# annotation

uniprotID: Q14749
geneSymbol: GNMT
reactome: R-HSA-2408508;R-HSA-389661;
pdb: 1R74;2AZT;
name: Glycine N-methyltransferase (EC 2.1.1.20)
length: 295
go: ENSG00000124713;
drug: DB04272;DB00145;DB01752;DB00118;
snps: rs121907888 rs864321678 rs121907889
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; folic acid binding [GO:0005542]; glycine binding [GO:0016594]; glycine N-methyltransferase activity [GO:0017174]; identical protein binding [GO:0042802]; cellular nitrogen compound metabolic process [GO:0034641]; cellular protein modification process [GO:0006464]; glycogen metabolic process [GO:0005977]; methionine metabolic process [GO:0006555]; one-carbon metabolic process [GO:0006730]; protein homotetramerization [GO:0051289]; regulation of gluconeogenesis [GO:0006111]; S-adenosylmethionine metabolic process [GO:0046500]


uniprotID: Q96P88
geneSymbol: GNRHR2
reactome: R-HSA-375281;R-HSA-416476;
length: 292
drug: DB01406;DB00644;DB00666;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Putative gonadotropin-releasing hormone II receptor (GnRH II receptor) (GnRH-II-R) (Type II GnRH receptor)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; gonadotropin-releasing hormone receptor activity [GO:0004968]; cellular response to hormone stimulus [GO:0032870]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q8TDQ7
geneSymbol: GNPDA2
reactome: R-HSA-70171;
length: 276
go: ENSG00000163281;
snps: rs17851302
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Glucosamine-6-phosphate isomerase 2 (EC 3.5.99.6) (Glucosamine-6-phosphate deaminase 2) (GNPDA 2) (GlcN6P deaminase 2) (Glucosamine-6-phosphate isomerase SB52)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; glucosamine-6-phosphate deaminase activity [GO:0004342]; identical protein binding [GO:0042802]; carbohydrate metabolic process [GO:0005975]; glucosamine catabolic process [GO:0006043]; N-acetylglucosamine catabolic process [GO:0006046]; N-acetylneuraminate catabolic process [GO:0019262]; UDP-N-acetylglucosamine biosynthetic process [GO:0006048]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8TDQ7-1; Sequence=Displayed; Name=2; IsoId=Q8TDQ7-2; Sequence=VSP_034579; Name=3; IsoId=Q8TDQ7-3; Sequence=VSP_034580; Name=4; IsoId=Q8TDQ7-4; Sequence=VSP_047033; Name=5; IsoId=Q8TDQ7-5; Sequence=VSP_047034; 


uniprotID: A6NDK9
geneSymbol: GOLGA6C
name: Golgin subfamily A member 6C
length: 693
sequence:

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


uniprotID: Q5T6J7
geneSymbol: IDNK
name: Probable gluconokinase (EC 2.7.1.12) (Gluconate kinase)
length: 187
go: ENSG00000148057;
snps: rs1052690
sequence:
MAAPGALLVMGVSGSGKSTVGALLASELGWKFYDADDYHPEENRRKMGKGIPLNDQDRIPWLCNLHDILLRDVASGQRVVLACSALKKTYRDILTQGKDGVALKCEESGKEAKQAEMQLLVVHLSGSFEVISGRLLKREGHFMPPELLQSQFETLEPPAAPENFIQISVDKNVSEIIATIMETLKMK

opentargets:
ATP binding [GO:0005524]; gluconokinase activity [GO:0046316]; D-gluconate catabolic process [GO:0046177]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T6J7-1; Sequence=Displayed; Name=2; IsoId=Q5T6J7-2; Sequence=VSP_032736; Note=No experimental confirmation available.; Name=3; IsoId=Q5T6J7-3; Sequence=VSP_032735; Note=No experimental confirmation available.; 


uniprotID: A6NMD2
geneSymbol: GOLGA8J
name: Golgin subfamily A member 8J
length: 632
sequence:


uniprotID: O14775
geneSymbol: GNB5
name: Guanine nucleotide-binding protein subunit beta-5 (Gbeta5) (Transducin beta chain 5)
length: 395
go: ENSG00000069966;
snps: rs761399728 rs34637551
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:P62881}.
reactome:
R-HSA-202040;R-HSA-2514859;R-HSA-381676;R-HSA-392170;R-HSA-392451;R-HSA-392851;R-HSA-400042;R-HSA-4086398;R-HSA-416476;R-HSA-416482;R-HSA-418217;R-HSA-418555;R-HSA-418592;R-HSA-418594;R-HSA-418597;R-HSA-420092;R-HSA-428930;R-HSA-432040;R-HSA-456926;R-HSA-500657;R-HSA-6814122;

sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator complex [GO:1902773]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; chaperone binding [GO:0051087]; G-protein gamma-subunit binding [GO:0031682]; GTPase activator activity [GO:0005096]; GTPase activity [GO:0003924]; dopamine receptor signaling pathway [GO:0007212]; negative regulation of voltage-gated calcium channel activity [GO:1901386]; positive regulation of GTPase activity [GO:0043547]; protein folding [GO:0006457]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long, Beta-5L; IsoId=O14775-1; Sequence=Displayed; Name=2; IsoId=O14775-2; Sequence=VSP_008765; Name=3; IsoId=O14775-3; Sequence=VSP_008765, VSP_039101; 


uniprotID: Q9UJJ9
geneSymbol: GNPTG
length: 305
go: ENSG00000090581;
snps: rs137853826 rs137852885 rs775359476 rs137853827 rs193302860
name:
N-acetylglucosamine-1-phosphotransferase subunit gamma (GlcNAc-1-phosphotransferase subunit gamma) (UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; protein homodimerization activity [GO:0042803]; UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [GO:0003976]; carbohydrate phosphorylation [GO:0046835]; N-glycan processing to lysosome [GO:0016256]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15532026}. Golgi apparatus {ECO:0000269|PubMed:15532026, ECO:0000269|PubMed:26108976, ECO:0000269|PubMed:27038293}.


uniprotID: Q14789
geneSymbol: GOLGB1
reactome: R-HSA-432722;R-HSA-6807878;
length: 3259
go: ENSG00000173230;
snps: rs3732407 rs3732410 rs33988592 rs35674179 rs1127412
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type I membrane protein.
name:
Golgin subfamily B member 1 (372 kDa Golgi complex-associated protein) (GCP372) (Giantin) (Macrogolgin)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; DNA-binding transcription factor activity [GO:0003700]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; protein localization to pericentriolar material [GO:1905793]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q14789-1; Sequence=Displayed; Name=2; IsoId=Q14789-2; Sequence=VSP_045567, VSP_045568; Note=No experimental confirmation available.; Name=3; IsoId=Q14789-3; Sequence=VSP_057417, VSP_045567; Name=4; IsoId=Q14789-4; Sequence=VSP_057417, VSP_057418; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; 


uniprotID: O00461
geneSymbol: GOLIM4
reactome: R-HSA-6811438;
length: 696
go: ENSG00000173905;
name:
Golgi integral membrane protein 4 (Golgi integral membrane protein, cis) (GIMPc) (Golgi phosphoprotein 4) (Golgi-localized phosphoprotein of 130 kDa) (Golgi phosphoprotein of 130 kDa)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; endocytic vesicle [GO:0030139]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi lumen [GO:0005796]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; transport vesicle [GO:0030133]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Endosome membrane; Single-pass type II membrane protein. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=Localizes to cis and medial Golgi cisternae. Probably cycles between early Golgi and distal compartments like endosome.


uniprotID: O43555
geneSymbol: GNRH2
reactome: R-HSA-375281;R-HSA-416476;
length: 120
go: ENSG00000125787;
snps: rs6051545
location: SUBCELLULAR LOCATION: Secreted.
name:
Progonadoliberin-2 (Progonadoliberin II) [Cleaved into: Gonadoliberin-2 (Gonadoliberin II) (Gonadotropin-releasing hormone II) (GnRH II) (Luliberin II) (Luteinizing hormone-releasing hormone II) (LH-RH II); GnRH-associated peptide 2 (GnRH-associated peptide II)]

sequence:
MASSRRGLLLLLLLTAHLGPSEAQHWSHGWYPGGKRALSSAQDPQNALRPPGRALDTAAGSPVQTAHGLPSDALAPLDDSMPWEGRTTAQWSLHRKRHLARTLLTAAREPRPAPPSSNKV

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; gonadotropin hormone-releasing hormone activity [GO:0005183]; gonadotropin-releasing hormone receptor binding [GO:0031530]; hormone activity [GO:0005179]; G protein-coupled receptor signaling pathway [GO:0007186]; multicellular organism development [GO:0007275]; reproduction [GO:0000003]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=O43555-1; Sequence=Displayed; Name=2; IsoId=O43555-2; Sequence=VSP_001825; Name=3; IsoId=O43555-3; Sequence=VSP_001826; 


uniprotID: P20042
geneSymbol: EIF2S2
reactome: R-HSA-156827;R-HSA-382556;R-HSA-72649;R-HSA-72695;R-HSA-72702;R-HSA-72706;R-HSA-72731;
length: 333
go: ENSG00000125977;
snps: rs17856024
name:
Eukaryotic translation initiation factor 2 subunit 2 (Eukaryotic translation initiation factor 2 subunit beta) (eIF-2-beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation initiation factor 2 complex [GO:0005850]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; in utero embryonic development [GO:0001701]; male germ cell proliferation [GO:0002176]; male gonad development [GO:0008584]; translational initiation [GO:0006413]; transmembrane transport [GO:0055085]


uniprotID: Q9UNW8
geneSymbol: GPR132
reactome: R-HSA-373076;R-HSA-416476;
name: Probable G-protein coupled receptor 132 (G2 accumulation protein)
length: 380
go: ENSG00000183484;
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=G2A-a; IsoId=Q9UNW8-1; Sequence=Displayed; Name=2; IsoId=Q9UNW8-2; Sequence=VSP_008404; Name=3; Synonyms=G2A-b; IsoId=Q9UNW8-3; Sequence=VSP_054592; Note=More abundant than isoform 1 in leukocytes by approximately 3-fold.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Internalized and accumulated in endosomal compartments. LPC triggers the relocalization from the endosomal compartment to the cell surface (By similarity). {ECO:0000250}.


uniprotID: Q8IZ08
geneSymbol: GPR135
name: G-protein coupled receptor 135
length: 494
go: ENSG00000181619;
snps: rs1752428 rs1752427
sequence:

opentargets:
endosome [GO:0005768]; endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; arrestin family protein binding [GO:1990763]; G protein-coupled receptor activity [GO:0004930]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28827538}; Multi-pass membrane protein {ECO:0000255}. Endosome membrane {ECO:0000269|PubMed:28827538}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalizes with ARRB2/beta-arrestin-2 in the endosome. {ECO:0000269|PubMed:28827538}.


uniprotID: Q6DWJ6
geneSymbol: GPR139
length: 353
go: ENSG00000180269;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Probable G-protein coupled receptor 139 (G(q)-coupled orphan receptor GPRg1) (G-protein-coupled receptor PGR3)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; neuropeptide receptor activity [GO:0008188]; protein dimerization activity [GO:0046983]; G protein-coupled receptor signaling pathway [GO:0007186]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]


uniprotID: Q5T7V8
geneSymbol: GORAB
length: 394
go: ENSG00000120370;
snps: rs913257
name:
RAB6-interacting golgin (N-terminal kinase-like-binding protein 1) (NTKL-BP1) (NTKL-binding protein 1) (hNTKL-BP1) (SCY1-like 1-binding protein 1) (SCYL1-BP1) (SCYL1-binding protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; hair follicle morphogenesis [GO:0031069]; non-motile cilium assembly [GO:1905515]; positive regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:1901622]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5T7V8-1; Sequence=Displayed; Name=2; IsoId=Q5T7V8-2; Sequence=VSP_020978; Name=3; IsoId=Q5T7V8-3; Sequence=VSP_020976; Name=4; IsoId=Q5T7V8-4; Sequence=VSP_020977; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15781263}. Golgi apparatus {ECO:0000269|PubMed:18997784}.


uniprotID: Q9BQQ3
geneSymbol: GORASP1
reactome: R-HSA-162658;R-HSA-204005;R-HSA-6807878;
pdb: 4REY;
length: 440
go: ENSG00000114745;
snps: rs1109643
name:
Golgi reassembly-stacking protein 1 (Golgi peripheral membrane protein p65) (Golgi phosphoprotein 5) (GOLPH5) (Golgi reassembly-stacking protein of 65 kDa) (GRASP65)

sequence:

opentargets:
endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; metal ion binding [GO:0046872]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; negative regulation of dendrite morphogenesis [GO:0050774]; positive regulation of ubiquitin protein ligase activity [GO:1904668]; protein N-linked glycosylation [GO:0006487]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BQQ3-1; Sequence=Displayed; Name=2; IsoId=Q9BQQ3-2; Sequence=VSP_011307; Note=No experimental confirmation available.; Name=3; IsoId=Q9BQQ3-3; Sequence=VSP_011306, VSP_011308, VSP_011309; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:11781572}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:11781572}.


uniprotID: Q8TDV2
geneSymbol: GPR148
length: 347
go: ENSG00000173302;
snps: rs272128
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Probable G-protein coupled receptor 148 (Brain and testis restricted GPCR) (G-protein coupled receptor PGR6)

sequence:

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


uniprotID: Q8N6U8
geneSymbol: GPR161
reactome: R-HSA-5610787;R-HSA-5632684;
name: G-protein coupled receptor 161 (G-protein coupled receptor RE2)
length: 529
go: ENSG00000143147;
sequence:

opentargets:
ciliary membrane [GO:0060170]; cilium [GO:0005929]; endocytic vesicle membrane [GO:0030666]; integral component of membrane [GO:0016021]; recycling endosome [GO:0055037]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; multicellular organism development [GO:0007275]; negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:1901621]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8N6U8-1; Sequence=Displayed; Name=2; IsoId=Q8N6U8-2; Sequence=VSP_010560, VSP_010561; Note=No experimental confirmation available.; Name=3; IsoId=Q8N6U8-3; Sequence=VSP_035561; Note=No experimental confirmation available.; Name=4; IsoId=Q8N6U8-4; Sequence=VSP_044778, VSP_044779; Note=No experimental confirmation available.; Name=5; IsoId=Q8N6U8-5; Sequence=VSP_045329; Name=6; IsoId=Q8N6U8-6; Sequence=VSP_046299; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Mainly localizes to primary cilium in a TULP3 and IFT-A complex-dependent manner. In presence of SHH, it is removed from primary cilia and is internalized into recycling endosomes and is apparently not degraded (By similarity). {ECO:0000250}.


uniprotID: Q16538
geneSymbol: GPR162
name: Probable G-protein coupled receptor 162 (Gene-rich cluster gene A protein)
length: 588
go: ENSG00000250510;
snps: rs11612427
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A-2; IsoId=Q16538-1; Sequence=Displayed; Name=2; Synonyms=A-1; IsoId=Q16538-2; Sequence=VSP_016302, VSP_016303; 


uniprotID: Q9NPR9
geneSymbol: GPR108
name: Protein GPR108 (Lung seven transmembrane receptor 2)
length: 543
opentargets: integral component of membrane [GO:0016021]
snps: rs340138 rs4807897
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P0CG08
geneSymbol: GPR89B
name: Golgi pH regulator B (Protein GPR89B)
length: 455
sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; voltage-gated anion channel activity [GO:0008308]; intracellular pH reduction [GO:0051452]; protein transport [GO:0015031]; regulation of ion transmembrane transport [GO:0034765]

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


uniprotID: P38919
geneSymbol: EIF4A3
pdb: 2HXY;2HYI;2J0Q;2J0S;2J0U;2XB2;3EX7;4C9B;5MQF;5XJC;5YZG;
length: 411
go: ENSG00000141543;
snps: rs587777204
reactome:
R-HSA-109688;R-HSA-1169408;R-HSA-159236;R-HSA-429947;R-HSA-72163;R-HSA-72187;R-HSA-9010553;R-HSA-975957;

name:
Eukaryotic initiation factor 4A-III (eIF-4A-III) (eIF4A-III) (EC 3.6.4.13) (ATP-dependent RNA helicase DDX48) (ATP-dependent RNA helicase eIF4A-3) (DEAD box protein 48) (Eukaryotic initiation factor 4A-like NUK-34) (Eukaryotic translation initiation factor 4A isoform 3) (Nuclear matrix protein 265) (NMP 265) (hNMP 265) [Cleaved into: Eukaryotic initiation factor 4A-III, N-terminally processed]

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; exon-exon junction complex [GO:0035145]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; postsynaptic cytosol [GO:0099524]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; mRNA binding [GO:0003729]; poly(A) binding [GO:0008143]; ribonucleoprotein complex binding [GO:0043021]; RNA binding [GO:0003723]; RNA stem-loop binding [GO:0035613]; selenocysteine insertion sequence binding [GO:0035368]; translation regulator activity [GO:0045182]; associative learning [GO:0008306]; cellular response to brain-derived neurotrophic factor stimulus [GO:1990416]; cellular response to selenite ion [GO:0072715]; embryonic cranial skeleton morphogenesis [GO:0048701]; exploration behavior [GO:0035640]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of excitatory postsynaptic potential [GO:0090394]; negative regulation of selenocysteine incorporation [GO:1904570]; negative regulation of selenocysteine insertion sequence binding [GO:1904574]; negative regulation of translation [GO:0017148]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of translation [GO:0045727]; regulation of translation at postsynapse, modulating synaptic transmission [GO:0099578]; response to organic cyclic compound [GO:0014070]; RNA export from nucleus [GO:0006405]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:22961380, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}. Nucleus speckle {ECO:0000269|PubMed:10623621}. Cytoplasm {ECO:0000250|UniProtKB:Q3B8Q2}. Note=Nucleocytoplasmic shuttling protein. Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. Detected in dendritic layer as well as the nuclear and cytoplasmic (somatic) compartments of neurons. Colocalizes with STAU1 and FMR1 in dendrites (By similarity). {ECO:0000250|UniProtKB:Q3B8Q2}.


uniprotID: P51674
geneSymbol: GPM6A
name: Neuronal membrane glycoprotein M6-a (M6a)
length: 278
go: ENSG00000150625;
snps: rs1049820
sequence:

opentargets:
axonal growth cone [GO:0044295]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; filopodium [GO:0030175]; glutamatergic synapse [GO:0098978]; integral component of presynaptic active zone membrane [GO:0099059]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; calcium channel activity [GO:0005262]; neural retina development [GO:0003407]; neuron migration [GO:0001764]; neuron projection morphogenesis [GO:0048812]; positive regulation of filopodium assembly [GO:0051491]; regulation of synapse organization [GO:0050807]; response to bacterium [GO:0009617]; stem cell differentiation [GO:0048863]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P51674-1; Sequence=Displayed; Name=2; IsoId=P51674-2; Sequence=VSP_045109; Name=3; IsoId=P51674-3; Sequence=VSP_046098; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell projection, axon {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Cell projection, filopodium {ECO:0000250}. Note=Localizes to cholesterol-rich lipid rafts of the plasma membrane of hippocampal neurons. Localized to plasma membrane of cell bodies and neurites of hippocampal neurons. Localized in membrane protrusions (filopodia and spines) of primary hippocampal neurons. Localized to the growth cone edge membrane of elongating axons (By similarity). {ECO:0000250}.


uniprotID: Q13491
geneSymbol: GPM6B
name: Neuronal membrane glycoprotein M6-b (M6b)
length: 265
go: ENSG00000046653;
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; cell differentiation [GO:0030154]; extracellular matrix assembly [GO:0085029]; negative regulation of protein localization to cell surface [GO:2000009]; negative regulation of serotonin uptake [GO:0051612]; nervous system development [GO:0007399]; ossification [GO:0001503]; positive regulation of bone mineralization [GO:0030501]; protein transport [GO:0015031]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of focal adhesion assembly [GO:0051893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=A; IsoId=Q13491-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q13491-2; Sequence=VSP_003326; Name=3; IsoId=Q13491-3; Sequence=VSP_041121; Name=4; IsoId=Q13491-4; Sequence=VSP_041121, VSP_043247; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Colocalizes with SERT at the plasma membrane. {ECO:0000250}.


uniprotID: Q86YW7
geneSymbol: GPHB5
reactome: R-HSA-375281;R-HSA-418555;
name: Glycoprotein hormone beta-5 (Thyrostimulin subunit beta)
length: 130
go: ENSG00000179600;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKLAFLFLGPMALLLLAGYGCVLGASSGNLRTFVGCAVREFTFLAKKPGCRGLRITTDACWGRCETWEKPILEPPYIEAHHRVCTYNETKQVTVKLPNCAPGVDPFYTYPVAIRCDCGACSTATTECETI

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; hormone activity [GO:0005179]; protein heterodimerization activity [GO:0046982]; thyrotropin-releasing hormone receptor binding [GO:0031531]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; G protein-coupled receptor signaling pathway [GO:0007186]; hormone-mediated signaling pathway [GO:0009755]; regulation of thyroid hormone mediated signaling pathway [GO:0002155]


uniprotID: P23588
geneSymbol: EIF4B
reactome: R-HSA-156827;R-HSA-166208;R-HSA-429947;R-HSA-72649;R-HSA-72662;R-HSA-72702;R-HSA-72706;
pdb: 1WI8;2J76;6FEC;
name: Eukaryotic translation initiation factor 4B (eIF-4B)
length: 611
go: ENSG00000063046;
sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic translation initiation factor 4F complex [GO:0016281]; polysome [GO:0005844]; helicase activity [GO:0004386]; ribosomal small subunit binding [GO:0043024]; RNA binding [GO:0003723]; RNA strand annealing activity [GO:0033592]; RNA strand-exchange activity [GO:0034057]; translation initiation factor activity [GO:0003743]; cytoplasmic translation [GO:0002181]; eukaryotic translation initiation factor 4F complex assembly [GO:0097010]; formation of translation preinitiation complex [GO:0001731]; regulation of translational initiation [GO:0006446]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P23588-1; Sequence=Displayed; Name=2; IsoId=P23588-2; Sequence=VSP_057351; Note=No experimental confirmation available.; 


uniprotID: P06730
geneSymbol: EIF4E
length: 217
go: ENSG00000151247;
drug: DB01649;DB02716;DB01960;DB05165;
location: SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:20616046}. Cytoplasm {ECO:0000250}.
reactome:
R-HSA-1169408;R-HSA-156827;R-HSA-159227;R-HSA-159230;R-HSA-159231;R-HSA-166208;R-HSA-429947;R-HSA-72649;R-HSA-72662;R-HSA-72702;R-HSA-72706;

pdb:
1IPB;1IPC;1WKW;2GPQ;2V8W;2V8X;2V8Y;2W97;3AM7;3TF2;3U7X;4AZA;4BEA;4DT6;4DUM;4TPW;4TQB;4TQC;4UED;5EHC;5EI3;5EIR;5EKV;5GW6;5T46;

name:
Eukaryotic translation initiation factor 4E (eIF-4E) (eIF4E) (eIF-4F 25 kDa subunit) (mRNA cap-binding protein)

sequence:

opentargets:
chromatoid body [GO:0033391]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; eukaryotic translation initiation factor 4F complex [GO:0016281]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; mRNA cap binding complex [GO:0005845]; P-body [GO:0000932]; perinuclear region of cytoplasm [GO:0048471]; postsynaptic cytosol [GO:0099524]; RISC complex [GO:0016442]; enzyme binding [GO:0019899]; eukaryotic initiation factor 4G binding [GO:0031370]; repressing transcription factor binding [GO:0070491]; RNA 7-methylguanosine cap binding [GO:0000340]; RNA binding [GO:0003723]; RNA cap binding [GO:0000339]; translation initiation factor activity [GO:0003743]; translation regulator activity [GO:0045182]; behavioral fear response [GO:0001662]; cellular response to dexamethasone stimulus [GO:0071549]; G1/S transition of mitotic cell cycle [GO:0000082]; lung development [GO:0030324]; mRNA export from nucleus [GO:0006406]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of translation [GO:0017148]; positive regulation of mitotic cell cycle [GO:0045931]; regulation of translation [GO:0006417]; regulation of translation at postsynapse, modulating synaptic transmission [GO:0099578]; RNA export from nucleus [GO:0006405]; stem cell population maintenance [GO:0019827]; translational initiation [GO:0006413]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P06730-1; Sequence=Displayed; Name=2; IsoId=P06730-2; Sequence=VSP_042014; Note=No experimental confirmation available.; Name=3; IsoId=P06730-3; Sequence=VSP_043591; Note=No experimental confirmation available.; 


uniprotID: Q14956
geneSymbol: GPNMB
reactome: R-HSA-8857538;
name: Transmembrane glycoprotein NMB (Hematopoietic growth factor inducible neurokinin-1 type)
length: 572
go: ENSG00000136235;
snps: rs755767733 rs530436 rs530413 rs35499907 rs35363287 rs35878037
sequence:

opentargets:
early endosome membrane [GO:0031901]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; melanosome membrane [GO:0033162]; plasma membrane [GO:0005886]; chemoattractant activity [GO:0042056]; heparin binding [GO:0008201]; integrin binding [GO:0005178]; receptor ligand activity [GO:0048018]; syndecan binding [GO:0045545]; bone mineralization [GO:0030282]; cell adhesion [GO:0007155]; cell-cell signaling [GO:0007267]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cytokine production [GO:0001818]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of neuron death [GO:1901215]; negative regulation of T cell activation [GO:0050868]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of tumor necrosis factor production [GO:0032720]; osteoblast differentiation [GO:0001649]; positive chemotaxis [GO:0050918]; positive regulation of cell migration [GO:0030335]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of protein autophosphorylation [GO:0031954]; positive regulation of protein phosphorylation [GO:0001934]; regulation of angiogenesis [GO:0045765]; regulation of tissue remodeling [GO:0034103]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14956-1; Sequence=Displayed; Name=2; IsoId=Q14956-2; Sequence=VSP_013001; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein {ECO:0000269|PubMed:16489096, ECO:0000269|PubMed:16609006}. Melanosome membrane {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}; Single-pass type I membrane protein {ECO:0000305}. Early endosome membrane {ECO:0000269|PubMed:29336782}; Single-pass type I membrane protein {ECO:0000305}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:17081065}.


uniprotID: K9M1U5
geneSymbol: IFNL4
name: Interferon lambda-4 (IFN-lambda-4)
length: 179
sequence:
MRPSVWAAVAAGLWVLCTVIAAAPRRCLLSHYRSLEPRTLAAAKALRDRYEEEALSWGQRNCSFRPRRDPPRPSSCARLRHVARGIADAQAVLSGLHRSELLPGAGPILELLAAAGRDVAACLELARPGSSRKVPGAQKRRHKPRRADSPRCRKASVVFNLLRLLTWELRLAAHSGPCL

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; signaling receptor binding [GO:0005102]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; positive regulation of immune response [GO:0050778]; tyrosine phosphorylation of STAT protein [GO:0007260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist. However, they may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=1; Synonyms=IFNL4, p179; IsoId=K9M1U5-1; Sequence=Displayed; Note=Active form which is able to induce an antiviral response and prevent hepatitis C virus (HCV) replication in cell cultures.; Name=2; Synonyms=p170; IsoId=K9M1U5-2; Sequence=VSP_046394; Note=Inactive form.; Name=3; Synonyms=p131; IsoId=K9M1U5-3; Sequence=VSP_046393; Note=Inactive form unable to elicit an antiviral response.; Name=4; Synonyms=p107; IsoId=K9M1U5-4; Sequence=VSP_046392; Note=Inactive form unable to elicit an antiviral response.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23291588}. Secreted {ECO:0000269|PubMed:23291588}.


uniprotID: O00458
geneSymbol: IFRD1
name: Interferon-related developmental regulator 1 (Nerve growth factor-inducible protein PC4)
length: 451
go: ENSG00000006652;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; muscle cell differentiation [GO:0042692]; myoblast fate determination [GO:0007518]; negative regulation of axon extension [GO:0030517]; negative regulation of collateral sprouting [GO:0048671]; skeletal muscle tissue regeneration [GO:0043403]; striated muscle tissue development [GO:0014706]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00458-1; Sequence=Displayed; Name=2; IsoId=O00458-2; Sequence=VSP_044304; 


uniprotID: Q12894
geneSymbol: IFRD2
name: Interferon-related developmental regulator 2 (Protein SKMC15)
length: 506
go: ENSG00000214706;
opentargets: nucleus [GO:0005634]
snps: rs2229648
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12894-1; Sequence=Displayed; Name=2; IsoId=Q12894-2; Sequence=VSP_057033; 


uniprotID: Q5T764
geneSymbol: IFIT1B
length: 474
go: ENSG00000204010;
opentargets: cytosol [GO:0005829]; RNA binding [GO:0003723]; defense response to virus [GO:0051607]
snps: rs7072728
name:
Interferon-induced protein with tetratricopeptide repeats 1B (Interferon-induced protein with tetratricopeptide repeats 1-like protein)

sequence:


uniprotID: Q9H7X7
geneSymbol: IFT22
reactome: R-HSA-5620924;
name: Intraflagellar transport protein 22 homolog (Rab-like protein 5)
length: 185
go: ENSG00000128581;
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}.
sequence:
MLKAKILFVGPCESGKTVLANFLTESSDITEYSPTQGVRILEFENPHVTSNNKGTGCEFELWDCGGDAKFESCWPALMKDAHGVVIVFNADIPSHRKEMEMWYSCFVQQPSLQDTQCMLIAHHKPGSGDDKGSLSLSPPLNKLKLVHSNLEDDPEEIRMEFIKYLKSIINSMSESRDREEMSIMT

opentargets:
centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; intraciliary transport particle B [GO:0030992]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; intracellular protein transport [GO:0006886]; intraciliary transport involved in cilium assembly [GO:0035735]; Rab protein signal transduction [GO:0032482]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H7X7-1; Sequence=Displayed; Name=2; IsoId=Q9H7X7-2; Sequence=VSP_021112; Name=3; IsoId=Q9H7X7-3; Sequence=VSP_045182; 


uniprotID: Q9BW83
geneSymbol: IFT27
reactome: R-HSA-5620924;
length: 186
go: ENSG00000100360;
snps: rs587777546
name:
Intraflagellar transport protein 27 homolog (Putative GTP-binding protein RAY-like) (Rab-like protein 4)

sequence:
MVKLAAKCILAGDPAVGKTALAQIFRSDGAHFQKSYTLTTGMDLVVKTVPVPDTGDSVELFIFDSAGKELFSEMLDKLWESPNVLCLVYDVTNEESFNNCSKWLEKARSQAPGISLPGVLVGNKTDLAGRRAVDSAEARAWALGQGLECFETSVKEMENFEAPFHCLAKQFHQLYREKVEVFRALA

opentargets:
centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasm [GO:0005737]; intraciliary transport particle B [GO:0030992]; motile cilium [GO:0031514]; sperm flagellum [GO:0036126]; sperm midpiece [GO:0097225]; sperm principal piece [GO:0097228]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; cochlea development [GO:0090102]; inner ear receptor cell stereocilium organization [GO:0060122]; intracellular protein transport [GO:0006886]; intraciliary transport [GO:0042073]; intraciliary transport involved in cilium assembly [GO:0035735]; kidney development [GO:0001822]; Rab protein signal transduction [GO:0032482]; smoothened signaling pathway [GO:0007224]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BW83-1; Sequence=Displayed; Name=2; IsoId=Q9BW83-2; Sequence=VSP_021019; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:25443296}. Cytoplasm {ECO:0000250|UniProtKB:Q9D0P8}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q9D0P8}. Note=Localizes to the sperm flagellum. {ECO:0000250|UniProtKB:Q9D0P8}.


uniprotID: Q4ZG55
geneSymbol: GREB1
reactome: R-HSA-9018519;
name: Protein GREB1 (Gene regulated in breast cancer 1 protein)
length: 1949
go: ENSG00000196208;
snps: rs10929757 rs4669751 rs6744817 rs35188552 rs36030386 rs3762579 rs11695925 rs2304402 rs34955282
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=GREB1a; IsoId=Q4ZG55-1; Sequence=Displayed; Name=2; Synonyms=GREB1b; IsoId=Q4ZG55-2; Sequence=VSP_031760, VSP_031761; Name=3; Synonyms=GREB1c; IsoId=Q4ZG55-3; Sequence=VSP_031758, VSP_031759; Name=4; IsoId=Q4ZG55-4; Sequence=VSP_031757; 


uniprotID: P01859
geneSymbol: IGHG2
reactome: R-HSA-166663;R-HSA-173623;R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-977606;
pdb: 2QSC;4HAF;4HAG;4L4J;
length: 326
go: ENSG00000211893;
drug: DB07329;DB08618;DB08323;DB08409;DB08510;DB02854;DB04688;DB08547;
name:
Immunoglobulin heavy constant gamma 2 (Ig gamma-2 chain C region) (Ig gamma-2 chain C region DOT) (Ig gamma-2 chain C region TIL) (Ig gamma-2 chain C region ZIE)

sequence:

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


uniprotID: P01860
geneSymbol: IGHG3
reactome: R-HSA-166663;R-HSA-173623;R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-977606;
pdb: 4WWI;4ZNC;5M3V;5W38;
length: 377
name:
Immunoglobulin heavy constant gamma 3 (HDC) (Heavy chain disease protein) (Ig gamma-3 chain C region)

sequence:

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; immunoglobulin complex, circulating [GO:0042571]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; serine-type endopeptidase activity [GO:0004252]; B cell receptor signaling pathway [GO:0050853]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; innate immune response [GO:0045087]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]; regulation of complement activation [GO:0030449]; retina homeostasis [GO:0001895]


uniprotID: Q9H772
geneSymbol: GREM2
reactome: R-HSA-201451;
length: 168
go: ENSG00000180875;
snps: rs373941682 rs142343894 rs34188522 rs1057519288
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Gremlin-2 (Cysteine knot superfamily 1, BMP antagonist 2) (DAN domain family member 3) (Protein related to DAN and cerberus)

sequence:
MFWKLSLSLFLVAVLVKVAEARKNRPAGAIPSPYKDGSSNNSERWQHQIKEVLASSQEALVVTERKYLKSDWCKTQPLRQTVSEEGCRSRTILNRFCYGQCNSFYIPRHVKKEEESFQSCAFCKPQRVTSVLVELECPGLDPPFRLKKIQKVKQCRCMSVNLSDSDKQ

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; BMP binding [GO:0036122]; cytokine activity [GO:0005125]; heparin binding [GO:0008201]; protein homodimerization activity [GO:0042803]; BMP signaling pathway [GO:0030509]; cytokine-mediated signaling pathway [GO:0019221]; determination of dorsal identity [GO:0048263]; embryonic body morphogenesis [GO:0010172]; regulation of cytokine activity [GO:0060300]; sequestering of BMP from receptor via BMP binding [GO:0038098]


uniprotID: Q6ISB3
geneSymbol: GRHL2
pdb: 5MR7;
length: 625
go: ENSG00000083307;
snps: rs587777737 rs3779617 rs587777738
name:
Grainyhead-like protein 2 homolog (Brother of mammalian grainyhead) (Transcription factor CP2-like 3)

sequence:

opentargets:
cell-cell junction [GO:0005911]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; intronic transcription regulatory region sequence-specific DNA binding [GO:0001161]; sequence-specific DNA binding [GO:0043565]; bicellular tight junction assembly [GO:0070830]; brain development [GO:0007420]; camera-type eye development [GO:0043010]; cardiac ventricle morphogenesis [GO:0003208]; cell adhesion [GO:0007155]; cell junction assembly [GO:0034329]; cell proliferation [GO:0008283]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic digit morphogenesis [GO:0042733]; epidermis development [GO:0008544]; epithelial cell morphogenesis [GO:0003382]; epithelial cell morphogenesis involved in placental branching [GO:0060672]; epithelium migration [GO:0090132]; face development [GO:0060324]; lung epithelial cell differentiation [GO:0060487]; lung lobe morphogenesis [GO:0060463]; multicellular organism growth [GO:0035264]; negative regulation of keratinocyte differentiation [GO:0045617]; neural tube closure [GO:0001843]; neural tube development [GO:0021915]; positive regulation of telomerase activity [GO:0051973]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of DNA methylation [GO:0044030]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ISB3-1; Sequence=Displayed; Name=2; IsoId=Q6ISB3-2; Sequence=VSP_017642; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20938050, ECO:0000269|PubMed:25152456, ECO:0000269|PubMed:29499165}. Membrane {ECO:0000269|PubMed:25152456}. Note=detected at cell-cell contact areas. {ECO:0000269|PubMed:25152456}.


uniprotID: P01591
geneSymbol: JCHAIN
reactome: R-HSA-202733;R-HSA-2168880;
name: Immunoglobulin J chain (Joining chain of multimeric IgA and IgM)
length: 159
go: ENSG00000132465;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:P01592}.
sequence:
MKNHLLFWGVLAVFIKAVHVKAQEDERIVLVDNKCKCARITSRIIRSSEDPNEDIVERNIRIIVPLNNRENISDPTSPLRTRFVYHLSDLCKKCDPTEVELDNQIVTATQSNICDEDSATETCYTYDRNKCYTAVVPLVYGGETKMVETALTPDACYPD

opentargets:
blood microparticle [GO:0072562]; dimeric IgA immunoglobulin complex [GO:0071750]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; monomeric IgA immunoglobulin complex [GO:0071748]; pentameric IgM immunoglobulin complex [GO:0071756]; secretory dimeric IgA immunoglobulin complex [GO:0071752]; secretory IgA immunoglobulin complex [GO:0071751]; antigen binding [GO:0003823]; IgA binding [GO:0019862]; immunoglobulin receptor binding [GO:0034987]; protein binding, bridging [GO:0030674]; protein homodimerization activity [GO:0042803]; adaptive immune response [GO:0002250]; antibacterial humoral response [GO:0019731]; glomerular filtration [GO:0003094]; immune response [GO:0006955]; innate immune response [GO:0045087]; leukocyte migration [GO:0050900]; positive regulation of protein oligomerization [GO:0032461]; positive regulation of respiratory burst [GO:0060267]; receptor-mediated endocytosis [GO:0006898]; retina homeostasis [GO:0001895]


uniprotID: P01834
geneSymbol: IGKC
length: 107
drug: DB07416;DB08562;DB04688;DB08413;DB08289;DB07893;DB01851;DB08647;
pdb:
1A4J;1A4K;1CLY;1D5B;1D5I;1D6V;1DFB;1GAF;1HEZ;1HKL;1HZH;1I7Z;1MIM;1N0X;1OM3;1OP3;1OP5;1UCB;2NY7;2O5X;2O5Y;2O5Z;2QQK;2QQL;2QQN;2QSC;2R56;2RFX;2VXQ;3B2U;3B2V;3BDY;3BE1;3BKY;3BN9;3BQU;3C08;3C09;3CFJ;3CFK;3CSY;3D0L;3D85;3DVG;3DVN;3EYF;3EYO;3EYQ;3IU3;3O11;3QCT;3QCU;3QCV;3RU8;3U0W;3U7W;3U7Y;3VH8;3WUW;3X11;3X12;4D3C;4D9R;4HIX;4NM4;4NM8;4XMP;4XNY;4XNZ;4XXD;4YDV;5B38;5B39;5ESV;5ESZ;5VEB;5VIY;6AU5;6AXP;6AYN;6AZK;6AZL;6B9Y;6B9Z;6BAE;6BAH;6DCV;6DCW;

name:
Immunoglobulin kappa constant (Ig kappa chain C region) (Ig kappa chain C region AG) (Ig kappa chain C region CUM) (Ig kappa chain C region EU) (Ig kappa chain C region OU) (Ig kappa chain C region ROY) (Ig kappa chain C region TI)

sequence:
RTVAAPSVFIFPPSDEQLKSGTASVVCLLNNFYPREAKVQWKVDNALQSGNSQESVTEQDSKDSTYSLSSTLTLSKADYEKHKVYACEVTHQGLSSPVTKSFNRGEC

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; immunoglobulin complex, circulating [GO:0042571]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; serine-type endopeptidase activity [GO:0004252]; B cell receptor signaling pathway [GO:0050853]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; innate immune response [GO:0045087]; leukocyte migration [GO:0050900]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]; retina homeostasis [GO:0001895]


uniprotID: P0CG04
geneSymbol: IGLC1
pdb: 1ZVO;2FB4;2IG2;
name: Immunoglobulin lambda constant 1 (Ig lambda chain C region MGC) (Ig lambda-1 chain C region)
length: 106
drug: DB03088;
sequence:
GQPKANPTVTLFPPSSEELQANKATLVCLISDFYPGAVTVAWKADGSPVKAGVETTKPSKQSNNKYAASSYLSLTPEQWKSHRSYSCQVTHEGSTVEKTVAPTECS

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; immunoglobulin complex, circulating [GO:0042571]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; serine-type endopeptidase activity [GO:0004252]; B cell receptor signaling pathway [GO:0050853]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; innate immune response [GO:0045087]; leukocyte migration [GO:0050900]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: P0CF74
geneSymbol: IGLC6
name: Immunoglobulin lambda constant 6 (Ig lambda-6 chain C region)
length: 106
sequence:
GQPKAAPSVTLFPPSSEELQANKATLVCLISDFYPGAVKVAWKADGSPVNTGVETTTPSKQSNNKYAASSYLSLTPEQWKSHRSYSCQVTHEGSTVEKTVAPAECS

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]; 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: P15814
geneSymbol: IGLL1
reactome: R-HSA-202733;
pdb: 2H32;2H3N;2LKQ;
length: 213
go: ENSG00000128322;
snps: rs1064422 rs8138122
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9419212}.
name:
Immunoglobulin lambda-like polypeptide 1 (CD179 antigen-like family member B) (Ig lambda-5) (Immunoglobulin omega polypeptide) (Immunoglobulin-related protein 14.1) (CD antigen CD179b)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; immunoglobulin complex, circulating [GO:0042571]; membrane [GO:0016020]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; B cell receptor signaling pathway [GO:0050853]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; immune response [GO:0006955]; innate immune response [GO:0045087]; leukocyte migration [GO:0050900]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P15814-1; Sequence=Displayed; Name=2; IsoId=P15814-2; Sequence=VSP_042748; Note=No experimental confirmation available.; 


uniprotID: B9A064
geneSymbol: IGLL5
name: Immunoglobulin lambda-like polypeptide 5 (G lambda-1) (Germline immunoglobulin lambda 1)
length: 214
go: ENSG00000254709;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=B9A064-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=B9A064-2; Sequence=VSP_040709, VSP_040710; 


uniprotID: A6NGN9
geneSymbol: IGLON5
name: IgLON family member 5
length: 336
go: ENSG00000142549;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: P42262
geneSymbol: GRIA2
reactome: R-HSA-399710;R-HSA-416993;R-HSA-438066;
pdb: 2WJW;2WJX;2XHD;3R7X;3RN8;3RNN;3UA8;5H8S;5YBF;5YBG;
length: 883
go: ENSG00000120251;
snps: rs17850674 rs17850675
name:
Glutamate receptor 2 (GluR-2) (AMPA-selective glutamate receptor 2) (GluR-B) (GluR-K2) (Glutamate receptor ionotropic, AMPA 2) (GluA2)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; endocytic vesicle membrane [GO:0030666]; endoplasmic reticulum membrane [GO:0005789]; excitatory synapse [GO:0060076]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; postsynaptic endocytic zone [GO:0098843]; postsynaptic membrane [GO:0045211]; AMPA glutamate receptor activity [GO:0004971]; amyloid-beta binding [GO:0001540]; excitatory extracellular ligand-gated ion channel activity [GO:0005231]; ionotropic glutamate receptor activity [GO:0004970]; chemical synaptic transmission [GO:0007268]; ionotropic glutamate receptor signaling pathway [GO:0035235]; signal transduction [GO:0007165]; synaptic transmission, glutamatergic [GO:0035249]

drug:
DB02057;DB03319;DB01664;DB02347;DB01351;DB04599;DB01352;DB01483;DB01496;DB04000;DB00237;DB00241;DB01353;DB05047;DB00898;DB03759;DB02966;DB01354;DB01355;DB02818;DB00142;DB00463;DB00849;DB00312;DB01174;DB00794;DB01346;DB02999;DB00418;DB04982;DB00306;DB04798;DB00599;DB04129;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Flop; IsoId=P42262-1; Sequence=Displayed; Name=Flip; IsoId=P42262-2; Sequence=VSP_053350; Name=3; Synonyms=Long; IsoId=P42262-3; Sequence=VSP_029309; Name=4; IsoId=P42262-4; Sequence=VSP_055920, VSP_053350; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23739980}; Multi-pass membrane protein {ECO:0000269|PubMed:23739980}. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000269|PubMed:23739980}; Multi-pass membrane protein {ECO:0000269|PubMed:23739980}. Note=Interaction with CACNG2, CNIH2 and CNIH3 promotes cell surface expression (By similarity). Displays a somatodendritic localization and is excluded from axons in neurons (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:P23819}.


uniprotID: P0DOX6
name: Immunoglobulin mu heavy chain (Immunoglobulin mu heavy chain OU)
length: 576
sequence:

opentargets:
extracellular region [GO:0005576]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; adaptive immune response [GO:0002250]


uniprotID: Q96ID5
geneSymbol: IGSF21
name: Immunoglobulin superfamily member 21 (IgSF21)
length: 467
go: ENSG00000117154;
snps: rs2355877 rs12076815 rs766575681
sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; cell-cell adherens junction [GO:0005913]; inhibitory synapse [GO:0060077]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; cell adhesion molecule binding [GO:0050839]; protein homodimerization activity [GO:0042803]; signaling receptor activity [GO:0038023]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; synapse maturation [GO:0060074]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q7TNR6}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q7TNR6}.


uniprotID: Q8N9C0
geneSymbol: IGSF22
name: Immunoglobulin superfamily member 22 (IgSF22)
length: 903
go: ENSG00000179057;
snps: rs117464001 rs10832975 rs3740710 rs10766494 rs4424652 rs3887899 rs7125943 rs11024769
sequence:

opentargets:
M band [GO:0031430]; sarcomere [GO:0030017]; striated muscle thin filament [GO:0005865]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; muscle alpha-actinin binding [GO:0051371]; structural constituent of muscle [GO:0008307]; cardiac muscle fiber development [GO:0048739]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac myofibril assembly [GO:0055003]; muscle contraction [GO:0006936]; sarcomere organization [GO:0045214]; skeletal muscle myosin thick filament assembly [GO:0030241]; skeletal muscle thin filament assembly [GO:0030240]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9C0-1; Sequence=Displayed; Name=2; IsoId=Q8N9C0-2; Sequence=VSP_047394, VSP_047395; Note=Gene prediction based on EST data.; 


uniprotID: Q9ULK0
geneSymbol: GRID1
name: Glutamate receptor ionotropic, delta-1 (GluD1) (GluR delta-1 subunit)
length: 1009
go: ENSG00000182771;
drug: DB00142;
snps: rs2306265
sequence:

opentargets:
cell junction [GO:0030054]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; glutamate receptor activity [GO:0008066]; ionotropic glutamate receptor activity [GO:0004970]; modulation of chemical synaptic transmission [GO:0050804]; social behavior [GO:0035176]; synaptic transmission, glutamatergic [GO:0035249]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULK0-1; Sequence=Displayed; Name=2; IsoId=Q9ULK0-2; Sequence=VSP_057019; Note=No experimental confirmation available.; 

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


uniprotID: O43424
geneSymbol: GRID2
pdb: 5KC8;5KCA;
name: Glutamate receptor ionotropic, delta-2 (GluD2) (GluR delta-2 subunit)
length: 1007
go: ENSG00000152208;
drug: DB00142;
snps: rs34144324 rs34796082 rs10034345
sequence:

opentargets:
cell junction [GO:0030054]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; ionotropic glutamate receptor complex [GO:0008328]; parallel fiber to Purkinje cell synapse [GO:0098688]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; glutamate receptor activity [GO:0008066]; ionotropic glutamate receptor activity [GO:0004970]; PDZ domain binding [GO:0030165]; scaffold protein binding [GO:0097110]; cellular protein localization [GO:0034613]; cerebellar granule cell differentiation [GO:0021707]; excitatory postsynaptic potential [GO:0060079]; excitatory synapse assembly [GO:1904861]; glutamate receptor signaling pathway [GO:0007215]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; modulation of chemical synaptic transmission [GO:0050804]; positive regulation of long-term synaptic depression [GO:1900454]; positive regulation of synapse assembly [GO:0051965]; prepulse inhibition [GO:0060134]; regulation of neuron apoptotic process [GO:0043523]; regulation of neuron projection development [GO:0010975]; regulation of postsynaptic density assembly [GO:0099151]; synaptic transmission, glutamatergic [GO:0035249]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43424-1; Sequence=Displayed; Name=2; IsoId=O43424-2; Sequence=VSP_054704; 

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


uniprotID: A4D1Z8
geneSymbol: GRIFIN
name: Grifin (Galectin-related inter-fiber protein)
length: 144
go: ENSG00000275572;
opentargets: carbohydrate binding [GO:0030246]
sequence:
MAVQSKAFCAGGLAPGWKLLVQGHADSGEDRFETNFLLETGDIAFHIKPRFSSATVVGNAFQYGRWGPEQVSSIFPLAPGEPFEIEVSWDAEHFHVYAPEHKVLQFPCRQRPLGATTRVRVLSDHCLAQVELAKRGLSWGDRGY


uniprotID: Q969P0
geneSymbol: IGSF8
length: 613
go: ENSG00000162729;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane protein.
name:
Immunoglobulin superfamily member 8 (IgSF8) (CD81 partner 3) (Glu-Trp-Ile EWI motif-containing protein 2) (EWI-2) (Keratinocytes-associated transmembrane protein 4) (KCT-4) (LIR-D1) (Prostaglandin regulatory-like protein) (PGRL) (CD antigen CD316)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; cell motility [GO:0048870]; cell proliferation [GO:0008283]; nervous system development [GO:0007399]; single fertilization [GO:0007338]; skeletal muscle tissue development [GO:0007519]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q969P0-1; Sequence=Displayed; Name=2; IsoId=Q969P0-2; Sequence=VSP_017429, VSP_017430; Note=No experimental confirmation available.; Name=3; IsoId=Q969P0-3; Sequence=VSP_017431; Note=No experimental confirmation available.; 


uniprotID: P39086
geneSymbol: GRIK1
reactome: R-HSA-451307;R-HSA-451308;
pdb: 2ZNS;2ZNT;2ZNU;3FUZ;3FV1;3FV2;3FVG;3FVK;3FVN;3FVO;4MF3;
length: 918
go: ENSG00000171189;
drug: DB00142;DB00273;
snps: rs143252117 rs363494 rs761410270 rs363503 rs363504
name:
Glutamate receptor ionotropic, kainate 1 (GluK1) (Excitatory amino acid receptor 3) (EAA3) (Glutamate receptor 5) (GluR-5) (GluR5)

sequence:

opentargets:
cell junction [GO:0030054]; integral component of plasma membrane [GO:0005887]; kainate selective glutamate receptor complex [GO:0032983]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; glutamate receptor activity [GO:0008066]; kainate selective glutamate receptor activity [GO:0015277]; ligand-gated ion channel activity [GO:0015276]; central nervous system development [GO:0007417]; chemical synaptic transmission [GO:0007268]; glutamate receptor signaling pathway [GO:0007215]; modulation of chemical synaptic transmission [GO:0050804]; nervous system development [GO:0007399]; regulation of synaptic transmission, glutamatergic [GO:0051966]; synaptic transmission, glutamatergic [GO:0035249]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=GluR5-1D; IsoId=P39086-1; Sequence=Displayed; Name=2; Synonyms=EAA3A; IsoId=P39086-2; Sequence=VSP_000127, VSP_000128; 

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


uniprotID: Q16099
geneSymbol: GRIK4
reactome: R-HSA-451308;
length: 956
go: ENSG00000149403;
drug: DB00142;
snps: rs2230298 rs9988907
name:
Glutamate receptor ionotropic, kainate 4 (GluK4) (Excitatory amino acid receptor 1) (EAA1) (Glutamate receptor KA-1) (KA1)

sequence:

opentargets:
cell junction [GO:0030054]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; kainate selective glutamate receptor complex [GO:0032983]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; glutamate receptor activity [GO:0008066]; kainate selective glutamate receptor activity [GO:0015277]; ligand-gated ion channel activity [GO:0015276]; chemical synaptic transmission [GO:0007268]; glutamate receptor signaling pathway [GO:0007215]; modulation of chemical synaptic transmission [GO:0050804]; synaptic transmission, glutamatergic [GO:0035249]


uniprotID: P0CAP2
geneSymbol: POLR2M
length: 368
go: ENSG00000255529;
location: SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000305}.
name:
DNA-directed RNA polymerase II subunit GRINL1A (DNA-directed RNA polymerase II subunit M) (Glutamate receptor-like protein 1A)

sequence:

opentargets:
intracellular [GO:0005622]; neuronal cell body [GO:0043025]; nuclear envelope [GO:0005635]; RNA polymerase II, holoenzyme [GO:0016591]; DNA-directed 5'-3' RNA polymerase activity [GO:0003899]; intracellular signal transduction [GO:0035556]; maintenance of ER location [GO:0051685]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Gdown1; IsoId=P0CAP2-1; Sequence=Displayed; Name=2; Synonyms=Gdown6; IsoId=P0CAP2-2; Sequence=VSP_037387; Name=3; IsoId=P0CAP2-3; Sequence=VSP_037388; Name=4; Synonyms=Gdown4; IsoId=Q6EEV4-1; Sequence=External; Name=5; Synonyms=Gdown3; IsoId=Q6EEV4-2; Sequence=External; Name=11; Synonyms=Gcom1, GRINL1A complex locus protein 1; IsoId=P0CAP1-11; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces a MYZAP-POLR2M fusion protein.; 


uniprotID: O60269
geneSymbol: GPRIN2
name: G protein-regulated inducer of neurite outgrowth 2 (GRIN2)
length: 458
go: ENSG00000204175;
sequence:

snps:
rs3127817 rs4926045 rs3127818 rs3127819 rs3127820 rs7090312 rs3127679 rs11204658 rs11204659 rs9422022 rs3127683 rs4445576 rs3127822 rs3127823 


uniprotID: P41594
geneSymbol: GRM5
reactome: R-HSA-416476;R-HSA-420499;R-HSA-6794361;
pdb: 3LMK;4OO9;5CGC;5CGD;
name: Metabotropic glutamate receptor 5 (mGluR5)
length: 1212
go: ENSG00000168959;
drug: DB00659;DB06060;DB05070;DB06201;
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; Schaffer collateral - CA1 synapse [GO:0098685]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential [GO:0099530]; glutamate receptor activity [GO:0008066]; neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration [GO:0099583]; protein tyrosine kinase activator activity [GO:0030296]; protein tyrosine kinase binding [GO:1990782]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cellular response to amyloid-beta [GO:1904646]; chemical synaptic transmission [GO:0007268]; cognition [GO:0050890]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; G protein-coupled receptor signaling pathway [GO:0007186]; learning [GO:0007612]; learning or memory [GO:0007611]; locomotory behavior [GO:0007626]; modulation of age-related behavioral decline [GO:0090647]; phospholipase C-activating G protein-coupled glutamate receptor signaling pathway [GO:0007206]; positive regulation of protein tyrosine kinase activity [GO:0061098]; postsynaptic modulation of chemical synaptic transmission [GO:0099170]; regulation of intracellular calcium activated chloride channel activity [GO:1902938]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of protein phosphorylation [GO:0001932]; regulation of synaptic transmission, glutamatergic [GO:0051966]; regulation of translation [GO:0006417]; regulation of translational elongation [GO:0006448]; synapse organization [GO:0050808]; trans-synaptic signaling by endocannabinoid, modulating synaptic transmission [GO:0099553]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; Synonyms=5b; IsoId=P41594-1; Sequence=Displayed; Name=1; Synonyms=5a; IsoId=P41594-2; Sequence=VSP_002030; Name=3; Synonyms=5d; IsoId=P41594-3; Sequence=VSP_047710; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25042998, ECO:0000269|PubMed:7908515}; Multi-pass membrane protein {ECO:0000269|PubMed:25042998, ECO:0000269|PubMed:7908515}.


uniprotID: Q9C0E4
geneSymbol: GRIP2
reactome: R-HSA-416993;
pdb: 1V62;1X5R;
name: Glutamate receptor-interacting protein 2 (GRIP-2)
length: 1043
go: ENSG00000144596;
sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; receptor signaling complex scaffold activity [GO:0030159]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9C0E4-1; Sequence=Displayed; Name=2; IsoId=Q9C0E4-2; Sequence=VSP_009757, VSP_009758; Note=Due to intron retention. No experimental confirmation available.; Name=3; IsoId=Q9C0E4-3; Sequence=VSP_009754, VSP_009755, VSP_009756; Note=Incomplete sequence. Due to intron retention. No experimental confirmation available.; 


uniprotID: P32298
geneSymbol: GRK4
reactome: R-HSA-2514859;
pdb: 4YHJ;
name: G protein-coupled receptor kinase 4 (EC 2.7.11.16) (G protein-coupled receptor kinase GRK4) (ITI1)
length: 578
go: ENSG00000125388;
sequence:

opentargets:
cell cortex [GO:0005938]; cytosol [GO:0005829]; dendrite [GO:0030425]; neuronal cell body [GO:0043025]; photoreceptor disc membrane [GO:0097381]; ATP binding [GO:0005524]; G protein-coupled receptor kinase activity [GO:0004703]; rhodopsin kinase activity [GO:0050254]; G protein-coupled receptor internalization [GO:0002031]; receptor internalization [GO:0031623]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; signal transduction [GO:0007165]

snps:
rs2960306 rs13305979 rs34857805 rs1024323 rs45538934 rs1140085 rs55852353 rs747003103 rs35024854 rs1801058 rs35463176 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=GRK4-alpha, GRK4D; IsoId=P32298-1; Sequence=Displayed; Name=2; Synonyms=GRK4-beta, GRK4C; IsoId=P32298-2; Sequence=VSP_004936; Name=3; Synonyms=GRK4-delta, GRK4A; IsoId=P32298-3; Sequence=VSP_004936, VSP_004937; Name=4; Synonyms=GRK4-gamma, GRK4B; IsoId=P32298-4; Sequence=VSP_004937; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cell cortex. Note=Both at the cell surface and dispersed in the cytoplasm under basal conditions. Receptor stimulation results in the internalization of GRK4 to the perinuclear area, where colocalization with DRD3 is observed strongly at 5 and 15 minutes. DRD3 and GRK4 colocalize in lipid rafts of renal proximal tubule cells.


uniprotID: Q96HH9
geneSymbol: GRAMD2B
name: GRAM domain-containing protein 2B (HCV NS3-transactivated protein 2)
length: 432
go: ENSG00000155324;
opentargets: cytoplasmic microtubule [GO:0005881]; identical protein binding [GO:0042802]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96HH9-1; Sequence=Displayed; Name=2; IsoId=Q96HH9-2; Sequence=VSP_042883; Note=No experimental confirmation available.; Name=3; IsoId=Q96HH9-3; Sequence=VSP_042884; Note=No experimental confirmation available.; Name=4; IsoId=Q96HH9-4; Sequence=VSP_042885; Note=No experimental confirmation available.; Name=5; IsoId=Q96HH9-5; Sequence=VSP_044298, VSP_044299; 


uniprotID: P43250
geneSymbol: GRK6
reactome: R-HSA-418555;
pdb: 2ACX;3NYN;3NYO;
name: G protein-coupled receptor kinase 6 (EC 2.7.11.16) (G protein-coupled receptor kinase GRK6)
length: 576
go: ENSG00000198055;
snps: rs141014084 rs56382815
location: SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
sequence:

opentargets:
membrane [GO:0016020]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; beta-adrenergic receptor kinase activity [GO:0047696]; G protein-coupled receptor kinase activity [GO:0004703]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=GRK6A; IsoId=P43250-1; Sequence=Displayed; Name=GRK6B; IsoId=P43250-2; Sequence=VSP_004938; Name=GRK6C; IsoId=P43250-3; Sequence=VSP_041813, VSP_041814; 


uniprotID: Q9HAV7
geneSymbol: GRPEL1
reactome: R-HSA-1268020;
name: GrpE protein homolog 1, mitochondrial (HMGE) (Mt-GrpE#1)
length: 217
go: ENSG00000109519;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:11311562}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; PAM complex, Tim23 associated import motor [GO:0001405]; adenyl-nucleotide exchange factor activity [GO:0000774]; chaperone binding [GO:0051087]; protein homodimerization activity [GO:0042803]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]; protein import into mitochondrial matrix [GO:0030150]


uniprotID: O95390
geneSymbol: GDF11
pdb: 5E4G;5JHW;5UHM;
name: Growth/differentiation factor 11 (GDF-11) (Bone morphogenetic protein 11) (BMP-11)
length: 407
go: ENSG00000135414;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160]; camera-type eye morphogenesis [GO:0048593]; cell development [GO:0048468]; cell maturation [GO:0048469]; mesoderm development [GO:0007498]; metanephros development [GO:0001656]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron differentiation [GO:0045665]; nervous system development [GO:0007399]; pancreas development [GO:0031016]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; roof of mouth development [GO:0060021]; skeletal system development [GO:0001501]; SMAD protein signal transduction [GO:0060395]; spinal cord anterior/posterior patterning [GO:0021512]; ureteric bud development [GO:0001657]


uniprotID: Q9HCC8
geneSymbol: GDPD2
length: 539
go: ENSG00000130055;
name:
Glycerophosphoinositol inositolphosphodiesterase GDPD2 (EC 3.1.4.43) (Glycerophosphodiester phosphodiesterase 3) (Glycerophosphodiester phosphodiesterase domain-containing protein 2) (Osteoblast differentiation promoting factor)

sequence:

opentargets:
actin filament [GO:0005884]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; glycerophosphodiester phosphodiesterase activity [GO:0008889]; glycerophosphoinositol inositolphosphodiesterase activity [GO:0047394]; metal ion binding [GO:0046872]; actin filament reorganization [GO:0090527]; lipid metabolic process [GO:0006629]; positive regulation of osteoblast differentiation [GO:0045669]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HCC8-1; Sequence=Displayed; Name=2; IsoId=Q9HCC8-2; Sequence=VSP_042622; Note=No experimental confirmation available.; Name=3; IsoId=Q9HCC8-3; Sequence=VSP_042623; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cytoplasm. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Colocalizes with the actin cytoskeleton. {ECO:0000250}.


uniprotID: P57678
geneSymbol: GEMIN4
reactome: R-HSA-191859;
name: Gem-associated protein 4 (Gemin-4) (Component of gems 4) (p97)
length: 1058
go: ENSG00000179409;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Gemini of coiled bodies [GO:0097504]; membrane [GO:0016020]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; small nuclear ribonucleoprotein complex [GO:0030532]; SMN complex [GO:0032797]; SMN-Sm protein complex [GO:0034719]; import into nucleus [GO:0051170]; rRNA processing [GO:0006364]; spliceosomal snRNP assembly [GO:0000387]

snps:
rs34604548 rs34616851 rs910925 rs3744741 rs1062923 rs8078660 rs34452716 rs730882219 rs34936176 rs34610323 rs7813 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus, nucleolus. Nucleus, gem. Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs and in the nucleolus.


uniprotID: P0DP01
geneSymbol: IGHV1-8
name: Immunoglobulin heavy variable 1-8
length: 117
sequence:
MDWTWRILFLVAAATSAHSQVQLVQSGAEVKKPGASVKVSCKASGYTFTSYDINWVRQATGQGLEWMGWMNPNSGNTGYAQKFQGRVTMTRNTSISTAYMELSSLRSEDTAVYYCAR


uniprotID: Q06210
geneSymbol: GFPT1
reactome: R-HSA-381038;R-HSA-4085023;R-HSA-446210;
pdb: 2V4M;2ZJ3;2ZJ4;
length: 699
go: ENSG00000198380;
snps: rs387906638 rs751097758 rs201322234 rs753866967 rs1378864996 rs1363498649 rs1024585946
name:
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 (EC 2.6.1.16) (D-fructose-6-phosphate amidotransferase 1) (Glutamine:fructose-6-phosphate amidotransferase 1) (GFAT 1) (GFAT1) (Hexosephosphate aminotransferase 1)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; carbohydrate derivative binding [GO:0097367]; glutamine-fructose-6-phosphate transaminase (isomerizing) activity [GO:0004360]; circadian regulation of gene expression [GO:0032922]; energy reserve metabolic process [GO:0006112]; fructose 6-phosphate metabolic process [GO:0006002]; glutamine metabolic process [GO:0006541]; IRE1-mediated unfolded protein response [GO:0036498]; protein N-linked glycosylation [GO:0006487]; UDP-N-acetylglucosamine biosynthetic process [GO:0006048]; UDP-N-acetylglucosamine metabolic process [GO:0006047]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=GFAT1m; IsoId=Q06210-1; Sequence=Displayed; Name=2; IsoId=Q06210-2; Sequence=VSP_007497; 


uniprotID: A0A0B4J1V1
geneSymbol: IGHV3-21
pdb: 6APD;
name: Immunoglobulin heavy variable 3-21
length: 117
go: ENSG00000211947;
sequence:
MELGLRWVFLVAILEGVQCEVQLVESGGGLVKPGGSLRLSCAASGFTFSSYSMNWVRQAPGKGLEWVSSISSSSSYIYYADSVKGRFTISRDNAKNSLYLQMNSLRAEDTAVYYCAR


uniprotID: P10912
geneSymbol: GHR
reactome: R-HSA-1170546;R-HSA-982772;
pdb: 1A22;1AXI;1HWG;1HWH;1KF9;2AEW;3HHR;5OEK;5OHD;
length: 638
go: ENSG00000112964;
drug: DB00082;DB00052;
name:
Growth hormone receptor (GH receptor) (Somatotropin receptor) [Cleaved into: Growth hormone-binding protein (GH-binding protein) (GHBP) (Serum-binding protein)]

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; growth hormone receptor complex [GO:0070195]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; growth factor binding [GO:0019838]; growth hormone receptor activity [GO:0004903]; identical protein binding [GO:0042802]; peptide hormone binding [GO:0017046]; proline-rich region binding [GO:0070064]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; 2-oxoglutarate metabolic process [GO:0006103]; activation of Janus kinase activity [GO:0042976]; activation of MAPK activity [GO:0000187]; allantoin metabolic process [GO:0000255]; cellular response to hormone stimulus [GO:0032870]; citrate metabolic process [GO:0006101]; creatine metabolic process [GO:0006600]; creatinine metabolic process [GO:0046449]; endocytosis [GO:0006897]; fatty acid metabolic process [GO:0006631]; growth hormone receptor signaling pathway [GO:0060396]; hormone metabolic process [GO:0042445]; insulin-like growth factor receptor signaling pathway [GO:0048009]; isoleucine metabolic process [GO:0006549]; JAK-STAT cascade [GO:0007259]; JAK-STAT cascade involved in growth hormone signaling pathway [GO:0060397]; oxaloacetate metabolic process [GO:0006107]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; receptor internalization [GO:0031623]; regulation of multicellular organism growth [GO:0040014]; response to cycloheximide [GO:0046898]; response to estradiol [GO:0032355]; succinate metabolic process [GO:0006105]; taurine metabolic process [GO:0019530]; valine metabolic process [GO:0006573]

snps:
rs121909361 rs121909357 rs121909365 rs6413484 rs6413484 rs121909366 rs121909367 rs121909368 rs121909369 rs121909362 rs6181 rs6177 rs45588036 rs1164396446 rs6182 rs34283856 rs6183 rs6180 rs6184 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=GHRfl; IsoId=P10912-1; Sequence=Displayed; Name=2; Synonyms=GHRtr, GHR1-279; IsoId=P10912-2; Sequence=VSP_010227, VSP_010228; Name=3; Synonyms=GHR1-277; IsoId=P10912-3; Sequence=VSP_010229, VSP_010230; Name=4; Synonyms=GHRd3; IsoId=P10912-4; Sequence=VSP_010225, VSP_010226; Note=Arises by species-specific retrovirus-mediated alternative splice mimicry.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Note=On growth hormone binding, GHR is ubiquitinated, internalized, down-regulated and transported into a degradative or non-degradative pathway. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass type I membrane protein. Note=Remains fixed to the cell membrane and is not internalized.; SUBCELLULAR LOCATION: Growth hormone-binding protein: Secreted. Note=Complexed to a substantial fraction of circulating GH. {ECO:0000250}.


uniprotID: P35475
geneSymbol: IDUA
reactome: R-HSA-2024096;R-HSA-2024101;R-HSA-2206302;
pdb: 1Y24;3W81;3W82;4KGJ;4KGL;4KH2;4MJ2;4MJ4;4OBR;4OBS;
name: Alpha-L-iduronidase (EC 3.2.1.76)
length: 653
go: ENSG00000127415;
location: SUBCELLULAR LOCATION: Lysosome.
sequence:

opentargets:
coated vesicle [GO:0030135]; extracellular exosome [GO:0070062]; lysosomal lumen [GO:0043202]; L-iduronidase activity [GO:0003940]; signaling receptor binding [GO:0005102]; chondroitin sulfate catabolic process [GO:0030207]; dermatan sulfate catabolic process [GO:0030209]; disaccharide metabolic process [GO:0005984]; glycosaminoglycan catabolic process [GO:0006027]; heparin catabolic process [GO:0030211]

snps:
rs794726878 rs10794537 rs794726877 rs758452450 rs780165694 rs747981483 rs794727239 rs148775298 rs121965029 rs754966840 rs3755955 rs148946496 rs558683362 rs754154200 rs869025584 rs1230234600 rs148789453 rs369090960 rs121965030 rs199801029 rs121965033 rs746766617 rs368454909 rs6831280 rs750496798 rs121965024 rs762903007 rs754949360 rs794727896 rs11934801 rs931627770 rs532731688 rs73066479 rs121965027 rs121965026 rs772416503 rs772416503 rs121965021 rs398123257 rs121965031 rs1281475543 rs200448421 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35475-1; Sequence=Displayed; Name=2; IsoId=P35475-2; Sequence=VSP_057029, VSP_057030; Note=No experimental confirmation available.; 


uniprotID: Q96RY7
geneSymbol: IFT140
reactome: R-HSA-5610787;R-HSA-5620924;
name: Intraflagellar transport protein 140 homolog (WD and tetratricopeptide repeats protein 2)
length: 1462
go: ENSG00000187535;
sequence:

opentargets:
axoneme [GO:0005930]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary tip [GO:0097542]; cilium [GO:0005929]; intraciliary transport particle A [GO:0030991]; photoreceptor connecting cilium [GO:0032391]; photoreceptor outer segment [GO:0001750]; cilium assembly [GO:0060271]; determination of left/right symmetry [GO:0007368]; embryonic brain development [GO:1990403]; embryonic camera-type eye development [GO:0031076]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic digit morphogenesis [GO:0042733]; heart development [GO:0007507]; intraciliary retrograde transport [GO:0035721]; intraciliary transport involved in cilium assembly [GO:0035735]; neural tube patterning [GO:0021532]; non-motile cilium assembly [GO:1905515]; photoreceptor cell outer segment organization [GO:0035845]; protein localization to cilium [GO:0061512]; regulation of cilium assembly [GO:1902017]; regulation of smoothened signaling pathway [GO:0008589]; renal system development [GO:0072001]; retina development in camera-type eye [GO:0060041]; skeletal system morphogenesis [GO:0048705]

snps:
rs772757427 rs371077545 rs1403669200 rs148462329 rs35588860 rs201188361 rs539181813 rs4786350 rs35404373 rs8058674 rs431905521 rs387907193 rs1441549097 rs773372123 rs200292484 rs34762152 rs770890983 rs8060532 rs778311141 rs758052634 rs150903791 rs199826737 rs8050974 rs373111085 rs11648609 rs387907192 rs34900355 rs34535263 rs144938800 rs745576178 rs2235638 rs200065348 rs146666187 rs431905520 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96RY7-1; Sequence=Displayed; Name=2; IsoId=Q96RY7-2; Sequence=VSP_056392; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:22503633, ECO:0000269|PubMed:26968735}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23418020}. Cell projection, cilium {ECO:0000269|PubMed:22503633, ECO:0000269|PubMed:26968735}.


uniprotID: Q16666
geneSymbol: IFI16
reactome: R-HSA-1834941;R-HSA-3270619;
pdb: 2OQ0;3B6Y;3RLN;3RLO;3RNU;4QGU;
length: 785
go: ENSG00000163565;
snps: rs1057018 rs866484 rs11585341 rs1057027 rs1057028 rs6940 rs6940
name:
Gamma-interferon-inducible protein 16 (Ifi-16) (Interferon-inducible myeloid differentiation transcriptional activator)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; double-stranded DNA binding [GO:0003690]; identical protein binding [GO:0042802]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; activation of cysteine-type endopeptidase activity [GO:0097202]; activation of innate immune response [GO:0002218]; autophagy [GO:0006914]; cell proliferation [GO:0008283]; cellular response to glucose starvation [GO:0042149]; cellular response to ionizing radiation [GO:0071479]; defense response to virus [GO:0051607]; hemopoiesis [GO:0030097]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; monocyte differentiation [GO:0030224]; myeloid cell differentiation [GO:0030099]; negative regulation of cysteine-type endopeptidase activity [GO:2000117]; negative regulation of DNA binding [GO:0043392]; negative regulation of innate immune response [GO:0045824]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of viral genome replication [GO:0045071]; positive regulation of cytokine production [GO:0001819]; positive regulation of interleukin-1 beta production [GO:0032731]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type I interferon production [GO:0032481]; regulation of autophagy [GO:0010506]; regulation of gene expression, epigenetic [GO:0040029]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=IFI 16A; IsoId=Q16666-1; Sequence=Displayed; Name=2; Synonyms=IFI 16B; IsoId=Q16666-2; Sequence=VSP_002676; Note=Major isoform.; Name=3; Synonyms=IFI 16C; IsoId=Q16666-3; Sequence=VSP_002675; Name=4; IsoId=Q16666-6; Sequence=VSP_044691; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Cellular distribution is dependent on the acetylation status of the multipartite nuclear localization signal (NLS); NLS acetylation promotes cytoplasmic localization. Localizes in the nucleus during human herpes simplex virus 1 (HHV-1) infection.


uniprotID: Q14344
geneSymbol: GNA13
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;R-HSA-428930;R-HSA-456926;
name: Guanine nucleotide-binding protein subunit alpha-13 (G alpha-13) (G-protein subunit alpha-13)
length: 377
go: ENSG00000120063;
snps: rs1062597
sequence:

opentargets:
brush border membrane [GO:0031526]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; heterotrimeric G-protein complex [GO:0005834]; melanosome [GO:0042470]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; D5 dopamine receptor binding [GO:0031752]; G protein-coupled receptor binding [GO:0001664]; G-protein beta/gamma-subunit complex binding [GO:0031683]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; type 1 angiotensin receptor binding [GO:0031702]; activation of phospholipase D activity [GO:0031584]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; branching involved in blood vessel morphogenesis [GO:0001569]; cell differentiation [GO:0030154]; G protein-coupled receptor signaling pathway [GO:0007186]; in utero embryonic development [GO:0001701]; platelet activation [GO:0030168]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14344-1; Sequence=Displayed; Name=2; IsoId=Q14344-2; Sequence=VSP_055140; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10747909}; Lipid-anchor {ECO:0000269|PubMed:10747909}. Melanosome {ECO:0000269|PubMed:17081065}. Cytoplasm {ECO:0000269|PubMed:10747909, ECO:0000269|PubMed:18703424}. Nucleus {ECO:0000269|PubMed:18703424}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). Detected in the cytoplasm of Leydig cells and in the seminiferous epithelium, including differentiating cells from the spermatogonia to mature spermatozoa stages (PubMed:18703424). In round spermatids, also present in the nuclei (PubMed:18703424). {ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:18703424}.


uniprotID: P63092
geneSymbol: GNAS
pdb: 5G53;5UZ7;5VAI;6AU6;6B3J;6E3Y;6GDG;
length: 394
go: ENSG00000087460;
drug: DB02587;
reactome:
R-HSA-163359;R-HSA-164378;R-HSA-381676;R-HSA-392851;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-420092;R-HSA-432040;R-HSA-5610787;

name:
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short (Adenylate cyclase-stimulating G alpha protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; heterotrimeric G-protein complex [GO:0005834]; intrinsic component of membrane [GO:0031224]; membrane [GO:0016020]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; G-protein beta/gamma-subunit complex binding [GO:0031683]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-activating dopamine receptor signaling pathway [GO:0007191]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; bone development [GO:0060348]; cellular response to catecholamine stimulus [GO:0071870]; cellular response to glucagon stimulus [GO:0071377]; cellular response to prostaglandin E stimulus [GO:0071380]; cognition [GO:0050890]; developmental growth [GO:0048589]; G protein-coupled receptor signaling pathway [GO:0007186]; hair follicle placode formation [GO:0060789]; intracellular transport [GO:0046907]; platelet aggregation [GO:0070527]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of GTPase activity [GO:0043547]; regulation of insulin secretion [GO:0050796]; renal water homeostasis [GO:0003091]; sensory perception of smell [GO:0007608]

snps:
rs137854531 rs137854539 rs137854532 rs11554273 rs11554273 rs121913495 rs121913495 rs11554273 rs137854533 rs121913494 rs137854538 rs137854534 rs137854535 rs137854537 rs8986 rs397514457 rs397514456 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=Gnas-1; Synonyms=Alpha-S2, GNASl, Alpha-S-long; IsoId=P63092-1, P04895-1; Sequence=Displayed; Name=Gnas-2; Synonyms=Alpha-S1, GNASs, Alpha-S-short; IsoId=P63092-2, P04895-2; Sequence=VSP_001833, VSP_001834; Name=3; IsoId=P63092-3; Sequence=VSP_026616, VSP_026617; Note=No experimental confirmation available.; Name=XLas-1; IsoId=Q5JWF2-1; Sequence=External; Note=Gene prediction confirmed by EST data.; Name=XLas-2; IsoId=Q5JWF2-2; Sequence=External; Note=Gene prediction confirmed by EST data.; Name=XLas-3; IsoId=Q5JWF2-3; Sequence=External; Name=Nesp55; IsoId=O95467-1; Sequence=External; Note=Shares no sequence similarity with other isoforms due to a novel first exon containing the entire reading frame spliced to shared exon 2 so that exons 2-13 make up the 3'-UTR.; Name=4; IsoId=P63092-4; Sequence=VSP_047325; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P63094}; Lipid-anchor {ECO:0000250|UniProtKB:P63094}.


uniprotID: P08754
geneSymbol: GNAI3
pdb: 2IHB;2ODE;2V4Z;4G5O;4G5R;4G5S;
name: Guanine nucleotide-binding protein G(k) subunit alpha (G(i) alpha-3)
length: 354
go: ENSG00000065135;
snps: rs387907178
reactome:
R-HSA-112043;R-HSA-170670;R-HSA-202040;R-HSA-392170;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-6814122;

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; heterotrimeric G-protein complex [GO:0005834]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; membrane raft [GO:0045121]; midbody [GO:0030496]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; zymogen granule [GO:0042588]; G protein-coupled receptor binding [GO:0001664]; G protein-coupled serotonin receptor binding [GO:0031821]; G-protein beta/gamma-subunit complex binding [GO:0031683]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activating protein binding [GO:0032794]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; protein domain specific binding [GO:0019904]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; brain development [GO:0007420]; cell cycle [GO:0007049]; cell division [GO:0051301]; dopamine receptor signaling pathway [GO:0007212]; G protein-coupled receptor signaling pathway [GO:0007186]; GTP metabolic process [GO:0046039]; negative regulation of adenylate cyclase activity [GO:0007194]; negative regulation of apoptotic signaling pathway [GO:2001234]; positive regulation of macroautophagy [GO:0016239]; positive regulation of NAD(P)H oxidase activity [GO:0033864]; positive regulation of superoxide anion generation [GO:0032930]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; protein folding [GO:0006457]; vesicle fusion [GO:0006906]

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


uniprotID: O95467
geneSymbol: GNAS
name: Neuroendocrine secretory protein 55 (NESP55) [Cleaved into: LHAL tetrapeptide; GPIPIRRH peptide]
length: 245
go: ENSG00000087460;
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; transport vesicle [GO:0030133]; female pregnancy [GO:0007565]; negative regulation of multicellular organism growth [GO:0040015]; positive regulation of cold-induced thermogenesis [GO:0120162]; protein secretion [GO:0009306]; response to parathyroid hormone [GO:0071107]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=Nesp55 {ECO:0000269|PubMed:10729789, ECO:0000269|PubMed:10749992, ECO:0000269|PubMed:9860993, ECO:0000269|Ref.4}; IsoId=O95467-1; Sequence=Displayed; Note=Shares no sequence similarity with other isoforms due to a novel first exon containing the entire reading frame spliced to shared exon 2 so that exons 2-13 make up the 3'-UTR.; Name=XLas-1; IsoId=Q5JWF2-1; Sequence=External; Note=Gene prediction confirmed by EST data.; Name=XLas-2; IsoId=Q5JWF2-2; Sequence=External; Note=Gene prediction confirmed by EST data.; Name=XLas-3; IsoId=Q5JWF2-3; Sequence=External; Name=Gnas-1 {ECO:0000305}; Synonyms=Alpha-S2 {ECO:0000305}, GNASl {ECO:0000305}, Alpha-S-long {ECO:0000305}; IsoId=P63092-1, P04895-1; Sequence=External; Name=Gnas-2 {ECO:0000305}; Synonyms=Alpha-S1 {ECO:0000305}, GNASs {ECO:0000305}, Alpha-S-short {ECO:0000305}; IsoId=P63092-2, P04895-2; Sequence=External; Name=3; IsoId=P63092-3; Sequence=External; Note=No experimental confirmation available.; Name=4; IsoId=P63092-4; Sequence=External; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle {ECO:0000250}. Secreted {ECO:0000250}. Note=Neuroendocrine secretory granules. {ECO:0000250}.


uniprotID: H3BSY2
geneSymbol: GOLGA8M
name: Golgin subfamily A member 8M
length: 632
go: ENSG00000188626;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:16572171}; IsoId=H3BSY2-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:16572171}; IsoId=H3BSY2-2; Sequence=VSP_044751, VSP_044752, VSP_044753, VSP_044754; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=H3BSY2-3; Sequence=VSP_053442, VSP_044753, VSP_044754; Note=No experimental confirmation available.; 


uniprotID: F8WBI6
geneSymbol: GOLGA8N
name: Golgin subfamily A member 8N
length: 632
go: ENSG00000232653;
sequence:

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


uniprotID: P11488
geneSymbol: GNAT1
reactome: R-HSA-112043;R-HSA-202040;R-HSA-2485179;R-HSA-2514859;R-HSA-418594;R-HSA-6814122;
pdb: 3RBQ;
name: Guanine nucleotide-binding protein G(t) subunit alpha-1 (Transducin alpha-1 chain)
length: 350
go: ENSG00000114349;
drug: DB04315;DB02994;DB04444;
snps: rs104893740 rs786205854 rs786205853
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytosol [GO:0005829]; heterotrimeric G-protein complex [GO:0005834]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; photoreceptor connecting cilium [GO:0032391]; photoreceptor disc membrane [GO:0097381]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; photoreceptor outer segment membrane [GO:0042622]; plasma membrane [GO:0005886]; acyl binding [GO:0000035]; G protein-coupled receptor binding [GO:0001664]; G-protein beta/gamma-subunit complex binding [GO:0031683]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; protein kinase binding [GO:0019901]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cell proliferation [GO:0008283]; cellular response to electrical stimulus [GO:0071257]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; detection of light stimulus involved in visual perception [GO:0050908]; eye photoreceptor cell development [GO:0042462]; negative regulation of cyclic-nucleotide phosphodiesterase activity [GO:0051344]; phototransduction, visible light [GO:0007603]; positive regulation of cyclic-nucleotide phosphodiesterase activity [GO:0051343]; protein folding [GO:0006457]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; response to light intensity [GO:0009642]; response to light stimulus [GO:0009416]; retina development in camera-type eye [GO:0060041]; rhodopsin mediated signaling pathway [GO:0016056]; sensory perception of umami taste [GO:0050917]; signal transduction [GO:0007165]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:P04695}. Membrane {ECO:0000250|UniProtKB:P04695}; Peripheral membrane protein {ECO:0000250|UniProtKB:P04695}.


uniprotID: Q9H2G9
geneSymbol: BLZF1
reactome: R-HSA-162658;
name: Golgin-45 (Basic leucine zipper nuclear factor 1) (JEM-1) (p45 basic leucine-zipper nuclear factor)
length: 400
go: ENSG00000117475;
snps: rs1028180 rs1064274
sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; enzyme binding [GO:0019899]; ubiquitin protein ligase binding [GO:0031625]; cell proliferation [GO:0008283]; Golgi organization [GO:0007030]; Golgi to plasma membrane protein transport [GO:0043001]; regulation of cell growth [GO:0001558]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2G9-1; Sequence=Displayed; Name=2; Synonyms=JEM1s; IsoId=Q9H2G9-2; Sequence=VSP_011186, VSP_011187; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:11739401}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:11056056, ECO:0000269|PubMed:9129147}. Note=Detected in the nucleus upon heterologous expression. Not detected in the cytoplasm. {ECO:0000269|PubMed:11056056, ECO:0000269|PubMed:9129147}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:11056056}. Note=Not detected in the nucleus. {ECO:0000269|PubMed:11056056}.


uniprotID: Q3T906
geneSymbol: GNPTAB
pdb: 2N6D;
length: 1256
go: ENSG00000111670;
name:
N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (EC 2.7.8.17) (GlcNAc-1-phosphotransferase subunits alpha/beta) (Stealth protein GNPTAB) (UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta) [Cleaved into: N-acetylglucosamine-1-phosphotransferase subunit alpha; N-acetylglucosamine-1-phosphotransferase subunit beta]

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]; UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [GO:0003976]; carbohydrate phosphorylation [GO:0046835]; lysosome organization [GO:0007040]; N-glycan processing to lysosome [GO:0016256]; secretion of lysosomal enzymes [GO:0033299]

snps:
rs34159654 rs281864947 rs281864953 rs281864958 rs34946266 rs281864959 rs281864970 rs281864970 rs7958709 rs137852900 rs281865026 rs281864973 rs137852895 rs281864975 rs137853822 rs281864977 rs281864979 rs281864980 rs149390820 rs137853823 rs386765812 rs142172397 rs281864989 rs144060383 rs281865002 rs281865003 rs138390866 rs281865005 rs281865004 rs769587233 rs281865006 rs281865007 rs281865010 rs281865019 rs137853825 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3T906-1; Sequence=Displayed; Name=2; IsoId=Q3T906-2; Sequence=VSP_017338, VSP_017339; 

location:
SUBCELLULAR LOCATION: N-acetylglucosamine-1-phosphotransferase subunit alpha: Golgi apparatus membrane {ECO:0000269|PubMed:16120602, ECO:0000269|PubMed:16200072, ECO:0000269|PubMed:21719679, ECO:0000269|PubMed:23733939, ECO:0000269|PubMed:24375680, ECO:0000269|PubMed:25788519, ECO:0000269|PubMed:28918368}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: N-acetylglucosamine-1-phosphotransferase subunit beta: Golgi apparatus membrane {ECO:0000269|PubMed:16120602, ECO:0000269|PubMed:16200072, ECO:0000269|PubMed:21719679, ECO:0000269|PubMed:23733939, ECO:0000269|PubMed:24375680, ECO:0000269|PubMed:28918368}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q8IX06
geneSymbol: REXO1L1P
name: Putative exonuclease GOR (EC 3.1.-.-) (Antigen GOR homolog) (RNA exonuclease 1 homolog-like 1)
length: 675
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; exonuclease activity [GO:0004527]; nucleic acid binding [GO:0003676]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11472404}. Nucleus {ECO:0000305|PubMed:11472404}.


uniprotID: Q86XS8
geneSymbol: RNF130
reactome: R-HSA-983168;
length: 419
go: ENSG00000113269;
name:
E3 ubiquitin-protein ligase RNF130 (EC 2.3.2.27) (Goliath homolog) (H-Goliath) (RING finger protein 130) (RING-type E3 ubiquitin transferase RNF130)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; apoptotic process [GO:0006915]; programmed cell death [GO:0012501]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86XS8-1; Sequence=Displayed; Name=2; IsoId=Q86XS8-2; Sequence=VSP_055642, VSP_055643; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:16549277}.


uniprotID: Q6ZVE7
geneSymbol: GOLT1A
name: Vesicle transport protein GOT1A (Golgi transport 1 homolog A) (hGOT1b)
length: 132
go: ENSG00000174567;
sequence:
MISITEWQKIGVGITGFGIFFILFGTLLYFDSVLLAFGNLLFLTGLSLIIGLRKTFWFFFQRHKLKGTSFLLGGVVIVLLRWPLLGMFLETYGFFSLFKGFFPVAFGFLGNVCNIPFLGALFRRLQGTSSMV

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi cis cisterna [GO:0000137]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; nuclear envelope [GO:0005635]; trans-Golgi network [GO:0005802]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein transport [GO:0015031]

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


uniprotID: Q9Y3E0
geneSymbol: GOLT1B
length: 138
go: ENSG00000111711;
name:
Vesicle transport protein GOT1B (Germ cell tumor 2) (Golgi transport 1 homolog B) (Putative NF-kappa-B-activating protein 470) (hGOT1a)

sequence:
MISLTDTQKIGMGLTGFGVFFLFFGMILFFDKALLAIGNVLFVAGLAFVIGLERTFRFFFQKHKMKATGFFLGGVFVVLIGWPLIGMIFEIYGFFLLFRGFFPVVVGFIRRVPVLGSLLNLPGIRSFVDKVGESNNMV

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; protein-containing complex [GO:0032991]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; protein transport [GO:0015031]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:10406798}; Multi-pass membrane protein {ECO:0000269|PubMed:10406798}.


uniprotID: Q7Z602
geneSymbol: GPR141
name: Probable G-protein coupled receptor 141 (G-protein coupled receptor PGR13)
length: 305
go: ENSG00000187037;
snps: rs772202718
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q2VIR3
geneSymbol: EIF2S3B
length: 472
go: ENSG00000180574;
name:
Eukaryotic translation initiation factor 2 subunit 3B (Eukaryotic translation initiation factor 2 subunit gamma A) (eIF-2-gamma A) (eIF-2gA)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation initiation factor 2 complex [GO:0005850]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; translation initiation factor activity [GO:0003743]; formation of translation preinitiation complex [GO:0001731]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2VIR3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q2VIR3-2; Sequence=VSP_034711; Note=No experimental confirmation available.; 


uniprotID: Q5VW38
geneSymbol: GPR107
name: Protein GPR107 (Lung seven transmembrane receptor 1)
length: 600
go: ENSG00000148358;
snps: rs640343
sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; early endosome [GO:0005769]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; clathrin heavy chain binding [GO:0032050]; clathrin-dependent endocytosis [GO:0072583]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VW38-1; Sequence=Displayed; Name=2; IsoId=Q5VW38-2; Sequence=VSP_014436; Name=3; IsoId=Q5VW38-3; Sequence=VSP_014434, VSP_014435; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:25031321}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q8NGU9
geneSymbol: GPR150
reactome: R-HSA-418555;
name: Probable G-protein coupled receptor 150
length: 434
go: ENSG00000178015;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; cellular response to hormone stimulus [GO:0032870]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q8TDT2
geneSymbol: GPR152
name: Probable G-protein coupled receptor 152 (G-protein coupled receptor PGR5)
length: 470
go: ENSG00000175514;
snps: rs1638559
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: P41091
geneSymbol: EIF2S3
reactome: R-HSA-156827;R-HSA-382556;R-HSA-72649;R-HSA-72695;R-HSA-72702;R-HSA-72706;R-HSA-72731;
pdb: 6FEC;
length: 472
go: ENSG00000130741;
drug: DB04315;
snps: rs1057515578 rs16997659 rs886040855 rs886040856
name:
Eukaryotic translation initiation factor 2 subunit 3 (Eukaryotic translation initiation factor 2 subunit gamma X) (eIF-2-gamma X) (eIF-2gX)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation initiation factor 2 complex [GO:0005850]; extracellular exosome [GO:0070062]; cadherin binding [GO:0045296]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; formation of translation preinitiation complex [GO:0001731]; translational initiation [GO:0006413]; transmembrane transport [GO:0055085]


uniprotID: Q8NFN8
geneSymbol: GPR156
length: 814
go: ENSG00000175697;
snps: rs902790
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Probable G-protein coupled receptor 156 (G-protein coupled receptor PGR28) (GABAB-related G-protein coupled receptor)

sequence:

opentargets:
G protein-coupled receptor heterodimeric complex [GO:0038039]; plasma membrane [GO:0005886]; G protein-coupled GABA receptor activity [GO:0004965]; gamma-aminobutyric acid signaling pathway [GO:0007214]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NFN8-1; Sequence=Displayed; Name=2; IsoId=Q8NFN8-2; Sequence=VSP_044603; Note=No experimental confirmation available.; 


uniprotID: Q5UAW9
geneSymbol: GPR157
name: G-protein coupled receptor 157
length: 335
go: ENSG00000180758;
sequence:

opentargets:
ciliary membrane [GO:0060170]; integral component of membrane [GO:0016021]; G protein-coupled receptor activity [GO:0004930]; cell surface receptor signaling pathway [GO:0007166]; circadian behavior [GO:0048512]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; radial glial cell differentiation [GO:0060019]

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q8C206}; Multi-pass membrane protein {ECO:0000255}. Note=Expressed in the primary cilia of radial glial progenitors (RGPs) exposed to the cerebrospinal fluid. {ECO:0000250|UniProtKB:Q8C206}.


uniprotID: Q9NS66
geneSymbol: GPR173
name: Probable G-protein coupled receptor 173 (Super conserved receptor expressed in brain 3)
length: 373
go: ENSG00000184194;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; gonadotropin-releasing hormone receptor activity [GO:0004968]; negative regulation of neuron migration [GO:2001223]; signal transduction [GO:0007165]


uniprotID: Q9BXC1
geneSymbol: GPR174
name: Probable G-protein coupled receptor 174
length: 333
go: ENSG00000147138;
snps: rs3827440
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; bioactive lipid receptor activity [GO:0045125]; G protein-coupled receptor activity [GO:0004930]; 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]; T cell homeostasis [GO:0043029]


uniprotID: Q6PRD1
geneSymbol: GPR179
length: 2367
snps: rs281875233 rs281875236 rs281875235 rs281875234 rs55727040 rs4399578 rs4398144 rs4399578
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Probable G-protein coupled receptor 179 (Probable G-protein coupled receptor 158-like 1) (GPR158-like)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; visual perception [GO:0007601]


uniprotID: O15218
geneSymbol: GPR182
name: G-protein coupled receptor 182
length: 404
go: ENSG00000166856;
snps: rs35493121
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]


uniprotID: P55259
geneSymbol: GP2
reactome: R-HSA-163125;
length: 537
go: ENSG00000169347;
name:
Pancreatic secretory granule membrane major glycoprotein GP2 (Pancreatic zymogen granule membrane protein GP-2) (ZAP75)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P55259-1; Sequence=Displayed; Name=Beta; IsoId=P55259-2; Sequence=VSP_006948; Name=Alpha; IsoId=P55259-3; Sequence=VSP_035750; Name=2; IsoId=P55259-4; Sequence=VSP_035749; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}. Secreted {ECO:0000250}. Note=Secreted after cleavage in the pancreatic juice.


uniprotID: O43292
geneSymbol: GPAA1
reactome: R-HSA-162791;
length: 621
go: ENSG00000197858;
snps: rs782220208 rs1010907740
name:
Glycosylphosphatidylinositol anchor attachment 1 protein (GPI anchor attachment protein 1) (GAA1 protein homolog) (hGAA1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; GPI-anchor transamidase complex [GO:0042765]; membrane [GO:0016020]; tubulin binding [GO:0015631]; attachment of GPI anchor to protein [GO:0016255]; protein retention in ER lumen [GO:0006621]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43292-1; Sequence=Displayed; Name=2; IsoId=O43292-2; Sequence=VSP_009542; 

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


uniprotID: Q99795
geneSymbol: GPA33
name: Cell surface A33 antigen (Glycoprotein A33)
length: 319
go: ENSG00000143167;
snps: rs2274531 rs2228399
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]


uniprotID: P35052
geneSymbol: GPC1
pdb: 4ACR;4AD7;4BWE;4YWT;
name: Glypican-1 [Cleaved into: Secreted glypican-1]
length: 558
go: ENSG00000063660;
snps: rs2228331
reactome:
R-HSA-1971475;R-HSA-2022928;R-HSA-2024096;R-HSA-202733;R-HSA-3560783;R-HSA-3560801;R-HSA-3656237;R-HSA-3656253;R-HSA-376176;R-HSA-4420332;R-HSA-975634;

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; intrinsic component of plasma membrane [GO:0031226]; lysosomal lumen [GO:0043202]; membrane raft [GO:0045121]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; synapse [GO:0045202]; copper ion binding [GO:0005507]; fibroblast growth factor binding [GO:0017134]; laminin binding [GO:0043236]; axon guidance [GO:0007411]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan catabolic process [GO:0006027]; heparan sulfate proteoglycan catabolic process [GO:0030200]; leukocyte migration [GO:0050900]; myelin assembly [GO:0032288]; negative regulation of fibroblast growth factor receptor signaling pathway [GO:0040037]; positive regulation of skeletal muscle cell differentiation [GO:2001016]; retinoid metabolic process [GO:0001523]; Schwann cell differentiation [GO:0014037]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35052-1; Sequence=Displayed; Name=2; IsoId=P35052-2; Sequence=VSP_055225, VSP_055226, VSP_055227; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side. Endosome. Note=S-nitrosylated form recycled in endosomes. Localizes to CAV1-containing vesicles close to the cell surface. Cleavage of heparan sulfate side chains takes place mainly in late endosomes. Associates with both forms of PRNP in lipid rafts. Colocalizes with APP in perinuclear compartments and with CP in intracellular compartments. Associates with fibrillar APP amyloid-beta peptides in lipid rafts in Alzheimer disease brains.; SUBCELLULAR LOCATION: Secreted glypican-1: Secreted, extracellular space.


uniprotID: Q8TDU6
geneSymbol: GPBAR1
reactome: R-HSA-373076;R-HSA-418555;
length: 330
go: ENSG00000179921;
name:
G-protein coupled bile acid receptor 1 (G-protein coupled receptor GPCR19) (hGPCR19) (Membrane-type receptor for bile acids) (M-BAR) (hBG37) (BG37)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bile acid receptor activity [GO:0038181]; G protein-coupled bile acid receptor activity [GO:0038182]; cell surface bile acid receptor signaling pathway [GO:0038184]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of bicellular tight junction assembly [GO:2000810]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12524422}; Multi-pass membrane protein {ECO:0000269|PubMed:12524422}.


uniprotID: Q9HC44
geneSymbol: GPBP1L1
name: Vasculin-like protein 1 (GC-rich promoter-binding protein 1-like 1)
length: 474
go: ENSG00000159592;
snps: rs36067922 rs12093126
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription, DNA-templated [GO:0006351]


uniprotID: O75487
geneSymbol: GPC4
name: Glypican-4 (K-glypican) [Cleaved into: Secreted glypican-4]
length: 556
go: ENSG00000076716;
snps: rs1129980 rs1048369
reactome:
R-HSA-1971475;R-HSA-2022928;R-HSA-2024096;R-HSA-3560783;R-HSA-3560801;R-HSA-3656237;R-HSA-3656253;R-HSA-4420332;R-HSA-975634;

sequence:

opentargets:
anchored component of presynaptic membrane [GO:0099026]; collagen-containing extracellular matrix [GO:0062023]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway [GO:1904929]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan catabolic process [GO:0006027]; regulation of neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0098696]; regulation of presynapse assembly [GO:1905606]; regulation of signal transduction [GO:0009966]; retinoid metabolic process [GO:0001523]; synaptic membrane adhesion [GO:0099560]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75487-1; Sequence=Displayed; Name=2; IsoId=O75487-2; Sequence=VSP_056570; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}; Extracellular side {ECO:0000250}.; SUBCELLULAR LOCATION: Secreted glypican-4: Secreted, extracellular space {ECO:0000250}.


uniprotID: P78333
geneSymbol: GPC5
name: Glypican-5 [Cleaved into: Secreted glypican-5]
length: 572
go: ENSG00000179399;
snps: rs553717
reactome:
R-HSA-1971475;R-HSA-2022928;R-HSA-2024096;R-HSA-3560783;R-HSA-3560801;R-HSA-3656237;R-HSA-3656253;R-HSA-4420332;R-HSA-5362798;R-HSA-975634;

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; lysosomal lumen [GO:0043202]; plasma membrane [GO:0005886]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan catabolic process [GO:0006027]; regulation of signal transduction [GO:0009966]; retinoid metabolic process [GO:0001523]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}; Extracellular side {ECO:0000250}.; SUBCELLULAR LOCATION: Secreted glypican-5: Secreted, extracellular space {ECO:0000250}.


uniprotID: Q5T6X5
geneSymbol: GPRC6A
reactome: R-HSA-416476;R-HSA-420499;
length: 926
go: ENSG00000173612;
snps: rs2274911 rs28360548 rs35937022
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
name:
G-protein coupled receptor family C group 6 member A (hGPRC6A) (G-protein coupled receptor GPCR33) (hGPCR33)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; calcium-mediated signaling [GO:0019722]; G protein-coupled receptor signaling pathway [GO:0007186]; response to amino acid [GO:0043200]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T6X5-1; Sequence=Displayed; Note=Major isoform.; Name=2; IsoId=Q5T6X5-2; Sequence=VSP_016454; Name=3; IsoId=Q5T6X5-3; Sequence=VSP_016455; 


uniprotID: Q8N335
geneSymbol: GPD1L
reactome: R-HSA-1483166;
pdb: 2PLA;
name: Glycerol-3-phosphate dehydrogenase 1-like protein (GPD1-L) (EC 1.1.1.8)
length: 351
go: ENSG00000152642;
snps: rs72552292 rs72552293 rs35447795 rs72552294 rs72552291
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glycerol-3-phosphate dehydrogenase complex [GO:0009331]; plasma membrane [GO:0005886]; glycerol-3-phosphate dehydrogenase [NAD(P)+] activity [GO:0047952]; glycerol-3-phosphate dehydrogenase [NAD+] activity [GO:0004367]; ion channel binding [GO:0044325]; NAD binding [GO:0051287]; protein homodimerization activity [GO:0042803]; sodium channel regulator activity [GO:0017080]; carbohydrate metabolic process [GO:0005975]; glycerol-3-phosphate catabolic process [GO:0046168]; glycerol-3-phosphate metabolic process [GO:0006072]; NAD metabolic process [GO:0019674]; NADH oxidation [GO:0006116]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of protein kinase C signaling [GO:0090038]; phosphatidic acid biosynthetic process [GO:0006654]; positive regulation of protein localization to cell surface [GO:2000010]; positive regulation of sodium ion transport [GO:0010765]; regulation of heart rate [GO:0002027]; regulation of sodium ion transmembrane transporter activity [GO:2000649]; regulation of ventricular cardiac muscle cell membrane depolarization [GO:0060373]; ventricular cardiac muscle cell action potential [GO:0086005]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17967977}. Note=Localized to the region of the plasma membrane.


uniprotID: Q53G44
geneSymbol: IFI44L
name: Interferon-induced protein 44-like
length: 452
go: ENSG00000137959;
snps: rs273259 rs34932081 rs273258 rs3820093 rs987495 rs1981071 rs35466823
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; GTP binding [GO:0005525]; defense response to virus [GO:0051607]; immune response [GO:0006955]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53G44-1; Sequence=Displayed; Name=2; IsoId=Q53G44-2; Sequence=VSP_036554, VSP_036555; Note=No experimental confirmation available.; 


uniprotID: B7ZAQ6
geneSymbol: GPR89A
length: 455
name:
Golgi pH regulator A (Protein GPR89A) (Putative MAPK-activating protein PM01) (Putative NF-kappa-B-activating protein 90)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; Golgi-associated vesicle membrane [GO:0030660]; integral component of membrane [GO:0016021]; voltage-gated anion channel activity [GO:0008308]; intracellular pH reduction [GO:0051452]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; protein transport [GO:0015031]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=B7ZAQ6-1; Sequence=Displayed; Name=2; IsoId=B7ZAQ6-2; Sequence=VSP_017247; Name=3; IsoId=B7ZAQ6-3; Sequence=VSP_039346; Name=4; Synonyms=A; IsoId=B7ZAQ6-4; Sequence=VSP_055892, VSP_055893; 


uniprotID: Q99527
geneSymbol: GPER1
reactome: R-HSA-375276;R-HSA-418594;
length: 375
go: ENSG00000164850;
snps: rs11544331
name:
G-protein coupled estrogen receptor 1 (Chemoattractant receptor-like 2) (Flow-induced endothelial G-protein coupled receptor 1) (FEG-1) (G protein-coupled estrogen receptor 1) (G-protein coupled receptor 30) (GPCR-Br) (IL8-related receptor DRY12) (Lymphocyte-derived G-protein coupled receptor) (LYGPR) (Membrane estrogen receptor) (mER)

sequence:

opentargets:
axon [GO:0030424]; axon terminus [GO:0043679]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; dendrite [GO:0030425]; dendritic shaft [GO:0043198]; dendritic spine head [GO:0044327]; dendritic spine membrane [GO:0032591]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; keratin filament [GO:0045095]; mitochondrial membrane [GO:0031966]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; presynaptic active zone [GO:0048786]; presynaptic membrane [GO:0042734]; recycling endosome [GO:0055037]; trans-Golgi network [GO:0005802]; chromatin binding [GO:0003682]; estrogen receptor activity [GO:0030284]; G protein-coupled receptor activity [GO:0004930]; mineralocorticoid receptor activity [GO:0017082]; steroid binding [GO:0005496]; steroid hormone binding [GO:1990239]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; apoptotic chromosome condensation [GO:0030263]; cell cycle [GO:0007049]; cellular response to estradiol stimulus [GO:0071392]; cellular response to glucose stimulus [GO:0071333]; cellular response to mineralocorticoid stimulus [GO:0071389]; cellular response to peptide hormone stimulus [GO:0071375]; cellular response to tumor necrosis factor [GO:0071356]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of cell cycle process [GO:0010948]; negative regulation of cell proliferation [GO:0008285]; negative regulation of DNA metabolic process [GO:0051053]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of gene expression [GO:0010629]; negative regulation of inflammatory response [GO:0050728]; negative regulation of leukocyte activation [GO:0002695]; negative regulation of lipid biosynthetic process [GO:0051055]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; neuronal action potential [GO:0019228]; nuclear fragmentation involved in apoptotic nuclear change [GO:0030264]; positive regulation of apoptotic process [GO:0043065]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of cardiac vascular smooth muscle cell differentiation [GO:2000724]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of G protein-coupled receptor signaling pathway [GO:0045745]; positive regulation of gene expression [GO:0010628]; positive regulation of inositol trisphosphate biosynthetic process [GO:0032962]; positive regulation of insulin secretion [GO:0032024]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of neurogenesis [GO:0050769]; positive regulation of neurotransmitter secretion [GO:0001956]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of uterine smooth muscle contraction [GO:0070474]; regulation of cytosolic calcium ion concentration [GO:0051480]; steroid hormone mediated signaling pathway [GO:0043401]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm {ECO:0000250}. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Early endosome. Recycling endosome. Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, dendrite {ECO:0000250}. Cell projection, dendritic spine membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell projection, axon {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Mitochondrion membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Colocalized with BSN to the active zone of presynaptic density. Colocalized with DLG4/PSD95 and neurabin-2 PPP1R9B in neuronal synaptosomes (By similarity). Endocytosed in a agonist- and arrestin-independent manner. Colocalized with RAMP3 and clathrin-coated pits at the plasma membrane. Colocalized with transferrin receptor at the plasma membrane and perinuclear region. Accumulated and colocalized with RAB11 proteins in recycling endosomes and trans-Golgi network (TGN), but does neither recycle back to the cell surface nor traffics to late endosome or lysosome. Colocalized with calnexin in the endoplasmic reticulum. Traffics to intracellular sites via cytokeratin intermediate filaments like KRT7 and KRT8 after constitutive endocytosis in epithelial cells. Colocalized with EGFR in the nucleus of agonist-induced cancer-associated fibroblasts (CAF). {ECO:0000250}.


uniprotID: Q92917
geneSymbol: GPKOW
reactome: R-HSA-72163;
length: 476
go: ENSG00000068394;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21880142, ECO:0000269|PubMed:25296192}.
name:
G-patch domain and KOW motifs-containing protein (G-patch domain-containing protein 5) (Protein MOS2 homolog) (Protein T54)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]


uniprotID: P78344
geneSymbol: EIF4G2
reactome: R-HSA-1169408;
pdb: 3D3M;3L6A;4IUL;
length: 907
go: ENSG00000110321;
snps: rs34885591
name:
Eukaryotic translation initiation factor 4 gamma 2 (eIF-4-gamma 2) (eIF-4G 2) (eIF4G 2) (Death-associated protein 5) (DAP-5) (p97)

sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cytosol [GO:0005829]; eukaryotic translation initiation factor 4F complex [GO:0016281]; membrane [GO:0016020]; cadherin binding [GO:0045296]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; cell cycle arrest [GO:0007050]; cell death [GO:0008219]; cellular macromolecule biosynthetic process [GO:0034645]; negative regulation of autophagy [GO:0010507]; positive regulation of cell growth [GO:0030307]; regulation of translational initiation [GO:0006446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78344-1; Sequence=Displayed; Name=2; IsoId=P78344-2; Sequence=VSP_038726; Note=No experimental confirmation available.; 


uniprotID: Q15056
geneSymbol: EIF4H
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72662;R-HSA-72702;R-HSA-72706;
length: 248
go: ENSG00000106682;
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250}.
name:
Eukaryotic translation initiation factor 4H (eIF-4H) (Williams-Beuren syndrome chromosomal region 1 protein)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic translation initiation factor 4F complex [GO:0016281]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; polysome [GO:0005844]; cadherin binding [GO:0045296]; helicase activity [GO:0004386]; ribosomal small subunit binding [GO:0043024]; RNA binding [GO:0003723]; RNA strand annealing activity [GO:0033592]; RNA strand-exchange activity [GO:0034057]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; cytoplasmic translation [GO:0002181]; developmental growth [GO:0048589]; eukaryotic translation initiation factor 4F complex assembly [GO:0097010]; formation of translation preinitiation complex [GO:0001731]; regulation of translational initiation [GO:0006446]; sexual reproduction [GO:0019953]; translational initiation [GO:0006413]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q15056-1; Sequence=Displayed; Name=Short; IsoId=Q15056-2; Sequence=VSP_005799; 


uniprotID: Q96M15
geneSymbol: IGF2BP2-AS1
length: 143
name:
Putative uncharacterized protein IGF2BP2-AS1 (IGF2BP2 antisense RNA 1) (IGF2BP2 antisense gene protein 1)

sequence:
MATPLDNCLRPFPDPMVKVTAETKKISEVSSYVSANNKKNSFWGSGLLYPVALLRCQDCWAGHQTHVLSKEFTSYFSSGAGREAQHQPSAVLGSLIWLRRVYLLRAMVVHGGSQPCQRWLVIRMEVGGHPSFPGHAWLTFHLN


uniprotID: Q14330
geneSymbol: GPR18
reactome: R-HSA-373076;R-HSA-418594;
name: N-arachidonyl glycine receptor (NAGly receptor) (G-protein coupled receptor 18)
length: 331
go: ENSG00000125245;
drug: DB00145;
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; CD8-positive, alpha-beta intraepithelial T cell differentiation [GO:0002300]; CD8-positive, gamma-delta intraepithelial T cell differentiation [GO:0002305]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of leukocyte chemotaxis [GO:0002689]; negative regulation of tumor necrosis factor production [GO:0032720]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of Rho protein signal transduction [GO:0035025]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24762058, ECO:0000269|PubMed:27018161}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:24762058}.


uniprotID: Q15011
geneSymbol: HERPUD1
reactome: R-HSA-380994;
pdb: 1WGD;
length: 391
go: ENSG00000051108;
snps: rs2217332
name:
Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein (Methyl methanesulfonate (MMF)-inducible fragment protein 1)

sequence:

opentargets:
calcium channel complex [GO:0034704]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Lewy body core [GO:1990037]; membrane [GO:0016020]; ion channel binding [GO:0044325]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of ER-associated ubiquitin-dependent protein catabolic process [GO:1903071]; positive regulation of protein binding [GO:0032092]; regulation of protein ubiquitination [GO:0031396]; response to endoplasmic reticulum stress [GO:0034976]; response to unfolded protein [GO:0006986]; retrograde protein transport, ER to cytosol [GO:0030970]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q15011-1; Sequence=Displayed; Name=2; IsoId=Q15011-2; Sequence=VSP_006708; Name=3; IsoId=Q15011-3; Sequence=VSP_006708, VSP_006709; Name=4; IsoId=Q15011-4; Sequence=VSP_047333; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10922362}; Multi-pass membrane protein {ECO:0000269|PubMed:10922362}.


uniprotID: Q9BSE4
geneSymbol: HERPUD2
pdb: 2KDB;
name: Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein
length: 406
go: ENSG00000122557;
snps: rs3779234 rs2305335
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; response to unfolded protein [GO:0006986]; spermatogenesis [GO:0007283]


uniprotID: Q6GPH6
geneSymbol: ITPRIPL1
name: Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1
length: 555
go: ENSG00000198885;
opentargets: integral component of membrane [GO:0016021]; membrane [GO:0016020]
snps: rs17853311 rs35855657 rs2279105
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6GPH6-1; Sequence=Displayed; Name=2; IsoId=Q6GPH6-2; Sequence=VSP_031666; Name=3; IsoId=Q6GPH6-3; Sequence=VSP_054316; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q8WVB3
geneSymbol: HEXD
length: 486
go: ENSG00000169660;
snps: rs4789773 rs17853433
name:
Hexosaminidase D (EC 3.2.1.52) (Beta-N-acetylhexosaminidase) (Beta-hexosaminidase D) (Hexosaminidase domain-containing protein) (N-acetyl-beta-galactosaminidase)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; beta-N-acetylhexosaminidase activity [GO:0004563]; hexosaminidase activity [GO:0015929]; N-acetyl-beta-D-galactosaminidase activity [GO:0102148]; carbohydrate metabolic process [GO:0005975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WVB3-1; Sequence=Displayed; Name=2; IsoId=Q8WVB3-2; Sequence=VSP_030777; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q3U4H6}. Nucleus {ECO:0000250|UniProtKB:Q3U4H6}. Extracellular vesicle {ECO:0000269|PubMed:23099419}.


uniprotID: Q9Y543
geneSymbol: HES2
length: 173
go: ENSG00000069812;
snps: rs2235687
name:
Transcription factor HES-2 (Class B basic helix-loop-helix protein 40) (bHLHb40) (Hairy and enhancer of split 2)

sequence:
MGLPRRAGDAAELRKSLKPLLEKRRRARINQSLSQLKGLILPLLGRENSNCSKLEKADVLEMTVRFLQELPASSWPTAAPLPCDSYREGYSACVARLARVLPACRVLEPAVSARLLEHLWRRAASATLDGGRAGDSSGPSAPAPAPASAPEPASAPVPSPPSPPCGPGLWRPW

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cell differentiation [GO:0030154]; Notch signaling pathway [GO:0007219]; regulation of neurogenesis [GO:0050767]; somitogenesis [GO:0001756]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y543-1; Sequence=Displayed; Name=2; IsoId=Q9Y543-2; Sequence=VSP_002104; Note=No experimental confirmation available.; 

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


uniprotID: Q5TGS1
geneSymbol: HES3
length: 186
go: ENSG00000173673;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Transcription factor HES-3 (Class B basic helix-loop-helix protein 43) (bHLHb43) (Hairy and enhancer of split 3)

sequence:
MEKKRRARINVSLEQLKSLLEKHYSHQIRKRKLEKADILELSVKYMRSLQNSLQGLWPVPRGAEQPSGFRSCLPGVSQLLRRGDEVGSGLRCPLVPESAAGSTMDSAGLGQEAPALFRPCTPAVWAPAPAAGGPRSPPPLLLLPESLPGSSASVPPPQPASSRCAESPGLGLRVWRPWGSPGDDLN

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cell differentiation [GO:0030154]; hindbrain morphogenesis [GO:0021575]; in utero embryonic development [GO:0001701]; midbrain development [GO:0030901]; midbrain-hindbrain boundary morphogenesis [GO:0021555]; Notch signaling pathway [GO:0007219]; oculomotor nerve development [GO:0021557]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of neurogenesis [GO:0050767]; regulation of timing of neuron differentiation [GO:0060164]; somitogenesis [GO:0001756]; trochlear nerve development [GO:0021558]


uniprotID: Q9C010
geneSymbol: PKIB
name: cAMP-dependent protein kinase inhibitor beta (PKI-beta)
sequence: MRTDSSKMTDVESGVANFASSARAGRRNALPDIQSSAATDGTSDLPLKLEALSVKEDAKEKDEKTTQDQLEKPQNEEK
length: 78
go: ENSG00000135549;
opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cAMP-dependent protein kinase inhibitor activity [GO:0004862]; negative regulation of cAMP-dependent protein kinase activity [GO:2000480]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C010-1; Sequence=Displayed; Name=2; IsoId=Q9C010-2; Sequence=VSP_046922; Note=Gene prediction based on EST data.; 


uniprotID: Q9Y5J3
geneSymbol: HEY1
reactome: R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;R-HSA-8940973;R-HSA-9013508;R-HSA-9013695;
pdb: 2DB7;
length: 304
go: ENSG00000164683;
name:
Hairy/enhancer-of-split related with YRPW motif protein 1 (Cardiovascular helix-loop-helix factor 2) (CHF-2) (Class B basic helix-loop-helix protein 31) (bHLHb31) (HES-related repressor protein 1) (Hairy and enhancer of split-related protein 1) (HESR-1) (Hairy-related transcription factor 1) (HRT-1) (hHRT1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; microsatellite binding [GO:0035939]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding [GO:0000983]; transcription factor binding [GO:0008134]; angiogenesis [GO:0001525]; arterial endothelial cell differentiation [GO:0060842]; atrioventricular valve formation [GO:0003190]; blood vessel development [GO:0001568]; cardiac epithelial to mesenchymal transition [GO:0060317]; cardiac septum morphogenesis [GO:0060411]; cardiac ventricle morphogenesis [GO:0003208]; cell differentiation [GO:0030154]; dorsal aorta morphogenesis [GO:0035912]; endocardial cushion morphogenesis [GO:0003203]; heart development [GO:0007507]; heart trabecula formation [GO:0060347]; labyrinthine layer blood vessel development [GO:0060716]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation [GO:2000820]; negative regulation of transcription regulatory region DNA binding [GO:2000678]; negative regulation of transcription, DNA-templated [GO:0045892]; Notch signaling involved in heart development [GO:0061314]; Notch signaling pathway [GO:0007219]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; pulmonary valve morphogenesis [GO:0003184]; regulation of neurogenesis [GO:0050767]; regulation of vasculogenesis [GO:2001212]; umbilical cord morphogenesis [GO:0036304]; ventricular septum morphogenesis [GO:0060412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5J3-1; Sequence=Displayed; Name=2; IsoId=Q9Y5J3-2; Sequence=VSP_040997; 


uniprotID: Q8NFU5
geneSymbol: IPMK
reactome: R-HSA-1855191;
pdb: 5W2G;5W2H;5W2I;6C8A;
name: Inositol polyphosphate multikinase (EC 2.7.1.151) (Inositol 1,3,4,6-tetrakisphosphate 5-kinase)
length: 416
go: ENSG00000151151;
snps: rs2275443
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12027805}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; inositol tetrakisphosphate 3-kinase activity [GO:0000824]; inositol tetrakisphosphate 5-kinase activity [GO:0047326]; inositol tetrakisphosphate 6-kinase activity [GO:0000825]; inositol-1,4,5-trisphosphate 3-kinase activity [GO:0008440]; inositol-1,4,5-trisphosphate 6-kinase activity [GO:0000823]; inositol phosphate biosynthetic process [GO:0032958]; inositol phosphate metabolic process [GO:0043647]; necroptotic process [GO:0070266]


uniprotID: Q9UI26
geneSymbol: IPO11
name: Importin-11 (Imp11) (Ran-binding protein 11) (RanBP11)
length: 975
go: ENSG00000086200;
snps: rs35107530 rs11544795
sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; protein transporter activity [GO:0008565]; Ran GTPase binding [GO:0008536]; protein import into nucleus [GO:0006606]; ribosomal protein import into nucleus [GO:0006610]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UI26-1; Sequence=Displayed; Name=2; IsoId=Q9UI26-2; Sequence=VSP_041420; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11032817}. Nucleus {ECO:0000269|PubMed:11032817}.


uniprotID: Q8TEX9
geneSymbol: IPO4
pdb: 5XAH;5XBK;
name: Importin-4 (Imp4) (Importin-4b) (Imp4b) (Ran-binding protein 4) (RanBP4)
length: 1081
go: ENSG00000196497;
snps: rs7146310 rs11550452
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nuclear chromatin [GO:0000790]; nuclear membrane [GO:0031965]; nuclear periphery [GO:0034399]; protein-containing complex [GO:0032991]; nuclear localization sequence binding [GO:0008139]; Ran GTPase binding [GO:0008536]; DNA replication-dependent nucleosome assembly [GO:0006335]; DNA replication-independent nucleosome assembly [GO:0006336]; NLS-bearing protein import into nucleus [GO:0006607]; protein import into nucleus [GO:0006606]; ribosomal protein import into nucleus [GO:0006610]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TEX9-1; Sequence=Displayed; Name=2; IsoId=Q8TEX9-2; Sequence=VSP_009339; Note=No experimental confirmation available.; 


uniprotID: O00410
geneSymbol: IPO5
reactome: R-HSA-192905;
name: Importin-5 (Imp5) (Importin subunit beta-3) (Karyopherin beta-3) (Ran-binding protein 5) (RanBP5)
length: 1097
go: ENSG00000065150;
snps: rs1053814 rs632729 rs484770 rs1804740 rs1804741
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; nuclear periphery [GO:0034399]; nuclear pore [GO:0005643]; nucleolus [GO:0005730]; nucleus [GO:0005634]; GTPase inhibitor activity [GO:0005095]; nuclear localization sequence binding [GO:0008139]; protein transporter activity [GO:0008565]; Ran GTPase binding [GO:0008536]; RNA binding [GO:0003723]; cellular response to amino acid stimulus [GO:0071230]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; NLS-bearing protein import into nucleus [GO:0006607]; positive regulation of protein import into nucleus [GO:0042307]; ribosomal protein import into nucleus [GO:0006610]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O00410-1; Sequence=Displayed; Name=2; IsoId=O00410-2; Sequence=VSP_037587; Name=3; IsoId=O00410-3; Sequence=VSP_037774; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus, nucleolus. Note=Nucleus; nuclear rim. Found particularly in the nuclear rim and nucleolus.


uniprotID: O95373
geneSymbol: IPO7
name: Importin-7 (Imp7) (Ran-binding protein 7) (RanBP7)
length: 1038
go: ENSG00000205339;
snps: rs11042340
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; GTPase regulator activity [GO:0030695]; histone binding [GO:0042393]; protein transporter activity [GO:0008565]; Ran GTPase binding [GO:0008536]; SMAD binding [GO:0046332]; transporter activity [GO:0005215]; innate immune response [GO:0045087]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; protein import into nucleus [GO:0006606]; signal transduction [GO:0007165]; viral process [GO:0016032]


uniprotID: Q96P70
geneSymbol: IPO9
name: Importin-9 (Imp9) (Ran-binding protein 9) (RanBP9)
length: 1041
go: ENSG00000198700;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; histone binding [GO:0042393]; protein transporter activity [GO:0008565]; Ran GTPase binding [GO:0008536]; protein import into nucleus [GO:0006606]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11823430}. Nucleus {ECO:0000269|PubMed:11823430}.


uniprotID: O14990
geneSymbol: PPP1R2C
length: 202
go: ENSG00000102055;
name:
Protein phosphatase inhibitor 2 family member C (PPP1R2 family member B) (Protein phosphatase 1, regulatory subunit 2 pseudogene 9) (Type-1 protein phosphatase inhibitor 4) (I-4)

sequence:

opentargets:
protein phosphatase inhibitor activity [GO:0004864]; regulation of phosphoprotein phosphatase activity [GO:0043666]; regulation of signal transduction [GO:0009966]


uniprotID: Q96PQ5
geneSymbol: PPP1R2P1
length: 205
name:
Putative protein phosphatase inhibitor 2-like protein 1 (Protein phosphatase 1, regulatory subunit 2 pseudogene 1)

sequence:

opentargets:
protein phosphatase inhibitor activity [GO:0004864]; glycogen metabolic process [GO:0005977]; regulation of phosphoprotein phosphatase activity [GO:0043666]; regulation of signal transduction [GO:0009966]


uniprotID: Q9H8X2
geneSymbol: IPPK
reactome: R-HSA-1855167;R-HSA-1855191;
length: 491
go: ENSG00000127080;
snps: rs2277168 rs2277170
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
Inositol-pentakisphosphate 2-kinase (EC 2.7.1.158) (IPK1 homolog) (Inositol-1,3,4,5,6-pentakisphosphate 2-kinase) (Ins(1,3,4,5,6)P5 2-kinase) (InsP5 2-kinase)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; inositol pentakisphosphate 2-kinase activity [GO:0035299]; protein-containing complex scaffold activity [GO:0032947]; inositol phosphate biosynthetic process [GO:0032958]; inositol phosphate metabolic process [GO:0043647]; inositol phosphorylation [GO:0052746]; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901838]


uniprotID: Q9Y573
geneSymbol: IPP
length: 584
go: ENSG00000197429;
opentargets: actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; actin binding [GO:0003779]
snps: rs28375469
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
name:
Actin-binding protein IPP (Intracisternal A particle-promoted polypeptide) (IPP) (Kelch-like protein 27)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y573-1; Sequence=Displayed; Name=2; IsoId=Q9Y573-2; Sequence=VSP_040993; 


uniprotID: P05154
geneSymbol: SERPINA5
reactome: R-HSA-140837;R-HSA-140875;
pdb: 1LQ8;1PAI;2HI9;2OL2;2PAI;3DY0;
length: 406
go: ENSG00000188488;
drug: DB00055;DB05413;DB00013;
snps: rs2069975 rs6118 rs6115 rs2069976 rs6119 rs2069999 rs6120 rs6114
name:
Plasma serine protease inhibitor (Acrosomal serine protease inhibitor) (Plasminogen activator inhibitor 3) (PAI-3) (PAI3) (Protein C inhibitor) (PCI) (Serpin A5)

sequence:

opentargets:
acrosomal membrane [GO:0002080]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; platelet alpha granule [GO:0031091]; platelet dense tubular network [GO:0031094]; protein C inhibitor-coagulation factor V complex [GO:0097181]; protein C inhibitor-coagulation factor Xa complex [GO:0097182]; protein C inhibitor-coagulation factor XI complex [GO:0097183]; protein C inhibitor-KLK3 complex [GO:0036029]; protein C inhibitor-plasma kallikrein complex [GO:0036030]; protein C inhibitor-PLAT complex [GO:0036026]; protein C inhibitor-PLAU complex [GO:0036027]; protein C inhibitor-thrombin complex [GO:0036028]; protein C inhibitor-TMPRSS11E complex [GO:0036025]; protein C inhibitor-TMPRSS7 complex [GO:0036024]; protein-containing complex [GO:0032991]; acrosin binding [GO:0032190]; glycosaminoglycan binding [GO:0005539]; heparin binding [GO:0008201]; phosphatidylcholine binding [GO:0031210]; protease binding [GO:0002020]; retinoic acid binding [GO:0001972]; serine-type endopeptidase inhibitor activity [GO:0004867]; blood coagulation [GO:0007596]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]; lipid transport [GO:0006869]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of hydrolase activity [GO:0051346]; seminal vesicle development [GO:0061107]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000269|PubMed:1725227, ECO:0000269|PubMed:18467335, ECO:0000269|PubMed:7521127, ECO:0000269|PubMed:8536714, ECO:0000269|PubMed:9510955, ECO:0000269|PubMed:9556620}. Note=Localized on the plasma membrane overlying the acrosomal head of spermatozoa of ependymal spermatozoa and ejaculated sperm. Localized at the equatorial segment of acrosome-reacted spematozoa. Localized in alpha granules in resting platelets and on the external plasma membrane and within the surface-connected cannalicular system in activated platelets.


uniprotID: Q9H2U2
geneSymbol: PPA2
reactome: R-HSA-379726;R-HSA-71737;
length: 334
go: ENSG00000138777;
snps: rs1057517679 rs1057517680 rs139076647 rs546693824 rs146013446 rs138215926 rs13787 rs1057517678
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Inorganic pyrophosphatase 2, mitochondrial (EC 3.6.1.1) (Pyrophosphatase SID6-306) (Pyrophosphate phospho-hydrolase 2) (PPase 2)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; inorganic diphosphatase activity [GO:0004427]; magnesium ion binding [GO:0000287]; protein serine/threonine phosphatase activity [GO:0004722]; diphosphate metabolic process [GO:0071344]; phosphate-containing compound metabolic process [GO:0006796]; regulation of mitochondrial membrane potential [GO:0051881]; tRNA aminoacylation for protein translation [GO:0006418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9H2U2-1; Sequence=Displayed; Name=2; IsoId=Q9H2U2-2; Sequence=VSP_011651; Note=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=Q9H2U2-3; Sequence=VSP_011652; Name=4; IsoId=Q9H2U2-4; Sequence=VSP_011649, VSP_011650; Note=No experimental confirmation available.; Name=5; IsoId=Q9H2U2-6; Sequence=VSP_046256; Note=No experimental confirmation available.; 


uniprotID: Q15181
geneSymbol: PPA1
reactome: R-HSA-379716;R-HSA-71737;
name: Inorganic pyrophosphatase (EC 3.6.1.1) (Pyrophosphate phospho-hydrolase) (PPase)
length: 289
go: ENSG00000180817;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; inorganic diphosphatase activity [GO:0004427]; magnesium ion binding [GO:0000287]; diphosphate metabolic process [GO:0071344]; phosphate-containing compound metabolic process [GO:0006796]; tRNA aminoacylation for protein translation [GO:0006418]


uniprotID: A6NCM1
geneSymbol: IQCA1L
name: IQ and AAA domain-containing protein 1-like (IQ and AAA domain-containing protein 1 pseudogene 1)
length: 818
opentargets: ATP binding [GO:0005524]
sequence:


uniprotID: Q15051
geneSymbol: IQCB1
reactome: R-HSA-5620912;
length: 598
go: ENSG00000173226;
snps: rs11926958 rs1141528 rs17849995 rs11920543
name:
IQ calmodulin-binding motif-containing protein 1 (Nephrocystin-5) (p53 and DNA damage-regulated IQ motif protein) (PIQ)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intercellular bridge [GO:0045171]; microtubule cytoskeleton [GO:0015630]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; photoreceptor connecting cilium [GO:0032391]; photoreceptor outer segment [GO:0001750]; calmodulin binding [GO:0005516]; enzyme binding [GO:0019899]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; maintenance of animal organ identity [GO:0048496]; photoreceptor cell maintenance [GO:0045494]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=PIQ-L; IsoId=Q15051-1; Sequence=Displayed; Name=2; Synonyms=PIQ-S; IsoId=Q15051-2; Sequence=VSP_010245; Note=Low abundance isoform. {ECO:0000305}; Name=3; IsoId=Q15051-3; Sequence=VSP_013943, VSP_013944; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:21565611}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:23446637}. Note=Localization to the centrosome depends on the interaction with CEP290/NPHP6.


uniprotID: P14210
geneSymbol: HGF
length: 728
go: ENSG00000019991;
drug: DB05434;DB02264;DB05030;
snps: rs5745687 rs5745688
reactome:
R-HSA-114608;R-HSA-1257604;R-HSA-1266695;R-HSA-2219530;R-HSA-5673001;R-HSA-6785807;R-HSA-6806942;R-HSA-6807004;R-HSA-6811558;R-HSA-8851805;R-HSA-8851907;R-HSA-8865999;R-HSA-8874081;R-HSA-8875513;R-HSA-8875555;R-HSA-8875656;R-HSA-8875791;

pdb:
1BHT;1GMN;1GMO;1GP9;1NK1;1SHY;1SI5;2HGF;2QJ2;3HMS;3HMT;3HN4;3MKP;3SP8;4D3C;4K3J;4O3T;4O3U;5COE;5CP9;5CS1;5CS3;5CS5;5CS9;5CSQ;5CT1;5CT2;5CT3;

name:
Hepatocyte growth factor (Hepatopoietin-A) (Scatter factor) (SF) [Cleaved into: Hepatocyte growth factor alpha chain; Hepatocyte growth factor beta chain]

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; platelet alpha granule lumen [GO:0031093]; chemoattractant activity [GO:0042056]; growth factor activity [GO:0008083]; identical protein binding [GO:0042802]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein heterodimerization activity [GO:0046982]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; serine-type endopeptidase activity [GO:0004252]; activation of MAPK activity [GO:0000187]; animal organ regeneration [GO:0031100]; cell chemotaxis [GO:0060326]; cell morphogenesis [GO:0000902]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; cytokine-mediated signaling pathway [GO:0019221]; epithelial to mesenchymal transition [GO:0001837]; hepatocyte growth factor receptor signaling pathway [GO:0048012]; hyaluronan metabolic process [GO:0030212]; liver development [GO:0001889]; MAPK cascade [GO:0000165]; mitotic cell cycle [GO:0000278]; myoblast proliferation [GO:0051450]; negative regulation of apoptotic process [GO:0043066]; negative regulation of autophagy [GO:0010507]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of hydrogen peroxide-mediated programmed cell death [GO:1901299]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; platelet degranulation [GO:0002576]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell migration [GO:0030335]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of myelination [GO:0031643]; positive regulation of neuron projection regeneration [GO:0070572]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling [GO:0060665]; regulation of p38MAPK cascade [GO:1900744]; regulation of tau-protein kinase activity [GO:1902947]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=P14210-1; Sequence=Displayed; Name=2; IsoId=P14210-2; Sequence=VSP_009622, VSP_009623; Name=3; IsoId=P14210-3; Sequence=VSP_009617; Name=4; Synonyms=HGF/NK2; IsoId=P14210-4; Sequence=VSP_009620, VSP_009621; Note=Acts as a competitive antagonist in MET-signaling.; Name=5; IsoId=P14210-5; Sequence=VSP_009617, VSP_009622, VSP_009623; Note=No experimental confirmation available.; Name=6; Synonyms=HGF/NK1; IsoId=P14210-6; Sequence=VSP_009618, VSP_009619; 


uniprotID: Q1A5X6
geneSymbol: IQCJ
name: IQ domain-containing protein J
length: 159
go: ENSG00000214216;
sequence:
MRLEELKRLQNPLEQVNDGKYSFENHQLAMDAENNIEKYPLNLQPLESKVKIIQRAWREYLQRQEPLGKRSPSPPSVSSEKLSSSVSMNTFSDSSTPFARAPVGKIHPYISWRLQSPGDKLPGGRKVILLYLDQLARPTGFIHTLKEPQIERLGFLTLQ

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=IQCJ-1; IsoId=Q1A5X6-1; Sequence=Displayed; Name=IQCJ-2; IsoId=Q1A5X6-2; Sequence=VSP_030597; Name=IQCJ-3; IsoId=Q1A5X6-3; Sequence=VSP_043259; Note=No experimental confirmation available.; Name=IQCJ-SCHIP1-1; IsoId=B3KU38-1; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an IQCJ-SCHIP1 fusion protein. {ECO:0000269|PubMed:17045569}; Name=IQCJ-SCHIP1-2; IsoId=B3KU38-2; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an IQCJ-SCHIP1 fusion protein. {ECO:0000269|PubMed:17045569}; 


uniprotID: Q8N0W5
geneSymbol: IQCK
name: IQ domain-containing protein K
length: 287
go: ENSG00000174628;
snps: rs7191155
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N0W5-1; Sequence=Displayed; Name=2; IsoId=Q8N0W5-2; Sequence=VSP_024205, VSP_024206; Name=3; IsoId=Q8N0W5-3; Sequence=VSP_024204, VSP_024207; Note=Gene prediction based on EST data. No experimental confirmation available.; 


uniprotID: A0A1B0GVH7
geneSymbol: IQCM
name: IQ domain-containing protein M
length: 501
go: ENSG00000234828;
sequence:


uniprotID: Q9BTY7
geneSymbol: HGH1
name: Protein HGH1 homolog
length: 390
go: ENSG00000235173;
sequence:


uniprotID: Q6DN90
geneSymbol: IQSEC1
pdb: 3QWM;4C0A;5NLV;5NLY;
length: 963
go: ENSG00000144711;
snps: rs35319679 rs17541405
name:
IQ motif and SEC7 domain-containing protein 1 (ADP-ribosylation factors guanine nucleotide-exchange protein 100) (ADP-ribosylation factors guanine nucleotide-exchange protein 2) (Brefeldin-resistant Arf-GEF 2 protein) (BRAG2)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleolus [GO:0005730]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; lipid binding [GO:0008289]; actin cytoskeleton organization [GO:0030036]; positive regulation of adherens junction organization [GO:1903393]; positive regulation of GTPase activity [GO:0043547]; positive regulation of keratinocyte migration [GO:0051549]; regulation of ARF protein signal transduction [GO:0032012]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=BRAG2b; IsoId=Q6DN90-1; Sequence=Displayed; Name=2; Synonyms=BRAG2a; IsoId=Q6DN90-2; Sequence=VSP_019758; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11226253}. Nucleus {ECO:0000269|PubMed:11226253}. Note=At steady state, may be preferentially cytosolic.


uniprotID: Q68CP4
geneSymbol: HGSNAT
reactome: R-HSA-2024096;R-HSA-2206291;R-HSA-6798695;
name: Heparan-alpha-glucosaminide N-acetyltransferase (EC 2.3.1.78) (Transmembrane protein 76)
length: 663
go: ENSG00000165102;
snps: rs73569592 rs112029032
sequence:

opentargets:
integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; heparan-alpha-glucosaminide N-acetyltransferase activity [GO:0015019]; transferase activity, transferring acyl groups [GO:0016746]; glycosaminoglycan catabolic process [GO:0006027]; lysosomal transport [GO:0007041]; neutrophil degranulation [GO:0043312]; protein complex oligomerization [GO:0051259]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Comment=Isoform 1 and isoform 2 are correctly targeted to the lysosomal compartment and are functional enzymes.; Name=1; IsoId=Q68CP4-1; Sequence=Displayed; Note=Intralysosomal proteolytic cleavage is faster and enzymatic activity higher than isoform 2.; Name=2; IsoId=Q68CP4-2; Sequence=VSP_040504; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:16960811, ECO:0000269|PubMed:17033958, ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:16960811, ECO:0000269|PubMed:17033958, ECO:0000269|PubMed:17897319}. Note=Colocalizes with the lysosomal marker LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain.


uniprotID: O14964
geneSymbol: HGS
pdb: 2D3G;3F1I;3OBQ;3ZYQ;4AVX;
name: Hepatocyte growth factor-regulated tyrosine kinase substrate (Hrs) (Protein pp110)
length: 777
go: ENSG00000185359;
drug: DB04272;
snps: rs753682847 rs34868130 rs56058441
reactome:
R-HSA-182971;R-HSA-432720;R-HSA-5689880;R-HSA-6807004;R-HSA-8856825;R-HSA-8856828;R-HSA-8875360;R-HSA-917729;

sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; ESCRT-0 complex [GO:0033565]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; multivesicular body membrane [GO:0032585]; metal ion binding [GO:0046872]; protein domain specific binding [GO:0019904]; ubiquitin-like protein ligase binding [GO:0044389]; endosomal transport [GO:0016197]; macroautophagy [GO:0016236]; membrane invagination [GO:0010324]; membrane organization [GO:0061024]; multivesicular body assembly [GO:0036258]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of JAK-STAT cascade [GO:0046426]; negative regulation of platelet-derived growth factor receptor signaling pathway [GO:0010642]; negative regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030948]; positive regulation of exosomal secretion [GO:1903543]; positive regulation of gene expression [GO:0010628]; protein localization to membrane [GO:0072657]; protein targeting to lysosome [GO:0006622]; regulation of MAP kinase activity [GO:0043405]; regulation of protein catabolic process [GO:0042176]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=HRSi1; IsoId=O14964-1; Sequence=Displayed; Name=2; Synonyms=HRSi2; IsoId=O14964-2; Sequence=VSP_036172; Note=Dubious isoform produced through aberrant splice sites.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9JJ50}. Early endosome membrane {ECO:0000269|PubMed:23166352, ECO:0000269|PubMed:24790097}; Peripheral membrane protein {ECO:0000305|PubMed:23166352, ECO:0000305|PubMed:24790097}; Cytoplasmic side {ECO:0000305|PubMed:23166352, ECO:0000305|PubMed:24790097}. Endosome, multivesicular body membrane {ECO:0000250|UniProtKB:Q9JJ50}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JJ50}. Note=Colocalizes with UBQLN1 in ubiquitin-rich cytoplasmic aggregates that are not endocytic compartments. {ECO:0000269|PubMed:16159959}.


uniprotID: Q9HCP6
geneSymbol: HHATL
length: 504
go: ENSG00000010282;
snps: rs11079
name:
Protein-cysteine N-palmitoyltransferase HHAT-like protein (Glycerol uptake/transporter homolog) (Hedgehog acyltransferase-like protein)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; negative regulation of N-terminal protein palmitoylation [GO:0060262]


uniprotID: Q5VTY9
geneSymbol: HHAT
reactome: R-HSA-5358346;R-HSA-5658034;
length: 493
go: ENSG00000054392;
snps: rs2228898 rs2294851 rs34228541 rs757163023 rs147954610
name:
Protein-cysteine N-palmitoyltransferase HHAT (EC 2.3.1.-) (Hedgehog acyltransferase) (Melanoma antigen recognized by T-cells 2) (MART-2) (Skinny hedgehog protein 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; GTP binding [GO:0005525]; O-acyltransferase activity [GO:0008374]; palmitoyltransferase activity [GO:0016409]; multicellular organism development [GO:0007275]; protein palmitoylation [GO:0018345]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q5VTY9-1; Sequence=Displayed; Name=2; IsoId=Q5VTY9-2; Sequence=VSP_016686, VSP_016689; Name=3; IsoId=Q5VTY9-3; Sequence=VSP_016689; Note=No experimental confirmation available.; Name=4; IsoId=Q5VTY9-4; Sequence=VSP_016685, VSP_016687, VSP_016688; Name=5; IsoId=Q5VTY9-5; Sequence=VSP_016686; Note=No experimental confirmation available.; Name=6; IsoId=Q5VTY9-6; Sequence=VSP_043481; Note=No experimental confirmation available.; Name=7; IsoId=Q5VTY9-7; Sequence=VSP_044968; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:25488661, ECO:0000269|PubMed:25505265}; Multi-pass membrane protein {ECO:0000269|PubMed:25488661, ECO:0000269|PubMed:25505265}.


uniprotID: Q03014
geneSymbol: HHEX
pdb: 2E1O;
name: Hematopoietically-expressed homeobox protein HHEX (Homeobox protein HEX) (Homeobox protein PRH)
length: 270
go: ENSG00000152804;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P43120}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; DNA binding, bending [GO:0008301]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; eukaryotic initiation factor 4E binding [GO:0008190]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; repressing transcription factor binding [GO:0070491]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; TBP-class protein binding [GO:0017025]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; anterior/posterior pattern specification [GO:0009952]; B cell differentiation [GO:0030183]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; DNA conformation change [GO:0071103]; mRNA export from nucleus [GO:0006406]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of transcription by competitive promoter binding [GO:0010944]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription by transcription factor localization [GO:0010621]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030948]; poly(A)+ mRNA export from nucleus [GO:0016973]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of Wnt signaling pathway [GO:0030177]; protein localization to nucleus [GO:0034504]; response to peptide hormone [GO:0043434]; response to wounding [GO:0009611]; Wnt signaling pathway [GO:0016055]


uniprotID: C9JL84
geneSymbol: HHLA1
name: HERV-H LTR-associating protein 1
length: 531
go: ENSG00000132297;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist, due to intergenic splicing between the HHLA1 and OC90 genes. This event may be induced by the LTR promoter of an endogeneous retrovirus of the HERV-H family, localized in the intron of the HHLA1 gene.; Name=1; IsoId=C9JL84-1; Sequence=Displayed; Name=2; Synonyms=PLA2L; IsoId=C9JL84-2; Sequence=VSP_039212; Note=Expressed in teratocarcinoma cell lines.; 


uniprotID: Q9UM44
geneSymbol: HHLA2
length: 414
go: ENSG00000114455;
snps: rs6779254 rs3792332 rs6779094
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
name:
HERV-H LTR-associating protein 2 (Human endogenous retrovirus-H long terminal repeat-associating protein 2)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; signaling receptor binding [GO:0005102]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of cytokine production [GO:0001819]; regulation of immune response [GO:0050776]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UM44-1; Sequence=Displayed; Name=2; IsoId=Q9UM44-2; Sequence=VSP_054729; Note=No experimental confirmation available.; 


uniprotID: Q9XRX5
geneSymbol: HHLA3
length: 114
go: ENSG00000197568;
name:
HERV-H LTR-associating protein 3 (Human endogenous retrovirus-H long terminal repeat-associating protein 3)

sequence:
MFGACYKQPLKPSGSEPPAEECRMTPRHAGCDVTEMQRILSQPTFTEHLLRAVCTKLANMYSTSTDCREHCRRGMKAKQLKAEAGRSCQRKGVPIQTPREHSWISCKKEFEANP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=4; Synonyms=type 3; IsoId=Q9XRX5-4; Sequence=Displayed; Name=2; Synonyms=type 2; IsoId=Q9XRX5-2; Sequence=VSP_041094; Name=3; Synonyms=type 1; IsoId=Q9XRX5-3; Sequence=VSP_020542; 


uniprotID: Q8IV36
geneSymbol: HID1
length: 788
go: ENSG00000167861;
name:
Protein HID1 (Down-regulated in multiple cancers 1) (HID1 domain-containing protein) (Protein hid-1 homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extrinsic component of Golgi membrane [GO:0090498]; Golgi apparatus [GO:0005794]; Golgi medial cisterna [GO:0005797]; Golgi trans cisterna [GO:0000138]; membrane [GO:0016020]; intracellular protein transport [GO:0006886]; response to brefeldin A [GO:0031001]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IV36-1; Sequence=Displayed; Name=2; IsoId=Q8IV36-2; Sequence=VSP_014473; Note=No experimental confirmation available.; Name=3; IsoId=Q8IV36-3; Sequence=VSP_014472; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21337012}. Golgi apparatus membrane {ECO:0000269|PubMed:21337012}; Lipid-anchor {ECO:0000269|PubMed:21337012}. Note=Shuttles between the cytosol and the Golgi apparatus.


uniprotID: A8MVS5
geneSymbol: HIDE1
name: Protein HIDE1
length: 230
go: ENSG00000214212;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: Q96JB3
geneSymbol: HIC2
length: 615
go: ENSG00000169635;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Hypermethylated in cancer 2 protein (Hic-2) (HIC1-related gene on chromosome 22 protein) (Hic-3) (Zinc finger and BTB domain-containing protein 30)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; metal ion binding [GO:0046872]; protein C-terminus binding [GO:0008022]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JB3-1; Sequence=Displayed; Name=2; IsoId=Q96JB3-2; Sequence=VSP_006829; 


uniprotID: P60008
geneSymbol: HILS1
name: Spermatid-specific linker histone H1-like protein
length: 231
sequence:

opentargets:
male germ cell nucleus [GO:0001673]; nucleosome [GO:0000786]; nucleus [GO:0005634]; double-stranded DNA binding [GO:0003690]; histone binding [GO:0042393]; nucleic acid binding [GO:0003676]; nucleosomal DNA binding [GO:0031492]; chromatin remodeling [GO:0006338]; chromatin silencing [GO:0006342]; chromosome condensation [GO:0030261]; germ cell development [GO:0007281]; 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]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00837}. Chromosome {ECO:0000255|PROSITE-ProRule:PRU00837}.


uniprotID: Q9NWT6
geneSymbol: HIF1AN
reactome: R-HSA-1234162;
length: 349
go: ENSG00000166135;
drug: DB01694;DB08263;DB09459;
snps: rs2295778
pdb:
1H2K;1H2L;1H2M;1H2N;1IZ3;1MZE;1MZF;1YCI;2CGN;2CGO;2ILM;2W0X;2WA3;2WA4;2XUM;2Y0I;2YC0;2YDE;3D8C;3KCX;3KCY;3OD4;3P3N;3P3P;4AI8;4B7E;4B7K;4BIO;4JAA;4NR1;4Z1V;4Z2W;5JWK;5JWL;5JWP;5OP6;5OP8;5OPC;

name:
Hypoxia-inducible factor 1-alpha inhibitor (EC 1.14.11.30) (EC 1.14.11.n4) (Factor inhibiting HIF-1) (FIH-1) (Hypoxia-inducible factor asparagine hydroxylase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; ankyrin repeat binding [GO:0071532]; carboxylic acid binding [GO:0031406]; cofactor binding [GO:0048037]; hypoxia-inducible factor-asparagine oxygenase activity [GO:0102113]; iron ion binding [GO:0005506]; NF-kappaB binding [GO:0051059]; Notch binding [GO:0005112]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors [GO:0016706]; oxygen sensor activity [GO:0019826]; peptidyl-asparagine 3-dioxygenase activity [GO:0036140]; peptidyl-histidine dioxygenase activity [GO:0036139]; protein homodimerization activity [GO:0042803]; zinc ion binding [GO:0008270]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061428]; oxidation-reduction process [GO:0055114]; peptidyl-asparagine hydroxylation [GO:0042265]; peptidyl-aspartic acid hydroxylation [GO:0042264]; peptidyl-histidine hydroxylation [GO:0036138]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of vasculogenesis [GO:2001214]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Note=Mainly cytoplasmic localization, but interaction with NOTCH1 results in nuclear localization and interaction with ABPA3 results in perinuclear localization in macrophages.


uniprotID: P49773
geneSymbol: HINT1
length: 126
go: ENSG00000169567;
drug: DB02162;DB03349;DB00131;DB02183;DB01972;
snps: rs149782619 rs397514491 rs397514489 rs397514490 rs397514493 rs373849532
pdb:
1AV5;1KPA;1KPB;1KPC;1KPE;1KPF;3TW2;4EQE;4EQG;4EQH;4ZKL;4ZKV;5ED3;5ED6;5EMT;5I2E;5I2F;5IPB;5IPC;5IPD;5IPE;5KLY;5KLZ;5KM0;5KM1;5KM2;5KM3;5KM4;5KM6;5KMA;5KMB;5KMC;5O8I;5WA8;5WA9;5WAA;6B42;6G9Z;

name:
Histidine triad nucleotide-binding protein 1 (EC 3.-.-.-) (Adenosine 5'-monophosphoramidase) (Protein kinase C inhibitor 1) (Protein kinase C-interacting protein 1) (PKCI-1)

sequence:
MADEIAKAQVARPGGDTIFGKIIRKEIPAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHISQISVAEDDDESLLGHLMIVGKKCAADLGLNKGYRMVVNEGSDGGQSVYHVHLHVLGGRQMHWPPG

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; histone deacetylase complex [GO:0000118]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; hydrolase activity [GO:0016787]; nucleotide binding [GO:0000166]; protein kinase C binding [GO:0005080]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; positive regulation of calcium-mediated signaling [GO:0050850]; purine ribonucleotide catabolic process [GO:0009154]; regulation of transcription, DNA-templated [GO:0006355]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Interaction with CDK7 leads to a more nuclear localization.


uniprotID: Q9BW72
geneSymbol: HIGD2A
name: HIG1 domain family member 2A, mitochondrial (RCF1 homolog B) (RCF1b)
length: 106
sequence:
MATPGPVIPEVPFEPSKPPVIEGLSPTVYRNPESFKEKFVRKTRENPVVPIGCLATAAALTYGLYSFHRGNSQRSQLMMRTRIAAQGFTVAAILLGLAVTAMKSRP

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; respiratory chain [GO:0070469]; negative regulation of apoptotic process [GO:0043066]; oxidation-reduction process [GO:0055114]

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


uniprotID: Q9H422
geneSymbol: HIPK3
length: 1215
go: ENSG00000110422;
snps: rs34193811 rs34698015 rs35689361 rs266472 rs11032229 rs55807239
name:
Homeodomain-interacting protein kinase 3 (EC 2.7.11.1) (Androgen receptor-interacting nuclear protein kinase) (ANPK) (Fas-interacting serine/threonine-protein kinase) (FIST) (Homolog of protein kinase YAK1)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; PML body [GO:0016605]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; apoptotic process [GO:0006915]; mRNA transcription [GO:0009299]; negative regulation of apoptotic process [GO:0043066]; negative regulation of JUN kinase activity [GO:0043508]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=HIPK3; IsoId=Q9H422-1; Sequence=Displayed; Name=2; Synonyms=FIST; IsoId=Q9H422-2; Sequence=VSP_013140; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11034606}. Nucleus {ECO:0000269|PubMed:11034606}.


uniprotID: Q8NE63
geneSymbol: HIPK4
name: Homeodomain-interacting protein kinase 4 (EC 2.7.11.1)
length: 616
go: ENSG00000160396;
snps: rs34434715 rs55964225 rs11670988 rs55760165 rs56365273 rs56094851 rs56117722 rs55801979
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; histone phosphorylation [GO:0016572]; peptidyl-serine phosphorylation [GO:0018105]; protein autophosphorylation [GO:0046777]; regulation of signal transduction by p53 class mediator [GO:1901796]


uniprotID: P54198
geneSymbol: HIRA
reactome: R-HSA-2559584;
pdb: 2I32;5YJE;
name: Protein HIRA (TUP1-like enhancer of split protein 1)
length: 1017
go: ENSG00000100084;
sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; extracellular exosome [GO:0070062]; HIR complex [GO:0000417]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; protein-containing complex [GO:0032991]; DNA-binding transcription factor activity [GO:0003700]; transcription corepressor activity [GO:0003714]; anatomical structure morphogenesis [GO:0009653]; chromatin silencing at centromere [GO:0030702]; DNA replication-independent nucleosome assembly [GO:0006336]; gastrulation [GO:0007369]; mitotic sister chromatid segregation [GO:0000070]; muscle cell differentiation [GO:0042692]; osteoblast differentiation [GO:0001649]; regulation of chromatin silencing [GO:0031935]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P54198-1; Sequence=Displayed; Name=Short; IsoId=P54198-2; Sequence=VSP_006772; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus, PML body. Note=Primarily, though not exclusively, localized to the nucleus. Localizes to PML bodies immediately prior to onset of senescence.


uniprotID: P51617
geneSymbol: IRAK1
pdb: 6BFN;
name: Interleukin-1 receptor-associated kinase 1 (IRAK-1) (EC 2.7.11.1)
length: 712
go: ENSG00000184216;
snps: rs11465830 rs1059702 rs10127175 rs56340948 rs1059703 rs34112487 rs35638718 rs56082801
reactome:
R-HSA-1257604;R-HSA-166058;R-HSA-168638;R-HSA-209543;R-HSA-209560;R-HSA-445989;R-HSA-450302;R-HSA-450321;R-HSA-6811558;R-HSA-9020702;R-HSA-937039;R-HSA-975110;R-HSA-975138;R-HSA-975144;R-HSA-975155;R-HSA-975871;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; interleukin-1 receptor complex [GO:0045323]; lipid droplet [GO:0005811]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; heat shock protein binding [GO:0031072]; kinase activity [GO:0016301]; NF-kappaB-inducing kinase activity [GO:0004704]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; activation of MAPK activity [GO:0000187]; activation of NF-kappaB-inducing kinase activity [GO:0007250]; aging [GO:0007568]; cellular response to heat [GO:0034605]; cellular response to hypoxia [GO:0071456]; cytokine-mediated signaling pathway [GO:0019221]; interleukin-1-mediated signaling pathway [GO:0070498]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of apoptotic process [GO:0043066]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of type I interferon production [GO:0032481]; protein autophosphorylation [GO:0046777]; protein complex oligomerization [GO:0051259]; protein phosphorylation [GO:0006468]; regulation of cytokine-mediated signaling pathway [GO:0001959]; response to interleukin-1 [GO:0070555]; response to lipopolysaccharide [GO:0032496]; signal transduction [GO:0007165]; toll-like receptor 2 signaling pathway [GO:0034134]; toll-like receptor 4 signaling pathway [GO:0034142]; toll-like receptor 9 signaling pathway [GO:0034162]; toll-like receptor signaling pathway [GO:0002224]; transmembrane receptor protein serine/threonine kinase signaling pathway [GO:0007178]; type I interferon signaling pathway [GO:0060337]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=a; IsoId=P51617-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=P51617-2; Sequence=VSP_011851; Note=Inactive.; Name=3; IsoId=P51617-3; Sequence=VSP_011849, VSP_011850, VSP_011851; Note=No experimental confirmation available.; Name=4; IsoId=P51617-4; Sequence=VSP_041950; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16690127}. Nucleus {ECO:0000269|PubMed:16690127}. Lipid droplet {ECO:0000250}. Note=Translocates to the nucleus when sumoylated. RSAD2/viperin recruits it to the lipid droplet (By similarity). {ECO:0000250}.


uniprotID: P14316
geneSymbol: IRF2
reactome: R-HSA-877300;R-HSA-909733;R-HSA-983231;
name: Interferon regulatory factor 2 (IRF-2)
length: 349
go: ENSG00000168310;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; blood coagulation [GO:0007596]; cell proliferation [GO:0008283]; defense response to virus [GO:0051607]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14316-1; Sequence=Displayed; Name=2; Synonyms=IRF-2s, IRF-2[S]; IsoId=P14316-2; Sequence=VSP_043965; Note=Unable to bind to IRF2BP1 and IRF2BP2 corepressors and cannot mediate repression.; 


uniprotID: Q92985
geneSymbol: IRF7
pdb: 2O61;
name: Interferon regulatory factor 7 (IRF-7)
length: 503
go: ENSG00000185507;
snps: rs1061502 rs41313489 rs786205223 rs1131665
reactome:
R-HSA-3134963;R-HSA-877300;R-HSA-9013973;R-HSA-909733;R-HSA-918233;R-HSA-933541;R-HSA-936964;R-HSA-975110;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; cellular response to DNA damage stimulus [GO:0006974]; defense response to virus [GO:0051607]; establishment of viral latency [GO:0019043]; immunoglobulin mediated immune response [GO:0016064]; innate immune response [GO:0045087]; interferon-alpha production [GO:0032607]; interferon-beta production [GO:0032608]; interferon-gamma-mediated signaling pathway [GO:0060333]; MDA-5 signaling pathway [GO:0039530]; negative regulation of macrophage apoptotic process [GO:2000110]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of interferon-alpha production [GO:0032727]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of type I interferon production [GO:0032481]; positive regulation of type I interferon-mediated signaling pathway [GO:0060340]; regulation of adaptive immune response [GO:0002819]; regulation of immune response [GO:0050776]; regulation of monocyte differentiation [GO:0045655]; regulation of MyD88-dependent toll-like receptor signaling pathway [GO:0034124]; regulation of MyD88-independent toll-like receptor signaling pathway [GO:0034127]; regulation of type I interferon production [GO:0032479]; response to virus [GO:0009615]; transcription by RNA polymerase II [GO:0006366]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]; type I interferon biosynthetic process [GO:0045351]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; IsoId=Q92985-1; Sequence=Displayed; Name=B; Synonyms=Beta; IsoId=Q92985-2; Sequence=VSP_002760; Name=C; Synonyms=Gamma; IsoId=Q92985-3; Sequence=VSP_002758, VSP_002759; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=D; Synonyms=H; IsoId=Q92985-4; Sequence=VSP_002757; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The phosphorylated and active form accumulates selectively in the nucleus.


uniprotID: A6NK06
geneSymbol: ACOD1
length: 481
go: ENSG00000102794;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
name:
Cis-aconitate decarboxylase (CAD) (EC 4.1.1.6) (Aconitate decarboxylase) (Aconitate decarboxylase 1) (Cis-aconitic acid decarboxylase) (Immune-responsive gene 1 protein)

sequence:

opentargets:
mitochondrion [GO:0005739]; 2-methylcitrate dehydratase activity [GO:0047547]; aconitate decarboxylase activity [GO:0047613]; cellular response to interferon-beta [GO:0035458]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to molecule of bacterial origin [GO:0071219]; cellular response to progesterone stimulus [GO:0071393]; cellular response to tumor necrosis factor [GO:0071356]; defense response [GO:0006952]; embryo implantation [GO:0007566]; inflammatory response [GO:0006954]; negative regulation of inflammatory response [GO:0050728]; negative regulation of innate immune response [GO:0045824]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of toll-like receptor 2 signaling pathway [GO:0034136]; negative regulation of toll-like receptor 4 signaling pathway [GO:0034144]; negative regulation of type I interferon production [GO:0032480]; positive regulation of antimicrobial humoral response [GO:0002760]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; propionate metabolic process, methylcitrate cycle [GO:0019679]; tolerance induction to lipopolysaccharide [GO:0072573]


uniprotID: A1A4Y4
geneSymbol: IRGM
length: 181
go: ENSG00000237693;
snps: rs180802994 rs72553867
name:
Immunity-related GTPase family M protein (EC 3.6.5.-) (Immunity-related GTPase family M protein 1) (Interferon-inducible protein 1) (LPS-stimulated RAW 264.7 macrophage protein 47 homolog) (LRG-47)

sequence:
MEAMNVEKASADGNLPEVISNIKETLKIVSRTPVNITMAGDSGNGMSTFISALRNTGHEGKASPPTELVKATQRCASYFSSHFSNVVLWDLPGTGSATTTLENYLMEMQFNRYDFIMVASAQFSMNHVMLAKTAEDMGKKFYIVWTKLDMDLSTGALPEVQLLQIRENVLENLQKERVCEY

opentargets:
autophagosome membrane [GO:0000421]; cell projection [GO:0042995]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; mitochondrion [GO:0005739]; phagocytic cup [GO:0001891]; phagocytic vesicle membrane [GO:0030670]; BH3 domain binding [GO:0051434]; CARD domain binding [GO:0050700]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activator activity [GO:0043539]; autophagosome assembly [GO:0000045]; autophagy of host cells involved in interaction with symbiont [GO:0075044]; CAMKK-AMPK signaling cascade [GO:0061762]; cellular response to interferon-beta [GO:0035458]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to virus [GO:0098586]; defense response [GO:0006952]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; nucleotide-binding oligomerization domain containing 2 signaling pathway [GO:0070431]; positive regulation of autophagosome maturation [GO:1901098]; positive regulation of autophagy [GO:0010508]; positive regulation of interferon-gamma-mediated signaling pathway [GO:0060335]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; protein destabilization [GO:0031648]; protein lipidation involved in autophagosome assembly [GO:0061739]; protein stabilization [GO:0050821]; regulation of protein complex assembly [GO:0043254]; regulation of protein complex stability [GO:0061635]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}. Cell membrane {ECO:0000250}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000250}. Cell projection, phagocytic cup {ECO:0000250}. Note=Behaves like an integral membrane protein. Recruited to the plasma membrane around forming phagocytic cups, it remains associated with maturing autophagosomes. Preferentially associated with cis- and medial-Golgi. {ECO:0000250}.


uniprotID: O14654
geneSymbol: IRS4
reactome: R-HSA-2428928;
length: 1257
go: ENSG00000133124;
snps: rs1801162 rs34287560 rs1801164 rs28546943
name:
Insulin receptor substrate 4 (IRS-4) (160 kDa phosphotyrosine protein) (py160) (Phosphoprotein of 160 kDa) (pp160)

sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; insulin receptor binding [GO:0005158]; phosphatidylinositol 3-kinase binding [GO:0043548]; SH3/SH2 adaptor activity [GO:0005070]; insulin receptor signaling pathway [GO:0008286]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9553137}; Peripheral membrane protein {ECO:0000269|PubMed:9553137}; Cytoplasmic side {ECO:0000269|PubMed:9553137}.


uniprotID: P78414
geneSymbol: IRX1
name: Iroquois-class homeodomain protein IRX-1 (Homeodomain protein IRXA1) (Iroquois homeobox protein 1)
length: 480
go: ENSG00000170549;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; sequence-specific DNA binding [GO:0043565]; negative regulation of transcription by RNA polymerase II [GO:0000122]; proximal/distal pattern formation involved in metanephric nephron development [GO:0072272]; specification of loop of Henle identity [GO:0072086]


uniprotID: P15516
geneSymbol: HTN3
reactome: R-HSA-6803157;
sequence: MKFFVFALILALMLSMTGADSHAKRHHGYKRKFHEKHHSHRGYRSNYLYDN
length: 51
go: ENSG00000205649;
snps: rs1136511 rs17147990
name:
Histatin-3 (Basic histidine-rich protein) (Hst) (Histidine-rich protein 3) (PB) [Cleaved into: Histatin-3; His3-(20-44)-peptide (His3 20/44) (His3-(1-25)-peptide) (His3 1/25) (Histatin-3 1/25) (Histatin-6); His3-(20-43)-peptide (His3 20/43) (His3-(1-24)-peptide) (His3 1/24) (Histatin-3 1/24) (Histatin-5); His3-(20-32)-peptide (His3 20/32) (His3-(1-13)-peptide) (His3 1/13) (Histatin-3 1/13); His3-(20-31)-peptide (His3 20/31) (His3-(1-12)-peptide) (His3 1/12) (Histatin-3 1/12); His3-(20-30)-peptide (His3 20/30) (His3-(1-11)-peptide) (His3 1/11) (Histatin-3 1/11); His3-(24-32)-peptide (His3 24/32) (His3-(5-13)-peptide) (His3 5/13) (Histatin-3 5/13); His3-(24-31)-peptide (His3 24/31) (His3-(5-12)-peptide) (His3 5/12) (Histatin-11) (Histatin-3 5/12); His3-(24-30)-peptide (His3 24/30) (His3-(5-11)-peptide) (His3 5/11) (Histatin-12) (Histatin-3 5/11); His3-(25-32)-peptide (His3 25/32) (His3-(6-13)-peptide) (His3 6/13) (Histatin-3 6/13); His3-(25-30)-peptide (His3 25/30) (His3-(6-11)-peptide) (His3 6/11) (Histatin-3 6/11); His3-(26-32)-peptide (His3 26/32) (His3-(7-13)-peptide) (His3 7/13) (Histatin-3 7/13); His3-(26-31)-peptide (His3 26/31) (His3-(7-12)-peptide) (His3 7/12) (Histatin-3 7/12); His3-(26-30)-peptide (His3 26/30) (His3-(7-11)-peptide) (His3 7/11) (Histatin-3 7/11); His3-(31-51)-peptide (His3 31/51) (His3-(12-32)-peptide) (His3 12/32) (Histatin-3 12/32) (Histatin-4); His3-(31-44)-peptide (His3 31/44) (His3-(12-25)-peptide) (His3 12/25) (Histatin-3 12/25) (Histatin-9); His3-(31-43)-peptide (His3 31/43) (His3-(12-24)-peptide) (His3 12/24) (Histatin-3 12/24) (Histatin-7); His3-(32-44)-peptide (His3 32/44) (His3-(13-25)-peptide) (His3 13/25) (Histatin-10) (Histatin-3 13/25); His3-(32-43)-peptide (His3 32-43) (His3-(13-24)-peptide) (His3 13/24) (Histatin-3 13/24) (Histatin-8); His3-(33-44)-peptide (His3 33/44) (His3-(14-25)-peptide) (His3 14/25) (Histatin-3 14/25); His3-(33-43)-peptide (His3 33/43) (His3-(14-24)-peptide) (His3 14/24) (Histatin-3 14/24); His3-(34-44)-peptide (His3 34/44) (His3-(15-25)-peptide) (His3 15/25) (Histatin-3 15/25); His3-(34-43)-peptide (His3 34/43) (His3-(15-24)-peptide) (His3 15/24) (Histatin-3 15/24); His3-(45-51)-peptide (His3 45/51) (His3-(26-32)-peptide) (His3 26/32) (Histatin-3 26/32); His3-(47-51)-peptide (His3 47/51) (His3-(28-32)-peptide) (His3 28/32) (Histatin-3 28/32); His3-(48-51)-peptide (His3 48/51) (His3-(29-32)-peptide) (His3 29/32) (Histatin-3 29/32)]

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; metal ion binding [GO:0046872]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; biomineral tissue development [GO:0031214]; defense response to bacterium [GO:0042742]; defense response to fungus [GO:0050832]; killing of cells of other organism [GO:0031640]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14966203}. Note=Secreted by serous acinar and demilune cells.


uniprotID: P78413
geneSymbol: IRX4
name: Iroquois-class homeodomain protein IRX-4 (Homeodomain protein IRXA3) (Iroquois homeobox protein 4)
length: 519
go: ENSG00000113430;
snps: rs2232376
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; establishment of animal organ orientation [GO:0048561]; heart development [GO:0007507]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78413-1; Sequence=Displayed; Name=2; IsoId=P78413-2; Sequence=VSP_054304; 


uniprotID: P52333
geneSymbol: JAK3
length: 1124
go: ENSG00000105639;
drug: DB08895;
reactome:
R-HSA-1266695;R-HSA-5673001;R-HSA-6785807;R-HSA-8854691;R-HSA-8983432;R-HSA-8985947;R-HSA-9020558;R-HSA-9020958;R-HSA-912526;

pdb:
1YVJ;3LXK;3LXL;3PJC;3ZC6;3ZEP;4HVD;4HVG;4HVH;4HVI;4I6Q;4QPS;4QT1;4RIO;4V0G;4Z16;5LWM;5LWN;5TOZ;5TTS;5TTU;5TTV;5VO6;5W86;5WFJ;6AAK;6GL9;6GLA;6GLB;

name:
Tyrosine-protein kinase JAK3 (EC 2.7.10.2) (Janus kinase 3) (JAK-3) (Leukocyte janus kinase) (L-JAK)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endosome [GO:0005768]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein phosphatase binding [GO:0019903]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; adaptive immune response [GO:0002250]; B cell differentiation [GO:0030183]; cytokine-mediated signaling pathway [GO:0019221]; enzyme linked receptor protein signaling pathway [GO:0007167]; erythrocyte differentiation [GO:0030218]; innate immune response [GO:0045087]; interleukin-15-mediated signaling pathway [GO:0035723]; interleukin-2-mediated signaling pathway [GO:0038110]; interleukin-21-mediated signaling pathway [GO:0038114]; interleukin-4-mediated signaling pathway [GO:0035771]; interleukin-7-mediated signaling pathway [GO:0038111]; interleukin-9-mediated signaling pathway [GO:0038113]; intracellular signal transduction [GO:0035556]; JAK-STAT cascade involved in growth hormone signaling pathway [GO:0060397]; MAPK cascade [GO:0000165]; negative regulation of dendritic cell cytokine production [GO:0002731]; negative regulation of FasL biosynthetic process [GO:0045221]; negative regulation of interleukin-10 production [GO:0032693]; negative regulation of interleukin-12 production [GO:0032695]; negative regulation of T cell activation [GO:0050868]; negative regulation of T-helper 1 cell differentiation [GO:0045626]; negative regulation of thymocyte apoptotic process [GO:0070244]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of T cell proliferation [GO:0042102]; protein phosphorylation [GO:0006468]; regulation of JAK-STAT cascade [GO:0046425]; regulation of T cell apoptotic process [GO:0070232]; response to interleukin-15 [GO:0070672]; response to interleukin-2 [GO:0070669]; response to interleukin-4 [GO:0070670]; response to interleukin-9 [GO:0071104]; T cell homeostasis [GO:0043029]; tyrosine phosphorylation of STAT protein [GO:0007260]

snps:
rs56061056 rs56384680 rs137852624 rs3212723 rs55778349 rs147181709 rs55666418 rs193922361 rs886039394 rs35785705 rs3213409 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; Synonyms=JAK3S, Spleen-JAK3; IsoId=P52333-1; Sequence=Displayed; Name=1; Synonyms=JAK3B, Breast-JAK3; IsoId=P52333-2; Sequence=VSP_004989; Note=May be inactive as it lacks some part of the kinase domain.; Name=3; IsoId=P52333-4; Sequence=VSP_054165, VSP_054166; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasm {ECO:0000250}.


uniprotID: P05114
geneSymbol: HMGN1
reactome: R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;
length: 100
go: ENSG00000205581;
name:
Non-histone chromosomal protein HMG-14 (High mobility group nucleosome-binding domain-containing protein 1)

sequence:
MPKRKVSSAEGAAKEEPKRRSARLSAKPPAKVEAKPKKAAAKDKSSDKKVQTKGKRGAKGKQAEVANQETKEDLPAENGETKTEESPASDEAGEKEAKSD

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; nucleosomal DNA binding [GO:0031492]; chromatin organization [GO:0006325]; positive regulation of DNA-templated transcription, elongation [GO:0032786]; positive regulation of NAD+ ADP-ribosyltransferase activity [GO:1901666]; post-embryonic camera-type eye morphogenesis [GO:0048597]; pyrimidine dimer repair by nucleotide-excision repair [GO:0000720]; regulation of development, heterochronic [GO:0040034]; regulation of epithelial cell proliferation [GO:0050678]; regulation of transcription by RNA polymerase II [GO:0006357]; response to UV-B [GO:0010224]; response to UV-C [GO:0010225]; transcription-coupled nucleotide-excision repair [GO:0006283]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Cytoplasmic enrichment upon phosphorylation. The RNA edited version localizes to the nucleus.


uniprotID: P56524
geneSymbol: HDAC4
reactome: R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;R-HSA-4090294;R-HSA-4551638;R-HSA-8941284;R-HSA-8951936;
pdb: 2H8N;2O94;2VQJ;2VQM;2VQO;2VQQ;2VQV;2VQW;3UXG;3UZD;3V31;4CBT;4CBY;5A2S;
name: Histone deacetylase 4 (HD4) (EC 3.5.1.98)
length: 1084
go: ENSG00000068024;
drug: DB05015;DB06603;DB06176;
snps: rs151043798
sequence:

opentargets:
A band [GO:0031672]; actomyosin [GO:0042641]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; histone deacetylase complex [GO:0000118]; neuromuscular junction [GO:0031594]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; Z disc [GO:0030018]; activating transcription factor binding [GO:0033613]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; identical protein binding [GO:0042802]; NAD-dependent histone deacetylase activity (H3-K14 specific) [GO:0032041]; potassium ion binding [GO:0030955]; promoter-specific chromatin binding [GO:1990841]; protein deacetylase activity [GO:0033558]; protein kinase binding [GO:0019901]; repressing transcription factor binding [GO:0070491]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription factor binding [GO:0001085]; SUMO transferase activity [GO:0019789]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; B cell activation [GO:0042113]; B cell differentiation [GO:0030183]; cardiac muscle hypertrophy in response to stress [GO:0014898]; cellular response to mechanical stimulus [GO:0071260]; cellular response to parathyroid hormone stimulus [GO:0071374]; cellular response to tumor necrosis factor [GO:0071356]; chromatin remodeling [GO:0006338]; histone deacetylation [GO:0016575]; histone H3 deacetylation [GO:0070932]; histone H4 deacetylation [GO:0070933]; inflammatory response [GO:0006954]; negative regulation of cell proliferation [GO:0008285]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of glycolytic process [GO:0045820]; negative regulation of myotube differentiation [GO:0010832]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; osteoblast development [GO:0002076]; peptidyl-lysine deacetylation [GO:0034983]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of protein sumoylation [GO:0033235]; positive regulation of reactive oxygen species biosynthetic process [GO:1903428]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein deacetylation [GO:0006476]; regulation of cardiac muscle contraction by calcium ion signaling [GO:0010882]; regulation of gene expression, epigenetic [GO:0040029]; regulation of protein binding [GO:0043393]; regulation of skeletal muscle fiber development [GO:0048742]; response to denervation involved in regulation of muscle adaptation [GO:0014894]; response to drug [GO:0042493]; response to interleukin-1 [GO:0070555]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P56524-1; Sequence=Displayed; Name=2; IsoId=P56524-2; Sequence=VSP_057290, VSP_057291; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. Upon muscle cells differentiation, it accumulates in the nuclei of myotubes, suggesting a positive role of nuclear HDAC4 in muscle differentiation. The export to cytoplasm depends on the interaction with a 14-3-3 chaperone protein and is due to its phosphorylation at Ser-246, Ser-467 and Ser-632 by CaMK4 and SIK1. The nuclear localization probably depends on sumoylation.


uniprotID: Q8IV16
geneSymbol: GPIHBP1
reactome: R-HSA-163125;R-HSA-8963889;R-HSA-8963901;R-HSA-975634;
length: 184
name:
Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPI-HBP1) (GPI-anchored HDL-binding protein 1) (High density lipoprotein-binding protein 1)

sequence:
MKALGAVLLALLLCGRPGRGQTQQEEEEEDEDHGPDDYDEEDEDEVEEEETNRLPGGRSRVLLRCYTCKSLPRDERCNLTQNCSHGQTCTTLIAHGNTESGLLTTHSTWCTDSCQPITKTVEGTQVTMTCCQSSLCNVPPWQSSRVQDPTGKGAGGPRGSSETVGAALLLNLLAGLGAMGARRP

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; anchored component of membrane [GO:0031225]; apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; high-density lipoprotein particle [GO:0034364]; intracellular [GO:0005622]; membrane [GO:0016020]; plasma membrane [GO:0005886]; chylomicron binding [GO:0035478]; lipase binding [GO:0035473]; lipid binding [GO:0008289]; lipoprotein particle binding [GO:0071813]; protein transmembrane transporter activity [GO:0008320]; cholesterol homeostasis [GO:0042632]; intracellular protein transport [GO:0006886]; positive regulation of chylomicron remnant clearance [GO:0090321]; positive regulation of lipoprotein lipase activity [GO:0051006]; protein import [GO:0017038]; protein localization to cell surface [GO:0034394]; protein stabilization [GO:0050821]; regulation of lipoprotein lipase activity [GO:0051004]; response to heparin [GO:0071503]; transcytosis [GO:0045056]; triglyceride homeostasis [GO:0070328]

snps:
rs11538389 rs587777636 rs587777638 rs587777638 rs587777639 rs587777640 rs587777637 rs78367243 rs145844329 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:Q9D1N2}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q9D1N2}. Basolateral cell membrane {ECO:0000250|UniProtKB:Q9D1N2}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q9D1N2}. Cell membrane {ECO:0000250|UniProtKB:Q9D1N2}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9D1N2}; Extracellular side {ECO:0000250|UniProtKB:Q9D1N2}.


uniprotID: Q9UBI9
geneSymbol: HECA
name: Headcase protein homolog (hHDC)
length: 543
go: ENSG00000112406;
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleus [GO:0005634]; negative regulation of mitotic cell cycle [GO:0045930]; respiratory tube development [GO:0030323]


uniprotID: Q9UBN7
geneSymbol: HDAC6
reactome: R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;R-HSA-3371511;R-HSA-5617833;R-HSA-8878166;R-HSA-8940973;
pdb: 3C5K;3GV4;3PHD;5B8D;5EDU;5KH3;5KH7;5KH9;5WBN;5WPB;6CE6;6CE8;6CEA;6CEC;6CED;6CEE;6CEF;
name: Histone deacetylase 6 (HD6) (EC 3.5.1.98)
length: 1215
go: ENSG00000094631;
drug: DB05015;DB06603;DB06176;DB05223;DB02546;
snps: rs1127346 rs151130423
sequence:

opentargets:
aggresome [GO:0016235]; axon [GO:0030424]; caveola [GO:0005901]; cell leading edge [GO:0031252]; cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; dendrite [GO:0030425]; histone deacetylase complex [GO:0000118]; inclusion body [GO:0016234]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; multivesicular body [GO:0005771]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; actin binding [GO:0003779]; alpha-tubulin binding [GO:0043014]; beta-catenin binding [GO:0008013]; beta-tubulin binding [GO:0048487]; dynein complex binding [GO:0070840]; enzyme binding [GO:0019899]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; Hsp90 protein binding [GO:0051879]; microtubule binding [GO:0008017]; misfolded protein binding [GO:0051787]; NAD-dependent histone deacetylase activity (H3-K14 specific) [GO:0032041]; polyubiquitin modification-dependent protein binding [GO:0031593]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; tau protein binding [GO:0048156]; tubulin deacetylase activity [GO:0042903]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270]; aggresome assembly [GO:0070842]; autophagy [GO:0006914]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to misfolded protein [GO:0071218]; cellular response to topologically incorrect protein [GO:0035967]; cilium assembly [GO:0060271]; collateral sprouting [GO:0048668]; dendritic spine morphogenesis [GO:0060997]; histone deacetylation [GO:0016575]; Hsp90 deacetylation [GO:0070846]; intracellular protein transport [GO:0006886]; lysosome localization [GO:0032418]; mitochondrion localization [GO:0051646]; negative regulation of hydrogen peroxide metabolic process [GO:0010727]; negative regulation of microtubule depolymerization [GO:0007026]; negative regulation of oxidoreductase activity [GO:0051354]; negative regulation of protein complex disassembly [GO:0043242]; negative regulation of proteolysis [GO:0045861]; negative regulation of transcription, DNA-templated [GO:0045892]; parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization [GO:0061734]; peptidyl-lysine deacetylation [GO:0034983]; polyubiquitinated misfolded protein transport [GO:0070845]; positive regulation of chaperone-mediated protein complex assembly [GO:0090035]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of hydrogen peroxide-mediated programmed cell death [GO:1901300]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein oligomerization [GO:0032461]; positive regulation of receptor biosynthetic process [GO:0010870]; positive regulation of signal transduction [GO:0009967]; protein deacetylation [GO:0006476]; protein polyubiquitination [GO:0000209]; protein quality control for misfolded or incompletely synthesized proteins [GO:0006515]; protein-containing complex disassembly [GO:0032984]; regulation of androgen receptor signaling pathway [GO:0060765]; regulation of autophagy [GO:0010506]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of establishment of protein localization [GO:0070201]; regulation of fat cell differentiation [GO:0045598]; regulation of gene expression, epigenetic [GO:0040029]; regulation of macroautophagy [GO:0016241]; regulation of microtubule-based movement [GO:0060632]; regulation of protein stability [GO:0031647]; regulation of signaling receptor activity [GO:0010469]; response to growth factor [GO:0070848]; response to misfolded protein [GO:0051788]; response to organic substance [GO:0010033]; response to toxic substance [GO:0009636]; tubulin deacetylation [GO:0090042]; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway [GO:0043162]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=HDAC6p131; IsoId=Q9UBN7-1; Sequence=Displayed; Name=2; Synonyms=HDAC6p114; IsoId=Q9UBN7-2; Sequence=VSP_044576; Note=Required for TGF-beta1-activated gene expression associated with epithelial-mesenchymal transition (EMT) in A549 cells.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Perikaryon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell projection, axon {ECO:0000250}. Note=It is mainly cytoplasmic, where it is associated with microtubules.


uniprotID: Q5TGJ6
geneSymbol: HDGFL1
name: Hepatoma-derived growth factor-like protein 1 (PWWP domain-containing protein 1)
length: 251
go: ENSG00000112273;
snps: rs2076506
sequence:


uniprotID: Q96PE3
geneSymbol: INPP4A
reactome: R-HSA-1660499;R-HSA-1660516;R-HSA-1855183;
length: 977
go: ENSG00000040933;
snps: rs2278206
name:
Type I inositol 3,4-bisphosphate 4-phosphatase (EC 3.1.3.66) (Inositol polyphosphate 4-phosphatase type I)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; inositol-1,3,4-trisphosphate 4-phosphatase activity [GO:0017161]; inositol-3,4-bisphosphate 4-phosphatase activity [GO:0052828]; phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity [GO:0016316]; phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity [GO:0034597]; inositol phosphate metabolic process [GO:0043647]; phosphatidylinositol biosynthetic process [GO:0006661]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Alpha-3; IsoId=Q96PE3-1; Sequence=Displayed; Name=2; Synonyms=Alpha-1; IsoId=Q96PE3-2; Sequence=VSP_015241; Name=3; IsoId=Q96PE3-3; Sequence=VSP_015240; Name=4; Synonyms=Beta; IsoId=Q96PE3-4; Sequence=VSP_015241, VSP_015242; Note=Inactive.; 


uniprotID: Q7Z353
geneSymbol: HDX
pdb: 2DA4;
name: Highly divergent homeobox
length: 690
go: ENSG00000165259;
snps: rs35653454 rs35161124
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z353-1; Sequence=Displayed; Name=2; IsoId=Q7Z353-2; Sequence=VSP_027708; 


uniprotID: Q9H583
geneSymbol: HEATR1
reactome: R-HSA-6790901;R-HSA-6791226;
length: 2144
go: ENSG00000119285;
name:
HEAT repeat-containing protein 1 (Protein BAP28) (U3 small nucleolar RNA-associated protein 10 homolog) [Cleaved into: HEAT repeat-containing protein 1, N-terminally processed]

sequence:

opentargets:
90S preribosome [GO:0030686]; fibrillar center [GO:0001650]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; small-subunit processome [GO:0032040]; t-UTP complex [GO:0034455]; RNA binding [GO:0003723]; snoRNA binding [GO:0030515]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; positive regulation of rRNA processing [GO:2000234]; positive regulation of transcription by RNA polymerase I [GO:0045943]; rRNA processing [GO:0006364]

snps:
rs2794751 rs2794763 rs16833953 rs653737 rs6661946 rs16833884 rs2275689 rs1885533 rs1126627 rs2275687 rs6664730 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:17699751}.


uniprotID: A8MVW5
geneSymbol: HEPACAM2
name: HEPACAM family member 2 (Mitotic kinetics regulator)
length: 462
go: ENSG00000188175;
snps: rs10281525 rs555587403
sequence:

opentargets:
centrosome [GO:0005813]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; midbody [GO:0030496]; spindle [GO:0005819]; cell division [GO:0051301]; centrosome cycle [GO:0007098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A8MVW5-1; Sequence=Displayed; Name=2; IsoId=A8MVW5-2; Sequence=VSP_033355; Name=3; IsoId=A8MVW5-3; Sequence=VSP_044322; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:19358830, ECO:0000269|PubMed:22864114}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19358830, ECO:0000269|PubMed:22864114}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:19358830, ECO:0000269|PubMed:22864114}. Midbody {ECO:0000269|PubMed:22864114}. Note=In interphase, localizes to the Golgi apparatus. Localizes to centrosomes and spindles during prophase, prometaphase, and metaphase of mitosis, and to midbodies at telophase. Translocation to mitotic centrosomes is the result of poly-ADP-ribosylation (PARsylation). {ECO:0000269|PubMed:19358830, ECO:0000269|PubMed:22864114}.


uniprotID: Q8NG08
geneSymbol: HELB
name: DNA helicase B (hDHB) (EC 3.6.4.12)
length: 1087
go: ENSG00000127311;
snps: rs35605829 rs4430553 rs35138454 rs58589183 rs1185244 rs1168312
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; ATP binding [GO:0005524]; ATP-dependent 5'-3' DNA helicase activity [GO:0043141]; protein-containing complex binding [GO:0044877]; RNA binding [GO:0003723]; single-stranded DNA-dependent ATP-dependent DNA helicase activity [GO:0017116]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA replication, synthesis of RNA primer [GO:0006269]; negative regulation of double-strand break repair via homologous recombination [GO:2000042]; regulation of DNA double-strand break processing [GO:1903775]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NG08-1; Sequence=Displayed; Name=2; IsoId=Q8NG08-2; Sequence=VSP_034086, VSP_034087; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15146062}. Cytoplasm {ECO:0000269|PubMed:15146062}. Chromosome {ECO:0000269|PubMed:26774285}. Note=Predominantly nuclear (PubMed:15146062). Phosphorylation at Ser-967 by CDK2 during the G1/S transition results in its nuclear export into the cytoplasm as cells approach and progress through S phase (PubMed:15146062). Following DNA damage, recruited to sites of double-strand breaks by the RPA complex (PubMed:26774285). Recruited to chromatin following DNA damage induced by UV irradiation, or camptothecin or hydroxyurea treatment (PubMed:22194613). {ECO:0000269|PubMed:15146062, ECO:0000269|PubMed:22194613, ECO:0000269|PubMed:26774285}.


uniprotID: Q9NRZ9
geneSymbol: HELLS
length: 838
go: ENSG00000119969;
snps: rs879253733
name:
Lymphoid-specific helicase (EC 3.6.4.-) (Proliferation-associated SNF2-like protein) (SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6)

sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; cell cycle [GO:0007049]; cell division [GO:0051301]; lymphocyte proliferation [GO:0046651]; maintenance of DNA methylation [GO:0010216]; methylation-dependent chromatin silencing [GO:0006346]; multicellular organism development [GO:0007275]; pericentric heterochromatin assembly [GO:0031508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1 {ECO:0000269|PubMed:10910076}; IsoId=Q9NRZ9-1; Sequence=Displayed; Name=2; IsoId=Q9NRZ9-2; Sequence=VSP_052224; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:15305370}; IsoId=Q9NRZ9-3; Sequence=VSP_052228; Name=4 {ECO:0000269|PubMed:15305370}; IsoId=Q9NRZ9-4; Sequence=VSP_052234; Name=5 {ECO:0000269|PubMed:15305370}; IsoId=Q9NRZ9-5; Sequence=VSP_052231; Name=6 {ECO:0000269|PubMed:15305370}; IsoId=Q9NRZ9-6; Sequence=VSP_052227; Name=7 {ECO:0000269|PubMed:15305370}; IsoId=Q9NRZ9-7; Sequence=VSP_052232, VSP_052233; Name=8 {ECO:0000269|PubMed:15305370}; IsoId=Q9NRZ9-8; Sequence=VSP_052229, VSP_052230; Name=9 {ECO:0000269|PubMed:15305370}; IsoId=Q9NRZ9-9; Sequence=VSP_052225, VSP_052226; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Closely associated with pericentric heterochromatin. {ECO:0000250}.


uniprotID: Q9ULT8
geneSymbol: HECTD1
reactome: R-HSA-983168;
pdb: 2DK3;2LC3;3DKM;
length: 2610
snps: rs11620816 rs1315794
name:
E3 ubiquitin-protein ligase HECTD1 (EC 2.3.2.26) (E3 ligase for inhibin receptor) (EULIR) (HECT domain-containing protein 1) (HECT-type E3 ubiquitin transferase HECTD1)

sequence:

opentargets:
metal ion binding [GO:0046872]; ubiquitin-protein transferase activity [GO:0004842]; protein K63-linked ubiquitination [GO:0070534]


uniprotID: Q5U5R9
geneSymbol: HECTD2
reactome: R-HSA-983168;
length: 776
go: ENSG00000165338;
snps: rs7081569
name:
Probable E3 ubiquitin-protein ligase HECTD2 (EC 2.3.2.26) (HECT domain-containing protein 2) (HECT-type E3 ubiquitin transferase HECTD2)

sequence:

opentargets:
cytosol [GO:0005829]; ubiquitin-protein transferase activity [GO:0004842]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5U5R9-1; Sequence=Displayed; Name=2; IsoId=Q5U5R9-2; Sequence=VSP_044965, VSP_044966; Note=No experimental confirmation available.; 


uniprotID: F8WCM5
geneSymbol: INS-IGF2
name: Insulin, isoform 2 (INS-IGF2 readthrough transcript protein)
length: 200
go: ENSG00000129965;
opentargets: extracellular region [GO:0005576]; hormone activity [GO:0005179]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=INS-IGF2; IsoId=F8WCM5-1; Sequence=Displayed; Note=Based on a readthrough transcript which may produce an INS-IGF2 fusion protein.; Name=1; IsoId=P01308-1; Sequence=External; 


uniprotID: P14616
geneSymbol: INSRR
length: 1297
go: ENSG00000027644;
snps: rs55757706 rs55971900 rs55951840 rs56377825 rs56068937 rs56252149
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Insulin receptor-related protein (IRR) (EC 2.7.10.1) (IR-related receptor) [Cleaved into: Insulin receptor-related protein alpha chain; Insulin receptor-related protein beta chain]

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; insulin receptor complex [GO:0005899]; integral component of plasma membrane [GO:0005887]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; insulin receptor substrate binding [GO:0043560]; insulin-activated receptor activity [GO:0005009]; phosphatidylinositol 3-kinase binding [GO:0043548]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; actin cytoskeleton reorganization [GO:0031532]; cell differentiation [GO:0030154]; cellular response to alkaline pH [GO:0071469]; glucose homeostasis [GO:0042593]; male sex determination [GO:0030238]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; protein autophosphorylation [GO:0046777]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]


uniprotID: P01308
geneSymbol: INS
name: Insulin [Cleaved into: Insulin B chain; Insulin A chain]
length: 110
go: ENSG00000254647;
drug: DB01776;DB08231;
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-210745;R-HSA-264876;R-HSA-422085;R-HSA-422356;R-HSA-6807878;R-HSA-6811558;R-HSA-74713;R-HSA-74749;R-HSA-74751;R-HSA-74752;R-HSA-77387;R-HSA-977225;

pdb:
1A7F;1AI0;1AIY;1B9E;1BEN;1EFE;1EV3;1EV6;1EVR;1FU2;1FUB;1G7A;1G7B;1GUJ;1HIQ;1HIS;1HIT;1HLS;1HTV;1HUI;1IOG;1IOH;1J73;1JCA;1JCO;1JK8;1K3M;1KMF;1LKQ;1LPH;1MHI;1MHJ;1MSO;1OS3;1OS4;1Q4V;1QIY;1QIZ;1QJ0;1RWE;1SF1;1SJT;1SJU;1T0C;1T1K;1T1P;1T1Q;1TRZ;1TYL;1TYM;1UZ9;1VKT;1W8P;1XDA;1XGL;1XW7;1ZEG;1ZEH;1ZNJ;2AIY;2C8Q;2C8R;2CEU;2G54;2G56;2H67;2HH4;2HHO;2HIU;2JMN;2JUM;2JUU;2JUV;2JV1;2JZQ;2K91;2K9R;2KJJ;2KJU;2KQP;2KQQ;2KXK;2L1Y;2L1Z;2LGB;2LWZ;2M1D;2M1E;2M2M;2M2N;2M2O;2M2P;2MLI;2MPG;2MPI;2MVC;2MVD;2N2V;2N2W;2N2X;2OLY;2OLZ;2OM0;2OM1;2OMG;2OMH;2OMI;2OMQ;2QIU;2R34;2R35;2R36;2RN5;2VJZ;2VK0;2W44;2WBY;2WC0;2WRU;2WRV;2WRW;2WRX;2WS0;2WS1;2WS4;2WS6;2WS7;3AIY;3BXQ;3E7Y;3E7Z;3EXX;3FQ9;3HYD;3I3Z;3I40;3ILG;3INC;3IR0;3JSD;3KQ6;3P2X;3P33;3Q6E;3ROV;3TT8;3U4N;3UTQ;3UTS;3UTT;3V19;3V1G;3W11;3W12;3W13;3W7Y;3W7Z;3W80;3ZI3;3ZQR;3ZS2;3ZU1;4AIY;4AJX;4AJZ;4AK0;4AKJ;4CXL;4CXN;4CY7;4EFX;4EWW;4EWX;4EWZ;4EX0;4EX1;4EXX;4EY1;4EY9;4EYD;4EYN;4EYP;4F0N;4F0O;4F1A;4F1B;4F1C;4F1D;4F1F;4F1G;4F4T;4F4V;4F51;4F8F;4FG3;4FKA;4GBC;4GBI;4GBK;4GBL;4GBN;4IUZ;4IYD;4IYF;4NIB;4OGA;4P65;4RXW;4UNE;4UNG;4UNH;4WDI;4XC4;4Y19;4Y1A;4Z76;4Z77;4Z78;5AIY;5BOQ;5BPO;5BQQ;5BTS;5C0D;5CJO;5CNY;5CO2;5CO6;5CO9;5E7W;5EMS;5EN9;5ENA;5HPR;5HPU;5HQI;5HRQ;5HYJ;5MAM;5MHD;5MT3;5MT9;5MWQ;5T7R;5UDP;5UOZ;5UQA;5URT;5URU;5USP;5USS;5USV;5UU2;5UU3;5UU4;5VIZ;5WBT;5WDM;5WOB;6B3Q;6B70;6BFC;6CE7;6CE9;6CEB;6CK2;

sequence:
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPLALEGSLQKRGIVEQCCTSICSLYQLENYCN

opentargets:
endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; endosome lumen [GO:0031904]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; Golgi membrane [GO:0000139]; secretory granule lumen [GO:0034774]; transport vesicle [GO:0030133]; hormone activity [GO:0005179]; identical protein binding [GO:0042802]; insulin receptor binding [GO:0005158]; insulin-like growth factor receptor binding [GO:0005159]; protease binding [GO:0002020]; activation of protein kinase B activity [GO:0032148]; acute-phase response [GO:0006953]; alpha-beta T cell activation [GO:0046631]; cell-cell signaling [GO:0007267]; cellular protein metabolic process [GO:0044267]; cognition [GO:0050890]; ER to Golgi vesicle-mediated transport [GO:0006888]; fatty acid homeostasis [GO:0055089]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; insulin receptor signaling pathway [GO:0008286]; negative regulation of acute inflammatory response [GO:0002674]; negative regulation of blood vessel diameter [GO:0097756]; negative regulation of fatty acid metabolic process [GO:0045922]; negative regulation of feeding behavior [GO:2000252]; negative regulation of gluconeogenesis [GO:0045721]; negative regulation of glycogen catabolic process [GO:0045818]; negative regulation of lipid catabolic process [GO:0050995]; negative regulation of NAD(P)H oxidase activity [GO:0033861]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of protein oligomerization [GO:0032460]; negative regulation of protein secretion [GO:0050709]; negative regulation of proteolysis [GO:0045861]; negative regulation of reactive oxygen species biosynthetic process [GO:1903427]; negative regulation of respiratory burst involved in inflammatory response [GO:0060266]; neuron projection maintenance [GO:1990535]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of brown fat cell differentiation [GO:0090336]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of dendritic spine maintenance [GO:1902952]; positive regulation of gene expression [GO:0010628]; positive regulation of glucose import [GO:0046326]; positive regulation of glycogen biosynthetic process [GO:0045725]; positive regulation of glycolytic process [GO:0045821]; positive regulation of insulin receptor signaling pathway [GO:0046628]; positive regulation of lipid biosynthetic process [GO:0046889]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of nitric oxide mediated signal transduction [GO:0010750]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of peptide hormone secretion [GO:0090277]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein autophosphorylation [GO:0031954]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of respiratory burst [GO:0060267]; regulation of cellular amino acid metabolic process [GO:0006521]; regulation of protein localization [GO:0032880]; regulation of protein localization to plasma membrane [GO:1903076]; regulation of protein secretion [GO:0050708]; regulation of synaptic plasticity [GO:0048167]; regulation of transcription, DNA-templated [GO:0006355]; regulation of transmembrane transporter activity [GO:0022898]; wound healing [GO:0042060]

snps:
rs121908278 rs121908259 rs80356663 rs121908272 rs80356664 rs80356664 rs121918101 rs121908273 rs80356666 rs121908260 rs80356667 rs80356668 rs80356668 rs148685531 rs121908261 rs121908279 rs121908274 rs80356669 rs28933985 rs28933985 rs80356670 rs121918102 rs80356671 rs80356671 rs121908276 rs121908277 rs80356672 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P01308-1; Sequence=Displayed; Name=2; Synonyms=INS-IGF2; IsoId=F8WCM5-1; Sequence=External; Note=Based on a readthrough transcript which may produce an INS-IGF2 fusion protein.; 


uniprotID: Q9NVM9
geneSymbol: INTS13
reactome: R-HSA-6807505;
length: 706
go: ENSG00000064102;
snps: rs2306852
name:
Integrator complex subunit 13 (Cell cycle regulator Mat89Bb homolog) (Germ cell tumor 1) (Protein asunder homolog) (Sarcoma antigen NY-SAR-95)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cell division [GO:0051301]; centrosome localization [GO:0051642]; flagellated sperm motility [GO:0030317]; mitotic spindle organization [GO:0007052]; protein localization to nuclear envelope [GO:0090435]; regulation of fertilization [GO:0080154]; regulation of mitotic cell cycle [GO:0007346]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVM9-1; Sequence=Displayed; Name=2; IsoId=Q9NVM9-2; Sequence=VSP_056514; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23904267}. Cytoplasm {ECO:0000269|PubMed:23097494, ECO:0000269|PubMed:23904267}. Note=Nuclear location is required for recruitment of dynein motors to nuclear envelope at G2/M. {ECO:0000269|PubMed:17974005}.


uniprotID: Q8N201
geneSymbol: INTS1
reactome: R-HSA-6807505;
name: Integrator complex subunit 1 (Int1)
length: 2190
go: ENSG00000164880;
snps: rs3752714
location: SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integrator complex [GO:0032039]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; snRNA processing [GO:0016180]; snRNA transcription by RNA polymerase II [GO:0042795]; U2 snRNA 3'-end processing [GO:0034474]


uniprotID: P08397
geneSymbol: HMBS
reactome: R-HSA-189451;
pdb: 3ECR;3EQ1;5M6R;5M7F;
length: 361
go: ENSG00000256269;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Porphobilinogen deaminase (PBG-D) (EC 2.5.1.61) (Hydroxymethylbilane synthase) (HMBS) (Pre-uroporphyrinogen synthase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; hydroxymethylbilane synthase activity [GO:0004418]; heme biosynthetic process [GO:0006783]; peptidyl-pyrromethane cofactor linkage [GO:0018160]; protoporphyrinogen IX biosynthetic process [GO:0006782]

snps:
rs189159450 rs998842815 rs118204103 rs118204104 rs118204105 rs974712040 rs118204106 rs761004837 rs118204119 rs150763621 rs118204107 rs118204094 rs551209435 rs118204098 rs118204095 rs118204101 rs118204096 rs575222284 rs118204108 rs536814318 rs34413634 rs118204109 rs914335144 rs1007859875 rs772471000 rs118204116 rs1261947877 rs118204110 rs142459647 rs118204099 rs118204111 rs118204112 rs118204113 rs118204114 rs118204115 rs990831395 rs1057521126 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Non-erythropoietic; IsoId=P08397-1; Sequence=Displayed; Name=2; Synonyms=Erythrocyte; IsoId=P08397-2; Sequence=VSP_002067; Name=3; IsoId=P08397-3; Sequence=VSP_047294; Note=No experimental confirmation available.; Name=4; IsoId=P08397-4; Sequence=VSP_002067, VSP_047294; Note=No experimental confirmation available.; 


uniprotID: Q9ULD6
geneSymbol: INTU
reactome: R-HSA-5610787;
name: Protein inturned (Inturned planar cell polarity effector homolog) (PDZ domain-containing protein 6)
length: 942
go: ENSG00000164066;
snps: rs150681845 rs1360128571
sequence:

opentargets:
cell surface [GO:0009986]; ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; motile cilium [GO:0031514]; cilium assembly [GO:0060271]; embryonic digit morphogenesis [GO:0042733]; establishment of planar polarity [GO:0001736]; hair follicle morphogenesis [GO:0031069]; keratinocyte differentiation [GO:0030216]; limb development [GO:0060173]; motile cilium assembly [GO:0044458]; negative regulation of cell division [GO:0051782]; negative regulation of keratinocyte proliferation [GO:0010839]; nervous system development [GO:0007399]; neural tube development [GO:0021915]; non-motile cilium assembly [GO:1905515]; positive regulation of smoothened signaling pathway [GO:0045880]; regulation of ossification [GO:0030278]; regulation of smoothened signaling pathway [GO:0008589]; spinal cord dorsal/ventral patterning [GO:0021513]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9ULD6-1; Sequence=Displayed; Name=2; IsoId=Q9ULD6-2; Sequence=VSP_015073, VSP_015074; 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=Q9ULD6-3; Sequence=VSP_042586, VSP_042587; Note=No experimental confirmation available.; Name=4; IsoId=Q9ULD6-4; Sequence=VSP_042585; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q059U7}. Cell surface {ECO:0000250|UniProtKB:Q2I0E5}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:26644512}. Note=Enriched at the apical surface in ciliated cells. {ECO:0000250}.


uniprotID: Q9BXL5
geneSymbol: HEMGN
length: 484
go: ENSG00000136929;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14730214}.
name:
Hemogen (Erythroid differentiation-associated gene protein) (EDAG-1) (Hemopoietic gene protein) (Negative differentiation regulator protein)

sequence:

opentargets:
nucleoplasm [GO:0005654]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; regulation of osteoblast differentiation [GO:0045667]


uniprotID: P05546
geneSymbol: SERPIND1
reactome: R-HSA-140837;R-HSA-140875;R-HSA-381426;R-HSA-8957275;
pdb: 1JMJ;1JMO;2NAT;2NCU;2NCV;2NCW;
length: 499
go: ENSG00000099937;
drug: DB00407;DB06271;
snps: rs5905 rs165867 rs34324685 rs11542069 rs5907 rs1042435 rs5904 rs142451096 rs121912420
name:
Heparin cofactor 2 (Heparin cofactor II) (HC-II) (Protease inhibitor leuserpin-2) (HLS2) (Serpin D1)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; endopeptidase inhibitor activity [GO:0004866]; heparin binding [GO:0008201]; serine-type endopeptidase inhibitor activity [GO:0004867]; blood coagulation [GO:0007596]; cellular protein metabolic process [GO:0044267]; chemotaxis [GO:0006935]; negative regulation of endopeptidase activity [GO:0010951]; post-translational protein modification [GO:0043687]


uniprotID: Q92551
geneSymbol: IP6K1
reactome: R-HSA-1855167;R-HSA-1855191;
name: Inositol hexakisphosphate kinase 1 (InsP6 kinase 1) (EC 2.7.4.21) (Inositol hexaphosphate kinase 1)
length: 441
go: ENSG00000176095;
sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; inositol 5-diphosphate pentakisphosphate 5-kinase activity [GO:0052836]; inositol diphosphate tetrakisphosphate kinase activity [GO:0052839]; inositol heptakisphosphate kinase activity [GO:0000829]; inositol hexakisphosphate 1-kinase activity [GO:0052723]; inositol hexakisphosphate 3-kinase activity [GO:0052724]; inositol hexakisphosphate 5-kinase activity [GO:0000832]; inositol hexakisphosphate kinase activity [GO:0000828]; inositol-1,3,4,5,6-pentakisphosphate kinase activity [GO:0000827]; inositol phosphate biosynthetic process [GO:0032958]; inositol phosphate metabolic process [GO:0043647]; negative regulation of cold-induced thermogenesis [GO:0120163]; phosphatidylinositol phosphorylation [GO:0046854]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92551-1; Sequence=Displayed; Name=2; IsoId=Q92551-2; Sequence=VSP_042756; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11502751}. Nucleus {ECO:0000269|PubMed:11502751}.


uniprotID: Q9UHH9
geneSymbol: IP6K2
reactome: R-HSA-1855191;R-HSA-909733;
name: Inositol hexakisphosphate kinase 2 (InsP6 kinase 2) (EC 2.7.4.21) (P(i)-uptake stimulator) (PiUS)
length: 426
go: ENSG00000068745;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11502751}.
sequence:

opentargets:
cell junction [GO:0030054]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; inositol 5-diphosphate pentakisphosphate 5-kinase activity [GO:0052836]; inositol diphosphate tetrakisphosphate kinase activity [GO:0052839]; inositol heptakisphosphate kinase activity [GO:0000829]; inositol hexakisphosphate 1-kinase activity [GO:0052723]; inositol hexakisphosphate 3-kinase activity [GO:0052724]; inositol hexakisphosphate 5-kinase activity [GO:0000832]; inositol hexakisphosphate kinase activity [GO:0000828]; inositol-1,3,4,5,6-pentakisphosphate kinase activity [GO:0000827]; inositol phosphate biosynthetic process [GO:0032958]; inositol phosphate metabolic process [GO:0043647]; negative regulation of cell growth [GO:0030308]; phosphate ion transport [GO:0006817]; phosphatidylinositol phosphorylation [GO:0046854]; positive regulation of apoptotic process [GO:0043065]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9UHH9-1; Sequence=Displayed; Name=2; IsoId=Q9UHH9-2; Sequence=VSP_010925, VSP_010928; Name=3; IsoId=Q9UHH9-3; Sequence=VSP_010926, VSP_010927; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q9UHH9-4; Sequence=VSP_042698, VSP_042699, VSP_042700; Name=5; IsoId=Q9UHH9-5; Sequence=VSP_042845, VSP_042699, VSP_042700; Name=6; IsoId=Q9UHH9-6; Sequence=VSP_045416, VSP_045417; Note=No experimental confirmation available.; 


uniprotID: Q15034
geneSymbol: HERC3
reactome: R-HSA-983168;
length: 1050
go: ENSG00000138641;
snps: rs1804080
location: SUBCELLULAR LOCATION: Cytoplasm. Cytoplasmic vesicle. Note=Also found in vesicular-like structures.
name:
Probable E3 ubiquitin-protein ligase HERC3 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 3) (HECT-type E3 ubiquitin transferase HERC3)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; ubiquitin-protein transferase activity [GO:0004842]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15034-1; Sequence=Displayed; Name=2; IsoId=Q15034-2; Sequence=VSP_056343, VSP_056344; Note=No experimental confirmation available.; 


uniprotID: Q5GLZ8
geneSymbol: HERC4
reactome: R-HSA-983168;
length: 1057
go: ENSG00000148634;
name:
Probable E3 ubiquitin-protein ligase HERC4 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 4) (HECT-type E3 ubiquitin transferase HERC4)

sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; ubiquitin-protein transferase activity [GO:0004842]; cell differentiation [GO:0030154]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q5GLZ8-1; Sequence=Displayed; Name=2; IsoId=Q5GLZ8-2; Sequence=VSP_023178; Name=3; IsoId=Q5GLZ8-3; Sequence=VSP_023179; Name=4; IsoId=Q5GLZ8-4; Sequence=VSP_023174, VSP_023175; Name=5; Synonyms=2; IsoId=Q5GLZ8-5; Sequence=VSP_023173, VSP_023176; Name=6; IsoId=Q5GLZ8-6; Sequence=VSP_023172, VSP_039551; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15676274}. Note=shows a punctate cytoplasmic distribution.


uniprotID: Q8IVU3
geneSymbol: HERC6
reactome: R-HSA-983168;
pdb: 5W87;
length: 1022
go: ENSG00000138642;
snps: rs7677237 rs12510688 rs17014118 rs6532068
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15676274}.
name:
Probable E3 ubiquitin-protein ligase HERC6 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 6) (HECT-type E3 ubiquitin transferase HERC6)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; ubiquitin-protein transferase activity [GO:0004842]; hematopoietic progenitor cell differentiation [GO:0002244]; protein polyubiquitination [GO:0000209]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IVU3-1; Sequence=Displayed; Note=Major transcript.; Name=2; IsoId=Q8IVU3-2; Sequence=VSP_023185; Note=Minor transcript.; Name=3; IsoId=Q8IVU3-3; Sequence=VSP_023183, VSP_023184; Note=Minor transcript.; 


uniprotID: Q9Y2N7
geneSymbol: HIF3A
reactome: R-HSA-1234158;R-HSA-1234176;R-HSA-452723;R-HSA-8951664;
pdb: 4WN5;
length: 669
go: ENSG00000124440;
snps: rs3764609 rs7253301
name:
Hypoxia-inducible factor 3-alpha (HIF-3-alpha) (HIF3-alpha) (Basic-helix-loop-helix-PAS protein MOP7) (Class E basic helix-loop-helix protein 17) (bHLHe17) (HIF3-alpha-1) (Inhibitory PAS domain protein) (IPAS) (Member of PAS protein 7) (PAS domain-containing protein 7)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-translational protein modification [GO:0043687]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist. {ECO:0000303|PubMed:12538644, ECO:0000303|PubMed:20416395}; Name=1; IsoId=Q9Y2N7-1; Sequence=Displayed; Name=2; Synonyms=HIF-3alpha1 {ECO:0000303|PubMed:12538644}; IsoId=Q9Y2N7-2; Sequence=VSP_024520; Name=3; Synonyms=HIF-3alpha2 {ECO:0000303|PubMed:12538644}; IsoId=Q9Y2N7-3; Sequence=VSP_024526; Name=4; Synonyms=HIF-3alpha4 {ECO:0000303|PubMed:12538644}; IsoId=Q9Y2N7-4; Sequence=VSP_024523, VSP_024525; Name=5; Synonyms=HIF-3alpha3 {ECO:0000303|PubMed:12538644}; IsoId=Q9Y2N7-5; Sequence=VSP_024519; Note=Incomplete sequence. No experimental confirmation available.; Name=6; Synonyms=HIF-3alpha6 {ECO:0000303|PubMed:12538644}; IsoId=Q9Y2N7-6; Sequence=VSP_024518, VSP_024521; Note=Incomplete sequence. No experimental confirmation available.; Name=7; IsoId=Q9Y2N7-7; Sequence=VSP_043429; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16775626, ECO:0000269|PubMed:19694616}. Cytoplasm {ECO:0000269|PubMed:19694616}. Nucleus speckle {ECO:0000250|UniProtKB:Q0VBL6}. Mitochondrion {ECO:0000250|UniProtKB:Q0VBL6}. Note=In the nuclei of all periportal and perivenous hepatocytes. In the distal perivenous zone, detected in the cytoplasm of the hepatocytes. Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner. Colocalizes with BAD in the cytoplasm. Colocalizes with EPAS1 and HIF1A in the nucleus and speckles (By similarity). Localized in the cytoplasm and nuclei under normoxia, but increased in the nucleus under hypoxic conditions (PubMed:19694616). Colocalized with HIF1A in kidney tumors (PubMed:19694616). {ECO:0000250|UniProtKB:Q0VBL6, ECO:0000250|UniProtKB:Q9JHS2, ECO:0000269|PubMed:19694616}.


uniprotID: Q86Z02
geneSymbol: HIPK1
reactome: R-HSA-2032785;R-HSA-5578768;R-HSA-6804756;
name: Homeodomain-interacting protein kinase 1 (EC 2.7.11.1) (Nuclear body-associated kinase 2)
length: 1210
go: ENSG00000163349;
snps: rs35324789 rs34335651
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; adherens junction assembly [GO:0034333]; anterior/posterior pattern specification [GO:0009952]; definitive hemopoiesis [GO:0060216]; embryonic camera-type eye morphogenesis [GO:0048596]; embryonic retina morphogenesis in camera-type eye [GO:0060059]; endothelial cell apoptotic process [GO:0072577]; extrinsic apoptotic signaling pathway [GO:0097191]; eye development [GO:0001654]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; iris morphogenesis [GO:0061072]; lens induction in camera-type eye [GO:0060235]; neuron differentiation [GO:0030182]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell proliferation [GO:0008284]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; retina layer formation [GO:0010842]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=HIPK1-alpha; IsoId=Q86Z02-1; Sequence=Displayed; Name=2; Synonyms=HIPK1-beta; IsoId=Q86Z02-2; Sequence=VSP_013130, VSP_013131; Name=3; IsoId=Q86Z02-3; Sequence=VSP_013128; Name=4; IsoId=Q86Z02-4; Sequence=VSP_013127, VSP_013129; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Predominantly nuclear. Translocates from nucleus to cytoplasm in response to stress stimuli via SENP1-mediated desumoylation.


uniprotID: Q8NA54
geneSymbol: IQUB
pdb: 2DAF;
name: IQ and ubiquitin-like domain-containing protein
length: 791
go: ENSG00000164675;
snps: rs10255061 rs17146009 rs1525626 rs1525626
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; motile cilium [GO:0031514]; cilium assembly [GO:0060271]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NA54-1; Sequence=Displayed; Name=2; IsoId=Q8NA54-2; Sequence=VSP_022830, VSP_022831; Note=No experimental confirmation available.; 


uniprotID: Q9Y5U9
geneSymbol: IER3IP1
name: Immediate early response 3-interacting protein 1
sequence: MAFTLYSLLQAALLCVNAIAVLHEERFLKNIGWGTDQGIGGFGEEPGIKSQLMNLIRSVRTVMRVPLIIVNSIAIVLLLLFG
length: 82
go: ENSG00000134049;
snps: rs387907011 rs387907012
opentargets:
COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of Golgi membrane [GO:0030173]; membrane [GO:0016020]; ER to Golgi vesicle-mediated transport [GO:0006888]; regulation of fibroblast apoptotic process [GO:2000269]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15276200}; Multi-pass membrane protein {ECO:0000269|PubMed:15276200}.


uniprotID: Q6UWX4
geneSymbol: HHIPL2
name: HHIP-like protein 2
length: 724
go: ENSG00000143512;
opentargets: extracellular region [GO:0005576]; catalytic activity [GO:0003824]
snps: rs3811466 rs3748666 rs3748665 rs3748663
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q9NWZ3
geneSymbol: IRAK4
length: 460
go: ENSG00000198001;
drug: DB08590;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21325272}.
reactome:
R-HSA-1257604;R-HSA-166058;R-HSA-5603037;R-HSA-5603041;R-HSA-6811558;R-HSA-9020702;R-HSA-975110;R-HSA-975138;R-HSA-975155;R-HSA-975871;

pdb:
2NRU;2NRY;2O8Y;2OIB;2OIC;2OID;3MOP;4RMZ;4U97;4U9A;4XS2;4Y73;4YO6;4YP8;4ZTL;4ZTM;4ZTN;5K72;5K75;5K76;5K7G;5K7I;5KX7;5KX8;5T1S;5T1T;5UIQ;5UIR;5UIS;5UIT;5UIU;5W84;5W85;6F3D;6F3E;6F3G;6F3I;

name:
Interleukin-1 receptor-associated kinase 4 (IRAK-4) (EC 2.7.11.1) (Renal carcinoma antigen NY-REN-64)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; extracellular space [GO:0005615]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; interleukin-1 receptor binding [GO:0005149]; magnesium ion binding [GO:0000287]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; cytokine production [GO:0001816]; cytokine-mediated signaling pathway [GO:0019221]; innate immune response [GO:0045087]; interleukin-1-mediated signaling pathway [GO:0070498]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; neutrophil mediated immunity [GO:0002446]; neutrophil migration [GO:1990266]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of smooth muscle cell proliferation [GO:0048661]; toll-like receptor 9 signaling pathway [GO:0034162]; toll-like receptor signaling pathway [GO:0002224]

snps:
rs56312115 rs377584435 rs143625818 rs138116867 rs113588409 rs4251469 rs568782766 rs142376871 rs4251583 rs55944915 rs4251545 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWZ3-1; Sequence=Displayed; Name=2; IsoId=Q9NWZ3-2; Sequence=VSP_041556; 


uniprotID: Q9BUE6
geneSymbol: ISCA1
reactome: R-HSA-1362409;
length: 129
go: ENSG00000135070;
snps: rs776679653
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15262227, ECO:0000269|PubMed:22323289}.
name:
Iron-sulfur cluster assembly 1 homolog, mitochondrial (HESB-like domain-containing protein 2) (Iron-sulfur assembly protein IscA) (hIscA)

sequence:
MSASLVRATVRAVSKRKLQPTRAALTLTPSAVNKIKQLLKDKPEHVGVKVGVRTRGCNGLSYTLEYTKTKGDSDEEVIQDGVRVFIEKKAQLTLLGTEMDYVEDKLSSEFVFNNPNIKGTCGCGESFNI

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 2 iron, 2 sulfur cluster binding [GO:0051537]; metal ion binding [GO:0046872]; structural molecule activity [GO:0005198]; iron-sulfur cluster assembly [GO:0016226]; protein maturation by iron-sulfur cluster transfer [GO:0097428]; small molecule metabolic process [GO:0044281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BUE6-1; Sequence=Displayed; Name=2; IsoId=Q9BUE6-2; Sequence=VSP_057035; Note=No experimental confirmation available.; 


uniprotID: Q86U28
geneSymbol: ISCA2
reactome: R-HSA-1362409;
name: Iron-sulfur cluster assembly 2 homolog, mitochondrial (HESB-like domain-containing protein 1)
length: 154
go: ENSG00000165898;
snps: rs730882246
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22323289}.
sequence:
MAAAWGSSLTAATQRAVTPWPRGRLLTASLGPQARREASSSSPEAGEGQIRLTDSCVQRLLEITEGSEFLRLQVEGGGCSGFQYKFSLDTVINPDDRVFEQGGARVVVDSDSLAFVKGAQVDFSQELIRSSFQVLNNPQAQQGCSCGSSFSIKL

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 2 iron, 2 sulfur cluster binding [GO:0051537]; 4 iron, 4 sulfur cluster binding [GO:0051539]; iron ion binding [GO:0005506]; structural molecule activity [GO:0005198]; iron-sulfur cluster assembly [GO:0016226]; protein maturation [GO:0051604]; protein maturation by iron-sulfur cluster transfer [GO:0097428]; small molecule metabolic process [GO:0044281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86U28-1; Sequence=Displayed; Name=2; IsoId=Q86U28-2; Sequence=VSP_055691, VSP_055692; Note=No experimental confirmation available. Derived from EST data.; 


uniprotID: Q1W4C9
geneSymbol: SPINK13
sequence: MAAFPHKIIFFLVCSTLTHVAFSGIFNKRDFTRWPKPRCKMYIPLDPDYNADCPNVTAPVCASNGHTFQNECFFCVEQREFHYRIKFEKYGKCD
length: 94
go: ENSG00000214510;
name:
Serine protease inhibitor Kazal-type 13 (Hepatitis B virus DNA polymerase transactivated serine protease inhibitor) (Hespintor) (Serine protease inhibitor Kazal-type 5-like 3)

opentargets:
extracellular region [GO:0005576]; serine-type endopeptidase inhibitor activity [GO:0004867]; negative regulation of acrosome reaction [GO:1902225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q1W4C9-1; Sequence=Displayed; Name=2; IsoId=Q1W4C9-2; Sequence=VSP_034842; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250}. Note=Secreted into the lumen of the initial segment of the epididymis and binds to sperm. In the initial segment of epididymis, localizes on the dorsal surface of the acrosomal region of sperm, gradually becomes more restricted to the acrosomal region in spermatozoa during epididymal transit (By similarity). {ECO:0000250}.


uniprotID: Q8NDA2
geneSymbol: HMCN2
name: Hemicentin-2
length: 5059
go: ENSG00000148357;
sequence:

opentargets:
basement membrane [GO:0005604]; cell cortex [GO:0005938]; cell junction [GO:0030054]; cleavage furrow [GO:0032154]; collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; response to stimulus [GO:0050896]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NDA2-1; Sequence=Displayed; Name=2; IsoId=Q8NDA2-2; Sequence=VSP_039367, VSP_039368; Note=No experimental confirmation available.; Name=3; IsoId=Q8NDA2-4; Sequence=VSP_058197, VSP_058198; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:A2AJ76}. Cleavage furrow {ECO:0000250|UniProtKB:A2AJ76}. Note=The antibody used to determine subcellular location does not distinguish between HMCN1 and HMCN2. {ECO:0000250|UniProtKB:A2AJ76}.


uniprotID: Q8TCT9
geneSymbol: HM13
length: 377
go: ENSG00000101294;
snps: rs1044419
name:
Minor histocompatibility antigen H13 (EC 3.4.23.-) (Intramembrane protease 1) (IMP-1) (IMPAS-1) (hIMP1) (Presenilin-like protein 3) (Signal peptide peptidase)

sequence:

opentargets:
cell surface [GO:0009986]; Derlin-1 retrotranslocation complex [GO:0036513]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of cytoplasmic side of endoplasmic reticulum membrane [GO:0071458]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; membrane [GO:0016020]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; aspartic endopeptidase activity, intramembrane cleaving [GO:0042500]; peptidase activity [GO:0008233]; protein homodimerization activity [GO:0042803]; ubiquitin protein ligase binding [GO:0031625]; membrane protein proteolysis [GO:0033619]; membrane protein proteolysis involved in retrograde protein transport, ER to cytosol [GO:1904211]; protein homotetramerization [GO:0051289]; signal peptide processing [GO:0006465]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TCT9-1; Sequence=Displayed; Name=2; IsoId=Q8TCT9-2; Sequence=VSP_005196; Name=4; IsoId=Q8TCT9-4; Sequence=VSP_015083; Name=5; IsoId=Q8TCT9-5; Sequence=VSP_015082; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15998642}; Multi-pass membrane protein {ECO:0000305}. Membrane {ECO:0000269|PubMed:12077416, ECO:0000269|PubMed:15385547}; Multi-pass membrane protein {ECO:0000305}; Lumenal side {ECO:0000269|PubMed:12077416, ECO:0000269|PubMed:15385547}.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane {ECO:0000250|UniProtKB:Q9D8V0}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9D8V0}.


uniprotID: Q9BUJ2
geneSymbol: HNRNPUL1
reactome: R-HSA-72163;
length: 856
go: ENSG00000105323;
snps: rs17849624
name:
Heterogeneous nuclear ribonucleoprotein U-like protein 1 (Adenovirus early region 1B-associated protein 5) (E1B-55 kDa-associated protein 5) (E1B-AP5)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; enzyme binding [GO:0019899]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; response to virus [GO:0009615]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Isoform a; IsoId=Q9BUJ2-1; Sequence=Displayed; Name=2; Synonyms=Isoform b; IsoId=Q9BUJ2-2; Sequence=VSP_017552; Name=3; IsoId=Q9BUJ2-3; Sequence=VSP_017548, VSP_017549, VSP_017551; Name=4; IsoId=Q9BUJ2-4; Sequence=VSP_017547; Name=5; IsoId=Q9BUJ2-5; Sequence=VSP_017546, VSP_017550, VSP_017551; Note=May be due to intron retention. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11513728, ECO:0000269|PubMed:12489984, ECO:0000269|PubMed:9733834}.


uniprotID: Q9NQ38
geneSymbol: SPINK5
reactome: R-HSA-6809371;
pdb: 1H0Z;1HDL;1UUC;1UVF;1UVG;
length: 1064
go: ENSG00000133710;
location: SUBCELLULAR LOCATION: Secreted.
name:
Serine protease inhibitor Kazal-type 5 (Lympho-epithelial Kazal-type-related inhibitor) (LEKTI) [Cleaved into: Hemofiltrate peptide HF6478; Hemofiltrate peptide HF7665]

sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; epidermal lamellar body [GO:0097209]; extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; perinuclear region of cytoplasm [GO:0048471]; serine-type endopeptidase inhibitor activity [GO:0004867]; cornification [GO:0070268]; epidermal cell differentiation [GO:0009913]; epithelial cell differentiation [GO:0030855]; extracellular matrix organization [GO:0030198]; hair cell differentiation [GO:0035315]; negative regulation of angiogenesis [GO:0016525]; negative regulation of antibacterial peptide production [GO:0002787]; negative regulation of immune response [GO:0050777]; negative regulation of serine-type endopeptidase activity [GO:1900004]; regulation of cell adhesion [GO:0030155]; regulation of T cell differentiation [GO:0045580]; regulation of timing of anagen [GO:0051884]

snps:
rs6892205 rs34482796 rs2303063 rs2303064 rs17775319 rs2303067 rs34393923 rs35877540 rs3777134 rs2303070 rs28408445 rs3188691 rs17705005 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=f-l; IsoId=Q9NQ38-1; Sequence=Displayed; Name=short; IsoId=Q9NQ38-2; Sequence=VSP_040019, VSP_040021; Name=long; IsoId=Q9NQ38-3; Sequence=VSP_040020; 


uniprotID: P01893
geneSymbol: HLA-H
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-6798695;R-HSA-877300;R-HSA-909733;R-HSA-983170;
length: 362
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Putative HLA class I histocompatibility antigen, alpha chain H (HLA-12.4) (HLA-AR) (MHC class I antigen H)

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; cell surface [GO:0009986]; early endosome membrane [GO:0031901]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; signaling receptor binding [GO:0005102]; antigen processing and presentation of endogenous peptide antigen via MHC class Ib [GO:0002476]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; neutrophil degranulation [GO:0043312]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9NP66
geneSymbol: HMG20A
length: 347
go: ENSG00000140382;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
name:
High mobility group protein 20A (HMG box-containing protein 20A) (HMG domain-containing protein 1) (HMG domain-containing protein HMGX1)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of protein sumoylation [GO:0033234]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NP66-1; Sequence=Displayed; Name=2; IsoId=Q9NP66-2; Sequence=VSP_018621, VSP_018622; 


