=Displayed; Name=2; IsoId=Q9UKV0-2; Sequence=VSP_002082; Name=3; Synonyms=HDRP, MITR; IsoId=Q9UKV0-3; Sequence=VSP_002083, VSP_002084; Note=Major form in most tissues. Inactive due to lack of active site residues.; Name=4; Synonyms=HDAC9a; IsoId=Q9UKV0-4; Sequence=VSP_002085, VSP_002086; Name=5; Synonyms=HDAC9b, HDAC9fl; IsoId=Q9UKV0-5; Sequence=VSP_023768; Name=6; IsoId=Q9UKV0-6; Sequence=VSP_023766, VSP_023767, VSP_023768; Note=Excluded from the nucleus. Does not interact with ETV6. {ECO:0000305}; Name=7; IsoId=Q9UKV0-7; Sequence=VSP_023766, VSP_023768; Name=8; IsoId=Q9UKV0-8; Sequence=VSP_043428, VSP_023767, VSP_002083, VSP_002084; Note=No experimental confirmation available.; Name=9; IsoId=Q9UKV0-9; Sequence=VSP_023767, VSP_002083, VSP_002084; Name=10; IsoId=Q9UKV0-10; Sequence=VSP_046827, VSP_023766, VSP_002083, VSP_002084; Name=11; IsoId=Q9UKV0-11; Sequence=VSP_046827, VSP_046828, VSP_023767, VSP_002083, VSP_002084; 


uniprotID: Q9H0R4
geneSymbol: HDHD2
pdb: 3HLT;
name: Haloacid dehalogenase-like hydrolase domain-containing protein 2
length: 259
go: ENSG00000167220;
snps: rs7230131
sequence:

opentargets:
extracellular exosome [GO:0070062]; enzyme binding [GO:0019899]; metal ion binding [GO:0046872]; phosphatase activity [GO:0016791]; dephosphorylation [GO:0016311]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0R4-1; Sequence=Displayed; Name=2; IsoId=Q9H0R4-2; Sequence=VSP_025373; 


uniprotID: Q9BSH5
geneSymbol: HDHD3
pdb: 3K1Z;
name: Haloacid dehalogenase-like hydrolase domain-containing protein 3
length: 251
go: ENSG00000119431;
opentargets: hydrolase activity [GO:0016787]
snps: rs1043836
sequence:


uniprotID: Q86WZ0
geneSymbol: HEATR4
name: HEAT repeat-containing protein 4
length: 1026
go: ENSG00000187105;
snps: rs12894435 rs12894425 rs12894400
sequence:


uniprotID: Q8TDG4
geneSymbol: HELQ
name: Helicase POLQ-like (EC 3.6.4.12) (Mus308-like helicase) (POLQ-like helicase)
length: 1101
go: ENSG00000163312;
snps: rs6831595 rs17006837 rs6817280 rs17006794
sequence:

opentargets:
ATP binding [GO:0005524]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; double-strand break repair via homologous recombination [GO:0000724]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TDG4-1; Sequence=Displayed; Name=2; IsoId=Q8TDG4-2; Sequence=VSP_032942, VSP_032947, VSP_032948; Note=No experimental confirmation available.; Name=3; IsoId=Q8TDG4-4; Sequence=VSP_032941, VSP_032947, VSP_032948; Note=No experimental confirmation available.; Name=4; IsoId=Q8TDG4-5; Sequence=VSP_032943, VSP_032944; Note=No experimental confirmation available.; 


uniprotID: Q9Y4D8
geneSymbol: HECTD4
length: 3996
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Probable E3 ubiquitin-protein ligase HECTD4 (EC 2.3.2.26) (HECT domain-containing protein 4) (HECT-type E3 ubiquitin transferase HECTD4)

sequence:

opentargets:
integral component of membrane [GO:0016021]; ubiquitin-protein transferase activity [GO:0004842]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9Y4D8-1; Sequence=Displayed; Name=2; IsoId=Q9Y4D8-2; Sequence=VSP_034529, VSP_034530; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y4D8-3; Sequence=VSP_039452, VSP_039453, VSP_039454; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y4D8-4; Sequence=VSP_039451, VSP_039452; Note=No experimental confirmation available.; Name=5; Synonyms=POTAGE; IsoId=Q9Y4D8-5; Sequence=VSP_047465, VSP_047466, VSP_039452, VSP_039453, VSP_039454; 


uniprotID: Q9P2P5
geneSymbol: HECW2
reactome: R-HSA-983168;
pdb: 2LFE;
length: 1572
go: ENSG00000138411;
snps: rs878854416 rs878854422 rs878854417 rs878854424
name:
E3 ubiquitin-protein ligase HECW2 (EC 2.3.2.26) (HECT, C2 and WW domain-containing protein 2) (HECT-type E3 ubiquitin transferase HECW2) (NEDD4-like E3 ubiquitin-protein ligase 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitotic spindle [GO:0072686]; ubiquitin protein ligase activity [GO:0061630]; negative regulation of sodium ion transmembrane transporter activity [GO:2000650]; positive regulation of protein catabolic process [GO:0045732]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of dendrite morphogenesis [GO:0048814]; regulation of mitotic metaphase/anaphase transition [GO:0030071]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2P5-1; Sequence=Displayed; Name=2; IsoId=Q9P2P5-2; Sequence=VSP_059106, VSP_059107, VSP_059108; Note=No experimental confirmation available. 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 {ECO:0000250}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:24163370}.


uniprotID: A6NFD8
geneSymbol: HELT
name: Hairy and enhancer of split-related protein HELT (HES/HEY-like transcription factor)
length: 242
go: ENSG00000187821;
snps: rs1078461
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; microsatellite binding [GO:0035939]; protein homodimerization activity [GO:0042803]; 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]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; blood vessel development [GO:0001568]; cell differentiation [GO:0030154]; central nervous system development [GO:0007417]; GABAergic neuron differentiation in basal ganglia [GO:0021858]; gene expression [GO:0010467]; heart development [GO:0007507]; multicellular organism aging [GO:0010259]; multicellular organism growth [GO:0035264]; Notch signaling pathway [GO:0007219]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-embryonic development [GO:0009791]; regulation of neurogenesis [GO:0050767]; suckling behavior [GO:0001967]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NFD8-3; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=A6NFD8-4; Sequence=VSP_056737; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00380, ECO:0000255|PROSITE-ProRule:PRU00981}.


uniprotID: Q9BYK8
geneSymbol: HELZ2
length: 2649
go: ENSG00000130589;
snps: rs438363 rs310632 rs35817585 rs310631 rs3810487 rs3810486 rs34980032 rs3810485 rs3810483 rs3810481
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23525231}.
reactome:
R-HSA-1368082;R-HSA-1368108;R-HSA-1989781;R-HSA-2151201;R-HSA-2426168;R-HSA-381340;R-HSA-400206;R-HSA-400253;

name:
Helicase with zinc finger domain 2 (ATP-dependent helicase PRIC285) (Helicase with zinc finger 2, transcriptional coactivator) (PPAR-alpha-interacting complex protein 285) (PPAR-gamma DNA-binding domain-interacting protein 1) (PDIP1) (PPAR-gamma DBD-interacting protein 1) (Peroxisomal proliferator-activated receptor A-interacting complex 285 kDa protein) (EC 3.6.4.-)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; nuclear receptor transcription coactivator activity [GO:0030374]; RNA binding [GO:0003723]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=PDIP1-beta; IsoId=Q9BYK8-1; Sequence=Displayed; Note=More abundantly expressed than isoform 2.; Name=2; Synonyms=PDIP1-alpha; IsoId=Q9BYK8-2; Sequence=VSP_007297, VSP_007298; Name=3; IsoId=Q9BYK8-4; Sequence=VSP_017377, VSP_017378; Note=Incomplete sequence. No experimental confirmation available.; 


uniprotID: P42694
geneSymbol: HELZ
name: Probable helicase with zinc finger domain (EC 3.6.4.-) (Down-regulated in human cancers protein)
length: 1942
go: ENSG00000198265;
snps: rs2302669 rs8080100 rs11653020
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; P granule [GO:0043186]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; posttranscriptional gene silencing by RNA [GO:0035194]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P42694-1; Sequence=Displayed; Name=2; IsoId=P42694-2; Sequence=VSP_054493, VSP_054494, VSP_054495; Note=No experimental confirmation available.; 


uniprotID: Q9Y5U4
geneSymbol: INSIG2
reactome: R-HSA-1655829;
pdb: 4J82;
name: Insulin-induced gene 2 protein (INSIG-2)
length: 225
go: ENSG00000125629;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; SREBP-SCAP-Insig complex [GO:0032937]; transcription factor binding [GO:0008134]; cholesterol biosynthetic process [GO:0006695]; cranial suture morphogenesis [GO:0060363]; inner ear morphogenesis [GO:0042472]; middle ear morphogenesis [GO:0042474]; negative regulation of fatty acid biosynthetic process [GO:0045717]; negative regulation of steroid biosynthetic process [GO:0010894]; response to fatty acid [GO:0070542]; response to insulin [GO:0032868]; roof of mouth development [GO:0060021]; SREBP signaling pathway [GO:0032933]; triglyceride metabolic process [GO:0006641]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12242332}; Multi-pass membrane protein {ECO:0000269|PubMed:12242332}.


uniprotID: P51460
geneSymbol: INSL3
reactome: R-HSA-418555;R-HSA-444821;
pdb: 2H8B;2K6T;2K6U;
length: 131
go: ENSG00000248099;
snps: rs186828508 rs751299877 rs6523 rs104894697 rs104894698 rs121912556 rs121912555
location: SUBCELLULAR LOCATION: Secreted.
name:
Insulin-like 3 (Leydig insulin-like peptide) (Ley-I-L) (Relaxin-like factor) [Cleaved into: Insulin-like 3 B chain; Insulin-like 3 A chain]

sequence:
MDPRLPAWALVLLGPALVFALGPAPTPEMREKLCGHHFVRALVRVCGGPRWSTEARRPATGGDRELLQWLERRHLLHGLVADSNLTLGPGLQPLPQTSHHHRHHRAAATNPARYCCLSGCTQQDLLTLCPY

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; G protein-coupled receptor binding [GO:0001664]; hormone activity [GO:0005179]; insulin receptor binding [GO:0005158]; protease binding [GO:0002020]; signaling receptor binding [GO:0005102]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; cell-cell signaling [GO:0007267]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of wound healing [GO:0090303]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51460-1; Sequence=Displayed; Name=2; IsoId=P51460-2; Sequence=VSP_045526; Note=No experimental confirmation available.; 


uniprotID: Q96T92
geneSymbol: INSM2
name: Insulinoma-associated protein 2 (Zinc finger protein IA-6)
length: 566
go: ENSG00000168348;
snps: rs1958260
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]


uniprotID: P06213
geneSymbol: INSR
reactome: R-HSA-6811558;R-HSA-74713;R-HSA-74749;R-HSA-74751;R-HSA-74752;R-HSA-77387;
length: 1382
go: ENSG00000171105;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
pdb:
1GAG;1I44;1IR3;1IRK;1P14;1RQQ;2AUH;2B4S;2HR7;2MFR;2Z8C;3BU3;3BU5;3BU6;3EKK;3EKN;3ETA;3W11;3W12;3W13;4IBM;4OGA;4XLV;4XSS;4XST;4ZXB;5E1S;5HHW;5J3H;5KQV;5U1M;

name:
Insulin receptor (IR) (EC 2.7.10.1) (CD antigen CD220) [Cleaved into: Insulin receptor subunit alpha; Insulin receptor subunit beta]

sequence:

opentargets:
axon [GO:0030424]; caveola [GO:0005901]; cytoplasm [GO:0005737]; dendrite membrane [GO:0032590]; endosome membrane [GO:0010008]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; insulin receptor complex [GO:0005899]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; membrane [GO:0016020]; neuronal cell body membrane [GO:0032809]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; amyloid-beta binding [GO:0001540]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; identical protein binding [GO:0042802]; insulin binding [GO:0043559]; insulin receptor substrate binding [GO:0043560]; insulin-activated receptor activity [GO:0005009]; insulin-like growth factor I binding [GO:0031994]; insulin-like growth factor II binding [GO:0031995]; insulin-like growth factor receptor binding [GO:0005159]; phosphatidylinositol 3-kinase binding [GO:0043548]; protein domain specific binding [GO:0019904]; protein tyrosine kinase activity [GO:0004713]; protein-containing complex binding [GO:0044877]; PTB domain binding [GO:0051425]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; activation of MAPK activity [GO:0000187]; activation of protein kinase activity [GO:0032147]; activation of protein kinase B activity [GO:0032148]; adrenal gland development [GO:0030325]; amyloid-beta clearance [GO:0097242]; carbohydrate metabolic process [GO:0005975]; cell differentiation [GO:0030154]; cellular response to growth factor stimulus [GO:0071363]; cellular response to insulin stimulus [GO:0032869]; dendritic spine maintenance [GO:0097062]; epidermis development [GO:0008544]; exocrine pancreas development [GO:0031017]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose homeostasis [GO:0042593]; heart morphogenesis [GO:0003007]; insulin receptor signaling pathway [GO:0008286]; learning [GO:0007612]; male gonad development [GO:0008584]; male sex determination [GO:0030238]; memory [GO:0007613]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; neuron projection maintenance [GO:1990535]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of developmental growth [GO:0048639]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of glucose import [GO:0046326]; positive regulation of glycogen biosynthetic process [GO:0045725]; positive regulation of glycolytic process [GO:0045821]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of meiotic cell cycle [GO:0051446]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of protein complex disassembly [GO:0043243]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of respiratory burst [GO:0060267]; positive regulation of transcription, DNA-templated [GO:0045893]; protein autophosphorylation [GO:0046777]; protein heterotetramerization [GO:0051290]; protein phosphorylation [GO:0006468]; regulation of embryonic development [GO:0045995]; regulation of female gonad development [GO:2000194]; regulation of transcription, DNA-templated [GO:0006355]; transformation of host cell by virus [GO:0019087]

drug:
DB08513;DB05120;DB09129;DB01306;DB09564;DB01307;DB00047;DB01309;DB00030;DB00046;DB00071;DB01277;DB05115;

snps:
rs7508518 rs121913143 rs121913152 rs52836744 rs121913153 rs121913159 rs1051692 rs749094324 rs121913145 rs781007453 rs121913141 rs764221583 rs267607184 rs121913142 rs121913158 rs1051691 rs121913160 rs121913136 rs121913147 rs55906835 rs121913138 rs35045353 rs2162771 rs1135401739 rs1135401738 rs182552223 rs887190835 rs911929963 rs1799816 rs121913148 rs121913135 rs56395521 rs909008899 rs111993466 rs121913139 rs121913154 rs121913157 rs121913150 rs121913156 rs52800171 rs121913140 rs55875349 rs13306449 rs52826008 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; Synonyms=HIR-B; IsoId=P06213-1; Sequence=Displayed; Name=Short; Synonyms=HIR-A; IsoId=P06213-2; Sequence=VSP_002898; 


uniprotID: Q5TA45
geneSymbol: INTS11
reactome: R-HSA-6807505;
pdb: 5V8W;
length: 600
go: ENSG00000127054;
name:
Integrator complex subunit 11 (Int11) (EC 3.1.27.-) (Cleavage and polyadenylation-specific factor 3-like protein) (CPSF3-like protein) (Protein related to CPSF subunits of 68 kDa) (RC-68)

sequence:

opentargets:
blood microparticle [GO:0072562]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; integrator complex [GO:0032039]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; hydrolase activity [GO:0016787]; snRNA 3'-end processing [GO:0034472]; snRNA processing [GO:0016180]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q5TA45-1; Sequence=Displayed; Name=2; IsoId=Q5TA45-2; Sequence=VSP_021472; Note=No experimental confirmation available.; Name=3; IsoId=Q5TA45-3; Sequence=VSP_021473; Note=No experimental confirmation available.; Name=4; IsoId=Q5TA45-4; Sequence=VSP_045428; Name=5; IsoId=Q5TA45-5; Sequence=VSP_046643; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15684398, ECO:0000269|PubMed:23904267}. Cytoplasm {ECO:0000269|PubMed:15684398, ECO:0000269|PubMed:23904267}.


uniprotID: Q9H0H0
geneSymbol: INTS2
reactome: R-HSA-6807505;
name: Integrator complex subunit 2 (Int2)
length: 1204
go: ENSG00000108506;
snps: rs606072
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; integrator complex [GO:0032039]; intracellular [GO:0005622]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; snRNA 3'-end processing [GO:0034472]; snRNA processing [GO:0016180]; snRNA transcription by RNA polymerase II [GO:0042795]

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:16239144}; Single-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:23904267}.


uniprotID: Q96HW7
geneSymbol: INTS4
reactome: R-HSA-6807505;
name: Integrator complex subunit 4 (Int4)
length: 963
go: ENSG00000149262;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23904267}.
sequence:

opentargets:
integrator complex [GO:0032039]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; snRNA processing [GO:0016180]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96HW7-1; Sequence=Displayed; Name=2; IsoId=Q96HW7-2; Sequence=VSP_021450; Name=3; IsoId=Q96HW7-3; Sequence=VSP_021448, VSP_021449, VSP_021452, VSP_021453; Note=No experimental confirmation available.; Name=4; IsoId=Q96HW7-4; Sequence=VSP_021447, VSP_021451; Note=No experimental confirmation available.; 


uniprotID: P10746
geneSymbol: UROS
reactome: R-HSA-189451;
pdb: 1JR2;
length: 265
go: ENSG00000188690;
name:
Uroporphyrinogen-III synthase (UROIIIS) (UROS) (EC 4.2.1.75) (Hydroxymethylbilane hydrolyase [cyclizing]) (Uroporphyrinogen-III cosynthase)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; uroporphyrinogen-III synthase activity [GO:0004852]; heme biosynthetic process [GO:0006783]; protoporphyrinogen IX biosynthetic process [GO:0006782]; uroporphyrinogen III biosynthetic process [GO:0006780]

snps:
rs773301339 rs121908015 rs397515527 rs121908013 rs28941775 rs28941774 rs121908012 rs121908016 rs397515528 rs17153561 rs17173752 rs121908017 rs121908017 rs139388833 rs767029901 rs121908020 rs121908014 rs777433697 rs121908021 


uniprotID: P22830
geneSymbol: FECH
reactome: R-HSA-189451;
name: Ferrochelatase, mitochondrial (EC 4.99.1.1) (Heme synthase) (Protoheme ferro-lyase)
length: 423
go: ENSG00000066926;
drug: DB02659;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
pdb:
1HRK;2HRC;2HRE;2PNJ;2PO5;2PO7;2QD1;2QD2;2QD3;2QD4;2QD5;3AQI;3HCN;3HCO;3HCP;3HCR;3W1W;4F4D;4KLA;4KLC;4KLR;4KMM;4MK4;

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 2 iron, 2 sulfur cluster binding [GO:0051537]; ferrochelatase activity [GO:0004325]; ferrous iron binding [GO:0008198]; cellular response to dexamethasone stimulus [GO:0071549]; generation of precursor metabolites and energy [GO:0006091]; heme biosynthetic process [GO:0006783]; protoporphyrinogen IX metabolic process [GO:0046501]; response to arsenic-containing substance [GO:0046685]; response to ethanol [GO:0045471]; response to insecticide [GO:0017085]; response to lead ion [GO:0010288]; response to light stimulus [GO:0009416]; response to methylmercury [GO:0051597]; response to platinum ion [GO:0070541]

snps:
rs3848519 rs150830931 rs1041951 rs1356965294 rs1055019947 rs761962617 rs118204037 rs150146721 rs118204040 rs1324421474 rs118204039 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22830-1; Sequence=Displayed; Name=2; IsoId=P22830-2; Sequence=VSP_041208; 


uniprotID: Q02575
geneSymbol: NHLH1
length: 133
go: ENSG00000171786;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Helix-loop-helix protein 1 (HEN-1) (Class A basic helix-loop-helix protein 35) (bHLHa35) (Nescient helix loop helix 1) (NSCL-1)

sequence:
MMLNSDTMELDLPPTHSETESGFSDCGGGAGPDGAGPGGPGGGQARGPEPGEPGRKDLQHLSREERRRRRRATAKYRTAHATRERIRVEAFNLAFAELRKLLPTLPPDKKLSKIEILRLAICYISYLNHVLDV

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell differentiation [GO:0030154]; central nervous system development [GO:0007417]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q15751
geneSymbol: HERC1
reactome: R-HSA-983168;
pdb: 4O2W;4QT6;
length: 4861
go: ENSG00000103657;
name:
Probable E3 ubiquitin-protein ligase HERC1 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 1) (HECT-type E3 ubiquitin transferase HERC1) (p532) (p619)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; ubiquitin-protein transferase activity [GO:0004842]; cerebellar Purkinje cell differentiation [GO:0021702]; negative regulation of autophagy [GO:0010507]; neuromuscular process controlling balance [GO:0050885]; neuron projection development [GO:0031175]

snps:
rs1063423 rs3764187 rs36089909 rs7162519 rs16947363 rs2255243 rs2228512 rs2228510 rs35122568 rs2228513 rs7182782 rs2229749 rs2228516 rs769677823 

location:
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Cytoplasm, cytosol. Golgi apparatus. Note=Recruited onto actin-rich surface protrusions.


uniprotID: Q96HZ4
geneSymbol: HES6
length: 224
go: ENSG00000144485;
snps: rs3739061
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Transcription cofactor HES-6 (C-HAIRY1) (Class B basic helix-loop-helix protein 41) (bHLHb41) (Hairy and enhancer of split 6)

sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription coregulator activity [GO:0003712]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cell differentiation [GO:0030154]; Notch signaling pathway [GO:0007219]; regulation of neurogenesis [GO:0050767]; regulation of transcription, DNA-templated [GO:0006355]; somitogenesis [GO:0001756]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96HZ4-1; Sequence=Displayed; Name=2; IsoId=Q96HZ4-2; Sequence=VSP_011152; Note=No experimental confirmation available.; Name=3; IsoId=Q96HZ4-3; Sequence=VSP_040128; Name=4; IsoId=Q96HZ4-4; Sequence=VSP_055615, VSP_055616; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q30201
geneSymbol: HFE
reactome: R-HSA-917977;
pdb: 1A6Z;1C42;1DE4;
name: Hereditary hemochromatosis protein (HLA-H)
length: 348
go: ENSG00000010704;
sequence:

opentargets:
apical part of cell [GO:0045177]; basal part of cell [GO:0045178]; cytoplasmic vesicle [GO:0031410]; early endosome [GO:0005769]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; HFE-transferrin receptor complex [GO:1990712]; integral component of plasma membrane [GO:0005887]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; terminal web [GO:1990357]; beta-2-microglobulin binding [GO:0030881]; co-receptor binding [GO:0039706]; natural killer cell lectin-like receptor binding [GO:0046703]; signaling receptor binding [GO:0005102]; transferrin receptor binding [GO:1990459]; acute-phase response [GO:0006953]; BMP signaling pathway [GO:0030509]; cellular iron ion homeostasis [GO:0006879]; cellular response to iron ion [GO:0071281]; cellular response to iron ion starvation [GO:0010106]; female pregnancy [GO:0007565]; hormone biosynthetic process [GO:0042446]; immune response [GO:0006955]; iron ion homeostasis [GO:0055072]; iron ion import across plasma membrane [GO:0098711]; liver regeneration [GO:0097421]; multicellular organismal iron ion homeostasis [GO:0060586]; natural killer cell activation [GO:0030101]; natural killer cell mediated cytotoxicity [GO:0042267]; negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I [GO:1904283]; negative regulation of CD8-positive, alpha-beta T cell activation [GO:2001186]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of receptor binding [GO:1900121]; negative regulation of signaling receptor activity [GO:2000272]; negative regulation of T cell antigen processing and presentation [GO:0002626]; negative regulation of T cell cytokine production [GO:0002725]; negative regulation of ubiquitin-dependent protein catabolic process [GO:2000059]; positive regulation of ferrous iron binding [GO:1904434]; positive regulation of gene expression [GO:0010628]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of peptide hormone secretion [GO:0090277]; positive regulation of protein binding [GO:0032092]; positive regulation of receptor binding [GO:1900122]; positive regulation of receptor-mediated endocytosis [GO:0048260]; positive regulation of signaling receptor activity [GO:2000273]; positive regulation of transferrin receptor binding [GO:1904437]; protein-containing complex assembly [GO:0065003]; regulation of iron ion import [GO:1900390]; regulation of protein localization to cell surface [GO:2000008]; response to iron ion [GO:0010039]; response to iron ion starvation [GO:1990641]; susceptibility to natural killer cell mediated cytotoxicity [GO:0042271]; T cell mediated cytotoxicity [GO:0001913]; transferrin transport [GO:0033572]

snps:
rs149342416 rs28934889 rs111033557 rs1799945 rs1800730 rs747739169 rs28934597 rs28934596 rs28934595 rs4986950 rs62625346 rs140080192 rs1800562 rs111033563 rs143175221 rs111033558 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q30201-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; Synonyms=delE2; IsoId=Q30201-2; Sequence=VSP_003218; Name=3; Synonyms=del14E4; IsoId=Q30201-3; Sequence=VSP_003225; Name=4; Synonyms=delE214E4; IsoId=Q30201-4; Sequence=VSP_003218, VSP_003225; Name=5; IsoId=Q30201-5; Sequence=VSP_003219; Name=6; IsoId=Q30201-6; Sequence=VSP_047336, VSP_003220; Name=7; Synonyms=delE3; IsoId=Q30201-7; Sequence=VSP_003221; Name=8; Synonyms=1043-2283del,intron6ins; IsoId=Q30201-8; Sequence=VSP_003226, VSP_003227; Name=9; Synonyms=delE3-7; IsoId=Q30201-9; Sequence=VSP_003223, VSP_003224; Name=10; Synonyms=562-878del; IsoId=Q30201-10; Sequence=VSP_003222; Name=11; IsoId=Q30201-11; Sequence=VSP_043477, VSP_043478; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9465039}; Single-pass type I membrane protein {ECO:0000305|PubMed:8696333}.


uniprotID: O75146
geneSymbol: HIP1R
reactome: R-HSA-432722;R-HSA-8856828;
pdb: 1R0D;
length: 1068
go: ENSG00000130787;
snps: rs149504879 rs7972242 rs7972242 rs2271051 rs3736414
name:
Huntingtin-interacting protein 1-related protein (HIP1-related protein) (Huntingtin-interacting protein 12) (HIP-12)

sequence:

opentargets:
actin cortical patch [GO:0030479]; apical plasma membrane [GO:0016324]; clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; clathrin-coated vesicle membrane [GO:0030665]; cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; dendritic spine [GO:0043197]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; postsynaptic density [GO:0014069]; ruffle membrane [GO:0032587]; synaptic membrane [GO:0097060]; actin filament binding [GO:0051015]; clathrin adaptor activity [GO:0035615]; clathrin binding [GO:0030276]; clathrin light chain binding [GO:0032051]; identical protein binding [GO:0042802]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; SH3 domain binding [GO:0017124]; actin filament organization [GO:0007015]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; clathrin coat assembly [GO:0048268]; digestive system development [GO:0055123]; membrane organization [GO:0061024]; negative regulation of actin filament polymerization [GO:0030837]; negative regulation of apoptotic process [GO:0043066]; negative regulation of Arp2/3 complex-mediated actin nucleation [GO:0034316]; positive regulation of apoptotic process [GO:0043065]; positive regulation of clathrin coat assembly [GO:1905445]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901030]; positive regulation of platelet-derived growth factor receptor-beta signaling pathway [GO:2000588]; positive regulation of protein binding [GO:0032092]; positive regulation of receptor-mediated endocytosis [GO:0048260]; protein stabilization [GO:0050821]; receptor-mediated endocytosis [GO:0006898]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of clathrin-dependent endocytosis [GO:2000369]; regulation of endocytosis [GO:0030100]; regulation of gastric acid secretion [GO:0060453]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75146-1; Sequence=Displayed; Name=2; IsoId=O75146-2; Sequence=VSP_054238, VSP_054239; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Note=Membrane-associated protein, mainly localized at the endocytic compartments and in the perinuclear region.


uniprotID: Q13576
geneSymbol: IQGAP2
reactome: R-HSA-5626467;R-HSA-6798695;
pdb: 3IEZ;4EZA;5CJP;
name: Ras GTPase-activating-like protein IQGAP2
length: 1575
go: ENSG00000145703;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; filopodium [GO:0030175]; lamellipodium [GO:0030027]; microtubule [GO:0005874]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; Arp2/3 complex binding [GO:0071933]; calmodulin binding [GO:0005516]; GTPase inhibitor activity [GO:0005095]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; Rac GTPase binding [GO:0048365]; Rho GTPase binding [GO:0017048]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; neutrophil degranulation [GO:0043312]; signal transduction [GO:0007165]; thrombin-activated receptor signaling pathway [GO:0070493]

snps:
rs7722711 rs3822530 rs2431352 rs2909888 rs2455230 rs35366349 rs2431363 rs34950321 rs2287932 rs10454915 rs17681908 rs369078465 rs150409607 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13576-1; Sequence=Displayed; Name=2; IsoId=Q13576-2; Sequence=VSP_010629, VSP_010630, VSP_010631; Name=3; IsoId=Q13576-3; Sequence=VSP_010629, VSP_055149, VSP_010631; Note=No experimental confirmation available.; 


uniprotID: Q86VI3
geneSymbol: IQGAP3
reactome: R-HSA-5626467;
pdb: 3ISU;
name: Ras GTPase-activating-like protein IQGAP3
length: 1631
go: ENSG00000183856;
snps: rs2488269 rs11264498 rs11264496 rs744224 rs1078890 rs11804414 rs12562301
sequence:

opentargets:
cell-cell junction [GO:0005911]; cytosol [GO:0005829]; lateral plasma membrane [GO:0016328]; calmodulin binding [GO:0005516]; myosin VI light chain binding [GO:0070856]; Rho GTPase binding [GO:0017048]; activation of MAPK activity [GO:0000187]; cellular response to organic substance [GO:0071310]; ERK1 and ERK2 cascade [GO:0070371]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of gene expression [GO:0010629]; positive regulation of gene expression [GO:0010628]; positive regulation of mammary gland epithelial cell proliferation [GO:0033601]; Ras protein signal transduction [GO:0007265]; regulation of cell size [GO:0008361]; regulation of GTPase activity [GO:0043087]


uniprotID: B3KU38
geneSymbol: IQCJ-SCHIP1
name: IQCJ-SCHIP1 readthrough transcript protein
length: 563
go: ENSG00000283154;
opentargets: axon [GO:0030424]; cytoplasm [GO:0005737]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=IQCJ-SCHIP1-1; IsoId=B3KU38-1; Sequence=Displayed; Note=Based on a naturally occurring readthrough transcript which produces an IQCJ-SCHIP1 fusion protein. {ECO:0000269|PubMed:17045569}; Name=IQCJ-SCHIP1-2; IsoId=B3KU38-2; Sequence=VSP_059227; Note=Based on a naturally occurring readthrough transcript which produces an IQCJ-SCHIP1 fusion protein. {ECO:0000269|PubMed:17045569}; Name=SCHIP1-1; Synonyms=SCHIP-1, SCHIP-1a; IsoId=P0DPB3-1, Q9P0W5-1; Sequence=External; Name=SCHIP1-2; Synonyms=SCHIP-1-D241/253; IsoId=P0DPB3-2, Q9P0W5-2; Sequence=External; Name=SCHIP1-3; Synonyms=SCHIP-1-D22/253; IsoId=P0DPB3-3, Q9P0W5-3; Sequence=External; Name=SCHIP1-4; IsoId=P0DPB3-4, Q9P0W5-4; Sequence=External; Name=IQCJ-1; IsoId=Q1A5X6-1; Sequence=External; Name=IQCJ-2; IsoId=Q1A5X6-2; Sequence=External; Name=IQCJ-3; IsoId=Q1A5X6-3; Sequence=External; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, axon {ECO:0000250|UniProtKB:A0A088MLT8}. Cytoplasm {ECO:0000269|PubMed:17045569}. Note=Localizes to the axon initial segments (AIS) and nodes of Ranvier of neurons and is absent from dendrites. {ECO:0000250|UniProtKB:A0A088MLT8}.


uniprotID: Q9Y241
geneSymbol: HIGD1A
reactome: R-HSA-1234158;
pdb: 2LOM;
sequence: MSTDTGVSLPSYEEDQGSKLIRKAKEAPFVPVGIAGFAAIVAYGLYKLKSRGNTKMSIHLIHMRVAAQGFVVGAMTVGMGYSMYREFWAKPKP
length: 93
go: ENSG00000181061;
name:
HIG1 domain family member 1A, mitochondrial (Hypoxia-inducible gene 1 protein) (RCF1 homolog A) (RCF1a)

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; respiratory chain [GO:0070469]; cellular response to glucose starvation [GO:0042149]; negative regulation of apoptotic process [GO:0043066]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; oxidation-reduction process [GO:0055114]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y241-1; Sequence=Displayed; Name=2; IsoId=Q9Y241-2; Sequence=VSP_041211; 

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000255|PROSITE-ProRule:PRU00836, ECO:0000269|PubMed:22342701}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00836, ECO:0000269|PubMed:22342701}. Mitochondrion inner membrane {ECO:0000305|PubMed:22342701}.


uniprotID: Q9NQE9
geneSymbol: HINT3
name: Histidine triad nucleotide-binding protein 3 (HINT-3) (EC 3.-.-.-)
length: 182
go: ENSG00000111911;
snps: rs2295005
sequence:
MAEEQVNRSAGLAPDCEASATAETTVSSVGTCEAAGKSPEPKDYDSTCVFCRIAGRQDPGTELLHCENEDLICFKDIKPAATHHYLVVPKKHIGNCRTLRKDQVELVENMVTVGKTILERNNFTDFTNVRMGFHMPPFCSISHLHLHVLAPVDQLGFLSKLVYRVNSYWFITADHLIEKLRT

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; hydrolase activity [GO:0016787]; nucleotide binding [GO:0000166]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17870088}. Nucleus {ECO:0000269|PubMed:17870088}. Note=Localized as aggregates in the cytoplasm and the nucleus.


uniprotID: Q4VC39
geneSymbol: HIGD2B
name: Putative HIG1 domain family member 2B (HIG1 domain family member 2B pseudogene)
length: 106
opentargets: integral component of membrane [GO:0016021]
sequence:
MATLGFVTPEAPFESSKPPIFEGLSPTVYSNPEGFKEKFLRKTRENPVVPIGFLCTAAVLTNGLYCFHQGNSQCSRLMMHTQIAAQGFTIAAILLGLAATAMKSPP

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000255|PROSITE-ProRule:PRU00836}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00836}.


uniprotID: P78412
geneSymbol: IRX6
name: Iroquois-class homeodomain protein IRX-6 (Homeodomain protein IRXB3) (Iroquois homeobox protein 6)
length: 446
go: ENSG00000159387;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q96AZ6
geneSymbol: ISG20
reactome: R-HSA-909733;
pdb: 1WLJ;
length: 181
go: ENSG00000172183;
drug: DB03685;
location: SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Cytoplasm. Nucleus, Cajal body.
name:
Interferon-stimulated gene 20 kDa protein (EC 3.1.13.1) (Estrogen-regulated transcript 45 protein) (Promyelocytic leukemia nuclear body-associated protein ISG20)

sequence:
MAGSREVVAMDCEMVGLGPHRESGLARCSLVNVHGAVLYDKFIRPEGEITDYRTRVSGVTPQHMVGATPFAVARLEILQLLKGKLVVGHDLKHDFQALKEDMSGYTIYDTSTDRLLWREAKLDHCRRVSLRVLSERLLHKSIQNSLLGHSSVEDARATMELYQISQRIRARRGLPRLAVSD

opentargets:
Cajal body [GO:0015030]; cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; 3'-5'-exoribonuclease activity [GO:0000175]; exonuclease activity [GO:0004527]; exoribonuclease II activity [GO:0008859]; metal ion binding [GO:0046872]; single-stranded DNA 3'-5' exodeoxyribonuclease activity [GO:0008310]; U1 snRNA binding [GO:0030619]; U2 snRNA binding [GO:0030620]; U3 snoRNA binding [GO:0034511]; cell proliferation [GO:0008283]; defense response to virus [GO:0051607]; DNA catabolic process, exonucleolytic [GO:0000738]; negative regulation of viral genome replication [GO:0045071]; response to virus [GO:0009615]; RNA catabolic process [GO:0006401]; rRNA processing [GO:0006364]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96AZ6-1; Sequence=Displayed; Name=2; IsoId=Q96AZ6-2; Sequence=VSP_012429, VSP_012430; Note=No experimental confirmation available.; 


uniprotID: P20155
geneSymbol: SPINK2
pdb: 2JXD;
sequence: MALSVLRLALLLLAVTFAASLIPQFGLFSKYRTPNCSQYRLPGCPRHFNPVCGSDMSTYANECTLCMKIREGGHNIKIIRNGPC
length: 84
go: ENSG00000128040;
location: SUBCELLULAR LOCATION: Secreted.
name:
Serine protease inhibitor Kazal-type 2 (Acrosin-trypsin inhibitor) (Epididymis tissue protein Li 172) (HUSI-II)

opentargets:
acrosomal vesicle [GO:0001669]; extracellular region [GO:0005576]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase inhibitor activity [GO:0004867]; negative regulation of serine-type endopeptidase activity [GO:1900004]; spermatogenesis [GO:0007283]


uniprotID: Q9UN88
geneSymbol: GABRQ
reactome: R-HSA-112314;R-HSA-977441;
name: Gamma-aminobutyric acid receptor subunit theta (GABA(A) receptor subunit theta)
length: 632
snps: rs4996045 rs3810651
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; GABA-A receptor complex [GO:1902711]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; receptor complex [GO:0043235]; synapse [GO:0045202]; chloride channel activity [GO:0005254]; extracellular ligand-gated ion channel activity [GO:0005230]; GABA-A receptor activity [GO:0004890]; neurotransmitter transporter activity [GO:0005326]; transmembrane signaling receptor activity [GO:0004888]; 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;DB00404;DB00543;DB01558;DB00237;DB00241;DB00475;DB00349;DB01068;DB00628;DB01189;DB00829;DB00228;DB01049;DB01215;DB00402;DB00898;DB00189;DB00292;DB01205;DB00690;DB01437;DB00801;DB01159;DB00753;DB00186;DB00371;DB00463;DB01028;DB01107;DB00683;DB01595;DB00334;DB00842;DB00312;DB01708;DB01588;DB00794;DB00818;DB01589;DB01236;DB00306;DB00231;DB11582;DB00273;DB00897;


uniprotID: P50151
geneSymbol: GNG10
name: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10
sequence: MSSGASASALQRLVEQLKLEAGVERIKVSQAAAELQQYCMQNACKDALLVGVPAGSNPFREPRSCALL
length: 68
go: ENSG00000242616;
opentargets:
heterotrimeric G-protein complex [GO:0005834]; plasma membrane [GO:0005886]; GTPase activity [GO:0003924]; G protein-coupled receptor signaling pathway [GO:0007186]; signal transduction [GO:0007165]


uniprotID: P52565
geneSymbol: ARHGDIA
reactome: R-HSA-193634;R-HSA-194840;R-HSA-209563;
name: Rho GDP-dissociation inhibitor 1 (Rho GDI 1) (Rho-GDI alpha)
length: 204
go: ENSG00000141522;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23434736}.
pdb:
1CC0;1FSO;1FST;1FT0;1FT3;1HH4;1KMT;1QVY;1RHO;2BXW;2JHS;2JHT;2JHU;2JHV;2JHW;2JHX;2JHY;2JHZ;2JI0;2N80;

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; GTPase activator activity [GO:0005096]; Rac GTPase binding [GO:0048365]; Rho GDP-dissociation inhibitor activity [GO:0005094]; negative regulation of apoptotic process [GO:0043066]; negative regulation of axonogenesis [GO:0050771]; negative regulation of cell adhesion [GO:0007162]; positive regulation of axonogenesis [GO:0050772]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]; semaphorin-plexin signaling pathway [GO:0071526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P52565-1; Sequence=Displayed; Name=2; IsoId=P52565-2; Sequence=VSP_046699; 


uniprotID: O14793
geneSymbol: MSTN
pdb: 5F3B;5F3H;5NTU;5NXS;
name: Growth/differentiation factor 8 (GDF-8) (Myostatin)
length: 375
go: ENSG00000138379;
drug: DB05915;
snps: rs1805085 rs1805086 rs34780010 rs16823988
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:O08689}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; transforming growth factor beta receptor binding [GO:0005160]; cell development [GO:0048468]; cellular response to dexamethasone stimulus [GO:0071549]; muscle cell cellular homeostasis [GO:0046716]; muscle organ development [GO:0007517]; myoblast migration involved in skeletal muscle regeneration [GO:0014839]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of kinase activity [GO:0033673]; negative regulation of muscle hypertrophy [GO:0014741]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of myoblast proliferation [GO:2000818]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of satellite cell differentiation [GO:1902725]; negative regulation of skeletal muscle satellite cell proliferation [GO:1902723]; negative regulation of skeletal muscle tissue growth [GO:0048632]; ovulation cycle process [GO:0022602]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of macrophage chemotaxis [GO:0010759]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; response to electrical stimulus [GO:0051602]; response to estrogen [GO:0043627]; response to ethanol [GO:0045471]; response to gravity [GO:0009629]; response to heat [GO:0009408]; response to muscle activity [GO:0014850]; response to testosterone [GO:0033574]; skeletal muscle atrophy [GO:0014732]; SMAD protein signal transduction [GO:0060395]; transforming growth factor beta receptor signaling pathway [GO:0007179]


uniprotID: Q96IJ6
geneSymbol: GMPPA
reactome: R-HSA-446205;
length: 420
go: ENSG00000144591;
snps: rs34218609 rs13396066 rs397518462 rs774778439 rs397518461 rs1467274040
name:
Mannose-1-phosphate guanyltransferase alpha (GDP-mannose pyrophosphorylase A) (GMPP-alpha) (GTP-mannose-1-phosphate guanylyltransferase alpha)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nucleotidyltransferase activity [GO:0016779]; biosynthetic process [GO:0009058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IJ6-1; Sequence=Displayed; Name=2; IsoId=Q96IJ6-2; Sequence=VSP_032741; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24035193}. Note=Myc-tagged GMPPA shows a diffuse cytoplasmic and nuclear pattern in transfected COS-7 cells.


uniprotID: P36959
geneSymbol: GMPR
reactome: R-HSA-74217;
pdb: 2BLE;2BWG;
length: 345
go: ENSG00000137198;
drug: DB01972;
snps: rs760571328 rs1042391
name:
GMP reductase 1 (GMPR 1) (EC 1.7.1.7) (Guanosine 5'-monophosphate oxidoreductase 1) (Guanosine monophosphate reductase 1)

sequence:

opentargets:
cytosol [GO:0005829]; GMP reductase complex [GO:1902560]; GMP reductase activity [GO:0003920]; metal ion binding [GO:0046872]; purine nucleobase metabolic process [GO:0006144]; purine ribonucleotide interconversion [GO:0015951]; purine-containing compound salvage [GO:0043101]; response to cold [GO:0009409]


uniprotID: Q9P2T1
geneSymbol: GMPR2
reactome: R-HSA-74217;
pdb: 2A7R;2BZN;2C6Q;
length: 348
go: ENSG00000100938;
snps: rs34354104
name:
GMP reductase 2 (GMPR 2) (EC 1.7.1.7) (Guanosine 5'-monophosphate oxidoreductase 2) (Guanosine monophosphate reductase 2)

sequence:

opentargets:
cytosol [GO:0005829]; GMP reductase complex [GO:1902560]; GMP reductase activity [GO:0003920]; metal ion binding [GO:0046872]; GMP metabolic process [GO:0046037]; purine nucleobase metabolic process [GO:0006144]; purine ribonucleotide interconversion [GO:0015951]; purine-containing compound salvage [GO:0043101]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P2T1-1; Sequence=Displayed; Name=2; IsoId=Q9P2T1-2; Sequence=VSP_041459; Name=3; IsoId=Q9P2T1-3; Sequence=VSP_054585; Note=No experimental confirmation available.; 


uniprotID: P29992
geneSymbol: GNA11
reactome: R-HSA-399997;R-HSA-416476;R-HSA-418592;R-HSA-428930;R-HSA-434316;R-HSA-456926;
length: 359
go: ENSG00000088256;
snps: rs587777021 rs587777019 rs587777020 rs587777022 rs140749796
name:
Guanine nucleotide-binding protein subunit alpha-11 (G alpha-11) (G-protein subunit alpha-11) (Guanine nucleotide-binding protein G(y) subunit alpha)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; heterotrimeric G-protein complex [GO:0005834]; lysosomal membrane [GO:0005765]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; G protein-coupled receptor binding [GO:0001664]; G-protein beta/gamma-subunit complex binding [GO:0031683]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; type 2A serotonin receptor binding [GO:0031826]; action potential [GO:0001508]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cellular response to pH [GO:0071467]; developmental pigmentation [GO:0048066]; entrainment of circadian clock [GO:0009649]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; G protein-coupled receptor signaling pathway [GO:0007186]; heart development [GO:0007507]; phospholipase C-activating dopamine receptor signaling pathway [GO:0060158]; phototransduction, visible light [GO:0007603]; platelet activation [GO:0030168]; regulation of melanocyte differentiation [GO:0045634]; signal transduction [GO:0007165]; skeletal system development [GO:0001501]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:18703424}; Lipid-anchor {ECO:0000305|PubMed:18703424}. Cytoplasm {ECO:0000269|PubMed:18703424}. Note=In testicular cells, expressed exclusively in the cytoplasm.


uniprotID: Q03113
geneSymbol: GNA12
reactome: R-HSA-416482;R-HSA-456926;
name: Guanine nucleotide-binding protein subunit alpha-12 (G alpha-12) (G-protein subunit alpha-12)
length: 381
go: ENSG00000146535;
snps: rs11552939 rs45606633 rs45583847
sequence:

opentargets:
brush border membrane [GO:0031526]; cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; heterotrimeric G-protein complex [GO:0005834]; lateral plasma membrane [GO:0016328]; plasma membrane [GO:0005886]; D5 dopamine receptor binding [GO:0031752]; G protein-coupled receptor binding [GO:0001664]; G-protein beta/gamma-subunit complex binding [GO:0031683]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; blood coagulation [GO:0007596]; cell differentiation [GO:0030154]; embryonic digit morphogenesis [GO:0042733]; G protein-coupled receptor signaling pathway [GO:0007186]; in utero embryonic development [GO:0001701]; platelet activation [GO:0030168]; regulation of cell shape [GO:0008360]; regulation of fibroblast migration [GO:0010762]; regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032434]; regulation of TOR signaling [GO:0032006]; response to drug [GO:0042493]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=3;  Name=1; IsoId=Q03113-1; Sequence=Displayed; Name=2; IsoId=Q03113-2; Sequence=VSP_055171; Name=3; IsoId=Q03113-3; Sequence=VSP_055230, VSP_055231; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15240885, ECO:0000269|PubMed:15980433}; Lipid-anchor {ECO:0000250|UniProtKB:Q63210}. Lateral cell membrane {ECO:0000269|PubMed:15525651}; Lipid-anchor {ECO:0000250|UniProtKB:Q63210}. Cytoplasm {ECO:0000269|PubMed:15240885}. Note=CDH1 enhances cell membrane localization. {ECO:0000269|PubMed:15240885}.


uniprotID: Q5JWF2
geneSymbol: GNAS
length: 1037
go: ENSG00000087460;
snps: rs61749698 rs148033592 rs8986
reactome:
R-HSA-163359;R-HSA-164378;R-HSA-381676;R-HSA-392851;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-420092;R-HSA-432040;R-HSA-5610787;

name:
Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas (Adenylate cyclase-stimulating G alpha protein) (Extra large alphas protein) (XLalphas)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; heterotrimeric G-protein complex [GO:0005834]; membrane [GO:0016020]; beta-2 adrenergic receptor binding [GO:0031698]; corticotropin-releasing hormone receptor 1 binding [GO:0051430]; D1 dopamine receptor binding [GO:0031748]; G protein-coupled receptor binding [GO:0001664]; G-protein beta/gamma-subunit complex binding [GO:0031683]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; insulin-like growth factor receptor binding [GO:0005159]; ionotropic glutamate receptor binding [GO:0035255]; metal ion binding [GO:0046872]; mu-type opioid receptor binding [GO:0031852]; adenylate cyclase-activating dopamine receptor signaling pathway [GO:0007191]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; bone development [GO:0060348]; cartilage development [GO:0051216]; developmental growth [GO:0048589]; DNA methylation [GO:0006306]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic hindlimb morphogenesis [GO:0035116]; endochondral ossification [GO:0001958]; energy reserve metabolic process [GO:0006112]; genetic imprinting [GO:0071514]; multicellular organism growth [GO:0035264]; platelet aggregation [GO:0070527]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of osteoclast differentiation [GO:0045672]; post-embryonic body morphogenesis [GO:0040032]; regulation of parathyroid hormone secretion [GO:2000828]; response to drug [GO:0042493]; skin development [GO:0043588]; tissue homeostasis [GO:0001894]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=XLas-1; IsoId=Q5JWF2-1; Sequence=Displayed; Note=Gene prediction confirmed by EST data. {ECO:0000305}; Name=XLas-2; IsoId=Q5JWF2-2; Sequence=VSP_052174; Note=Gene prediction confirmed by EST data. {ECO:0000305}; Name=XLas-3; IsoId=Q5JWF2-3; Sequence=VSP_052173, VSP_052175; Name=Gnas-1 {ECO:0000305}; Synonyms=Alpha-S2 {ECO:0000305}, GNASl {ECO:0000305}, Alpha-S-long {ECO:0000305}; IsoId=P63092-1, P04895-1; Sequence=External; Name=3; IsoId=P63092-3; Sequence=External; Note=No experimental confirmation available.; Name=Gnas-2 {ECO:0000305}; Synonyms=Alpha-S1 {ECO:0000305}, GNASs {ECO:0000305}, Alpha-S-short {ECO:0000305}; IsoId=P63092-2, P04895-2; Sequence=External; Name=Nesp55 {ECO:0000305}; IsoId=O95467-1; Sequence=External; Note=Shares no sequence similarity with other isoforms due to a novel first exon containing the entire reading frame spliced to shared exon 2 so that exons 2-13 make up the 3'-UTR.; Name=4; IsoId=P63092-4; Sequence=External; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27120771}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q63803}. Apical cell membrane {ECO:0000269|PubMed:27120771}.


uniprotID: P30679
geneSymbol: GNA15
reactome: R-HSA-399997;R-HSA-416476;R-HSA-418592;R-HSA-428930;R-HSA-434316;R-HSA-456926;
length: 374
snps: rs310680
name:
Guanine nucleotide-binding protein subunit alpha-15 (G alpha-15) (G-protein subunit alpha-15) (Epididymis tissue protein Li 17E) (Guanine nucleotide-binding protein subunit alpha-16) (G alpha-16) (G-protein subunit alpha-16)

sequence:

opentargets:
heterotrimeric G-protein complex [GO:0005834]; plasma membrane [GO:0005886]; G protein-coupled receptor binding [GO:0001664]; G-protein beta/gamma-subunit complex binding [GO:0031683]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; activation of phospholipase C activity [GO:0007202]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; G protein-coupled receptor signaling pathway [GO:0007186]; phospholipase C-activating dopamine receptor signaling pathway [GO:0060158]; phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway [GO:0007207]; platelet activation [GO:0030168]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]


