# annotation

uniprotID: Q14CZ8
geneSymbol: HEPACAM
name: Hepatocyte cell adhesion molecule (Protein hepaCAM)
length: 416
go: ENSG00000165478;
sequence:

opentargets:
axon [GO:0030424]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; cell adhesion [GO:0007155]; cell cycle arrest [GO:0007050]; cellular protein localization [GO:0034613]; regulation of growth [GO:0040008]

snps:
rs387907054 rs387907053 rs387907050 rs387907055 rs387907052 rs387907049 rs387907051 rs10790715 rs149782549 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:15885354}; IsoId=Q14CZ8-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14702039}; IsoId=Q14CZ8-2; Sequence=VSP_052497, VSP_052498; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15885354, ECO:0000269|PubMed:15917256}. Membrane; Single-pass type I membrane protein; Cytoplasmic side {ECO:0000269|PubMed:15885354, ECO:0000269|PubMed:15917256}. Note=In MCF-7 breast carcinoma and hepatic Hep 3B2.1-7 and Hep-G2 cell lines, localization of HEPACAM is cell density-dependent. In well spread cells, localized to punctate structures in the perinuclear membrane, cytoplasm, and at cell surface of protusions. In confluent cells, localized predominantly to the cytoplasmic membrane, particularly in areas of cell-cell contacts. Colocalizes with CDH1.


uniprotID: Q5T447
geneSymbol: HECTD3
reactome: R-HSA-983168;
length: 861
go: ENSG00000126107;
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250}.
name:
E3 ubiquitin-protein ligase HECTD3 (EC 2.3.2.26) (HECT domain-containing protein 3) (HECT-type E3 ubiquitin transferase HECTD3)

sequence:

opentargets:
perinuclear region of cytoplasm [GO:0048471]; syntaxin binding [GO:0019905]; ubiquitin-protein transferase activity [GO:0004842]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T447-1; Sequence=Displayed; Name=2; IsoId=Q5T447-2; Sequence=VSP_019439, VSP_019440; Note=No experimental confirmation available.; 


uniprotID: Q76N89
geneSymbol: HECW1
reactome: R-HSA-4641258;
pdb: 3L4H;
length: 1606
go: ENSG00000002746;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14684739}.
name:
E3 ubiquitin-protein ligase HECW1 (EC 2.3.2.26) (HECT, C2 and WW domain-containing protein 1) (HECT-type E3 ubiquitin transferase HECW1) (NEDD4-like E3 ubiquitin-protein ligase 1) (hNEDL1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ubiquitin protein ligase activity [GO:0061630]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of sodium ion transmembrane transporter activity [GO:2000650]; positive regulation of protein catabolic process [GO:0045732]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of dendrite morphogenesis [GO:0048814]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q76N89-1; Sequence=Displayed; Name=2; IsoId=Q76N89-2; Sequence=VSP_054642; Note=No experimental confirmation available.; 


uniprotID: P22557
geneSymbol: ALAS2
reactome: R-HSA-189451;
length: 587
go: ENSG00000158578;
drug: DB00145;DB00114;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:14643893}.
name:
5-aminolevulinate synthase, erythroid-specific, mitochondrial (ALAS-E) (EC 2.3.1.37) (5-aminolevulinic acid synthase 2) (Delta-ALA synthase 2) (Delta-aminolevulinate synthase 2)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 5-aminolevulinate synthase activity [GO:0003870]; coenzyme binding [GO:0050662]; glycine binding [GO:0016594]; pyridoxal phosphate binding [GO:0030170]; cellular iron ion homeostasis [GO:0006879]; erythrocyte differentiation [GO:0030218]; heme biosynthetic process [GO:0006783]; hemoglobin biosynthetic process [GO:0042541]; oxygen homeostasis [GO:0032364]; protoporphyrinogen IX biosynthetic process [GO:0006782]; response to hypoxia [GO:0001666]

snps:
rs137852308 rs137852301 rs137852310 rs1338391423 rs185504937 rs137852300 rs137852305 rs137852311 rs863223904 rs137852299 rs201062903 rs892041887 rs139596860 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P22557-1; Sequence=Displayed; Name=2; Synonyms=Delta4; IsoId=P22557-2; Sequence=VSP_042852; Note=Constitutes 35-45% of erythrocytes ALAS2 mRNAs. Catalytic activity is 70% of isoform 1 activity.; Name=3; Synonyms=F143M; IsoId=P22557-3; Sequence=VSP_042851, VSP_042853; Note=Catalytic activity is 80% of isoform 1 activity.; Name=4; IsoId=P22557-4; Sequence=VSP_047330, VSP_042852; 


uniprotID: Q14641
geneSymbol: INSL4
length: 139
go: ENSG00000120211;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Early placenta insulin-like peptide (EPIL) (Insulin-like peptide 4) (Placentin) [Cleaved into: Early placenta insulin-like peptide B chain; Early placenta insulin-like peptide A chain]

sequence:
MASLFRSYLPAIWLLLSQLLRESLAAELRGCGPRFGKHLLSYCPMPEKTFTTTPGGWLLESGRPKEMVSTSNNKDGQALGTTSEFIPNLSPELKKPLSEGQPSLKKIILSRKKRSGRHRFDPFCCEVICDDGTSVKLCT

opentargets:
extracellular space [GO:0005615]; hormone activity [GO:0005179]; insulin-like growth factor receptor binding [GO:0005159]; signaling receptor binding [GO:0005102]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; female pregnancy [GO:0007565]; multicellular organism development [GO:0007275]; signal transduction [GO:0007165]


uniprotID: Q9Y5Q6
geneSymbol: INSL5
reactome: R-HSA-418594;R-HSA-444821;
pdb: 2K1V;2KBC;
length: 135
go: ENSG00000172410;
snps: rs549148
location: SUBCELLULAR LOCATION: Secreted.
name:
Insulin-like peptide INSL5 (Insulin-like peptide 5) [Cleaved into: Insulin-like peptide INSL5 B chain; Insulin-like peptide INSL5 A chain]

sequence:
MKGSIFTLFLFSVLFAISEVRSKESVRLCGLEYIRTVIYICASSRWRRHQEGIPQAQQAETGNSFQLPHKREFSEENPAQNLPKVDASGEDRLWGGQMPTEELWKSKKHSVMSRQDLQTLCCTDGCSMTDLSALC

opentargets:
extracellular region [GO:0005576]; G protein-coupled receptor binding [GO:0001664]; hormone activity [GO:0005179]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of feeding behavior [GO:2000253]


uniprotID: Q9Y581
geneSymbol: INSL6
length: 213
go: ENSG00000120210;
opentargets: extracellular region [GO:0005576]; hormone activity [GO:0005179]
snps: rs2149554
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Insulin-like peptide INSL6 (Insulin-like peptide 6) (Relaxin/insulin-like factor 1) [Cleaved into: Insulin-like peptide INSL6 B chain; Insulin-like peptide INSL6 A chain]

sequence:


uniprotID: Q01101
geneSymbol: INSM1
reactome: R-HSA-210746;
pdb: 2LV2;3ZMS;
name: Insulinoma-associated protein 1 (Zinc finger protein IA-1)
length: 510
go: ENSG00000173404;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; chromatin DNA binding [GO:0031490]; cyclin binding [GO:0030332]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; adrenal chromaffin cell differentiation [GO:0061104]; cell cycle [GO:0007049]; endocrine pancreas development [GO:0031018]; negative regulation of cell proliferation [GO:0008285]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of transcription by RNA polymerase II [GO:0000122]; noradrenergic neuron development [GO:0003358]; norepinephrine biosynthetic process [GO:0042421]; pancreatic A cell differentiation [GO:0003310]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell migration [GO:0030335]; positive regulation of neural precursor cell proliferation [GO:2000179]; regulation of gene expression [GO:0010468]; regulation of protein complex assembly [GO:0043254]; sympathetic ganglion development [GO:0061549]; transdifferentiation [GO:0060290]; type B pancreatic cell development [GO:0003323]; type B pancreatic cell differentiation [GO:0003309]


uniprotID: P13196
geneSymbol: ALAS1
reactome: R-HSA-189451;R-HSA-1989781;R-HSA-2151201;
length: 640
go: ENSG00000023330;
drug: DB00145;DB00114;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
5-aminolevulinate synthase, nonspecific, mitochondrial (ALAS-H) (EC 2.3.1.37) (5-aminolevulinic acid synthase 1) (Delta-ALA synthase 1) (Delta-aminolevulinate synthase 1)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; 5-aminolevulinate synthase activity [GO:0003870]; identical protein binding [GO:0042802]; pyridoxal phosphate binding [GO:0030170]; heme biosynthetic process [GO:0006783]; mitochondrion organization [GO:0007005]; protoporphyrinogen IX biosynthetic process [GO:0006782]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13196-1; Sequence=Displayed; Name=2; IsoId=P13196-2; Sequence=VSP_025925, VSP_025924; Note=No experimental confirmation available.; 


uniprotID: Q2T9L4
geneSymbol: INSYN1
name: Inhibitory synaptic factor 1 (InSyn1)
length: 293
go: ENSG00000205363;
sequence:

opentargets:
cell junction [GO:0030054]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; inhibitory postsynaptic potential [GO:0060080]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q8CD60}.


uniprotID: Q6ZSG2
geneSymbol: INSYN2
name: Inhibitory synaptic factor 2A (InSyn2)
length: 479
go: ENSG00000188916;
snps: rs11594560
sequence:

opentargets:
cell junction [GO:0030054]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; inhibitory postsynaptic potential [GO:0060080]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZSG2-1; Sequence=Displayed; Name=2; IsoId=Q6ZSG2-2; Sequence=VSP_056622; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q3USH1}.


uniprotID: P13716
geneSymbol: ALAD
reactome: R-HSA-189451;R-HSA-6798695;
pdb: 1E51;1PV8;5HMS;5HNR;
name: Delta-aminolevulinic acid dehydratase (ALADH) (EC 4.2.1.24) (Porphobilinogen synthase)
length: 330
go: ENSG00000148218;
drug: DB02878;DB02260;DB04781;DB00855;DB02068;DB02239;DB02272;
snps: rs121912984 rs1800435 rs121912980 rs121912982 rs121912983 rs121912981
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; catalytic activity [GO:0003824]; identical protein binding [GO:0042802]; porphobilinogen synthase activity [GO:0004655]; proteasome core complex binding [GO:1904854]; zinc ion binding [GO:0008270]; cellular response to interleukin-4 [GO:0071353]; cellular response to lead ion [GO:0071284]; heme biosynthetic process [GO:0006783]; negative regulation of proteasomal protein catabolic process [GO:1901799]; neutrophil degranulation [GO:0043312]; protein homooligomerization [GO:0051260]; protoporphyrinogen IX biosynthetic process [GO:0006782]; response to activity [GO:0014823]; response to aluminum ion [GO:0010044]; response to amino acid [GO:0043200]; response to arsenic-containing substance [GO:0046685]; response to cadmium ion [GO:0046686]; response to cobalt ion [GO:0032025]; response to ethanol [GO:0045471]; response to fatty acid [GO:0070542]; response to glucocorticoid [GO:0051384]; response to herbicide [GO:0009635]; response to hypoxia [GO:0001666]; response to ionizing radiation [GO:0010212]; response to iron ion [GO:0010039]; response to lipopolysaccharide [GO:0032496]; response to mercury ion [GO:0046689]; response to methylmercury [GO:0051597]; response to oxidative stress [GO:0006979]; response to platinum ion [GO:0070541]; response to selenium ion [GO:0010269]; response to vitamin B1 [GO:0010266]; response to vitamin E [GO:0033197]; response to zinc ion [GO:0010043]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13716-1; Sequence=Displayed; Name=2; IsoId=P13716-2; Sequence=VSP_037866; 


uniprotID: Q96CB8
geneSymbol: INTS12
reactome: R-HSA-6807505;
name: Integrator complex subunit 12 (Int12) (PHD finger protein 22)
length: 462
go: ENSG00000138785;
snps: rs34567094
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23904267}.
sequence:

opentargets:
integrator complex [GO:0032039]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; snRNA processing [GO:0016180]; snRNA transcription by RNA polymerase II [GO:0042795]


uniprotID: Q6P9B9
geneSymbol: INTS5
reactome: R-HSA-6807505;
name: Integrator complex subunit 5 (Int5)
length: 1019
go: ENSG00000185085;
sequence:

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

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}. Nucleus {ECO:0000269|PubMed:23904267}. Cytoplasm {ECO:0000269|PubMed:23904267}.


uniprotID: Q9UL03
geneSymbol: INTS6
reactome: R-HSA-6807505;
name: Integrator complex subunit 6 (Int6) (DBI-1) (Protein DDX26) (Protein deleted in cancer 1) (DICE1)
length: 887
go: ENSG00000102786;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11939413, ECO:0000269|PubMed:23904267}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; integrator complex [GO:0032039]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transmembrane signaling receptor activity [GO:0004888]; snRNA 3'-end processing [GO:0034472]; snRNA processing [GO:0016180]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UL03-1; Sequence=Displayed; Name=2; IsoId=Q9UL03-2; Sequence=VSP_021457, VSP_021458; Note=No experimental confirmation available.; Name=3; IsoId=Q9UL03-3; Sequence=VSP_041356; 


uniprotID: Q9NVH2
geneSymbol: INTS7
reactome: R-HSA-6807505;
name: Integrator complex subunit 7 (Int7)
length: 962
go: ENSG00000143493;
snps: rs17851788
sequence:

opentargets:
chromosome [GO:0005694]; cytoplasm [GO:0005737]; integrator complex [GO:0032039]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cellular response to ionizing radiation [GO:0071479]; DNA damage checkpoint [GO:0000077]; snRNA 3'-end processing [GO:0034472]; snRNA processing [GO:0016180]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NVH2-1; Sequence=Displayed; Name=2; IsoId=Q9NVH2-2; Sequence=VSP_021463; Name=3; IsoId=Q9NVH2-3; Sequence=VSP_021464; Note=No experimental confirmation available.; Name=4; IsoId=Q9NVH2-4; Sequence=VSP_043201; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21659603}. Chromosome {ECO:0000269|PubMed:21659603}. Cytoplasm {ECO:0000269|PubMed:23904267}. Note=Localizes to sites of DNA damage in a H2AX-independent manner.


uniprotID: Q9NV88
geneSymbol: INTS9
reactome: R-HSA-6807505;
pdb: 5V8W;
name: Integrator complex subunit 9 (Int9) (Protein related to CPSF subunits of 74 kDa) (RC-74)
length: 658
go: ENSG00000104299;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15684398, ECO:0000269|PubMed:23904267}.
sequence:

opentargets:
cytosol [GO:0005829]; integrator complex [GO:0032039]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; snRNA processing [GO:0016180]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NV88-1; Sequence=Displayed; Name=2; IsoId=Q9NV88-2; Sequence=VSP_043011; Note=No experimental confirmation available.; Name=3; IsoId=Q9NV88-3; Sequence=VSP_044306; 


uniprotID: P07476
geneSymbol: IVL
reactome: R-HSA-6809371;
pdb: 1EU0;
name: Involucrin
length: 585
go: ENSG00000163207;
snps: rs2229496 rs11205133 rs12035307 rs11807064 rs17855670 rs7520711 rs11205137 rs7545520
location: SUBCELLULAR LOCATION: Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope.
sequence:

opentargets:
centrosome [GO:0005813]; cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nuclear body [GO:0016604]; protein binding, bridging [GO:0030674]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine [GO:0018153]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]; response to UV-B [GO:0010224]


uniprotID: Q9Y283
geneSymbol: INVS
name: Inversin (Inversion of embryo turning homolog) (Nephrocystin-2)
length: 1065
go: ENSG00000119509;
snps: rs2491097 rs121964995 rs1052867
sequence:

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; membrane [GO:0016020]; microtubule [GO:0005874]; nucleus [GO:0005634]; spindle [GO:0005819]; calmodulin binding [GO:0005516]; multicellular organism development [GO:0007275]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y283-1; Sequence=Displayed; Name=2; Synonyms=S2; IsoId=Q9Y283-2; Sequence=VSP_014497; Name=3; IsoId=Q9Y283-3; Sequence=VSP_014495, VSP_014496; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cytoskeleton, spindle {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Nucleus {ECO:0000250}. Cell projection, cilium {ECO:0000269|PubMed:12872123}. Note=Associates with several components of the cytoskeleton including ciliary, random and polarized microtubules. During mitosis, it is recruited to mitotic spindle. Frequently membrane-associated, membrane localization is dependent upon cell-cell contacts and is redistributed when cell adhesion is disrupted after incubation of the cell monolayer with low-calcium/EGTA medium.


uniprotID: Q92813
geneSymbol: DIO2
reactome: R-HSA-350864;
name: Type II iodothyronine deiodinase (EC 1.21.99.4) (5DII) (DIOII) (Type 2 DI) (Type-II 5'-deiodinase)
length: 273
go: ENSG00000211448;
snps: rs2839859 rs225014
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; selenium binding [GO:0008430]; thyroxine 5'-deiodinase activity [GO:0004800]; ubiquitin protein ligase binding [GO:0031625]; hormone biosynthetic process [GO:0042446]; positive regulation of cold-induced thermogenesis [GO:0120162]; selenocysteine incorporation [GO:0001514]; thyroid hormone generation [GO:0006590]; thyroid hormone metabolic process [GO:0042403]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=hDII-a; IsoId=Q92813-1; Sequence=Displayed; Name=2; Synonyms=hDII-b; IsoId=Q92813-2; Sequence=VSP_026154; Note=Has a Sec in positions 169 and 302.; 


uniprotID: P27469
geneSymbol: G0S2
reactome: R-HSA-1989781;
name: G0/G1 switch protein 2 (G0/G1 switch regulatory protein 2) (Putative lymphocyte G0/G1 switch gene)
length: 103
go: ENSG00000123689;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19706769}.
sequence:
METVQELIPLAKEMMAQKRKGKMVKLYVLGSVLALFGVVLGLMETVCSPFTAARRLRDQEAAVAELQAALERQALQKQALQEKGKQQDTVLGGRALSNRQHAS

opentargets:
lipid droplet [GO:0005811]; mitochondrion [GO:0005739]; extrinsic apoptotic signaling pathway [GO:0097191]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; regulation of lipid metabolic process [GO:0019216]


uniprotID: P55107
geneSymbol: GDF10
length: 478
go: ENSG00000266524;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:P97737}.
name:
Growth/differentiation factor 10 (GDF-10) (Bone morphogenetic protein 3B) (BMP-3B) (Bone-inducing protein) (BIP)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160]; cell development [GO:0048468]; fat cell differentiation [GO:0045444]; negative regulation of osteoblast differentiation [GO:0045668]; osteoblast differentiation [GO:0001649]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; skeletal system development [GO:0001501]; SMAD protein signal transduction [GO:0060395]; transforming growth factor beta receptor signaling pathway [GO:0007179]


uniprotID: Q9P109
geneSymbol: GCNT4
reactome: R-HSA-913709;
length: 453
go: ENSG00000176928;
snps: rs4704166 rs4704166 rs3811987
name:
Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 (EC 2.4.1.102) (Core 2-branching enzyme 3) (Core2-GlcNAc-transferase 3) (C2GnT3)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity [GO:0003829]; N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity [GO:0008109]; carbohydrate metabolic process [GO:0005975]; homeostasis of number of cells [GO:0048872]; inter-male aggressive behavior [GO:0002121]; kidney morphogenesis [GO:0060993]; O-glycan processing [GO:0016266]; protein O-linked glycosylation [GO:0006493]; thyroid hormone metabolic process [GO:0042403]; tissue morphogenesis [GO:0048729]


uniprotID: Q6W3E5
geneSymbol: GDPD4
length: 623
go: ENSG00000178795;
snps: rs2729772 rs11237146 rs11237145
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Glycerophosphodiester phosphodiesterase domain-containing protein 4 (EC 3.1.-.-) (Glycerophosphodiester phosphodiesterase 6) (UgpQ)

sequence:

opentargets:
integral component of membrane [GO:0016021]; glycerophosphodiester phosphodiesterase activity [GO:0008889]; metal ion binding [GO:0046872]; lipid metabolic process [GO:0006629]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6W3E5-1; Sequence=Displayed; Name=2; IsoId=Q6W3E5-2; Sequence=VSP_020811, VSP_020812; 


uniprotID: Q9NZ52
geneSymbol: GGA3
reactome: R-HSA-8854214;R-HSA-8875656;R-HSA-977225;
pdb: 1JPL;1JUQ;1LF8;1P4U;1WR6;1YD8;
length: 723
go: ENSG00000125447;
snps: rs117805695 rs146877619 rs776324450
name:
ADP-ribosylation factor-binding protein GGA3 (Golgi-localized, gamma ear-containing, ARF-binding protein 3)

sequence:

opentargets:
clathrin adaptor complex [GO:0030131]; early endosome membrane [GO:0031901]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; recycling endosome membrane [GO:0055038]; trans-Golgi network [GO:0005802]; ADP-ribosylation factor binding [GO:0030306]; cellular protein metabolic process [GO:0044267]; intracellular protein transport [GO:0006886]; positive regulation of protein catabolic process [GO:0045732]; protein localization to lysosome [GO:0061462]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Long; IsoId=Q9NZ52-1; Sequence=Displayed; Name=Short; IsoId=Q9NZ52-2; Sequence=VSP_001745; Name=3; IsoId=Q9NZ52-3; Sequence=VSP_045133, VSP_045134; Name=4; IsoId=Q9NZ52-4; Sequence=VSP_046868; Note=No experimental confirmation available.; 

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: A0A0B4J1V2
geneSymbol: IGHV2-26
name: Immunoglobulin heavy variable 2-26
length: 119
go: ENSG00000211951;
sequence:
MDTLCYTLLLLTTPSWVLSQVTLKESGPVLVKPTETLTLTCTVSGFSLSNARMGVSWIRQPPGKALEWLAHIFSNDEKSYSTSLKSRLTISKDTSKSQVVLTMTNMDPVDTATYYCARI


uniprotID: Q96MS3
geneSymbol: GLT1D1
name: Glycosyltransferase 1 domain-containing protein 1 (EC 2.4.-.-)
length: 346
go: ENSG00000151948;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; transferase activity, transferring glycosyl groups [GO:0016757]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96MS3-1; Sequence=Displayed; Name=2; IsoId=Q96MS3-2; Sequence=VSP_029731; Name=3; IsoId=Q96MS3-3; Sequence=VSP_029732, VSP_029733; 


uniprotID: Q8IW92
geneSymbol: GLB1L2
name: Beta-galactosidase-1-like protein 2 (EC 3.2.1.-)
length: 636
go: ENSG00000149328;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; vacuole [GO:0005773]; beta-galactosidase activity [GO:0004565]; carbohydrate metabolic process [GO:0005975]


uniprotID: Q9NXP7
geneSymbol: GIN1
length: 522
go: ENSG00000145723;
opentargets: nucleic acid binding [GO:0003676]; DNA integration [GO:0015074]
snps: rs17851289 rs34813
name:
Gypsy retrotransposon integrase-like protein 1 (GIN-1) (Ty3/Gypsy integrase 1) (Zinc finger H2C2 domain-containing protein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NXP7-1; Sequence=Displayed; Name=2; IsoId=Q9NXP7-2; Sequence=VSP_038518, VSP_038519; 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=3; IsoId=Q9NXP7-3; Sequence=VSP_033438, VSP_033439; 


uniprotID: H0YKK7
geneSymbol: GOLGA6L19
name: Putative golgin subfamily A member 6-like protein 19
length: 550
opentargets: Golgi apparatus [GO:0005794]
sequence:


uniprotID: A0A075B6Q5
geneSymbol: IGHV3-64
name: Immunoglobulin heavy variable 3-64
length: 118
go: ENSG00000223648;
sequence:
MMEFGLSWVFLVAIFKGVQCEVQLVESGEGLVQPGGSLRLSCAASGFTFSSYAMHWVRQAPGKGLEYVSAISSNGGSTYYADSVKGRFTISRDNSKNTLYLQMGSLRAEDMAVYYCAR


uniprotID: Q6UWU2
geneSymbol: GLB1L
reactome: R-HSA-1660662;R-HSA-2022857;R-HSA-2024096;
name: Beta-galactosidase-1-like protein (EC 3.2.1.-)
length: 654
go: ENSG00000163521;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; vacuole [GO:0005773]; beta-galactosidase activity [GO:0004565]; carbohydrate metabolic process [GO:0005975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWU2-1; Sequence=Displayed; Name=2; IsoId=Q6UWU2-2; Sequence=VSP_030059; 


uniprotID: Q8IVS8
geneSymbol: GLYCTK
reactome: R-HSA-70350;
name: Glycerate kinase (EC 2.7.1.31) (HBeAg-binding protein 4)
length: 523
go: ENSG00000168237;
snps: rs34502608 rs35130772 rs9813489 rs121909448
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; glycerate kinase activity [GO:0008887]; fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate [GO:0061624]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=Glycerate kinase 1 {ECO:0000303|PubMed:16753811}, GLYCTK1 {ECO:0000303|PubMed:16753811}; IsoId=Q8IVS8-1; Sequence=Displayed; Name=2; Synonyms=Glycerate kinase 2 {ECO:0000303|PubMed:16753811}, GLYCTK2 {ECO:0000303|PubMed:16753811}; IsoId=Q8IVS8-2; Sequence=VSP_025360, VSP_025362; Name=3; IsoId=Q8IVS8-3; Sequence=VSP_025358; Name=4; IsoId=Q8IVS8-4; Sequence=VSP_025363, VSP_025365; Name=5; IsoId=Q8IVS8-5; Sequence=VSP_025357, VSP_025364, VSP_025365; Name=6; IsoId=Q8IVS8-6; Sequence=VSP_025356; Name=7; IsoId=Q8IVS8-7; Sequence=VSP_025359, VSP_025361; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:16753811}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Mitochondrion {ECO:0000269|PubMed:16753811}.


uniprotID: P0DP04
geneSymbol: IGHV3-43D
name: Immunoglobulin heavy variable 3-43D
length: 118
sequence:
MEFGLSWVFLVAILKGVQCEVQLVESGGVVVQPGGSLRLSCAASGFTFDDYAMHWVRQAPGKGLEWVSLISWDGGSTYYADSVKGRFTISRDNSKNSLYLQMNSLRAEDTALYYCAKD


uniprotID: A0A0J9YVY3
geneSymbol: IGHV7-4-1
name: Immunoglobulin heavy variable 7-4-1
length: 117
sequence:
MDWTWRILFLVAAATGAHSQVQLVQSGSELKKPGASVKVSCKASGYTFTSYAMNWVRQAPGQGLEWMGWINTNTGNPTYAQGFTGRFVFSLDTSVSTAYLQICSLKAEDTAVYYCAR


uniprotID: O60573
geneSymbol: EIF4E2
reactome: R-HSA-1169408;
pdb: 2JGB;2JGC;5NVK;5NVL;5NVM;5NVN;
length: 245
go: ENSG00000135930;
name:
Eukaryotic translation initiation factor 4E type 2 (eIF-4E type 2) (eIF4E type 2) (Eukaryotic translation initiation factor 4E homologous protein) (Eukaryotic translation initiation factor 4E-like 3) (eIF4E-like protein 4E-LP) (mRNA cap-binding protein 4EHP) (h4EHP) (mRNA cap-binding protein type 3)

sequence:

opentargets:
cytosol [GO:0005829]; mRNA cap binding complex [GO:0005845]; RNA binding [GO:0003723]; RNA cap binding [GO:0000339]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; ubiquitin protein ligase binding [GO:0031625]; in utero embryonic development [GO:0001701]; negative regulation of translation [GO:0017148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60573-1; Sequence=Displayed; Name=2; IsoId=O60573-2; Sequence=VSP_054783, VSP_054784; Note=No experimental confirmation available.; 


uniprotID: Q8N5X7
geneSymbol: EIF4E3
reactome: R-HSA-1169408;
length: 224
go: ENSG00000163412;
name:
Eukaryotic translation initiation factor 4E type 3 (eIF-4E type 3) (eIF-4E3) (eIF4E type 3) (eIF4E-3)

sequence:

opentargets:
cytosol [GO:0005829]; mRNA cap binding complex [GO:0005845]; translation initiation factor activity [GO:0003743]; regulation of translation [GO:0006417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N5X7-1; Sequence=Displayed; Name=2; IsoId=Q8N5X7-2; Sequence=VSP_025602; 


uniprotID: Q6IS14
geneSymbol: EIF5AL1
length: 154
go: ENSG00000253626;
name:
Eukaryotic translation initiation factor 5A-1-like (eIF-5A-1-like) (eIF-5A1-like) (Eukaryotic initiation factor 5A isoform 1-like)

sequence:
MADDLDFETGDAGASATFPMQCSALRKNGFVVLKGWPCKIVEMSASKTGKHGHAKVHLVGIDIFTGKKYEDICPSTHNMDVPNIKRNDFQLIGIQDGYLSLLQDSGEVPEDLRLPEGDLGKEIEQKYDCGEEILITVLSAMTEEAAVAIKAMAK

opentargets:
endoplasmic reticulum membrane [GO:0005789]; nuclear pore [GO:0005643]; ribosome binding [GO:0043022]; translation elongation factor activity [GO:0003746]; mRNA transport [GO:0051028]; positive regulation of translational elongation [GO:0045901]; positive regulation of translational termination [GO:0045905]; protein transport [GO:0015031]; translational frameshifting [GO:0006452]

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


uniprotID: Q13304
geneSymbol: GPR17
reactome: R-HSA-391906;R-HSA-416476;R-HSA-417957;R-HSA-418594;
length: 367
go: ENSG00000144230;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Uracil nucleotide/cysteinyl leukotriene receptor (UDP/CysLT receptor) (G-protein coupled receptor 17) (P2Y-like receptor) (R12)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; chemokine receptor activity [GO:0004950]; G protein-coupled receptor activity [GO:0004930]; receptor serine/threonine kinase binding [GO:0033612]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of inflammatory response to antigenic stimulus [GO:0002862]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of Rho protein signal transduction [GO:0035025]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13304-1; Sequence=Displayed; Name=2; IsoId=Q13304-2; Sequence=VSP_001987; 


uniprotID: Q9HCN4
geneSymbol: GPN1
length: 374
go: ENSG00000198522;
name:
GPN-loop GTPase 1 (EC 3.6.5.-) (MBD2-interacting protein) (MBDin) (RNAPII-associated protein 4) (XPA-binding protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9HCN4-1; Sequence=Displayed; Name=2; IsoId=Q9HCN4-2; Sequence=VSP_042750; Note=No experimental confirmation available.; Name=3; IsoId=Q9HCN4-3; Sequence=VSP_042749; Note=No experimental confirmation available.; Name=4; IsoId=Q9HCN4-4; Sequence=VSP_046176; Note=No experimental confirmation available.; Name=5; IsoId=Q9HCN4-5; Sequence=VSP_054366; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11058119, ECO:0000269|PubMed:20855544}. Nucleus {ECO:0000269|PubMed:20855544}. Note=Shuttles between the nucleus and the cytoplasm. {ECO:0000269|PubMed:20855544}.


uniprotID: P13164
geneSymbol: IFITM1
reactome: R-HSA-198933;R-HSA-909733;
length: 125
go: ENSG00000185885;
snps: rs9667990
name:
Interferon-induced transmembrane protein 1 (Dispanin subfamily A member 2a) (DSPA2a) (Interferon-induced protein 17) (Interferon-inducible protein 9-27) (Leu-13 antigen) (CD antigen CD225)

sequence:
MHKEEHEVAVLGPPPSTILPRSTVINIHSETSVPDHVVWSLFNTLFLNWCCLGFIAFAYSVKSRDRKMVGDVTGAQAYASTAKCLNIWALILGILMTIGFILLLVFGSVTVYHIMLQIIQEKRGY

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; cell surface receptor signaling pathway [GO:0007166]; defense response to virus [GO:0051607]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of viral entry into host cell [GO:0046597]; negative regulation of viral genome replication [GO:0045071]; ossification [GO:0001503]; positive regulation of osteoblast differentiation [GO:0045669]; regulation of immune response [GO:0050776]; response to interferon-alpha [GO:0035455]; response to interferon-beta [GO:0035456]; response to interferon-gamma [GO:0034341]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19499152, ECO:0000269|PubMed:25105503}; Single-pass membrane protein {ECO:0000269|PubMed:19499152}.


uniprotID: Q13227
geneSymbol: GPS2
reactome: R-HSA-1989781;R-HSA-3214815;
pdb: 2L5G;
name: G protein pathway suppressor 2 (GPS-2)
length: 327
go: ENSG00000132522;
snps: rs2292065
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; cyclin binding [GO:0030332]; GTPase inhibitor activity [GO:0005095]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; B cell differentiation [GO:0030183]; inactivation of MAPK activity [GO:0000188]; JNK cascade [GO:0007254]; negative regulation of B cell receptor signaling pathway [GO:0050859]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of inflammatory response [GO:0050728]; negative regulation of JNK cascade [GO:0046329]; negative regulation of protein K63-linked ubiquitination [GO:1900045]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035360]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of fat cell differentiation [GO:0045598]; regulation of lipid metabolic process [GO:0019216]; response to mitochondrial depolarisation [GO:0098780]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13227-1; Sequence=Displayed; Name=2; IsoId=Q13227-2; Sequence=VSP_057012; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19858209, ECO:0000269|PubMed:24943844, ECO:0000269|PubMed:29499132}. Mitochondrion {ECO:0000269|PubMed:29499132}. Cytoplasm, cytosol {ECO:0000269|PubMed:24223774, ECO:0000269|PubMed:24943844, ECO:0000269|PubMed:29499132}. Note=Sumoylation regulates the subcellular location (PubMed:24943844). Relocates from the mitochondria to the nucleus following desumoylation, leading to mediate mitochondrial stress response (By similarity). {ECO:0000250|UniProtKB:Q921N8, ECO:0000269|PubMed:24943844}.


uniprotID: Q9BY21
geneSymbol: GPR87
name: G-protein coupled receptor 87 (G-protein coupled receptor 95)
length: 358
go: ENSG00000138271;
snps: rs35521104
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of adenylate cyclase activity [GO:0007194]


uniprotID: P05015
geneSymbol: IFNA16
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
name: Interferon alpha-16 (IFN-alpha-16) (Interferon alpha-WA)
length: 189
go: ENSG00000147885;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MALSFSLLMAVLVLSYKSICSLGCDLPQTHSLGNRRALILLAQMGRISHFSCLKDRYDFGFPQEVFDGNQFQKAQAISAFHEMIQQTFNLFSTKDSSAAWDETLLDKFYIELFQQLNDLEACVTQEVGVEEIALMNEDSILAVRKYFQRITLYLMGKKYSPCAWEVVRAEIMRSFSFSTNLQKGLRRKD


uniprotID: Q8N954
geneSymbol: GPATCH11
name: G patch domain-containing protein 11 (Coiled-coil domain-containing protein 75)
length: 285
go: ENSG00000152133;
location: SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}.
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; kinetochore [GO:0000776]; nucleic acid binding [GO:0003676]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N954-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2; IsoId=Q8N954-2; Sequence=VSP_023505, VSP_023506; 


uniprotID: P01563
geneSymbol: IFNA2
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
pdb: 1ITF;1RH2;2HIE;2HYM;2KZ1;2LAG;2LMS;3S9D;3SE3;4YPG;4Z5R;
name: Interferon alpha-2 (IFN-alpha-2) (Interferon alpha-A) (LeIF A)
length: 188
snps: rs35971916 rs1061959
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MALTFALLVALLVLSCKSSCSVGCDLPQTHSLGSRRTLMLLAQMRKISLFSCLKDRHDFGFPQEEFGNQFQKAETIPVLHEMIQQIFNLFSTKDSSAAWDETLLDKFYTELYQQLNDLEACVIQGVGVTETPLMKEDSILAVRKYFQRITLYLKEKKYSPCAWEVVRAEIMRSFSLSTNLQESLRSKE

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; type I interferon receptor binding [GO:0005132]; adaptive immune response [GO:0002250]; apoptotic process [GO:0006915]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; blood coagulation [GO:0007596]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; humoral immune response [GO:0006959]; inflammatory response [GO:0006954]; natural killer cell activation involved in immune response [GO:0002323]; negative regulation of gene expression [GO:0010629]; negative regulation of interleukin-13 secretion [GO:2000666]; negative regulation of interleukin-5 secretion [GO:2000663]; negative regulation of T cell differentiation [GO:0045581]; negative regulation of T-helper 2 cell cytokine production [GO:2000552]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of viral entry into host cell [GO:0046597]; positive regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033141]; positive regulation of phosphorylation [GO:0042327]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; response to exogenous dsRNA [GO:0043330]; T cell activation involved in immune response [GO:0002286]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9NWQ4
geneSymbol: GPATCH2L
name: G patch domain-containing protein 2-like
length: 482
go: ENSG00000089916;
snps: rs17104086
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NWQ4-3; Sequence=Displayed; Name=2; IsoId=Q9NWQ4-1; Sequence=VSP_014714, VSP_014716; Name=4; IsoId=Q9NWQ4-4; Sequence=VSP_039861; 


uniprotID: P05014
geneSymbol: IFNA4
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
name: Interferon alpha-4 (IFN-alpha-4) (Interferon alpha-4B) (Interferon alpha-76) (Interferon alpha-M1)
length: 189
go: ENSG00000236637;
snps: rs201964250 rs1062571 rs3750480
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MALSFSLLMAVLVLSYKSICSLGCDLPQTHSLGNRRALILLAQMGRISHFSCLKDRHDFGFPEEEFDGHQFQKAQAISVLHEMIQQTFNLFSTEDSSAAWEQSLLEKFSTELYQQLNDLEACVIQEVGVEETPLMNEDSILAVRKYFQRITLYLTEKKYSPCAWEVVRAEIMRSLSFSTNLQKRLRRKD

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


uniprotID: Q9BRR8
geneSymbol: GPATCH1
name: G patch domain-containing protein 1 (Evolutionarily conserved G-patch domain-containing protein)
length: 931
go: ENSG00000076650;
snps: rs2287679 rs16967805 rs35389599 rs10416265 rs10421769 rs16967824
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nucleus [GO:0005634]; nucleic acid binding [GO:0003676]; mRNA splicing, via spliceosome [GO:0000398]


uniprotID: O75715
geneSymbol: GPX5
reactome: R-HSA-3299685;
pdb: 2I3Y;
length: 221
go: ENSG00000224586;
drug: DB00143;
snps: rs58554303 rs769188
location: SUBCELLULAR LOCATION: Secreted.
name:
Epididymal secretory glutathione peroxidase (EC 1.11.1.9) (Epididymis-specific glutathione peroxidase-like protein) (EGLP) (Glutathione peroxidase 5) (GPx-5) (GSHPx-5)

sequence:

opentargets:
extracellular region [GO:0005576]; glutathione peroxidase activity [GO:0004602]; cellular response to oxidative stress [GO:0034599]; lipid metabolic process [GO:0006629]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75715-1; Sequence=Displayed; Name=2; IsoId=O75715-2; Sequence=VSP_043046; Note=No experimental confirmation available.; 


uniprotID: P22352
geneSymbol: GPX3
reactome: R-HSA-3299685;
pdb: 2R37;
length: 226
go: ENSG00000211445;
drug: DB00143;
snps: rs8177445
location: SUBCELLULAR LOCATION: Secreted.
name:
Glutathione peroxidase 3 (GPx-3) (GSHPx-3) (EC 1.11.1.9) (Extracellular glutathione peroxidase) (Plasma glutathione peroxidase) (GPx-P) (GSHPx-P)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; glutathione peroxidase activity [GO:0004602]; selenium binding [GO:0008430]; transcription factor binding [GO:0008134]; cellular response to oxidative stress [GO:0034599]; hydrogen peroxide catabolic process [GO:0042744]; protein homotetramerization [GO:0051289]; response to lipid hydroperoxide [GO:0006982]


uniprotID: Q14451
geneSymbol: GRB7
reactome: R-HSA-1306955;R-HSA-1433557;R-HSA-186763;R-HSA-210993;R-HSA-8853659;
pdb: 1MW4;1WGR;2L4K;2QMS;3PQZ;4WWQ;4X6S;5D0J;5EEL;5EEQ;5TYI;5U06;5U1Q;
length: 532
go: ENSG00000141738;
name:
Growth factor receptor-bound protein 7 (B47) (Epidermal growth factor receptor GRB-7) (GRB7 adapter protein)

sequence:

opentargets:
cell projection [GO:0042995]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; phosphatidylinositol binding [GO:0035091]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; SH3/SH2 adaptor activity [GO:0005070]; axon guidance [GO:0007411]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; leukocyte migration [GO:0050900]; negative regulation of translation [GO:0017148]; positive regulation of cell migration [GO:0030335]; stress granule assembly [GO:0034063]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=At least 2 isoforms are produced.; Name=1; IsoId=Q14451-1; Sequence=Displayed; Name=2; Synonyms=Grb7V; IsoId=Q14451-2; Sequence=VSP_035500, VSP_035501; Name=3; IsoId=Q14451-3; Sequence=VSP_041665; Name=4; IsoId=Q14451-4; Sequence=VSP_041666; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10893408, ECO:0000269|PubMed:12021278, ECO:0000269|PubMed:18853468}. Cell junction, focal adhesion {ECO:0000269|PubMed:10893408, ECO:0000269|PubMed:12021278}. Cell membrane; Peripheral membrane protein; Cytoplasmic side {ECO:0000269|PubMed:10893408, ECO:0000269|PubMed:12021278, ECO:0000269|PubMed:18853468}. Cytoplasmic granule {ECO:0000250|UniProtKB:Q03160}. Cell projection {ECO:0000269|PubMed:18853468}. Note=Predominantly cytoplasmic. Detected in stress granules, where mRNA is stored under stress conditions. {ECO:0000250|UniProtKB:Q03160}.


uniprotID: P28676
geneSymbol: GCA
reactome: R-HSA-6798695;
pdb: 1F4O;1F4Q;1K94;1K95;
name: Grancalcin
length: 217
go: ENSG00000115271;
snps: rs17783344
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; membrane fusion [GO:0061025]; neutrophil degranulation [GO:0043312]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:1530588, ECO:0000269|PubMed:1737748}. Cytoplasmic granule membrane {ECO:0000269|PubMed:1737748, ECO:0000305|PubMed:1530588}; Peripheral membrane protein; Cytoplasmic side. Note=Primarily cytosolic in the absence of calcium or magnesium ions. Relocates to granules and other membranes in response to elevated calcium and magnesium levels. {ECO:0000269|PubMed:1737748}.


uniprotID: A8MXD5
geneSymbol: GRXCR1
name: Glutaredoxin domain-containing cysteine-rich protein 1
length: 290
go: ENSG00000215203;
snps: rs78136490 rs367784906 rs727505186 rs370551174 rs113203706 rs267606856 rs770874273
sequence:

opentargets:
kinocilium [GO:0060091]; microvillus [GO:0005902]; stereocilium [GO:0032420]; electron transfer activity [GO:0009055]; protein disulfide oxidoreductase activity [GO:0015035]; cell redox homeostasis [GO:0045454]; inner ear receptor cell development [GO:0060119]; inner ear receptor cell stereocilium organization [GO:0060122]; negative regulation of phosphatase activity [GO:0010923]; sensory perception of sound [GO:0007605]; vestibular receptor cell development [GO:0060118]

location:
SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000250}. Cell projection, microvillus {ECO:0000250}. Cell projection, kinocilium {ECO:0000250}. Note=In the inner ear, localized to stereocilia, apical microvilli of sensory cells and kinocilia. {ECO:0000250}.


uniprotID: P10412
geneSymbol: HIST1H1E
reactome: R-HSA-211227;R-HSA-2559584;
pdb: 3TZD;5JJZ;6H8P;
name: Histone H1.4 (Histone H1b) (Histone H1s-4)
length: 219
go: ENSG00000168298;
snps: rs768731472 rs2298090
sequence:

opentargets:
nuclear heterochromatin [GO:0005720]; nuclear nucleosome [GO:0000788]; nucleus [GO:0005634]; ADP binding [GO:0043531]; AMP binding [GO:0016208]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; chromatin DNA binding [GO:0031490]; dATP binding [GO:0032564]; double-stranded DNA binding [GO:0003690]; GTP binding [GO:0005525]; nucleosomal DNA binding [GO:0031492]; RNA binding [GO:0003723]; chromosome condensation [GO:0030261]; histone H3-K27 trimethylation [GO:0098532]; histone H3-K4 trimethylation [GO:0080182]; negative regulation of chromatin silencing [GO:0031936]; negative regulation of DNA recombination [GO:0045910]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nucleosome assembly [GO:0006334]; nucleosome positioning [GO:0016584]; regulation of transcription, DNA-templated [GO:0006355]

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Mainly localizes in heterochromatin. Dysplays a punctuate staining pattern in the nucleus.


uniprotID: P22492
geneSymbol: HIST1H1T
name: Histone H1t (Testicular H1 histone)
length: 207
go: ENSG00000187475;
snps: rs198844 rs2051542 rs198845
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Chromosome {ECO:0000305}.
sequence:

opentargets:
condensed nuclear chromosome [GO:0000794]; nucleosome [GO:0000786]; nucleus [GO:0005634]; double-stranded DNA binding [GO:0003690]; nucleosomal DNA binding [GO:0031492]; binding of sperm to zona pellucida [GO:0007339]; cell differentiation [GO:0030154]; chromosome condensation [GO:0030261]; flagellated sperm motility [GO:0030317]; multicellular organism development [GO:0007275]; negative regulation of chromatin silencing [GO:0031936]; negative regulation of DNA recombination [GO:0045910]; nucleosome assembly [GO:0006334]; nucleosome positioning [GO:0016584]; regulation of transcription, DNA-templated [GO:0006355]; spermatogenesis [GO:0007283]


uniprotID: Q96QV6
geneSymbol: HIST1H2AA
reactome: R-HSA-3214815;R-HSA-3214847;R-HSA-3214858;R-HSA-5689603;R-HSA-5689880;R-HSA-5689901;
pdb: 5GSU;5GT0;
name: Histone H2A type 1-A (Histone H2A/r)
length: 131
go: ENSG00000164508;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MSGRGKQGGKARAKSKSRSSRAGLQFPVGRIHRLLRKGNYAERIGAGAPVYLAAVLEYLTAEILELAGNASRDNKKTRIIPRHLQLAIRNDEELNKLLGGVTIAQGGVLPNIQAVLLPKKTESHHHKAQSK

opentargets:
extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nuclear chromosome, telomeric region [GO:0000784]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]


uniprotID: P04908
geneSymbol: HIST1H2AB; HIST1H2AE
name: Histone H2A type 1-B/E (Histone H2A.2) (Histone H2A/a) (Histone H2A/m)
length: 130
go: ENSG00000277075;ENSG00000278463;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
pdb:
2CV5;2RVQ;3A6N;3AFA;3AN2;3AV1;3AV2;3AYW;3AZE;3AZF;3AZG;3AZH;3AZI;3AZJ;3AZK;3AZL;3AZM;3AZN;3W96;3W97;3W98;3W99;3WKJ;3WTP;3X1S;3X1V;4YM5;4YM6;4Z5T;5AV5;5AV6;5AV8;5AV9;5AVB;5AVC;5AY8;5B0Y;5B0Z;5B24;5B2I;5B2J;5B31;5B32;5B40;5CPI;5CPJ;5CPK;5GSE;5GTC;5GXQ;5JRG;5X7X;5XF3;5XF4;5XF5;5Y0C;5Y0D;6BUZ;6ETX;

sequence:
MSGRGKQGGKARAKAKTRSSRAGLQFPVGRVHRLLRKGNYSERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGRVTIAQGGVLPNIQAVLLPKKTESHHKAKGK

opentargets:
extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]; negative regulation of cell proliferation [GO:0008285]


uniprotID: Q93077
geneSymbol: HIST1H2AC
pdb: 6C0W;
name: Histone H2A type 1-C (Histone H2A/l)
length: 130
go: ENSG00000180573;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MSGRGKQGGKARAKAKSRSSRAGLQFPVGRVHRLLRKGNYAERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGRVTIAQGGVLPNIQAVLLPKKTESHHKAKGK

opentargets:
extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]; negative regulation of cell proliferation [GO:0008285]


uniprotID: P20671
geneSymbol: HIST1H2AD
pdb: 5GT3;
name: Histone H2A type 1-D (Histone H2A.3) (Histone H2A/g)
length: 130
go: ENSG00000196866;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MSGRGKQGGKARAKAKTRSSRAGLQFPVGRVHRLLRKGNYSERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGKVTIAQGGVLPNIQAVLLPKKTESHHKAKGK


uniprotID: Q8IUE6
geneSymbol: HIST2H2AB
reactome: R-HSA-3214815;R-HSA-3214847;R-HSA-3214858;R-HSA-5689603;R-HSA-5689880;R-HSA-5689901;
name: Histone H2A type 2-B
length: 130
go: ENSG00000184270;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MSGRGKQGGKARAKAKSRSSRAGLQFPVGRVHRLLRKGNYAERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAVRNDEELNKLLGGVTIAQGGVLPNIQAVLLPKKTESHKPGKNK


uniprotID: Q9P0M6
geneSymbol: H2AFY2
pdb: 2XD7;6FY5;
name: Core histone macro-H2A.2 (Histone macroH2A2) (mH2A2)
length: 372
go: ENSG00000099284;
sequence:

opentargets:
Barr body [GO:0001740]; extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription regulatory region DNA binding [GO:0044212]; brain development [GO:0007420]; chromatin organization [GO:0006325]; dosage compensation [GO:0007549]; establishment of protein localization to chromatin [GO:0071169]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901837]; nucleosome assembly [GO:0006334]; positive regulation of keratinocyte differentiation [GO:0045618]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11262398, ECO:0000269|PubMed:11331621, ECO:0000269|PubMed:15621527}. Chromosome {ECO:0000269|PubMed:11262398, ECO:0000269|PubMed:11331621, ECO:0000269|PubMed:15621527}. Note=Enriched in inactive X chromosome chromatin (PubMed:11331621, PubMed:11262398) and in senescence-associated heterochromatin (PubMed:15621527). {ECO:0000269|PubMed:11262398, ECO:0000269|PubMed:11331621, ECO:0000269|PubMed:15621527}.


uniprotID: P62807
geneSymbol: HIST1H2BC; HIST1H2BE; HIST1H2BF; HIST1H2BG; HIST1H2BI
pdb: 5GT0;5KGF;6C0W;6FML;
length: 126
go: ENSG00000180596;ENSG00000273802;ENSG00000274290;ENSG00000277224;ENSG00000278588;
snps: rs7766641
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
name:
Histone H2B type 1-C/E/F/G/I (Histone H2B.1 A) (Histone H2B.a) (H2B/a) (Histone H2B.g) (H2B/g) (Histone H2B.h) (H2B/h) (Histone H2B.k) (H2B/k) (Histone H2B.l) (H2B/l)

sequence:
MPEPAKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response in mucosa [GO:0002227]; nucleosome assembly [GO:0006334]; protein ubiquitination [GO:0016567]


uniprotID: Q8N257
geneSymbol: HIST3H2BB
pdb: 6BIZ;
name: Histone H2B type 3-B (H2B type 12)
length: 126
go: ENSG00000196890;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214815;R-HSA-3214847;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-5689880;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-606279;R-HSA-69473;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MPDPSKSAPAPKKGSKKAVTKAQKKDGKKRKRGRKESYSIYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIASEASRLAHYNKRSTITSREVQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; nucleosome assembly [GO:0006334]


uniprotID: P0C1H6
geneSymbol: H2BFM
name: Histone H2B type F-M (Histone H2B.s) (H2B/s)
length: 154
go: ENSG00000101812;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MAAASAMAEASSETTSEEGQSIQEPKEANSTKAQKQKRRGCRGSRRRHANRRGDSFGDSFTPYFPRVLKQVHQGLSLSQEAVSVMDSMIHDILDRIATEAGQLAHYTKRVTITSRDIQMAVRLLLPGKMGKLAEAQGTNAALRTSLCAIWQQRK


uniprotID: Q96MM7
geneSymbol: HS6ST2
reactome: R-HSA-2022928;
name: Heparan-sulfate 6-O-sulfotransferase 2 (HS6ST-2) (EC 2.8.2.-)
length: 605
go: ENSG00000171004;
snps: rs7053397
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; heparan sulfate 6-O-sulfotransferase activity [GO:0017095]; glycosaminoglycan biosynthetic process [GO:0006024]; heparan sulfate proteoglycan biosynthetic process, enzymatic modification [GO:0015015]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96MM7-1; Sequence=Displayed; Name=2; Synonyms=HS6ST-2S; IsoId=Q96MM7-2; Sequence=VSP_015846; Name=3; Synonyms=HS6ST-2; IsoId=Q96MM7-3; Sequence=VSP_015846, VSP_015847; Note=No experimental confirmation available.; Name=4; IsoId=Q96MM7-4; Sequence=VSP_015847; Note=Gene prediction based on EST data.; 


uniprotID: Q14520
geneSymbol: HABP2
length: 560
go: ENSG00000148702;
drug: DB08818;
snps: rs11575750 rs11575688 rs7080536
name:
Hyaluronan-binding protein 2 (EC 3.4.21.-) (Factor VII-activating protease) (Factor seven-activating protease) (FSAP) (Hepatocyte growth factor activator-like protein) (Plasma hyaluronan-binding protein) [Cleaved into: Hyaluronan-binding protein 2 50 kDa heavy chain; Hyaluronan-binding protein 2 50 kDa heavy chain alternate form; Hyaluronan-binding protein 2 27 kDa light chain; Hyaluronan-binding protein 2 27 kDa light chain alternate form]

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; glycosaminoglycan binding [GO:0005539]; serine-type endopeptidase activity [GO:0004252]; cell adhesion [GO:0007155]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14520-1; Sequence=Displayed; Name=2; IsoId=Q14520-2; Sequence=VSP_044583; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:8827452}. Note=Secreted as an inactive single-chain precursor and is then activated to a heterodimeric form.


uniprotID: Q8IYU2
geneSymbol: HACE1
reactome: R-HSA-983168;
length: 909
go: ENSG00000085382;
snps: rs17853353 rs17857038
name:
E3 ubiquitin-protein ligase HACE1 (EC 2.3.2.26) (HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1) (HECT-type E3 ubiquitin transferase HACE1)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; nuclear body [GO:0016604]; nucleus [GO:0005634]; Rab GTPase binding [GO:0017137]; Rac GTPase binding [GO:0048365]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; cell cycle [GO:0007049]; Golgi organization [GO:0007030]; membrane fusion [GO:0061025]; protein K48-linked ubiquitination [GO:0070936]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; Rac protein signal transduction [GO:0016601]; regulation of cell migration [GO:0030334]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IYU2-1; Sequence=Displayed; Name=2; IsoId=Q8IYU2-2; Sequence=VSP_023829; Name=3; IsoId=Q8IYU2-3; Sequence=VSP_023830, VSP_023831; Note=No experimental confirmation available.; Name=4; IsoId=Q8IYU2-4; Sequence=VSP_042378; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane. Cytoplasm. Endoplasmic reticulum. Note=A significant portion localizes to the endoplasmic reticulum. Targeted to Golgi membrane via its interaction with Rab proteins.


uniprotID: Q6Y1H2
geneSymbol: HACD2
reactome: R-HSA-75876;
length: 254
go: ENSG00000206527;
name:
Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 (EC 4.2.1.134) (3-hydroxyacyl-CoA dehydratase 2) (HACD2) (Protein-tyrosine phosphatase-like member B)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 3-hydroxy-arachidoyl-CoA dehydratase activity [GO:0102343]; 3-hydroxy-behenoyl-CoA dehydratase activity [GO:0102344]; 3-hydroxy-lignoceroyl-CoA dehydratase activity [GO:0102345]; 3-hydroxyacyl-CoA dehydratase activity [GO:0018812]; 3R-hydroxyacyl-CoA dehydratase activity [GO:0080023]; enzyme binding [GO:0019899]; very-long-chain 3-hydroxyacyl-CoA dehydratase activity [GO:0102158]; fatty acid elongation [GO:0030497]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; peptidyl-tyrosine dephosphorylation [GO:0035335]; sphingolipid biosynthetic process [GO:0030148]; very long-chain fatty acid biosynthetic process [GO:0042761]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15024066, ECO:0000269|PubMed:18554506}; Multi-pass membrane protein {ECO:0000269|PubMed:15024066, ECO:0000269|PubMed:18554506}.


uniprotID: Q9NYQ3
geneSymbol: HAO2
reactome: R-HSA-390918;R-HSA-9033241;
length: 351
go: ENSG00000116882;
drug: DB03247;
snps: rs34638261 rs6661625
location: SUBCELLULAR LOCATION: Peroxisome.
name:
Hydroxyacid oxidase 2 (HAOX2) (EC 1.1.3.15) ((S)-2-hydroxy-acid oxidase, peroxisomal) (Cell growth-inhibiting gene 16 protein) (Long chain alpha-hydroxy acid oxidase) (Long-chain L-2-hydroxy acid oxidase)

sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; (S)-2-hydroxy-acid oxidase activity [GO:0003973]; FMN binding [GO:0010181]; long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity [GO:0052853]; medium-chain-(S)-2-hydroxy-acid oxidase activity [GO:0052854]; signaling receptor binding [GO:0005102]; very-long-chain-(S)-2-hydroxy-acid oxidase activity [GO:0052852]; fatty acid catabolic process [GO:0009062]; fatty acid oxidation [GO:0019395]; protein targeting to peroxisome [GO:0006625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NYQ3-1; Sequence=Displayed; Name=2; IsoId=Q9NYQ3-2; Sequence=VSP_055095; Note=No experimental confirmation available.; 


uniprotID: Q9NVX0
geneSymbol: HAUS2
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: HAUS augmin-like complex subunit 2 (Centrosomal protein of 27 kDa) (Cep27)
length: 235
go: ENSG00000137814;
snps: rs34678957
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; HAUS complex [GO:0070652]; spindle microtubule [GO:0005876]; cell division [GO:0051301]; centrosome cycle [GO:0007098]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NVX0-1; Sequence=Displayed; Name=2; IsoId=Q9NVX0-2; Sequence=VSP_012223; Name=3; IsoId=Q9NVX0-3; Sequence=VSP_040918; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}.


uniprotID: Q68CZ6
geneSymbol: HAUS3
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: HAUS augmin-like complex subunit 3
length: 603
go: ENSG00000214367;
snps: rs11937432
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; HAUS complex [GO:0070652]; intercellular bridge [GO:0045171]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; mitochondrion [GO:0005739]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; cell division [GO:0051301]; centrosome cycle [GO:0007098]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q68CZ6-1; Sequence=Displayed; Name=2; IsoId=Q68CZ6-2; Sequence=VSP_057022, VSP_057023; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:19427217}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19427217}. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. {ECO:0000269|PubMed:19427217}.


uniprotID: Q9H6D7
geneSymbol: HAUS4
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: HAUS augmin-like complex subunit 4
length: 363
go: ENSG00000092036;
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; HAUS complex [GO:0070652]; microtubule [GO:0005874]; spindle [GO:0005819]; cell division [GO:0051301]; centrosome cycle [GO:0007098]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H6D7-1; Sequence=Displayed; Name=2; IsoId=Q9H6D7-2; Sequence=VSP_007853; Note=No experimental confirmation available.; Name=3; IsoId=Q9H6D7-3; Sequence=VSP_007851; Note=No experimental confirmation available.; Name=4; IsoId=Q9H6D7-4; Sequence=VSP_007852; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}.


uniprotID: P20839
geneSymbol: IMPDH1
reactome: R-HSA-6798695;R-HSA-73817;
pdb: 1JCN;
length: 514
go: ENSG00000106348;
drug: DB01033;DB00688;DB01024;DB00157;DB00811;DB06103;
name:
Inosine-5'-monophosphate dehydrogenase 1 (IMP dehydrogenase 1) (IMPD 1) (IMPDH 1) (EC 1.1.1.205) (IMPDH-I)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; DNA binding [GO:0003677]; IMP dehydrogenase activity [GO:0003938]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; nucleotide binding [GO:0000166]; RNA binding [GO:0003723]; GMP biosynthetic process [GO:0006177]; GTP biosynthetic process [GO:0006183]; lymphocyte proliferation [GO:0046651]; neutrophil degranulation [GO:0043312]; purine ribonucleoside monophosphate biosynthetic process [GO:0009168]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=P20839-1; Sequence=Displayed; Name=2; IsoId=P20839-2; Sequence=VSP_002674; Note=No experimental confirmation available.; Name=3; IsoId=P20839-3; Sequence=VSP_014363; Name=4; IsoId=P20839-4; Sequence=VSP_043485; Note=No experimental confirmation available.; Name=5; IsoId=P20839-5; Sequence=VSP_046969; Note=Ref.2 (BAG53840) sequence has a frameshift in position 35.; Name=6; IsoId=P20839-6; Sequence=VSP_046970; Note=No experimental confirmation available.; Name=7; IsoId=P20839-7; Sequence=VSP_046968; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03156, ECO:0000269|PubMed:14766016}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03156, ECO:0000269|PubMed:14766016}.


uniprotID: P12268
geneSymbol: IMPDH2
reactome: R-HSA-6798695;R-HSA-73817;
pdb: 1B3O;1NF7;1NFB;
length: 514
go: ENSG00000178035;
drug: DB04566;DB01033;DB00688;DB01024;DB00157;DB00811;DB03070;DB06103;
snps: rs121434586
name:
Inosine-5'-monophosphate dehydrogenase 2 (IMP dehydrogenase 2) (IMPD 2) (IMPDH 2) (EC 1.1.1.205) (IMPDH-II)

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]; nucleus [GO:0005634]; peroxisomal membrane [GO:0005778]; secretory granule lumen [GO:0034774]; DNA binding [GO:0003677]; IMP dehydrogenase activity [GO:0003938]; metal ion binding [GO:0046872]; nucleotide binding [GO:0000166]; RNA binding [GO:0003723]; cellular response to interleukin-4 [GO:0071353]; circadian rhythm [GO:0007623]; GMP biosynthetic process [GO:0006177]; GTP biosynthetic process [GO:0006183]; lymphocyte proliferation [GO:0046651]; neutrophil degranulation [GO:0043312]; protein homotetramerization [GO:0051289]; purine ribonucleoside monophosphate biosynthetic process [GO:0009168]; retina development in camera-type eye [GO:0060041]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03156, ECO:0000269|PubMed:14766016}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03156, ECO:0000269|PubMed:14766016}.


uniprotID: Q9BXC0
geneSymbol: HCAR1
reactome: R-HSA-3296197;R-HSA-418594;
name: Hydroxycarboxylic acid receptor 1 (G-protein coupled receptor 104) (G-protein coupled receptor 81)
length: 346
go: ENSG00000196917;
snps: rs35292336 rs36124671
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8TDS4
geneSymbol: HCAR2
reactome: R-HSA-3296197;R-HSA-373076;R-HSA-418594;
length: 363
go: ENSG00000182782;
drug: DB00627;
snps: rs676770 rs676823 rs7314976 rs2454727
name:
Hydroxycarboxylic acid receptor 2 (G-protein coupled receptor 109A) (G-protein coupled receptor HM74A) (Niacin receptor 1) (Nicotinic acid receptor)

sequence:

opentargets:
cell junction [GO:0030054]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; nicotinic acid receptor activity [GO:0070553]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of lipid catabolic process [GO:0050995]; neutrophil apoptotic process [GO:0001781]; positive regulation of adiponectin secretion [GO:0070165]; positive regulation of neutrophil apoptotic process [GO:0033031]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17932499}; Multi-pass membrane protein {ECO:0000269|PubMed:17932499}.


uniprotID: Q16836
geneSymbol: HADH
reactome: R-HSA-77310;R-HSA-77346;R-HSA-77348;R-HSA-77350;R-HSA-77352;
pdb: 1F0Y;1F12;1F14;1F17;1IL0;1LSJ;1LSO;1M75;1M76;2HDH;3HAD;3RQS;
length: 314
go: ENSG00000138796;
drug: DB03612;DB03059;DB00157;
snps: rs137853101 rs137853102 rs4956145 rs1051519 rs137853103
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial (HCDH) (EC 1.1.1.35) (Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase) (Short-chain 3-hydroxyacyl-CoA dehydrogenase)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; 3-hydroxyacyl-CoA dehydrogenase activity [GO:0003857]; NAD+ binding [GO:0070403]; fatty acid beta-oxidation [GO:0006635]; negative regulation of insulin secretion [GO:0046676]; positive regulation of cold-induced thermogenesis [GO:0120162]; response to activity [GO:0014823]; response to drug [GO:0042493]; response to insulin [GO:0032868]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16836-1; Sequence=Displayed; Name=2; IsoId=Q16836-2; Sequence=VSP_016551, VSP_016552; Name=3; IsoId=Q16836-3; Sequence=VSP_016552; Note=No experimental confirmation available.; 


uniprotID: O60741
geneSymbol: HCN1
reactome: R-HSA-1296061;
pdb: 5U6O;5U6P;
length: 890
go: ENSG00000164588;
name:
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 (Brain cyclic nucleotide-gated channel 1) (BCNG-1)

sequence:

opentargets:
axon [GO:0030424]; dendrite [GO:0030425]; HCN channel complex [GO:0098855]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cAMP binding [GO:0030552]; identical protein binding [GO:0042802]; intracellular cAMP-activated cation channel activity [GO:0005222]; potassium channel activity [GO:0005267]; voltage-gated cation channel activity [GO:0022843]; voltage-gated potassium channel activity [GO:0005249]; voltage-gated sodium channel activity [GO:0005248]; apical protein localization [GO:0045176]; cellular response to cAMP [GO:0071320]; potassium ion transmembrane transport [GO:0071805]; protein homotetramerization [GO:0051289]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]; retinal cone cell development [GO:0046549]; sodium ion transmembrane transport [GO:0035725]

snps:
rs56164833 rs544994462 rs587777492 rs1057519548 rs587777493 rs587777495 rs587777494 rs1057519547 rs587777491 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15351778, ECO:0000269|PubMed:28086084}; Multi-pass membrane protein {ECO:0000269|PubMed:15351778, ECO:0000269|PubMed:28086084}.


uniprotID: Q9GZP8
geneSymbol: IMUP
length: 106
go: ENSG00000167644;
opentargets: cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11080599}.
name:
Immortalization up-regulated protein (Hepatocyte growth factor activator inhibitor type 2-related small protein) (H2RSP) (HAI-2-related small protein)

sequence:
MEFDLGAALEPTSQKPGVGAGHGGDPKLSPHKVQGRSEAGAGPGPKQGHHSSSDSSSSSSDSDTDVKSHAAGSKQHESIPGKAKKPKVKKKEKGKKEKGKKKEAPH

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=IMUP-1; IsoId=Q9GZP8-1; Sequence=Displayed; Name=2; Synonyms=IMUP-2; IsoId=Q9GZP8-2; Sequence=VSP_007919; 


uniprotID: Q8NBZ0
geneSymbol: INO80E
reactome: R-HSA-5689603;R-HSA-5696394;
name: INO80 complex subunit E (Coiled-coil domain-containing protein 95)
length: 244
go: ENSG00000169592;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18922472}.
sequence:

opentargets:
Ino80 complex [GO:0031011]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin remodeling [GO:0006338]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NBZ0-1; Sequence=Displayed; Name=2; IsoId=Q8NBZ0-2; Sequence=VSP_055984; Note=No experimental confirmation available.; 


uniprotID: P0DMQ5
geneSymbol: INAFM2
length: 153
go: ENSG00000259330;
opentargets: integral component of membrane [GO:0016021]; calcium channel regulator activity [GO:0005246]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
name:
Putative transmembrane protein INAFM2 (InaF-motif-containing protein 2) (Osteogenesis up-regulated transcript 1)

sequence:
MKERDAAPAERGKPATYTGDKKAKMAAKTNKKWVRLATVFAYVLSVSLAAIVLAVYYSLIWQPVGAGTSGGAAGPPPGGSNATGPSGTSGAAAAGPNTTGSSRREAPRDVPPLQAARPAPPEPPADSPPAGPLERPRGPDEDEEETAAAPGSR


uniprotID: Q9UBK5
geneSymbol: HCST
reactome: R-HSA-198933;
sequence: MIHLGHILFLLLLPVAAAQTTPGERSSLPAFYPGTSGSCSGCGSLSLPLLAGLVAADAVASLLIVGAVFLCARPRRSPAQEDGKVYINMPGRG
length: 93
go: ENSG00000126264;
name:
Hematopoietic cell signal transducer (DNAX-activation protein 10) (Membrane protein DAP10) (Transmembrane adapter protein KAP10)

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; phosphatidylinositol 3-kinase binding [GO:0043548]; signaling receptor binding [GO:0005102]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; protein phosphorylation [GO:0006468]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBK5-1; Sequence=Displayed; Name=2; IsoId=Q9UBK5-2; Sequence=VSP_033022; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10426994}; Single-pass type I membrane protein {ECO:0000269|PubMed:10426994}.


uniprotID: Q92769
geneSymbol: HDAC2
pdb: 3MAX;4LXZ;4LY1;5IWG;5IX0;6G3O;
name: Histone deacetylase 2 (HD2) (EC 3.5.1.98)
length: 488
go: ENSG00000196591;
drug: DB01223;DB05015;DB00227;DB05651;DB01303;DB06603;DB06176;DB05223;DB00277;DB00313;DB02546;
snps: rs1042903 rs17852888
reactome:
R-HSA-193670;R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;R-HSA-3214815;R-HSA-427389;R-HSA-427413;R-HSA-4551638;R-HSA-6804758;R-HSA-73762;R-HSA-8943724;R-HSA-983231;

sequence:

opentargets:
cytoplasm [GO:0005737]; ESC/E(Z) complex [GO:0035098]; histone deacetylase complex [GO:0000118]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NuRD complex [GO:0016581]; protein-containing complex [GO:0032991]; Sin3 complex [GO:0016580]; Sin3-type complex [GO:0070822]; chromatin binding [GO:0003682]; deacetylase activity [GO:0019213]; enzyme binding [GO:0019899]; heat shock protein binding [GO:0031072]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; NAD-dependent histone deacetylase activity (H3-K14 specific) [GO:0032041]; NF-kappaB binding [GO:0051059]; promoter-specific chromatin binding [GO:1990841]; protein deacetylase activity [GO:0033558]; RNA binding [GO:0003723]; RNA polymerase II repressing transcription factor binding [GO:0001103]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; ATP-dependent chromatin remodeling [GO:0043044]; behavioral response to ethanol [GO:0048149]; blood coagulation [GO:0007596]; cardiac muscle hypertrophy [GO:0003300]; cellular response to dopamine [GO:1903351]; cellular response to heat [GO:0034605]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to retinoic acid [GO:0071300]; cellular response to transforming growth factor beta stimulus [GO:0071560]; chromatin remodeling [GO:0006338]; circadian regulation of gene expression [GO:0032922]; dendrite development [GO:0016358]; embryonic digit morphogenesis [GO:0042733]; epidermal cell differentiation [GO:0009913]; eyelid development in camera-type eye [GO:0061029]; fungiform papilla formation [GO:0061198]; hair follicle placode formation [GO:0060789]; histone deacetylation [GO:0016575]; histone H3 deacetylation [GO:0070932]; histone H4 deacetylation [GO:0070933]; maintenance of chromatin silencing [GO:0006344]; negative regulation of apoptotic process [GO:0043066]; negative regulation of dendritic spine development [GO:0061000]; negative regulation of DNA binding [GO:0043392]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of MHC class II biosynthetic process [GO:0045347]; negative regulation of neuron projection development [GO:0010977]; negative regulation of peptidyl-lysine acetylation [GO:2000757]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of cell proliferation [GO:0008284]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of interleukin-1 production [GO:0032732]; positive regulation of oligodendrocyte differentiation [GO:0048714]; positive regulation of proteolysis [GO:0045862]; positive regulation of receptor biosynthetic process [GO:0010870]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; response to amphetamine [GO:0001975]; response to caffeine [GO:0031000]; response to cocaine [GO:0042220]; response to hyperoxia [GO:0055093]; response to lipopolysaccharide [GO:0032496]; response to nicotine [GO:0035094]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92769-1; Sequence=Displayed; Name=2; IsoId=Q92769-3; Sequence=VSP_056175; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24970816}. Cytoplasm {ECO:0000269|PubMed:24970816}.


uniprotID: Q8WTR4
geneSymbol: GDPD5
reactome: R-HSA-6814848;
length: 605
go: ENSG00000158555;
snps: rs571353
name:
Glycerophosphodiester phosphodiesterase domain-containing protein 5 (EC 3.1.4.11) (Glycerophosphodiester phosphodiesterase 2)

sequence:

opentargets:
growth cone [GO:0030426]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; perinuclear endoplasmic reticulum [GO:0097038]; glycerophosphocholine phosphodiesterase activity [GO:0047389]; glycerophosphodiester phosphodiesterase activity [GO:0008889]; cerebral cortex neuron differentiation [GO:0021895]; lipid metabolic process [GO:0006629]; negative regulation of Notch signaling pathway [GO:0045746]; neuron projection development [GO:0031175]; positive regulation of cell cycle [GO:0045787]; positive regulation of neuron differentiation [GO:0045666]; regulation of timing of cell differentiation [GO:0048505]; spinal cord motor neuron differentiation [GO:0021522]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8WTR4-1; Sequence=Displayed; Name=2; IsoId=Q8WTR4-2; Sequence=VSP_020816; Name=3; IsoId=Q8WTR4-3; Sequence=VSP_020815; Name=4; IsoId=Q8WTR4-4; Sequence=VSP_020814; Name=5; IsoId=Q8WTR4-5; Sequence=VSP_020813; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250|UniProtKB:Q640M6}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q640M6}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q640M6}. Note=In a punctate perinuclear pattern. {ECO:0000250|UniProtKB:Q640M6}.


uniprotID: Q9H936
geneSymbol: SLC25A22
reactome: R-HSA-428643;
length: 323
go: ENSG00000177542;
drug: DB00142;
snps: rs121918334
name:
Mitochondrial glutamate carrier 1 (GC-1) (Glutamate/H(+) symporter 1) (Solute carrier family 25 member 22)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; amino acid:proton symporter activity [GO:0005280]; L-aspartate transmembrane transporter activity [GO:0015183]; L-glutamate transmembrane transporter activity [GO:0005313]; aspartate transmembrane transport [GO:0015810]; ion transport [GO:0006811]; L-glutamate transmembrane transport [GO:0015813]; malate-aspartate shuttle [GO:0043490]


uniprotID: A0A0A0MS14
geneSymbol: IGHV1-45
name: Immunoglobulin heavy variable 1-45
length: 117
go: ENSG00000211961;
sequence:
MDWTWRILFLVAAVTDAYSQMQLVQSGAEVKKTGSSVKVSCKASGYTFTYRYLHWVRQAPGQALEWMGWITPFNGNTNYAQKFQDRVTITRDRSMSTAYMELSSLRSEDTAMYYCAR


uniprotID: Q9NWZ8
geneSymbol: GEMIN8
reactome: R-HSA-191859;
name: Gem-associated protein 8 (Gemin-8) (Protein FAM51A1)
length: 242
go: ENSG00000046647;
snps: rs3747421
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Gemini of coiled bodies [GO:0097504]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SMN complex [GO:0032797]; SMN-Sm protein complex [GO:0034719]; import into nucleus [GO:0051170]; spliceosomal snRNP assembly [GO:0000387]

location:
SUBCELLULAR LOCATION: Nucleus, gem {ECO:0000269|PubMed:16434402}. Cytoplasm {ECO:0000269|PubMed:16434402}. Note=Found in nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. Also found in the cytoplasm.


uniprotID: Q6P9H5
geneSymbol: GIMAP6
length: 292
go: ENSG00000133561;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]; GTP binding [GO:0005525]
snps: rs17173519 rs11974345 rs13234724 rs11977216
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23454188}.
name:
GTPase IMAP family member 6 (Immunity-associated nucleotide 2 protein) (IAN-2) (hIAN2) (Immunity-associated nucleotide 6 protein) (IAN-6) (hIAN6)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P9H5-1; Sequence=Displayed; Name=2; IsoId=Q6P9H5-2; Sequence=VSP_033436; Name=3; IsoId=Q6P9H5-3; Sequence=VSP_045595, VSP_045596; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P0DJR0
geneSymbol: GIMD1
name: GTPase IMAP family member GIMD1 (GIMAP family P-loop NTPase domain-containing protein 1)
length: 217
go: ENSG00000250298;
opentargets: GTP binding [GO:0005525]
sequence:


uniprotID: Q9NU53
geneSymbol: GINM1
name: Glycoprotein integral membrane protein 1
length: 330
go: ENSG00000055211;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: P0DP07
geneSymbol: IGHV4-31
name: Immunoglobulin heavy variable 4-31
length: 118
sequence:
MKHLWFFLLLVAAPRWVLSQVQLQESGPGLVKPSQTLSLTCTVSGGSISSGGYYWSWIRQHPGKGLEWIGYIYYSGSTYYNPSLKSLVTISVDTSKNQFSLKLSSVTAADTAVYYCAR


uniprotID: O94923
geneSymbol: GLCE
reactome: R-HSA-2022928;
length: 617
go: ENSG00000138604;
snps: rs12440300 rs3865014
name:
D-glucuronyl C5-epimerase (EC 5.1.3.17) (Heparan sulfate C5-epimerase) (Hsepi) (Heparin/heparan sulfate:glucuronic acid C5-epimerase) (Heparosan-N-sulfate-glucuronate 5-epimerase)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; heparosan-N-sulfate-glucuronate 5-epimerase activity [GO:0047464]; racemase and epimerase activity, acting on carbohydrates and derivatives [GO:0016857]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; heparin biosynthetic process [GO:0030210]


uniprotID: A0A0J9YX35
geneSymbol: IGHV3-64D
name: Immunoglobulin heavy variable 3-64D
length: 117
sequence:
MEFWLSWVLLVAILKDVQCEVQLVESGGGLVQPGGSLRLSCSASGFTFSSYAMHWVRQAPGKGLEYVSAISSNGGSTYYADSVKGRFTISRDNSKNTLYLQMSSLRAEDTAVYYCVK


uniprotID: A0A0G2JMI3
geneSymbol: IGHV1-69-2
name: Immunoglobulin heavy variable 1-69-2
length: 117
sequence:
MDCTWRILLLVAAATGTHAEVQLVQSGAEVKKPGATVKISCKVSGYTFTDYYMHWVQQAPGKGLEWMGLVDPEDGETIYAEKFQGRVTITADTSTDTAYMELSSLRSEDTAVYYCAT


uniprotID: P0DP06
geneSymbol: IGHV4-30-4
name: Immunoglobulin heavy variable 4-30-4
length: 118
sequence:
MKHLWFFLLLVAAPRWVLSQVQLQESGPGLVKPSQTLSLTCTVSGGSISSGDYYWSWIRQPPGKGLEWIGYIYYSGSTYYNPSLKSRVTISVDTSKNQFSLKLSSVTAADTAVYYCAR


uniprotID: P30793
geneSymbol: GCH1
reactome: R-HSA-1474151;
pdb: 1FB1;
name: GTP cyclohydrolase 1 (EC 3.5.4.16) (GTP cyclohydrolase I) (GTP-CH-I)
length: 250
go: ENSG00000131979;
drug: DB02377;DB02325;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; neuron projection terminus [GO:0044306]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; calcium ion binding [GO:0005509]; coenzyme binding [GO:0050662]; GTP binding [GO:0005525]; GTP cyclohydrolase I activity [GO:0003934]; GTP-dependent protein binding [GO:0030742]; GTPase activity [GO:0003924]; mitogen-activated protein kinase binding [GO:0051019]; protein homodimerization activity [GO:0042803]; translation initiation factor binding [GO:0031369]; zinc ion binding [GO:0008270]; 7,8-dihydroneopterin 3'-triphosphate biosynthetic process [GO:0035998]; cofactor metabolic process [GO:0051186]; dopamine biosynthetic process [GO:0042416]; negative regulation of blood pressure [GO:0045776]; neuromuscular process controlling posture [GO:0050884]; nitric oxide biosynthetic process [GO:0006809]; positive regulation of heart rate [GO:0010460]; positive regulation of nitric-oxide synthase activity [GO:0051000]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; pteridine-containing compound biosynthetic process [GO:0042559]; regulation of blood pressure [GO:0008217]; regulation of lung blood pressure [GO:0014916]; regulation of removal of superoxide radicals [GO:2000121]; response to interferon-gamma [GO:0034341]; response to lipopolysaccharide [GO:0032496]; response to pain [GO:0048265]; response to tumor necrosis factor [GO:0034612]; tetrahydrobiopterin biosynthetic process [GO:0006729]; tetrahydrofolate biosynthetic process [GO:0046654]; vasodilation [GO:0042311]

snps:
rs41298432 rs104894433 rs104894435 rs104894437 rs104894441 rs104894440 rs104894445 rs762208304 rs104894438 rs988395114 rs104894443 rs104894434 rs41298442 rs104894442 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=GCH-1; IsoId=P30793-1; Sequence=Displayed; Name=GCH-2; IsoId=P30793-2; Sequence=VSP_001612, VSP_001613; Name=GCH-3; IsoId=P30793-3; Sequence=VSP_001610; Name=GCH-4; IsoId=P30793-4; Sequence=VSP_001611, VSP_001614; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12176133, ECO:0000269|PubMed:16778797, ECO:0000269|PubMed:2463916}. Nucleus {ECO:0000269|PubMed:16778797}.


uniprotID: P47870
geneSymbol: GABRB2
reactome: R-HSA-112314;R-HSA-977441;
pdb: 6D6T;6D6U;
name: Gamma-aminobutyric acid receptor subunit beta-2 (GABA(A) receptor subunit beta-2)
length: 512
go: ENSG00000145864;
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; GABA-A receptor complex [GO:1902711]; GABA-ergic synapse [GO:0098982]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; synapse [GO:0045202]; chloride channel activity [GO:0005254]; GABA-A receptor activity [GO:0004890]; inhibitory extracellular ligand-gated ion channel activity [GO:0005237]; 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]; 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]; sensory perception of sound [GO:0007605]; signal transduction [GO:0007165]; synaptic transmission, GABAergic [GO:0051932]

drug:
DB00659;DB00546;DB00404;DB00543;DB01558;DB00237;DB00241;DB00475;DB01594;DB00349;DB01068;DB00628;DB01559;DB01189;DB00829;DB00228;DB01049;DB01215;DB00402;DB00898;DB00189;DB00292;DB01567;DB01205;DB00690;DB06716;DB01381;DB01437;DB00801;DB01159;DB00753;DB00186;DB00371;DB00463;DB01028;DB01107;DB00683;DB01595;DB00334;DB00842;DB00312;DB01708;DB01588;DB00794;DB00818;DB01589;DB01236;DB00306;DB00231;DB11582;DB00273;DB00897;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long, Beta-2L; IsoId=P47870-2; Sequence=Displayed; Name=2; Synonyms=Short, Beta-2S; IsoId=P47870-1; Sequence=VSP_038825; Name=3; Synonyms=Beta-2S1; IsoId=P47870-3; Sequence=VSP_038823, VSP_038824, VSP_038828; Name=4; Synonyms=Beta-2S2; IsoId=P47870-4; Sequence=VSP_038825, VSP_038826, VSP_038827; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:19763268, ECO:0000269|PubMed:8264558}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P63138}.


uniprotID: Q9UK05
geneSymbol: GDF2
reactome: R-HSA-201451;
pdb: 1ZKZ;4FAO;4MPL;4YCG;4YCI;5HZW;5I05;
name: Growth/differentiation factor 2 (GDF-2) (Bone morphogenetic protein 9) (BMP-9)
length: 429
go: ENSG00000263761;
snps: rs200330818 rs199804679 rs35129734
sequence:

opentargets:
cell [GO:0005623]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160]; activin receptor signaling pathway [GO:0032924]; angiogenesis [GO:0001525]; blood vessel morphogenesis [GO:0048514]; BMP signaling pathway [GO:0030509]; branching involved in blood vessel morphogenesis [GO:0001569]; cartilage development [GO:0051216]; cell development [GO:0048468]; cellular iron ion homeostasis [GO:0006879]; cellular response to BMP stimulus [GO:0071773]; negative regulation of angiogenesis [GO:0016525]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of cell growth [GO:0030308]; negative regulation of DNA biosynthetic process [GO:2000279]; negative regulation of DNA replication [GO:0008156]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of endothelial cell proliferation [GO:0001937]; ossification [GO:0001503]; osteoblast differentiation [GO:0001649]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; positive regulation of angiogenesis [GO:0045766]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of cartilage development [GO:0061036]; positive regulation of endothelial cell differentiation [GO:0045603]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; SMAD protein signal transduction [GO:0060395]; vasculogenesis [GO:0001570]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:18309101, ECO:0000269|PubMed:21710321, ECO:0000269|PubMed:25237187}.


uniprotID: Q5JRK9
geneSymbol: PAGE2B
name: Putative G antigen family E member 3 (Prostate-associated gene 2B protein) (PAGE-2B)
length: 111
go: ENSG00000238269;
sequence:
MSEHVRTRSQSSERGNDQESSQPVGSVIVQEPTEEKRQEEEPPTDNQGIAPSGEIENEGAPAVQGPDMEAFQQELALLKIEDEPGDGPDVREGIMPTFDLTKVLEAGDAQP


uniprotID: P14136
geneSymbol: GFAP
reactome: R-HSA-1251985;
pdb: 6A9P;
name: Glial fibrillary acidic protein (GFAP)
length: 432
go: ENSG00000131095;
sequence:

opentargets:
astrocyte end-foot [GO:0097450]; cell body [GO:0044297]; cytoplasm [GO:0005737]; cytoplasmic side of lysosomal membrane [GO:0098574]; cytosol [GO:0005829]; intermediate filament [GO:0005882]; myelin sheath [GO:0043209]; identical protein binding [GO:0042802]; integrin binding [GO:0005178]; kinase binding [GO:0019900]; structural constituent of cytoskeleton [GO:0005200]; astrocyte development [GO:0014002]; Bergmann glial cell differentiation [GO:0060020]; extracellular matrix organization [GO:0030198]; intermediate filament organization [GO:0045109]; long-term synaptic potentiation [GO:0060291]; negative regulation of neuron projection development [GO:0010977]; neuron projection regeneration [GO:0031102]; positive regulation of Schwann cell proliferation [GO:0010625]; regulation of chaperone-mediated autophagy [GO:1904714]; regulation of neurotransmitter uptake [GO:0051580]; regulation of protein complex assembly [GO:0043254]; response to wounding [GO:0009611]

snps:
rs57474185 rs60095124 rs797044569 rs267607510 rs60343255 rs267607523 rs61060395 rs61060395 rs61060395 rs267607504 rs57120761 rs57120761 rs57590980 rs58732244 rs121909720 rs797044571 rs59793293 rs59793293 rs59285727 rs59285727 rs59285727 rs267607506 rs797044573 rs61622935 rs61622935 rs59661476 rs59568967 rs267607516 rs56746197 rs59291670 rs267607500 rs267607500 rs57661783 rs56679084 rs60269890 rs267607525 rs58064122 rs59565950 rs59565950 rs59565950 rs60551555 rs61497286 rs61726470 rs267607505 rs61726468 rs797044581 rs121909719 rs58536923 rs1126642 rs267607513 rs267607514 rs28932769 rs267607511 rs60825166 rs121909718 rs58645997 rs58008462 rs267607526 rs57815192 rs58075601 rs58075601 rs59628143 rs267607512 rs797044590 rs121909717 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Isoforms differ in the C-terminal region which is encoded by alternative exons.; Name=1; Synonyms=GFAP alpha; IsoId=P14136-1; Sequence=Displayed; Name=2; IsoId=P14136-2; Sequence=VSP_017051; Note=No experimental confirmation available.; Name=3; Synonyms=GFAP epsilon; IsoId=P14136-3; Sequence=VSP_017052; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12058025}. Note=Associated with intermediate filaments.


uniprotID: P30047
geneSymbol: GCHFR
reactome: R-HSA-1474151;
sequence: MPYLLISTQIRMEVGPTMVGDEQSDPELMQHLGASKRRALGNNFYEYYVDDPPRIVLDKLERRGFRVLSMTGVGQTLVWCLHKE
length: 84
go: ENSG00000137880;
name:
GTP cyclohydrolase 1 feedback regulatory protein (GFRP) (GTP cyclohydrolase I feedback regulatory protein) (p35)

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; melanosome [GO:0042470]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; amino acid binding [GO:0016597]; enzyme inhibitor activity [GO:0004857]; GTP cyclohydrolase binding [GO:0044549]; GTP-dependent protein binding [GO:0030742]; cofactor metabolic process [GO:0051186]; negative regulation of biosynthetic process [GO:0009890]; negative regulation of GTP cyclohydrolase I activity [GO:0043105]; neurotransmitter metabolic process [GO:0042133]; nitric oxide biosynthetic process [GO:0006809]; protein heterooligomerization [GO:0051291]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30047-1; Sequence=Displayed; Name=2; IsoId=P30047-2; Sequence=VSP_055592; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16778797}. Nucleus membrane {ECO:0000269|PubMed:16778797}. Cytoplasm, cytosol {ECO:0000269|PubMed:16778797}.


uniprotID: Q9NWU2
geneSymbol: GID8
name: Glucose-induced degradation protein 8 homolog (Two hybrid-associated protein 1 with RanBPM) (Twa1)
length: 228
go: ENSG00000101193;
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; protein homodimerization activity [GO:0042803]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell proliferation [GO:0008284]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17467196, ECO:0000269|PubMed:24143168, ECO:0000269|PubMed:28829046}. Nucleus {ECO:0000269|PubMed:12559565, ECO:0000269|PubMed:17467196, ECO:0000269|PubMed:24143168, ECO:0000269|PubMed:28829046, ECO:0000269|PubMed:29911972}. Note=Localizes in the cytoplasm in the absence of Wnt stimulation and in the nucleus in the presence of Wnt stimulation. {ECO:0000269|PubMed:28829046}.


uniprotID: Q9H1C3
geneSymbol: GLT8D2
name: Glycosyltransferase 8 domain-containing protein 2 (EC 2.4.1.-)
length: 349
go: ENSG00000120820;
snps: rs17035120
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]; transferase activity, transferring glycosyl groups [GO:0016757]


uniprotID: P01762
geneSymbol: IGHV3-11
name: Immunoglobulin heavy variable 3-11 (Ig heavy chain V-III region TRO)
length: 117
go: ENSG00000211941;
sequence:
MEFGLSWVFLVAIIKGVQCQVQLVESGGGLVKPGGSLRLSCAASGFTFSDYYMSWIRQAPGKGLEWVSYISSSSSYTNYADSVKGRFTISRDNAKNSLYLQMNSLRAEDTAVYYCAR


uniprotID: A6NEY3
geneSymbol: GOLGA6L3
name: Putative golgin subfamily A member 6-like protein 3
length: 463
opentargets: Golgi apparatus [GO:0005794]
sequence:


uniprotID: A0A0C4DH32
geneSymbol: IGHV3-20
name: Immunoglobulin heavy variable 3-20
length: 117
sequence:
MEFGLSWVFLVAILKGVQCEVQLVESGGGVVRPGGSLRLSCAASGFTFDDYGMSWVRQAPGKGLEWVSGINWNGGSTGYADSVKGRFTISRDNAKNSLYLQMNSLRAEDTALYHCAR


uniprotID: A0A0C4DH42
geneSymbol: IGHV3-66
name: Immunoglobulin heavy variable 3-66
length: 116
go: ENSG00000211972;
sequence:
MEFGLSWVFLVAILKGVQCEVQLVESGGGLIQPGGSLRLSCAASGFTVSSNYMSWVRQAPGKGLEWVSVIYSCGSTYYADSVKGRFTISRDNSKNTLYLQMNSLRAEDTAVYYCAR


uniprotID: P06331
geneSymbol: IGHV4-34
name: Immunoglobulin heavy variable 4-34 (Ig heavy chain V-II region ARH-77)
length: 123
go: ENSG00000211956;
sequence:
MDLLHKNMKHLWFFLLLVAAPRWVLSQVQLQQWGAGLLKPSETLSLTCAVYGGSFSGYYWSWIRQPPGKGLEWIGEINHSGSTNYNPSLKSRVTISVDTSKNQFSLKLSSVTAADTAVYYCAR


uniprotID: A0A0C4DH41
geneSymbol: IGHV4-61
name: Immunoglobulin heavy variable 4-61
length: 118
go: ENSG00000211970;
sequence:
MKHLWFFLLLVAAPRWVLSQVQLQESGPGLVKPSETLSLTCTVSGGSVSSGSYYWSWIRQPPGKGLEWIGYIYYSGSTNYNPSLKSRVTISVDTSKNQFSLKLSSVTAADTAVYYCAR


uniprotID: A0A0C4DH38
geneSymbol: IGHV5-51
name: Immunoglobulin heavy variable 5-51
length: 117
go: ENSG00000211966;
sequence:
MGSTAILALLLAVLQGVCAEVQLVQSGAEVKKPGESLKISCKGSGYSFTSYWIGWVRQMPGKGLEWMGIIYPGDSDTRYSPSFQGQVTISADKSISTAYLQWSSLKASDTAMYYCAR


uniprotID: Q16445
geneSymbol: GABRA6
reactome: R-HSA-112314;R-HSA-977441;
name: Gamma-aminobutyric acid receptor subunit alpha-6 (GABA(A) receptor subunit alpha-6)
length: 453
go: ENSG00000145863;
snps: rs3811993 rs34907804
sequence:

opentargets:
cell junction [GO:0030054]; cerebellar Golgi cell to granule cell synapse [GO:0099192]; chloride channel complex [GO:0034707]; dendrite membrane [GO:0032590]; GABA-A receptor complex [GO:1902711]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; benzodiazepine receptor activity [GO:0008503]; chloride channel activity [GO:0005254]; GABA-A receptor activity [GO:0004890]; GABA-gated chloride ion channel activity [GO:0022851]; inhibitory extracellular ligand-gated ion channel activity [GO:0005237]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; gamma-aminobutyric acid signaling pathway [GO:0007214]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; regulation of postsynaptic membrane potential [GO:0060078]; signal transduction [GO:0007165]; synaptic transmission, GABAergic [GO:0051932]

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


uniprotID: P52566
geneSymbol: ARHGDIB
reactome: R-HSA-194840;
pdb: 1DS6;5H1D;
name: Rho GDP-dissociation inhibitor 2 (Rho GDI 2) (Ly-GDI) (Rho-GDI beta)
length: 201
go: ENSG00000111348;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10802295}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; GTPase activator activity [GO:0005096]; GTPase activity [GO:0003924]; Rac GTPase binding [GO:0048365]; Rho GDP-dissociation inhibitor activity [GO:0005094]; cellular response to redox state [GO:0071461]; multicellular organism development [GO:0007275]; negative regulation of cell adhesion [GO:0007162]; negative regulation of trophoblast cell migration [GO:1901164]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]


uniprotID: Q6Y7W6
geneSymbol: GIGYF2
pdb: 5NVL;5NVM;
length: 1299
go: ENSG00000204120;
name:
GRB10-interacting GYF protein 2 (PERQ amino acid-rich with GYF domain-containing protein 2) (Trinucleotide repeat-containing gene 15 protein)

sequence:

opentargets:
cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endosome [GO:0005768]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; perikaryon [GO:0043204]; protein-containing complex [GO:0032991]; proximal dendrite [GO:1990635]; cadherin binding [GO:0045296]; proline-rich region binding [GO:0070064]; RNA binding [GO:0003723]; adult locomotory behavior [GO:0008344]; cellular protein metabolic process [GO:0044267]; feeding behavior [GO:0007631]; homeostasis of number of cells within a tissue [GO:0048873]; insulin-like growth factor receptor signaling pathway [GO:0048009]; mitotic G1 DNA damage checkpoint [GO:0031571]; mRNA destabilization [GO:0061157]; multicellular organism growth [GO:0035264]; musculoskeletal movement [GO:0050881]; negative regulation of translation [GO:0017148]; neuromuscular process controlling balance [GO:0050885]; post-embryonic development [GO:0009791]; posttranscriptional gene silencing [GO:0016441]; spinal cord motor neuron differentiation [GO:0021522]

snps:
rs72554080 rs141225775 rs118203904 rs776898936 rs148277228 rs34845648 rs116074753 rs2289912 rs761136505 rs118203903 rs773011114 rs72554081 rs114013774 rs769022021 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6Y7W6-1; Sequence=Displayed; Name=2; IsoId=Q6Y7W6-3; Sequence=VSP_022244, VSP_043471; Name=3; IsoId=Q6Y7W6-4; Sequence=VSP_044996, VSP_044997; Note=No experimental confirmation available.; Name=4; IsoId=Q6Y7W6-5; Sequence=VSP_044996; Note=No experimental confirmation available.; 


uniprotID: Q99684
geneSymbol: GFI1
name: Zinc finger protein Gfi-1 (Growth factor independent protein 1) (Zinc finger protein 163)
length: 422
go: ENSG00000162676;
snps: rs34631763 rs28936381 rs28936382
sequence:

opentargets:
nuclear body [GO:0016604]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; transcription regulatory region DNA binding [GO:0044212]; cellular response to lipopolysaccharide [GO:0071222]; hemopoiesis [GO:0030097]; negative regulation of calcidiol 1-monooxygenase activity [GO:0010956]; negative regulation of neuron projection development [GO:0010977]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of vitamin D biosynthetic process [GO:0010957]; positive regulation of interleukin-6-mediated signaling pathway [GO:0070105]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of histone H3-K4 methylation [GO:0051569]; regulation of toll-like receptor signaling pathway [GO:0034121]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11060035, ECO:0000269|PubMed:12874834, ECO:0000269|PubMed:18805794, ECO:0000269|PubMed:20547752, ECO:0000269|PubMed:8754800}. Note=Colocalizes with PIAS3 and RUNX1T1 in nuclear dots.


uniprotID: P43026
geneSymbol: GDF5
reactome: R-HSA-2129379;
pdb: 1WAQ;2BHK;3EVS;3QB4;5HK5;
length: 501
drug: DB02325;
snps: rs34534075 rs28936397 rs224331 rs28936683
name:
Growth/differentiation factor 5 (GDF-5) (Bone morphogenetic protein 14) (BMP-14) (Cartilage-derived morphogenetic protein 1) (CDMP-1) (Lipopolysaccharide-associated protein 4) (LAP-4) (LPS-associated protein 4) (Radotermin)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; BMP binding [GO:0036122]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; identical protein binding [GO:0042802]; transforming growth factor beta receptor binding [GO:0005160]; BMP signaling pathway [GO:0030509]; cell development [GO:0048468]; cell-cell signaling [GO:0007267]; chondroblast differentiation [GO:0060591]; chondrocyte differentiation [GO:0002062]; embryonic limb morphogenesis [GO:0030326]; forelimb morphogenesis [GO:0035136]; hindlimb morphogenesis [GO:0035137]; negative regulation of chondrocyte differentiation [GO:0032331]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of mesenchymal cell apoptotic process [GO:2001054]; negative regulation of neuron apoptotic process [GO:0043524]; ossification involved in bone remodeling [GO:0043932]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; regulation of multicellular organism growth [GO:0040014]; regulation of SMAD protein signal transduction [GO:0060390]; response to mechanical stimulus [GO:0009612]; SMAD protein signal transduction [GO:0060395]; transforming growth factor beta receptor signaling pathway [GO:0007179]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11276205}. Cell membrane {ECO:0000269|PubMed:11276205}.


uniprotID: Q9H3K2
geneSymbol: GHITM
length: 345
go: ENSG00000165678;
name:
Growth hormone-inducible transmembrane protein (Dermal papilla-derived protein 2) (Mitochondrial morphology and cristae structure 1) (MICS1) (Transmembrane BAX inhibitor motif-containing protein 5)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; apoptotic process [GO:0006915]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:18417609}; Multi-pass membrane protein {ECO:0000269|PubMed:18417609}.


uniprotID: Q9UJ14
geneSymbol: GGT7
reactome: R-HSA-174403;R-HSA-5423646;
length: 662
go: ENSG00000131067;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
name:
Glutathione hydrolase 7 (EC 3.4.19.13) (Gamma-glutamyltransferase 7) (GGT 7) (EC 2.3.2.2) (Gamma-glutamyltransferase-like 3) (Gamma-glutamyltransferase-like 5) (Gamma-glutamyltranspeptidase 7) [Cleaved into: Glutathione hydrolase 7 heavy chain; Glutathione hydrolase 7 light chain]

sequence:

opentargets:
integral component of membrane [GO:0016021]; 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]; peptidyltransferase activity [GO:0000048]; cellular amino acid metabolic process [GO:0006520]; cysteine biosynthetic process [GO:0019344]; glutamate metabolic process [GO:0006536]; glutathione biosynthetic process [GO:0006750]; glutathione catabolic process [GO:0006751]; glutathione metabolic process [GO:0006749]; leukotriene D4 biosynthetic process [GO:1901750]; negative regulation of response to oxidative stress [GO:1902883]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=a; IsoId=Q9UJ14-1; Sequence=Displayed; Note=Gene prediction confirmed by EST data.; Name=2; IsoId=Q9UJ14-4; Sequence=VSP_008134, VSP_008138, VSP_008139; Note=No experimental confirmation available.; Name=3; Synonyms=GGTL3B, B; IsoId=Q9UJ14-5; Sequence=VSP_008136, VSP_008137; Name=4; IsoId=Q9UJ14-6; Sequence=VSP_008133, VSP_008140, VSP_008141; Note=No experimental confirmation available.; 


uniprotID: Q8TF65
geneSymbol: GIPC2
pdb: 3GGE;
name: PDZ domain-containing protein GIPC2
length: 315
go: ENSG00000137960;
opentargets: cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; identical protein binding [GO:0042802]
snps: rs17101180 rs540742
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:


uniprotID: Q14390
geneSymbol: GGTLC2
length: 218
go: ENSG00000100121;
snps: rs2904923 rs2330126
name:
Glutathione hydrolase light chain 2 (Gamma-glutamyltransferase light chain 2) (Gamma-glutamyltransferase-like protein 4)

sequence:

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


uniprotID: A6NDE8
geneSymbol: GAGE12H
name: G antigen 12H (GAGE-12H)
length: 117
sequence:
MSWRGRSTYYWPRPRRYVQPPEMIGPMRPEQFSDEVEPATPEEGEPATQCQDPAAAQKGEDEGASAGQGPKPEAHSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGEKQSQC


uniprotID: A0A1B0GV03
geneSymbol: GOLGA6L7
name: Golgin subfamily A member 6-like protein 7
length: 622
go: ENSG00000261649;
sequence:


uniprotID: P01768
geneSymbol: IGHV3-30
length: 117
go: ENSG00000270550;
drug: DB08635;
name:
Immunoglobulin heavy variable 3-30 (Ig heavy chain V-III region BUR) (Ig heavy chain V-III region CAM) (Ig heavy chain V-III region GA) (Ig heavy chain V-III region NIE)

sequence:
MEFGLSWVFLVALLRGVQCQVQLVESGGGVVQPGRSLRLSCAASGFTFSSYGMHWVRQAPGKGLEWVAVISYDGSNKYYADSVKGRFTISRDNSKNTLYLQMNSLRAEDTAVYYCAK

opentargets:
external side of plasma membrane [GO:0009897]; 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: Q9UJY5
geneSymbol: GGA1
reactome: R-HSA-8854214;R-HSA-977225;
length: 639
go: ENSG00000100083;
snps: rs765255006
pdb:
1J2J;1JWF;1JWG;1NA8;1NAF;1NWM;1O3X;1OM9;1OXZ;1PY1;1UJJ;1UJK;1X79;2DWX;2DWY;3G2S;3G2T;3G2U;3G2V;3G2W;

name:
ADP-ribosylation factor-binding protein GGA1 (Gamma-adaptin-related protein 1) (Golgi-localized, gamma ear-containing, ARF-binding protein 1)

sequence:

opentargets:
clathrin adaptor complex [GO:0030131]; early endosome membrane [GO:0031901]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; ADP-ribosylation factor binding [GO:0030306]; protein heterodimerization activity [GO:0046982]; cellular protein metabolic process [GO:0044267]; intracellular protein transport [GO:0006886]; positive regulation of protein catabolic process [GO:0045732]; toxin transport [GO:1901998]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9UJY5-1; Sequence=Displayed; Name=2; IsoId=Q9UJY5-2; Sequence=VSP_001744; Note=No experimental confirmation available.; Name=3; IsoId=Q9UJY5-3; Sequence=VSP_042806; Name=4; IsoId=Q9UJY5-4; Sequence=VSP_042809; Name=5; IsoId=Q9UJY5-5; Sequence=VSP_042807, VSP_042808; Name=6; IsoId=Q9UJY5-6; Sequence=VSP_057352; Note=No experimental confirmation available.; 

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


uniprotID: Q9NR23
geneSymbol: GDF3
name: Growth/differentiation factor 3 (GDF-3)
length: 364
go: ENSG00000184344;
snps: rs146973734 rs12819884 rs140926412 rs387906946 rs387906945 rs2302516
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; protein kinase binding [GO:0019901]; transforming growth factor beta receptor binding [GO:0005160]; BMP signaling pathway [GO:0030509]; cell development [GO:0048468]; endoderm development [GO:0007492]; eye development [GO:0001654]; formation of anatomical boundary [GO:0048859]; in utero embryonic development [GO:0001701]; mesoderm development [GO:0007498]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of epidermal cell differentiation [GO:0045605]; negative regulation of myoblast differentiation [GO:0045662]; notochord development [GO:0030903]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; primitive streak formation [GO:0090009]; regulation of apoptotic process [GO:0042981]; regulation of cell fate commitment [GO:0010453]; regulation of MAPK cascade [GO:0043408]; response to dietary excess [GO:0002021]; skeletal system development [GO:0001501]; SMAD protein signal transduction [GO:0060395]; somite rostral/caudal axis specification [GO:0032525]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19864492, ECO:0000269|PubMed:21805089}. Cytoplasm {ECO:0000269|PubMed:19864492, ECO:0000269|PubMed:21805089}. Note=Mainly accumulated in the cytoplasm. {ECO:0000269|PubMed:21805089}.


uniprotID: Q86UU5
geneSymbol: GGN
name: Gametogenetin
length: 652
go: ENSG00000179168;
sequence:

opentargets:
nucleolus [GO:0005730]; perinuclear region of cytoplasm [GO:0048471]; protein dimerization activity [GO:0046983]; ubiquitin protein ligase binding [GO:0031625]; cell differentiation [GO:0030154]; double-strand break repair [GO:0006302]; embryo implantation [GO:0007566]; gamete generation [GO:0007276]; protein localization [GO:0008104]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86UU5-1; Sequence=Displayed; Name=2; IsoId=Q86UU5-2; Sequence=VSP_019166, VSP_019169, VSP_019170; Name=3; IsoId=Q86UU5-3; Sequence=VSP_019167, VSP_019168; 


uniprotID: A1L429
geneSymbol: GAGE12B; GAGE12C; GAGE12D; GAGE12E
name: G antigen 12B/C/D/E (GAGE-12B) (GAGE-12C) (GAGE-12D) (GAGE-12E)
length: 117
sequence:
MSWRGRSTYYWPRPRRYVQPPEMIGPMRPEQFSDEVEPATPEEGEPATQCQDPAAAQEGEDEGASAGQGPKPEAHSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGEKQSQC


uniprotID: P48546
geneSymbol: GIPR
reactome: R-HSA-418555;R-HSA-420092;
pdb: 2QKH;4HJ0;
length: 466
go: ENSG00000010310;
snps: rs13306402 rs1800436 rs5392 rs1800437
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Gastric inhibitory polypeptide receptor (GIP-R) (Glucose-dependent insulinotropic polypeptide receptor)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; gastric inhibitory peptide receptor activity [GO:0016519]; peptide hormone binding [GO:0017046]; transmembrane signaling receptor activity [GO:0004888]; activation of adenylate cyclase activity [GO:0007190]; cell surface receptor signaling pathway [GO:0007166]; desensitization of G protein-coupled receptor signaling pathway [GO:0002029]; endocrine pancreas development [GO:0031018]; G protein-coupled receptor signaling pathway [GO:0007186]; generation of precursor metabolites and energy [GO:0006091]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of insulin secretion [GO:0032024]; regulation of insulin secretion [GO:0050796]; response to axon injury [GO:0048678]; response to calcium ion [GO:0051592]; response to fatty acid [GO:0070542]; response to glucose [GO:0009749]; response to nutrient [GO:0007584]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P48546-1; Sequence=Displayed; Name=2; IsoId=P48546-2; Sequence=VSP_053867, VSP_053868; Name=3; IsoId=P48546-3; Sequence=VSP_053866; 


uniprotID: Q9NUV9
geneSymbol: GIMAP4
pdb: 3LXX;
length: 329
go: ENSG00000133574;
opentargets: cytosol [GO:0005829]; GTP binding [GO:0005525]
snps: rs2293172
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23454188}.
name:
GTPase IMAP family member 4 (Immunity-associated nucleotide 1 protein) (IAN-1) (hIAN1) (Immunity-associated protein 4)

sequence:


uniprotID: Q86XP6
geneSymbol: GKN2
name: Gastrokine-2 (Blottin) (Down-regulated in gastric cancer) (Trefoil factor interactions(z) 1)
length: 184
go: ENSG00000183607;
snps: rs1128272
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKILVAFLVVLTIFGIQSHGYEVFNIISPSNNGGNVQETVTIDNEKNTAIINIHAGSCSSTTIFDYKHGYIASRVLSRRACFILKMDHQNIPPLNNLQWYIYEKQALDNMFSSKYTWVKYNPLESLIKDVDWFLLGSPIEKLCKHIPLYKGEVVENTHNVGAGGCAKAGLLGILGISICADIHV

opentargets:
basal part of cell [GO:0045178]; extracellular space [GO:0005615]; response to bacterium [GO:0009617]


uniprotID: P01782
geneSymbol: IGHV3-9
name: Immunoglobulin heavy variable 3-9 (Ig heavy chain V-III region DOB)
length: 118
sequence:
MELGLSWIFLLAILKGVQCEVQLVESGGGLVQPGRSLRLSCAASGFTFDDYAMHWVRQAPGKGLEWVSGISWNSGSIGYADSVKGRFTISRDNAKNSLYLQMNSLRAEDTALYYCAKD

opentargets:
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: A6NER3
geneSymbol: GAGE12J
name: G antigen 12J (GAGE-12J)
length: 117
snps: rs7064096 rs7064105 rs6520418 rs7064530
sequence:
MSWRGRSTYYWPRPRPYVQPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEADSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGKKQSQC


uniprotID: Q9Y223
geneSymbol: GNE
reactome: R-HSA-4085001;R-HSA-4085011;
pdb: 2YHW;2YHY;2YI1;3EO3;4ZHT;
length: 722
go: ENSG00000159921;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (UDP-GlcNAc-2-epimerase/ManAc kinase) [Includes: UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) (EC 3.2.1.183) (UDP-GlcNAc-2-epimerase) (Uridine diphosphate-N-acetylglucosamine-2-epimerase); N-acetylmannosamine kinase (EC 2.7.1.60) (ManAc kinase)]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; hydrolase activity, hydrolyzing O-glycosyl compounds [GO:0004553]; metal ion binding [GO:0046872]; N-acylmannosamine kinase activity [GO:0009384]; UDP-N-acetylglucosamine 2-epimerase activity [GO:0008761]; cell adhesion [GO:0007155]; N-acetylglucosamine biosynthetic process [GO:0006045]; N-acetylneuraminate metabolic process [GO:0006054]; UDP-N-acetylglucosamine metabolic process [GO:0006047]

snps:
rs769215411 rs121908634 rs139425890 rs539332585 rs369328625 rs766266918 rs779694939 rs121908630 rs121908629 rs773729410 rs121908623 rs121908622 rs121908621 rs121908633 rs199877522 rs121908631 rs764698870 rs986773986 rs886043979 rs121908632 rs121908625 rs748949603 rs387906347 rs121908626 rs62541771 rs1191857860 rs121908627 rs28937594 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=GNE1; IsoId=Q9Y223-1; Sequence=Displayed; Name=2; Synonyms=GNE2; IsoId=Q9Y223-2; Sequence=VSP_041027; Name=3; Synonyms=GNE3; IsoId=Q9Y223-3; Sequence=VSP_041028; Name=4; IsoId=Q9Y223-4; Sequence=VSP_043474; Name=5; IsoId=Q9Y223-5; Sequence=VSP_043975, VSP_043976; 


uniprotID: Q5VTD9
geneSymbol: GFI1B
length: 330
go: ENSG00000165702;
snps: rs761044764
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16688220}.
name:
Zinc finger protein Gfi-1b (Growth factor independent protein 1B) (Potential regulator of CDKN1A translocated in CML)

sequence:

opentargets:
nuclear matrix [GO:0016363]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II transcription factor binding [GO:0001085]; cell proliferation [GO:0008283]; chromatin organization [GO:0006325]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=p37; IsoId=Q5VTD9-1; Sequence=Displayed; Name=2; Synonyms=p32; IsoId=Q5VTD9-2; Sequence=VSP_028459; Note=Essential for erythroid differentiation. Binds to target gene promoters and associates with the LSD1-CoREST repressor complex more efficiently than the major isoform 1.; 


uniprotID: Q7L5D6
geneSymbol: GET4
pdb: 6AU8;
length: 327
go: ENSG00000239857;
name:
Golgi to ER traffic protein 4 homolog (Conserved edge-expressed protein) (Transmembrane domain recognition complex 35 kDa subunit) (TRC35)

sequence:

opentargets:
BAT3 complex [GO:0071818]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; chaperone binding [GO:0051087]; cytoplasmic sequestering of protein [GO:0051220]; maintenance of unfolded protein involved in ERAD pathway [GO:1904378]; protein insertion into ER membrane [GO:0045048]; tail-anchored membrane protein insertion into ER membrane [GO:0071816]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L5D6-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q7L5D6-2; Sequence=VSP_017652; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20676083, ECO:0000269|PubMed:21636303, ECO:0000269|PubMed:29042515}.


uniprotID: Q3B7J2
geneSymbol: GFOD2
name: Glucose-fructose oxidoreductase domain-containing protein 2 (EC 1.-.-.-)
length: 385
go: ENSG00000141098;
snps: rs11539687
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; oxidoreductase activity [GO:0016491]; extracellular matrix organization [GO:0030198]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3B7J2-1; Sequence=Displayed; Name=2; IsoId=Q3B7J2-2; Sequence=VSP_024262; Name=3; IsoId=Q3B7J2-3; Sequence=VSP_055185, VSP_055186; Note=No experimental confirmation available.; 


uniprotID: P33402
geneSymbol: GUCY1A2
reactome: R-HSA-392154;
name: Guanylate cyclase soluble subunit alpha-2 (GCS-alpha-2) (EC 4.6.1.2)
length: 732
go: ENSG00000152402;
drug: DB01020;DB09241;DB00435;DB13170;DB08931;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; GTP binding [GO:0005525]; guanylate cyclase activity [GO:0004383]; heme binding [GO:0020037]; intracellular signal transduction [GO:0035556]; positive regulation of nitric oxide mediated signal transduction [GO:0010750]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Alpha-2; IsoId=P33402-1; Sequence=Displayed; Name=2; Synonyms=Alpha-2-I; IsoId=P33402-2; Sequence=VSP_001814; Name=3; IsoId=P33402-3; Sequence=VSP_054154; Note=No experimental confirmation available.; 


uniprotID: Q96F15
geneSymbol: GIMAP5
length: 307
go: ENSG00000196329;
name:
GTPase IMAP family member 5 (Immunity-associated nucleotide 4-like 1 protein) (Immunity-associated nucleotide 5 protein) (IAN-5) (hIAN5) (Immunity-associated protein 3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; lysosome [GO:0005764]; mitochondrial outer membrane [GO:0005741]; GTP binding [GO:0005525]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96F15-1; Sequence=Displayed; Name=2; IsoId=Q96F15-2; Sequence=VSP_008961; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Lysosome {ECO:0000269|PubMed:14724691, ECO:0000269|PubMed:21487483}.


uniprotID: Q9BY60
geneSymbol: GABARAPL3
reactome: R-HSA-1632852;
length: 117
name:
Gamma-aminobutyric acid receptor-associated protein-like 3 (GABA(A) receptor-associated protein-like 3)

sequence:
MKFQYKEVHPFEYRKKEGEKIRKKYPDRVPLIVEKAPKARVPDLDRRKYLVPSDLTDGQFYLLIRKRIHLRPEDALFFFVNNTIPPTSATMGQLYEDSHEEDDFLYVAYSNESVYGK

opentargets:
autophagosome membrane [GO:0000421]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; microtubule [GO:0005874]; GABA receptor binding [GO:0050811]; autophagosome assembly [GO:0000045]; autophagy of mitochondrion [GO:0000422]; cellular response to nitrogen starvation [GO:0006995]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: O00591
geneSymbol: GABRP
name: Gamma-aminobutyric acid receptor subunit pi (GABA(A) receptor subunit pi)
length: 440
go: ENSG00000094755;
snps: rs1063310
sequence:

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

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


uniprotID: P28476
geneSymbol: GABRR2
reactome: R-HSA-977442;
name: Gamma-aminobutyric acid receptor subunit rho-2 (GABA(A) receptor subunit rho-2) (GABA(C) receptor)
length: 465
go: ENSG00000111886;
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; 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]; chloride channel activity [GO:0005254]; GABA-A receptor activity [GO:0004890]; protein domain specific binding [GO:0019904]; 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]; visual perception [GO:0007601]

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=P28476-1; Sequence=Displayed; Name=2; IsoId=P28476-2; Sequence=VSP_044373; Note=Isoform 2 could be translated from an upstream initiator ATG located in frame within the first coding exon. The probability of a signal peptide within this isoform is very low. No experimental confirmation available.; 


uniprotID: Q9HBQ8
geneSymbol: GOLGA2P5
name: Putative golgin subfamily A member 2B (Golgin subfamily A member 2-like protein 1)
length: 144
opentargets: Golgi apparatus [GO:0005794]
snps: rs12370675
sequence:
MDSEEEEEVPQPMPSIPEDLESQKAMVAFFNSAVASAEEEQARLCGQLKECTASAWLICWPRPRRNLRQQPQPQELGVIPCVGRPTRPCRGPWRSCGRVHRTVPEPEGSAEGGGVHQQAGPGQGRGEGEAAGAGVACGRLQQVA

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HBQ8-1; Sequence=Displayed; Name=2; IsoId=Q9HBQ8-2; Sequence=VSP_030454; 


uniprotID: Q14C86
geneSymbol: GAPVD1
reactome: R-HSA-8856828;R-HSA-8876198;
length: 1478
go: ENSG00000165219;
name:
GTPase-activating protein and VPS9 domain-containing protein 1 (GAPex-5) (Rab5-activating protein 6)

sequence:

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; membrane [GO:0016020]; cadherin binding [GO:0045296]; GTPase activating protein binding [GO:0032794]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; endocytosis [GO:0006897]; membrane organization [GO:0061024]; regulation of protein transport [GO:0051223]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q14C86-1; Sequence=Displayed; Name=2; IsoId=Q14C86-2; Sequence=VSP_032362; Name=3; IsoId=Q14C86-3; Sequence=VSP_032361, VSP_032362; Name=4; IsoId=Q14C86-4; Sequence=VSP_032358, VSP_032362; Name=5; IsoId=Q14C86-5; Sequence=VSP_032359; Name=6; IsoId=Q14C86-6; Sequence=VSP_032360, VSP_032362; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:16410077}; Peripheral membrane protein {ECO:0000269|PubMed:16410077}. Endosome {ECO:0000269|PubMed:16410077}. Note=Recruited to the plasma membrane by TRIP10/CIP4 in response to insulin.


uniprotID: Q5U4N7
geneSymbol: GDF5OS
name: Protein GDF5OS, mitochondrial (Growth/differentiation factor 5 opposite strand transcript protein)
length: 250
opentargets: mitochondrion [GO:0005739]
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:


uniprotID: Q8N2G8
geneSymbol: GHDC
reactome: R-HSA-6798695;
name: GH3 domain-containing protein
length: 530
go: ENSG00000167925;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; secretory granule lumen [GO:0034774]; specific granule lumen [GO:0035580]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N2G8-1; Sequence=Displayed; Name=2; IsoId=Q8N2G8-2; Sequence=VSP_010835, VSP_010836; Note=No experimental confirmation available.; Name=3; IsoId=Q8N2G8-3; Sequence=VSP_044831; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250|UniProtKB:Q99J23}. Nucleus envelope {ECO:0000250|UniProtKB:Q99J23}.


uniprotID: Q8WXD5
geneSymbol: GEMIN6
reactome: R-HSA-191859;
pdb: 1Y96;
name: Gem-associated protein 6 (Gemin-6) (SIP2)
length: 167
go: ENSG00000152147;
snps: rs1056104
sequence:
MSEWMKKGPLEWQDYIYKEVRVTASEKNEYKGWVLTTDPVSANIVLVNFLEDGSMSVTGIMGHAVQTVETMNEGDHRVREKLMHLFTSGDCKAYSPEDLEERKNSLKKWLEKNHIPITEQGDAPRTLCVAGVLTIDPPYGPENCSSSNEIILSRVQDLIEGHLTASQ

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Gemini of coiled bodies [GO:0097504]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; SMN complex [GO:0032797]; SMN-Sm protein complex [GO:0034719]; import into nucleus [GO:0051170]; mRNA splicing, via spliceosome [GO:0000398]; spliceosomal complex assembly [GO:0000245]; spliceosomal snRNP assembly [GO:0000387]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:11748230}. Nucleus, gem {ECO:0000269|PubMed:11748230}. Cytoplasm {ECO:0000269|PubMed:11748230}. Note=Found both in the nucleoplasm and in nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. Also found in the cytoplasm.


uniprotID: Q02742
geneSymbol: GCNT1
reactome: R-HSA-913709;
length: 428
go: ENSG00000187210;
snps: rs2282683 rs11546569
name:
Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.102) (Core 2-branching enzyme) (Core2-GlcNAc-transferase) (C2GNT) (Core 2 GNT)

sequence:

opentargets:
extracellular space [GO:0005615]; Golgi cisterna [GO:0031985]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; trans-Golgi network [GO:0005802]; beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity [GO:0003829]; cell adhesion molecule production [GO:0060352]; glycoprotein biosynthetic process [GO:0009101]; kidney morphogenesis [GO:0060993]; leukocyte tethering or rolling [GO:0050901]; O-glycan processing [GO:0016266]; response to insulin [GO:0032868]; tissue morphogenesis [GO:0048729]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:23027862}; Single-pass type II membrane protein {ECO:0000269|PubMed:23027862}. Note=Also detected in the trans-Golgi network.


uniprotID: Q6ZNW5
geneSymbol: GDPGP1
name: GDP-D-glucose phosphorylase 1 (EC 2.7.7.78)
length: 385
go: ENSG00000183208;
snps: rs7171194 rs10152994 rs10153004
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; GDP-D-glucose phosphorylase activity [GO:0080048]; guanyl-nucleotide exchange factor activity [GO:0005085]; hydrolase activity [GO:0016787]; nucleotide binding [GO:0000166]; nucleotidyltransferase activity [GO:0016779]; glucose metabolic process [GO:0006006]


uniprotID: O75223
geneSymbol: GGCT
reactome: R-HSA-174403;
pdb: 2I5T;2PN7;2Q53;2RBH;3CRY;
name: Gamma-glutamylcyclotransferase (EC 4.3.2.9) (Cytochrome c-releasing factor 21)
length: 188
go: ENSG00000006625;
sequence:
MANSGCKDVTGPDEESFLYFAYGSNLLTERIHLRNPSAAFFCVARLQDFKLDFGNSQGKTSQTWHGGIATIFQSPGDEVWGVVWKMNKSNLNSLDEQEGVKSGMYVVIEVKVATQEGKEITCRSYLMTNYESAPPSPQYKKIICMGAKENGLPLEYQEKLKAIEPNDYTGKVSEEIEDIIKKGETQTL

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; gamma-glutamylcyclotransferase activity [GO:0003839]; protein homodimerization activity [GO:0042803]; glutathione biosynthetic process [GO:0006750]; release of cytochrome c from mitochondria [GO:0001836]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75223-1; Sequence=Displayed; Name=2; IsoId=O75223-2; Sequence=VSP_035599, VSP_035600; Note=No experimental confirmation available.; Name=3; IsoId=O75223-3; Sequence=VSP_046463; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=4; IsoId=O75223-4; Sequence=VSP_046464; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9UEU5
geneSymbol: GAGE2D; GAGE8
name: G antigen 2D (GAGE-2D) (Cancer/testis antigen 4.8) (CT4.8) (G antigen 8) (GAGE-8)
length: 116
opentargets: cellular defense response [GO:0006968]
sequence:
MSWRGRSTYRPRPRRYVEPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEADSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGEKQSQC


uniprotID: A6NGU5
geneSymbol: GGT3P
reactome: R-HSA-174403;R-HSA-5423646;
length: 568
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
name:
Putative glutathione hydrolase 3 proenzyme (EC 3.4.19.13) (Gamma-glutamyltransferase 3) (Putative gamma-glutamyltranspeptidase 3) (GGT 3) (EC 2.3.2.2) [Cleaved into: Putative glutathione hydrolase 3 heavy chain; Putative glutathione hydrolase 3 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]; peptidyltransferase activity [GO:0000048]; cellular amino acid metabolic process [GO:0006520]; cysteine biosynthetic process [GO:0019344]; glutamate metabolic process [GO:0006536]; glutathione biosynthetic process [GO:0006750]; glutathione catabolic process [GO:0006751]; glutathione metabolic process [GO:0006749]; leukotriene D4 biosynthetic process [GO:1901750]; peptide modification [GO:0031179]; regulation of immune system process [GO:0002682]; regulation of inflammatory response [GO:0050727]; response to estradiol [GO:0032355]; response to lipopolysaccharide [GO:0032496]; response to tumor necrosis factor [GO:0034612]; spermatogenesis [GO:0007283]


uniprotID: Q8N1C3
geneSymbol: GABRG1
name: Gamma-aminobutyric acid receptor subunit gamma-1 (GABA(A) receptor subunit gamma-1)
length: 465
go: ENSG00000163285;
snps: rs17852913
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; dendrite membrane [GO:0032590]; GABA-A receptor complex [GO:1902711]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; postsynapse [GO:0098794]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; chloride channel activity [GO:0005254]; GABA receptor binding [GO:0050811]; GABA-A receptor activity [GO:0004890]; GABA-gated chloride ion channel activity [GO:0022851]; inhibitory extracellular ligand-gated ion channel activity [GO:0005237]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; gamma-aminobutyric acid signaling pathway [GO:0007214]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; regulation of postsynaptic membrane potential [GO:0060078]; signal transduction [GO:0007165]; synaptic transmission, GABAergic [GO:0051932]

drug:
DB00659;DB00546;DB06579;DB00404;DB00543;DB01558;DB00237;DB00241;DB00475;DB01594;DB00349;DB01068;DB00628;DB01559;DB01189;DB00829;DB00228;DB01049;DB01215;DB00402;DB00898;DB00189;DB00292;DB01567;DB01205;DB00690;DB01437;DB00801;DB01159;DB00753;DB01587;DB00186;DB00371;DB00463;DB01028;DB01107;DB00683;DB01595;DB00334;DB00842;DB00312;DB01708;DB01588;DB00794;DB00818;DB01589;DB01236;DB00306;DB00231;DB11582;DB00273;DB00897;


uniprotID: O00451
geneSymbol: GFRA2
reactome: R-HSA-419037;R-HSA-5673001;R-HSA-8853659;
pdb: 5MR4;5MR5;
length: 464
go: ENSG00000168546;
snps: rs1128397
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
name:
GDNF family receptor alpha-2 (GDNF receptor alpha-2) (GDNFR-alpha-2) (GFR-alpha-2) (GDNF receptor beta) (GDNFR-beta) (Neurturin receptor alpha) (NRTNR-alpha) (NTNR-alpha) (RET ligand 2) (TGF-beta-related neurotrophic factor receptor 2)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; external side of plasma membrane [GO:0009897]; extrinsic component of membrane [GO:0019898]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; glial cell-derived neurotrophic factor receptor activity [GO:0016167]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; axon guidance [GO:0007411]; MAPK cascade [GO:0000165]; nervous system development [GO:0007399]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=O00451-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O00451-2; Sequence=VSP_001661; Name=3; IsoId=O00451-3; Sequence=VSP_046112; Note=No experimental confirmation available.; 


uniprotID: P19440
geneSymbol: GGT1
reactome: R-HSA-174403;R-HSA-2142691;R-HSA-5423646;R-HSA-5579022;R-HSA-9035968;
pdb: 4GDX;4GG2;4Z9O;4ZBK;4ZC6;4ZCG;5V4Q;
length: 569
go: ENSG00000100031;
drug: DB00143;
snps: rs2330837 rs2330838 rs3895576 rs4049829 rs17004876 rs1062459
name:
Glutathione hydrolase 1 proenzyme (EC 3.4.19.13) (Gamma-glutamyltransferase 1) (Gamma-glutamyltranspeptidase 1) (GGT 1) (EC 2.3.2.2) (Leukotriene-C4 hydrolase) (EC 3.4.19.14) (CD antigen CD224) [Cleaved into: Glutathione hydrolase 1 heavy chain; Glutathione hydrolase 1 light chain]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; 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]; leukotriene D4 biosynthetic process [GO:1901750]; leukotriene metabolic process [GO:0006691]; peptide modification [GO:0031179]; proteolysis [GO:0006508]; regulation of immune system process [GO:0002682]; regulation of inflammatory response [GO:0050727]; response to estradiol [GO:0032355]; response to lipopolysaccharide [GO:0032496]; response to tumor necrosis factor [GO:0034612]; spermatogenesis [GO:0007283]; xenobiotic metabolic process [GO:0006805]; zymogen activation [GO:0031638]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Name=1; IsoId=P19440-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; IsoId=P19440-2; Sequence=VSP_001746, VSP_001747; Note=Produced by alternative splicing of isoform 1.; Name=3; IsoId=P19440-3; Sequence=VSP_008132; Note=Produced by alternative promoter usage.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23682772, ECO:0000269|PubMed:8095045}; Single-pass type II membrane protein {ECO:0000269|PubMed:23682772, ECO:0000269|PubMed:8095045}.


uniprotID: Q9GZZ7
geneSymbol: GFRA4
reactome: R-HSA-419037;R-HSA-5673001;R-HSA-8853659;
length: 299
go: ENSG00000125861;
name:
GDNF family receptor alpha-4 (GDNF receptor alpha-4) (GDNFR-alpha-4) (GFR-alpha-4) (Persephin receptor)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; glial cell-derived neurotrophic factor receptor activity [GO:0016167]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; axon guidance [GO:0007411]; MAPK cascade [GO:0000165]; negative regulation of ossification [GO:0030279]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=GFRalpha4b; IsoId=Q9GZZ7-1; Sequence=Displayed; Name=GFRalpha4a; IsoId=Q9GZZ7-2; Sequence=VSP_007223; Name=GFRalpha4c; IsoId=Q9GZZ7-3; Sequence=VSP_007224, VSP_007225; 

location:
SUBCELLULAR LOCATION: Isoform GFRalpha4a: Cell membrane; Lipid-anchor, GPI-anchor.; SUBCELLULAR LOCATION: Isoform GFRalpha4b: Cell membrane; Lipid-anchor, GPI-anchor.; SUBCELLULAR LOCATION: Isoform GFRalpha4c: Secreted.


uniprotID: Q14397
geneSymbol: GCKR
reactome: R-HSA-170822;R-HSA-5619107;
pdb: 4BB9;4BBA;4LY9;4MQU;4MRO;4MSU;4OHK;4OHM;4OHO;4OHP;4OLH;4OP1;4OP2;4OP3;4PX2;4PX3;4PX5;4PXS;
name: Glucokinase regulatory protein (GKRP) (Glucokinase regulator)
length: 625
go: ENSG00000084734;
snps: rs8179206 rs8179212 rs1260326 rs8179249
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; carbohydrate binding [GO:0030246]; enzyme binding [GO:0019899]; enzyme inhibitor activity [GO:0004857]; fructose-6-phosphate binding [GO:0070095]; carbohydrate derivative metabolic process [GO:1901135]; carbohydrate metabolic process [GO:0005975]; negative regulation of glucokinase activity [GO:0033132]; protein import into nucleus, translocation [GO:0000060]; regulation of glycolytic process [GO:0006110]; response to fructose [GO:0009750]; triglyceride homeostasis [GO:0070328]; urate metabolic process [GO:0046415]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14397-1; Sequence=Displayed; Name=2; IsoId=Q14397-2; Sequence=VSP_054853, VSP_054854; Note=No experimental confirmation available.; 

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


uniprotID: P06396
geneSymbol: GSN
reactome: R-HSA-264870;R-HSA-6798695;R-HSA-977225;
name: Gelsolin (AGEL) (Actin-depolymerizing factor) (ADF) (Brevin)
length: 782
go: ENSG00000148180;
drug: DB02621;
snps: rs2230287 rs121909715 rs121909715 rs11550199 rs9696578
pdb:
1C0F;1C0G;1D4X;1DEJ;1EQY;1ESV;1H1V;1KCQ;1MDU;1NLV;1NM1;1NMD;1P8X;1P8Z;1SOL;1T44;1YAG;1YVN;2FF3;2FF6;2FH1;2FH2;2FH3;2FH4;3A5L;3A5M;3A5N;3A5O;3CI5;3CIP;3CJB;3CJC;3FFK;3FFN;3TU5;4PKG;4PKH;4PKI;4S10;4Z94;5DD2;5FAE;5FAF;5H3M;5H3N;5O2Z;5UBO;

sequence:

opentargets:
actin cap [GO:0030478]; actin cytoskeleton [GO:0015629]; blood microparticle [GO:0072562]; cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; myelin sheath [GO:0043209]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; podosome [GO:0002102]; ruffle [GO:0001726]; sarcoplasm [GO:0016528]; secretory granule lumen [GO:0034774]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; myosin II binding [GO:0045159]; actin filament capping [GO:0051693]; actin filament polymerization [GO:0030041]; actin filament reorganization [GO:0090527]; actin filament severing [GO:0051014]; actin nucleation [GO:0045010]; aging [GO:0007568]; amyloid fibril formation [GO:1990000]; barbed-end actin filament capping [GO:0051016]; cellular protein metabolic process [GO:0044267]; cellular response to cadmium ion [GO:0071276]; cellular response to interferon-gamma [GO:0071346]; cilium assembly [GO:0060271]; hepatocyte apoptotic process [GO:0097284]; negative regulation of viral entry into host cell [GO:0046597]; neutrophil degranulation [GO:0043312]; oligodendrocyte development [GO:0014003]; phagocytosis, engulfment [GO:0006911]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of actin nucleation [GO:0051127]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:2001269]; positive regulation of gene expression [GO:0010628]; positive regulation of keratinocyte apoptotic process [GO:1902174]; positive regulation of protein processing in phagocytic vesicle [GO:1903923]; protein destabilization [GO:0031648]; regulation of cell adhesion [GO:0030155]; regulation of establishment of T cell polarity [GO:1903903]; regulation of plasma membrane raft polarization [GO:1903906]; regulation of podosome assembly [GO:0071801]; regulation of receptor clustering [GO:1903909]; renal protein absorption [GO:0097017]; response to ethanol [GO:0045471]; response to folic acid [GO:0051593]; sequestering of actin monomers [GO:0042989]; striated muscle atrophy [GO:0014891]; tissue regeneration [GO:0042246]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=1; Synonyms=Secreted, Plasma; IsoId=P06396-1; Sequence=Displayed; Name=2; Synonyms=Cytoplasmic; IsoId=P06396-2; Sequence=VSP_018959; Name=3; IsoId=P06396-3; Sequence=VSP_042879; Name=4; IsoId=P06396-4; Sequence=VSP_054791; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytoskeleton.; SUBCELLULAR LOCATION: Isoform 1: Secreted.


uniprotID: Q9BVM4
geneSymbol: GGACT
pdb: 3JUB;3JUC;3JUD;
length: 153
go: ENSG00000134864;
drug: DB01942;
name:
Gamma-glutamylaminecyclotransferase (GGACT) (EC 4.3.2.8) (AIG2-like domain-containing protein 1) (Gamma-glutamylamine cyclotransferase)

sequence:
MALVFVYGTLKRGQPNHRVLRDGAHGSAAFRARGRTLEPYPLVIAGEHNIPWLLHLPGSGRLVEGEVYAVDERMLRFLDDFESCPALYQRTVLRVQLLEDRAPGAEEPPAPTAVQCFVYSRATFPPEWAQLPHHDSYDSEGPHGLRYNPRENR

opentargets:
extracellular exosome [GO:0070062]; gamma-glutamylaminecyclotransferase activity [GO:0061929]; cellular modified amino acid catabolic process [GO:0042219]


