# annotation

uniprotID: P01185
geneSymbol: AVP
length: 164
go: ENSG00000101200;
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-1368108;R-HSA-388479;R-HSA-416476;R-HSA-418555;R-HSA-432040;R-HSA-5619099;R-HSA-879518;R-HSA-8856825;R-HSA-8856828;R-HSA-9036092;

name:
Vasopressin-neurophysin 2-copeptin (AVP-NPII) [Cleaved into: Arg-vasopressin (Arginine-vasopressin); Neurophysin 2 (Neurophysin-II); Copeptin]

sequence:
MPDTMLPACFLGLLAFSSACYFQNCPRGGKRAMSDLELRQCLPCGPGGKGRCFGPSICCADELGCFVGTAEALRCQEENYLPSPCQSGQKACGSGGRCAAFGVCCNDESCVTEPECREGFHRRARASDRSNATQLDGPAGALLLRLVQLAGAPEPFEPAQPDAY

opentargets:
clathrin-coated vesicle membrane [GO:0030665]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; neurohypophyseal hormone activity [GO:0005185]; neuropeptide hormone activity [GO:0005184]; protein kinase activity [GO:0004672]; signaling receptor binding [GO:0005102]; V1A vasopressin receptor binding [GO:0031894]; V1B vasopressin receptor binding [GO:0031895]; cell-cell signaling [GO:0007267]; ERK1 and ERK2 cascade [GO:0070371]; G protein-coupled receptor signaling pathway [GO:0007186]; generation of precursor metabolites and energy [GO:0006091]; grooming behavior [GO:0007625]; hyperosmotic salinity response [GO:0042538]; locomotory behavior [GO:0007626]; maternal aggressive behavior [GO:0002125]; maternal behavior [GO:0042711]; membrane organization [GO:0061024]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of female receptivity [GO:0007621]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; negative regulation of transmission of nerve impulse [GO:0051970]; penile erection [GO:0043084]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular pH reduction [GO:0032849]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of gene expression [GO:0010628]; positive regulation of glutamate secretion [GO:0014049]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of prostaglandin biosynthetic process [GO:0031394]; positive regulation of systemic arterial blood pressure [GO:0003084]; positive regulation of vasoconstriction [GO:0045907]; protein kinase C signaling [GO:0070528]; regulation of renal sodium excretion [GO:0035813]; renal water homeostasis [GO:0003091]; response to ethanol [GO:0045471]; response to nicotine [GO:0035094]; response to testosterone [GO:0033574]; signal transduction [GO:0007165]; social behavior [GO:0035176]; vasoconstriction [GO:0042310]; water transport [GO:0006833]

snps:
rs387906511 rs387906512 rs121964893 rs142886338 rs121964883 rs121964888 rs121964887 rs28934878 rs5195 rs121964890 rs121964882 rs121964891 rs121964885 rs121964886 rs74315383 rs1051744 


uniprotID: Q9BYT8
geneSymbol: NLN
reactome: R-HSA-375276;
pdb: 5LUZ;5LV0;
length: 704
go: ENSG00000123213;
snps: rs34339013 rs34063558 rs6863012 rs2289884 rs6860508
location: SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000250}. Cytoplasm {ECO:0000250}.
name:
Neurolysin, mitochondrial (EC 3.4.24.16) (Angiotensin-binding protein) (Microsomal endopeptidase) (MEP) (Mitochondrial oligopeptidase M) (Neurotensin endopeptidase)

sequence:

opentargets:
extracellular region [GO:0005576]; mitochondrial intermembrane space [GO:0005758]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; peptide binding [GO:0042277]; peptide metabolic process [GO:0006518]; proteolysis [GO:0006508]; regulation of gluconeogenesis [GO:0006111]; regulation of skeletal muscle fiber differentiation [GO:1902809]


uniprotID: Q16236
geneSymbol: NFE2L2
pdb: 2FLU;2LZ1;3ZGC;4IFL;
length: 605
go: ENSG00000116044;
snps: rs35248500 rs5031039 rs34154613
name:
Nuclear factor erythroid 2-related factor 2 (NF-E2-related factor 2) (NFE2-related factor 2) (HEBP1) (Nuclear factor, erythroid derived 2, like 2)

sequence:

opentargets:
centrosome [GO:0005813]; chromatin [GO:0000785]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-DNA complex [GO:0032993]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein domain specific binding [GO:0019904]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; transcription cofactor binding [GO:0001221]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; aflatoxin catabolic process [GO:0046223]; aging [GO:0007568]; cell redox homeostasis [GO:0045454]; cellular response to angiotensin [GO:1904385]; cellular response to fluid shear stress [GO:0071498]; cellular response to glucose starvation [GO:0042149]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to laminar fluid shear stress [GO:0071499]; cellular response to oxidative stress [GO:0034599]; cellular response to tumor necrosis factor [GO:0071356]; endoplasmic reticulum unfolded protein response [GO:0030968]; inflammatory response [GO:0006954]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of hematopoietic stem cell differentiation [GO:1902037]; negative regulation of hydrogen peroxide-induced cell death [GO:1903206]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; negative regulation of vascular associated smooth muscle cell migration [GO:1904753]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood coagulation [GO:0030194]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of ER-associated ubiquitin-dependent protein catabolic process [GO:1903071]; positive regulation of gene expression [GO:0010628]; positive regulation of glucose import [GO:0046326]; positive regulation of glutathione biosynthetic process [GO:1903788]; positive regulation of neuron projection development [GO:0010976]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061419]; positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress [GO:0036091]; positive regulation of transcription from RNA polymerase II promoter in response to stress [GO:0036003]; positive regulation of transcription, DNA-templated [GO:0045893]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein ubiquitination [GO:0016567]; regulation of embryonic development [GO:0045995]; regulation of removal of superoxide radicals [GO:2000121]; transcription by RNA polymerase II [GO:0006366]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16236-1; Sequence=Displayed; Name=2; IsoId=Q16236-2; Sequence=VSP_025045; Name=3; IsoId=Q16236-3; Sequence=VSP_025045, VSP_046168; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11035812, ECO:0000269|PubMed:21196497}. Nucleus {ECO:0000269|PubMed:11035812, ECO:0000269|PubMed:21196497}. Note=Cytosolic under unstressed conditions, translocates into the nucleus upon induction by electrophilic agents. {ECO:0000269|PubMed:21196497}.


uniprotID: Q9NXR1
geneSymbol: NDE1
name: Nuclear distribution protein nudE homolog 1 (NudE)
length: 335
go: ENSG00000072864;
reactome:
R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5663220;R-HSA-68877;R-HSA-8854518;

sequence:

opentargets:
centrosome [GO:0005813]; cleavage furrow [GO:0032154]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; kinetochore [GO:0000776]; membrane [GO:0016020]; microtubule [GO:0005874]; spindle pole centrosome [GO:0031616]; synapse [GO:0045202]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; protein domain specific binding [GO:0019904]; cell division [GO:0051301]; cell migration [GO:0016477]; centrosome duplication [GO:0051298]; centrosome localization [GO:0051642]; cerebral cortex development [GO:0021987]; chromosome segregation [GO:0007059]; ciliary basal body-plasma membrane docking [GO:0097711]; establishment of chromosome localization [GO:0051303]; establishment of mitotic spindle orientation [GO:0000132]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule nucleation [GO:0007020]; mitotic centrosome separation [GO:0007100]; neuroblast proliferation [GO:0007405]; neuron migration [GO:0001764]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of microtubule motor activity [GO:2000574]; vesicle transport along microtubule [GO:0047496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXR1-2; Sequence=Displayed; Name=2; IsoId=Q9NXR1-1; Sequence=VSP_059512; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Note=Localizes to the interphase and S phase centrosome. During mitosis, partially associated with the mitotic spindle. Concentrates at the plus ends of microtubules coincident with kinetochores in metaphase and anaphase in a CENPF-dependent manner. Also localizes to the cleavage furrow during cytokinesis. manner. Also localizes to the cleavage furrow during cytokinesis.


uniprotID: Q9Y3R4
geneSymbol: NEU2
reactome: R-HSA-1660662;R-HSA-4085001;
pdb: 1SNT;1SO7;1VCU;2F0Z;2F10;2F11;2F12;2F13;2F24;2F25;2F26;2F27;2F28;2F29;4NC5;4NCS;
name: Sialidase-2 (EC 3.2.1.18) (Cytosolic sialidase) (N-acetyl-alpha-neuraminidase 2)
length: 380
go: ENSG00000115488;
drug: DB00198;DB00558;
snps: rs2233384 rs2233385 rs2233390 rs2233391 rs2233393
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
catalytic complex [GO:1902494]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; exo-alpha-(2->3)-sialidase activity [GO:0052794]; exo-alpha-(2->6)-sialidase activity [GO:0052795]; exo-alpha-(2->8)-sialidase activity [GO:0052796]; exo-alpha-sialidase activity [GO:0004308]; cellular oligosaccharide catabolic process [GO:0051692]; ganglioside catabolic process [GO:0006689]; glycosphingolipid metabolic process [GO:0006687]; oligosaccharide catabolic process [GO:0009313]


uniprotID: Q8TDF5
geneSymbol: NETO1
length: 533
go: ENSG00000166342;
snps: rs922999 rs17086286
name:
Neuropilin and tolloid-like protein 1 (Brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 1)

sequence:

opentargets:
cell junction [GO:0030054]; excitatory synapse [GO:0060076]; extracellular region [GO:0005576]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; postsynaptic density [GO:0014069]; postsynaptic density membrane [GO:0098839]; ionotropic glutamate receptor binding [GO:0035255]; memory [GO:0007613]; positive regulation of excitatory postsynaptic potential [GO:2000463]; receptor localization to synapse [GO:0097120]; regulation of kainate selective glutamate receptor activity [GO:2000312]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q8TDF5-3; Sequence=Displayed; Name=1; Synonyms=Soluble, sNETO1; IsoId=Q8TDF5-1; Sequence=VSP_012853, VSP_012854, VSP_012855; Name=2; IsoId=Q8TDF5-2; Sequence=VSP_012853; 

location:
SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Note=Component of the postsynaptic density (PSD) of excitatory synapses. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 1: Secreted {ECO:0000305}.


uniprotID: P07093
geneSymbol: SERPINE2
reactome: R-HSA-140837;R-HSA-140875;R-HSA-75205;
pdb: 4DY0;4DY7;
length: 398
go: ENSG00000135919;
snps: rs3795875
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
name:
Glia-derived nexin (GDN) (Peptidase inhibitor 7) (PI-7) (Protease nexin 1) (PN-1) (Protease nexin I) (Serpin E2)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; extrinsic component of external side of plasma membrane [GO:0031232]; neuromuscular junction [GO:0031594]; platelet alpha granule [GO:0031091]; glycosaminoglycan binding [GO:0005539]; heparin binding [GO:0008201]; serine-type endopeptidase inhibitor activity [GO:0004867]; signaling receptor binding [GO:0005102]; blood coagulation [GO:0007596]; cerebellar granular layer morphogenesis [GO:0021683]; detection of mechanical stimulus involved in sensory perception [GO:0050974]; innervation [GO:0060384]; long-term synaptic potentiation [GO:0060291]; mating plug formation [GO:0042628]; negative regulation of blood coagulation [GO:0030195]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of phosphatidylinositol 3-kinase signaling [GO:0014067]; negative regulation of plasminogen activation [GO:0010757]; negative regulation of platelet aggregation [GO:0090331]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of protein processing [GO:0010955]; negative regulation of proteolysis [GO:0045861]; negative regulation of smoothened signaling pathway [GO:0045879]; negative regulation of sodium ion transport [GO:0010766]; positive regulation of astrocyte differentiation [GO:0048711]; regulation of cell migration [GO:0030334]; regulation of synaptic transmission, glutamatergic [GO:0051966]; regulation of timing of cell differentiation [GO:0048505]; secretion by cell [GO:0032940]; secretory granule organization [GO:0033363]; seminal vesicle epithelium development [GO:0061108]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P07093-1; Sequence=Displayed; Name=2; IsoId=P07093-2; Sequence=VSP_038367; Name=3; IsoId=P07093-3; Sequence=VSP_043668, VSP_038367; Note=No experimental confirmation available.; 


uniprotID: Q8TB36
geneSymbol: GDAP1
name: Ganglioside-induced differentiation-associated protein 1 (GDAP1)
length: 358
go: ENSG00000104381;
sequence:

opentargets:
cytosol [GO:0005829]; integral component of mitochondrial outer membrane [GO:0031307]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; cellular response to vitamin D [GO:0071305]; mitochondrial fission [GO:0000266]; mitochondrial fusion [GO:0008053]; mitochondrion organization [GO:0007005]; protein targeting to mitochondrion [GO:0006626]; response to retinoic acid [GO:0032526]

snps:
rs1174933176 rs104894078 rs397515442 rs879254005 rs397515441 rs104894076 rs121908113 rs267606842 rs1476856429 rs28937906 rs375431837 rs538389475 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TB36-1; Sequence=Displayed; Name=2; IsoId=Q8TB36-2; Sequence=VSP_038393; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:15772096, ECO:0000269|PubMed:16172208, ECO:0000269|PubMed:16857173}; Multi-pass membrane protein {ECO:0000269|PubMed:16172208}. Cytoplasm {ECO:0000250|UniProtKB:O88741}.


uniprotID: O95749
geneSymbol: GGPS1
reactome: R-HSA-191273;R-HSA-2426168;
pdb: 2Q80;6C56;6C57;
length: 300
go: ENSG00000152904;
drug: DB07410;DB07780;DB04695;DB02552;DB07841;DB04714;DB00399;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Geranylgeranyl pyrophosphate synthase (GGPP synthase) (GGPPSase) (EC 2.5.1.-) ((2E,6E)-farnesyl diphosphate synthase) (Dimethylallyltranstransferase) (EC 2.5.1.1) (Farnesyl diphosphate synthase) (Farnesyltranstransferase) (EC 2.5.1.29) (Geranylgeranyl diphosphate synthase) (Geranyltranstransferase) (EC 2.5.1.10)

sequence:

opentargets:
cytosol [GO:0005829]; dimethylallyltranstransferase activity [GO:0004161]; farnesyltranstransferase activity [GO:0004311]; geranyltranstransferase activity [GO:0004337]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; cholesterol biosynthetic process [GO:0006695]; farnesyl diphosphate biosynthetic process [GO:0045337]; geranyl diphosphate biosynthetic process [GO:0033384]; geranylgeranyl diphosphate biosynthetic process [GO:0033386]; isoprenoid metabolic process [GO:0006720]; regulation of cholesterol biosynthetic process [GO:0045540]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95749-1; Sequence=Displayed; Name=2; IsoId=O95749-2; Sequence=VSP_056578; Note=No experimental confirmation available.; 


uniprotID: O60609
geneSymbol: GFRA3
reactome: R-HSA-5673001;R-HSA-8853659;
pdb: 2GH0;
name: GDNF family receptor alpha-3 (GDNF receptor alpha-3) (GDNFR-alpha-3) (GFR-alpha-3)
length: 400
go: ENSG00000146013;
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; extrinsic component of membrane [GO:0019898]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; axon guidance receptor activity [GO:0008046]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor binding [GO:0005102]; axon guidance [GO:0007411]; MAPK cascade [GO:0000165]; nervous system development [GO:0007399]; neuron migration [GO:0001764]; peripheral nervous system development [GO:0007422]; signal transduction [GO:0007165]; sympathetic nervous system development [GO:0048485]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60609-1; Sequence=Displayed; Name=2; IsoId=O60609-2; Sequence=VSP_010942; 


uniprotID: Q9H3C7
geneSymbol: GGNBP2
name: Gametogenetin-binding protein 2 (Laryngeal carcinoma-related protein 1) (Protein ZNF403)
length: 697
go: ENSG00000278311;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; nucleus [GO:0005634]; cell differentiation [GO:0030154]; labyrinthine layer blood vessel development [GO:0060716]; negative regulation of cell proliferation [GO:0008285]; negative regulation of gene expression [GO:0010629]; negative regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033140]; negative regulation of protein tyrosine kinase activity [GO:0061099]; negative regulation of tyrosine phosphorylation of STAT protein [GO:0042532]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H3C7-1; Sequence=Displayed; Name=2; IsoId=Q9H3C7-2; Sequence=VSP_019175, VSP_019176; Name=3; IsoId=Q9H3C7-3; Sequence=VSP_019177, VSP_019178; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000250}. Note=Associated with vesicular structures. {ECO:0000250}.


uniprotID: P01743
geneSymbol: IGHV1-46
length: 117
go: ENSG00000211962;
name:
Immunoglobulin heavy variable 1-46 (Ig heavy chain V-I region DOT) (Ig heavy chain V-I region HG3) (Ig heavy chain V-I region Mot)

sequence:
MDWTWRVFCLLAVAPGAHSQVQLVQSGAEVKKPGASVKVSCKASGYTFTSYYMHWVRQAPGQGLEWMGIINPSGGSTSYAQKFQGRVTMTRDTSTSTVYMELSSLRSEDTAVYYCAR

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: I3L273
geneSymbol: GFY
name: Golgi-associated olfactory signaling regulator (Protein Goofy)
length: 518
go: ENSG00000261949;
sequence:

opentargets:
integral component of Golgi membrane [GO:0030173]; non-motile cilium assembly [GO:1905515]; protein localization to non-motile cilium [GO:0097499]; response to stimulus [GO:0050896]; sensory perception of smell [GO:0007608]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: Q2TAA2
geneSymbol: IAH1
name: Isoamyl acetate-hydrolyzing esterase 1 homolog (EC 3.1.-.-)
length: 248
go: ENSG00000134330;
opentargets: hydrolase activity, acting on ester bonds [GO:0016788]; lipid catabolic process [GO:0016042]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2TAA2-1; Sequence=Displayed; Name=2; IsoId=Q2TAA2-2; Sequence=VSP_056571; Note=No experimental confirmation available.; 


uniprotID: P10997
geneSymbol: IAPP
reactome: R-HSA-210745;R-HSA-418555;R-HSA-419812;R-HSA-977225;
pdb: 1KUW;2G48;2KB8;2L86;3DG1;3FPO;3FR1;3FTH;3FTK;3FTL;3FTR;3G7V;3G7W;3HGZ;5K5G;5KNZ;5KO0;5MGQ;
name: Islet amyloid polypeptide (Amylin) (Diabetes-associated peptide) (DAP) (Insulinoma amyloid peptide)
sequence: MGILKLQVFLIVLSVALNHLKATPIESHQVEKRKCNTATCATQRLANFLVHSSNNFGAILSSTNVGSNTYGKRNAVEVLKREPLNYLPL
length: 89
go: ENSG00000121351;
snps: rs1800203
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:17374526}.
opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; inclusion body [GO:0016234]; intracellular [GO:0005622]; neuronal cell body [GO:0043025]; amyloid-beta binding [GO:0001540]; 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]; amylin receptor signaling pathway [GO:0097647]; amyloid fibril formation [GO:1990000]; apoptotic process [GO:0006915]; cell-cell signaling [GO:0007267]; cellular protein metabolic process [GO:0044267]; eating behavior [GO:0042755]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of amyloid fibril formation [GO:1905907]; negative regulation of bone resorption [GO:0045779]; negative regulation of cell differentiation [GO:0045596]; negative regulation of cell proliferation [GO:0008285]; negative regulation of mitochondrion organization [GO:0010823]; negative regulation of protein homooligomerization [GO:0032463]; positive regulation of apoptotic process [GO:0043065]; positive regulation of calcium ion import across plasma membrane [GO:1905665]; positive regulation of cell death [GO:0010942]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein kinase A signaling [GO:0010739]; positive regulation of protein kinase B signaling [GO:0051897]; protein destabilization [GO:0031648]; protein homooligomerization [GO:0051260]; sensory perception of pain [GO:0019233]; signal transduction [GO:0007165]


uniprotID: B1ANH7
geneSymbol: IBA57-AS1
name: Putative uncharacterized protein IBA57-AS1 (IBA57 antisense RNA 1) (IBA57 antisense gene protein 1)
length: 110
sequence:
MTYPPHRAFSRSDVPYPLLSSPVQWPLSLVVGDTSTRWPQQPSALESDCPGPSHPCLAGLLGPMHPVDIPLSTALHSKHQRRLTQCVLMVQSPSKQRSLYLLNKKIPHDA


uniprotID: P08833
geneSymbol: IGFBP1
reactome: R-HSA-380994;R-HSA-381426;R-HSA-8957275;
pdb: 1ZT3;1ZT5;2DSQ;
length: 259
go: ENSG00000146678;
snps: rs41258845 rs1065782 rs4619
location: SUBCELLULAR LOCATION: Secreted.
name:
Insulin-like growth factor-binding protein 1 (IBP-1) (IGF-binding protein 1) (IGFBP-1) (Placental protein 12) (PP12)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; insulin-like growth factor binding [GO:0005520]; insulin-like growth factor I binding [GO:0031994]; insulin-like growth factor II binding [GO:0031995]; signaling receptor binding [GO:0005102]; aging [GO:0007568]; cellular protein metabolic process [GO:0044267]; insulin receptor signaling pathway [GO:0008286]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of cell growth [GO:0030307]; post-translational protein modification [GO:0043687]; signal transduction [GO:0007165]; tissue regeneration [GO:0042246]


uniprotID: P18065
geneSymbol: IGFBP2
reactome: R-HSA-381426;
pdb: 2H7T;
name: Insulin-like growth factor-binding protein 2 (IBP-2) (IGF-binding protein 2) (IGFBP-2)
length: 325
go: ENSG00000115457;
snps: rs9341096
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasmic vesicle [GO:0031410]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; insulin-like growth factor I binding [GO:0031994]; insulin-like growth factor II binding [GO:0031995]; signaling receptor binding [GO:0005102]; aging [GO:0007568]; cellular protein metabolic process [GO:0044267]; cellular response to hormone stimulus [GO:0032870]; female pregnancy [GO:0007565]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; positive regulation of activated T cell proliferation [GO:0042104]; regulation of cell growth [GO:0001558]; regulation of insulin-like growth factor receptor signaling pathway [GO:0043567]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to estrogen [GO:0043627]; response to glucocorticoid [GO:0051384]; response to lithium ion [GO:0010226]; response to mechanical stimulus [GO:0009612]; response to nutrient [GO:0007584]; response to retinoic acid [GO:0032526]; signal transduction [GO:0007165]


uniprotID: P17936
geneSymbol: IGFBP3
reactome: R-HSA-381426;R-HSA-6803211;R-HSA-8957275;
name: Insulin-like growth factor-binding protein 3 (IBP-3) (IGF-binding protein 3) (IGFBP-3)
length: 291
go: ENSG00000146674;
drug: DB01277;
snps: rs2854746 rs34257987 rs9282734 rs35712717 rs538312081
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:20353938}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; insulin-like growth factor binding protein complex [GO:0016942]; insulin-like growth factor ternary complex [GO:0042567]; nucleus [GO:0005634]; fibronectin binding [GO:0001968]; insulin-like growth factor binding [GO:0005520]; insulin-like growth factor I binding [GO:0031994]; insulin-like growth factor II binding [GO:0031995]; metal ion binding [GO:0046872]; protein tyrosine phosphatase activator activity [GO:0008160]; apoptotic process [GO:0006915]; cellular protein metabolic process [GO:0044267]; negative regulation of cell proliferation [GO:0008285]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of signal transduction [GO:0009968]; negative regulation of smooth muscle cell migration [GO:0014912]; negative regulation of smooth muscle cell proliferation [GO:0048662]; osteoblast differentiation [GO:0001649]; positive regulation of apoptotic process [GO:0043065]; positive regulation of insulin-like growth factor receptor signaling pathway [GO:0043568]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of myoblast differentiation [GO:0045663]; post-translational protein modification [GO:0043687]; protein phosphorylation [GO:0006468]; regulation of apoptotic process [GO:0042981]; regulation of cell growth [GO:0001558]; regulation of glucose metabolic process [GO:0010906]; type B pancreatic cell proliferation [GO:0044342]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P17936-1; Sequence=Displayed; Name=2; IsoId=P17936-2; Sequence=VSP_047293; Note=Gene prediction based on EST data.; 


uniprotID: Q16775
geneSymbol: HAGH
reactome: R-HSA-70268;
pdb: 1QH3;1QH5;2F50;
name: Hydroxyacylglutathione hydrolase, mitochondrial (EC 3.1.2.6) (Glyoxalase II) (Glx II)
length: 308
go: ENSG00000063854;
drug: DB00143;DB03889;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; hydroxyacylglutathione hydrolase activity [GO:0004416]; metal ion binding [GO:0046872]; glutathione biosynthetic process [GO:0006750]; methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione [GO:0019243]; pyruvate metabolic process [GO:0006090]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=1; IsoId=Q16775-1; Sequence=Displayed; Name=2; IsoId=Q16775-2; Sequence=VSP_037929; Note=Produced by alternative splicing. Also produced by alternative initiation at Met-49 of isoform 1.; Name=3; IsoId=Q16775-3; Sequence=VSP_055199, VSP_055200; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion matrix {ECO:0000269|PubMed:15117945}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:15117945}.


uniprotID: P24593
geneSymbol: IGFBP5
reactome: R-HSA-381426;R-HSA-8957275;
pdb: 1BOE;1H59;
name: Insulin-like growth factor-binding protein 5 (IBP-5) (IGF-binding protein 5) (IGFBP-5)
length: 272
go: ENSG00000115461;
snps: rs11575194
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; insulin-like growth factor binding protein complex [GO:0016942]; insulin-like growth factor ternary complex [GO:0042567]; fibronectin binding [GO:0001968]; insulin-like growth factor I binding [GO:0031994]; insulin-like growth factor II binding [GO:0031995]; aging [GO:0007568]; cellular protein metabolic process [GO:0044267]; cellular response to cAMP [GO:0071320]; cellular response to organic cyclic compound [GO:0071407]; female pregnancy [GO:0007565]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; hair follicle morphogenesis [GO:0031069]; intracellular signal transduction [GO:0035556]; lung alveolus development [GO:0048286]; mammary gland involution [GO:0060056]; negative regulation of cell migration [GO:0030336]; negative regulation of growth [GO:0045926]; negative regulation of insulin-like growth factor receptor signaling pathway [GO:0043569]; negative regulation of muscle tissue development [GO:1901862]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of skeletal muscle hypertrophy [GO:1904205]; negative regulation of smooth muscle cell migration [GO:0014912]; negative regulation of smooth muscle cell proliferation [GO:0048662]; negative regulation of translation [GO:0017148]; osteoblast differentiation [GO:0001649]; positive regulation of insulin-like growth factor receptor signaling pathway [GO:0043568]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; post-translational protein modification [GO:0043687]; regulation of cell growth [GO:0001558]; regulation of glucose metabolic process [GO:0010906]; response to growth hormone [GO:0060416]; signal transduction [GO:0007165]; striated muscle cell differentiation [GO:0051146]; type B pancreatic cell proliferation [GO:0044342]


uniprotID: P24592
geneSymbol: IGFBP6
reactome: R-HSA-381426;
pdb: 1RMJ;
name: Insulin-like growth factor-binding protein 6 (IBP-6) (IGF-binding protein 6) (IGFBP-6)
length: 240
go: ENSG00000167779;
snps: rs9658616 rs34995393 rs6413498 rs1053134
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; insulin-like growth factor binary complex [GO:0042568]; fibronectin binding [GO:0001968]; insulin-like growth factor I binding [GO:0031994]; insulin-like growth factor II binding [GO:0031995]; signaling receptor binding [GO:0005102]; cellular protein metabolic process [GO:0044267]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell proliferation [GO:0008285]; regulation of cell growth [GO:0001558]; signal transduction [GO:0007165]


uniprotID: P05155
geneSymbol: SERPING1
reactome: R-HSA-114608;R-HSA-140837;R-HSA-977606;
pdb: 1M6Q;2OAY;5DU3;5DUQ;
length: 500
go: ENSG00000149131;
drug: DB05341;
location: SUBCELLULAR LOCATION: Secreted.
name:
Plasma protease C1 inhibitor (C1 Inh) (C1Inh) (C1 esterase inhibitor) (C1-inhibiting factor) (Serpin G1)

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; platelet alpha granule lumen [GO:0031093]; serine-type endopeptidase inhibitor activity [GO:0004867]; aging [GO:0007568]; blood circulation [GO:0008015]; blood coagulation, intrinsic pathway [GO:0007597]; complement activation, classical pathway [GO:0006958]; fibrinolysis [GO:0042730]; innate immune response [GO:0045087]; negative regulation of complement activation, lectin pathway [GO:0001869]; negative regulation of endopeptidase activity [GO:0010951]; platelet degranulation [GO:0002576]; regulation of complement activation [GO:0030449]

snps:
rs11229062 rs11546660 rs200534715 rs281875168 rs281875169 rs281875170 rs281875171 rs281875172 rs281875173 rs1803212 rs281875174 rs281875175 rs281875176 rs121907949 rs121907947 rs121907950 rs28940870 rs121907948 rs121907948 rs28940870 rs281875177 rs4926 rs281875178 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P05155-1; Sequence=Displayed; Name=2; IsoId=P05155-2; Sequence=VSP_056662; Note=No experimental confirmation available.; Name=3; IsoId=P05155-3; Sequence=VSP_056663; Note=No experimental confirmation available.; 


uniprotID: Q05084
geneSymbol: ICA1
length: 483
go: ENSG00000003147;
name:
Islet cell autoantigen 1 (69 kDa islet cell autoantigen) (ICA69) (Islet cell autoantigen p69) (ICAp69) (p69)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; secretory granule membrane [GO:0030667]; synaptic vesicle membrane [GO:0030672]; protein domain specific binding [GO:0019904]; neurotransmitter transport [GO:0006836]; regulation of insulin secretion [GO:0050796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q05084-1; Sequence=Displayed; Name=2; IsoId=Q05084-2; Sequence=VSP_047761; Name=3; IsoId=Q05084-3; Sequence=VSP_055405; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:12682071}. Golgi apparatus membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Predominantly cytosolic. Also exists as a membrane-bound form which has been found associated with synaptic vesicles and also with the Golgi complex and immature secretory granules.


uniprotID: P32942
geneSymbol: ICAM3
reactome: R-HSA-198933;R-HSA-216083;R-HSA-5621575;
pdb: 1T0P;
name: Intercellular adhesion molecule 3 (ICAM-3) (CDw50) (ICAM-R) (CD antigen CD50)
length: 547
go: ENSG00000076662;
snps: rs17697947 rs7258015 rs2304237 rs2230399
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; integrin binding [GO:0005178]; signaling receptor binding [GO:0005102]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; extracellular matrix organization [GO:0030198]; phagocytosis [GO:0006909]; regulation of immune response [GO:0050776]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]


uniprotID: Q14773
geneSymbol: ICAM4
reactome: R-HSA-198933;R-HSA-216083;
length: 271
go: ENSG00000105371;
snps: rs77493670 rs36023325
name:
Intercellular adhesion molecule 4 (ICAM-4) (Landsteiner-Wiener blood group glycoprotein) (LW blood group protein) (CD antigen CD242)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; integrin binding [GO:0005178]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; extracellular matrix organization [GO:0030198]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=Q14773-1; Sequence=Displayed; Name=Short; IsoId=Q14773-2; Sequence=VSP_002519; Name=3; IsoId=Q14773-3; Sequence=VSP_043229; 

location:
SUBCELLULAR LOCATION: Isoform Long: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform Short: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9ERM2}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: P43220
geneSymbol: GLP1R
reactome: R-HSA-381676;R-HSA-418555;R-HSA-420092;
pdb: 3C59;3C5T;3IOL;4ZGM;5E94;5NX2;5OTT;5OTU;5OTV;5OTW;5OTX;5VEW;5VEX;6B3J;6GB1;
name: Glucagon-like peptide 1 receptor (GLP-1 receptor) (GLP-1-R) (GLP-1R)
length: 463
go: ENSG00000112164;
drug: DB09043;DB09045;DB01276;DB00040;DB05162;DB06655;
snps: rs10305420 rs10305421 rs2295006 rs3765467 rs6923761 rs1042044 rs10305492 rs10305493 rs10305510
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]; glucagon receptor activity [GO:0004967]; glucagon-like peptide 1 receptor activity [GO:0044508]; peptide hormone binding [GO:0017046]; transmembrane signaling receptor activity [GO:0004888]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cAMP-mediated signaling [GO:0019933]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; learning or memory [GO:0007611]; positive regulation of blood pressure [GO:0045777]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of heart contraction [GO:0008016]; regulation of insulin secretion [GO:0050796]; response to psychosocial stress [GO:1990911]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19861722, ECO:0000269|PubMed:26308095, ECO:0000269|PubMed:27196125, ECO:0000269|PubMed:28514449, ECO:0000269|PubMed:7517895, ECO:0000269|PubMed:8216285, ECO:0000269|PubMed:8405712}; Multi-pass membrane protein {ECO:0000269|PubMed:28514449}.


uniprotID: Q9H4A5
geneSymbol: GOLPH3L
name: Golgi phosphoprotein 3-like (GPP34-related protein)
length: 285
go: ENSG00000143457;
sequence:

opentargets:
cytosol [GO:0005829]; Golgi cisterna [GO:0031985]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; phosphatidylinositol-4-phosphate binding [GO:0070273]; Golgi organization [GO:0007030]; Golgi to plasma membrane protein transport [GO:0043001]; Golgi vesicle budding [GO:0048194]; positive regulation of protein secretion [GO:0050714]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H4A5-1; Sequence=Displayed; Name=2; IsoId=Q9H4A5-2; Sequence=VSP_055229; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:23345592}; Peripheral membrane protein {ECO:0000269|PubMed:23345592}; Cytoplasmic side {ECO:0000269|PubMed:23345592}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:23345592}; Peripheral membrane protein {ECO:0000269|PubMed:23345592}; Cytoplasmic side {ECO:0000269|PubMed:23345592}. Note=Phosphatidylinositol 4-phosphate (PtdIns4P)-binding mediates recruitment to Golgi membranes.


uniprotID: Q8WWN9
geneSymbol: IPCEF1
pdb: 5MR1;
name: Interactor protein for cytohesin exchange factors 1 (Phosphoinositide-binding protein PIP3-E)
length: 437
go: ENSG00000074706;
snps: rs1060390
sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; oxygen carrier activity [GO:0005344]; peroxidase activity [GO:0004601]; protein domain specific binding [GO:0019904]; oxygen transport [GO:0015671]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=IPCEF1-1; IsoId=Q8WWN9-1; Sequence=Displayed; Name=IPCEF1-2; IsoId=Q8WWN9-2; Sequence=VSP_032682; Name=CNK3-IPCEF1-1; Synonyms=CNK3/IPCEF1 Long-1; IsoId=G9CGD6-1; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an CNK3/IPCEF1 fusion protein. {ECO:0000269|PubMed:22085542}; Name=CNK3-IPCEF1-2; Synonyms=CNK3/IPCEF1 Long-2; IsoId=G9CGD6-2; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an CNK3/IPCEF1 fusion protein. {ECO:0000269|PubMed:22085542}; Name=CNK3-IPCEF1-3; Synonyms=CNK3/IPCEF1 Short; IsoId=G9CGD6-3; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an CNK3/IPCEF1 fusion protein. Major isoform found in CaCo2-cells. {ECO:0000269|PubMed:22085542}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Translocated with PSCD2 to the plasma membrane upon epidermal growth factor (EGF) stimulation. {ECO:0000250}.


uniprotID: Q9UPZ9
geneSymbol: ICK
length: 632
go: ENSG00000112144;
name:
Serine/threonine-protein kinase ICK (EC 2.7.11.1) (Intestinal cell kinase) (hICK) (Laryngeal cancer kinase 2) (LCK2) (MAK-related kinase) (MRK)

sequence:

opentargets:
ciliary basal body [GO:0036064]; ciliary base [GO:0097546]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; cilium assembly [GO:0060271]; intracellular signal transduction [GO:0035556]; intraciliary anterograde transport [GO:0035720]; intraciliary retrograde transport [GO:0035721]; intraciliary transport [GO:0042073]; multicellular organism development [GO:0007275]; protein phosphorylation [GO:0006468]; regulation of gene expression [GO:0010468]; signal transduction [GO:0007165]

snps:
rs1493105 rs748539319 rs118203918 rs765078446 rs33936662 rs201964851 rs56164633 rs55895113 rs55932059 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:10699974}; IsoId=Q9UPZ9-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q9UPZ9-2; Sequence=VSP_050752, VSP_050753; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12103360, ECO:0000269|PubMed:19185282}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q62726}. Cell projection, cilium {ECO:0000269|PubMed:24797473}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q9JKV2}. Note=Also found at the ciliary tip (PubMed:24797473). Nuclear localization has been observed with a GFP-tagged construct in transfected HeLa cells (PubMed:12103360, PubMed:19185282). {ECO:0000269|PubMed:12103360, ECO:0000269|PubMed:19185282, ECO:0000269|PubMed:24797473}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:15988018}. Note=Predominant cytoplasmic localization has been observed with a N-terminally GFP-tagged construct. {ECO:0000269|PubMed:15988018}.


uniprotID: Q14410
geneSymbol: GK2
reactome: R-HSA-75109;
length: 553
go: ENSG00000196475;
name:
Glycerol kinase 2 (GK 2) (Glycerokinase 2) (EC 2.7.1.30) (ATP:glycerol 3-phosphotransferase 2) (Glycerol kinase, testis specific 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; glycerol kinase activity [GO:0004370]; glycerol catabolic process [GO:0019563]; glycerol metabolic process [GO:0006071]; glycerol-3-phosphate biosynthetic process [GO:0046167]; phosphorylation [GO:0016310]; triglyceride metabolic process [GO:0006641]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=In sperm the majority of the enzyme is bound to mitochondria. {ECO:0000250}.


uniprotID: Q14602
geneSymbol: ID2B
name: Putative DNA-binding protein inhibitor ID-2B (Inhibitor of DNA binding 2B)
sequence: MKAFSPVRSIRKNSLLDHRLGISQSKTPVDDLMSLL
length: 36
opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; RNA polymerase II transcription factor binding [GO:0001085]; transcription factor binding [GO:0008134]; circadian rhythm [GO:0007623]; negative regulation of DNA binding [GO:0043392]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron differentiation [GO:0030182]; regulation of cell cycle [GO:0051726]


uniprotID: Q9NZ38
geneSymbol: IDI2-AS1
name: Uncharacterized protein IDI2-AS1 (IDI2 antisense RNA 1) (IDI2 antisense gene protein 1)
length: 188
sequence:
MAFPGQSDTKMQWPEVPALPLLSSLCMAMVRKSSALGKEVGRRSEGNGDAGGPFPAVKFPIKDIQFSESGEGTRFLHGARLSPLSRNIKARLLLYVRASPLFYESRITLKKPSNRHEVKRNRCNRKTAKQMLMTTLFNELEPTRKYGITEDCTSLNRVLFSANRKCLHKSLYKKDCFKAAPFSMFSFR


uniprotID: P14735
geneSymbol: IDE
reactome: R-HSA-5689880;R-HSA-9033241;
length: 1019
go: ENSG00000119912;
drug: DB00626;DB00030;DB00071;
pdb:
2G47;2G48;2G49;2G54;2G56;2JBU;2JG4;2WBY;2WC0;2WK3;2YPU;3CWW;3E4A;3E4Z;3E50;3H44;3HGZ;3N56;3N57;3OFI;3QZ2;4DTT;4DWK;4GS8;4GSC;4GSF;4IFH;4IOF;4LTE;4M1C;4NXO;4PES;4PF7;4PF9;4PFC;4QIA;4RAL;4RE9;5CJO;5UOE;5WOB;6B3Q;6B70;6B7Y;6B7Z;6BF6;6BF7;6BF8;6BF9;6BFC;

name:
Insulin-degrading enzyme (EC 3.4.24.56) (Abeta-degrading protease) (Insulin protease) (Insulinase) (Insulysin)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic proteasome complex [GO:0031597]; extracellular space [GO:0005615]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; beta-endorphin binding [GO:0031626]; identical protein binding [GO:0042802]; insulin binding [GO:0043559]; metalloendopeptidase activity [GO:0004222]; peptide binding [GO:0042277]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; ubiquitin-dependent protein binding [GO:0140036]; virus receptor activity [GO:0001618]; zinc ion binding [GO:0008270]; amyloid-beta clearance [GO:0097242]; amyloid-beta metabolic process [GO:0050435]; bradykinin catabolic process [GO:0010815]; determination of adult lifespan [GO:0008340]; hormone catabolic process [GO:0042447]; insulin catabolic process [GO:1901143]; insulin metabolic process [GO:1901142]; insulin receptor signaling pathway [GO:0008286]; negative regulation of proteolysis [GO:0045861]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein oligomerization [GO:0032461]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; protein homotetramerization [GO:0051289]; protein targeting to peroxisome [GO:0006625]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; ubiquitin recycling [GO:0010992]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14735-1; Sequence=Displayed; Name=2; IsoId=P14735-2; Sequence=VSP_044303; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Secreted {ECO:0000250}. Note=Present at the cell surface of neuron cells. The membrane-associated isoform is approximately 5 kDa larger than the known cytosolic isoform.


uniprotID: Q5JXX5
geneSymbol: GLRA4
reactome: R-HSA-112314;
name: Glycine receptor subunit alpha-4
length: 417
go: ENSG00000188828;
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; dendrite [GO:0030425]; glycinergic synapse [GO:0098690]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; neuron projection [GO:0043005]; perikaryon [GO:0043204]; synapse [GO:0045202]; extracellularly glycine-gated chloride channel activity [GO:0016934]; glycine binding [GO:0016594]; transmembrane signaling receptor activity [GO:0004888]; transmitter-gated ion channel activity [GO:0022824]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; neuropeptide signaling pathway [GO:0007218]; regulation of membrane potential [GO:0042391]; response to amino acid [GO:0043200]; signal transduction [GO:0007165]; synaptic transmission, glycinergic [GO:0060012]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q61603}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q61603}. Cell junction, synapse {ECO:0000250|UniProtKB:Q61603}. Perikaryon {ECO:0000250|UniProtKB:Q61603}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q61603}. Cell membrane {ECO:0000250|UniProtKB:Q61603}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q61603}.


uniprotID: P48167
geneSymbol: GLRB
reactome: R-HSA-112314;
name: Glycine receptor subunit beta (Glycine receptor 58 kDa subunit)
length: 497
go: ENSG00000109738;
drug: DB00228;DB00145;DB00431;
snps: rs398122856 rs121909749
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; GABA-ergic synapse [GO:0098982]; glycine-gated chloride channel complex [GO:0016935]; glycinergic synapse [GO:0098690]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; extracellularly glycine-gated chloride channel activity [GO:0016934]; extracellularly glycine-gated ion channel activity [GO:0016933]; glycine binding [GO:0016594]; transmembrane signaling receptor activity [GO:0004888]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; acrosome reaction [GO:0007340]; adult walking behavior [GO:0007628]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; gamma-aminobutyric acid receptor clustering [GO:0097112]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; nervous system development [GO:0007399]; nervous system process [GO:0050877]; neuropeptide signaling pathway [GO:0007218]; protein heterooligomerization [GO:0051291]; regulation of membrane potential [GO:0042391]; response to amino acid [GO:0043200]; righting reflex [GO:0060013]; signal transduction [GO:0007165]; startle response [GO:0001964]; synaptic transmission, glycinergic [GO:0060012]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48167-1; Sequence=Displayed; Name=2; IsoId=P48167-2; Sequence=VSP_045466, VSP_045467; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:P48168}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P23415}. Cell junction, synapse {ECO:0000250|UniProtKB:P48168}. Cell projection, dendrite {ECO:0000250|UniProtKB:P48168}. Cell membrane {ECO:0000269|PubMed:11929858, ECO:0000269|PubMed:12684523, ECO:0000269|PubMed:15302677, ECO:0000269|PubMed:16144831, ECO:0000269|PubMed:22715885, ECO:0000269|PubMed:22973015, ECO:0000269|PubMed:23238346, ECO:0000269|PubMed:25445488, ECO:0000269|PubMed:8717357}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P23415}. Cytoplasm {ECO:0000269|PubMed:12684523}. Note=Retained in the cytoplasm upon heterologous expression by itself. Coexpression with GPHN promotes expression at the cell membrane (PubMed:12684523). Coexpression with GLRA1, GLRA2 or GLRA3 promotes expression at the cell membrane. {ECO:0000250|UniProtKB:P20781, ECO:0000269|PubMed:12684523}.


uniprotID: P35754
geneSymbol: GLRX
reactome: R-HSA-499943;
pdb: 1B4Q;1JHB;4RQR;
name: Glutaredoxin-1 (Thioltransferase-1) (TTase-1)
length: 106
go: ENSG00000173221;
drug: DB00143;
snps: rs4767
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:
MAQEFVNCKIQPGKVVVFIKPTCPYCRRAQEILSQLPIKQGLLEFVDITATNHTNEIQDYLQQLTGARTVPRVFIGKDCIGGCSDLVSLQQSGELLTRLKQIGALQ

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; electron transfer activity [GO:0009055]; glutathione disulfide oxidoreductase activity [GO:0015038]; glutathione oxidoreductase activity [GO:0097573]; protein N-terminus binding [GO:0047485]; cell redox homeostasis [GO:0045454]; nucleobase-containing small molecule interconversion [GO:0015949]; positive regulation of membrane potential [GO:0045838]; positive regulation of sodium ion transmembrane transporter activity [GO:2000651]; protein deglutathionylation [GO:0080058]


uniprotID: O75874
geneSymbol: IDH1
reactome: R-HSA-2978092;R-HSA-389542;R-HSA-6798695;R-HSA-9033241;
length: 414
go: ENSG00000138413;
drug: DB03461;DB09374;DB01727;
snps: rs121913499 rs121913500 rs121913499 rs34218846
pdb:
1T09;1T0L;3INM;3MAP;3MAR;3MAS;4I3K;4I3L;4KZO;4L03;4L04;4L06;4UMX;4UMY;4XRX;4XS3;5DE1;5GIR;5K10;5K11;5L57;5L58;5LGE;5SUN;5SVF;5TQH;5YFM;5YFN;6ADG;6B0Z;6BKX;6BKY;6BKZ;6BL0;6BL1;6BL2;

name:
Isocitrate dehydrogenase [NADP] cytoplasmic (IDH) (EC 1.1.1.42) (Cytosolic NADP-isocitrate dehydrogenase) (IDP) (NADP(+)-specific ICDH) (Oxalosuccinate decarboxylase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; mitochondrion [GO:0005739]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; secretory granule lumen [GO:0034774]; tertiary granule lumen [GO:1904724]; (R)-2-hydroxyglutarate dehydrogenase activity [GO:0051990]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; isocitrate dehydrogenase (NADP+) activity [GO:0004450]; magnesium ion binding [GO:0000287]; NAD binding [GO:0051287]; NADP binding [GO:0050661]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; 2-oxoglutarate metabolic process [GO:0006103]; female gonad development [GO:0008585]; glutathione metabolic process [GO:0006749]; glyoxylate cycle [GO:0006097]; isocitrate metabolic process [GO:0006102]; NADP metabolic process [GO:0006739]; NADPH regeneration [GO:0006740]; neutrophil degranulation [GO:0043312]; protein targeting to peroxisome [GO:0006625]; regulation of phospholipid biosynthetic process [GO:0071071]; regulation of phospholipid catabolic process [GO:0060696]; response to oxidative stress [GO:0006979]; response to steroid hormone [GO:0048545]; tricarboxylic acid cycle [GO:0006099]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10521434}. Peroxisome {ECO:0000269|PubMed:10521434}.


uniprotID: Q86SX6
geneSymbol: GLRX5
reactome: R-HSA-1362409;
pdb: 2MMZ;2WUL;
name: Glutaredoxin-related protein 5, mitochondrial (Monothiol glutaredoxin-5)
length: 157
go: ENSG00000182512;
snps: rs869312752 rs11628901 rs765487627
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:20364084}.
sequence:
MSGSLGRAAAALLRWGRGAGGGGLWGPGVRAAGSGAGGGGSAEQLDALVKKDKVVVFLKGTPEQPQCGFSNAVVQILRLHGVRDYAAYNVLDDPELRQGIKDYSNWPTIPQVYLNGEFVGGCDILLQMHQNGDLVEELKKLGIHSALLDEKKDQDSK

opentargets:
dendrite [GO:0030425]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; 2 iron, 2 sulfur cluster binding [GO:0051537]; electron transfer activity [GO:0009055]; glutathione disulfide oxidoreductase activity [GO:0015038]; metal ion binding [GO:0046872]; protein disulfide oxidoreductase activity [GO:0015035]; cell redox homeostasis [GO:0045454]; hemopoiesis [GO:0030097]; protein lipoylation [GO:0009249]; small molecule metabolic process [GO:0044281]


uniprotID: P48735
geneSymbol: IDH2
reactome: R-HSA-2151201;R-HSA-71403;
pdb: 4JA8;5GIS;5I95;5I96;5SVN;5SVO;6ADI;
length: 452
go: ENSG00000182054;
drug: DB01727;
snps: rs267606870 rs121913502 rs1057519906 rs121913503 rs1057519736
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Isocitrate dehydrogenase [NADP], mitochondrial (IDH) (EC 1.1.1.42) (ICD-M) (IDP) (NADP(+)-specific ICDH) (Oxalosuccinate decarboxylase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; peroxisome [GO:0005777]; isocitrate dehydrogenase (NADP+) activity [GO:0004450]; magnesium ion binding [GO:0000287]; NAD binding [GO:0051287]; protein homodimerization activity [GO:0042803]; 2-oxoglutarate metabolic process [GO:0006103]; carbohydrate metabolic process [GO:0005975]; glyoxylate cycle [GO:0006097]; isocitrate metabolic process [GO:0006102]; NADP biosynthetic process [GO:0006741]; NADP metabolic process [GO:0006739]; negative regulation of glial cell migration [GO:1903976]; negative regulation of glial cell proliferation [GO:0060253]; negative regulation of matrix metallopeptidase secretion [GO:1904465]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48735-1; Sequence=Displayed; Name=2; IsoId=P48735-2; Sequence=VSP_056278; Note=No experimental confirmation available.; 


uniprotID: O94925
geneSymbol: GLS
reactome: R-HSA-210500;R-HSA-5628897;R-HSA-70614;
length: 669
go: ENSG00000115419;
drug: DB13155;DB09374;DB00142;DB00130;
snps: rs16833035
pdb:
3CZD;3UNW;3UO9;3VOY;3VOZ;3VP0;3VP1;3VP2;3VP3;3VP4;4O7D;5D3O;5FI2;5FI6;5FI7;5HL1;5I94;5JYO;5JYP;5U0I;5U0J;5UQE;5WJ6;

name:
Glutaminase kidney isoform, mitochondrial (GLS) (EC 3.5.1.2) (K-glutaminase) (L-glutamine amidohydrolase)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; glutaminase activity [GO:0004359]; cellular amino acid biosynthetic process [GO:0008652]; chemical synaptic transmission [GO:0007268]; glutamate biosynthetic process [GO:0006537]; glutamate secretion [GO:0014047]; glutamine catabolic process [GO:0006543]; protein homotetramerization [GO:0051289]; regulation of respiratory gaseous exchange by neurological system process [GO:0002087]; suckling behavior [GO:0001967]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=KGA; IsoId=O94925-1; Sequence=Displayed; Name=2; Synonyms=GAM; IsoId=O94925-2; Sequence=VSP_001765, VSP_001766; Name=3; Synonyms=Glutaminase C, GAC; IsoId=O94925-3; Sequence=VSP_001767; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytosol.; SUBCELLULAR LOCATION: Isoform 3: Mitochondrion.


uniprotID: Q9UI32
geneSymbol: GLS2
reactome: R-HSA-210500;R-HSA-5628897;R-HSA-70614;
pdb: 4BQM;5U0K;
length: 602
go: ENSG00000135423;
drug: DB00142;DB00130;
snps: rs2657879
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20378837}.
name:
Glutaminase liver isoform, mitochondrial (GLS) (EC 3.5.1.2) (L-glutaminase) (L-glutamine amidohydrolase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; glutaminase activity [GO:0004359]; cellular amino acid biosynthetic process [GO:0008652]; cellular amino acid metabolic process [GO:0006520]; glutamate biosynthetic process [GO:0006537]; glutamate secretion [GO:0014047]; glutamine catabolic process [GO:0006543]; reactive oxygen species metabolic process [GO:0072593]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UI32-1; Sequence=Displayed; Name=2; IsoId=Q9UI32-2; Sequence=VSP_057009, VSP_057010; Note=No experimental confirmation available.; 


uniprotID: Q8IXK2
geneSymbol: GALNT12
reactome: R-HSA-5083636;R-HSA-913709;
length: 581
go: ENSG00000119514;
name:
Polypeptide N-acetylgalactosaminyltransferase 12 (EC 2.4.1.41) (Polypeptide GalNAc transferase 12) (GalNAc-T12) (pp-GaNTase 12) (Protein-UDP acetylgalactosaminyltransferase 12) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12)

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]; O-glycan processing [GO:0016266]

snps:
rs10987768 rs1137654 rs41306504 rs367645298 rs149726976 rs145236923 rs920049418 rs868590153 rs267606840 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IXK2-1; Sequence=Displayed; Name=2; IsoId=Q8IXK2-2; Sequence=VSP_011217; Note=No experimental confirmation available.; 


uniprotID: Q6IS24
geneSymbol: GALNT17
reactome: R-HSA-913709;
length: 598
go: ENSG00000185274;
name:
Polypeptide N-acetylgalactosaminyltransferase 17 (EC 2.4.1.41) (Polypeptide GalNAc transferase-like protein 3) (GalNAc-T-like protein 3) (pp-GaNTase-like protein 3) (Protein-UDP acetylgalactosaminyltransferase-like protein 3) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3) (Williams-Beuren syndrome chromosomal region 17 protein)

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 glycosylation [GO:0006486]


uniprotID: Q6NT46
geneSymbol: GAGE2A
name: G antigen 2A (GAGE-2A)
length: 116
go: ENSG00000189064;
sequence:
MSWRGRSTYRPRPRRYVEPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGQDEGASAGQGPKPEAHSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGEKQSQC


uniprotID: Q99819
geneSymbol: ARHGDIG
reactome: R-HSA-194840;
name: Rho GDP-dissociation inhibitor 3 (Rho GDI 3) (Rho-GDI gamma)
length: 225
go: ENSG00000242173;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; membrane [GO:0016020]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; Rac GTPase binding [GO:0048365]; Rho GDP-dissociation inhibitor activity [GO:0005094]; blastocyst hatching [GO:0001835]; negative regulation of cell adhesion [GO:0007162]; regulation of protein localization [GO:0032880]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]


uniprotID: Q8N9F7
geneSymbol: GDPD1
reactome: R-HSA-6814848;
length: 314
go: ENSG00000153982;
name:
Lysophospholipase D GDPD1 (EC 3.1.4.39) (Glycerophosphodiester phosphodiesterase 4) (Glycerophosphodiester phosphodiesterase domain-containing protein 1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; alkylglycerophosphoethanolamine phosphodiesterase activity [GO:0047391]; lysophospholipase activity [GO:0004622]; metal ion binding [GO:0046872]; N-acylethanolamine metabolic process [GO:0070291]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N9F7-1; Sequence=Displayed; Name=2; IsoId=Q8N9F7-2; Sequence=VSP_020807, VSP_020808; Name=3; Synonyms=UGPQ; IsoId=Q8N9F7-3; Sequence=VSP_020806; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18991142}. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:18991142}. Note=Concentrated at the perinuclear region and the cell periphery (PubMed:18991142). {ECO:0000269|PubMed:18991142}.


uniprotID: Q7L5L3
geneSymbol: GDPD3
reactome: R-HSA-6814848;
length: 318
go: ENSG00000102886;
name:
Lysophospholipase D GDPD3 (EC 3.1.4.-) (Glycerophosphodiester phosphodiesterase 7) (Glycerophosphodiester phosphodiesterase domain-containing protein 3)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; metal ion binding [GO:0046872]; phosphoric diester hydrolase activity [GO:0008081]; phosphatidylcholine catabolic process [GO:0034638]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L5L3-2; Sequence=Displayed; Name=2; IsoId=Q7L5L3-1; Sequence=VSP_036888; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q99LY2}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q99LY2}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q99LY2}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q99LY2}. Note=Partially co-localized with CANX. {ECO:0000250|UniProtKB:Q99LY2}.


uniprotID: O75420
geneSymbol: GIGYF1
pdb: 5NVK;
name: GRB10-interacting GYF protein 1 (PERQ amino acid-rich with GYF domain-containing protein 1)
length: 1035
go: ENSG00000146830;
sequence:

opentargets:
protein-containing complex [GO:0032991]; insulin-like growth factor receptor signaling pathway [GO:0048009]


uniprotID: P27539
geneSymbol: GDF1
reactome: R-HSA-1181150;
name: Embryonic growth/differentiation factor 1 (GDF-1)
length: 372
go: ENSG00000130283;ENSG00000223802;
snps: rs763822282 rs4808863 rs121434424 rs121434423 rs864622513 rs1064793138
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160]; BMP signaling pathway [GO:0030509]; cell development [GO:0048468]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; SMAD protein signal transduction [GO:0060395]


uniprotID: A0A0C4DH29
geneSymbol: IGHV1-3
name: Immunoglobulin heavy variable 1-3
length: 117
sequence:
MDWTWRILFLVAAATGAHSQVQLVQSGAEVKKPGASVKVSCKASGYTFTSYAMHWVRQAPGQRLEWMGWINAGNGNTKYSQKFQGRVTITRDTSASTAYMELSSLRSEDTAVYYCAR


uniprotID: Q99665
geneSymbol: IL12RB2
reactome: R-HSA-8984722;R-HSA-9020591;
length: 862
go: ENSG00000081985;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-12 receptor subunit beta-2 (IL-12 receptor subunit beta-2) (IL-12R subunit beta-2) (IL-12R-beta-2) (IL-12RB2)

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]; protein kinase binding [GO:0019901]; cell surface receptor signaling pathway [GO:0007166]; interferon-gamma production [GO:0032609]; interleukin-12-mediated signaling pathway [GO:0035722]; interleukin-35-mediated signaling pathway [GO:0070757]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of cell proliferation [GO:0008284]; positive regulation of interferon-gamma production [GO:0032729]; response to lipopolysaccharide [GO:0032496]

snps:
rs17129772 rs17129792 rs2307146 rs7526769 rs2307148 rs2307148 rs2307145 rs2307153 rs2307154 rs17838066 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99665-1; Sequence=Displayed; Name=2; IsoId=Q99665-2; Sequence=VSP_011112, VSP_011113; Name=3; IsoId=Q99665-3; Sequence=VSP_044784; Note=No experimental confirmation available.; 


uniprotID: Q14627
geneSymbol: IL13RA2
reactome: R-HSA-6785807;
pdb: 3LB6;
length: 380
go: ENSG00000123496;
drug: DB05078;
snps: rs17095919
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-13 receptor subunit alpha-2 (IL-13 receptor subunit alpha-2) (IL-13R subunit alpha-2) (IL-13R-alpha-2) (IL-13RA2) (Interleukin-13-binding protein) (CD antigen CD213a2)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; cytokine-mediated signaling pathway [GO:0019221]; immunoglobulin mediated immune response [GO:0016064]; negative regulation of immunoglobulin production [GO:0002638]; negative regulation of mast cell degranulation [GO:0043305]


uniprotID: Q9NRM6
geneSymbol: IL17RB
reactome: R-HSA-448424;
length: 502
go: ENSG00000056736;
snps: rs2232337 rs2232340 rs2232343 rs2232346 rs2232350 rs2232351 rs28385751
name:
Interleukin-17 receptor B (IL-17 receptor B) (IL-17RB) (Cytokine receptor-like 4) (IL-17 receptor homolog 1) (IL-17Rh1) (IL17Rh1) (Interleukin-17B receptor) (IL-17B receptor)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; cytokine receptor activity [GO:0004896]; interleukin-17 receptor activity [GO:0030368]; defense response [GO:0006952]; interleukin-17-mediated signaling pathway [GO:0097400]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interleukin-13 secretion [GO:2000667]; positive regulation of interleukin-5 secretion [GO:2000664]; regulation of cell growth [GO:0001558]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRM6-1; Sequence=Displayed; Name=2; IsoId=Q9NRM6-2; Sequence=VSP_001740, VSP_001741; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q8NFM7
geneSymbol: IL17RD
reactome: R-HSA-5674135;
length: 739
go: ENSG00000144730;
snps: rs184758350 rs6780995 rs17057718 rs369641068 rs145221454 rs587776980 rs587776979
name:
Interleukin-17 receptor D (IL-17 receptor D) (IL-17RD) (IL17Rhom) (Interleukin-17 receptor-like protein) (Sef homolog) (hSef)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; interleukin-17 receptor activity [GO:0030368]; MAPK cascade [GO:0000165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=hSef-a, IL17RLM-L, Long; IsoId=Q8NFM7-1; Sequence=Displayed; Name=2; Synonyms="IL17RLM-S, Short; IsoId=Q8NFM7-2; Sequence=VSP_015582; Name=3; IsoId=Q8NFM7-3; Sequence=VSP_015583; Name=4; Synonyms=hSef-b; IsoId=Q8NFM7-4; Sequence=VSP_015584; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:14742870}; Single-pass type I membrane protein {ECO:0000269|PubMed:14742870}. Cell membrane {ECO:0000269|PubMed:14742870}; Single-pass type I membrane protein {ECO:0000269|PubMed:14742870}. Note=Predominantly associated with the Golgi apparatus and is partially translocated to the plasma membrane upon stimulation.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm.


uniprotID: Q9H9L3
geneSymbol: ISG20L2
reactome: R-HSA-6791226;
name: Interferon-stimulated 20 kDa exonuclease-like 2 (EC 3.1.-.-)
length: 353
go: ENSG00000143319;
snps: rs3795737
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; 3'-5'-exoribonuclease activity [GO:0000175]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:18065403}.


uniprotID: Q969J5
geneSymbol: IL22RA2
reactome: R-HSA-8854691;
pdb: 3G9V;
length: 263
go: ENSG00000164485;
snps: rs28385692 rs28362173
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12700595}.
name:
Interleukin-22 receptor subunit alpha-2 (IL-22 receptor subunit alpha-2) (IL-22R-alpha-2) (IL-22RA2) (Cytokine receptor class-II member 10) (Cytokine receptor family 2 member 10) (CRF2-10) (Cytokine receptor family type 2, soluble 1) (CRF2-S1) (Interleukin-22-binding protein) (IL-22BP) (IL22BP) (ZcytoR16)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; interleukin-22 binding [GO:0042017]; interleukin-22 receptor activity [GO:0042018]; cytokine-mediated signaling pathway [GO:0019221]; negative regulation of inflammatory response [GO:0050728]; regulation of tyrosine phosphorylation of STAT protein [GO:0042509]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long, CRF2-10L, CRF2-s1-long; IsoId=Q969J5-1; Sequence=Displayed; Name=2; Synonyms=Short, CRF2-10, CRF2-s1-short; IsoId=Q969J5-2; Sequence=VSP_013105; Name=3; Synonyms=CRF2-10S; IsoId=Q969J5-3; Sequence=VSP_013105, VSP_013106, VSP_013107; 


uniprotID: Q96BM0
geneSymbol: IFI27L1
pdb: 2LOQ;
length: 104
go: ENSG00000165948;
snps: rs57677258
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
name:
Interferon alpha-inducible protein 27-like protein 1 (Interferon-stimulated gene 12c protein) (ISG12(c)) (ISG12C)

sequence:
MGKESGWDSGRAAVAAVVGGVVAVGTVLVALSAMGFTSVGIAASSIAAKMMSTAAIANGGGVAAGSLVAILQSVGAAGLSVTSKVIGGFAGTALGAWLGSPPSS

opentargets:
integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]


uniprotID: Q9Y2F5
geneSymbol: ICE1
reactome: R-HSA-6807505;
name: Little elongation complex subunit 1 (Interactor of little elongator complex ELL subunit 1)
length: 2266
go: ENSG00000164151;
snps: rs2619844 rs10475299 rs2578500 rs3806873 rs3806874 rs10065646 rs3747731
sequence:

opentargets:
Cajal body [GO:0015030]; histone locus body [GO:0035363]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; transcription elongation factor complex [GO:0008023]; transcriptionally active chromatin [GO:0035327]; protein homodimerization activity [GO:0042803]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of transcription by RNA polymerase III [GO:0045945]; snRNA transcription by RNA polymerase II [GO:0042795]; snRNA transcription by RNA polymerase III [GO:0042796]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22195968, ECO:0000269|PubMed:23932780}. Nucleus, Cajal body {ECO:0000269|PubMed:23932780}. Note=Colocalizes with COIL in subnuclear Cajal and histone locus bodies. Associates to transcriptionally active chromatin at snRNA genes. {ECO:0000269|PubMed:23932780}.


uniprotID: Q659A1
geneSymbol: ICE2
reactome: R-HSA-6807505;
length: 982
go: ENSG00000128915;
name:
Little elongation complex subunit 2 (Interactor of little elongator complex ELL subunit 2) (NMDA receptor-regulated protein 2)

sequence:

opentargets:
Cajal body [GO:0015030]; cytosol [GO:0005829]; histone locus body [GO:0035363]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; transcription elongation factor complex [GO:0008023]; transcriptionally active chromatin [GO:0035327]; positive regulation of transcription by RNA polymerase III [GO:0045945]; snRNA transcription by RNA polymerase II [GO:0042795]; snRNA transcription by RNA polymerase III [GO:0042796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q659A1-1; Sequence=Displayed; Name=2; IsoId=Q659A1-2; Sequence=VSP_041612, VSP_041613; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23932780}. Note=Colocalizes with COIL in subnuclear Cajal and histone locus bodies. Translocates in the LEC complex to Cajal and histone locus bodies at snRNA genes in a ICE1-dependent manner. Associates to transcriptionally active chromatin at snRNA genes.


uniprotID: P54105
geneSymbol: CLNS1A
reactome: R-HSA-191859;
length: 237
go: ENSG00000074201;
name:
Methylosome subunit pICln (Chloride channel, nucleotide sensitive 1A) (Chloride conductance regulatory protein ICln) (I(Cln)) (Chloride ion current inducer protein) (ClCI) (Reticulocyte pICln)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; methylosome [GO:0034709]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pICln-Sm protein complex [GO:0034715]; plasma membrane [GO:0005886]; protein heterodimerization activity [GO:0046982]; RNA binding [GO:0003723]; cell volume homeostasis [GO:0006884]; chloride transport [GO:0006821]; spliceosomal snRNP assembly [GO:0000387]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:21081503}. Nucleus {ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:21081503}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:18984161}. Note=A small fraction is also associated with the cytoskeleton (PubMed:18984161).


uniprotID: Q8IUC8
geneSymbol: GALNT13
reactome: R-HSA-913709;
length: 556
go: ENSG00000144278;
snps: rs34086479
name:
Polypeptide N-acetylgalactosaminyltransferase 13 (EC 2.4.1.41) (Polypeptide GalNAc transferase 13) (GalNAc-T13) (pp-GaNTase 13) (Protein-UDP acetylgalactosaminyltransferase 13) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 13)

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]; O-glycan processing [GO:0016266]; protein O-linked glycosylation via serine [GO:0018242]; protein O-linked glycosylation via threonine [GO:0018243]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IUC8-1; Sequence=Displayed; Name=2; IsoId=Q8IUC8-2; Sequence=VSP_011218, VSP_011219; Note=No experimental confirmation available.; Name=3; IsoId=Q8IUC8-3; Sequence=VSP_054411; Note=No experimental confirmation available.; 


uniprotID: Q96FL9
geneSymbol: GALNT14
reactome: R-HSA-913709;
length: 552
go: ENSG00000158089;
snps: rs2288101
name:
Polypeptide N-acetylgalactosaminyltransferase 14 (EC 2.4.1.41) (Polypeptide GalNAc transferase 14) (GalNAc-T14) (pp-GaNTase 14) (Protein-UDP acetylgalactosaminyltransferase 14) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14)

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]; O-glycan processing [GO:0016266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96FL9-1; Sequence=Displayed; Note=Major isoform.; Name=2; IsoId=Q96FL9-2; Sequence=VSP_011222; Note=No experimental confirmation available.; Name=3; IsoId=Q96FL9-3; Sequence=VSP_011221; Note=Minor isoform.; Name=4; IsoId=Q96FL9-4; Sequence=VSP_045121; 


uniprotID: Q8N3T1
geneSymbol: GALNT15
reactome: R-HSA-913709;
length: 639
go: ENSG00000131386;
snps: rs36026882 rs11715981 rs12634179 rs17851238 rs2271077
name:
Polypeptide N-acetylgalactosaminyltransferase 15 (EC 2.4.1.41) (Polypeptide GalNAc transferase-like protein 2) (GalNAc-T-like protein 2) (pp-GaNTase-like protein 2) (Polypeptide N-acetylgalactosaminyltransferase-like protein 2) (Protein-UDP acetylgalactosaminyltransferase-like protein 2) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 2)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; transport vesicle [GO:0030133]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; polypeptide N-acetylgalactosaminyltransferase activity [GO:0004653]; O-glycan processing [GO:0016266]


uniprotID: Q6IB77
geneSymbol: GLYAT
reactome: R-HSA-177128;R-HSA-177135;
length: 296
go: ENSG00000149124;
drug: DB00145;
snps: rs10896818 rs675815
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22475485}.
name:
Glycine N-acyltransferase (EC 2.3.1.13) (Acyl-CoA:glycine N-acyltransferase) (AAc) (Aralkyl acyl-CoA N-acyltransferase) (Aralkyl acyl-CoA:amino acid N-acyltransferase) (Benzoyl-coenzyme A:glycine N-acyltransferase) (Glycine N-benzoyltransferase) (EC 2.3.1.71) (HRP-1(CLP))

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; glycine N-acyltransferase activity [GO:0047961]; glycine N-benzoyltransferase activity [GO:0047962]; transferase activity, transferring acyl groups [GO:0016746]; acyl-CoA metabolic process [GO:0006637]; benzoyl-CoA metabolic process [GO:1901787]; glycine metabolic process [GO:0006544]; monocarboxylic acid metabolic process [GO:0032787]; response to toxic substance [GO:0009636]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IB77-1; Sequence=Displayed; Name=2; IsoId=Q6IB77-2; Sequence=VSP_024073, VSP_024074; 


uniprotID: Q5T953
geneSymbol: IER5L
name: Immediate early response gene 5-like protein
length: 404
go: ENSG00000188483;
snps: rs184457
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T953-1; Sequence=Displayed; Name=2; IsoId=Q5T953-2; Sequence=VSP_033726, VSP_033727; Note=No experimental confirmation available.; 


uniprotID: Q5VY09
geneSymbol: IER5
name: Immediate early response gene 5 protein
length: 327
go: ENSG00000162783;
snps: rs3747955 rs3747954 rs1416829 rs1361365 rs3747951
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; cellular response to heat [GO:0034605]; positive regulation of cellular response to heat [GO:1900036]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell proliferation [GO:0042127]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25816751}. Cytoplasm {ECO:0000269|PubMed:25816751}. Note=Predominantly cytoplasmic (PubMed:25816751). Translocated in the nucleus during heat shock (PubMed:25816751). {ECO:0000269|PubMed:25816751}.


uniprotID: P46695
geneSymbol: IER3
reactome: R-HSA-6811558;
length: 156
go: ENSG00000137331;
snps: rs3094124
name:
Radiation-inducible immediate-early gene IEX-1 (Differentiation-dependent gene 2 protein) (Protein DIF-2) (Immediate early protein GLY96) (Immediate early response 3 protein) (PACAP-responsive gene 1 protein) (Protein PRG1)

sequence:
MCHSRSCHPTMTILQAPTPAPSTIPGPRRGSGPEIFTFDPLPEPAAAPAGRPSASRGHRKRSRRVLYPRVVRRQLPVEEPNPAKRLLFLLLTIVFCQILMAEEGVPAPLPPEDAPNAASLAPTPVSAVLEPFNLTSEPSDYALDLSTFLQQHPAAF

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; anatomical structure morphogenesis [GO:0009653]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; regulation of response to DNA damage stimulus [GO:2001020]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:12356731}; Single-pass type II membrane protein {ECO:0000269|PubMed:12356731}.


uniprotID: P47813
geneSymbol: EIF1AX
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 1D7Q;3ZJY;4KZY;4KZZ;
length: 144
go: ENSG00000173674;
name:
Eukaryotic translation initiation factor 1A, X-chromosomal (eIF-1A X isoform) (Eukaryotic translation initiation factor 4C) (eIF-4C)

sequence:
MPKNKGKGGKNRRRGKNENESEKRELVFKEDGQEYAQVIKMLGNGRLEAMCFDGVKRLCHIRGKLRKKVWINTSDIILVGLRDYQDNKADVILKYNADEARSLKAYGELPEHAKINETDTFGPGDDDEIQFDDIGDDDEDIDDI

opentargets:
cytosol [GO:0005829]; RNA binding [GO:0003723]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; translational initiation [GO:0006413]


uniprotID: Q8WU03
geneSymbol: GLYATL2
reactome: R-HSA-177128;R-HSA-177135;
length: 294
go: ENSG00000156689;
drug: DB00145;
snps: rs17856514 rs11229651 rs17851433
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:20305126}.
name:
Glycine N-acyltransferase-like protein 2 (EC 2.3.1.13) (Acyl-CoA:glycine N-acyltransferase-like protein 2)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; mitochondrion [GO:0005739]; glycine N-acyltransferase activity [GO:0047961]; long-chain fatty acid catabolic process [GO:0042758]; medium-chain fatty acid catabolic process [GO:0051793]; monounsaturated fatty acid catabolic process [GO:1903965]


uniprotID: P34897
geneSymbol: SHMT2
reactome: R-HSA-196757;
pdb: 4PVF;5V7I;5X3V;6DK3;
length: 504
go: ENSG00000182199;
drug: DB00145;DB00114;DB00116;
name:
Serine hydroxymethyltransferase, mitochondrial (SHMT) (EC 2.1.2.1) (Glycine hydroxymethyltransferase) (Serine methylase)

sequence:

opentargets:
BRISC complex [GO:0070552]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; microtubule cytoskeleton [GO:0015630]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; amino acid binding [GO:0016597]; chromatin binding [GO:0003682]; cobalt ion binding [GO:0050897]; glycine hydroxymethyltransferase activity [GO:0004372]; identical protein binding [GO:0042802]; L-allo-threonine aldolase activity [GO:0008732]; pyridoxal phosphate binding [GO:0030170]; serine binding [GO:0070905]; zinc ion binding [GO:0008270]; cellular response to tetrahydrofolate [GO:1904482]; folic acid metabolic process [GO:0046655]; glycine biosynthetic process from serine [GO:0019264]; glycine metabolic process [GO:0006544]; L-serine biosynthetic process [GO:0006564]; L-serine catabolic process [GO:0006565]; L-serine metabolic process [GO:0006563]; one-carbon metabolic process [GO:0006730]; positive regulation of cell proliferation [GO:0008284]; protein homotetramerization [GO:0051289]; protein K63-linked deubiquitination [GO:0070536]; protein tetramerization [GO:0051262]; regulation of aerobic respiration [GO:1903715]; regulation of mitochondrial translation [GO:0070129]; regulation of oxidative phosphorylation [GO:0002082]; response to type I interferon [GO:0034340]; tetrahydrofolate interconversion [GO:0035999]; tetrahydrofolate metabolic process [GO:0046653]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P34897-1; Sequence=Displayed; Name=2; IsoId=P34897-2; Sequence=VSP_043088; Note=No experimental confirmation available.; Name=3; IsoId=P34897-3; Sequence=VSP_043844; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21876188, ECO:0000269|PubMed:24075985}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:18063578}. Mitochondrion inner membrane {ECO:0000269|PubMed:21876188}. Cytoplasm {ECO:0000269|PubMed:24075985}. Nucleus {ECO:0000269|PubMed:24075985}. Note=Mainly localizes in the mitochondrion. Also found in the cytoplasm and nucleus as part of the BRISC complex (PubMed:24075985). {ECO:0000269|PubMed:24075985}.


uniprotID: Q9UKD1
geneSymbol: GMEB2
length: 530
go: ENSG00000101216;
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=May be also cytoplasmic.
name:
Glucocorticoid modulatory element-binding protein 2 (GMEB-2) (DNA-binding protein p79PIF) (Parvovirus initiation factor p79) (PIF p79)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]


uniprotID: O15488
geneSymbol: GYG2
reactome: R-HSA-3322077;R-HSA-3785653;R-HSA-3858516;R-HSA-3878781;R-HSA-70221;
pdb: 4UEG;
name: Glycogenin-2 (GN-2) (GN2) (EC 2.4.1.186)
length: 501
go: ENSG00000056998;
snps: rs11797037 rs200824650 rs2306734 rs2306735 rs17330993
sequence:

opentargets:
cytosol [GO:0005829]; glycogenin glucosyltransferase activity [GO:0008466]; UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity [GO:0102751]; glycogen biosynthetic process [GO:0005978]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=Alpha; IsoId=O15488-1; Sequence=Displayed; Name=Beta; IsoId=O15488-2; Sequence=VSP_001770; Name=Gamma; IsoId=O15488-3; Sequence=VSP_001771; Name=Delta; IsoId=O15488-4; Sequence=VSP_001772; Name=Epsilon; IsoId=O15488-5; Sequence=VSP_001773; Name=Zeta; IsoId=O15488-6; Sequence=VSP_001774; 


uniprotID: P63096
geneSymbol: GNAI1
pdb: 1KJY;1Y3A;2G83;2GTP;2IK8;2OM2;2XNS;3ONW;3QE0;3QI2;3UMR;3UMS;4G5Q;5JS7;5JS8;5TDH;6CMO;6DDE;6DDF;
length: 354
go: ENSG00000127955;
drug: DB04315;DB04444;
reactome:
R-HSA-112043;R-HSA-170670;R-HSA-202040;R-HSA-392170;R-HSA-400042;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-422356;R-HSA-6814122;

name:
Guanine nucleotide-binding protein G(i) subunit alpha-1 (Adenylate cyclase-inhibiting G alpha protein)

sequence:

opentargets:
cell cortex region [GO:0099738]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; heterotrimeric G-protein complex [GO:0005834]; lysosomal membrane [GO:0005765]; midbody [GO:0030496]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; G protein-coupled receptor binding [GO:0001664]; G protein-coupled serotonin receptor binding [GO:0031821]; G-protein beta/gamma-subunit complex binding [GO:0031683]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; magnesium ion binding [GO:0000287]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular response to forskolin [GO:1904322]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of protein localization to cell cortex [GO:1904778]; protein folding [GO:0006457]; regulation of cAMP-mediated signaling [GO:0043949]; regulation of mitotic spindle organization [GO:0060236]; response to peptide hormone [GO:0043434]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P63096-1; Sequence=Displayed; Name=2; IsoId=P63096-2; Sequence=VSP_045215; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P10824}. Cytoplasm {ECO:0000269|PubMed:17635935}. Cell membrane {ECO:0000269|PubMed:17635935, ECO:0000269|PubMed:26766442}; Peripheral membrane protein {ECO:0000250|UniProtKB:P10824}; Cytoplasmic side {ECO:0000250|UniProtKB:P10824}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17635935}. Cytoplasm, cell cortex {ECO:0000269|PubMed:22327364}. Membrane {ECO:0000250|UniProtKB:P10824}; Lipid-anchor {ECO:0000269|PubMed:20213681, ECO:0000269|PubMed:25255805}. Note=Localizes in the centrosomes of interphase and mitotic cells, but not in centrosomes during cytokinesis. Detected at the cleavage furrow or the midbody (PubMed:17635935). Localized at the plasma membrane throughout mitosis. Colocalizes with RIC8A and RGS14 at the plasma membrane. {ECO:0000250|UniProtKB:P10824, ECO:0000269|PubMed:17635935}.


uniprotID: Q12967
geneSymbol: RALGDS
reactome: R-HSA-171007;
pdb: 1RAX;2B3A;2RGF;3KH0;
length: 914
go: ENSG00000160271;
name:
Ral guanine nucleotide dissociation stimulator (RalGDS) (Ral guanine nucleotide exchange factor) (RalGEF)

sequence:

opentargets:
brush border [GO:0005903]; cytosol [GO:0005829]; nucleus [GO:0005634]; GTPase regulator activity [GO:0030695]; guanyl-nucleotide exchange factor activity [GO:0005085]; Ras protein signal transduction [GO:0007265]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q12967-1; Sequence=Displayed; Name=2; IsoId=Q12967-2; Sequence=VSP_035301; Note=No experimental confirmation available.; Name=3; IsoId=Q12967-3; Sequence=VSP_043659; Name=4; IsoId=Q12967-4; Sequence=VSP_055215, VSP_055217; Note=No experimental confirmation available.; Name=5; IsoId=Q12967-5; Sequence=VSP_055216; Note=No experimental confirmation available. {ECO:0000305}; Name=6; IsoId=Q12967-6; Sequence=VSP_055217; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q03385}. Nucleus {ECO:0000250|UniProtKB:Q03385}. Note=Localizes mainly in the peripheral region of the cytoplasmic membrane in oocytes and in preimplantation embryos until the 8-cell stage. Between the late 1-cell and the early 2-cell stages, nuclear localization becomes stronger. After the 4-cell stage, not detected in the nucleus. {ECO:0000250|UniProtKB:Q03385}.


uniprotID: P04899
geneSymbol: GNAI2
pdb: 6D9H;
length: 355
go: ENSG00000114353;
reactome:
R-HSA-112043;R-HSA-170670;R-HSA-202040;R-HSA-392170;R-HSA-400042;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-422356;R-HSA-6814122;

name:
Guanine nucleotide-binding protein G(i) subunit alpha-2 (Adenylate cyclase-inhibiting G alpha protein)

sequence:

opentargets:
cell body [GO:0044297]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; heterotrimeric G-protein complex [GO:0005834]; membrane [GO:0016020]; membrane raft [GO:0045121]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; 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]; adenosine receptor signaling pathway [GO:0001973]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cell cycle [GO:0007049]; cell division [GO:0051301]; cell proliferation [GO:0008283]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; G protein-coupled receptor signaling pathway [GO:0007186]; gamma-aminobutyric acid signaling pathway [GO:0007214]; negative regulation of adenylate cyclase activity [GO:0007194]; negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process [GO:0140199]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of calcium ion-dependent exocytosis [GO:0045955]; negative regulation of protein tyrosine phosphatase activity [GO:1903614]; negative regulation of synaptic transmission [GO:0050805]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of insulin receptor signaling pathway [GO:0046628]; positive regulation of NAD(P)H oxidase activity [GO:0033864]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of superoxide anion generation [GO:0032930]; positive regulation of urine volume [GO:0035810]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; protein folding [GO:0006457]; regulation of calcium ion transport [GO:0051924]; response to nutrient [GO:0007584]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=P04899-1; Sequence=Displayed; Name=2; IsoId=P04899-2; Sequence=VSP_017497; Name=3; IsoId=P04899-3; Sequence=VSP_043473; Note=No experimental confirmation available.; Name=sGi2; Synonyms=sGalphai2; IsoId=P04899-4; Sequence=VSP_043903; Name=5; IsoId=P04899-5; Sequence=VSP_054789; Note=No experimental confirmation available.; Name=6; IsoId=P04899-6; Sequence=VSP_054788; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17635935}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17635935}. Cell membrane {ECO:0000269|PubMed:17635935}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=Localizes in the centrosomes of interphase and mitotic cells. Detected at the cleavage furrow and/or the midbody.


uniprotID: O95837
geneSymbol: GNA14
reactome: R-HSA-399997;R-HSA-416476;R-HSA-418592;R-HSA-428930;R-HSA-434316;R-HSA-456926;
name: Guanine nucleotide-binding protein subunit alpha-14 (G alpha-14) (G-protein subunit alpha-14)
length: 355
go: ENSG00000156049;
sequence:

opentargets:
extracellular exosome [GO:0070062]; 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]; 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]; platelet activation [GO:0030168]; signal transduction [GO:0007165]


uniprotID: P38405
geneSymbol: GNAL
reactome: R-HSA-170660;R-HSA-170670;R-HSA-381753;
length: 381
go: ENSG00000141404;
snps: rs1039372506 rs398122923 rs398122925
name:
Guanine nucleotide-binding protein G(olf) subunit alpha (Adenylate cyclase-stimulating G alpha protein, olfactory type)

sequence:

opentargets:
extracellular exosome [GO:0070062]; 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]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; sensory perception of smell [GO:0007608]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P38405-1; Sequence=Displayed; Name=2; IsoId=P38405-2; Sequence=VSP_043050; Note=No experimental confirmation available.; Name=3; IsoId=P38405-3; Sequence=VSP_045130; 


uniprotID: P19087
geneSymbol: GNAT2
reactome: R-HSA-112043;R-HSA-202040;R-HSA-4086398;R-HSA-418594;R-HSA-6814122;
name: Guanine nucleotide-binding protein G(t) subunit alpha-2 (Transducin alpha-2 chain)
length: 354
go: ENSG00000134183;
snps: rs3738766 rs41280330 rs1799940
sequence:

opentargets:
heterotrimeric G-protein complex [GO:0005834]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; photoreceptor outer segment membrane [GO:0042622]; plasma membrane [GO:0005886]; G protein-coupled photoreceptor activity [GO:0008020]; 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]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; detection of light stimulus involved in visual perception [GO:0050908]; G protein-coupled receptor signaling pathway [GO:0007186]; phototransduction [GO:0007602]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; protein folding [GO:0006457]; response to light intensity [GO:0009642]; retinal cone cell development [GO:0046549]; visual perception [GO:0007601]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]


uniprotID: P24046
geneSymbol: GABRR1
reactome: R-HSA-977442;
name: Gamma-aminobutyric acid receptor subunit rho-1 (GABA(A) receptor subunit rho-1) (GABA(C) receptor)
length: 479
go: ENSG00000146276;
snps: rs12200969 rs1186902
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; GABA-A receptor complex [GO:1902711]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; chloride channel activity [GO:0005254]; GABA-A receptor activity [GO:0004890]; ligand-gated ion channel activity involved in regulation of presynaptic membrane potential [GO:0099507]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; 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;DB00466;DB01588;DB01589;DB00231;DB00897;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P24046-1; Sequence=Displayed; Name=2; IsoId=P24046-2; Sequence=VSP_036363; Note=No experimental confirmation available.; Name=3; IsoId=P24046-3; Sequence=VSP_046665; Note=No experimental confirmation available.; 


uniprotID: Q9UJY4
geneSymbol: GGA2
reactome: R-HSA-8854214;R-HSA-977225;
pdb: 1MHQ;
length: 613
go: ENSG00000103365;
snps: rs1135045
name:
ADP-ribosylation factor-binding protein GGA2 (Gamma-adaptin-related protein 2) (Golgi-localized, gamma ear-containing, ARF-binding protein 2) (VHS domain and ear domain of gamma-adaptin) (Vear)

sequence:

opentargets:
clathrin adaptor complex [GO:0030131]; clathrin-coated vesicle [GO:0030136]; early endosome membrane [GO:0031901]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; trans-Golgi network [GO:0005802]; ADP-ribosylation factor binding [GO:0030306]; cellular protein metabolic process [GO:0044267]; intracellular protein transport [GO:0006886]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:15039775}; Peripheral membrane protein {ECO:0000269|PubMed:15039775}. Endosome membrane {ECO:0000269|PubMed:15039775}; Peripheral membrane protein {ECO:0000269|PubMed:15039775}.


uniprotID: Q96D96
geneSymbol: HVCN1
reactome: R-HSA-1300642;R-HSA-6798695;
pdb: 3A2A;
length: 273
go: ENSG00000122986;
name:
Voltage-gated hydrogen channel 1 (Hydrogen voltage-gated channel 1) (HV1) (Voltage sensor domain-only protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; specific granule membrane [GO:0035579]; identical protein binding [GO:0042802]; voltage-gated cation channel activity [GO:0022843]; voltage-gated proton channel activity [GO:0030171]; cellular response to pH [GO:0071467]; cellular response to zinc ion [GO:0071294]; neutrophil degranulation [GO:0043312]; proton transmembrane transport [GO:1902600]; regulation of ion transmembrane transport [GO:0034765]; response to pH [GO:0009268]; response to zinc ion [GO:0010043]; sperm-egg recognition [GO:0035036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96D96-1; Sequence=Displayed; Name=2; IsoId=Q96D96-2; Sequence=VSP_034395; Name=3; IsoId=Q96D96-3; Sequence=VSP_034396; Note=No experimental confirmation available.; Name=4; IsoId=Q96D96-4; Sequence=VSP_045052; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Detected mainly at intracellular membranes upon overexpression in HeLa cells (PuMed:20147290), but not in other cell types.


uniprotID: Q13261
geneSymbol: IL15RA
reactome: R-HSA-8983432;
pdb: 2ERS;2Z3Q;2Z3R;4GS7;
length: 267
go: ENSG00000134470;
snps: rs2228059
name:
Interleukin-15 receptor subunit alpha (IL-15 receptor subunit alpha) (IL-15R-alpha) (IL-15RA) (CD antigen CD215) [Cleaved into: Soluble interleukin-15 receptor subunit alpha (sIL-15 receptor subunit alpha) (sIL-15R-alpha) (sIL-15RA)]

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; cytokine receptor activity [GO:0004896]; cell proliferation [GO:0008283]; interleukin-15-mediated signaling pathway [GO:0035723]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=Q13261-1; Sequence=Displayed; Name=2; Synonyms=delta3E1E7Il-15RA; IsoId=Q13261-3; Sequence=VSP_012625; Name=3; Synonyms=E1E7'Il-15RA; IsoId=Q13261-4; Sequence=VSP_012626; Name=4; Synonyms=delta3E1E7'Il-15RA; IsoId=Q13261-5; Sequence=VSP_012625, VSP_012626; Name=5; Synonyms=delta2E1E7Il-15RA; IsoId=Q13261-6; Sequence=VSP_012624; Name=6; Synonyms=delta2E1E7'Il-15RA; IsoId=Q13261-7; Sequence=VSP_012624, VSP_012626; Name=7; Synonyms=delta2deltaE1E73Il-15RA; IsoId=Q13261-8; Sequence=VSP_012623; Name=8; Synonyms=delta2delta3E1E7'Il-15RA; IsoId=Q13261-9; Sequence=VSP_012623, VSP_012626; Name=9; IsoId=Q13261-10; Sequence=VSP_055406; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10480910}; Single-pass type I membrane protein {ECO:0000269|PubMed:10480910}. Nucleus membrane {ECO:0000269|PubMed:10480910}; Single-pass type I membrane protein {ECO:0000269|PubMed:10480910}. Note=Mainly found associated with the nuclear membrane.; SUBCELLULAR LOCATION: Isoform 5: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Cytoplasmic vesicle membrane; Single-pass type I membrane protein. Membrane; Single-pass type I membrane protein. Note=Isoform 5, isoform 6, isoform 7 and isoform 8 are associated with endoplasmic reticulum, Golgi and cytoplasmic vesicles, but not with the nuclear membrane.; SUBCELLULAR LOCATION: Isoform 6: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Cytoplasmic vesicle membrane; Single-pass type I membrane protein. Membrane; Single-pass type I membrane protein. Note=Isoform 5, isoform 6, isoform 7 and isoform 8 are associated with endoplasmic reticulum, Golgi and cytoplasmic vesicles, but not with the nuclear membrane.; SUBCELLULAR LOCATION: Isoform 7: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Cytoplasmic vesicle membrane; Single-pass type I membrane protein. Membrane; Single-pass type I membrane protein. Note=Isoform 5, isoform 6, isoform 7 and isoform 8 are associated with endoplasmic reticulum, Golgi and cytoplasmic vesicles, but not with the nuclear membrane.; SUBCELLULAR LOCATION: Isoform 8: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Cytoplasmic vesicle membrane; Single-pass type I membrane protein. Membrane; Single-pass type I membrane protein. Note=Isoform 5, isoform 6, isoform 7 and isoform 8 are associated with endoplasmic reticulum, Golgi and cytoplasmic vesicles, but not with the nuclear membrane.; SUBCELLULAR LOCATION: Soluble interleukin-15 receptor subunit alpha: Secreted, extracellular space.


uniprotID: Q9UHF4
geneSymbol: IL20RA
reactome: R-HSA-8854691;
pdb: 4DOH;
length: 553
go: ENSG00000016402;
snps: rs1555498 rs1342642
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
name:
Interleukin-20 receptor subunit alpha (IL-20 receptor subunit alpha) (IL-20R-alpha) (IL-20RA) (Cytokine receptor class-II member 8) (Cytokine receptor family 2 member 8) (CRF2-8) (IL-20R1) (ZcytoR7)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; interleukin-20 binding [GO:0042015]; cytokine-mediated signaling pathway [GO:0019221]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; regulation of bone resorption [GO:0045124]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UHF4-1; Sequence=Displayed; Name=2; IsoId=Q9UHF4-2; Sequence=VSP_011497, VSP_011498; Name=3; IsoId=Q9UHF4-3; Sequence=VSP_054741; Note=No experimental confirmation available.; 


uniprotID: P14902
geneSymbol: IDO1
reactome: R-HSA-71240;
name: Indoleamine 2,3-dioxygenase 1 (IDO-1) (EC 1.13.11.52) (Indoleamine-pyrrole 2,3-dioxygenase)
length: 403
go: ENSG00000131203;
drug: DB00150;DB01065;
snps: rs35059413
pdb:
2D0T;2D0U;4PK5;4PK6;4U72;4U74;5EK2;5EK3;5EK4;5ETW;5WHR;5WMU;5WMV;5WMW;5WMX;5WN8;5XE1;6AZU;6AZV;6AZW;6CXU;6CXV;6E35;6F0A;

sequence:

opentargets:
cytosol [GO:0005829]; smooth muscle contractile fiber [GO:0030485]; stereocilium bundle [GO:0032421]; electron transfer activity [GO:0009055]; heme binding [GO:0020037]; indoleamine 2,3-dioxygenase activity [GO:0033754]; metal ion binding [GO:0046872]; tryptophan 2,3-dioxygenase activity [GO:0004833]; cytokine production involved in inflammatory response [GO:0002534]; female pregnancy [GO:0007565]; immune system process [GO:0002376]; kynurenic acid biosynthetic process [GO:0034276]; multicellular organismal response to stress [GO:0033555]; negative regulation of interleukin-10 production [GO:0032693]; negative regulation of T cell apoptotic process [GO:0070233]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of chronic inflammatory response [GO:0002678]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of T cell apoptotic process [GO:0070234]; positive regulation of T cell tolerance induction [GO:0002666]; positive regulation of type 2 immune response [GO:0002830]; response to lipopolysaccharide [GO:0032496]; swimming behavior [GO:0036269]; tryptophan catabolic process [GO:0006569]; tryptophan catabolic process to kynurenine [GO:0019441]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P28776, ECO:0000303|PubMed:25691885}.


uniprotID: Q6ZQW0
geneSymbol: IDO2
reactome: R-HSA-71240;
length: 420
go: ENSG00000188676;
snps: rs10109853
name:
Indoleamine 2,3-dioxygenase 2 (IDO-2) (EC 1.13.11.-) (Indoleamine 2,3-dioxygenase-like protein 1) (Indoleamine-pyrrole 2,3-dioxygenase-like protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; heme binding [GO:0020037]; indoleamine 2,3-dioxygenase activity [GO:0033754]; metal ion binding [GO:0046872]; tryptophan 2,3-dioxygenase activity [GO:0004833]; immune system process [GO:0002376]; tryptophan catabolic process [GO:0006569]; tryptophan catabolic process to kynurenine [GO:0019441]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms exist at least in placenta and brain. {ECO:0000269|PubMed:17671174, ECO:0000303|PubMed:25477879}; Name=1; IsoId=Q6ZQW0-1; Sequence=Displayed; Name=2; IsoId=Q6ZQW0-2; Sequence=VSP_024858, VSP_024859; 


uniprotID: Q8IU81
geneSymbol: IRF2BP1
length: 584
go: ENSG00000170604;
snps: rs11550349
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12799427}.
name:
Interferon regulatory factor 2-binding protein 1 (IRF-2-binding protein 1) (IRF-2BP1) (Probable E3 ubiquitin-protein ligase IRF2BP1) (EC 2.3.2.27) (Probable RING-type E3 ubiquitin transferase IRF2BP1)

sequence:

opentargets:
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]; transferase activity [GO:0016740]


uniprotID: Q96EK6
geneSymbol: GNPNAT1
reactome: R-HSA-446210;
pdb: 2HUZ;2O28;3CXP;3CXQ;3CXS;
length: 184
go: ENSG00000100522;
name:
Glucosamine 6-phosphate N-acetyltransferase (EC 2.3.1.4) (Phosphoglucosamine acetylase) (Phosphoglucosamine transacetylase)

sequence:
MKPDETPMFDPSLLKEVDWSQNTATFSPAISPTHPGEGLVLRPLCTADLNRGFFKVLGQLTETGVVSPEQFMKSFEHMKKSGDYYVTVVEDVTLGQIVATATLIIEHKFIHSCAKRGRVEDVVVSDECRGKQLGKLLLSTLTLLSKKLNCYKITLECLPQNVGFYKKFGYTVSEENYMCRRFLK

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; late endosome [GO:0005770]; glucosamine 6-phosphate N-acetyltransferase activity [GO:0004343]; identical protein binding [GO:0042802]; monosaccharide binding [GO:0048029]; cellular response to leukemia inhibitory factor [GO:1990830]; glucosamine metabolic process [GO:0006041]; liver development [GO:0001889]; N-acetylglucosamine biosynthetic process [GO:0006045]; UDP-N-acetylglucosamine biosynthetic process [GO:0006048]

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


uniprotID: P36915
geneSymbol: GNL1
name: Guanine nucleotide-binding protein-like 1 (GTP-binding protein HSR1)
length: 607
go: ENSG00000204590;
sequence:

opentargets:
extracellular space [GO:0005615]; nucleus [GO:0005634]; GTP binding [GO:0005525]; structural molecule activity [GO:0005198]; cellular response to DNA damage stimulus [GO:0006974]; signal transduction [GO:0007165]; T cell mediated immunity [GO:0002456]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P36915-1; Sequence=Displayed; Name=2; IsoId=P36915-2; Sequence=VSP_026992, VSP_026993; 


uniprotID: Q9NVN8
geneSymbol: GNL3L
name: Guanine nucleotide-binding protein-like 3-like protein
length: 582
go: ENSG00000130119;
snps: rs2298284
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:17034816}.
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; telomerase holoenzyme complex [GO:0005697]; GTP binding [GO:0005525]; RNA binding [GO:0003723]; negative regulation of protein binding [GO:0032091]; negative regulation of protein sumoylation [GO:0033234]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of telomere maintenance via telomerase [GO:0032211]; positive regulation of protein homodimerization activity [GO:0090073]; positive regulation of protein localization to chromosome, telomeric region [GO:1904816]; regulation of protein stability [GO:0031647]; ribosome biogenesis [GO:0042254]


uniprotID: H3BPF8
geneSymbol: GOLGA8S
name: Golgin subfamily A member 8S
length: 625
sequence:


uniprotID: P46926
geneSymbol: GNPDA1
reactome: R-HSA-70171;
pdb: 1NE7;
length: 289
go: ENSG00000113552;
drug: DB03951;DB02445;DB02379;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Glucosamine-6-phosphate isomerase 1 (EC 3.5.99.6) (Glucosamine-6-phosphate deaminase 1) (GNPDA 1) (GlcN6P deaminase 1) (Oscillin)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glucosamine-6-phosphate deaminase activity [GO:0004342]; identical protein binding [GO:0042802]; carbohydrate metabolic process [GO:0005975]; generation of precursor metabolites and energy [GO:0006091]; glucosamine catabolic process [GO:0006043]; N-acetylglucosamine catabolic process [GO:0006046]; N-acetylneuraminate catabolic process [GO:0019262]; single fertilization [GO:0007338]; UDP-N-acetylglucosamine biosynthetic process [GO:0006048]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P46926-1; Sequence=Displayed; Name=2; IsoId=P46926-2; Sequence=VSP_057011; Note=No experimental confirmation available.; 


uniprotID: Q8N0V5
geneSymbol: GCNT2
length: 402
go: ENSG00000111846;
snps: rs137853339 rs137853340 rs56141211 rs55940927
name:
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase (N-acetylglucosaminyltransferase) (EC 2.4.1.150) (I-branching enzyme) (IGNT)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity [GO:0008109]; glycosaminoglycan biosynthetic process [GO:0006024]; maintenance of lens transparency [GO:0036438]; multicellular organism development [GO:0007275]; negative regulation of cell-substrate adhesion [GO:0010812]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of heterotypic cell-cell adhesion [GO:0034116]; positive regulation of protein kinase B signaling [GO:0051897]; posttranscriptional regulation of gene expression [GO:0010608]; protein glycosylation [GO:0006486]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Isoforms A, B and C have different exons 1, but identical exons 2 and 3.; Name=A; Synonyms=IGnTA, IGNT1; IsoId=Q8N0V5-1; Sequence=Displayed; Name=B; Synonyms=IGnTB, IGNT2; IsoId=Q8N0V5-2; Sequence=VSP_058348; Name=C; Synonyms=IGnTC, IGNT3; IsoId=Q8N0V5-3; Sequence=VSP_058347; 


uniprotID: Q9NYA3
geneSymbol: GOLGA6A
name: Golgin subfamily A member 6A (Golgin linked to PML) (Golgin-like protein)
length: 693
go: ENSG00000159289;
snps: rs2018461
sequence:


uniprotID: P19086
geneSymbol: GNAZ
reactome: R-HSA-112043;R-HSA-202040;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-6814122;
name: Guanine nucleotide-binding protein G(z) subunit alpha (G(x) alpha chain) (Gz-alpha)
length: 355
go: ENSG00000128266;
location: SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
sequence:

opentargets:
cell body [GO:0044297]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; heterotrimeric G-protein complex [GO:0005834]; nuclear envelope [GO:0005635]; plasma membrane [GO:0005886]; 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 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]; G protein-coupled receptor signaling pathway [GO:0007186]; protein folding [GO:0006457]


uniprotID: Q0D2H9
geneSymbol: GOLGA8DP
name: Putative golgin subfamily A member 8D
length: 430
sequence:


uniprotID: Q08AF8
geneSymbol: GOLGA8F; GOLGA8G
name: Putative golgin subfamily A member 8F/8G
length: 430
go: ENSG00000153684;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q08AF8-1; Sequence=Displayed; Name=2; IsoId=Q08AF8-2; Sequence=VSP_035081; Note=No experimental confirmation available.; Name=3; IsoId=Q08AF8-3; Sequence=VSP_037944; 


uniprotID: P0CJ92
geneSymbol: GOLGA8H
name: Golgin subfamily A member 8H
length: 632
go: ENSG00000261794;
sequence:


uniprotID: P51810
geneSymbol: GPR143
reactome: R-HSA-375280;R-HSA-416476;
name: G-protein coupled receptor 143 (Ocular albinism type 1 protein)
length: 404
go: ENSG00000101850;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; melanosome [GO:0042470]; melanosome membrane [GO:0033162]; membrane [GO:0016020]; plasma membrane [GO:0005886]; dopamine binding [GO:0035240]; G protein-coupled receptor activity [GO:0004930]; L-DOPA binding [GO:0072544]; L-DOPA receptor activity [GO:0035643]; tyrosine binding [GO:0072545]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; eye pigment biosynthetic process [GO:0006726]; G protein-coupled receptor signaling pathway [GO:0007186]; melanosome localization [GO:0032400]; melanosome organization [GO:0032438]; melanosome transport [GO:0032402]; phosphatidylinositol-mediated signaling [GO:0048015]; regulation of calcium-mediated signaling [GO:0050848]; regulation of melanosome organization [GO:1903056]; regulation of melanosome transport [GO:1902908]; signal transduction [GO:0007165]; visual perception [GO:0007601]

snps:
rs62635289 rs62635018 rs62635019 rs62635024 rs62635025 rs62635027 rs62635026 rs137852298 rs62635030 rs62635029 rs62635031 rs62635032 rs137852296 rs62635762 rs58933950 rs62635035 rs199899645 rs62635037 rs137852297 rs62635038 rs62635040 rs62635043 rs62635046 rs62635045 

location:
SUBCELLULAR LOCATION: Melanosome membrane {ECO:0000269|PubMed:10471510, ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:16524428, ECO:0000269|PubMed:16621890, ECO:0000269|PubMed:17081065}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:16524428, ECO:0000269|PubMed:16621890}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000269|PubMed:18828673}; Multi-pass membrane protein {ECO:0000255}. Note=Distributed throughout the endo-melanosomal system but most of endogenous protein is localized in unpigmented stage II melanosomes. Its expression on the apical cell membrane is sensitive to tyrosine (PubMed:18828673). {ECO:0000269|PubMed:18828673}.


uniprotID: Q86SP6
geneSymbol: GPR149
name: Probable G-protein coupled receptor 149 (G-protein coupled receptor PGR10)
length: 731
go: ENSG00000174948;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; G protein-coupled receptor activity [GO:0004930]; melanin-concentrating hormone receptor activity [GO:0030273]; neuropeptide binding [GO:0042923]; antral ovarian follicle growth [GO:0001547]; negative regulation of ovulation [GO:0060280]; neuropeptide signaling pathway [GO:0007218]; preantral ovarian follicle growth [GO:0001546]


uniprotID: Q8TDV0
geneSymbol: GPR151
name: Probable G-protein coupled receptor 151 (G-protein coupled receptor PGR7) (GPCR-2037)
length: 419
snps: rs17104742 rs7713676 rs7709485
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

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


uniprotID: Q6NV75
geneSymbol: GPR153
name: Probable G-protein coupled receptor 153 (G-protein coupled receptor PGR1)
length: 609
go: ENSG00000158292;
snps: rs12735670
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P32249
geneSymbol: GPR183
reactome: R-HSA-373076;R-HSA-418594;
length: 361
go: ENSG00000169508;
snps: rs1466524306
name:
G-protein coupled receptor 183 (Epstein-Barr virus-induced G-protein coupled receptor 2) (EBI2) (EBV-induced G-protein coupled receptor 2) (hEBI2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; oxysterol binding [GO:0008142]; adaptive immune response [GO:0002250]; dendritic cell chemotaxis [GO:0002407]; dendritic cell homeostasis [GO:0036145]; G protein-coupled receptor signaling pathway [GO:0007186]; humoral immune response [GO:0006959]; immune response [GO:0006955]; leukocyte chemotaxis [GO:0030595]; mature B cell differentiation involved in immune response [GO:0002313]; osteoclast differentiation [GO:0030316]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; regulation of astrocyte chemotaxis [GO:2000458]; T cell chemotaxis [GO:0010818]; T follicular helper cell differentiation [GO:0061470]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16540462, ECO:0000269|PubMed:18628402, ECO:0000269|PubMed:21673108, ECO:0000269|PubMed:22930711}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P46199
geneSymbol: MTIF2
reactome: R-HSA-5368286;
pdb: 6GAW;6GAZ;6GB2;
name: Translation initiation factor IF-2, mitochondrial (IF-2(Mt)) (IF-2Mt) (IF2(mt))
length: 727
go: ENSG00000085760;
snps: rs1056445 rs11357
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; ribosomal small subunit binding [GO:0043024]; RNA binding [GO:0003723]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; mitochondrial translational initiation [GO:0070124]; regulation of translational initiation [GO:0006446]; ribosome disassembly [GO:0032790]


uniprotID: O95872
geneSymbol: GPANK1
length: 356
go: ENSG00000204438;
opentargets: nucleic acid binding [GO:0003676]
snps: rs3130618 rs35265780 rs34082689 rs2295666
name:
G patch domain and ankyrin repeat-containing protein 1 (Ankyrin repeat domain-containing protein 59) (G patch domain-containing protein 10) (HLA-B-associated transcript 4) (Protein G5)

sequence:


uniprotID: Q9HCL2
geneSymbol: GPAM
reactome: R-HSA-1483166;R-HSA-2426168;R-HSA-75109;R-HSA-8931987;R-HSA-9018519;
name: Glycerol-3-phosphate acyltransferase 1, mitochondrial (GPAT-1) (EC 2.3.1.15)
length: 828
go: ENSG00000119927;
snps: rs11549703 rs2792751 rs10787428 rs35019520
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrial outer membrane [GO:0005741]; plasma membrane [GO:0005886]; glycerol-3-phosphate O-acyltransferase activity [GO:0004366]; sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity [GO:0102420]; acyl-CoA metabolic process [GO:0006637]; CDP-diacylglycerol biosynthetic process [GO:0016024]; defense response to virus [GO:0051607]; fatty acid homeostasis [GO:0055089]; fatty acid metabolic process [GO:0006631]; glycerol-3-phosphate metabolic process [GO:0006072]; interleukin-2 secretion [GO:0070970]; negative regulation of activation-induced cell death of T cells [GO:0070236]; phosphatidic acid biosynthetic process [GO:0006654]; phospholipid biosynthetic process [GO:0008654]; phospholipid homeostasis [GO:0055091]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of multicellular organism growth [GO:0040018]; regulation of cholesterol biosynthetic process [GO:0045540]; regulation of cytokine secretion [GO:0050707]; regulation of intracellular estrogen receptor signaling pathway [GO:0033146]; response to glucose [GO:0009749]; triglyceride biosynthetic process [GO:0019432]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250|UniProtKB:P97564}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P97564}.


uniprotID: Q6NUI2
geneSymbol: GPAT2
reactome: R-HSA-1483166;R-HSA-75109;
name: Glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT-2) (EC 2.3.1.15) (xGPAT1)
length: 795
go: ENSG00000186281;
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; glycerol-3-phosphate O-acyltransferase activity [GO:0004366]; sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity [GO:0102420]; CDP-diacylglycerol biosynthetic process [GO:0016024]; fatty acid metabolic process [GO:0006631]; glycerol-3-phosphate metabolic process [GO:0006072]; phosphatidic acid biosynthetic process [GO:0006654]; phospholipid biosynthetic process [GO:0008654]; piRNA biosynthetic process [GO:1990511]; triglyceride biosynthetic process [GO:0019432]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6NUI2-1; Sequence=Displayed; Name=2; IsoId=Q6NUI2-3; Sequence=VSP_032453, VSP_032454; Note=No experimental confirmation available.; Name=3; IsoId=Q6NUI2-4; Sequence=VSP_032452; Note=No experimental confirmation available.; Name=4; IsoId=Q6NUI2-5; Sequence=VSP_032450, VSP_032451; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250|UniProtKB:Q14DK4}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q14DK4}.


uniprotID: Q53EU6
geneSymbol: GPAT3
reactome: R-HSA-1483166;
length: 434
go: ENSG00000138678;
name:
Glycerol-3-phosphate acyltransferase 3 (GPAT-3) (EC 2.3.1.15) (1-acyl-sn-glycerol-3-phosphate O-acyltransferase 10) (AGPAT 10) (1-acyl-sn-glycerol-3-phosphate O-acyltransferase 9) (1-AGP acyltransferase 9) (1-AGPAT 9) (EC 2.3.1.51) (Acyl-CoA:glycerol-3-phosphate acyltransferase 3) (hGPAT3) (Lung cancer metastasis-associated protein 1) (Lysophosphatidic acid acyltransferase theta) (LPAAT-theta) (MAG-1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; glycerol-3-phosphate O-acyltransferase activity [GO:0004366]; sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity [GO:0102420]; CDP-diacylglycerol biosynthetic process [GO:0016024]; phosphatidic acid biosynthetic process [GO:0006654]; regulation of TOR signaling [GO:0032006]; triglyceride biosynthetic process [GO:0019432]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:17002884, ECO:0000269|PubMed:19318427}; Multi-pass membrane protein {ECO:0000269|PubMed:17002884, ECO:0000269|PubMed:19318427}.


uniprotID: Q86UL3
geneSymbol: GPAT4
reactome: R-HSA-1483166;
length: 456
go: ENSG00000158669;
name:
Glycerol-3-phosphate acyltransferase 4 (EC 2.3.1.15) (1-acylglycerol-3-phosphate O-acyltransferase 6) (1-AGP acyltransferase 6) (1-AGPAT 6) (Acyl-CoA:glycerol-3-phosphate acyltransferase 4) (Lysophosphatidic acid acyltransferase zeta) (LPAAT-zeta) (Testis spermatogenesis apoptosis-related protein 7) (TSARG7)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; glycerol-3-phosphate O-acyltransferase activity [GO:0004366]; sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity [GO:0102420]; acyl-CoA metabolic process [GO:0006637]; CDP-diacylglycerol biosynthetic process [GO:0016024]; diacylglycerol metabolic process [GO:0046339]; fatty acid metabolic process [GO:0006631]; glandular epithelial cell maturation [GO:0002071]; lactation [GO:0007595]; lipid biosynthetic process [GO:0008610]; phosphatidic acid biosynthetic process [GO:0006654]; phosphatidylcholine biosynthetic process [GO:0006656]; regulation of multicellular organism growth [GO:0040014]; triglyceride biosynthetic process [GO:0019432]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18238778}; Multi-pass membrane protein {ECO:0000269|PubMed:18238778}.


uniprotID: Q86WP2
geneSymbol: GPBP1
name: Vasculin (GC-rich promoter-binding protein 1) (Vascular wall-linked protein)
length: 473
go: ENSG00000062194;
snps: rs1862171
sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86WP2-1; Sequence=Displayed; Name=2; IsoId=Q86WP2-2; Sequence=VSP_032136; Name=3; IsoId=Q86WP2-3; Sequence=VSP_032136, VSP_032137; Note=No experimental confirmation available.; Name=4; IsoId=Q86WP2-4; Sequence=VSP_032135; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14612417}. Cytoplasm {ECO:0000269|PubMed:12842993}. Note=According to PubMed:12842993, it localizes to the cytoplasm. {ECO:0000269|PubMed:12842993}.


uniprotID: Q8N158
geneSymbol: GPC2
name: Glypican-2 [Cleaved into: Secreted glypican-2]
length: 579
go: ENSG00000213420;
snps: rs1333017606
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]; endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; plasma membrane [GO:0005886]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan catabolic process [GO:0006027]; neuron differentiation [GO:0030182]; regulation of signal transduction [GO:0009966]; retinoid metabolic process [GO:0001523]; smoothened signaling pathway [GO:0007224]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}; Extracellular side {ECO:0000250}.; SUBCELLULAR LOCATION: Secreted glypican-2: Secreted, extracellular space {ECO:0000250}.


uniprotID: P51654
geneSymbol: GPC3
length: 580
go: ENSG00000147257;
snps: rs104894854 rs11539789
reactome:
R-HSA-1971475;R-HSA-2022928;R-HSA-2024096;R-HSA-3560783;R-HSA-3560801;R-HSA-3656237;R-HSA-3656253;R-HSA-381426;R-HSA-4420332;R-HSA-8957275;R-HSA-975634;

name:
Glypican-3 (GTR2-2) (Intestinal protein OCI-5) (MXR7) [Cleaved into: Glypican-3 alpha subunit; Glypican-3 beta subunit]

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; Golgi lumen [GO:0005796]; intrinsic component of plasma membrane [GO:0031226]; lysosomal lumen [GO:0043202]; plasma membrane [GO:0005886]; peptidyl-dipeptidase inhibitor activity [GO:0060422]; anatomical structure morphogenesis [GO:0009653]; anterior/posterior axis specification [GO:0009948]; body morphogenesis [GO:0010171]; bone mineralization [GO:0030282]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell migration involved in gastrulation [GO:0042074]; cell proliferation involved in kidney development [GO:0072111]; cell proliferation involved in metanephros development [GO:0072203]; cellular protein metabolic process [GO:0044267]; coronary vasculature development [GO:0060976]; embryonic hindlimb morphogenesis [GO:0035116]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan catabolic process [GO:0006027]; lung development [GO:0030324]; mesenchymal cell proliferation involved in ureteric bud development [GO:0072138]; mesonephric duct morphogenesis [GO:0072180]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of growth [GO:0045926]; negative regulation of smoothened signaling pathway [GO:0045879]; osteoclast differentiation [GO:0030316]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of endocytosis [GO:0045807]; positive regulation of glucose import [GO:0046326]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of smoothened signaling pathway [GO:0045880]; positive regulation of Wnt signaling pathway, planar cell polarity pathway [GO:2000096]; post-translational protein modification [GO:0043687]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of non-canonical Wnt signaling pathway [GO:2000050]; response to bacterium [GO:0009617]; retinoid metabolic process [GO:0001523]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P51654-1; Sequence=Displayed; Name=2; Synonyms=Variant B; IsoId=P51654-2; Sequence=VSP_046117; Name=3; Synonyms=Variant C; IsoId=P51654-3; Sequence=VSP_046703; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14610063}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:P13265}; Extracellular side {ECO:0000250|UniProtKB:P13265}.


uniprotID: P21695
geneSymbol: GPD1
reactome: R-HSA-1483166;
pdb: 1WPQ;1X0V;1X0X;
name: Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic (GPD-C) (GPDH-C) (EC 1.1.1.8)
length: 349
go: ENSG00000167588;
drug: DB00157;
snps: rs2232202 rs1128867 rs34783513 rs2232207 rs200251017 rs199673455
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glycerol-3-phosphate dehydrogenase complex [GO:0009331]; glycerol-3-phosphate dehydrogenase (quinone) activity [GO:0004368]; glycerol-3-phosphate dehydrogenase [NAD(P)+] activity [GO:0047952]; glycerol-3-phosphate dehydrogenase [NAD+] activity [GO:0004367]; NAD binding [GO:0051287]; protein homodimerization activity [GO:0042803]; cellular response to cAMP [GO:0071320]; cellular response to tumor necrosis factor [GO:0071356]; gluconeogenesis [GO:0006094]; glycerol-3-phosphate catabolic process [GO:0046168]; glycerol-3-phosphate metabolic process [GO:0006072]; glycerophosphate shuttle [GO:0006127]; NADH oxidation [GO:0006116]; phosphatidic acid biosynthetic process [GO:0006654]; positive regulation of glycolytic process [GO:0045821]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P21695-1; Sequence=Displayed; Name=2; IsoId=P21695-2; Sequence=VSP_045999; Note=No experimental confirmation available.; 


uniprotID: Q9H2K0
geneSymbol: MTIF3
reactome: R-HSA-5368286;
name: Translation initiation factor IF-3, mitochondrial (IF-3(Mt)) (IF-3Mt) (IF3(mt)) (IF3mt)
length: 278
go: ENSG00000122033;
snps: rs17857314 rs1218825
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:

opentargets:
mitochondrion [GO:0005739]; ribosomal small subunit binding [GO:0043024]; ribosome binding [GO:0043022]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; mitochondrial translational initiation [GO:0070124]; ribosome disassembly [GO:0032790]


uniprotID: P60842
geneSymbol: EIF4A1
reactome: R-HSA-1169408;R-HSA-156827;R-HSA-429947;R-HSA-72649;R-HSA-72662;R-HSA-72702;R-HSA-72706;
pdb: 2G9N;2ZU6;3EIQ;
length: 406
go: ENSG00000161960;
name:
Eukaryotic initiation factor 4A-I (eIF-4A-I) (eIF4A-I) (EC 3.6.4.13) (ATP-dependent RNA helicase eIF4A-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation initiation factor 4F complex [GO:0016281]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; double-stranded RNA binding [GO:0003725]; helicase activity [GO:0004386]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; RNA cap binding [GO:0000339]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; translational initiation [GO:0006413]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P60842-1; Sequence=Displayed; Name=2; IsoId=P60842-2; Sequence=VSP_046032; Note=No experimental confirmation available.; 


uniprotID: P43304
geneSymbol: GPD2
reactome: R-HSA-1483166;R-HSA-163560;
name: Glycerol-3-phosphate dehydrogenase, mitochondrial (GPD-M) (GPDH-M) (EC 1.1.5.3) (mtGPD)
length: 727
go: ENSG00000115159;
snps: rs2116665 rs35096779 rs1051916
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:

opentargets:
glycerol-3-phosphate dehydrogenase complex [GO:0009331]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; calcium ion binding [GO:0005509]; glycerol-3-phosphate dehydrogenase (quinone) activity [GO:0004368]; glycerol-3-phosphate dehydrogenase [NAD+] activity [GO:0004367]; sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity [GO:0052591]; camera-type eye development [GO:0043010]; gluconeogenesis [GO:0006094]; glycerol catabolic process [GO:0019563]; glycerol-3-phosphate catabolic process [GO:0046168]; glycerophosphate shuttle [GO:0006127]; multicellular organism growth [GO:0035264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43304-1; Sequence=Displayed; Name=2; IsoId=P43304-2; Sequence=VSP_017134; 


uniprotID: O75343
geneSymbol: GUCY1B2
reactome: R-HSA-392154;
name: Guanylate cyclase soluble subunit beta-2 (GCS-beta-2) (EC 4.6.1.2)
length: 617
snps: rs9568497 rs11841997 rs1328361
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; GTP binding [GO:0005525]; guanylate cyclase activity [GO:0004383]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; cGMP-mediated signaling [GO:0019934]


uniprotID: P35573
geneSymbol: AGL
reactome: R-HSA-6798695;R-HSA-70221;
length: 1532
go: ENSG00000162688;
name:
Glycogen debranching enzyme (Glycogen debrancher) [Includes: 4-alpha-glucanotransferase (EC 2.4.1.25) (Oligo-1,4-1,4-glucantransferase); Amylo-alpha-1,6-glucosidase (Amylo-1,6-glucosidase) (EC 3.2.1.33) (Dextrin 6-alpha-D-glucosidase)]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; inclusion body [GO:0016234]; isoamylase complex [GO:0043033]; nucleus [GO:0005634]; sarcoplasmic reticulum [GO:0016529]; secretory granule lumen [GO:0034774]; 4-alpha-glucanotransferase activity [GO:0004134]; amylo-alpha-1,6-glucosidase activity [GO:0004135]; beta-maltose 4-alpha-glucanotransferase activity [GO:0102500]; glycogen debranching enzyme activity [GO:0004133]; polysaccharide binding [GO:0030247]; polyubiquitin modification-dependent protein binding [GO:0031593]; glycogen biosynthetic process [GO:0005978]; glycogen catabolic process [GO:0005980]; neutrophil degranulation [GO:0043312]; response to glucocorticoid [GO:0051384]; response to nutrient [GO:0007584]

snps:
rs35278779 rs17121403 rs17121464 rs3736297 rs34714252 rs3753494 rs2230307 rs2230308 rs11807956 rs12043139 rs112795811 rs118203964 rs12118058 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=2, 3, 4; IsoId=P35573-1; Sequence=Displayed; Note=The products of the mRNAs termed isoforms 1 to 4 are identical.; Name=5; IsoId=P35573-2; Sequence=VSP_004270; Name=6; IsoId=P35573-3; Sequence=VSP_004271; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17908927}. Note=Under glycogenolytic conditions localizes to the nucleus.


uniprotID: Q17RS7
geneSymbol: GEN1
reactome: R-HSA-5693568;
pdb: 5T9J;
name: Flap endonuclease GEN homolog 1 (EC 3.1.-.-)
length: 908
go: ENSG00000178295;
snps: rs1812152 rs16981869 rs10177628 rs300175 rs300169 rs17315702
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:26578604, ECO:0000305|PubMed:28049850}.
sequence:

opentargets:
centrosome [GO:0005813]; nucleoplasm [GO:0005654]; 5'-flap endonuclease activity [GO:0017108]; crossover junction endodeoxyribonuclease activity [GO:0008821]; DNA binding [GO:0003677]; double-stranded DNA 3'-5' exodeoxyribonuclease activity [GO:0008311]; double-stranded DNA 5'-3' exodeoxyribonuclease activity [GO:0051908]; double-stranded DNA binding [GO:0003690]; endodeoxyribonuclease activity [GO:0004520]; flap endonuclease activity [GO:0048256]; four-way junction DNA binding [GO:0000400]; magnesium ion binding [GO:0000287]; protein homodimerization activity [GO:0042803]; single-stranded DNA 3'-5' exodeoxyribonuclease activity [GO:0008310]; single-stranded DNA 5'-3' exodeoxyribonuclease activity [GO:0045145]; single-stranded DNA binding [GO:0003697]; DNA catabolic process, endonucleolytic [GO:0000737]; DNA catabolic process, exonucleolytic [GO:0000738]; double-strand break repair via homologous recombination [GO:0000724]; positive regulation of mitotic cell cycle spindle assembly checkpoint [GO:0090267]; regulation of centrosome duplication [GO:0010824]; replication fork processing [GO:0031297]; resolution of mitotic recombination intermediates [GO:0071140]; resolution of recombination intermediates [GO:0071139]; signal transduction involved in DNA damage checkpoint [GO:0072422]; UV-damage excision repair [GO:0070914]


uniprotID: O94808
geneSymbol: GFPT2
reactome: R-HSA-446210;
length: 682
go: ENSG00000131459;
drug: DB00130;
snps: rs2303007
name:
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 (EC 2.6.1.16) (D-fructose-6-phosphate amidotransferase 2) (Glutamine:fructose-6-phosphate amidotransferase 2) (GFAT 2) (GFAT2) (Hexosephosphate aminotransferase 2)

sequence:

opentargets:
cytosol [GO:0005829]; carbohydrate derivative binding [GO:0097367]; glutamine-fructose-6-phosphate transaminase (isomerizing) activity [GO:0004360]; cellular response to leukemia inhibitory factor [GO:1990830]; energy reserve metabolic process [GO:0006112]; fructose 6-phosphate metabolic process [GO:0006002]; glutamine metabolic process [GO:0006541]; protein N-linked glycosylation [GO:0006487]; UDP-N-acetylglucosamine biosynthetic process [GO:0006048]; UDP-N-acetylglucosamine metabolic process [GO:0006047]


uniprotID: P01742
geneSymbol: IGHV1-69
length: 117
go: ENSG00000211973;
name:
Immunoglobulin heavy variable 1-69 (Ig heavy chain V-I region EU) (Ig heavy chain V-I region SIE) (Ig heavy chain V-I region WOL)

sequence:
MDWTWRFLFVVAAATGVQSQVQLVQSGAEVKKPGSSVKVSCKASGGTFSSYAISWVRQAPGQGLEWMGGIIPIFGTANYAQKFQGRVTITADKSTSTAYMELSSLRSEDTAVYYCAR

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: B5MD39
geneSymbol: GGTLC3
name: Putative glutathione hydrolase light chain 3 (Putative gamma-glutamyltransferase light chain 3)
length: 225
sequence:

opentargets:
extracellular exosome [GO:0070062]; glutathione hydrolase activity [GO:0036374]; glutathione catabolic process [GO:0006751]; leukotriene D4 biosynthetic process [GO:1901750]


uniprotID: Q68CQ7
geneSymbol: GLT8D1
name: Glycosyltransferase 8 domain-containing protein 1 (EC 2.4.1.-)
length: 371
go: ENSG00000016864;
snps: rs2276812
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; transferase activity, transferring glycosyl groups [GO:0016757]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q68CQ7-1; Sequence=Displayed; Name=2; IsoId=Q68CQ7-2; Sequence=VSP_025705, VSP_025706; Note=No experimental confirmation available.; 


uniprotID: Q8NHV1
geneSymbol: GIMAP7
pdb: 3ZJC;
name: GTPase IMAP family member 7 (Immunity-associated nucleotide 7 protein) (IAN-7)
length: 300
go: ENSG00000179144;
snps: rs3735080
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; lipid droplet [GO:0005811]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; GTP metabolic process [GO:0046039]

location:
SUBCELLULAR LOCATION: Lipid droplet {ECO:0000269|PubMed:23454188}. Cytoplasm {ECO:0000269|PubMed:23454188}. Endoplasmic reticulum {ECO:0000269|PubMed:15474311}. Golgi apparatus {ECO:0000269|PubMed:15474311}. Note=Colocalizes with GIMAP2 on the surface of cytoplasmic lipid droplets.


uniprotID: P01764
geneSymbol: IGHV3-23
pdb: 1HOU;1OHQ;3BN9;3UPC;3ZHD;3ZHK;3ZHL;4KFZ;
length: 117
go: ENSG00000211949;
drug: DB04147;
name:
Immunoglobulin heavy variable 3-23 (Ig heavy chain V-III region LAY) (Ig heavy chain V-III region POM) (Ig heavy chain V-III region TEI) (Ig heavy chain V-III region TIL) (Ig heavy chain V-III region TUR) (Ig heavy chain V-III region VH26) (Ig heavy chain V-III region WAS) (Ig heavy chain V-III region ZAP)

sequence:
MEFGLSWLFLVAILKGVQCEVQLVESGGGLVQPGGSLRLSCAASGFTFSSYAMSWVRQAPGKGLEWVSAISGSGGSTYYADSVKGRFTISRDNSKNTLYLQMNSLRAEDTAVYYCAK

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; immunoglobulin complex, circulating [GO:0042571]; 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: P0DP03
geneSymbol: IGHV3-30-5
name: Immunoglobulin heavy variable 3-30-5
length: 117
go: ENSG00000270550;
sequence:
MEFGLSWVFLVALLRGVQCQVQLVESGGGVVQPGRSLRLSCAASGFTFSSYGMHWVRQAPGKGLEWVAVISYDGSNKYYADSVKGRFTISRDNSKNTLYLQMNSLRAEDTAVYYCAK


uniprotID: P50213
geneSymbol: IDH3A
reactome: R-HSA-71403;
pdb: 5GRE;5GRF;5GRH;5GRI;5GRL;5YVT;
length: 366
go: ENSG00000166411;
drug: DB00157;
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial (EC 1.1.1.41) (Isocitric dehydrogenase subunit alpha) (NAD(+)-specific ICDH subunit alpha)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; isocitrate dehydrogenase (NAD+) activity [GO:0004449]; magnesium ion binding [GO:0000287]; NAD binding [GO:0051287]; carbohydrate metabolic process [GO:0005975]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50213-1; Sequence=Displayed; Name=2; IsoId=P50213-2; Sequence=VSP_014516; Note=No experimental confirmation available.; 


uniprotID: Q9NS18
geneSymbol: GLRX2
pdb: 2CQ9;2FLS;2HT9;
name: Glutaredoxin-2, mitochondrial
length: 164
go: ENSG00000023572;
drug: DB00143;
snps: rs34237236
location: SUBCELLULAR LOCATION: Isoform 1: Mitochondrion.; SUBCELLULAR LOCATION: Isoform 2: Nucleus.
sequence:
MIWRRAALAGTRLVWSRSGSAGWLDRAAGAAGAAAAAASGMESNTSSSLENLATAPVNQIQETISDNCVVIFSKTSCSYCTMAKKLFHDMNVNYKVVELDLLEYGNQFQDALYKMTGERTVPRIFVNGTFIGGATDTHRLHKEGKLLPLVHQCYLKKSKRKEFQ

opentargets:
dendrite [GO:0030425]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 2 iron, 2 sulfur cluster binding [GO:0051537]; arsenate reductase (glutaredoxin) activity [GO:0008794]; electron transfer activity [GO:0009055]; glutathione disulfide oxidoreductase activity [GO:0015038]; metal ion binding [GO:0046872]; protein disulfide isomerase activity [GO:0003756]; protein disulfide oxidoreductase activity [GO:0015035]; aging [GO:0007568]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; cell redox homeostasis [GO:0045454]; cellular response to superoxide [GO:0071451]; DNA protection [GO:0042262]; glutathione metabolic process [GO:0006749]; regulation of signal transduction [GO:0009966]; regulation of transcription, DNA-templated [GO:0006355]; response to hydrogen peroxide [GO:0042542]; response to organic substance [GO:0010033]; response to redox state [GO:0051775]; response to temperature stimulus [GO:0009266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Grx2a; IsoId=Q9NS18-1; Sequence=Displayed; Name=2; Synonyms=Grx2b; IsoId=Q9NS18-2; Sequence=VSP_015221; 


uniprotID: P47871
geneSymbol: GCGR
reactome: R-HSA-163359;R-HSA-416476;R-HSA-418555;R-HSA-420092;
pdb: 2A83;3CZF;4ERS;4L6R;4LF3;5EE7;5XEZ;
name: Glucagon receptor (GL-R)
length: 477
go: ENSG00000215644;
drug: DB00040;
snps: rs1801483 rs5385 rs5387
sequence:

opentargets:
endosome [GO:0005768]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; glucagon receptor activity [GO:0004967]; guanyl-nucleotide exchange factor activity [GO:0005085]; peptide hormone binding [GO:0017046]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cell surface receptor signaling pathway [GO:0007166]; cellular response to glucagon stimulus [GO:0071377]; exocytosis [GO:0006887]; G protein-coupled receptor signaling pathway [GO:0007186]; generation of precursor metabolites and energy [GO:0006091]; glucose homeostasis [GO:0042593]; hormone-mediated signaling pathway [GO:0009755]; regulation of blood pressure [GO:0008217]; regulation of glycogen metabolic process [GO:0070873]; response to nutrient [GO:0007584]; response to starvation [GO:0042594]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19657311, ECO:0000269|PubMed:23863937, ECO:0000269|PubMed:27111510, ECO:0000269|PubMed:28514451, ECO:0000269|PubMed:7507321, ECO:0000269|PubMed:9287038}; Multi-pass membrane protein {ECO:0000269|PubMed:19657311, ECO:0000269|PubMed:23863937, ECO:0000269|PubMed:27111510, ECO:0000269|PubMed:28514451, ECO:0000269|PubMed:7507321, ECO:0000269|PubMed:9287038}. Note=Is rapidly internalized after ligand-binding. {ECO:0000269|PubMed:9287038}.


uniprotID: A6NH11
geneSymbol: GLTPD2
name: Glycolipid transfer protein domain-containing protein 2
length: 291
go: ENSG00000182327;
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; ceramide 1-phosphate binding [GO:1902387]; ceramide 1-phosphate transporter activity [GO:1902388]; intermembrane lipid transfer activity [GO:0120013]; lipid binding [GO:0008289]; ceramide transport [GO:0035627]; intermembrane lipid transfer [GO:0120009]


uniprotID: P14672
geneSymbol: SLC2A4
reactome: R-HSA-1445148;R-HSA-189200;R-HSA-381340;
length: 509
go: ENSG00000181856;
drug: DB09502;
snps: rs35198331 rs5434 rs8192702 rs121434581 rs775242206
name:
Solute carrier family 2, facilitated glucose transporter member 4 (Glucose transporter type 4, insulin-responsive) (GLUT-4)

sequence:

opentargets:
clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; insulin-responsive compartment [GO:0032593]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; membrane raft [GO:0045121]; multivesicular body [GO:0005771]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; sarcoplasmic reticulum [GO:0016529]; T-tubule [GO:0030315]; trans-Golgi network transport vesicle [GO:0030140]; vesicle membrane [GO:0012506]; D-glucose transmembrane transporter activity [GO:0055056]; glucose transmembrane transporter activity [GO:0005355]; amylopectin biosynthetic process [GO:0010021]; brown fat cell differentiation [GO:0050873]; carbohydrate metabolic process [GO:0005975]; cellular response to hypoxia [GO:0071456]; cellular response to insulin stimulus [GO:0032869]; cellular response to osmotic stress [GO:0071470]; cellular response to tumor necrosis factor [GO:0071356]; glucose homeostasis [GO:0042593]; glucose import [GO:0046323]; glucose import in response to insulin stimulus [GO:0044381]; glucose transmembrane transport [GO:1904659]; regulation of synaptic vesicle budding from presynaptic endocytic zone membrane [GO:0098694]; response to ethanol [GO:0045471]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14672-1; Sequence=Displayed; Name=2; IsoId=P14672-2; Sequence=VSP_056331, VSP_056332; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P14142}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P14142}. Endomembrane system {ECO:0000269|PubMed:8300557}; Multi-pass membrane protein {ECO:0000269|PubMed:8300557}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:P14142}. Note=Localizes primarily to the perinuclear region, undergoing continued recycling to the plasma membrane where it is rapidly reinternalized (PubMed:8300557). The dileucine internalization motif is critical for intracellular sequestration (PubMed:8300557). Insulin stimulation induces translocation to the cell membrane (By similarity). {ECO:0000250|UniProtKB:P14142, ECO:0000269|PubMed:8300557}.


uniprotID: O14645
geneSymbol: DNALI1
name: Axonemal dynein light intermediate polypeptide 1 (Inner dynein arm light chain, axonemal) (hp28)
length: 258
snps: rs11749
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:27120127}.
sequence:

opentargets:
9+2 motile cilium [GO:0097729]; axoneme [GO:0005930]; cilium [GO:0005929]; cytoplasm [GO:0005737]; dynein complex [GO:0030286]; filopodium [GO:0030175]; dynein heavy chain binding [GO:0045504]; motor activity [GO:0003774]; inner dynein arm assembly [GO:0036159]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14645-1; Sequence=Displayed; Name=2; IsoId=O14645-2; Sequence=VSP_056965, VSP_056966; Note=No experimental confirmation available.; 


uniprotID: Q9BTL4
geneSymbol: IER2
name: Immediate early response gene 2 protein (Protein ETR101)
length: 223
go: ENSG00000160888;
snps: rs1042164
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell motility [GO:0048870]; neuron differentiation [GO:0030182]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to fibroblast growth factor [GO:0071774]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22120713}. Nucleus {ECO:0000269|PubMed:22120713}. Note=Cytoplasmic during quiescence, translocates to the nucleus upon stimulation. {ECO:0000269|PubMed:22120713}.


uniprotID: Q9HBG6
geneSymbol: IFT122
reactome: R-HSA-5610787;R-HSA-5620924;
length: 1241
go: ENSG00000163913;
snps: rs267607193 rs267607192 rs267607191
name:
Intraflagellar transport protein 122 homolog (WD repeat-containing protein 10) (WD repeat-containing protein 140)

sequence:

opentargets:
ciliary basal body [GO:0036064]; ciliary base [GO:0097546]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytosol [GO:0005829]; intraciliary transport particle A [GO:0030991]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; photoreceptor connecting cilium [GO:0032391]; camera-type eye morphogenesis [GO:0048593]; ciliary receptor clustering involved in smoothened signaling pathway [GO:0060830]; cilium assembly [GO:0060271]; embryonic body morphogenesis [GO:0010172]; embryonic digit morphogenesis [GO:0042733]; embryonic forelimb morphogenesis [GO:0035115]; embryonic heart tube development [GO:0035050]; embryonic heart tube left/right pattern formation [GO:0060971]; establishment of protein localization to organelle [GO:0072594]; intraciliary anterograde transport [GO:0035720]; intraciliary retrograde transport [GO:0035721]; intraciliary transport involved in cilium assembly [GO:0035735]; limb development [GO:0060173]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of smoothened signaling pathway [GO:0045879]; negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning [GO:0021914]; neural tube closure [GO:0001843]; non-motile cilium assembly [GO:1905515]; protein localization to cilium [GO:0061512]; signal transduction downstream of smoothened [GO:0007227]; smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:0060831]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; IsoId=Q9HBG6-1; Sequence=Displayed; Name=3; IsoId=Q9HBG6-3; Sequence=VSP_041161; Name=4; IsoId=Q9HBG6-4; Sequence=VSP_043310, VSP_041161, VSP_043311; Note=No experimental confirmation available.; Name=5; IsoId=Q9HBG6-5; Sequence=VSP_045224; Name=6; IsoId=Q9HBG6-6; Sequence=VSP_045224, VSP_041161, VSP_043311; Name=7; IsoId=Q9HBG6-7; Sequence=VSP_056773, VSP_041161; Name=8; IsoId=Q9HBG6-8; Sequence=VSP_056773; Name=9; IsoId=Q9HBG6-9; Sequence=VSP_056774, VSP_041161, VSP_056777, VSP_043311; Name=10; IsoId=Q9HBG6-10; Sequence=VSP_056775, VSP_056776, VSP_043311; Name=11; IsoId=Q9HBG6-11; Sequence=VSP_041161, VSP_056778; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell projection, cilium {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Localizes to photoreceptor connecting cilia. {ECO:0000250}.


uniprotID: Q9UG01
geneSymbol: IFT172
reactome: R-HSA-5610787;R-HSA-5620924;
name: Intraflagellar transport protein 172 homolog
length: 1749
go: ENSG00000138002;
sequence:

opentargets:
axoneme [GO:0005930]; ciliary basal body [GO:0036064]; ciliary tip [GO:0097542]; cilium [GO:0005929]; extracellular vesicle [GO:1903561]; intraciliary transport particle B [GO:0030992]; sperm cytoplasmic droplet [GO:0097598]; sperm midpiece [GO:0097225]; sperm principal piece [GO:0097228]; bone development [GO:0060348]; brain development [GO:0007420]; cilium assembly [GO:0060271]; cytoplasmic microtubule organization [GO:0031122]; dorsal/ventral pattern formation [GO:0009953]; epidermis development [GO:0008544]; heart looping [GO:0001947]; hindgut development [GO:0061525]; intraciliary transport involved in cilium assembly [GO:0035735]; left/right axis specification [GO:0070986]; limb development [GO:0060173]; negative regulation of epithelial cell proliferation [GO:0050680]; neural tube closure [GO:0001843]; non-motile cilium assembly [GO:1905515]; Notch signaling pathway [GO:0007219]; positive regulation of smoothened signaling pathway [GO:0045880]; protein processing [GO:0016485]; roof of mouth development [GO:0060021]; smoothened signaling pathway [GO:0007224]; spinal cord motor neuron differentiation [GO:0021522]

snps:
rs786205857 rs145541911 rs587777085 rs704793 rs587777080 rs587777079 rs786205855 rs786205856 rs149614625 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UG01-1; Sequence=Displayed; Name=2; IsoId=Q9UG01-2; Sequence=VSP_032848, VSP_032849; Note=No experimental confirmation available.; Name=3; IsoId=Q9UG01-3; Sequence=VSP_054428, VSP_054429; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:24140113}. Note=Localized to the axoneme and around the base of the cilium.


uniprotID: Q969I3
geneSymbol: GLYATL1
reactome: R-HSA-177128;R-HSA-177135;
length: 302
go: ENSG00000166840;
drug: DB00145;
name:
Glycine N-acyltransferase-like protein 1 (EC 2.3.1.68) (Acyl-CoA:glycine N-acyltransferase-like protein 1) (Glutamine N-acyltransferase)

sequence:

opentargets:
mitochondrion [GO:0005739]; glutamine N-acyltransferase activity [GO:0047946]; glycine N-acyltransferase activity [GO:0047961]; glutamine metabolic process [GO:0006541]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969I3-1; Sequence=Displayed; Name=2; IsoId=Q969I3-2; Sequence=VSP_024076; Note=No experimental confirmation available.; 


uniprotID: A0A0U1RQE8
geneSymbol: GLYATL1B
name: Putative glycine N-acyltransferase-like protein 1B (EC 2.3.1.68)
length: 302
go: ENSG00000255151;
sequence:

opentargets:
mitochondrion [GO:0005739]; glutamine N-acyltransferase activity [GO:0047946]; glycine N-acyltransferase activity [GO:0047961]


uniprotID: P34896
geneSymbol: SHMT1
reactome: R-HSA-196757;R-HSA-71262;
pdb: 1BJ4;
length: 483
go: ENSG00000176974;
drug: DB02800;DB00145;DB01055;DB02824;DB00114;DB00116;DB02067;
snps: rs7215148 rs1979277
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Serine hydroxymethyltransferase, cytosolic (SHMT) (EC 2.1.2.1) (Glycine hydroxymethyltransferase) (Serine methylase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; amino acid binding [GO:0016597]; cobalt ion binding [GO:0050897]; glycine hydroxymethyltransferase activity [GO:0004372]; identical protein binding [GO:0042802]; L-allo-threonine aldolase activity [GO:0008732]; mRNA 5'-UTR binding [GO:0048027]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; serine binding [GO:0070905]; translation repressor activity, mRNA regulatory element binding [GO:0000900]; zinc ion binding [GO:0008270]; carnitine biosynthetic process [GO:0045329]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular response to tetrahydrofolate [GO:1904482]; dTMP biosynthetic process [GO:0006231]; folic acid metabolic process [GO:0046655]; glycine biosynthetic process from serine [GO:0019264]; glycine metabolic process [GO:0006544]; L-serine catabolic process [GO:0006565]; L-serine metabolic process [GO:0006563]; negative regulation of translation [GO:0017148]; one-carbon metabolic process [GO:0006730]; protein homotetramerization [GO:0051289]; protein tetramerization [GO:0051262]; purine nucleobase biosynthetic process [GO:0009113]; tetrahydrofolate interconversion [GO:0035999]; tetrahydrofolate metabolic process [GO:0046653]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P34896-1; Sequence=Displayed; Name=2; IsoId=P34896-2; Sequence=VSP_006095; Name=3; IsoId=P34896-3; Sequence=VSP_006096; Name=4; IsoId=P34896-4; Sequence=VSP_054610; Note=No experimental confirmation available.; 


uniprotID: Q8NEA9
geneSymbol: GMCL2
name: Germ cell-less protein-like 2 (Germ cell-less protein-like 1-like)
length: 526
location: SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000250|UniProtKB:Q920G9}.
sequence:

opentargets:
nuclear matrix [GO:0016363]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; protein ubiquitination [GO:0016567]; spermatogenesis [GO:0007283]


uniprotID: O60547
geneSymbol: GMDS
reactome: R-HSA-6787639;
pdb: 1T2A;5IN4;5IN5;6GPJ;6GPK;6GPL;
name: GDP-mannose 4,6 dehydratase (EC 4.2.1.47) (GDP-D-mannose dehydratase) (GMD)
length: 372
go: ENSG00000112699;
drug: DB04315;DB02547;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; GDP-mannose 4,6-dehydratase activity [GO:0008446]; identical protein binding [GO:0042802]; NADP+ binding [GO:0070401]; 'de novo' GDP-L-fucose biosynthetic process [GO:0042351]; GDP-mannose metabolic process [GO:0019673]; Notch signaling pathway [GO:0007219]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60547-1; Sequence=Displayed; Name=2; IsoId=O60547-2; Sequence=VSP_047324; Note=No experimental confirmation available.; 


uniprotID: O60234
geneSymbol: GMFG
reactome: R-HSA-6798695;
pdb: 3L50;
name: Glia maturation factor gamma (GMF-gamma)
length: 142
go: ENSG00000130755;
snps: rs36110047 rs34035414
sequence:
MSDSLVVCEVDPELTEKLRKFRFRKETDNAAIIMKVDKDRQMVVLEEEFQNISPEELKMELPERQPRFVVYSYKYVHDDGRVSYPLCFIFSSPVGCKPEQQMMYAGSKNRLVQTAELTKVFEIRTTDDLTEAWLQEKLSFFR

opentargets:
extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; secretory granule lumen [GO:0034774]; actin binding [GO:0003779]; Arp2/3 complex binding [GO:0071933]; enzyme activator activity [GO:0008047]; growth factor activity [GO:0008083]; protein kinase inhibitor activity [GO:0004860]; actin filament debranching [GO:0071846]; negative regulation of Arp2/3 complex-mediated actin nucleation [GO:0034316]; neutrophil degranulation [GO:0043312]; protein phosphorylation [GO:0006468]; regulation of actin cytoskeleton reorganization [GO:2000249]


uniprotID: Q9P107
geneSymbol: GMIP
reactome: R-HSA-194840;
pdb: 3QWE;
name: GEM-interacting protein (GMIP)
length: 970
go: ENSG00000089639;
snps: rs12003
sequence:

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; intracellular signal transduction [GO:0035556]; negative regulation of GTPase activity [GO:0034260]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P107-1; Sequence=Displayed; Name=2; IsoId=Q9P107-2; Sequence=VSP_056142; Note=No experimental confirmation available.; 


uniprotID: Q99445
geneSymbol: GML
name: Glycosyl-phosphatidylinositol-anchored molecule-like protein
length: 158
go: ENSG00000104499;
snps: rs3764795
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}.
sequence:
MLLFALLLAMELPLVAASATMRAQWTYSLRCHDCAVINDFNCPNIRVCPYHIRRCMTISIRINSRELLVYKNCTNNCTFVYAAEQPPEAPGKIFKTNSFYWVCCCNSMVCNAGGPTNLERDMLPDEVTEEELPEGTVRLGVSKLLLSFASIIVSNILP

opentargets:
anchored component of membrane [GO:0031225]; extrinsic component of membrane [GO:0019898]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; apoptotic process [GO:0006915]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; negative regulation of cell proliferation [GO:0008285]


uniprotID: Q9Y5P6
geneSymbol: GMPPB
reactome: R-HSA-446205;
length: 360
go: ENSG00000173540;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23768512}.
name:
Mannose-1-phosphate guanyltransferase beta (EC 2.7.7.13) (GDP-mannose pyrophosphorylase B) (GTP-mannose-1-phosphate guanylyltransferase beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; GTP binding [GO:0005525]; mannose-1-phosphate guanylyltransferase activity [GO:0004475]; GDP-mannose biosynthetic process [GO:0009298]

snps:
rs397509424 rs142336618 rs397509426 rs34345884 rs145535498 rs1466685 rs397509425 rs761714818 rs875989850 rs202160208 rs142908436 rs756682220 rs559784211 rs781114909 rs199922550 rs397509422 rs1064796834 rs771861177 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5P6-1; Sequence=Displayed; Name=2; IsoId=Q9Y5P6-2; Sequence=VSP_028619; 


uniprotID: P50148
geneSymbol: GNAQ
reactome: R-HSA-399997;R-HSA-416476;R-HSA-418592;R-HSA-428930;R-HSA-434316;R-HSA-456926;
name: Guanine nucleotide-binding protein G(q) subunit alpha (Guanine nucleotide-binding protein alpha-q)
length: 359
go: ENSG00000156052;
snps: rs397514698 rs121913492 rs1059531
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; heterotrimeric G-protein complex [GO:0005834]; lysosomal membrane [GO:0005765]; nuclear membrane [GO:0031965]; 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 activator activity [GO:0005096]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; type 2A serotonin receptor binding [GO:0031826]; action potential [GO:0001508]; activation of phospholipase C activity [GO:0007202]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; blood coagulation [GO:0007596]; entrainment of circadian clock [GO:0009649]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; G protein-coupled receptor signaling pathway [GO:0007186]; glutamate receptor signaling pathway [GO:0007215]; negative regulation of protein kinase activity [GO:0006469]; phototransduction, visible light [GO:0007603]; platelet activation [GO:0030168]; protein stabilization [GO:0050821]; regulation of canonical Wnt signaling pathway [GO:0060828]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Membrane {ECO:0000250}. Nucleus membrane {ECO:0000250}. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {ECO:0000250}.


uniprotID: Q9BVP2
geneSymbol: GNL3
reactome: R-HSA-6791226;
length: 549
go: ENSG00000163938;
snps: rs11177 rs2289247
name:
Guanine nucleotide-binding protein-like 3 (E2-induced gene 3 protein) (Novel nucleolar protein 47) (NNP47) (Nucleolar GTP-binding protein 3) (Nucleostemin)

sequence:

opentargets:
extracellular space [GO:0005615]; membrane [GO:0016020]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleus [GO:0005634]; GTP binding [GO:0005525]; mRNA 5'-UTR binding [GO:0048027]; RNA binding [GO:0003723]; cell proliferation [GO:0008283]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of protein localization to chromosome, telomeric region [GO:1904816]; positive regulation of protein sumoylation [GO:0033235]; positive regulation of telomere maintenance [GO:0032206]; regulation of cell proliferation [GO:0042127]; stem cell division [GO:0017145]; stem cell population maintenance [GO:0019827]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BVP2-1; Sequence=Displayed; Name=2; IsoId=Q9BVP2-2; Sequence=VSP_013411; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q811S9}. Nucleus, nucleolus {ECO:0000269|PubMed:11790298, ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:12464630}. Note=Shuttles between the nucleus and nucleolus. {ECO:0000250|UniProtKB:Q811S9}.


uniprotID: P22749
geneSymbol: GNLY
reactome: R-HSA-6803157;
pdb: 1L9L;
name: Granulysin (Lymphokine LAG-2) (Protein NKG5) (T-cell activation protein 519)
length: 145
go: ENSG00000115523;
drug: DB03434;
snps: rs11127
sequence:
MATWALLLLAAMLLGNPGLVFSRLSPEYYDLARAHLRDEEKSCPCLAQEGPQGDLLTKTQELGRDYRTCLTIVQKLKKMVDKPTQRSVSNAATRVCRTGRSRWRDVCRNFMRRYQSRVTQGLVAGETAQQICEDLRLCIPSTGPL

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; phagocytic vesicle lumen [GO:0097013]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; defense response to bacterium [GO:0042742]; defense response to fungus [GO:0050832]; intracellular defense response [GO:0002818]; killing of cells of other organism [GO:0031640]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P22749-1; Sequence=Displayed; Name=Short; IsoId=P22749-2; Sequence=VSP_006016; 

location:
SUBCELLULAR LOCATION: Secreted. Note=Located in the cytotoxic granules of T-cells, which are released upon antigen stimulation.


uniprotID: P05198
geneSymbol: EIF2S1
reactome: R-HSA-156827;R-HSA-381042;R-HSA-382556;R-HSA-72649;R-HSA-72695;R-HSA-72702;R-HSA-72706;R-HSA-72731;
pdb: 1KL9;1Q8K;
length: 315
go: ENSG00000134001;
name:
Eukaryotic translation initiation factor 2 subunit 1 (Eukaryotic translation initiation factor 2 subunit alpha) (eIF-2-alpha) (eIF-2A) (eIF-2alpha)

sequence:

opentargets:
cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 2 complex [GO:0005850]; eukaryotic translation initiation factor 2B complex [GO:0005851]; extracellular exosome [GO:0070062]; glial limiting end-foot [GO:0097451]; membrane [GO:0016020]; multi-eIF complex [GO:0043614]; nucleus [GO:0005634]; polysome [GO:0005844]; synapse [GO:0045202]; translation initiation ternary complex [GO:0044207]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; aging [GO:0007568]; cellular response to amino acid starvation [GO:0034198]; cellular response to heat [GO:0034605]; cellular response to oxidative stress [GO:0034599]; cellular response to UV [GO:0034644]; negative regulation of guanyl-nucleotide exchange factor activity [GO:1905098]; negative regulation of translational initiation in response to stress [GO:0032057]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of neuron death [GO:1901216]; positive regulation of type B pancreatic cell apoptotic process [GO:2000676]; protein autophosphorylation [GO:0046777]; response to endoplasmic reticulum stress [GO:0034976]; response to manganese-induced endoplasmic reticulum stress [GO:1990737]; stress granule assembly [GO:0034063]; translational initiation [GO:0006413]; transmembrane transport [GO:0055085]

location:
SUBCELLULAR LOCATION: Cytoplasm, Stress granule {ECO:0000250|UniProtKB:Q6ZWX6}. Note=Colocalizes with NANOS3 in the stress granules. {ECO:0000250|UniProtKB:Q6ZWX6}.


uniprotID: A6NCC3
geneSymbol: GOLGA8O
name: Golgin subfamily A member 8O
length: 632
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NCC3-2; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=A6NCC3-1; Sequence=VSP_044760, VSP_044761, VSP_044762; 


uniprotID: Q92805
geneSymbol: GOLGA1
reactome: R-HSA-6811440;
name: Golgin subfamily A member 1 (Golgin-97)
length: 767
go: ENSG00000136935;
snps: rs35237091 rs583134 rs634710
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; perinuclear region of cytoplasm [GO:0048471]; trans-Golgi network [GO:0005802]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:10209123, ECO:0000269|PubMed:10209125, ECO:0000269|PubMed:9324025}; Peripheral membrane protein {ECO:0000305}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:29084197}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q9CW79}.


uniprotID: A6NDN3
geneSymbol: GOLGA6B
name: Golgin subfamily A member 6B
length: 693
go: ENSG00000215186;
snps: rs2081561
sequence:


uniprotID: P0CG33
geneSymbol: GOLGA6D
name: Golgin subfamily A member 6D
length: 693
sequence:


uniprotID: Q2TAP0
geneSymbol: GOLGA7B
name: Golgin subfamily A member 7B
length: 167
go: ENSG00000155265;
location: SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}.
sequence:
MATEVHNLQELRRSASLATKVFIQRDYSDGTICQFQTKFPPELDSRIERQLFEETVKTLNGFYAEAEKIGGSSYLEGCLACATAYFIFLCMETHYEKVLKKISRYIQEQNEKIFAPRGLLLTDPVERGMRVIEISIYEDRCSSGSSSSGSSSGSGSSSGGGGGAGAR

opentargets:
Golgi membrane [GO:0000139]; palmitoyltransferase complex [GO:0002178]; peptidyl-L-cysteine S-palmitoylation [GO:0018230]; protein targeting to membrane [GO:0006612]


uniprotID: A8MQT2
geneSymbol: GOLGA8B
name: Golgin subfamily A member 8B (Golgin-67)
length: 603
go: ENSG00000215252;
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=A8MQT2-1; Sequence=Displayed; Name=2; IsoId=A8MQT2-2; Sequence=VSP_030496; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:10677249}; Peripheral membrane protein {ECO:0000269|PubMed:10677249}.


uniprotID: A6NN73
geneSymbol: GOLGA8CP
name: Golgin subfamily A member 8C
length: 597
sequence:


uniprotID: P01148
geneSymbol: GNRH1
reactome: R-HSA-375281;R-HSA-416476;
pdb: 4D5M;
sequence: MKPIQKLLAGLILLTWCVEGCSSQHWSYGLRPGGKRDAENLIDSFQEIVKEVGQLAETQRFECTTHQPRSPLRDLKGALESLIEEETGQKKI
length: 92
go: ENSG00000147437;
snps: rs6185
location: SUBCELLULAR LOCATION: Secreted.
name:
Progonadoliberin-1 (Progonadoliberin I) [Cleaved into: Gonadoliberin-1 (Gonadoliberin I) (Gonadorelin) (Gonadotropin-releasing hormone I) (GnRH-I) (Luliberin I) (Luteinizing hormone-releasing hormone I) (LH-RH I); GnRH-associated peptide 1 (GnRH-associated peptide I)]

opentargets:
axon terminus [GO:0043679]; cytoplasmic side of rough endoplasmic reticulum membrane [GO:0098556]; dendrite [GO:0030425]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi-associated vesicle [GO:0005798]; mitochondrion [GO:0005739]; neurosecretory vesicle [GO:1990008]; perikaryon [GO:0043204]; gonadotropin hormone-releasing hormone activity [GO:0005183]; gonadotropin-releasing hormone receptor binding [GO:0031530]; hormone activity [GO:0005179]; aging [GO:0007568]; cell-cell signaling [GO:0007267]; estrous cycle [GO:0044849]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; male sex determination [GO:0030238]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of immature T cell proliferation [GO:0033087]; negative regulation of neuron migration [GO:2001223]; regulation of gene expression [GO:0010468]; regulation of ovarian follicle development [GO:2000354]; reproduction [GO:0000003]; response to corticosteroid [GO:0031960]; response to ethanol [GO:0045471]; response to lipopolysaccharide [GO:0032496]; response to potassium ion [GO:0035864]; response to prolactin [GO:1990637]; response to prostaglandin E [GO:0034695]; response to testosterone [GO:0033574]; signal transduction [GO:0007165]


uniprotID: O00425
geneSymbol: IGF2BP3
reactome: R-HSA-428359;
pdb: 2E44;6FQ1;6FQR;6GX6;
length: 579
go: ENSG00000136231;
name:
Insulin-like growth factor 2 mRNA-binding protein 3 (IGF2 mRNA-binding protein 3) (IMP-3) (IGF-II mRNA-binding protein 3) (KH domain-containing protein overexpressed in cancer) (hKOC) (VICKZ family member 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; 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]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00425-1; Sequence=Displayed; Name=2; IsoId=O00425-2; Sequence=VSP_024172; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Found in lamellipodia of the leading edge, in the perinuclear region, and beneath the plasma membrane. The subcytoplasmic localization is cell specific and regulated by cell contact and growth. Localized at the connecting piece and the tail of the spermatozoa. Colocalized with CD44 mRNA in RNP granules. In response to cellular stress, such as oxidative stress, recruited to stress granules.


uniprotID: Q9HCQ5
geneSymbol: GALNT9
reactome: R-HSA-913709;
length: 603
go: ENSG00000182870;
name:
Polypeptide N-acetylgalactosaminyltransferase 9 (EC 2.4.1.41) (Polypeptide GalNAc transferase 9) (GalNAc-T9) (pp-GaNTase 9) (Protein-UDP acetylgalactosaminyltransferase 9) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 9)

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]; O-glycan processing [GO:0016266]; protein O-linked glycosylation [GO:0006493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCQ5-1; Sequence=Displayed; Name=2; IsoId=Q9HCQ5-2; Sequence=VSP_011206; 


uniprotID: P52951
geneSymbol: GBX2
name: Homeobox protein GBX-2 (Gastrulation and brain-specific homeobox protein 2)
length: 348
go: ENSG00000168505;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; 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]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; autonomic nervous system development [GO:0048483]; axon guidance [GO:0007411]; branching involved in blood vessel morphogenesis [GO:0001569]; cerebellar granule cell precursor proliferation [GO:0021930]; cerebellum development [GO:0021549]; forebrain neuron development [GO:0021884]; inner ear morphogenesis [GO:0042472]; midbrain-hindbrain boundary morphogenesis [GO:0021555]; nervous system development [GO:0007399]; neural crest cell migration [GO:0001755]; rhombomere 2 development [GO:0021568]; thalamus development [GO:0021794]


uniprotID: Q7Z6Z7
geneSymbol: HUWE1
reactome: R-HSA-6798695;R-HSA-983168;
pdb: 2EKK;2MUL;3G1N;3H1D;5C6H;5LP8;6FYH;
length: 4374
go: ENSG00000086758;
snps: rs41307640 rs121918526 rs121918525 rs121918527
name:
E3 ubiquitin-protein ligase HUWE1 (EC 2.3.2.26) (ARF-binding protein 1) (ARF-BP1) (HECT, UBA and WWE domain-containing protein 1) (HECT-type E3 ubiquitin transferase HUWE1) (Homologous to E6AP carboxyl terminus homologous protein 9) (HectH9) (Large structure of UREB1) (LASU1) (Mcl-1 ubiquitin ligase E3) (Mule) (Upstream regulatory element-binding protein 1) (URE-B1) (URE-binding protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; base-excision repair [GO:0006284]; cell differentiation [GO:0030154]; histone ubiquitination [GO:0016574]; neutrophil degranulation [GO:0043312]; positive regulation of protein targeting to mitochondrion [GO:1903955]; protein monoubiquitination [GO:0006513]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=LASU1, Large structure of UREB1; IsoId=Q7Z6Z7-1; Sequence=Displayed; Name=2; IsoId=Q7Z6Z7-2; Sequence=VSP_011146; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z6Z7-3; Sequence=VSP_015272; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19713937}. Nucleus {ECO:0000269|PubMed:19713937}. Note=Mainly expressed in the cytoplasm of most tissues, except in the nucleus of spermatogonia, primary spermatocytes and neuronal cells (By similarity). Predominantly cytosolic or perinuclear in some colorectal carcinoma cells. {ECO:0000250|UniProtKB:Q7TMY8}.


uniprotID: O75409
geneSymbol: HYPM
name: Huntingtin-interacting protein M (Huntingtin yeast partner M)
length: 117
go: ENSG00000187516;
snps: rs6651635
sequence:
MSEKKNCKNSSTNNNQTQDPSRNELQVPRSFVDRVVQDERDVQSQSSSTINTLLTLLDCLADYIMERVGLEASNNGSMRNTSQDREREVDNNREPHSAESDVTRFLFDEMPKSRKND

opentargets:
nuclear chromatin [GO:0000790]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]


uniprotID: Q08334
geneSymbol: IL10RB
reactome: R-HSA-449836;R-HSA-6783783;R-HSA-8854691;
pdb: 3LQM;5T5W;
length: 325
go: ENSG00000243646;
snps: rs2834167
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-10 receptor subunit beta (IL-10 receptor subunit beta) (IL-10R subunit beta) (IL-10RB) (Cytokine receptor class-II member 4) (Cytokine receptor family 2 member 4) (CRF2-4) (Interleukin-10 receptor subunit 2) (IL-10R subunit 2) (IL-10R2) (CD antigen CDw210b)

sequence:

opentargets:
integral component of membrane [GO:0016021]; interleukin-28 receptor complex [GO:0032002]; plasma membrane [GO:0005886]; interleukin-10 receptor activity [GO:0004920]; signaling receptor activity [GO:0038023]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; immune response [GO:0006955]; inflammatory response [GO:0006954]; signal transduction [GO:0007165]


uniprotID: P78552
geneSymbol: IL13RA1
reactome: R-HSA-6785807;
pdb: 3BPN;3BPO;4HWB;5E4E;
length: 427
go: ENSG00000131724;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-13 receptor subunit alpha-1 (IL-13 receptor subunit alpha-1) (IL-13R subunit alpha-1) (IL-13R-alpha-1) (IL-13RA1) (Cancer/testis antigen 19) (CT19) (CD antigen CD213a1)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; interleukin-13 receptor complex [GO:0005898]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; interleukin-13 receptor activity [GO:0016515]; cell surface receptor signaling pathway [GO:0007166]; cytokine-mediated signaling pathway [GO:0019221]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78552-1; Sequence=Displayed; Name=2; IsoId=P78552-2; Sequence=VSP_055587, VSP_055588; 


uniprotID: O95998
geneSymbol: IL18BP
reactome: R-HSA-9008059;R-HSA-9012546;
name: Interleukin-18-binding protein (IL-18BP) (Tadekinig-alfa)
length: 194
go: ENSG00000137496;
snps: rs5743672 rs5743673
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MTMRHNWTPDLSPLWVLLLCAHVVTLLVRATPVSQTTTAATASVRSTKDPCPSQPPVFPAAKQCPALEVTWPEVEVPLNGTLSLSCVACSRFPNFSILYWLGNGSFIEHLPGRLWEGSTSRERGSTGTQLCKALVLEQLTPALHSTNFSCVLVDPEQVVQRHVVLAQLWAGLRATLPPTQEALPSSHSSPQQQG

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; interleukin-18 binding [GO:0042007]; receptor antagonist activity [GO:0048019]; cellular response to cytokine stimulus [GO:0071345]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to tumor necrosis factor [GO:0071356]; interleukin-18-mediated signaling pathway [GO:0035655]; response to lipopolysaccharide [GO:0032496]; T-helper 1 type immune response [GO:0042088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; Synonyms=IL-18BPA; IsoId=O95998-2; Sequence=Displayed; Name=B; Synonyms=IL-18BPB; IsoId=O95998-3; Sequence=VSP_002515, VSP_002516; Name=D; Synonyms=IL-18BPD; IsoId=O95998-4; Sequence=VSP_037605, VSP_037606; 


uniprotID: Q8N6P7
geneSymbol: IL22RA1
reactome: R-HSA-8854691;
pdb: 3DGC;3DLQ;6DF3;
length: 574
go: ENSG00000142677;
snps: rs34900099 rs16829204 rs34379702 rs34782294 rs35401673 rs3795299
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-22 receptor subunit alpha-1 (IL-22 receptor subunit alpha-1) (IL-22R-alpha-1) (IL-22RA1) (Cytokine receptor class-II member 9) (Cytokine receptor family 2 member 9) (CRF2-9) (ZcytoR11)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; interferon receptor activity [GO:0004904]; interleukin-20 binding [GO:0042015]; cytokine-mediated signaling pathway [GO:0019221]; defense response to Gram-negative bacterium [GO:0050829]


uniprotID: A6NMX2
geneSymbol: EIF4E1B
name: Eukaryotic translation initiation factor 4E type 1B
length: 242
go: ENSG00000175766;
snps: rs13163938
sequence:

opentargets:
cytoplasm [GO:0005737]; mRNA cap binding complex [GO:0005845]; translation initiation factor activity [GO:0003743]; regulation of translation [GO:0006417]


uniprotID: P32019
geneSymbol: INPP5B
reactome: R-HSA-1855183;R-HSA-1855204;R-HSA-194840;
pdb: 3MTC;3N9V;4CML;5A7I;5A7J;
length: 993
go: ENSG00000204084;
snps: rs56993041 rs11488569
name:
Type II inositol 1,4,5-trisphosphate 5-phosphatase (EC 3.1.3.36) (75 kDa inositol polyphosphate-5-phosphatase) (Phosphoinositide 5-phosphatase) (5PTase)

sequence:

opentargets:
cytosol [GO:0005829]; early endosome membrane [GO:0031901]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; inositol phosphate phosphatase activity [GO:0052745]; inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity [GO:0052659]; inositol-1,4,5-trisphosphate 5-phosphatase activity [GO:0052658]; metal ion binding [GO:0046872]; phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [GO:0004439]; flagellated sperm motility [GO:0030317]; in utero embryonic development [GO:0001701]; inositol phosphate dephosphorylation [GO:0046855]; inositol phosphate metabolic process [GO:0043647]; phosphatidylinositol dephosphorylation [GO:0046856]; regulation of protein processing [GO:0070613]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P32019-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=P32019-2; Sequence=VSP_012820; Name=3; IsoId=P32019-3; Sequence=VSP_012821; Name=4; IsoId=P32019-4; Sequence=VSP_013902, VSP_013903; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:7721860}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269|PubMed:17956944}. Early endosome membrane {ECO:0000269|PubMed:17956944}. Membrane {ECO:0000269|PubMed:7721860}; Peripheral membrane protein {ECO:0000305|PubMed:7721860}; Cytoplasmic side {ECO:0000305|PubMed:7721860}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:Q8K337}. Golgi apparatus {ECO:0000269|PubMed:17956944}.


uniprotID: P22692
geneSymbol: IGFBP4
reactome: R-HSA-381426;R-HSA-8957275;
pdb: 1WQJ;2DSP;2DSQ;2DSR;
name: Insulin-like growth factor-binding protein 4 (IBP-4) (IGF-binding protein 4) (IGFBP-4)
length: 258
go: ENSG00000141753;
snps: rs599199
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; insulin-like growth factor I binding [GO:0031994]; insulin-like growth factor II binding [GO:0031995]; signaling receptor binding [GO:0005102]; cell proliferation [GO:0008283]; cellular protein metabolic process [GO:0044267]; DNA metabolic process [GO:0006259]; inflammatory response [GO:0006954]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; positive regulation of insulin-like growth factor receptor signaling pathway [GO:0043568]; positive regulation of MAPK cascade [GO:0043410]; post-translational protein modification [GO:0043687]; regulation of cell growth [GO:0001558]; regulation of glucose metabolic process [GO:0010906]; signal transduction [GO:0007165]; skeletal system development [GO:0001501]; type B pancreatic cell proliferation [GO:0044342]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22692-1; Sequence=Displayed; Name=2; IsoId=P22692-2; Sequence=VSP_057034; Note=No experimental confirmation available.; 


uniprotID: Q16270
geneSymbol: IGFBP7
reactome: R-HSA-2559582;R-HSA-381426;R-HSA-8957275;
length: 282
go: ENSG00000163453;
drug: DB00030;DB00071;
snps: rs11573021 rs11555284 rs1133243
location: SUBCELLULAR LOCATION: Secreted.
name:
Insulin-like growth factor-binding protein 7 (IBP-7) (IGF-binding protein 7) (IGFBP-7) (IGFBP-rP1) (MAC25 protein) (PGI2-stimulating factor) (Prostacyclin-stimulating factor) (Tumor-derived adhesion factor) (TAF)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; insulin-like growth factor binding [GO:0005520]; cell adhesion [GO:0007155]; cellular protein metabolic process [GO:0044267]; cellular response to hormone stimulus [GO:0032870]; embryo implantation [GO:0007566]; negative regulation of cell proliferation [GO:0008285]; post-translational protein modification [GO:0043687]; regulation of cell growth [GO:0001558]; regulation of steroid biosynthetic process [GO:0050810]; response to cortisol [GO:0051414]; response to heat [GO:0009408]; response to retinoic acid [GO:0032526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16270-1; Sequence=Displayed; Name=2; IsoId=Q16270-2; Sequence=VSP_045297; 


uniprotID: Q8WX77
geneSymbol: IGFBPL1
length: 278
go: ENSG00000137142;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15845387}.
name:
Insulin-like growth factor-binding protein-like 1 (IGFBP-related protein 10) (Insulin-like growth factor-binding-related protein 4) (IGFBP-rP4)

sequence:

opentargets:
extracellular space [GO:0005615]; insulin-like growth factor binding [GO:0005520]; cellular response to tumor cell [GO:0071228]; regulation of cell growth [GO:0001558]


uniprotID: A6NK44
geneSymbol: GLOD5
pdb: 3ZW5;
name: Glyoxalase domain-containing protein 5
length: 160
go: ENSG00000171433;
sequence:
MLRHLPSRLPVKMWGRTLEKQSWRDSSQTPPPCLIRRLDHIVMTVKSIKDTTMFYSKILGMEVMTFKEDRKALCFGDQKFNLHEVGKEFEPKAAHPVPGSLDICLITEVPLEEMIQHLKACDVPIEEGPVPRTGAKGPIMSIYFRDPDRNLIEVSNYISS


uniprotID: Q8NDH6
geneSymbol: ICA1L
length: 482
go: ENSG00000163596;
name:
Islet cell autoantigen 1-like protein (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 14 protein) (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 15 protein)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; protein domain specific binding [GO:0019904]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDH6-1; Sequence=Displayed; Name=2; IsoId=Q8NDH6-2; Sequence=VSP_017107; Note=No experimental confirmation available.; 


uniprotID: P02724
geneSymbol: GYPA
reactome: R-HSA-202733;
pdb: 1AFO;1MSR;2KPE;2KPF;5EH4;5EH6;
name: Glycophorin-A (MN sialoglycoprotein) (PAS-2) (Sialoglycoprotein alpha) (CD antigen CD235a)
length: 150
go: ENSG00000170180;
snps: rs4449373 rs4449373 rs7682260 rs7658293 rs7687256 rs56077914 rs56172553 rs1800582
sequence:
MYGKIIFVLLLSEIVSISASSTTGVAMHTSTSSSVTKSYISSQTNDTHKRDTYAATPRAHEVSEISVRTVYPPEEETGERVQLAHHFSEPEITLIIFGVMAGVIGTILLISYGIRRLIKKSPSDVKPLPSPDTDVPLSSVEIENPETSDQ

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; virus receptor activity [GO:0001618]; leukocyte migration [GO:0050900]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P02724-1; Sequence=Displayed; Name=2; IsoId=P02724-2; Sequence=VSP_047822; Name=3; IsoId=P02724-3; Sequence=VSP_047823; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11402026}; Single-pass type I membrane protein {ECO:0000269|PubMed:11402026}. Note=Appears to be colocalized with SLC4A1.


uniprotID: P20810
geneSymbol: CAST
reactome: R-HSA-1474228;R-HSA-8862803;
name: Calpastatin (Calpain inhibitor) (Sperm BS-17 component)
length: 708
go: ENSG00000153113;
drug: DB01373;
snps: rs1643702 rs754615 rs4948
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; membrane [GO:0016020]; cadherin binding [GO:0045296]; calcium-dependent cysteine-type endopeptidase inhibitor activity [GO:0010859]; endopeptidase inhibitor activity [GO:0004866]; protease binding [GO:0002020]; RNA binding [GO:0003723]; inhibition of cysteine-type endopeptidase activity [GO:0097340]; negative regulation of type B pancreatic cell apoptotic process [GO:2000675]; presynaptic active zone organization [GO:1990709]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P20810-1; Sequence=Displayed; Name=2; IsoId=P20810-2; Sequence=VSP_000744; Name=3; IsoId=P20810-3; Sequence=VSP_000741, VSP_000744; Name=4; IsoId=P20810-4; Sequence=VSP_000742, VSP_000743; Name=5; IsoId=P20810-5; Sequence=VSP_038037, VSP_000744; Name=6; IsoId=P20810-6; Sequence=VSP_038038; Name=7; IsoId=P20810-7; Sequence=VSP_038038, VSP_000743; Name=8; IsoId=P20810-8; Sequence=VSP_000742; Note=No experimental confirmation available.; Name=9; IsoId=P20810-9; Sequence=VSP_047393; Note=Gene prediction based on EST data. {ECO:0000244|PubMed:20068231}; Name=10; IsoId=P20810-10; Sequence=VSP_038037; Note=No experimental confirmation available. {ECO:0000244|PubMed:20068231}; 


uniprotID: P06028
geneSymbol: GYPB
reactome: R-HSA-202733;
name: Glycophorin-B (PAS-3) (SS-active sialoglycoprotein) (Sialoglycoprotein delta) (CD antigen CD235b)
sequence: MYGKIIFVLLLSEIVSISALSTTEVAMHTSTSSSVTKSYISSQTNGETGQLVHRFTVPAPVVIILIILCVMAGIIGTILLISYSIRRLIKA
length: 91
go: ENSG00000250361;
snps: rs199937833 rs7683365 rs370332485 rs374811215 rs1132783
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; leukocyte migration [GO:0050900]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P06028-1; Sequence=Displayed; Name=2; IsoId=P06028-2; Sequence=VSP_047824; 


uniprotID: P04921
geneSymbol: GYPC
reactome: R-HSA-202733;
pdb: 2EJY;
length: 128
go: ENSG00000136732;
snps: rs121912760 rs121912761 rs774359594 rs28370000
name:
Glycophorin-C (Glycoconnectin) (Glycophorin-D) (GPD) (Glycoprotein beta) (PAS-2') (Sialoglycoprotein D) (CD antigen CD236)

sequence:
MWSTRSPNSTAWPLSLEPDPGMASASTTMHTTTIAEPDPGMSGWPDGRMETSTPTIMDIVVIAGVIAAVAIVLVSLLFVMLRYMYRHKGTYHTNEAKGTEFAESADAALQGDPALQDAGDSSRKEYFI

opentargets:
cortical cytoskeleton [GO:0030863]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; leukocyte migration [GO:0050900]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Glycophorin-C; IsoId=P04921-1; Sequence=Displayed; Name=Glycophorin-D; IsoId=P04921-2; Sequence=VSP_001777; Name=3; Synonyms=IsoGPC; IsoId=P04921-3; Sequence=VSP_054790; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type III membrane protein. Note=Linked to the membrane via band 4.1.


uniprotID: Q6ZS86
geneSymbol: GK5
length: 529
go: ENSG00000175066;
name:
Putative glycerol kinase 5 (GK 5) (Glycerokinase 5) (EC 2.7.1.30) (ATP:glycerol 3-phosphotransferase 5)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; glycerol kinase activity [GO:0004370]; glycerol catabolic process [GO:0019563]; glycerol metabolic process [GO:0006071]; glycerol-3-phosphate biosynthetic process [GO:0046167]; phosphorylation [GO:0016310]; triglyceride metabolic process [GO:0006641]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZS86-1; Sequence=Displayed; Name=2; IsoId=Q6ZS86-2; Sequence=VSP_032122, VSP_032123; Name=3; IsoId=Q6ZS86-3; Sequence=VSP_032121; 


uniprotID: Q14409
geneSymbol: GK3P
reactome: R-HSA-75109;
length: 553
go: ENSG00000229894;
name:
Glycerol kinase 3 (GK 3) (Glycerokinase 3) (EC 2.7.1.30) (ATP:glycerol 3-phosphotransferase 3) (Glycerol kinase 3 pseudogene) (Glycerol kinase, testis specific 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; glycerol kinase activity [GO:0004370]; glycerol catabolic process [GO:0019563]; glycerol metabolic process [GO:0006071]; glycerol-3-phosphate biosynthetic process [GO:0046167]; phosphorylation [GO:0016310]; triglyceride metabolic process [GO:0006641]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=In sperm the majority of the enzyme is bound to mitochondria. {ECO:0000250}.


uniprotID: O60725
geneSymbol: ICMT
reactome: R-HSA-163841;
length: 284
go: ENSG00000116237;
name:
Protein-S-isoprenylcysteine O-methyltransferase (EC 2.1.1.100) (Isoprenylcysteine carboxylmethyltransferase) (Prenylated protein carboxyl methyltransferase) (PPMT) (Prenylcysteine carboxyl methyltransferase) (pcCMT)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; protein C-terminal carboxyl O-methyltransferase activity [GO:0003880]; protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity [GO:0004671]; C-terminal protein methylation [GO:0006481]; cellular protein modification process [GO:0006464]; post-translational protein modification [GO:0043687]; protein targeting to membrane [GO:0006612]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19158273}; Multi-pass membrane protein {ECO:0000269|PubMed:19158273}.


uniprotID: O75144
geneSymbol: ICOSLG
reactome: R-HSA-388841;
length: 302
go: ENSG00000160223;ENSG00000277117;
snps: rs11558819
name:
ICOS ligand (B7 homolog 2) (B7-H2) (B7-like protein Gl50) (B7-related protein 1) (B7RP-1) (CD antigen CD275)

sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; signaling receptor binding [GO:0005102]; adaptive immune response [GO:0002250]; B cell activation [GO:0042113]; defense response [GO:0006952]; hyperosmotic response [GO:0006972]; positive regulation of activated T cell proliferation [GO:0042104]; regulation of immune response [GO:0050776]; signal transduction [GO:0007165]; T cell activation [GO:0042110]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=O75144-1; Sequence=Displayed; Name=2; IsoId=O75144-2; Sequence=VSP_002520; Name=3; IsoId=O75144-3; Sequence=VSP_054718; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11007762}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: Q9Y6W8
geneSymbol: ICOS
reactome: R-HSA-1257604;R-HSA-2219530;R-HSA-388841;R-HSA-6811558;
length: 199
go: ENSG00000163600;
name:
Inducible T-cell costimulator (Activation-inducible lymphocyte immunomediatory molecule) (CD antigen CD278)

sequence:
MKSGLWYFFLFCLRIKVLTGEINGSANYEMFIFHNGGVQILCKYPDIVQQFKMQLLKGGQILCDLTKTKGSGNTVSIKSLKFCHSQLSNNSVSFFLYNLDHSHANYYFCNLSIFDPPPFKVTLTGGYLHIYESQLCCQLKFWLPIGCAAFVVVCILGCILICWLTKKKYSSSVHDPNGEYMFMRAVNTAKKSRLTDVTL

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; cell-cell adhesion [GO:0098609]; immune response [GO:0006955]; positive regulation of protein kinase B signaling [GO:0051897]; T cell costimulation [GO:0031295]; T cell tolerance induction [GO:0002517]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6W8-1; Sequence=Displayed; Name=2; IsoId=Q9Y6W8-2; Sequence=VSP_010788; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: P32189
geneSymbol: GK
reactome: R-HSA-75109;
name: Glycerol kinase (GK) (Glycerokinase) (EC 2.7.1.30) (ATP:glycerol 3-phosphotransferase)
length: 559
go: ENSG00000198814;
snps: rs17857267 rs17854203 rs132630331 rs132630328 rs132630330
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; glycerol kinase activity [GO:0004370]; glycerol catabolic process [GO:0019563]; glycerol metabolic process [GO:0006071]; glycerol-3-phosphate biosynthetic process [GO:0046167]; phosphorylation [GO:0016310]; triglyceride biosynthetic process [GO:0019432]; triglyceride metabolic process [GO:0006641]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=3; IsoId=P32189-3; Sequence=Displayed; Name=1; IsoId=P32189-1; Sequence=VSP_000770, VSP_000771; Name=2; IsoId=P32189-2; Sequence=VSP_000770; Name=4; IsoId=P32189-4; Sequence=VSP_000771; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Note=In sperm and fetal tissues, the majority of the enzyme is bound to mitochondria, but in adult tissues, such as liver found in the cytoplasm.


uniprotID: Q14197
geneSymbol: MRPL58
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 206
go: ENSG00000167862;
snps: rs3744206 rs10512599 rs34496172
name:
Peptidyl-tRNA hydrolase ICT1, mitochondrial (EC 3.1.1.29) (39S ribosomal protein L58, mitochondrial) (MRP-L58) (Digestion substraction 1) (DS-1) (Immature colon carcinoma transcript 1 protein) (Mitochondrial large ribosomal subunit protein mL62)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; aminoacyl-tRNA hydrolase activity [GO:0004045]; translation release factor activity, codon nonspecific [GO:0016150]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20186120, ECO:0000269|PubMed:23908630, ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.


uniprotID: Q02535
geneSymbol: ID3
pdb: 2LFH;
length: 119
go: ENSG00000117318;
snps: rs11574 rs11542317
location: SUBCELLULAR LOCATION: Nucleus.
name:
DNA-binding protein inhibitor ID-3 (Class B basic helix-loop-helix protein 25) (bHLHb25) (Helix-loop-helix protein HEIR-1) (ID-like protein inhibitor HLH 1R21) (Inhibitor of DNA binding 3) (Inhibitor of differentiation 3)

sequence:
MKALSPVRGCYEAVCCLSERSLAIARGRGKGPAAEEPLSLLDDMNHCYSRLRELVPGVPRGTQLSQVEILQRVIDYILDLQVVLAEPAPGPPDGPHLPIQTAELTPELVISNDKRSFCH

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; leptomycin B binding [GO:1901707]; protein dimerization activity [GO:0046983]; protein domain specific binding [GO:0019904]; RNA polymerase II transcription factor binding [GO:0001085]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cellular response to leptomycin B [GO:0072750]; central nervous system development [GO:0007417]; circadian rhythm [GO:0007623]; epithelial cell differentiation [GO:0030855]; heart development [GO:0007507]; metanephros development [GO:0001656]; multicellular organism development [GO:0007275]; muscle organ development [GO:0007517]; negative regulation of DNA binding [GO:0043392]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron differentiation [GO:0030182]; notochord development [GO:0030903]; odontogenesis [GO:0042476]; positive regulation of apoptotic process [GO:0043065]; regulation of cell cycle [GO:0051726]; regulation of DNA replication [GO:0006275]; response to wounding [GO:0009611]; transcription, DNA-templated [GO:0006351]


uniprotID: Q9H3P7
geneSymbol: ACBD3
reactome: R-HSA-432722;
pdb: 2N72;2N73;5LZ1;5LZ3;5LZ6;5TDQ;
length: 528
go: ENSG00000182827;
snps: rs2306120
name:
Golgi resident protein GCP60 (Acyl-CoA-binding domain-containing protein 3) (Golgi complex-associated protein 1) (GOCAP1) (Golgi phosphoprotein 1) (GOLPH1) (PBR- and PKA-associated protein 7) (Peripheral benzodiazepine receptor-associated protein PAP7) [Cleaved into: Golgi resident protein GCP60, N-terminally processed]

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; mitochondrion [GO:0005739]; fatty-acyl-CoA binding [GO:0000062]; protein kinase A regulatory subunit binding [GO:0034237]; steroid biosynthetic process [GO:0006694]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:27009356}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Mitochondrion {ECO:0000250}. Note=Also mitochondrial (via its interaction with PBR). {ECO:0000250}.


uniprotID: P62873
geneSymbol: GNB1
pdb: 4KFM;4PNK;5HE0;5HE1;5HE2;5HE3;5UKK;5UKL;5UKM;5UZ7;6B3J;6D9H;6DDE;6DDF;6E3Y;6G79;6GDG;
name: Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 (Transducin beta chain 1)
length: 340
go: ENSG00000078369;
reactome:
R-HSA-1296041;R-HSA-163359;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;

sequence:

opentargets:
cell body [GO:0044297]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; heterotrimeric G-protein complex [GO:0005834]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; myelin sheath [GO:0043209]; photoreceptor disc membrane [GO:0097381]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment membrane [GO:0042622]; plasma membrane [GO:0005886]; alkylglycerophosphoethanolamine phosphodiesterase activity [GO:0047391]; GTPase activity [GO:0003924]; GTPase binding [GO:0051020]; protein-containing complex binding [GO:0044877]; spectrin binding [GO:0030507]; adenylate cyclase-activating dopamine receptor signaling pathway [GO:0007191]; cardiac muscle cell apoptotic process [GO:0010659]; cell proliferation [GO:0008283]; cellular response to catecholamine stimulus [GO:0071870]; cellular response to hypoxia [GO:0071456]; cellular response to prostaglandin E stimulus [GO:0071380]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; G protein-coupled receptor signaling pathway [GO:0007186]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; platelet activation [GO:0030168]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; protein folding [GO:0006457]; protein heterotrimerization [GO:0070208]; Ras protein signal transduction [GO:0007265]; retina development in camera-type eye [GO:0060041]; rhodopsin mediated signaling pathway [GO:0016056]; sensory perception of taste [GO:0050909]; signal transduction [GO:0007165]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

snps:
rs764997309 rs869312822 rs869312821 rs758432471 rs869312823 rs752746786 rs752746786 rs869312824 rs869312825 rs869312826 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P62873-1; Sequence=Displayed; Name=2; IsoId=P62873-2; Sequence=VSP_055232; Note=No experimental confirmation available.; 


uniprotID: P28472
geneSymbol: GABRB3
reactome: R-HSA-112314;R-HSA-977441;
pdb: 4COF;5O8F;5OJM;
name: Gamma-aminobutyric acid receptor subunit beta-3 (GABA(A) receptor subunit beta-3)
length: 473
go: ENSG00000166206;
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; cytoplasmic vesicle membrane [GO:0030659]; 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]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; GABA-A receptor activity [GO:0004890]; GABA-gated chloride ion channel activity [GO:0022851]; identical protein binding [GO:0042802]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; cellular response to histamine [GO:0071420]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; cochlea development [GO:0090102]; gamma-aminobutyric acid signaling pathway [GO:0007214]; inhibitory postsynaptic potential [GO:0060080]; inner ear receptor cell development [GO:0060119]; innervation [GO:0060384]; ion transmembrane transport [GO:0034220]; negative regulation of neuron apoptotic process [GO:0043524]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; roof of mouth development [GO:0060021]; sensory perception of sound [GO:0007605]; signal transduction [GO:0007165]

drug:
DB00659;DB00546;DB00404;DB00543;DB01558;DB00237;DB00241;DB00475;DB01594;DB00349;DB01068;DB00628;DB01559;DB01189;DB00829;DB00228;DB01049;DB01215;DB00402;DB00898;DB00189;DB00292;DB01567;DB01205;DB00690;DB06716;DB01437;DB00801;DB01159;DB00753;DB00602;DB00186;DB00371;DB00463;DB01028;DB01107;DB00683;DB01595;DB00334;DB00842;DB00312;DB00592;DB01708;DB01588;DB00794;DB00818;DB01589;DB01236;DB00306;DB00231;DB11582;DB00273;DB00897;

snps:
rs71651682 rs886037938 rs1057519550 rs17850679 rs886037939 rs121913125 rs886037940 rs1057519549 rs886037941 rs25409 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Isoforms differ in their signal region.; Name=1; IsoId=P28472-1; Sequence=Displayed; Name=2; IsoId=P28472-2; Sequence=VSP_000088; Name=3; IsoId=P28472-3; Sequence=VSP_046126; Note=No experimental confirmation available.; Name=4; IsoId=P28472-4; Sequence=VSP_046676; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein {ECO:0000269|PubMed:24909990}. Cell membrane {ECO:0000269|PubMed:18281286, ECO:0000269|PubMed:18514161, ECO:0000269|PubMed:22243422, ECO:0000269|PubMed:22303015, ECO:0000269|PubMed:24909990, ECO:0000269|PubMed:26950270}; Multi-pass membrane protein {ECO:0000269|PubMed:24909990}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P63079}.


uniprotID: O60383
geneSymbol: GDF9
name: Growth/differentiation factor 9 (GDF-9)
length: 454
go: ENSG00000164404;
snps: rs138136756 rs61754583 rs149821575 rs76349024 rs1205723048 rs373477788 rs118080183 rs61754582
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160]; BMP signaling pathway [GO:0030509]; cell development [GO:0048468]; female gamete generation [GO:0007292]; negative regulation of cell growth [GO:0030308]; oocyte growth [GO:0001555]; positive regulation of cell proliferation [GO:0008284]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; regulation of progesterone secretion [GO:2000870]; SMAD protein signal transduction [GO:0060395]; transforming growth factor beta receptor signaling pathway [GO:0007179]


uniprotID: Q6UXV0
geneSymbol: GFRAL
pdb: 5VZ4;
name: GDNF family receptor alpha-like
length: 394
snps: rs12199003 rs9370418
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; receptor complex [GO:0043235]; glial cell-derived neurotrophic factor receptor activity [GO:0016167]; receptor tyrosine kinase binding [GO:0030971]; activation of MAPK activity [GO:0000187]; glial cell-derived neurotrophic factor receptor signaling pathway [GO:0035860]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of neuron apoptotic process [GO:0043524]; nervous system development [GO:0007399]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of protein kinase B signaling [GO:0051897]; reduction of food intake in response to dietary excess [GO:0002023]; stress-activated protein kinase signaling cascade [GO:0031098]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28953886}; Single-pass membrane protein {ECO:0000269|PubMed:28953886}; Extracellular side {ECO:0000269|PubMed:28953886}.


uniprotID: P36269
geneSymbol: GGT5
reactome: R-HSA-174403;R-HSA-2142691;R-HSA-5423646;
length: 586
go: ENSG00000099998;
snps: rs5760274 rs2275984 rs6004105 rs7288201
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
name:
Glutathione hydrolase 5 proenzyme (EC 3.4.19.13) (Gamma-glutamyl transpeptidase-related enzyme) (GGT-rel) (Gamma-glutamyltransferase 5) (GGT 5) (EC 2.3.2.2) (Gamma-glutamyltransferase-like activity 1) (Gamma-glutamyltranspeptidase 5) (Leukotriene-C4 hydrolase) (EC 3.4.19.14) [Cleaved into: Glutathione hydrolase 5 heavy chain; Glutathione hydrolase 5 light chain]

sequence:

opentargets:
integral component of membrane [GO:0016021]; intrinsic component of plasma membrane [GO:0031226]; plasma membrane [GO:0005886]; glutathione hydrolase activity [GO:0036374]; hypoglycin A gamma-glutamyl transpeptidase activity [GO:0102953]; leukotriene C4 gamma-glutamyl transferase activity [GO:0103068]; leukotriene-C(4) hydrolase [GO:0002951]; peptidyltransferase activity [GO:0000048]; cellular amino acid metabolic process [GO:0006520]; cysteine biosynthetic process [GO:0019344]; fatty acid metabolic process [GO:0006631]; glutamate metabolic process [GO:0006536]; glutathione biosynthetic process [GO:0006750]; glutathione catabolic process [GO:0006751]; glutathione metabolic process [GO:0006749]; inflammatory response [GO:0006954]; leukotriene D4 biosynthetic process [GO:1901750]; leukotriene metabolic process [GO:0006691]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P36269-1; Sequence=Displayed; Name=2; IsoId=P36269-2; Sequence=VSP_008146; Note=No experimental confirmation available.; Name=3; IsoId=P36269-3; Sequence=VSP_043470; Note=No experimental confirmation available.; 


uniprotID: Q02643
geneSymbol: GHRHR
reactome: R-HSA-418555;R-HSA-420092;
pdb: 2XDG;
length: 423
go: ENSG00000106128;
drug: DB00010;DB08869;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Growth hormone-releasing hormone receptor (GHRH receptor) (Growth hormone-releasing factor receptor) (GRF receptor) (GRFR)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; nuclear inner membrane [GO:0005637]; nuclear matrix [GO:0016363]; nuclear outer membrane [GO:0005640]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; secretory granule [GO:0030141]; G protein-coupled peptide receptor activity [GO:0008528]; G protein-coupled receptor activity [GO:0004930]; growth factor binding [GO:0019838]; growth hormone-releasing hormone receptor activity [GO:0016520]; peptide hormone binding [GO:0017046]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cAMP-mediated signaling [GO:0019933]; cell maturation [GO:0048469]; cell surface receptor signaling pathway [GO:0007166]; cellular response to glucose stimulus [GO:0071333]; cellular response to insulin stimulus [GO:0032869]; determination of adult lifespan [GO:0008340]; G protein-coupled receptor signaling pathway [GO:0007186]; growth hormone secretion [GO:0030252]; hormone metabolic process [GO:0042445]; lactation [GO:0007595]; multicellular organismal reproductive process [GO:0048609]; positive regulation of cell proliferation [GO:0008284]; positive regulation of circadian sleep/wake cycle, non-REM sleep [GO:0046010]; positive regulation of growth hormone secretion [GO:0060124]; positive regulation of insulin-like growth factor receptor signaling pathway [GO:0043568]; positive regulation of multicellular organism growth [GO:0040018]; regulation of intracellular steroid hormone receptor signaling pathway [GO:0033143]; regulation of protein metabolic process [GO:0051246]; response to estrogen [GO:0043627]; response to glucocorticoid [GO:0051384]; response to insulin [GO:0032868]; somatotropin secreting cell development [GO:0060133]; water homeostasis [GO:0030104]

snps:
rs4988496 rs4988498 rs121918118 rs774281185 rs121918120 rs28371560 rs121918119 rs121918121 rs2228078 


uniprotID: A0A0C4DH39
geneSymbol: IGHV1-58
name: Immunoglobulin heavy variable 1-58
length: 117
go: ENSG00000211968;
sequence:
MDWIWRILFLVGAATGAHSQMQLVQSGPEVKKPGTSVKVSCKASGFTFTSSAVQWVRQARGQRLEWIGWIVVGSGNTNYAQKFQERVTITRDMSTSTAYMELSSLRSEDTAVYYCAA


uniprotID: O75496
geneSymbol: GMNN
reactome: R-HSA-68827;R-HSA-68962;
pdb: 1T6F;1UII;2LP0;2WVR;4BRY;
name: Geminin
length: 209
go: ENSG00000112312;
snps: rs34891389 rs864309488 rs1923185 rs2307307 rs2307306 rs2307302 rs2307303
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; histone deacetylase binding [GO:0042826]; repressing transcription factor binding [GO:0070491]; transcription corepressor activity [GO:0003714]; animal organ morphogenesis [GO:0009887]; DNA replication preinitiation complex assembly [GO:0071163]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of cell cycle [GO:0045786]; negative regulation of DNA replication [GO:0008156]; negative regulation of DNA-dependent DNA replication [GO:2000104]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of chromatin binding [GO:0035563]; regulation of DNA replication [GO:0006275]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Mainly cytoplasmic but can be relocalized to the nucleus.


uniprotID: P01780
geneSymbol: IGHV3-7
pdb: 2FL5;
length: 117
go: ENSG00000211938;
name:
Immunoglobulin heavy variable 3-7 (Ig heavy chain V-III region GAL) (Ig heavy chain V-III region GAR) (Ig heavy chain V-III region JON)

sequence:
MELGLSWVFLVAILEGVQCEVQLVESGGGLVQPGGSLRLSCAASGFTFSSYWMSWVRQAPGKGLEWVANIKQDGSEKYYVDSVKGRFTISRDNAKNSLYLQMNSLRAEDTAVYYCAR

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; 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: Q8ND71
geneSymbol: GIMAP8
name: GTPase IMAP family member 8 (Immune-associated nucleotide-binding protein 9) (IAN-9) (Protein IanT)
length: 665
go: ENSG00000171115;
snps: rs2293283
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; mitochondrion [GO:0005739]; GTP binding [GO:0005525]; regulation of T cell apoptotic process [GO:0070232]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250}. Golgi apparatus {ECO:0000250}. Mitochondrion {ECO:0000250}. Cytoplasm, cytosol {ECO:0000269|PubMed:23454188}.


uniprotID: Q9Y2X7
geneSymbol: GIT1
reactome: R-HSA-3928664;
length: 761
go: ENSG00000108262;
name:
ARF GTPase-activating protein GIT1 (ARF GAP GIT1) (Cool-associated and tyrosine-phosphorylated protein 1) (CAT-1) (CAT1) (G protein-coupled receptor kinase-interactor 1) (GRK-interacting protein 1)

sequence:

opentargets:
calyx of Held [GO:0044305]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; membrane [GO:0016020]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; protein-containing complex binding [GO:0044877]; ephrin receptor signaling pathway [GO:0048013]; presynaptic modulation of chemical synaptic transmission [GO:0099171]; regulation of cytokinesis [GO:0032465]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; regulation of synaptic vesicle exocytosis [GO:2000300]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y2X7-1; Sequence=Displayed; Name=2; IsoId=Q9Y2X7-2; Sequence=VSP_009666, VSP_009667; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y2X7-3; Sequence=VSP_040984; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11896197}. Note=Cycles between at least 3 distinct intracellular compartments, including focal adhesions, cytoplasmic complexes and membrane protrusions. During cell migration, when cells detach, moves from the adhesions into the cytoplasmic complexes towards the leading edge, while, when cells adhere, it is found in vinculin-containing adhesions. Recruitment to adhesions may be mediated by active tyrosine-phosphorylated paxillin.


uniprotID: P05362
geneSymbol: ICAM1
reactome: R-HSA-198933;R-HSA-216083;R-HSA-6783783;R-HSA-6785807;R-HSA-877300;
pdb: 1D3E;1D3I;1D3L;1IAM;1IC1;1IJ4;1MQ8;1P53;1Z7Z;2OZ4;3TCX;5MZA;6EIT;
name: Intercellular adhesion molecule 1 (ICAM-1) (Major group rhinovirus receptor) (CD antigen CD54)
length: 532
go: ENSG00000090339;
drug: DB08818;DB00108;
snps: rs5491 rs5491 rs5492 rs1799969 rs5495 rs1801714 rs5497 rs5498 rs5030400
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; immunological synapse [GO:0001772]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; integrin binding [GO:0005178]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; virus receptor activity [GO:0001618]; acute inflammatory response to antigenic stimulus [GO:0002438]; adhesion of symbiont to host [GO:0044406]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell aging [GO:0007569]; cellular response to alkaloid [GO:0071312]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to glucose stimulus [GO:0071333]; cellular response to hypoxia [GO:0071456]; cellular response to interleukin-1 [GO:0071347]; cellular response to interleukin-6 [GO:0071354]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to nutrient levels [GO:0031669]; cellular response to tumor necrosis factor [GO:0071356]; cytokine-mediated signaling pathway [GO:0019221]; establishment of endothelial barrier [GO:0061028]; establishment of endothelial intestinal barrier [GO:0090557]; establishment of Sertoli cell barrier [GO:0097368]; extracellular matrix organization [GO:0030198]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; interferon-gamma-mediated signaling pathway [GO:0060333]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; membrane to membrane docking [GO:0022614]; negative regulation of calcium ion transport [GO:0051926]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; ovarian follicle development [GO:0001541]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cellular extravasation [GO:0002693]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of leukocyte adhesion to vascular endothelial cell [GO:1904996]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of vasoconstriction [GO:0045907]; receptor-mediated virion attachment to host cell [GO:0046813]; regulation of cell shape [GO:0008360]; regulation of immune response [GO:0050776]; regulation of leukocyte mediated cytotoxicity [GO:0001910]; regulation of ruffle assembly [GO:1900027]; response to amino acid [GO:0043200]; response to amphetamine [GO:0001975]; response to copper ion [GO:0046688]; response to ethanol [GO:0045471]; response to gonadotropin [GO:0034698]; response to insulin [GO:0032868]; response to ionizing radiation [GO:0010212]; response to sulfur dioxide [GO:0010477]; sensory perception of sound [GO:0007605]; T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell [GO:0002291]; T cell antigen processing and presentation [GO:0002457]; T cell extravasation [GO:0072683]


uniprotID: P13598
geneSymbol: ICAM2
reactome: R-HSA-198933;R-HSA-216083;R-HSA-5621575;
pdb: 1ZXQ;
name: Intercellular adhesion molecule 2 (ICAM-2) (CD antigen CD102)
length: 275
go: ENSG00000108622;
snps: rs5503 rs5504 rs3764867
sequence:

opentargets:
cleavage furrow [GO:0032154]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; uropod [GO:0001931]; integrin binding [GO:0005178]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; extracellular matrix organization [GO:0030198]; regulation of immune response [GO:0050776]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}. Cell projection, microvillus {ECO:0000250|UniProtKB:P35330}. Note=Co-localizes with RDX, EZR and MSN in microvilli. {ECO:0000250|UniProtKB:P35330}.


uniprotID: Q9UMF0
geneSymbol: ICAM5
reactome: R-HSA-198933;R-HSA-216083;
pdb: 3BN3;4OI9;4OIA;4OIB;
name: Intercellular adhesion molecule 5 (ICAM-5) (Telencephalin)
length: 924
go: ENSG00000105376;
snps: rs1056538 rs2228615
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; integrin binding [GO:0005178]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; extracellular matrix organization [GO:0030198]; phagocytosis [GO:0006909]; regulation of immune response [GO:0050776]


uniprotID: O95838
geneSymbol: GLP2R
reactome: R-HSA-418555;R-HSA-420092;
name: Glucagon-like peptide 2 receptor (GLP-2 receptor) (GLP-2-R) (GLP-2R)
length: 553
go: ENSG00000065325;
drug: DB00040;DB08900;
snps: rs8072568 rs17681684 rs16958918
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; G protein-coupled receptor activity [GO:0004930]; glucagon receptor activity [GO:0004967]; peptide hormone binding [GO:0017046]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cell proliferation [GO:0008284]


uniprotID: P41134
geneSymbol: ID1
reactome: R-HSA-2559585;
length: 155
go: ENSG00000125968;
snps: rs1802548
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus.
name:
DNA-binding protein inhibitor ID-1 (Class B basic helix-loop-helix protein 24) (bHLHb24) (Inhibitor of DNA binding 1) (Inhibitor of differentiation 1)

sequence:
MKVASGSTATAAAGPSCALKAGKTASGAGEVVRCLSEQSVAISRCAGGAGARLPALLDEQQVNVLLYDMNGCYSRLKELVPTLPQNRKVSKVEILQHVIDYIRDLQLELNSESEVGTPGGRGLPVRAPLSTLNGEISALTAEAACVPADDRILCR

opentargets:
centrosome [GO:0005813]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proteasome binding [GO:0070628]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; protein N-terminus binding [GO:0047485]; protein self-association [GO:0043621]; RNA polymerase II transcription factor binding [GO:0001085]; transcription factor binding [GO:0008134]; angiogenesis [GO:0001525]; blood vessel endothelial cell migration [GO:0043534]; blood vessel morphogenesis [GO:0048514]; BMP signaling pathway [GO:0030509]; brain development [GO:0007420]; cell-abiotic substrate adhesion [GO:0036164]; cellular response to dopamine [GO:1903351]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to peptide [GO:1901653]; circadian rhythm [GO:0007623]; collagen metabolic process [GO:0032963]; endothelial cell morphogenesis [GO:0001886]; heart development [GO:0007507]; lung morphogenesis [GO:0060425]; lung vasculature development [GO:0060426]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of dendrite morphogenesis [GO:0050774]; negative regulation of DNA binding [GO:0043392]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of endothelial cell differentiation [GO:0045602]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of protein homodimerization activity [GO:0090074]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription by transcription factor localization [GO:0010621]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron differentiation [GO:0030182]; positive regulation of actin filament bundle assembly [GO:0032233]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of gene expression [GO:0010628]; protein destabilization [GO:0031648]; regulation of angiogenesis [GO:0045765]; regulation of cell cycle [GO:0051726]; regulation of MAPK cascade [GO:0043408]; response to antibiotic [GO:0046677]; transcription, DNA-templated [GO:0006351]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=ID-A; IsoId=P41134-1; Sequence=Displayed; Name=ID-B; IsoId=P41134-2; Sequence=VSP_002108; 


uniprotID: Q02363
geneSymbol: ID2
pdb: 4AYA;
length: 134
go: ENSG00000115738;
name:
DNA-binding protein inhibitor ID-2 (Class B basic helix-loop-helix protein 26) (bHLHb26) (Inhibitor of DNA binding 2) (Inhibitor of differentiation 2)

sequence:
MKAFSPVRSVRKNSLSDHSLGISRSKTPVDDPMSLLYNMNDCYSKLKELVPSIPQNKKVSKMEILQHVIDYILDLQIALDSHPTIVSLHHQRPGQNQASRTPLTTLNTDISILSLQASEFPSELMSNDSKALCG

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; ion channel binding [GO:0044325]; protein dimerization activity [GO:0046983]; RNA polymerase II transcription factor binding [GO:0001085]; transcription factor binding [GO:0008134]; adipose tissue development [GO:0060612]; adult locomotory behavior [GO:0008344]; bundle of His development [GO:0003166]; cell maturation [GO:0048469]; cell morphogenesis involved in neuron differentiation [GO:0048667]; cellular response to lithium ion [GO:0071285]; cellular senescence [GO:0090398]; circadian regulation of gene expression [GO:0032922]; circadian rhythm [GO:0007623]; embryonic digestive tract morphogenesis [GO:0048557]; endodermal digestive tract morphogenesis [GO:0061031]; entrainment of circadian clock by photoperiod [GO:0043153]; enucleate erythrocyte differentiation [GO:0043353]; epithelial cell differentiation involved in mammary gland alveolus development [GO:0061030]; locomotor rhythm [GO:0045475]; mammary gland alveolus development [GO:0060749]; mammary gland epithelial cell proliferation [GO:0033598]; membranous septum morphogenesis [GO:0003149]; metanephros development [GO:0001656]; multicellular organism development [GO:0007275]; natural killer cell differentiation [GO:0001779]; negative regulation of B cell differentiation [GO:0045578]; negative regulation of DNA binding [GO:0043392]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of gene expression [GO:0010629]; negative regulation of neural precursor cell proliferation [GO:2000178]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of oligodendrocyte differentiation [GO:0048715]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron differentiation [GO:0030182]; neuron fate commitment [GO:0048663]; olfactory bulb development [GO:0021772]; oligodendrocyte development [GO:0014003]; Peyer's patch development [GO:0048541]; positive regulation of astrocyte differentiation [GO:0048711]; positive regulation of blood pressure [GO:0045777]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of gene expression [GO:0010628]; positive regulation of macrophage differentiation [GO:0045651]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0071931]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell cycle [GO:0051726]; regulation of circadian rhythm [GO:0042752]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; regulation of lipid metabolic process [GO:0019216]; thigmotaxis [GO:0001966]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P41136}. Nucleus {ECO:0000250|UniProtKB:P41136}.


uniprotID: P47928
geneSymbol: ID4
length: 161
go: ENSG00000172201;
location: SUBCELLULAR LOCATION: Nucleus.
name:
DNA-binding protein inhibitor ID-4 (Class B basic helix-loop-helix protein 27) (bHLHb27) (Inhibitor of DNA binding 4) (Inhibitor of differentiation 4)

sequence:
MKAVSPVRPSGRKAPSGCGGGELALRCLAEHGHSLGGSAAAAAAAAAARCKAAEAAADEPALCLQCDMNDCYSRLRRLVPTIPPNKKVSKVEILQHVIDYILDLQLALETHPALLRQPPPPAPPHHPAGTCPAAPPRTPLTALNTDPAGAVNKQGDSILCR

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; RNA polymerase II transcription factor binding [GO:0001085]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cellular protein localization [GO:0034613]; central nervous system myelination [GO:0022010]; cerebral cortex neuron differentiation [GO:0021895]; circadian rhythm [GO:0007623]; fat cell differentiation [GO:0045444]; G1/S transition of mitotic cell cycle [GO:0000082]; hippocampus development [GO:0021766]; negative regulation of astrocyte differentiation [GO:0048712]; negative regulation of DNA binding [GO:0043392]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of oligodendrocyte differentiation [GO:0048715]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuroblast proliferation [GO:0007405]; neuron differentiation [GO:0030182]; positive regulation of cell proliferation [GO:0008284]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of transcription by RNA polymerase II [GO:0045944]; prostate gland epithelium morphogenesis [GO:0060740]; prostate gland stromal morphogenesis [GO:0060741]; regulation of cell cycle [GO:0051726]; regulation of transcription by RNA polymerase II [GO:0006357]; seminal vesicle morphogenesis [GO:0061682]


uniprotID: P98153
geneSymbol: DGCR2
name: Integral membrane protein DGCR2/IDD
length: 550
go: ENSG00000070413;
snps: rs2072123
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; animal organ morphogenesis [GO:0009887]; cell adhesion [GO:0007155]; cognition [GO:0050890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P98153-1; Sequence=Displayed; Name=2; IsoId=P98153-2; Sequence=VSP_042886; Note=No experimental confirmation available.; Name=3; IsoId=P98153-3; Sequence=VSP_057188, VSP_057189; 


uniprotID: P23415
geneSymbol: GLRA1
reactome: R-HSA-112314;
pdb: 1MOT;1VRY;2M6B;2M6I;4X5T;
length: 457
go: ENSG00000145888;
name:
Glycine receptor subunit alpha-1 (Glycine receptor 48 kDa subunit) (Glycine receptor strychnine-binding subunit)

sequence:

opentargets:
calyx of Held [GO:0044305]; cell junction [GO:0030054]; chloride channel complex [GO:0034707]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; external side of plasma membrane [GO:0009897]; glycinergic synapse [GO:0098690]; inhibitory synapse [GO:0060077]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; integral component of presynaptic membrane [GO:0099056]; intracellular membrane-bounded organelle [GO:0043231]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; extracellularly glycine-gated chloride channel activity [GO:0016934]; glycine binding [GO:0016594]; identical protein binding [GO:0042802]; taurine binding [GO:0030977]; transmembrane signaling receptor activity [GO:0004888]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; zinc ion binding [GO:0008270]; acrosome reaction [GO:0007340]; action potential [GO:0001508]; adult walking behavior [GO:0007628]; cellular response to amino acid stimulus [GO:0071230]; cellular response to ethanol [GO:0071361]; cellular response to zinc ion [GO:0071294]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; chloride transport [GO:0006821]; inhibitory postsynaptic potential [GO:0060080]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; muscle contraction [GO:0006936]; negative regulation of transmission of nerve impulse [GO:0051970]; nervous system process [GO:0050877]; neuromuscular process controlling posture [GO:0050884]; neuropeptide signaling pathway [GO:0007218]; positive regulation of acrosome reaction [GO:2000344]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; regulation of membrane potential [GO:0042391]; regulation of respiratory gaseous exchange by neurological system process [GO:0002087]; response to alcohol [GO:0097305]; response to amino acid [GO:0043200]; righting reflex [GO:0060013]; signal transduction [GO:0007165]; startle response [GO:0001964]; synaptic transmission, glycinergic [GO:0060012]; visual perception [GO:0007601]

drug:
DB03929;DB01189;DB00228;DB00898;DB01381;DB00145;DB05417;DB01159;DB00753;DB00431;DB01028;DB01236;DB11582;

snps:
rs199547699 rs751659671 rs121918409 rs121918413 rs281864918 rs121918411 rs121918408 rs121918408 rs121918412 rs121918410 rs281864919 rs200130685 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=a; IsoId=P23415-1; Sequence=Displayed; Name=b; IsoId=P23415-2; Sequence=VSP_021142; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q64018}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q64018}. Cell junction, synapse {ECO:0000250|UniProtKB:Q64018}. Perikaryon {ECO:0000250|UniProtKB:Q64018}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q64018}. Cell membrane {ECO:0000269|PubMed:14551753, ECO:0000269|PubMed:16144831, ECO:0000269|PubMed:2155780, ECO:0000269|PubMed:22715885, ECO:0000269|PubMed:22973015, ECO:0000269|PubMed:24108130, ECO:0000269|PubMed:25445488, ECO:0000269|PubMed:25730860, ECO:0000269|PubMed:25973519, ECO:0000269|PubMed:7920629, ECO:0000269|PubMed:7925268, ECO:0000269|PubMed:9009272}; Multi-pass membrane protein {ECO:0000269|PubMed:23994010, ECO:0000269|PubMed:25730860, ECO:0000305|PubMed:2155780}.


uniprotID: P23416
geneSymbol: GLRA2
reactome: R-HSA-112314;
name: Glycine receptor subunit alpha-2
length: 452
go: ENSG00000101958;
drug: DB00898;DB00145;DB00431;DB00466;
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; glycinergic synapse [GO:0098690]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; extracellularly glycine-gated chloride channel activity [GO:0016934]; glycine binding [GO:0016594]; glycine-gated chloride ion channel activity [GO:0022852]; metal ion binding [GO:0046872]; transmembrane signaling receptor activity [GO:0004888]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; cellular response to amino acid stimulus [GO:0071230]; cellular response to ethanol [GO:0071361]; cellular response to zinc ion [GO:0071294]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; neuropeptide signaling pathway [GO:0007218]; regulation of membrane potential [GO:0042391]; response to amino acid [GO:0043200]; signal transduction [GO:0007165]; synaptic transmission, glycinergic [GO:0060012]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Alpha-2*; IsoId=P23416-1; Sequence=Displayed; Name=Alpha-2B; IsoId=P23416-2; Sequence=VSP_000082; Name=3; IsoId=P23416-3; Sequence=VSP_045465; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q7TNC8}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P23415}. Cell junction, synapse {ECO:0000250|UniProtKB:Q7TNC8}. Cell membrane {ECO:0000269|PubMed:15302677, ECO:0000269|PubMed:16144831, ECO:0000269|PubMed:2155780, ECO:0000269|PubMed:23895467, ECO:0000269|PubMed:25445488}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P23415}. Cell projection {ECO:0000250|UniProtKB:Q7TNC8}.


uniprotID: O75311
geneSymbol: GLRA3
reactome: R-HSA-112314;
pdb: 5CFB;5TIN;5TIO;5VDH;5VDI;
name: Glycine receptor subunit alpha-3
length: 464
go: ENSG00000145451;
drug: DB00145;DB00602;DB00431;DB00466;
sequence:

opentargets:
cell junction [GO:0030054]; dendrite [GO:0030425]; glycine-gated chloride channel complex [GO:0016935]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; extracellularly glycine-gated chloride channel activity [GO:0016934]; glycine binding [GO:0016594]; glycine-gated chloride ion channel activity [GO:0022852]; metal ion binding [GO:0046872]; transmembrane signaling receptor activity [GO:0004888]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; neuropeptide signaling pathway [GO:0007218]; protein homooligomerization [GO:0051260]; regulation of membrane potential [GO:0042391]; response to amino acid [GO:0043200]; signal transduction [GO:0007165]; synaptic transmission, glycinergic [GO:0060012]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Alpha-3L; IsoId=O75311-1; Sequence=Displayed; Name=Alpha-3K; IsoId=O75311-2; Sequence=VSP_000084; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:P24524}; Multi-pass membrane protein {ECO:0000305}. Perikaryon {ECO:0000250|UniProtKB:P24524}. Cell projection, dendrite {ECO:0000250|UniProtKB:P24524}. Cell junction, synapse {ECO:0000250|UniProtKB:P24524}. Cell membrane {ECO:0000269|PubMed:26416729, ECO:0000269|PubMed:9677400}; Multi-pass membrane protein {ECO:0000269|PubMed:26416729}. Note=Partially colocalizes with GPHN that is known to mediate receptor clustering at postsynaptic membranes. {ECO:0000250|UniProtKB:P24524}.


uniprotID: O43837
geneSymbol: IDH3B
reactome: R-HSA-71403;
length: 385
go: ENSG00000101365;
drug: DB00157;
snps: rs3178817 rs137853020 rs11542741 rs8296
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial (Isocitric dehydrogenase subunit beta) (NAD(+)-specific ICDH subunit beta)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; electron transfer activity [GO:0009055]; isocitrate dehydrogenase (NAD+) activity [GO:0004449]; magnesium ion binding [GO:0000287]; NAD binding [GO:0051287]; isocitrate metabolic process [GO:0006102]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=B; IsoId=O43837-1; Sequence=Displayed; Name=A; IsoId=O43837-2; Sequence=VSP_002462; Name=C; IsoId=O43837-3; Sequence=VSP_041335; 


uniprotID: P51553
geneSymbol: IDH3G
reactome: R-HSA-1268020;R-HSA-71403;
pdb: 5GRE;5GRF;5GRH;5GRI;5GRL;5YVT;
length: 393
go: ENSG00000067829;
drug: DB00157;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11256614}.
name:
Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial (Isocitric dehydrogenase subunit gamma) (NAD(+)-specific ICDH subunit gamma)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; isocitrate dehydrogenase (NAD+) activity [GO:0004449]; magnesium ion binding [GO:0000287]; NAD binding [GO:0051287]; carbohydrate metabolic process [GO:0005975]; isocitrate metabolic process [GO:0006102]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51553-1; Sequence=Displayed; Name=2; IsoId=P51553-2; Sequence=VSP_046771; Note=Gene prediction based on EST data.; 


uniprotID: O76003
geneSymbol: GLRX3
reactome: R-HSA-917937;
pdb: 2DIY;2WZ9;2YAN;3ZYW;
length: 335
go: ENSG00000108010;
snps: rs13991 rs2274217
name:
Glutaredoxin-3 (PKC-interacting cousin of thioredoxin) (PICOT) (PKC-theta-interacting protein) (PKCq-interacting protein) (Thioredoxin-like protein 2)

sequence:

opentargets:
cell cortex [GO:0005938]; cytosol [GO:0005829]; dendrite [GO:0030425]; nucleus [GO:0005634]; Z disc [GO:0030018]; electron transfer activity [GO:0009055]; glutathione disulfide oxidoreductase activity [GO:0015038]; identical protein binding [GO:0042802]; iron-sulfur cluster binding [GO:0051536]; metal ion binding [GO:0046872]; protein disulfide oxidoreductase activity [GO:0015035]; protein kinase C binding [GO:0005080]; RNA binding [GO:0003723]; [2Fe-2S] cluster assembly [GO:0044571]; cell redox homeostasis [GO:0045454]; cellular iron ion homeostasis [GO:0006879]; negative regulation of cardiac muscle hypertrophy [GO:0010614]; protein maturation by iron-sulfur cluster transfer [GO:0097428]; regulation of the force of heart contraction [GO:0002026]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000305|PubMed:27519415}. Cytoplasm, cell cortex {ECO:0000269|PubMed:10636891}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:Q9CQM9}. Note=Under the plasma membrane (By similarity). After PMA stimulation, GLRX3 and PRKCQ/PKC-theta translocate to a more extended submembrane area (By similarity). In the Z line, found associated with CSRP3 (By similarity). {ECO:0000250|UniProtKB:Q9CQM9}.


uniprotID: Q13907
geneSymbol: IDI1
reactome: R-HSA-191273;R-HSA-2426168;
pdb: 2DHO;2I6K;2ICJ;2ICK;
length: 227
go: ENSG00000067064;
drug: DB01785;
location: SUBCELLULAR LOCATION: Peroxisome.
name:
Isopentenyl-diphosphate Delta-isomerase 1 (EC 5.3.3.2) (Isopentenyl pyrophosphate isomerase 1) (IPP isomerase 1) (IPPI1)

sequence:

opentargets:
cytosol [GO:0005829]; peroxisome [GO:0005777]; hydrolase activity [GO:0016787]; isopentenyl-diphosphate delta-isomerase activity [GO:0004452]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; metal ion binding [GO:0046872]; cholesterol biosynthetic process [GO:0006695]; dimethylallyl diphosphate biosynthetic process [GO:0050992]; isopentenyl diphosphate biosynthetic process [GO:0009240]; isoprenoid biosynthetic process [GO:0008299]; regulation of cholesterol biosynthetic process [GO:0045540]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13907-1; Sequence=Displayed; Name=2; IsoId=Q13907-2; Sequence=VSP_037889; 


uniprotID: Q86SR1
geneSymbol: GALNT10
reactome: R-HSA-913709;
pdb: 2D7I;2D7R;
length: 603
go: ENSG00000164574;
name:
Polypeptide N-acetylgalactosaminyltransferase 10 (EC 2.4.1.41) (Polypeptide GalNAc transferase 10) (GalNAc-T10) (pp-GaNTase 10) (Protein-UDP acetylgalactosaminyltransferase 10) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10)

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]; O-glycan processing [GO:0016266]; protein O-linked glycosylation [GO:0006493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86SR1-1; Sequence=Displayed; Name=2; IsoId=Q86SR1-2; Sequence=VSP_011209; Note=No experimental confirmation available.; Name=3; IsoId=Q86SR1-3; Sequence=VSP_011212, VSP_011213; Note=No experimental confirmation available.; Name=4; IsoId=Q86SR1-4; Sequence=VSP_011207, VSP_011208, VSP_011214; Note=No experimental confirmation available.; 


uniprotID: Q8NCW6
geneSymbol: GALNT11
reactome: R-HSA-913709;
length: 608
go: ENSG00000178234;
snps: rs6464201 rs3778922
name:
Polypeptide N-acetylgalactosaminyltransferase 11 (EC 2.4.1.41) (Polypeptide GalNAc transferase 11) (GalNAc-T11) (pp-GaNTase 11) (Protein-UDP acetylgalactosaminyltransferase 11) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11)

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]; Notch binding [GO:0005112]; polypeptide N-acetylgalactosaminyltransferase activity [GO:0004653]; cilium assembly [GO:0060271]; determination of left/right symmetry [GO:0007368]; Notch receptor processing [GO:0007220]; Notch signaling involved in heart development [GO:0061314]; O-glycan processing [GO:0016266]; protein O-linked glycosylation via threonine [GO:0018243]; regulation of Notch signaling pathway [GO:0008593]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCW6-1; Sequence=Displayed; Name=2; IsoId=Q8NCW6-2; Sequence=VSP_011215, VSP_011216; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:11925450}; Single-pass type II membrane protein {ECO:0000269|PubMed:11925450}.


uniprotID: Q9NZD2
geneSymbol: GLTP
reactome: R-HSA-1660662;
name: Glycolipid transfer protein (GLTP)
length: 209
go: ENSG00000139433;
drug: DB03600;DB04465;DB03017;DB04224;DB03203;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17980653}.
pdb:
1SWX;1SX6;2EUK;2EUM;2EVD;2EVL;2EVS;2EVT;3RIC;3RWV;3RZN;3S0I;3S0K;4GH0;4GHP;4GHS;4GIX;4GJQ;4GVT;4GXD;4GXG;4H2Z;

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; ceramide 1-phosphate binding [GO:1902387]; ceramide 1-phosphate transporter activity [GO:1902388]; glycolipid binding [GO:0051861]; glycolipid transporter activity [GO:0017089]; identical protein binding [GO:0042802]; intermembrane lipid transfer activity [GO:0120013]; lipid binding [GO:0008289]; ceramide transport [GO:0035627]; glycosphingolipid metabolic process [GO:0006687]; intermembrane lipid transfer [GO:0120009]


uniprotID: Q7Z3D6
geneSymbol: DGLUCY
name: D-glutamate cyclase, mitochondrial (EC 4.2.1.48)
length: 616
go: ENSG00000133943;
snps: rs10142502 rs34302825 rs12895348 rs2295524 rs34523602 rs34748911
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:Q8BH86}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; D-glutamate cyclase activity [GO:0047820]; glutamate metabolic process [GO:0006536]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q7Z3D6-1; Sequence=Displayed; Name=2; IsoId=Q7Z3D6-2; Sequence=VSP_010506; Name=3; IsoId=Q7Z3D6-3; Sequence=VSP_010506, VSP_010509; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z3D6-4; Sequence=VSP_010506, VSP_010510, VSP_010511; 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.; Name=5; IsoId=Q7Z3D6-5; Sequence=VSP_010508, VSP_010509; Note=No experimental confirmation available.; Name=6; IsoId=Q7Z3D6-6; Sequence=VSP_010505, VSP_010507; Note=No experimental confirmation available.; 


uniprotID: P14314
geneSymbol: PRKCSH
reactome: R-HSA-381426;R-HSA-532668;R-HSA-879415;R-HSA-8957275;R-HSA-901042;
length: 528
go: ENSG00000130175;
snps: rs10406672 rs11557488 rs35847588
name:
Glucosidase 2 subunit beta (80K-H protein) (Glucosidase II subunit beta) (Protein kinase C substrate 60.1 kDa protein heavy chain) (PKCSH)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; glucosidase II complex [GO:0017177]; intracellular [GO:0005622]; intracellular membrane-bounded organelle [GO:0043231]; calcium ion binding [GO:0005509]; ion channel binding [GO:0044325]; phosphoprotein binding [GO:0051219]; protein kinase C binding [GO:0005080]; cellular protein metabolic process [GO:0044267]; intracellular signal transduction [GO:0035556]; N-glycan processing [GO:0006491]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14314-1; Sequence=Displayed; Name=2; IsoId=P14314-2; Sequence=VSP_043749; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000305|PubMed:10929008}.


uniprotID: Q7Z4T8
geneSymbol: GALNTL5
reactome: R-HSA-913709;
length: 443
go: ENSG00000106648;
snps: rs6960270 rs61729482
name:
Inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 (Polypeptide GalNAc transferase 15) (GalNAc-T15) (pp-GaNTase 15) (Protein-UDP acetylgalactosaminyltransferase 15) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 15)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; metal ion binding [GO:0046872]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z4T8-1; Sequence=Displayed; Name=2; IsoId=Q7Z4T8-2; Sequence=VSP_011227, VSP_011228; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Note=Localizes to the juxtanuclear region, possibly the late endosome. Not localized in the Golgi apparatus in round spermatids (By similarity). {ECO:0000250}.


uniprotID: Q49A17
geneSymbol: GALNTL6
reactome: R-HSA-913709;
length: 601
go: ENSG00000174473;
name:
Polypeptide N-acetylgalactosaminyltransferase-like 6 (EC 2.4.1.41) (Polypeptide GalNAc transferase 17) (GalNAc-T17) (pp-GaNTase 17) (Protein-UDP acetylgalactosaminyltransferase 17) (Putative polypeptide N-acetylgalactosaminyltransferase 17) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17)

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 threonine [GO:0018243]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q49A17-1; Sequence=Displayed; Name=2; IsoId=Q49A17-2; Sequence=VSP_032402; 


uniprotID: P22304
geneSymbol: IDS
reactome: R-HSA-2024096;R-HSA-2024101;R-HSA-2206296;
pdb: 5FQL;
length: 550
go: ENSG00000010404;
location: SUBCELLULAR LOCATION: Lysosome.
name:
Iduronate 2-sulfatase (EC 3.1.6.13) (Alpha-L-iduronate sulfate sulfatase) (Idursulfase) [Cleaved into: Iduronate 2-sulfatase 42 kDa chain; Iduronate 2-sulfatase 14 kDa chain]

sequence:

opentargets:
lysosomal lumen [GO:0043202]; iduronate-2-sulfatase activity [GO:0004423]; metal ion binding [GO:0046872]; sulfuric ester hydrolase activity [GO:0008484]; chondroitin sulfate catabolic process [GO:0030207]; glycosaminoglycan catabolic process [GO:0006027]

snps:
rs193302909 rs113993954 rs113993949 rs398123249 rs193302911 rs104894861 rs104894856 rs398123250 rs864622779 rs193302905 rs146458524 rs1085308006 rs145807417 rs201048643 rs104894853 rs199422229 rs113993946 rs113993946 rs199422231 rs864622773 rs199422228 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=P22304-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P22304-2; Sequence=VSP_006301, VSP_006302; Name=3; IsoId=P22304-3; Sequence=VSP_039116, VSP_039117; Note=No experimental confirmation available.; 


uniprotID: O14602
geneSymbol: EIF1AY
length: 144
go: ENSG00000198692;
opentargets: translation initiation factor activity [GO:0003743]
name:
Eukaryotic translation initiation factor 1A, Y-chromosomal (eIF-1A Y isoform) (Eukaryotic translation initiation factor 4C) (eIF-4C)

sequence:
MPKNKGKGGKNRRRGKNENESEKRELVFKEDGQEYAQVIKMLGNGRLEALCFDGVKRLCHIRGKLRKKVWINTSDIILVGLRDYQDNKADVILKYNADEARSLKAYGELPEHAKINETDTFGPGDDDEIQFDDIGDDDEDIDDI


uniprotID: P46976
geneSymbol: GYG1
reactome: R-HSA-3322077;R-HSA-3785653;R-HSA-3814836;R-HSA-3828062;R-HSA-5357609;R-HSA-6798695;R-HSA-70221;
pdb: 3Q4S;3QVB;3RMV;3RMW;3T7M;3T7N;3T7O;3U2T;3U2U;3U2V;3U2W;3U2X;6EQJ;6EQL;
name: Glycogenin-1 (GN-1) (GN1) (EC 2.4.1.186)
length: 350
go: ENSG00000163754;
drug: DB01861;DB03435;
snps: rs267606858 rs143137713
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; lysosomal lumen [GO:0043202]; membrane [GO:0016020]; secretory granule lumen [GO:0034774]; glycogenin glucosyltransferase activity [GO:0008466]; metal ion binding [GO:0046872]; UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity [GO:0102751]; glycogen biosynthetic process [GO:0005978]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=GN-1L; IsoId=P46976-1; Sequence=Displayed; Name=GN-1; IsoId=P46976-2; Sequence=VSP_001769; Name=GN-1S; IsoId=P46976-3; Sequence=VSP_001768; 


uniprotID: Q5SZD4
geneSymbol: GLYATL3
reactome: R-HSA-177128;R-HSA-177135;
name: Glycine N-acyltransferase-like protein 3 (EC 2.3.1.-)
length: 288
go: ENSG00000203972;
opentargets: mitochondrion [GO:0005739]; glycine N-acyltransferase activity [GO:0047961]
sequence:


uniprotID: Q96IK5
geneSymbol: GMCL1
name: Germ cell-less protein-like 1
length: 515
go: ENSG00000087338;
location: SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000250}.
sequence:

opentargets:
nuclear matrix [GO:0016363]; identical protein binding [GO:0042802]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]


uniprotID: Q49A26
geneSymbol: GLYR1
pdb: 2UYY;4GUR;4GUS;4GUT;4GUU;4HSU;
length: 553
go: ENSG00000140632;
snps: rs34176249 rs2085329 rs17703111
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16352664}.
name:
Putative oxidoreductase GLYR1 (EC 1.-.-.-) (3-hydroxyisobutyrate dehydrogenase-like protein) (Cytokine-like nuclear factor N-PAC) (Glyoxylate reductase 1 homolog) (Nuclear protein NP60) (Nuclear protein of 60 kDa)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; DNA binding [GO:0003677]; histone binding [GO:0042393]; methylated histone binding [GO:0035064]; NAD binding [GO:0051287]; NADP binding [GO:0050661]; oxidoreductase activity [GO:0016491]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q49A26-1; Sequence=Displayed; Name=2; IsoId=Q49A26-2; Sequence=VSP_029707; Note=No experimental confirmation available.; Name=5; IsoId=Q49A26-5; Sequence=VSP_038222; Note=No experimental confirmation available.; Name=3; IsoId=Q49A26-3; Sequence=VSP_029708; Note=No experimental confirmation available.; Name=4; IsoId=Q49A26-4; Sequence=VSP_029706; Note=No experimental confirmation available.; 


uniprotID: Q9Y692
geneSymbol: GMEB1
pdb: 1OQJ;
length: 573
go: ENSG00000162419;
snps: rs11557120
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=May be also cytoplasmic.
name:
Glucocorticoid modulatory element-binding protein 1 (GMEB-1) (DNA-binding protein p96PIF) (Parvovirus initiation factor p96) (PIF p96)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y692-1; Sequence=Displayed; Name=2; IsoId=Q9Y692-2; Sequence=VSP_005970; 


uniprotID: P60983
geneSymbol: GMFB
name: Glia maturation factor beta (GMF-beta)
length: 142
go: ENSG00000197045;
sequence:
MSESLVVCDVAEDLVEKLRKFRFRKETNNAAIIMKIDKDKRLVVLDEELEGISPDELKDELPERQPRFIVYSYKYQHDDGRVSYPLCFIFSSPVGCKPEQQMMYAGSKNKLVQTAELTKVFEIRNTEDLTEEWLREKLGFFH

opentargets:
intracellular [GO:0005622]; actin binding [GO:0003779]; Arp2/3 complex binding [GO:0071933]; enzyme activator activity [GO:0008047]; growth factor activity [GO:0008083]; protein kinase inhibitor activity [GO:0004860]; learning [GO:0007612]; locomotory behavior [GO:0007626]; negative regulation of Arp2/3 complex-mediated actin nucleation [GO:0034316]; nervous system development [GO:0007399]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]


uniprotID: P23083
geneSymbol: IGHV1-2
pdb: 1WT5;
name: Immunoglobulin heavy variable 1-2 (Ig heavy chain V-I region ND) (Ig heavy chain V-I region V35)
length: 117
go: ENSG00000211934;
drug: DB08294;DB08295;DB08273;
sequence:
MDWTWRILFLVAAATGAHSQVQLVQSGAEVKKPGASVKVSCKASGYTFTGYYMHWVRQAPGQGLEWMGWINPNSGGTNYAQKFQGWVTMTRDTSISTAYMELSRLRSDDTAVYYCAR


uniprotID: Q6P531
geneSymbol: GGT6
reactome: R-HSA-174403;R-HSA-5423646;
length: 493
go: ENSG00000167741;
snps: rs7216284 rs11657054
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
name:
Glutathione hydrolase 6 (EC 3.4.19.13) (Gamma-glutamyltransferase 6) (GGT 6) (EC 2.3.2.2) (Gamma-glutamyltranspeptidase 6) [Cleaved into: Glutathione hydrolase 6 heavy chain; Glutathione hydrolase 6 light chain]

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; glutathione hydrolase activity [GO:0036374]; hypoglycin A gamma-glutamyl transpeptidase activity [GO:0102953]; leukotriene C4 gamma-glutamyl transferase activity [GO:0103068]; glutathione biosynthetic process [GO:0006750]; glutathione catabolic process [GO:0006751]; leukotriene D4 biosynthetic process [GO:1901750]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P531-1; Sequence=Displayed; Name=2; IsoId=Q6P531-2; Sequence=VSP_030451; 


uniprotID: P28356
geneSymbol: HOXD9
name: Homeobox protein Hox-D9 (Homeobox protein Hox-4C) (Homeobox protein Hox-5.2)
length: 352
go: ENSG00000128709;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; adult locomotory behavior [GO:0008344]; anterior/posterior pattern specification [GO:0009952]; embryonic forelimb morphogenesis [GO:0035115]; embryonic skeletal system morphogenesis [GO:0048704]; hindlimb morphogenesis [GO:0035137]; mammary gland development [GO:0030879]; negative regulation of transcription by RNA polymerase II [GO:0000122]; peripheral nervous system neuron development [GO:0048935]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proximal/distal pattern formation [GO:0009954]; single fertilization [GO:0007338]; skeletal muscle tissue development [GO:0007519]; transcription, DNA-templated [GO:0006351]


uniprotID: P08151
geneSymbol: GLI1
reactome: R-HSA-5610780;R-HSA-5610787;R-HSA-5632684;R-HSA-5635851;
pdb: 2GLI;4BLB;4KMD;5OM0;
name: Zinc finger protein GLI1 (Glioma-associated oncogene) (Oncogene GLI)
length: 1106
go: ENSG00000111087;
snps: rs2228224 rs2229300 rs2228226
sequence:

opentargets:
axoneme [GO:0005930]; ciliary base [GO:0097546]; ciliary tip [GO:0097542]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; microtubule binding [GO:0008017]; 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]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription regulatory region DNA binding [GO:0044212]; canonical Wnt signaling pathway [GO:0060070]; cerebellar cortex morphogenesis [GO:0021696]; digestive tract morphogenesis [GO:0048546]; dorsal/ventral pattern formation [GO:0009953]; epidermal cell differentiation [GO:0009913]; liver regeneration [GO:0097421]; lung development [GO:0030324]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; notochord regression [GO:0060032]; osteoblast differentiation [GO:0001649]; pituitary gland development [GO:0021983]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell cycle G1/S phase transition [GO:1902808]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA replication [GO:0045740]; positive regulation of smoothened signaling pathway [GO:0045880]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; prostate gland development [GO:0030850]; proximal/distal pattern formation [GO:0009954]; regulation of hepatocyte proliferation [GO:2000345]; regulation of osteoblast differentiation [GO:0045667]; regulation of smoothened signaling pathway [GO:0008589]; response to wounding [GO:0009611]; smoothened signaling pathway [GO:0007224]; smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation [GO:0021938]; spermatogenesis [GO:0007283]; ventral midline development [GO:0007418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P08151-1; Sequence=Displayed; Name=2; Synonyms=tGLI1; IsoId=P08151-2; Sequence=VSP_042215; Note=Undetectable in normal cells but highly expressed in cancer cells.; Name=3; IsoId=P08151-3; Sequence=VSP_054829; Note=No experimental confirmation available. Gene prediction based on partial mRNA and EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10806483, ECO:0000269|PubMed:19706761, ECO:0000269|PubMed:19878745}. Nucleus {ECO:0000269|PubMed:10806483, ECO:0000269|PubMed:11238441, ECO:0000269|PubMed:19706761, ECO:0000269|PubMed:19878745, ECO:0000269|PubMed:2105456}. Note=Tethered in the cytoplasm by binding to SUFU (PubMed:10806483). Activation and translocation to the nucleus is promoted by interaction with STK36 (PubMed:10806483). Phosphorylation by ULK3 may promote nuclear localization (PubMed:19878745). Translocation to the nucleus is promoted by interaction with ZIC1 (PubMed:11238441). {ECO:0000269|PubMed:10806483, ECO:0000269|PubMed:11238441, ECO:0000269|PubMed:19878745}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:19706761}. Nucleus {ECO:0000269|PubMed:19706761}.


uniprotID: P10070
geneSymbol: GLI2
reactome: R-HSA-5610783;R-HSA-5610787;R-HSA-5632684;R-HSA-5635851;R-HSA-8941284;
name: Zinc finger protein GLI2 (GLI family zinc finger protein 2) (Tax helper protein)
length: 1586
go: ENSG00000074047;
sequence:

opentargets:
axoneme [GO:0005930]; ciliary base [GO:0097546]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytosol [GO:0005829]; membrane [GO:0016020]; motile cilium [GO:0031514]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; promoter-specific chromatin binding [GO:1990841]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; anterior/posterior pattern specification [GO:0009952]; axon guidance [GO:0007411]; branching morphogenesis of an epithelial tube [GO:0048754]; cell proliferation [GO:0008283]; cellular response to organic cyclic compound [GO:0071407]; cellular response to virus [GO:0098586]; cerebellar cortex morphogenesis [GO:0021696]; chondrocyte differentiation [GO:0002062]; cochlea morphogenesis [GO:0090103]; developmental growth [GO:0048589]; embryonic digestive tract development [GO:0048566]; embryonic digit morphogenesis [GO:0042733]; epidermal cell differentiation [GO:0009913]; floor plate formation [GO:0021508]; heart development [GO:0007507]; hindbrain development [GO:0030902]; hindgut morphogenesis [GO:0007442]; in utero embryonic development [GO:0001701]; kidney development [GO:0001822]; lung development [GO:0030324]; mammary gland development [GO:0030879]; mammary gland duct morphogenesis [GO:0060603]; negative regulation of apoptotic process [GO:0043066]; negative regulation of chondrocyte differentiation [GO:0032331]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron development [GO:0048666]; notochord regression [GO:0060032]; odontogenesis of dentin-containing tooth [GO:0042475]; osteoblast development [GO:0002076]; osteoblast differentiation [GO:0001649]; pattern specification process [GO:0007389]; pituitary gland development [GO:0021983]; positive regulation of DNA replication [GO:0045740]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of T cell differentiation in thymus [GO:0033089]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; prostatic bud formation [GO:0060513]; proximal/distal pattern formation [GO:0009954]; regulation of smoothened signaling pathway [GO:0008589]; skeletal system development [GO:0001501]; smoothened signaling pathway [GO:0007224]; smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:0060831]; smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation [GO:0021938]; smoothened signaling pathway involved in spinal cord motor neuron cell fate specification [GO:0021776]; smoothened signaling pathway involved in ventral spinal cord interneuron specification [GO:0021775]; spinal cord dorsal/ventral patterning [GO:0021513]; spinal cord ventral commissure morphogenesis [GO:0021965]; tube development [GO:0035295]; ventral midline development [GO:0007418]; ventral spinal cord development [GO:0021517]

snps:
rs13427953 rs121917708 rs12618388 rs149800897 rs3099537 rs1272759660 rs3738880 rs12711538 rs149140724 rs146467786 rs114814747 rs138987487 rs767802807 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=5; Synonyms=GLI2 {ECO:0000303|PubMed:15994174}; IsoId=P10070-5; Sequence=Displayed; Name=1; Synonyms=Alpha, GLI2star, GLI2deltaN {ECO:0000303|PubMed:15994174, ECO:0000303|PubMed:9557682}; IsoId=P10070-1; Sequence=VSP_035708; Name=2; Synonyms=Beta {ECO:0000303|PubMed:9557682}; IsoId=P10070-2; Sequence=VSP_035708, VSP_006877; Name=3; Synonyms=Gamma {ECO:0000303|PubMed:9557682}; IsoId=P10070-3; Sequence=VSP_035708, VSP_006878, VSP_006879; Name=4; Synonyms=Delta {ECO:0000303|PubMed:9557682}; IsoId=P10070-4; Sequence=VSP_035708, VSP_006877, VSP_006878, VSP_006879; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26565916}. Cytoplasm {ECO:0000250|UniProtKB:Q0VGT2}. Cell projection, cilium {ECO:0000250|UniProtKB:Q0VGT2}. Note=STK36 promotes translocation to the nucleus. In keratinocytes, it is sequestered in the cytoplasm by SUFU. In the absence of SUFU, it translocates to the nucleus. {ECO:0000250|UniProtKB:Q0VGT2}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:9557682}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:9557682}.


uniprotID: P48060
geneSymbol: GLIPR1
reactome: R-HSA-1989781;R-HSA-6798695;
pdb: 3Q2R;3Q2U;
name: Glioma pathogenesis-related protein 1 (GliPR 1) (Protein RTVP-1)
length: 266
go: ENSG00000139278;
drug: DB05337;
snps: rs28932170 rs3736392
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; neutrophil degranulation [GO:0043312]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48060-1; Sequence=Displayed; Name=2; Synonyms=RTVP-1b; IsoId=P48060-2; Sequence=VSP_043902; Note=Highly expressed in glioblastomas.; 


uniprotID: P35557
geneSymbol: GCK
reactome: R-HSA-170822;R-HSA-210745;R-HSA-5619073;R-HSA-5619107;R-HSA-70171;
name: Glucokinase (EC 2.7.1.2) (Hexokinase type IV) (HK IV) (Hexokinase-4) (HK4) (Hexokinase-D)
length: 465
go: ENSG00000106633;
drug: DB02379;
pdb:
1GLK;1V4S;1V4T;3A0I;3F9M;3FGU;3FR0;3GOI;3H1V;3ID8;3IDH;3IMX;3QIC;3S41;3VEV;3VEY;3VF6;4DCH;4DHY;4ISE;4ISF;4ISG;4IWV;4IXC;4L3Q;4LC9;4MLE;4MLH;4NO7;4RCH;5V4W;5V4X;

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; fructokinase activity [GO:0008865]; glucokinase activity [GO:0004340]; glucose binding [GO:0005536]; mannokinase activity [GO:0019158]; calcium ion import [GO:0070509]; canonical glycolysis [GO:0061621]; cellular glucose homeostasis [GO:0001678]; cellular response to insulin stimulus [GO:0032869]; cellular response to leptin stimulus [GO:0044320]; detection of glucose [GO:0051594]; glucose 6-phosphate metabolic process [GO:0051156]; glucose homeostasis [GO:0042593]; glycolytic process [GO:0006096]; NADP metabolic process [GO:0006739]; negative regulation of gluconeogenesis [GO:0045721]; positive regulation of glycogen biosynthetic process [GO:0045725]; positive regulation of insulin secretion [GO:0032024]; regulation of glycolytic process [GO:0006110]; regulation of insulin secretion [GO:0050796]; regulation of potassium ion transport [GO:0043266]

snps:
rs202091228 rs116093166 rs762263694 rs794727236 rs1486280029 rs764232985 rs267601516 rs373418736 rs193922289 rs1338970607 rs1176659689 rs104894010 rs193922297 rs587780344 rs587780345 rs751279776 rs193922307 rs1085307455 rs193922311 rs1441649062 rs80356654 rs104894015 rs147065275 rs193922317 rs148311934 rs80356655 rs759421263 rs769268803 rs1375656631 rs104894008 rs104894005 rs104894009 rs1255911887 rs1000236360 rs1057521092 rs193922264 rs104894016 rs777870079 rs1376620210 rs1167124132 rs193929375 rs193922272 rs1286804191 rs758737171 rs1131691416 rs193922282 rs104894012 rs104894014 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P35557-1; Sequence=Displayed; Name=2; IsoId=P35557-2; Sequence=VSP_002074; Name=3; IsoId=P35557-3; Sequence=VSP_002075; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10456334, ECO:0000269|PubMed:24187134}. Nucleus {ECO:0000269|PubMed:10456334, ECO:0000269|PubMed:24187134}. Note=Under low glucose concentrations, GCK associates with GKRP and the inactive complex is recruited to the hepatocyte nucleus. {ECO:0000269|PubMed:10456334}.


uniprotID: Q8WWB7
geneSymbol: GLMP
name: Glycosylated lysosomal membrane protein (Lysosomal protein NCU-G1)
length: 406
go: ENSG00000198715;
snps: rs1570805 rs10908496 rs10908495
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; nuclear receptor activity [GO:0004879]; nuclear receptor transcription coactivator activity [GO:0030374]; transcription regulatory region DNA binding [GO:0044212]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WWB7-1; Sequence=Displayed; Name=2; IsoId=Q8WWB7-2; Sequence=VSP_037842; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:19556463}; Single-pass type I membrane protein {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:19556463}.


uniprotID: Q14626
geneSymbol: IL11RA
reactome: R-HSA-6788467;
length: 422
go: ENSG00000137070;
drug: DB00038;
snps: rs11575589 rs387906785 rs387906786 rs387906784 rs11575580
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-11 receptor subunit alpha (IL-11 receptor subunit alpha) (IL-11R subunit alpha) (IL-11R-alpha) (IL-11RA)

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-11 binding [GO:0019970]; interleukin-11 receptor activity [GO:0004921]; transmembrane signaling receptor activity [GO:0004888]; cytokine-mediated signaling pathway [GO:0019221]; developmental process [GO:0032502]; head development [GO:0060322]; positive regulation of cell proliferation [GO:0008284]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=HCR1; Synonyms=Membrane form; IsoId=Q14626-1; Sequence=Displayed; Name=HCR2; Synonyms=Soluble form, sIL11RA; IsoId=Q14626-2; Sequence=VSP_011879; Note=Lacks the entire cytoplasmic domain.; 


uniprotID: P42701
geneSymbol: IL12RB1
reactome: R-HSA-9020591;R-HSA-9020933;
length: 662
go: ENSG00000096996;
snps: rs17884651 rs17887176 rs11575926 rs121434494 rs11575934 rs17884957 rs375947 rs401502
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-12 receptor subunit beta-1 (IL-12 receptor subunit beta-1) (IL-12R subunit beta-1) (IL-12R-beta-1) (IL-12RB1) (IL-12 receptor beta component) (CD antigen CD212)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; interleukin-12 receptor complex [GO:0042022]; interleukin-23 receptor complex [GO:0072536]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; cellular response to interferon-gamma [GO:0071346]; cytokine-mediated signaling pathway [GO:0019221]; interleukin-12-mediated signaling pathway [GO:0035722]; interleukin-23-mediated signaling pathway [GO:0038155]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of memory T cell differentiation [GO:0043382]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; positive regulation of T-helper 1 type immune response [GO:0002827]; positive regulation of T-helper 17 cell lineage commitment [GO:2000330]; positive regulation of T-helper 17 type immune response [GO:2000318]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=P42701-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P42701-2; Sequence=VSP_001715; Name=3; IsoId=P42701-3; Sequence=VSP_037043, VSP_037044; 


