# annotation

uniprotID: Q9NZN4
geneSymbol: EHD2
reactome: R-HSA-983231;
name: EH domain-containing protein 2 (PAST homolog 2)
length: 543
go: ENSG00000024422;
snps: rs34140460
sequence:

opentargets:
caveola [GO:0005901]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; extrinsic component of membrane [GO:0019898]; intercellular bridge [GO:0045171]; microtubule cytoskeleton [GO:0015630]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; GTP binding [GO:0005525]; hydrolase activity [GO:0016787]; identical protein binding [GO:0042802]; nucleic acid binding [GO:0003676]; protein domain specific binding [GO:0019904]; blood coagulation [GO:0007596]; cortical actin cytoskeleton organization [GO:0030866]; endocytic recycling [GO:0032456]; endocytosis [GO:0006897]; plasma membrane tubulation [GO:0097320]; positive regulation of endocytic recycling [GO:2001137]; positive regulation of myoblast fusion [GO:1901741]; protein localization to plasma membrane [GO:0072659]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZN4-1; Sequence=Displayed; Name=2; IsoId=Q9NZN4-2; Sequence=VSP_056212; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17233914}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q8BH64}; Cytoplasmic side {ECO:0000250|UniProtKB:Q8BH64}. Membrane, caveola {ECO:0000250|UniProtKB:Q8BH64}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q8BH64}; Cytoplasmic side {ECO:0000250|UniProtKB:Q8BH64}. Endosome membrane {ECO:0000250|UniProtKB:Q4V8H8}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q4V8H8}; Cytoplasmic side {ECO:0000250|UniProtKB:Q4V8H8}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q8BH64}. Note=Colocalizes with GLUT4 in intracellular tubulovesicular structures that are associated with cortical F-actin. Colocalizes with FER1L5 at plasma membrane in myoblasts and myotubes. {ECO:0000250|UniProtKB:Q8BH64}.


uniprotID: Q9BYJ0
geneSymbol: FGFBP2
reactome: R-HSA-190377;
length: 223
go: ENSG00000137441;
snps: rs35496730 rs2286459 rs758329
location: SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000269|PubMed:11342666}.
name:
Fibroblast growth factor-binding protein 2 (FGF-BP2) (FGF-binding protein 2) (FGFBP-2) (37 kDa killer-specific secretory protein) (Ksp37) (HBp17-related protein) (HBp17-RP)

sequence:

opentargets:
extracellular space [GO:0005615]; growth factor binding [GO:0019838]; cell-cell signaling [GO:0007267]


uniprotID: P11362
geneSymbol: FGFR1
length: 822
go: ENSG00000077782;
drug: DB08577;DB09078;DB09079;DB00039;DB08901;DB08896;DB00398;DB02058;DB05014;
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839120;R-HSA-1839122;R-HSA-190370;R-HSA-190373;R-HSA-190374;R-HSA-2219530;R-HSA-375165;R-HSA-445144;R-HSA-5654219;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654726;R-HSA-5655302;R-HSA-5673001;R-HSA-6811558;R-HSA-8853336;

pdb:
1AGW;1CVS;1EVT;1FGI;1FGK;1FQ9;1XR0;2CR3;2FGI;3C4F;3DPK;3GQI;3GQL;3JS2;3KRJ;3KRL;3KXX;3KY2;3OJV;3RHX;3TT0;4F63;4F64;4F65;4NK9;4NKA;4NKS;4RWI;4RWJ;4RWK;4RWL;4UWB;4UWC;4UWY;4V01;4V04;4V05;4WUN;4ZSA;5A46;5A4C;5AM6;5AM7;5B7V;5EW8;5FLF;5O49;5O4A;5UQ0;5UR1;5VND;5W21;5W59;5ZV2;

name:
Fibroblast growth factor receptor 1 (FGFR-1) (EC 2.7.10.1) (Basic fibroblast growth factor receptor 1) (BFGFR) (bFGF-R-1) (Fms-like tyrosine kinase 2) (FLT-2) (N-sam) (Proto-oncogene c-Fgr) (CD antigen CD331)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; ATP binding [GO:0005524]; fibroblast growth factor binding [GO:0017134]; fibroblast growth factor-activated receptor activity [GO:0005007]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein homodimerization activity [GO:0042803]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; receptor-receptor interaction [GO:0090722]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; angiogenesis [GO:0001525]; auditory receptor cell development [GO:0060117]; branching involved in salivary gland morphogenesis [GO:0060445]; cell differentiation [GO:0030154]; cell maturation [GO:0048469]; cell migration [GO:0016477]; chondrocyte differentiation [GO:0002062]; chordate embryonic development [GO:0043009]; embryonic limb morphogenesis [GO:0030326]; fibroblast growth factor receptor signaling pathway [GO:0008543]; fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development [GO:0035607]; in utero embryonic development [GO:0001701]; inner ear morphogenesis [GO:0042472]; lung-associated mesenchyme development [GO:0060484]; MAPK cascade [GO:0000165]; mesenchymal cell differentiation [GO:0048762]; midbrain development [GO:0030901]; middle ear morphogenesis [GO:0042474]; negative regulation of apoptotic process [GO:0043066]; negative regulation of fibroblast growth factor production [GO:0090272]; negative regulation of signal transduction [GO:0009968]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron migration [GO:0001764]; organ induction [GO:0001759]; outer ear morphogenesis [GO:0042473]; paraxial mesoderm development [GO:0048339]; peptidyl-tyrosine phosphorylation [GO:0018108]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endothelial cell chemotaxis to fibroblast growth factor [GO:2000546]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway [GO:0090080]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of mitotic cell cycle DNA replication [GO:1903465]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of neuron projection development [GO:0010976]; positive regulation of parathyroid hormone secretion [GO:2000830]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of phospholipase activity [GO:0010518]; positive regulation of phospholipase C activity [GO:0010863]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling [GO:0060665]; regulation of cell differentiation [GO:0045595]; regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001239]; regulation of lateral mesodermal cell fate specification [GO:0048378]; regulation of phosphate transport [GO:0010966]; sensory perception of sound [GO:0007605]; skeletal system development [GO:0001501]; skeletal system morphogenesis [GO:0048705]; ureteric bud development [GO:0001657]; ventricular zone neuroblast division [GO:0021847]; vitamin D3 metabolic process [GO:0070640]

snps:
rs760884357 rs17175750 rs121909640 rs140254426 rs767195580 rs727505373 rs55642501 rs747842199 rs780765366 rs121913473 rs765615419 rs397515481 rs121909630 rs869025669 rs17851623 rs121909635 rs121909645 rs121909627 rs121913472 rs1131691929 rs727505369 rs121909633 rs121909632 rs121909638 rs886037634 rs121909641 rs121909631 rs121909634 rs121909637 rs397515444 rs869025670 rs749758370 rs779707422 rs121909629 rs121909628 rs398122946 rs869025671 rs869025672 rs869320694 rs397515446 rs727505376 rs397515445 rs768957161 rs1085307879 rs267606805 rs121909642 rs267606806 rs398122945 rs121909644 rs2956723 rs56234888 rs781328162 rs17182456 rs17182463 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=21;  Name=1; Synonyms=Alpha A1, IV; IsoId=P11362-1; Sequence=Displayed; Name=2; Synonyms=Alpha A2; IsoId=P11362-8; Sequence=VSP_009842, VSP_009843; Name=3; Synonyms=Alpha A3; IsoId=P11362-17; Sequence=VSP_009836, VSP_009837; Name=4; Synonyms=Alpha B1; IsoId=P11362-2; Sequence=VSP_002960; Name=5; Synonyms=Alpha B2; IsoId=P11362-9; Sequence=VSP_002960, VSP_009842, VSP_009843; Name=6; Synonyms=Beta A1, II, H2; IsoId=P11362-3; Sequence=VSP_002958; Name=7; Synonyms=Beta A2; IsoId=P11362-10; Sequence=VSP_002958, VSP_009842, VSP_009843; Name=8; Synonyms=Beta B1; IsoId=P11362-4; Sequence=VSP_002958, VSP_002960; Name=9; Synonyms=Beta B2; IsoId=P11362-11; Sequence=VSP_002958, VSP_002960, VSP_009842, VSP_009843; Name=10; Synonyms=Gamma A1; IsoId=P11362-5; Sequence=VSP_002957; Name=11; Synonyms=Gamma A2; IsoId=P11362-12; Sequence=VSP_002957, VSP_009842, VSP_009843; Name=12; Synonyms=Gamma B1; IsoId=P11362-6; Sequence=VSP_002957, VSP_002960; Name=13; Synonyms=Gamma B2; IsoId=P11362-13; Sequence=VSP_002957, VSP_002960, VSP_009842, VSP_009843; Name=14; Synonyms=A, III; IsoId=P11362-7; Sequence=VSP_002959; Name=15; Synonyms=I, H3; IsoId=P11362-14; Sequence=VSP_002958, VSP_002959; Name=16; Synonyms=V; IsoId=P11362-15; Sequence=VSP_009838, VSP_009839; Name=17; Synonyms=H4; IsoId=P11362-16; Sequence=VSP_002958, VSP_009840, VSP_009841; Name=18; Synonyms=H5; IsoId=P11362-18; Sequence=VSP_002958, VSP_002959, VSP_009840, VSP_009841; Name=19; IsoId=P11362-19; Sequence=VSP_038470, VSP_002959, VSP_038471; Name=20; IsoId=P11362-20; Sequence=VSP_041916, VSP_041918; Name=21; IsoId=P11362-21; Sequence=VSP_041917, VSP_002959; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasm, cytosol. Cytoplasmic vesicle. Note=After ligand binding, both receptor and ligand are rapidly internalized. Can translocate to the nucleus after internalization, or by translocation from the endoplasmic reticulum or Golgi apparatus to the cytosol, and from there to the nucleus.


uniprotID: Q96KQ7
geneSymbol: EHMT2
reactome: R-HSA-2559582;R-HSA-3214841;R-HSA-427389;R-HSA-6804760;R-HSA-73762;R-HSA-8953750;
pdb: 2O8J;3DM1;3K5K;3RJW;4NVQ;5JHN;5JIN;5JIY;5JJ0;5T0K;5T0M;5TTF;5TUY;5V9I;5VSC;5VSE;
length: 1210
go: ENSG00000204371;
snps: rs7887 rs13919
name:
Histone-lysine N-methyltransferase EHMT2 (EC 2.1.1.-) (EC 2.1.1.43) (Euchromatic histone-lysine N-methyltransferase 2) (HLA-B-associated transcript 8) (Histone H3-K9 methyltransferase 3) (H3-K9-HMTase 3) (Lysine N-methyltransferase 1C) (Protein G9a)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; C2H2 zinc finger domain binding [GO:0070742]; histone methyltransferase activity (H3-K27 specific) [GO:0046976]; histone methyltransferase activity (H3-K9 specific) [GO:0046974]; histone-lysine N-methyltransferase activity [GO:0018024]; p53 binding [GO:0002039]; promoter-specific chromatin binding [GO:1990841]; protein-lysine N-methyltransferase activity [GO:0016279]; zinc ion binding [GO:0008270]; cellular response to starvation [GO:0009267]; DNA methylation [GO:0006306]; histone lysine methylation [GO:0034968]; histone methylation [GO:0016571]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of transcription by RNA polymerase II [GO:0000122]; peptidyl-lysine dimethylation [GO:0018027]; regulation of DNA replication [GO:0006275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q96KQ7-1; Sequence=Displayed; Name=2; Synonyms=NG36G9a-SPI; IsoId=Q96KQ7-2; Sequence=VSP_002211; Name=3; Synonyms=NG36; IsoId=Q96KQ7-3; Sequence=VSP_002212, VSP_002213; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11316813}. Chromosome {ECO:0000269|PubMed:11316813}. Note=Associates with euchromatic regions. Does not associate with heterochromatin.


uniprotID: Q14232
geneSymbol: EIF2B1
reactome: R-HSA-72731;
pdb: 3ECS;6CAJ;6EZO;
name: Translation initiation factor eIF-2B subunit alpha (eIF-2B GDP-GTP exchange factor subunit alpha)
length: 305
go: ENSG00000111361;
snps: rs863225048 rs113994007
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation initiation factor 2B complex [GO:0005851]; membrane [GO:0016020]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; translation initiation factor activity [GO:0003743]; oligodendrocyte development [GO:0014003]; response to glucose [GO:0009749]; response to heat [GO:0009408]; response to peptide hormone [GO:0043434]; T cell receptor signaling pathway [GO:0050852]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14232-1; Sequence=Displayed; Name=2; IsoId=Q14232-2; Sequence=VSP_055469, VSP_055470; Note=No experimental confirmation available.; 


uniprotID: Q8N6I1
geneSymbol: EID2
length: 236
go: ENSG00000176396;
snps: rs7252027 rs3746086
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14585496}.
name:
EP300-interacting inhibitor of differentiation 2 (EID-2) (CREBBP/EP300 inhibitor 2) (EID-1-like inhibitor of differentiation 2)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SMAD binding [GO:0046332]; cell differentiation [GO:0030154]; muscle organ development [GO:0007517]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; regulation of cell proliferation [GO:0042127]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; SMAD protein complex assembly [GO:0007183]; transforming growth factor beta receptor complex assembly [GO:0007181]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:14585496, ECO:0000269|PubMed:15489334}; IsoId=Q8N6I1-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14702039}; IsoId=Q8N6I1-2; Sequence=VSP_052648; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O60258
geneSymbol: FGF17
name: Fibroblast growth factor 17 (FGF-17)
length: 216
go: ENSG00000158815;
snps: rs398123024 rs398123025 rs398123026
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839122;R-HSA-1839130;R-HSA-190322;R-HSA-190371;R-HSA-190372;R-HSA-190373;R-HSA-190375;R-HSA-2033514;R-HSA-2033519;R-HSA-2219530;R-HSA-5654219;R-HSA-5654221;R-HSA-5654227;R-HSA-5654228;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5655302;R-HSA-5658623;R-HSA-5673001;R-HSA-6811558;R-HSA-8853338;

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; type 1 fibroblast growth factor receptor binding [GO:0005105]; type 2 fibroblast growth factor receptor binding [GO:0005111]; cell-cell signaling [GO:0007267]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; nervous system development [GO:0007399]; positive regulation of cell proliferation [GO:0008284]; positive regulation of protein kinase B signaling [GO:0051897]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60258-1; Sequence=Displayed; Name=2; IsoId=O60258-2; Sequence=VSP_008715; Note=No experimental confirmation available.; 


uniprotID: Q9NSA1
geneSymbol: FGF21
reactome: R-HSA-189200;R-HSA-8963889;
pdb: 5VAQ;
name: Fibroblast growth factor 21 (FGF-21)
length: 209
go: ENSG00000105550;
snps: rs41308776 rs739320
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
cell [GO:0005623]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; cell-cell signaling [GO:0007267]; cellular response to drug [GO:0035690]; cellular response to glucagon stimulus [GO:0071377]; cellular response to glucose stimulus [GO:0071333]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; endoplasmic reticulum unfolded protein response [GO:0030968]; endothelial cell apoptotic process [GO:0072577]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of neuron death [GO:1901215]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of glucose import [GO:0046326]; positive regulation of low-density lipoprotein particle receptor biosynthetic process [GO:0045716]; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway [GO:0090080]; positive regulation of triglyceride catabolic process [GO:0010898]; regulation of low-density lipoprotein particle clearance [GO:0010988]; response to activity [GO:0014823]; response to methionine [GO:1904640]; response to nutrient levels [GO:0031667]; signal transduction [GO:0007165]


uniprotID: P09038
geneSymbol: FGF2
length: 288
go: ENSG00000138685;
drug: DB05434;DB00686;DB00877;DB00364;
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839122;R-HSA-1839130;R-HSA-190322;R-HSA-190370;R-HSA-190372;R-HSA-190373;R-HSA-190375;R-HSA-190377;R-HSA-2033514;R-HSA-2033519;R-HSA-2219530;R-HSA-2892247;R-HSA-3000170;R-HSA-3000171;R-HSA-5654219;R-HSA-5654221;R-HSA-5654227;R-HSA-5654228;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5655302;R-HSA-5658623;R-HSA-5673001;R-HSA-6785807;R-HSA-6811558;R-HSA-8851708;R-HSA-8853338;

pdb:
1BAS;1BFB;1BFC;1BFF;1BFG;1BLA;1BLD;1CVS;1EV2;1FGA;1FQ9;1II4;1IIL;2BFH;2FGF;2M49;4FGF;4OEE;4OEF;4OEG;5X1O;

name:
Fibroblast growth factor 2 (FGF-2) (Basic fibroblast growth factor) (bFGF) (Heparin-binding growth factor 2) (HBGF-2)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; chemoattractant activity [GO:0042056]; cytokine activity [GO:0005125]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; integrin binding [GO:0005178]; nuclear receptor transcription coactivator activity [GO:0030374]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; receptor-receptor interaction [GO:0090722]; activation of MAPK activity [GO:0000187]; animal organ morphogenesis [GO:0009887]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell migration involved in sprouting angiogenesis [GO:0002042]; chemotaxis [GO:0006935]; chondroblast differentiation [GO:0060591]; cytokine-mediated signaling pathway [GO:0019221]; embryonic morphogenesis [GO:0048598]; extracellular matrix organization [GO:0030198]; fibroblast growth factor receptor signaling pathway [GO:0008543]; growth factor dependent regulation of skeletal muscle satellite cell proliferation [GO:0014843]; hyaluronan catabolic process [GO:0030214]; inositol phosphate biosynthetic process [GO:0032958]; MAPK cascade [GO:0000165]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of cell death [GO:0060548]; negative regulation of fibroblast migration [GO:0010764]; negative regulation of wound healing [GO:0061045]; nervous system development [GO:0007399]; paracrine signaling [GO:0038001]; phosphatidylinositol biosynthetic process [GO:0006661]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell division [GO:0051781]; positive regulation of cell fate specification [GO:0042660]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of endothelial cell chemotaxis [GO:2001028]; positive regulation of endothelial cell chemotaxis to fibroblast growth factor [GO:2000546]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of phospholipase C activity [GO:0010863]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of sprouting angiogenesis [GO:1903672]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; Ras protein signal transduction [GO:0007265]; regulation of angiogenesis [GO:0045765]; regulation of endothelial cell chemotaxis to fibroblast growth factor [GO:2000544]; release of sequestered calcium ion into cytosol [GO:0051209]; signal transduction [GO:0007165]; somatic stem cell population maintenance [GO:0035019]; stem cell proliferation [GO:0072089]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=4;  Name=1; IsoId=P09038-4; Sequence=Displayed; Note=Starts at an alternative CUG codon.; Name=2; IsoId=P09038-1; Sequence=VSP_038236, VSP_038237; Note=Starts at an alternative CUG codon.; Name=3; IsoId=P09038-2; Sequence=VSP_037383; Name=4; IsoId=P09038-3; Sequence=VSP_037384, VSP_037385; Note=Starts at an alternative CUG codon.; 

location:
SUBCELLULAR LOCATION: Secreted. Nucleus. Note=Exported from cells by an endoplasmic reticulum (ER)/Golgi-independent mechanism. Unconventional secretion of FGF2 occurs by direct translocation across the plasma membrane. Binding of exogenous FGF2 to FGFR facilitates endocytosis followed by translocation of FGF2 across endosomal membrane into the cytosol. Nuclear import from the cytosol requires the classical nuclear import machinery, involving proteins KPNA1 and KPNB1, as well as CEP57.


uniprotID: P11487
geneSymbol: FGF3
length: 239
go: ENSG00000186895;
snps: rs121917706 rs121917703
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-190370;R-HSA-190377;R-HSA-2033519;R-HSA-2219530;R-HSA-5654219;R-HSA-5654221;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654726;R-HSA-5654727;R-HSA-5655253;R-HSA-5658623;R-HSA-5673001;R-HSA-6811558;

name:
Fibroblast growth factor 3 (FGF-3) (Heparin-binding growth factor 3) (HBGF-3) (Proto-oncogene Int-2)

sequence:

opentargets:
extracellular region [GO:0005576]; intracellular [GO:0005622]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; anatomical structure morphogenesis [GO:0009653]; cell differentiation [GO:0030154]; cell-cell signaling [GO:0007267]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; multicellular organism development [GO:0007275]; negative regulation of cardiac muscle tissue development [GO:0055026]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of protein kinase B signaling [GO:0051897]; signal transduction [GO:0007165]


uniprotID: P08620
geneSymbol: FGF4
pdb: 1IJT;
length: 206
go: ENSG00000075388;
drug: DB00686;DB05309;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839122;R-HSA-1839130;R-HSA-190322;R-HSA-190372;R-HSA-190373;R-HSA-190375;R-HSA-2033514;R-HSA-2033519;R-HSA-2219530;R-HSA-5654219;R-HSA-5654221;R-HSA-5654227;R-HSA-5654228;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5655302;R-HSA-5658623;R-HSA-5673001;R-HSA-6811558;R-HSA-8853338;

name:
Fibroblast growth factor 4 (FGF-4) (Heparin secretory-transforming protein 1) (HST) (HST-1) (HSTF-1) (Heparin-binding growth factor 4) (HBGF-4) (Transforming protein KS3)

sequence:

opentargets:
extracellular region [GO:0005576]; intracellular [GO:0005622]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; apoptotic process involved in morphogenesis [GO:0060561]; cartilage condensation [GO:0001502]; cell-cell signaling [GO:0007267]; cellular response to leukemia inhibitory factor [GO:1990830]; chondroblast differentiation [GO:0060591]; cranial suture morphogenesis [GO:0060363]; embryonic hindlimb morphogenesis [GO:0035116]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; mesenchymal cell proliferation [GO:0010463]; negative regulation of apoptotic process [GO:0043066]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of endothelial cell chemotaxis to fibroblast growth factor [GO:2000544]; signal transduction [GO:0007165]; stem cell population maintenance [GO:0019827]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P08620-1; Sequence=Displayed; Name=2; Synonyms=FGF4si; IsoId=P08620-2; Sequence=VSP_053541; Note=Antagonist of isoform 1, shutting down FGF4-induced Erk1/2 phosphorylation.; 


uniprotID: P10767
geneSymbol: FGF6
length: 208
go: ENSG00000111241;
snps: rs11613495 rs17183529 rs7961645 rs17183778
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839122;R-HSA-190322;R-HSA-190373;R-HSA-190375;R-HSA-2033519;R-HSA-2219530;R-HSA-5654219;R-HSA-5654221;R-HSA-5654228;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654726;R-HSA-5654727;R-HSA-5654733;R-HSA-5655253;R-HSA-5655302;R-HSA-5673001;R-HSA-6811558;

name:
Fibroblast growth factor 6 (FGF-6) (Heparin secretory-transforming protein 2) (HST-2) (HSTF-2) (Heparin-binding growth factor 6) (HBGF-6)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; sarcolemma [GO:0042383]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; angiogenesis [GO:0001525]; cartilage condensation [GO:0001502]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; myoblast differentiation [GO:0045445]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of protein kinase B signaling [GO:0051897]; signal transduction [GO:0007165]


uniprotID: P21781
geneSymbol: FGF7
length: 194
go: ENSG00000140285;
snps: rs34531231 rs17850705
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-190377;R-HSA-2033519;R-HSA-2219530;R-HSA-5654221;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654727;R-HSA-5655253;R-HSA-5673001;R-HSA-6811558;

name:
Fibroblast growth factor 7 (FGF-7) (Heparin-binding growth factor 7) (HBGF-7) (Keratinocyte growth factor)

sequence:
MHKWILTWILPTLLYRSCFHIICLVGTISLACNDMTPEQMATNVNCSSPERHTRSYDYMEGGDIRVRRLFCRTQWYLRIDKRGKVKGTQEMKNNYNIMEIRTVAVGIVAIKGVESEFYLAMNKEGKLYAKKECNEDCNFKELILENHYNTYASAKWTHNGGEMFVALNQKGIPVRGKKTKKEQKTAHFLPMAIT

opentargets:
extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; chemoattractant activity [GO:0042056]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; actin cytoskeleton reorganization [GO:0031532]; branching involved in salivary gland morphogenesis [GO:0060445]; epidermis development [GO:0008544]; fibroblast growth factor receptor signaling pathway [GO:0008543]; hair follicle morphogenesis [GO:0031069]; MAPK cascade [GO:0000165]; mesenchymal cell proliferation [GO:0010463]; positive chemotaxis [GO:0050918]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of epithelial cell proliferation involved in lung morphogenesis [GO:0060501]; positive regulation of keratinocyte migration [GO:0051549]; positive regulation of keratinocyte proliferation [GO:0010838]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of transcription, DNA-templated [GO:0045893]; protein localization to cell surface [GO:0034394]; regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling [GO:0060665]; response to wounding [GO:0009611]; secretion by lung epithelial cell involved in lung growth [GO:0061033]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P21781-1; Sequence=Displayed; Name=2; IsoId=P21781-2; Sequence=VSP_055090; Note=No experimental confirmation available.; 


uniprotID: Q0D2K5
geneSymbol: EGFEM1P
name: Putative EGF-like and EMI domain-containing protein 1
length: 195
snps: rs603638 rs678690
sequence:
MDELRWYHITVCLDHIFGHNCSLSCKDCMNGGKCQEGKSECSCPAGCRVILCNENCLEGAYGAGCTSECQCVEENTLECSAKNGSCTCKSGYQGNRCQKDGLWGPEGWFSSAPCENGGQCNKKTGNCDCTPDYTRKSCTILRCISLTNLALSRRSSPMKYQQNVSSHREVRQRQQCSSDRPFKKLLCKFSFKIGM


uniprotID: P55075
geneSymbol: FGF8
pdb: 2FDB;
length: 233
go: ENSG00000107831;
snps: rs137852659 rs137852660 rs137852661 rs137852662 rs137852663 rs137852664
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839122;R-HSA-1839130;R-HSA-190322;R-HSA-190371;R-HSA-190372;R-HSA-190373;R-HSA-190375;R-HSA-2033514;R-HSA-2033519;R-HSA-2219530;R-HSA-5654219;R-HSA-5654221;R-HSA-5654227;R-HSA-5654228;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5655302;R-HSA-5658623;R-HSA-5673001;R-HSA-6811558;R-HSA-8853338;

name:
Fibroblast growth factor 8 (FGF-8) (Androgen-induced growth factor) (AIGF) (Heparin-binding growth factor 8) (HBGF-8)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; chemoattractant activity [GO:0042056]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; type 1 fibroblast growth factor receptor binding [GO:0005105]; type 2 fibroblast growth factor receptor binding [GO:0005111]; anatomical structure morphogenesis [GO:0009653]; aorta morphogenesis [GO:0035909]; apoptotic process [GO:0006915]; blood vessel remodeling [GO:0001974]; BMP signaling pathway [GO:0030509]; bone development [GO:0060348]; branching involved in blood vessel morphogenesis [GO:0001569]; branching involved in salivary gland morphogenesis [GO:0060445]; branching involved in ureteric bud morphogenesis [GO:0001658]; canonical Wnt signaling pathway [GO:0060070]; cell fate commitment [GO:0045165]; cell migration involved in mesendoderm migration [GO:0090134]; cell proliferation in forebrain [GO:0021846]; corticotropin hormone secreting cell differentiation [GO:0060128]; dopaminergic neuron differentiation [GO:0071542]; dorsal/ventral axon guidance [GO:0033563]; embryonic hindlimb morphogenesis [GO:0035116]; epithelial to mesenchymal transition involved in endocardial cushion formation [GO:0003198]; fibroblast growth factor receptor signaling pathway [GO:0008543]; forebrain dorsal/ventral pattern formation [GO:0021798]; forebrain morphogenesis [GO:0048853]; forebrain neuron development [GO:0021884]; gastrulation [GO:0007369]; gonad development [GO:0008406]; heart looping [GO:0001947]; lung morphogenesis [GO:0060425]; male genitalia development [GO:0030539]; MAPK cascade [GO:0000165]; mesodermal cell migration [GO:0008078]; mesonephros development [GO:0001823]; metanephros development [GO:0001656]; midbrain-hindbrain boundary development [GO:0030917]; motor neuron axon guidance [GO:0008045]; negative regulation of cardiac muscle tissue development [GO:0055026]; negative regulation of neuron apoptotic process [GO:0043524]; neural plate morphogenesis [GO:0001839]; neuroepithelial cell differentiation [GO:0060563]; odontogenesis [GO:0042476]; organ induction [GO:0001759]; otic vesicle formation [GO:0030916]; outflow tract septum morphogenesis [GO:0003148]; pallium development [GO:0021543]; pharyngeal system development [GO:0060037]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of organ growth [GO:0046622]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of odontogenesis of dentin-containing tooth [GO:0042487]; response to drug [GO:0042493]; response to organic cyclic compound [GO:0014070]; response to oxidative stress [GO:0006979]; signal transduction involved in regulation of gene expression [GO:0023019]; subpallium development [GO:0021544]; thyroid gland development [GO:0030878]; thyroid-stimulating hormone-secreting cell differentiation [GO:0060129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=FGF-8E; IsoId=P55075-1; Sequence=Displayed; Name=FGF-8A; IsoId=P55075-2; Sequence=VSP_001525; Name=FGF-8B; IsoId=P55075-3; Sequence=VSP_001524; Name=FGF-8F; IsoId=P55075-4; Sequence=VSP_001526; 


uniprotID: Q06889
geneSymbol: EGR3
name: Early growth response protein 3 (EGR-3) (Zinc finger protein pilot)
length: 387
go: ENSG00000179388;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell migration involved in sprouting angiogenesis [GO:0002042]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to growth factor stimulus [GO:0071363]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; circadian rhythm [GO:0007623]; endothelial cell chemotaxis [GO:0035767]; muscle organ development [GO:0007517]; negative regulation of apoptotic process [GO:0043066]; neuromuscular synaptic transmission [GO:0007274]; peripheral nervous system development [GO:0007422]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of T cell differentiation in thymus [GO:0033089]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of gamma-delta T cell differentiation [GO:0045586]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q06889-1; Sequence=Displayed; Name=2; IsoId=Q06889-2; Sequence=VSP_045954; Note=No experimental confirmation available.; 


uniprotID: Q9UI10
geneSymbol: EIF2B4
reactome: R-HSA-72731;
pdb: 6CAJ;6EZO;
name: Translation initiation factor eIF-2B subunit delta (eIF-2B GDP-GTP exchange factor subunit delta)
length: 523
go: ENSG00000115211;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation initiation factor 2B complex [GO:0005851]; translation initiation factor activity [GO:0003743]; translation initiation factor binding [GO:0031369]; myelination [GO:0042552]; oligodendrocyte development [GO:0014003]; ovarian follicle development [GO:0001541]; regulation of translation [GO:0006417]; response to glucose [GO:0009749]; response to heat [GO:0009408]; response to peptide hormone [GO:0043434]; T cell receptor signaling pathway [GO:0050852]; translational initiation [GO:0006413]

snps:
rs34155621 rs113994028 rs113994027 rs113994031 rs78599355 rs113994033 rs113994035 rs113994038 rs113994040 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UI10-1; Sequence=Displayed; Name=2; IsoId=Q9UI10-2; Sequence=VSP_001433, VSP_040130; Name=3; IsoId=Q9UI10-3; Sequence=VSP_040130; 


uniprotID: Q9H6Z9
geneSymbol: EGLN3
reactome: R-HSA-1234176;
length: 239
go: ENSG00000129521;
drug: DB04847;DB00126;
snps: rs17102002 rs17101995
name:
Egl nine homolog 3 (EC 1.14.11.29) (HPH-1) (Hypoxia-inducible factor prolyl hydroxylase 3) (HIF-PH3) (HIF-prolyl hydroxylase 3) (HPH-3) (Prolyl hydroxylase domain-containing protein 3) (PHD3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; 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]; peptidyl-proline 4-dioxygenase activity [GO:0031545]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; cellular response to DNA damage stimulus [GO:0006974]; peptidyl-proline hydroxylation to 4-hydroxy-L-proline [GO:0018401]; protein hydroxylation [GO:0018126]; regulation of cell proliferation [GO:0042127]; regulation of neuron apoptotic process [GO:0043523]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; response to hypoxia [GO:0001666]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Colocalizes with WDR83 in the cytoplasm. {ECO:0000250}.


uniprotID: A6NFE3
geneSymbol: EFCAB10
name: EF-hand calcium-binding domain-containing protein 10
length: 127
go: ENSG00000185055;
opentargets: calcium ion binding [GO:0005509]
sequence:
METSSRELQAAEYLEKHQIKEVVSYLTSALLFFRPEKPKEYLISLLERLRIAKVTGVAFPFFMDNSNIVAMFEMMDSSGRGTISFVQYKEALKTLGLCTEDEDLQDDGHKITLDKFKEEVNKRMKEI


uniprotID: Q92915
geneSymbol: FGF14
reactome: R-HSA-5576892;
name: Fibroblast growth factor 14 (FGF-14) (Fibroblast growth factor homologous factor 4) (FHF-4)
length: 247
go: ENSG00000102466;
snps: rs141304687 rs104894393
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; intracellular [GO:0005622]; nucleus [GO:0005634]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; cell-cell signaling [GO:0007267]; JNK cascade [GO:0007254]; nervous system development [GO:0007399]; positive regulation of high voltage-gated calcium channel activity [GO:1901843]; regulation of postsynaptic membrane potential [GO:0060078]; regulation of synaptic plasticity [GO:0048167]; regulation of synaptic vesicle recycling [GO:1903421]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92915-1; Sequence=Displayed; Name=2; Synonyms=Isoform 1B; IsoId=Q92915-2; Sequence=VSP_029051; 


uniprotID: O43320
geneSymbol: FGF16
name: Fibroblast growth factor 16 (FGF-16)
length: 207
go: ENSG00000196468;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:O54769}.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839130;R-HSA-190322;R-HSA-190372;R-HSA-190375;R-HSA-2033514;R-HSA-2033519;R-HSA-2219530;R-HSA-5654221;R-HSA-5654227;R-HSA-5654228;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5673001;R-HSA-6811558;R-HSA-8853338;

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; animal organ morphogenesis [GO:0009887]; cell-cell signaling [GO:0007267]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; positive regulation of brown fat cell proliferation [GO:0070349]; positive regulation of endothelial cell chemotaxis to fibroblast growth factor [GO:2000546]; positive regulation of protein kinase B signaling [GO:0051897]; response to temperature stimulus [GO:0009266]; signal transduction [GO:0007165]


uniprotID: P05230
geneSymbol: FGF1
length: 155
go: ENSG00000113578;
drug: DB08238;DB01025;DB01942;DB04409;DB02264;DB06589;DB00686;DB01901;
snps: rs17223632
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839122;R-HSA-1839130;R-HSA-190322;R-HSA-190370;R-HSA-190371;R-HSA-190372;R-HSA-190373;R-HSA-190375;R-HSA-190377;R-HSA-2033514;R-HSA-2033519;R-HSA-2219530;R-HSA-5654219;R-HSA-5654221;R-HSA-5654227;R-HSA-5654228;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5655302;R-HSA-5673001;R-HSA-6811558;R-HSA-8851708;R-HSA-8853338;

pdb:
1AXM;1DJS;1DZC;1DZD;1E0O;1EVT;1HKN;1JQZ;1JT3;1JT4;1JT5;1JT7;1JTC;1JY0;1K5U;1K5V;1M16;1NZK;1P63;1PZZ;1Q03;1Q04;1QCT;1RG8;1RML;1RY7;1YTO;1Z2V;1Z4S;2AFG;2AQZ;2AXM;2ERM;2HW9;2HWA;2HWM;2HZ9;2K43;2K4A;2K8R;2KI4;2KI6;2NTD;2Q9X;2RQ9;3B9U;3BA4;3BA5;3BA7;3BAD;3BAG;3BAH;3BAO;3BAQ;3BAU;3BAV;3BB2;3CQA;3CRG;3CRH;3CRI;3CU1;3FGM;3FJ8;3FJ9;3FJA;3FJB;3FJC;3FJD;3FJE;3FJF;3FJH;3FJI;3FJJ;3FJK;3HOM;3JUT;3K1X;3O3Q;3OJ2;3OJM;3OJV;3UD7;3UD8;3UD9;3UDA;4J23;4Q91;4Q9G;4Q9P;4QAL;4QBC;4QBV;4QC4;4QO3;4XKI;4YOL;

name:
Fibroblast growth factor 1 (FGF-1) (Acidic fibroblast growth factor) (aFGF) (Endothelial cell growth factor) (ECGF) (Heparin-binding growth factor 1) (HBGF-1)

sequence:
MAEGEITTFTALTEKFNLPPGNYKKPKLLYCSNGGHFLRILPDGTVDGTRDRSDQHIQLQLSAESVGEVYIKSTETGQYLAMDTDGLLYGSQTPNEECLFLERLEENHYNTYISKKHAEKNWFVGLKKNGSCKRGPRTHYGQKAILFLPLPVSSD

opentargets:
cell cortex [GO:0005938]; cytosol [GO:0005829]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleolus [GO:0005730]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; Hsp70 protein binding [GO:0030544]; integrin binding [GO:0005178]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; S100 protein binding [GO:0044548]; activation of MAPK activity [GO:0000187]; activation of protein kinase B activity [GO:0032148]; anatomical structure morphogenesis [GO:0009653]; angiogenesis [GO:0001525]; branch elongation involved in ureteric bud branching [GO:0060681]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cellular response to heat [GO:0034605]; fibroblast growth factor receptor signaling pathway [GO:0008543]; lung development [GO:0030324]; MAPK cascade [GO:0000165]; mesonephric epithelium development [GO:0072163]; multicellular organism development [GO:0007275]; organ induction [GO:0001759]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell division [GO:0051781]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cholesterol biosynthetic process [GO:0045542]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of intracellular signal transduction [GO:1902533]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of sprouting angiogenesis [GO:1903672]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of endothelial cell chemotaxis to fibroblast growth factor [GO:2000544]; regulation of endothelial tube morphogenesis [GO:1901509]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P05230-1; Sequence=Displayed; Name=2; IsoId=P05230-2; Sequence=VSP_036536, VSP_036537; 

location:
SUBCELLULAR LOCATION: Secreted. Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytosol. Nucleus. Note=Lacks a cleavable signal sequence. Within the cytoplasm, it is transported to the cell membrane and then secreted by a non-classical pathway that requires Cu(2+) ions and S100A13. Secreted in a complex with SYT1 (By similarity). Binding of exogenous FGF1 to FGFR facilitates endocytosis followed by translocation of FGF1 across endosomal membrane into the cytosol. Nuclear import from the cytosol requires the classical nuclear import machinery, involving proteins KPNA1 and KPNB1, as well as LRRC59. {ECO:0000250}.


uniprotID: Q9NP95
geneSymbol: FGF20
pdb: 3F1R;
name: Fibroblast growth factor 20 (FGF-20)
length: 211
go: ENSG00000078579;
snps: rs3793405 rs10089600 rs17550360
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11306498}.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839122;R-HSA-1839130;R-HSA-190322;R-HSA-190371;R-HSA-190372;R-HSA-190373;R-HSA-190375;R-HSA-2033514;R-HSA-2033519;R-HSA-2219530;R-HSA-5654219;R-HSA-5654221;R-HSA-5654227;R-HSA-5654228;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5655302;R-HSA-5673001;R-HSA-6811558;R-HSA-8853338;

sequence:

opentargets:
extracellular region [GO:0005576]; intracellular [GO:0005622]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; heparan sulfate proteoglycan binding [GO:0043395]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; receptor-receptor interaction [GO:0090722]; signaling receptor binding [GO:0005102]; cell-cell signaling [GO:0007267]; fibroblast growth factor receptor signaling pathway [GO:0008543]; inner ear receptor cell differentiation [GO:0060113]; MAPK cascade [GO:0000165]; negative regulation of neuron apoptotic process [GO:0043524]; positive regulation of cell proliferation [GO:0008284]; positive regulation of dopaminergic neuron differentiation [GO:1904340]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of cardiac muscle cell proliferation [GO:0060043]; regulation of dopamine secretion [GO:0014059]; signal transduction [GO:0007165]


uniprotID: O43812
geneSymbol: DUX1
name: Double homeobox protein 1
length: 170
sequence:
MALLTALDDTLPEEAQGPGRRMILLSTPSQSDALRACFERNLYPGIATKEELAQGIDIPEPRVQIWFQNERSCQLRQHRRQSRPWPGRRDPQKGRRKRTAITGSQTALLLRAFEKDRFPGIAAREELARETGLPESRIQIWFQNRRARHRGQSGRAPTQASIRCNAAPIG

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:15709750, ECO:0000269|PubMed:9736770}. Note=Actively transported through the nuclear pore complex (NPC).


uniprotID: P52799
geneSymbol: EFNB2
reactome: R-HSA-2682334;R-HSA-3928662;R-HSA-3928664;R-HSA-3928665;
pdb: 2HLE;2I85;2VSK;2VSM;2WO2;3GXU;4UF7;
name: Ephrin-B2 (EPH-related receptor tyrosine kinase ligand 5) (LERK-5) (HTK ligand) (HTK-L)
length: 333
go: ENSG00000125266;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; integral component of presynaptic membrane [GO:0099056]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; ephrin receptor binding [GO:0046875]; protein tyrosine kinase activity [GO:0004713]; virus receptor activity [GO:0001618]; anatomical structure morphogenesis [GO:0009653]; animal organ morphogenesis [GO:0009887]; axon guidance [GO:0007411]; blood vessel morphogenesis [GO:0048514]; cell adhesion [GO:0007155]; cell migration involved in sprouting angiogenesis [GO:0002042]; cell-cell signaling [GO:0007267]; ephrin receptor signaling pathway [GO:0048013]; lymph vessel development [GO:0001945]; negative regulation of keratinocyte proliferation [GO:0010839]; negative regulation of neuron projection development [GO:0010977]; nephric duct morphogenesis [GO:0072178]; positive regulation of aorta morphogenesis [GO:1903849]; positive regulation of cardiac muscle cell differentiation [GO:2000727]; positive regulation of cell proliferation [GO:0008284]; positive regulation of neuron death [GO:1901216]; presynapse assembly [GO:0099054]; regulation of chemotaxis [GO:0050920]; regulation of postsynaptic membrane neurotransmitter receptor levels [GO:0099072]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]; T cell costimulation [GO:0031295]; venous blood vessel morphogenesis [GO:0048845]


uniprotID: O15520
geneSymbol: FGF10
pdb: 1NUN;
name: Fibroblast growth factor 10 (FGF-10) (Keratinocyte growth factor 2)
length: 208
go: ENSG00000070193;
snps: rs104893885 rs104893886
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-190370;R-HSA-190377;R-HSA-2033519;R-HSA-210747;R-HSA-2219530;R-HSA-5654219;R-HSA-5654221;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654726;R-HSA-5654727;R-HSA-5655253;R-HSA-5658623;R-HSA-5673001;R-HSA-6811558;

sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; chemoattractant activity [GO:0042056]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; type 2 fibroblast growth factor receptor binding [GO:0005111]; actin cytoskeleton reorganization [GO:0031532]; activation of MAPK activity [GO:0000187]; angiogenesis [GO:0001525]; blood vessel remodeling [GO:0001974]; branch elongation involved in salivary gland morphogenesis [GO:0060667]; branching morphogenesis of an epithelial tube [GO:0048754]; bronchiole morphogenesis [GO:0060436]; bud elongation involved in lung branching [GO:0060449]; bud outgrowth involved in lung branching [GO:0060447]; determination of left/right symmetry [GO:0007368]; embryonic camera-type eye development [GO:0031076]; embryonic digestive tract morphogenesis [GO:0048557]; embryonic genitalia morphogenesis [GO:0030538]; embryonic pattern specification [GO:0009880]; epithelial cell migration [GO:0010631]; epithelial cell proliferation [GO:0050673]; epithelial cell proliferation involved in salivary gland morphogenesis [GO:0060664]; ERK1 and ERK2 cascade [GO:0070371]; establishment of mitotic spindle orientation [GO:0000132]; female genitalia morphogenesis [GO:0048807]; fibroblast growth factor receptor signaling pathway [GO:0008543]; fibroblast growth factor receptor signaling pathway involved in mammary gland specification [GO:0060595]; hair follicle morphogenesis [GO:0031069]; Harderian gland development [GO:0070384]; induction of positive chemotaxis [GO:0050930]; keratinocyte proliferation [GO:0043616]; lacrimal gland development [GO:0032808]; limb bud formation [GO:0060174]; lung epithelium development [GO:0060428]; lung proximal/distal axis specification [GO:0061115]; lung saccule development [GO:0060430]; male genitalia morphogenesis [GO:0048808]; mammary gland bud formation [GO:0060615]; MAPK cascade [GO:0000165]; mesenchymal cell differentiation involved in lung development [GO:0060915]; mesenchymal-epithelial cell signaling involved in lung development [GO:0060496]; mesonephros development [GO:0001823]; metanephros development [GO:0001656]; metanephros morphogenesis [GO:0003338]; muscle cell fate commitment [GO:0042693]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of cell differentiation [GO:0045596]; negative regulation of cell proliferation [GO:0008285]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; odontogenesis of dentin-containing tooth [GO:0042475]; organ induction [GO:0001759]; otic vesicle formation [GO:0030916]; pancreas development [GO:0031016]; pituitary gland development [GO:0021983]; positive chemotaxis [GO:0050918]; positive regulation of ATPase activity [GO:0032781]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of DNA repair [GO:0045739]; positive regulation of DNA replication [GO:0045740]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of epithelial cell proliferation involved in wound healing [GO:0060054]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of hair follicle cell proliferation [GO:0071338]; positive regulation of keratinocyte migration [GO:0051549]; positive regulation of keratinocyte proliferation [GO:0010838]; positive regulation of lymphocyte proliferation [GO:0050671]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of Ras protein signal transduction [GO:0046579]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of urothelial cell proliferation [GO:0050677]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; positive regulation of white fat cell proliferation [GO:0070352]; prostatic bud formation [GO:0060513]; protein localization to cell surface [GO:0034394]; radial glial cell differentiation [GO:0060019]; regulation of activin receptor signaling pathway [GO:0032925]; regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling [GO:0060665]; regulation of saliva secretion [GO:0046877]; regulation of smoothened signaling pathway [GO:0008589]; response to estradiol [GO:0032355]; response to lipopolysaccharide [GO:0032496]; salivary gland development [GO:0007431]; secretion by lung epithelial cell involved in lung growth [GO:0061033]; semicircular canal fusion [GO:0060879]; smooth muscle cell differentiation [GO:0051145]; somatic stem cell population maintenance [GO:0035019]; spleen development [GO:0048536]; submandibular salivary gland formation [GO:0060661]; tear secretion [GO:0070075]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]; tissue regeneration [GO:0042246]; type II pneumocyte differentiation [GO:0060510]; urothelial cell proliferation [GO:0050674]; white fat cell differentiation [GO:0050872]; wound healing [GO:0042060]


uniprotID: Q92914
geneSymbol: FGF11
reactome: R-HSA-5576892;
name: Fibroblast growth factor 11 (FGF-11) (Fibroblast growth factor homologous factor 3) (FHF-3)
length: 225
go: ENSG00000161958;
sequence:

opentargets:
extracellular region [GO:0005576]; growth factor activity [GO:0008083]; cell-cell signaling [GO:0007267]; nervous system development [GO:0007399]; signal transduction [GO:0007165]


uniprotID: Q86SJ2
geneSymbol: AMIGO2
length: 522
go: ENSG00000139211;
name:
Amphoterin-induced protein 2 (AMIGO-2) (Alivin-1) (Differentially expressed in gastric adenocarcinomas) (DEGA)

sequence:

opentargets:
integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; negative regulation of apoptotic process [GO:0043066]; negative regulation of programmed cell death [GO:0043069]; positive regulation of synapse assembly [GO:0051965]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Nucleus {ECO:0000250}. Note=Associated with nucleus as well as plasma membrane. Restricted to somata of cerebellar as well as hippocampal neurons (By similarity). {ECO:0000250}.


uniprotID: Q9Y2J4
geneSymbol: AMOTL2
reactome: R-HSA-2028269;
name: Angiomotin-like protein 2 (Leman coiled-coil protein) (LCCP)
length: 779
go: ENSG00000114019;
snps: rs35377537 rs2303635 rs2241559 rs1353776
location: SUBCELLULAR LOCATION: Recycling endosome {ECO:0000250}.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; recycling endosome [GO:0055037]; identical protein binding [GO:0042802]; actin cytoskeleton organization [GO:0030036]; establishment of cell polarity involved in ameboidal cell migration [GO:0003365]; hippo signaling [GO:0035329]; regulation of cell migration [GO:0030334]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y2J4-1; Sequence=Displayed; Name=2; IsoId=Q9Y2J4-2; Sequence=VSP_015711; Name=3; IsoId=Q9Y2J4-3; Sequence=VSP_037826; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y2J4-4; Sequence=VSP_044081; Note=No experimental confirmation available.; 


uniprotID: Q8IY45
geneSymbol: AMN1
name: Protein AMN1 homolog
length: 258
go: ENSG00000151743;
sequence:

opentargets:
SCF ubiquitin ligase complex [GO:0019005]; protein ubiquitination [GO:0016567]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IY45-1; Sequence=Displayed; Name=2; IsoId=Q8IY45-2; Sequence=VSP_054567; Note=No experimental confirmation available.; 


uniprotID: Q96LW7
geneSymbol: CARD19
pdb: 4DWN;4FH0;
name: Caspase recruitment domain-containing protein 19 (Bcl10-interacting CARD protein) (BinCARD)
length: 228
go: ENSG00000165233;
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; CARD domain binding [GO:0050700]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96LW7-1; Sequence=Displayed; Name=2; IsoId=Q96LW7-2; Sequence=VSP_014723; Note=Appears to be the dominant isoform in peripheral blood cell fractions. Contains a transmembrane helix. {ECO:0000244|PubMed:24275569}; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:23633586}. Note=Coexpression with BCL10 induced translocation from nucleus to cytosol.; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23633586}; Single-pass membrane protein {ECO:0000269|PubMed:23633586}. Mitochondrion membrane {ECO:0000269|PubMed:23633586}; Single-pass membrane protein {ECO:0000269|PubMed:23633586}.


uniprotID: P30533
geneSymbol: LRPAP1
pdb: 1LRE;1NRE;1OP1;1OV2;2FCW;2FTU;2FYL;2P01;2P03;
length: 357
go: ENSG00000163956;
snps: rs2228158 rs1800493
name:
Alpha-2-macroglobulin receptor-associated protein (Alpha-2-MRAP) (Low density lipoprotein receptor-related protein-associated protein 1) (RAP)

sequence:

opentargets:
cell surface [GO:0009986]; cis-Golgi network [GO:0005801]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endosome [GO:0005768]; endosome lumen [GO:0031904]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; Golgi lumen [GO:0005796]; plasma membrane [GO:0005886]; rough endoplasmic reticulum lumen [GO:0048237]; amyloid-beta binding [GO:0001540]; heparin binding [GO:0008201]; lipase binding [GO:0035473]; low-density lipoprotein particle receptor binding [GO:0050750]; receptor antagonist activity [GO:0048019]; signaling receptor binding [GO:0005102]; very-low-density lipoprotein particle receptor binding [GO:0070326]; extracellular negative regulation of signal transduction [GO:1900116]; negative regulation of amyloid-beta clearance [GO:1900222]; negative regulation of cell death [GO:0060548]; negative regulation of protein binding [GO:0032091]; negative regulation of receptor internalization [GO:0002091]; negative regulation of very-low-density lipoprotein particle clearance [GO:0010916]; positive regulation of amyloid-beta clearance [GO:1900223]; regulation of receptor-mediated endocytosis [GO:0048259]; transcytosis [GO:0045056]

location:
SUBCELLULAR LOCATION: Rough endoplasmic reticulum lumen {ECO:0000269|PubMed:7774585}. Endoplasmic reticulum-Golgi intermediate compartment lumen {ECO:0000269|PubMed:7774585}. Golgi apparatus, cis-Golgi network {ECO:0000269|PubMed:7774585}. Golgi apparatus lumen {ECO:0000269|PubMed:7774585}. Endosome lumen {ECO:0000269|PubMed:7774585}. Cell surface {ECO:0000269|PubMed:11384978}. Note=May be associated with receptors at the cell surface. {ECO:0000269|PubMed:11384978}.


uniprotID: O43423
geneSymbol: ANP32C
length: 234
snps: rs2288674 rs2288675 rs17008716 rs2288676
name:
Acidic leucine-rich nuclear phosphoprotein 32 family member C (Phosphoprotein 32-related protein 1) (Tumorigenic protein pp32r1)

sequence:

opentargets:
nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; histone binding [GO:0042393]; nucleocytoplasmic transport [GO:0006913]


uniprotID: Q6Q4G3
geneSymbol: LVRN
name: Aminopeptidase Q (AP-Q) (APQ) (EC 3.4.11.-) (CHL2 antigen) (Laeverin)
length: 990
go: ENSG00000172901;
snps: rs17138632 rs10078759 rs17138681
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; metalloaminopeptidase activity [GO:0070006]; peptide binding [GO:0042277]; zinc ion binding [GO:0008270]; peptide catabolic process [GO:0043171]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6Q4G3-1; Sequence=Displayed; Name=2; IsoId=Q6Q4G3-2; Sequence=VSP_019919, VSP_019920; Note=No experimental confirmation available.; Name=3; IsoId=Q6Q4G3-3; Sequence=VSP_019915, VSP_019918, VSP_019921; 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=Q6Q4G3-4; Sequence=VSP_019915, VSP_019916, VSP_019917; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000303|PubMed:17525158}; Single-pass type II membrane protein {ECO:0000303|PubMed:17525158}.


uniprotID: O95841
geneSymbol: ANGPTL1
name: Angiopoietin-related protein 1 (Angiopoietin-3) (ANG-3) (Angiopoietin-like protein 1)
length: 491
go: ENSG00000116194;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10025962}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; signaling receptor binding [GO:0005102]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]


uniprotID: P55345
geneSymbol: PRMT2
pdb: 1X2P;
name: Protein arginine N-methyltransferase 2 (EC 2.1.1.319) (Histone-arginine N-methyltransferase PRMT2)
length: 433
go: ENSG00000160310;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; androgen receptor binding [GO:0050681]; estrogen receptor binding [GO:0030331]; histone methyltransferase activity [GO:0042054]; histone-arginine N-methyltransferase activity [GO:0008469]; peroxisome proliferator activated receptor binding [GO:0042975]; progesterone receptor binding [GO:0033142]; protein homodimerization activity [GO:0042803]; protein-arginine N-methyltransferase activity [GO:0016274]; protein-arginine omega-N asymmetric methyltransferase activity [GO:0035242]; protein-containing complex binding [GO:0044877]; retinoic acid receptor binding [GO:0042974]; thyroid hormone receptor binding [GO:0046966]; transcription coactivator activity [GO:0003713]; developmental cell growth [GO:0048588]; histone arginine methylation [GO:0034969]; histone methylation [GO:0016571]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of transcription, DNA-templated [GO:0045892]; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine [GO:0019919]; positive regulation of apoptotic process [GO:0043065]; positive regulation of transcription, DNA-templated [GO:0045893]; protein methylation [GO:0006479]; regulation of androgen receptor signaling pathway [GO:0060765]; regulation of transcription, DNA-templated [GO:0006355]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=P55345-1; Sequence=Displayed; Name=2; IsoId=P55345-2; Sequence=VSP_042680; Note=No experimental confirmation available.; Name=3; IsoId=P55345-3; Sequence=VSP_043381; Note=No experimental confirmation available.; Name=PRMT2Alpha; IsoId=P55345-4; Sequence=VSP_054930, VSP_054931; Note=Higher expression in breast cancer tissues.; Name=PRMT2Beta; IsoId=P55345-5; Sequence=VSP_054928, VSP_054932; Note=Higher expression in breast cancer tissues. Doesn't interact with ESR1.; Name=PRMT2Gamma; IsoId=P55345-6; Sequence=VSP_054927; Note=Higher expression in breast cancer tissues.; Name=PRMT2L2; IsoId=P55345-7; Sequence=VSP_054929; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Nucleus. Note=Translocates from the cytoplasm to the nucleus, after hormone exposure. Excluded from nucleolus.; SUBCELLULAR LOCATION: Isoform PRMT2Alpha: Nucleus. Note=Excluded from nucleolus.; SUBCELLULAR LOCATION: Isoform PRMT2Beta: Cytoplasm. Nucleus. Nucleus, nucleolus.; SUBCELLULAR LOCATION: Isoform PRMT2Gamma: Nucleus. Note=Excluded from nucleolus.; SUBCELLULAR LOCATION: Isoform PRMT2L2: Cytoplasm {ECO:0000269|PubMed:21820040}. Nucleus {ECO:0000269|PubMed:21820040}. Note=Predominantly cytoplasmic.


uniprotID: Q6P2P2
geneSymbol: PRMT9
name: Protein arginine N-methyltransferase 9 (Protein arginine N-methyltransferase 10) (EC 2.1.1.320)
length: 845
go: ENSG00000164169;
snps: rs17023638 rs11557361
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25737013, ECO:0000269|PubMed:25979344}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; histone-arginine N-methyltransferase activity [GO:0008469]; protein-arginine N-methyltransferase activity [GO:0016274]; protein-arginine omega-N asymmetric methyltransferase activity [GO:0035242]; protein-arginine omega-N monomethyltransferase activity [GO:0035241]; protein-arginine omega-N symmetric methyltransferase activity [GO:0035243]; histone arginine methylation [GO:0034969]; mRNA processing [GO:0006397]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P2P2-1; Sequence=Displayed; Name=2; IsoId=Q6P2P2-2; Sequence=VSP_053972; 


uniprotID: Q9NW15
geneSymbol: ANO10
reactome: R-HSA-2672351;
pdb: 5OC9;
name: Anoctamin-10 (Transmembrane protein 16K)
length: 660
go: ENSG00000160746;
snps: rs3772165 rs387907089 rs17409162 rs17853862
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium activated cation channel activity [GO:0005227]; intracellular calcium activated chloride channel activity [GO:0005229]; cation transport [GO:0006812]; chloride transport [GO:0006821]; ion transmembrane transport [GO:0034220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9NW15-1; Sequence=Displayed; Name=2; IsoId=Q9NW15-2; Sequence=VSP_026033; Note=No experimental confirmation available.; Name=3; IsoId=Q9NW15-3; Sequence=VSP_038212; Note=No experimental confirmation available.; Name=4; IsoId=Q9NW15-4; Sequence=VSP_038211; Note=No experimental confirmation available.; Name=5; IsoId=Q9NW15-5; Sequence=VSP_045885; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22075693, ECO:0000269|PubMed:22946059}; Multi-pass membrane protein {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22075693, ECO:0000269|PubMed:22946059}. Note=Shows predominantly an intracellular localization with a weak expression in the cell membrane.


uniprotID: O43827
geneSymbol: ANGPTL7
length: 346
go: ENSG00000171819;
opentargets: extracellular region [GO:0005576]; response to oxidative stress [GO:0006979]
snps: rs28990992 rs28991002 rs28991009
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Angiopoietin-related protein 7 (Angiopoietin-like factor) (Angiopoietin-like protein 7) (Cornea-derived transcript 6 protein)

sequence:


uniprotID: Q7Z5J8
geneSymbol: ANKAR
name: Ankyrin and armadillo repeat-containing protein
length: 1434
go: ENSG00000151687;
opentargets: integral component of membrane [GO:0016021]
snps: rs16831887 rs1225090
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=FLJ25415-2P; IsoId=Q7Z5J8-1; Sequence=Displayed; Name=2; IsoId=Q7Z5J8-2; Sequence=VSP_025173, VSP_025174; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z5J8-3; Sequence=VSP_025167, VSP_025170, VSP_025171, VSP_025172; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z5J8-4; Sequence=VSP_025166, VSP_025168, VSP_025169; Note=No experimental confirmation available.; 


uniprotID: Q9UNK9
geneSymbol: ANGEL1
name: Protein angel homolog 1
length: 670
go: ENSG00000013523;
snps: rs34270005 rs45499197 rs2075773
sequence:

opentargets:
cis-Golgi network [GO:0005801]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; eukaryotic initiation factor 4E binding [GO:0008190]; protein domain specific binding [GO:0019904]


uniprotID: Q8NEN0
geneSymbol: ARMC2
name: Armadillo repeat-containing protein 2
length: 867
go: ENSG00000118690;
snps: rs9386758 rs17852775
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NEN0-1; Sequence=Displayed; Name=2; IsoId=Q8NEN0-2; Sequence=VSP_055622; Note=No experimental confirmation available.; 


uniprotID: Q5T2S8
geneSymbol: ARMC4
name: Armadillo repeat-containing protein 4
length: 1044
go: ENSG00000169126;
snps: rs4405206 rs587777047 rs35181927 rs3737184
sequence:

opentargets:
axoneme [GO:0005930]; ciliary base [GO:0097546]; cilium movement [GO:0003341]; determination of left/right symmetry [GO:0007368]; heart development [GO:0007507]; outer dynein arm assembly [GO:0036158]; regulation of cilium beat frequency [GO:0003356]; ventricular system development [GO:0021591]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T2S8-1; Sequence=Displayed; Name=2; IsoId=Q5T2S8-2; Sequence=VSP_056695, VSP_056696; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:23849778}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:23849778}.


uniprotID: Q8N2F6
geneSymbol: ARMC10
name: Armadillo repeat-containing protein 10 (Splicing variant involved in hepatocarcinogenesis protein)
length: 343
go: ENSG00000170632;
snps: rs17849774
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; DBD domain binding [GO:0050692]; p53 binding [GO:0002039]; negative regulation of apoptotic process [GO:0043066]; negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator [GO:1902254]; positive regulation of growth rate [GO:0040010]; regulation of growth [GO:0040008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=SVH-A; IsoId=Q8N2F6-1; Sequence=Displayed; Name=2; Synonyms=SVH-B; IsoId=Q8N2F6-2; Sequence=VSP_027361; Name=3; Synonyms=SVH-C; IsoId=Q8N2F6-3; Sequence=VSP_027362; Name=4; Synonyms=SVH-D; IsoId=Q8N2F6-4; Sequence=VSP_027361, VSP_027362; Name=5; IsoId=Q8N2F6-5; Sequence=VSP_027361, VSP_043290; Note=No experimental confirmation available. {ECO:0000244|PubMed:18318008, ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:19690332, ECO:0000244|PubMed:21406692, ECO:0000244|PubMed:24275569}; Name=6; IsoId=Q8N2F6-6; Sequence=VSP_027361, VSP_047404; Note=Gene prediction based on EST data. {ECO:0000244|PubMed:18318008, ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:19690332, ECO:0000244|PubMed:21406692, ECO:0000244|PubMed:24275569}; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12839973}; Single-pass membrane protein {ECO:0000269|PubMed:12839973}.


uniprotID: Q5T9G4
geneSymbol: ARMC12
name: Armadillo repeat-containing protein 12
length: 340
go: ENSG00000157343;
opentargets: nucleus [GO:0005634]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T9G4-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5T9G4-2; Sequence=VSP_017800; Note=No experimental confirmation available.; Name=3; IsoId=Q5T9G4-3; Sequence=VSP_017801; 


uniprotID: P0C7Q2
geneSymbol: ARMS2
name: Age-related maculopathy susceptibility protein 2
length: 107
go: ENSG00000254636;
snps: rs10490923 rs10490924
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16174643, ECO:0000269|PubMed:19255159}.
sequence:
MLRLYPGPMVTEAEGKGGPEMASLSSSVVPVSFISTLRESVLDPGVGGEGASDKQRSKLSLSHSMIPAAKIHTELCLPAFFSPAGTQRRFQQPQHHLTLSIIHTAAR

opentargets:
mitochondrion [GO:0005739]; photoreceptor inner segment [GO:0001917]; retina homeostasis [GO:0001895]


uniprotID: Q6PIY5
geneSymbol: ARMH1
name: Armadillo-like helical domain containing protein 1 (p40)
length: 440
go: ENSG00000198520;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PIY5-1; Sequence=Displayed; Name=2; IsoId=Q6PIY5-2; Sequence=VSP_031683; Note=No experimental confirmation available.; 


uniprotID: H3BNL8
geneSymbol: ARMH2
name: Armadillo-like helical domain-containing protein 2
length: 230
sequence:


uniprotID: Q5T2E6
geneSymbol: ARMH3
name: Armadillo-like helical domain-containing protein 3
length: 689
go: ENSG00000120029;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T2E6-1; Sequence=Displayed; Name=2; IsoId=Q5T2E6-2; Sequence=VSP_024552; Name=3; IsoId=Q5T2E6-3; Sequence=VSP_024552, VSP_024553, VSP_024554; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9P291
geneSymbol: ARMCX1
length: 453
go: ENSG00000126947;
opentargets: integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]
name:
Armadillo repeat-containing X-linked protein 1 (ARM protein lost in epithelial cancers on chromosome X 1) (Protein ALEX1)

sequence:

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q9CX83}. Mitochondrion outer membrane {ECO:0000250|UniProtKB:Q9CX83}; Single-pass membrane protein {ECO:0000255}.


uniprotID: Q7L311
geneSymbol: ARMCX2
length: 632
go: ENSG00000184867;
opentargets: integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]
name:
Armadillo repeat-containing X-linked protein 2 (ARM protein lost in epithelial cancers on chromosome X 2) (Protein ALEX2)

sequence:

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q6A058}. Mitochondrion outer membrane {ECO:0000250|UniProtKB:Q8BHS6}; Single-pass membrane protein {ECO:0000255}.


uniprotID: Q5H9R4
geneSymbol: ARMCX4
name: Armadillo repeat-containing X-linked protein 4
length: 360
go: ENSG00000196440;
opentargets: integral component of membrane [GO:0016021]
snps: rs5951332
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5H9R4-1; Sequence=Displayed; Name=2; IsoId=Q5H9R4-2; Sequence=VSP_016747; Note=No experimental confirmation available.; 


uniprotID: Q6P1M9
geneSymbol: ARMCX5
name: Armadillo repeat-containing X-linked protein 5
length: 558
go: ENSG00000125962;
sequence:


uniprotID: Q8IUK8
geneSymbol: CBLN2
name: Cerebellin-2
length: 224
go: ENSG00000141668;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; positive regulation of synapse assembly [GO:0051965]; regulation of presynapse assembly [GO:1905606]


uniprotID: Q9UI42
geneSymbol: CPA4
pdb: 2BO9;2BOA;2PCU;4A94;4BD9;
name: Carboxypeptidase A4 (EC 3.4.17.-) (Carboxypeptidase A3)
length: 421
go: ENSG00000128510;
snps: rs34587586 rs3735051 rs3735053 rs2171492
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; histone acetylation [GO:0016573]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UI42-1; Sequence=Displayed; Name=2; IsoId=Q9UI42-2; Sequence=VSP_042894; Note=No experimental confirmation available.; 


uniprotID: Q8WXQ8
geneSymbol: CPA5
name: Carboxypeptidase A5 (EC 3.4.17.-)
length: 436
go: ENSG00000158525;
snps: rs17388190 rs11761888 rs17854248 rs11765961
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WXQ8-1; Sequence=Displayed; Name=2; IsoId=Q8WXQ8-2; Sequence=VSP_008806, VSP_008807; Note=No experimental confirmation available.; Name=3; IsoId=Q8WXQ8-3; Sequence=VSP_044866; Note=No experimental confirmation available.; 


uniprotID: P15086
geneSymbol: CPB1
reactome: R-HSA-2022377;
pdb: 1KWM;1ZLI;
name: Carboxypeptidase B (EC 3.4.17.2) (Pancreas-specific protein) (PASP)
length: 417
go: ENSG00000153002;
drug: DB07182;DB07269;DB06921;DB07136;DB06835;DB04723;DB04272;
snps: rs1059502
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:P00732}.
sequence:

opentargets:
extracellular space [GO:0005615]; carboxypeptidase activity [GO:0004180]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; proteolysis [GO:0006508]


uniprotID: Q96MI9
geneSymbol: AGBL1
reactome: R-HSA-8955332;
name: Cytosolic carboxypeptidase 4 (EC 3.4.17.-) (ATP/GTP-binding protein-like 1)
length: 1066
go: ENSG00000273540;
snps: rs8029810 rs11857527 rs181958589 rs8028043
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:24094747}.
sequence:

opentargets:
cytosol [GO:0005829]; metallocarboxypeptidase activity [GO:0004181]; tubulin binding [GO:0015631]; zinc ion binding [GO:0008270]; C-terminal protein deglutamylation [GO:0035609]; protein side chain deglutamylation [GO:0035610]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96MI9-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96MI9-2; Sequence=VSP_028176; Note=No experimental confirmation available.; Name=3; IsoId=Q96MI9-3; Sequence=VSP_028177, VSP_028178; Note=No experimental confirmation available.; 


uniprotID: Q5VU57
geneSymbol: AGBL4
reactome: R-HSA-8955332;
name: Cytosolic carboxypeptidase 6 (EC 3.4.17.-) (ATP/GTP-binding protein-like 4)
length: 503
go: ENSG00000186094;
snps: rs60977321
sequence:

opentargets:
centriole [GO:0005814]; ciliary basal body [GO:0036064]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; metallocarboxypeptidase activity [GO:0004181]; tubulin binding [GO:0015631]; zinc ion binding [GO:0008270]; C-terminal protein deglutamylation [GO:0035609]; defense response to virus [GO:0051607]; protein deglutamylation [GO:0035608]; protein side chain deglutamylation [GO:0035610]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VU57-1; Sequence=Displayed; Name=2; IsoId=Q5VU57-2; Sequence=VSP_040435, VSP_040436; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q09LZ8}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:23085998}. Golgi apparatus {ECO:0000269|PubMed:23085998}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:23085998}. Note=Colocalizes with gamma-tubulin in the centrioles at interphase and dividing cells and with glutamylated tubulin in basal bodies of ciliated cells. {ECO:0000269|PubMed:23085998}.


uniprotID: O75976
geneSymbol: CPD
reactome: R-HSA-432722;
pdb: 5AQ0;
name: Carboxypeptidase D (EC 3.4.17.22) (Metallocarboxypeptidase D) (gp180)
length: 1380
go: ENSG00000108582;
drug: DB04489;
snps: rs17857300 rs17857301 rs17854355 rs1860543
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; metallocarboxypeptidase activity [GO:0004181]; serine-type carboxypeptidase activity [GO:0004185]; zinc ion binding [GO:0008270]; peptide metabolic process [GO:0006518]; protein processing [GO:0016485]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75976-1; Sequence=Displayed; Name=2; IsoId=O75976-2; Sequence=VSP_045833, VSP_045834; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q90240}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: Q9HBZ2
geneSymbol: ARNT2
reactome: R-HSA-1989781;R-HSA-211945;R-HSA-211976;R-HSA-211981;R-HSA-8937144;
length: 717
go: ENSG00000172379;
snps: rs140468271 rs371290912 rs141193900 rs150964641 rs4072568
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:24465693}.
name:
Aryl hydrocarbon receptor nuclear translocator 2 (ARNT protein 2) (Class E basic helix-loop-helix protein 1) (bHLHe1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; aryl hydrocarbon receptor binding [GO:0017162]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; brain development [GO:0007420]; central nervous system development [GO:0007417]; in utero embryonic development [GO:0001701]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription, DNA-templated [GO:0006355]; response to estradiol [GO:0032355]; response to hypoxia [GO:0001666]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HBZ2-1; Sequence=Displayed; Name=2; IsoId=Q9HBZ2-2; Sequence=VSP_022687; 


uniprotID: P16870
geneSymbol: CPE
reactome: R-HSA-264876;
length: 476
go: ENSG00000109472;
drug: DB00030;DB00071;
snps: rs34516004 rs541147146
name:
Carboxypeptidase E (CPE) (EC 3.4.17.10) (Carboxypeptidase H) (CPH) (Enkephalin convertase) (Prohormone-processing carboxypeptidase)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; secretory granule [GO:0030141]; synaptic membrane [GO:0097060]; transport vesicle membrane [GO:0030658]; carboxypeptidase activity [GO:0004180]; cell adhesion molecule binding [GO:0050839]; metallocarboxypeptidase activity [GO:0004181]; neurexin family protein binding [GO:0042043]; zinc ion binding [GO:0008270]; cardiac left ventricle morphogenesis [GO:0003214]; cellular protein modification process [GO:0006464]; insulin processing [GO:0030070]; neuropeptide signaling pathway [GO:0007218]; peptide metabolic process [GO:0006518]; protein localization to membrane [GO:0072657]; protein processing [GO:0016485]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P16870-1; Sequence=Displayed; Name=2; Synonyms=CPE delta-N; IsoId=P16870-2; Sequence=VSP_040959; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:P15087}; Peripheral membrane protein {ECO:0000250|UniProtKB:P15087}. Secreted {ECO:0000250|UniProtKB:P15087}. Note=Associated with the secretory granule membrane through direct binding to lipid rafts in intragranular conditions. {ECO:0000250|UniProtKB:P15087}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:21285511}.


uniprotID: P83916
geneSymbol: CBX1
pdb: 2FMM;3F2U;3Q6S;5T1G;
length: 185
go: ENSG00000108468;
name:
Chromobox protein homolog 1 (HP1Hsbeta) (Heterochromatin protein 1 homolog beta) (HP1 beta) (Heterochromatin protein p25) (M31) (Modifier 1 protein) (p25beta)

sequence:
MGKKQNKKKVEEVLEEEEEEYVVEKVLDRRVVKGKVEYLLKWKGFSDEDNTWEPEENLDCPDLIAEFLQSQKTAHETDKSEGGKRKADSDSEDKGEESKPKKKKEESEKPRGFARGLEPERIIGATDSSGELMFLMKWKNSDEADLVPAKEANVKCPQVVISFYEERLTWHSYPSEDDDKKDDKN

opentargets:
chromatin [GO:0000785]; chromocenter [GO:0010369]; chromosome, centromeric region [GO:0000775]; female pronucleus [GO:0001939]; male pronucleus [GO:0001940]; nuclear chromosome, telomeric region [GO:0000784]; nuclear heterochromatin [GO:0005720]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; site of DNA damage [GO:0090734]; spindle [GO:0005819]; chromatin binding [GO:0003682]; enzyme binding [GO:0019899]; histone methyltransferase binding [GO:1990226]; protein homodimerization activity [GO:0042803]; cellular response to DNA damage stimulus [GO:0006974]; negative regulation of transcription, DNA-templated [GO:0045892]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10460410, ECO:0000269|PubMed:9169582}. Note=Unassociated with chromosomes during mitosis.


uniprotID: P27540
geneSymbol: ARNT
reactome: R-HSA-1234158;R-HSA-1989781;R-HSA-211945;R-HSA-211976;R-HSA-211981;R-HSA-8937144;
length: 789
go: ENSG00000143437;
snps: rs2229175 rs1805133 rs10305741 rs2275237
location: SUBCELLULAR LOCATION: Nucleus.
pdb:
1D7G;1X0O;2A24;2ARN;2B02;2HV1;2K7S;3F1N;3F1O;3F1P;3H7W;3H82;4EQ1;4GHI;4GS9;4H6J;4LPZ;4PKY;4XT2;5TBM;5UFP;5V0L;

name:
Aryl hydrocarbon receptor nuclear translocator (ARNT protein) (Class E basic helix-loop-helix protein 2) (bHLHe2) (Dioxin receptor, nuclear translocator) (Hypoxia-inducible factor 1-beta) (HIF-1-beta) (HIF1-beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; aryl hydrocarbon receptor activity [GO:0004874]; aryl hydrocarbon receptor binding [GO:0017162]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer binding [GO:0035326]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; cell differentiation [GO:0030154]; embryonic placenta development [GO:0001892]; mRNA transcription by RNA polymerase II [GO:0042789]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of glycolytic process [GO:0045821]; positive regulation of hormone biosynthetic process [GO:0046886]; positive regulation of protein sumoylation [GO:0033235]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular endothelial growth factor production [GO:0010575]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; regulation of transcription from RNA polymerase II promoter in response to oxidative stress [GO:0043619]; response to hypoxia [GO:0001666]; transcription, DNA-templated [GO:0006351]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long; IsoId=P27540-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P27540-2; Sequence=VSP_002092; Name=3; IsoId=P27540-3; Sequence=VSP_036532, VSP_036533; Note=No experimental confirmation available.; Name=4; IsoId=P27540-4; Sequence=VSP_055030; 


uniprotID: O00257
geneSymbol: CBX4
pdb: 2K28;3I8Z;5EPL;
length: 560
go: ENSG00000141582;
name:
E3 SUMO-protein ligase CBX4 (EC 2.3.2.-) (Chromobox protein homolog 4) (Polycomb 2 homolog) (Pc2) (hPc2)

sequence:

opentargets:
nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; PRC1 complex [GO:0035102]; chromatin binding [GO:0003682]; enzyme binding [GO:0019899]; methylated histone binding [GO:0035064]; phosphoprotein binding [GO:0051219]; single-stranded RNA binding [GO:0003727]; SUMO binding [GO:0032183]; SUMO transferase activity [GO:0019789]; transcription corepressor activity [GO:0003714]; transcription regulatory region DNA binding [GO:0044212]; chromatin organization [GO:0006325]; negative regulation of apoptotic process [GO:0043066]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00257-1; Sequence=Displayed; Name=2; IsoId=O00257-3; Sequence=VSP_041599; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12679040, ECO:0000269|PubMed:17018294, ECO:0000269|PubMed:18927235, ECO:0000269|PubMed:21282530}. Nucleus speckle {ECO:0000269|PubMed:19266028}. Note=Localization to nuclear polycomb bodies is required for ZNF131 sumoylation (PubMed:22467880). Localized in distinct foci on chromatin (PubMed:18927235). {ECO:0000269|PubMed:18927235, ECO:0000269|PubMed:22467880}.


uniprotID: Q9UK00
geneSymbol: C3orf18
name: Uncharacterized protein C3orf18 (Protein G20)
length: 162
go: ENSG00000088543;
opentargets: integral component of membrane [GO:0016021]
snps: rs386598 rs1034405
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MNSRTASARGWFSSRPPTSESDLEPATDGPASETTTLSPEATTFNDTRIPDAAGGTAGVGTMLLSFGIITVIGLAVALVLYIRKKKRLEKLRHQLMPMYNFDPTEEQDELEQELLEHGRDAASVQAATSVQAMQGKTTLPSQGPLQRPSRLVFTDVANAIHA

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UK00-1; Sequence=Displayed; Name=2; IsoId=Q9UK00-2; Sequence=VSP_044880; Note=No experimental confirmation available.; 


uniprotID: Q8N5N4
geneSymbol: C3orf22
name: Uncharacterized protein C3orf22
length: 141
go: ENSG00000180697;
sequence:
MDSSACKKSHQSKKWRIQAQENFAKKFPYRLSWLTEPDPEPLQPWEVTNDSNTVQLPLQKRLVPTRSIPVRGLGAPDFTSPSGSCPAPLPAPSPPPLCNLWELKLLSRRFPRQLAFLLSTRHTEAACPQTSKAAGLSRGLS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N5N4-1; Sequence=Displayed; Name=2; IsoId=Q8N5N4-2; Sequence=VSP_056902; Note=No experimental confirmation available.; 


uniprotID: Q96M34
geneSymbol: C3orf30
name: Uncharacterized protein C3orf30
length: 536
go: ENSG00000163424;
snps: rs4687838 rs11550908 rs9859242 rs4077930 rs56317615 rs9289122
sequence:


uniprotID: Q3SXR2
geneSymbol: C3orf36
name: Uncharacterized protein C3orf36
length: 165
go: ENSG00000221972;
sequence:
MQAETILEGLEAGLPQAVSSGLSLVPAPGLVLTCLSAPSGPGGMALEPPPTTLRKAFLAQSTLLESTLEGAPEWAAPHPEEQRRSPPACSQHTPPLPSTPTGPPPCSPGGNHPLCALSGRGGGRCSIPSLSSSSTFSLFSSGCWNPRVKLRVRKSQSQGRAGQLI


uniprotID: Q8N813
geneSymbol: C3orf56
name: Putative uncharacterized protein C3orf56
length: 242
sequence:


uniprotID: Q6ZUJ4
geneSymbol: C3orf62
name: Uncharacterized protein C3orf62
length: 267
go: ENSG00000188315;
snps: rs13077498
sequence:


uniprotID: A6NLC5
geneSymbol: C3orf70
name: UPF0524 protein C3orf70
length: 250
go: ENSG00000187068;
sequence:


uniprotID: Q6ZRV3
geneSymbol: LINC00696
name: Putative uncharacterized protein encoded by LINC00696
length: 163
sequence:
MQSVDSMLGTVGGCGGGEAASTFSKDPSGCCVGNDCRDGGRGLERRHGRWSRGEGGESGLCSGGQMASEIEYWDGLAISVMEVEKAFGSTNVLWKTEPFSLWACTAACPPSLSPTLLALGLPRDGKELAEQGSLWTVLEPGGDWSHSQSQLGTPGRGKGALGF


uniprotID: Q8IW40
geneSymbol: CCDC103
name: Coiled-coil domain-containing protein 103
length: 242
go: ENSG00000167131;
snps: rs145457535
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell projection, cilium, flagellum {ECO:0000250}.
sequence:

opentargets:
axoneme [GO:0005930]; cytoplasm [GO:0005737]; motile cilium [GO:0031514]; protein homodimerization activity [GO:0042803]; axonemal dynein complex assembly [GO:0070286]; cilium movement [GO:0003341]; determination of digestive tract left/right asymmetry [GO:0071907]; epithelial cilium movement involved in determination of left/right asymmetry [GO:0060287]; heart looping [GO:0001947]; inner dynein arm assembly [GO:0036159]; outer dynein arm assembly [GO:0036158]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IW40-1; Sequence=Displayed; Name=2; IsoId=Q8IW40-2; Sequence=VSP_046037, VSP_046038; Note=No experimental confirmation available.; 


uniprotID: Q9H0I3
geneSymbol: CCDC113
name: Coiled-coil domain-containing protein 113
length: 377
go: ENSG00000103021;
snps: rs8043587 rs8043590
sequence:

opentargets:
centriolar satellite [GO:0034451]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; cilium assembly [GO:0060271]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0I3-1; Sequence=Displayed; Name=2; IsoId=Q9H0I3-2; Sequence=VSP_042753; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:25074808}. Note=Colocalized with HAP1 at centriolar satellites. Centriolar satellite localization requires PCM1. {ECO:0000269|PubMed:25074808}.


uniprotID: Q8IYX3
geneSymbol: CCDC116
name: Coiled-coil domain-containing protein 116
length: 613
go: ENSG00000161180;
opentargets: centrosome [GO:0005813]; cytoplasm [GO:0005737]
snps: rs861854 rs371513 rs861853 rs12170285 rs41279987 rs11705259
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=Q8IYX3-2; Sequence=Displayed; Name=1; IsoId=Q8IYX3-1; Sequence=VSP_059646; Note=No experimental confirmation available.; Name=3; IsoId=Q8IYX3-3; Sequence=VSP_059645; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:25074808}.


uniprotID: Q6ZUS5
geneSymbol: CCDC121
name: Coiled-coil domain-containing protein 121
length: 278
go: ENSG00000176714;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZUS5-1; Sequence=Displayed; Name=2; IsoId=Q6ZUS5-2; Sequence=VSP_046649; 


uniprotID: Q5T0U0
geneSymbol: CCDC122
name: Coiled-coil domain-containing protein 122
length: 273
go: ENSG00000151773;
snps: rs9567280
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T0U0-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5T0U0-2; Sequence=VSP_025114; 


uniprotID: Q96M89
geneSymbol: CCDC138
name: Coiled-coil domain-containing protein 138
length: 665
go: ENSG00000163006;
snps: rs35794776 rs6740879
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96M89-1; Sequence=Displayed; Name=2; IsoId=Q96M89-2; Sequence=VSP_025683, VSP_025684; 


uniprotID: Q9UNH5
geneSymbol: CDC14A
reactome: R-HSA-176407;R-HSA-5687128;
length: 594
go: ENSG00000079335;
snps: rs28364897 rs28364923
name:
Dual specificity protein phosphatase CDC14A (EC 3.1.3.16) (EC 3.1.3.48) (CDC14 cell division cycle 14 homolog A)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; kinocilium [GO:0060091]; mitotic spindle [GO:0072686]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle pole [GO:0000922]; phosphoprotein phosphatase activity [GO:0004721]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; cell division [GO:0051301]; cell proliferation [GO:0008283]; mitotic cell cycle arrest [GO:0071850]; mitotic spindle midzone assembly [GO:0051256]; regulation of exit from mitosis [GO:0007096]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=CDC14A1; IsoId=Q9UNH5-1; Sequence=Displayed; Name=2; Synonyms=CDC14A2; IsoId=Q9UNH5-2; Sequence=VSP_012037; Name=3; Synonyms=CDC14A3; IsoId=Q9UNH5-3; Sequence=VSP_012035, VSP_012036; Name=4; Synonyms=CDC14A4; IsoId=Q9UNH5-4; Sequence=VSP_012322, VSP_012323; Note=No experimental confirmation available.; Name=5; IsoId=Q9UNH5-5; Sequence=VSP_047597; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9367992}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:11901424, ECO:0000269|PubMed:12134069}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:11901424, ECO:0000269|PubMed:15263015}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15263015}. Cell projection, kinocilium {ECO:0000250|UniProtKB:Q6GQT0}. Note=Centrosomal during interphase, released into the cytoplasm at the onset of mitosis. Subsequently localizes to the mitotic spindle pole and at the central spindle (PubMed:12134069, PubMed:11901424, PubMed:15263015). Present along both the transient kinocilia of developing cochlear hair cells and the persistent kinocilia of vestibular hair cells (By similarity). {ECO:0000250|UniProtKB:Q6GQT0, ECO:0000269|PubMed:11901424, ECO:0000269|PubMed:12134069, ECO:0000269|PubMed:15263015}.


uniprotID: O60729
geneSymbol: CDC14B
reactome: R-HSA-5687128;
pdb: 1OHC;1OHD;1OHE;
length: 498
go: ENSG00000081377;
snps: rs16911114 rs16911075
name:
Dual specificity protein phosphatase CDC14B (EC 3.1.3.16) (EC 3.1.3.48) (CDC14 cell division cycle 14 homolog B)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; mitotic spindle [GO:0072686]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; DNA repair [GO:0006281]; mitotic cell cycle arrest [GO:0071850]; mitotic spindle midzone assembly [GO:0051256]; positive regulation of ubiquitin protein ligase activity [GO:1904668]; protein dephosphorylation [GO:0006470]; regulation of exit from mitosis [GO:0007096]; signal transduction involved in G2 DNA damage checkpoint [GO:0072425]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; Synonyms=CDC14B2; IsoId=O60729-1; Sequence=Displayed; Name=1; Synonyms=CDC14B1; IsoId=O60729-2; Sequence=VSP_012038; Name=3; Synonyms=CDC14B3; IsoId=O60729-3; Sequence=VSP_012039; Name=4; IsoId=O60729-4; Sequence=VSP_030720; Name=5; IsoId=O60729-5; Sequence=VSP_043576; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus. Nucleus, nucleoplasm. Note=Following DNA damage, translocates from the nucleolus to the nucleoplasm and interacts with FZR1/CDH1.


uniprotID: Q569K6
geneSymbol: CCDC157
name: Coiled-coil domain-containing protein 157
length: 752
snps: rs740223 rs12167903 rs2015035
sequence:


uniprotID: P0C7I6
geneSymbol: CCDC159
name: Coiled-coil domain-containing protein 159
length: 297
go: ENSG00000183401;
snps: rs6887
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=2; IsoId=P0C7I6-2; Sequence=Displayed; Name=3; IsoId=P0C7I6-6; Sequence=VSP_059513, VSP_059514, VSP_059515; Name=4; IsoId=P0C7I6-7; Sequence=VSP_059513; Name=5; IsoId=P0C7I6-8; Sequence=VSP_059514, VSP_059515; 


uniprotID: Q4G0X9
geneSymbol: CCDC40
name: Coiled-coil domain-containing protein 40
length: 1142
go: ENSG00000141519;
snps: rs2289530
sequence:

opentargets:
axoneme [GO:0005930]; cilium [GO:0005929]; cytoplasm [GO:0005737]; motile cilium [GO:0031514]; axonemal dynein complex assembly [GO:0070286]; axoneme assembly [GO:0035082]; cilium movement [GO:0003341]; determination of digestive tract left/right asymmetry [GO:0071907]; determination of liver left/right asymmetry [GO:0071910]; determination of pancreatic left/right asymmetry [GO:0035469]; epithelial cilium movement [GO:0003351]; epithelial cilium movement involved in determination of left/right asymmetry [GO:0060287]; flagellated sperm motility [GO:0030317]; heart looping [GO:0001947]; inner dynein arm assembly [GO:0036159]; lung development [GO:0030324]; motile cilium assembly [GO:0044458]; protein localization to cilium [GO:0061512]; regulation of cilium beat frequency [GO:0003356]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q4G0X9-1; Sequence=Displayed; Name=2; IsoId=Q4G0X9-2; Sequence=VSP_028308, VSP_028309; Name=3; IsoId=Q4G0X9-3; Sequence=VSP_028302, VSP_028303; Name=4; IsoId=Q4G0X9-4; Sequence=VSP_028306, VSP_028307; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=Q4G0X9-5; Sequence=VSP_028304, VSP_028305; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BI79}. Cell projection, cilium {ECO:0000269|PubMed:27120127}. Note=Localizes to cytoplasm and motile cilium. {ECO:0000250|UniProtKB:Q8BI79}.


uniprotID: Q96MW1
geneSymbol: CCDC43
name: Coiled-coil domain-containing protein 43
length: 224
go: ENSG00000180329;
opentargets: cytosol [GO:0005829]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MW1-1; Sequence=Displayed; Name=2; IsoId=Q96MW1-2; Sequence=VSP_040750; 


uniprotID: Q96A33
geneSymbol: CCDC47
name: Coiled-coil domain-containing protein 47
length: 483
go: ENSG00000108588;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; rough endoplasmic reticulum [GO:0005791]; calcium ion binding [GO:0005509]; RNA binding [GO:0003723]; calcium ion homeostasis [GO:0055074]; endoplasmic reticulum organization [GO:0007029]; ER overload response [GO:0006983]; osteoblast differentiation [GO:0001649]; post-embryonic development [GO:0009791]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96A33-1; Sequence=Displayed; Name=2; IsoId=Q96A33-2; Sequence=VSP_018478; 


uniprotID: Q76M96
geneSymbol: CCDC80
length: 950
go: ENSG00000091986;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
Coiled-coil domain-containing protein 80 (Down-regulated by oncogenes protein 1) (Up-regulated in BRS-3 deficient mouse homolog)

sequence:

opentargets:
basement membrane [GO:0005604]; interstitial matrix [GO:0005614]; fibronectin binding [GO:0001968]; heparin binding [GO:0008201]; extracellular matrix organization [GO:0030198]; positive regulation of cell-substrate adhesion [GO:0010811]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q76M96-1; Sequence=Displayed; Name=2; IsoId=Q76M96-2; Sequence=VSP_024136; Name=3; IsoId=Q76M96-3; Sequence=VSP_024135; 


uniprotID: Q86UT8
geneSymbol: CCDC84
name: Coiled-coil domain-containing protein 84
length: 332
go: ENSG00000186166;
snps: rs600648
sequence:


uniprotID: Q8N998
geneSymbol: CCDC89
name: Coiled-coil domain-containing protein 89 (Bc8 orange-interacting protein)
length: 374
go: ENSG00000179071;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Uniformly distributed within the cell, but becomes recruited to the nucleus upon binding to HEY1. {ECO:0000250}.


uniprotID: Q53HC0
geneSymbol: CCDC92
name: Coiled-coil domain-containing protein 92 (Limkain beta-2)
length: 331
go: ENSG00000119242;
snps: rs11057401 rs35935939 rs17886730
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53HC0-1; Sequence=Displayed; Name=2; IsoId=Q53HC0-2; Sequence=VSP_056906; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:22863007}.


uniprotID: Q567U6
geneSymbol: CCDC93
name: Coiled-coil domain-containing protein 93
length: 631
go: ENSG00000125633;
snps: rs33975708 rs34095554 rs17512204 rs17047557
location: SUBCELLULAR LOCATION: Early endosome {ECO:0000305|PubMed:25355947}.
sequence:

opentargets:
early endosome [GO:0005769]; intracellular membrane-bounded organelle [GO:0043231]; Golgi to plasma membrane transport [GO:0006893]; protein transport [GO:0015031]


uniprotID: Q2M329
geneSymbol: CCDC96
name: Coiled-coil domain-containing protein 96
length: 555
go: ENSG00000173013;
opentargets: cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]
snps: rs871134
sequence:


uniprotID: Q96F63
geneSymbol: CCDC97
name: Coiled-coil domain-containing protein 97
length: 343
go: ENSG00000142039;
opentargets: U2 snRNP [GO:0005686]
sequence:


uniprotID: Q9BQI4
geneSymbol: CCDC3
name: Coiled-coil domain-containing protein 3 (Fat/vessel-derived secretory protein) (Favine)
length: 270
go: ENSG00000151468;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q9D6Y1}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of lipid biosynthetic process [GO:0046889]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQI4-1; Sequence=Displayed; Name=2; IsoId=Q9BQI4-2; Sequence=VSP_054551; Note=No experimental confirmation available.; 


uniprotID: Q9H0W5
geneSymbol: CCDC8
reactome: R-HSA-8951664;
pdb: 4LG6;
name: Coiled-coil domain-containing protein 8
length: 538
go: ENSG00000169515;
snps: rs11880658 rs34186470 rs2279517
sequence:

opentargets:
3M complex [GO:1990393]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of phosphatase activity [GO:0010923]; post-translational protein modification [GO:0043687]; regulation of mitotic nuclear division [GO:0007088]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24793695}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:24793695}.


uniprotID: O60359
geneSymbol: CACNG3
reactome: R-HSA-399719;R-HSA-5576892;R-HSA-5576893;R-HSA-5682910;
length: 315
go: ENSG00000006116;
name:
Voltage-dependent calcium channel gamma-3 subunit (Neuronal voltage-gated calcium channel gamma-3 subunit) (Transmembrane AMPAR regulatory protein gamma-3) (TARP gamma-3)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; dendrite [GO:0030425]; endocytic vesicle membrane [GO:0030666]; excitatory synapse [GO:0060076]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; Schaffer collateral - CA1 synapse [GO:0098685]; somatodendritic compartment [GO:0036477]; voltage-gated calcium channel complex [GO:0005891]; channel regulator activity [GO:0016247]; ionotropic glutamate receptor binding [GO:0035255]; PDZ domain binding [GO:0030165]; voltage-gated calcium channel activity [GO:0005245]; calcium ion transport [GO:0006816]; neurotransmitter receptor internalization [GO:0099590]; neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0099645]; neurotransmitter receptor transport, postsynaptic endosome to lysosome [GO:0098943]; positive regulation of AMPA receptor activity [GO:2000969]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; postsynaptic neurotransmitter receptor diffusion trapping [GO:0098970]; protein localization [GO:0008104]; protein targeting [GO:0006605]; regulation of AMPA receptor activity [GO:2000311]; transmission of nerve impulse [GO:0019226]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}. Note=Displays a somatodendritic localization and is excluded from axons in neurons. {ECO:0000250|UniProtKB:Q9JJV5}.


uniprotID: Q9BXT2
geneSymbol: CACNG6
reactome: R-HSA-5576892;R-HSA-5576893;
length: 260
go: ENSG00000130433;
snps: rs12980121
name:
Voltage-dependent calcium channel gamma-6 subunit (Neuronal voltage-gated calcium channel gamma-6 subunit)

sequence:

opentargets:
L-type voltage-gated calcium channel complex [GO:1990454]; plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; calcium channel regulator activity [GO:0005246]; voltage-gated calcium channel activity [GO:0005245]; calcium ion transport [GO:0006816]; regulation of ion transmembrane transport [GO:0034765]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:21127204}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q8WXS5
geneSymbol: CACNG8
reactome: R-HSA-399719;R-HSA-5576892;R-HSA-5576893;R-HSA-5682910;
length: 425
go: ENSG00000142408;
name:
Voltage-dependent calcium channel gamma-8 subunit (Neuronal voltage-gated calcium channel gamma-8 subunit) (Transmembrane AMPAR regulatory protein gamma-8) (TARP gamma-8)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; endocytic vesicle membrane [GO:0030666]; L-type voltage-gated calcium channel complex [GO:1990454]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic density membrane [GO:0098839]; voltage-gated calcium channel complex [GO:0005891]; calcium channel regulator activity [GO:0005246]; channel regulator activity [GO:0016247]; voltage-gated calcium channel activity [GO:0005245]; calcium ion transport [GO:0006816]; neurotransmitter receptor internalization [GO:0099590]; neurotransmitter receptor transport, postsynaptic endosome to lysosome [GO:0098943]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; postsynaptic neurotransmitter receptor diffusion trapping [GO:0098970]; regulation of AMPA receptor activity [GO:2000311]; transmission of nerve impulse [GO:0019226]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8VHW2}; Multi-pass membrane protein {ECO:0000305}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q8VHW2}.


uniprotID: Q8WXS4
geneSymbol: TMEM37
length: 190
go: ENSG00000171227;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Voltage-dependent calcium channel gamma-like subunit (Neuronal voltage-gated calcium channel gamma-like subunit) (Transmembrane protein 37)

sequence:
MTAVGVQAQRPLGQRQPRRSFFESFIRTLIITCVALAVVLSSVSICDGHWLLAEDRLFGLWHFCTTTNQTICFRDLGQAHVPGLAVGMGLVRSVGALAVVAAIFGLEFLMVSQLCEDKHSQCKWVMGSILLLVSFVLSSGGLLGFVILLRNQVTLIGFTLMFWCEFTASFLLFLNAISGLHINSITHPWE

opentargets:
integral component of membrane [GO:0016021]; calcium channel activity [GO:0005262]; voltage-gated ion channel activity [GO:0005244]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: Q8TD31
geneSymbol: CCHCR1
length: 782
go: ENSG00000204536;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
Coiled-coil alpha-helical rod protein 1 (Alpha-helical coiled-coil rod protein) (Putative gene 8 protein) (Pg8)

sequence:

opentargets:
centriole [GO:0005814]; cytosol [GO:0005829]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; protein export from nucleus [GO:0006611]

snps:
rs130075 rs130065 rs130076 rs130066 rs11540822 rs130067 rs2027937 rs130069 rs130068 rs2073720 rs130079 rs130072 rs130074 rs140560656 rs1576 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TD31-1; Sequence=Displayed; Name=2; IsoId=Q8TD31-2; Sequence=VSP_038062; Name=3; IsoId=Q8TD31-3; Sequence=VSP_047069; Note=Gene prediction based on EST data.; 


uniprotID: P51671
geneSymbol: CCL11
reactome: R-HSA-6785807;
pdb: 1EOT;2EOT;2MPM;
name: Eotaxin (C-C motif chemokine 11) (Eosinophil chemotactic protein) (Small-inducible cytokine A11)
sequence: MKVSAALLWLLLIAAAFSPQGLAGPASVPTTCCFNLANRKIPLQRLESYRRITSGKCPQKAVIFKTKLAKDICADPKKKWVQDSMKYLDQKSPTPKP
length: 97
go: ENSG00000172156;
drug: DB05429;
snps: rs1129844 rs34262946
location: SUBCELLULAR LOCATION: Secreted.
opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; CCR chemokine receptor binding [GO:0048020]; CCR3 chemokine receptor binding [GO:0031728]; chemokine activity [GO:0008009]; protein dimerization activity [GO:0046983]; receptor ligand activity [GO:0048018]; actin filament organization [GO:0007015]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; branching involved in mammary gland duct morphogenesis [GO:0060444]; cell adhesion [GO:0007155]; cellular calcium ion homeostasis [GO:0006874]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; chronic inflammatory response [GO:0002544]; cytokine-mediated signaling pathway [GO:0019221]; cytoskeleton organization [GO:0007010]; eosinophil chemotaxis [GO:0048245]; ERK1 and ERK2 cascade [GO:0070371]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; lymphocyte chemotaxis [GO:0048247]; mammary duct terminal end bud growth [GO:0060763]; mast cell chemotaxis [GO:0002551]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell migration [GO:0030335]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; protein phosphorylation [GO:0006468]; regulation of cell shape [GO:0008360]; response to interleukin-13 [GO:0035962]; response to interleukin-4 [GO:0070670]; response to radiation [GO:0009314]; response to virus [GO:0009615]; signal transduction [GO:0007165]


uniprotID: Q92583
geneSymbol: CCL17
pdb: 1NR2;1NR4;5WK3;
sequence: MAPLKMLALVTLLLGASLQHIHAARGTNVGRECCLEYFKGAIPLRKLKTWYQTSEDCSRDAIVFVTVQGRAICSDPNNKRVKNAVKYLQSLERS
length: 94
go: ENSG00000102970;
snps: rs34693308 rs34379253
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 17 (CC chemokine TARC) (Small-inducible cytokine A17) (Thymus and activation-regulated chemokine)

opentargets:
extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; CCR4 chemokine receptor binding [GO:0031729]; chemokine activity [GO:0008009]; signaling receptor binding [GO:0005102]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell-cell signaling [GO:0007267]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; multicellular organism development [GO:0007275]; negative regulation of myoblast differentiation [GO:0045662]; neutrophil chemotaxis [GO:0030593]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]


uniprotID: P55774
geneSymbol: CCL18
pdb: 4MHE;
sequence: MKGLAAALLVLVCTMALCSCAQVGTNKELCCLVYTSWQIPQKFIVDYSETSPQCPKPGVILLTKRGRQICADPNKKWVQKYISDLKLNA
length: 89
go: ENSG00000275385;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 18 (Alternative macrophage activation-associated CC chemokine 1) (AMAC-1) (CC chemokine PARC) (Dendritic cell chemokine 1) (DC-CK1) (Macrophage inflammatory protein 4) (MIP-4) (Pulmonary and activation-regulated chemokine) (Small-inducible cytokine A18) [Cleaved into: CCL18(1-68); CCL18(3-69); CCL18(4-69)]

opentargets:
extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; chemokine activity [GO:0008009]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell communication [GO:0007154]; cell-cell signaling [GO:0007267]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of inflammatory response [GO:0050729]; signal transduction [GO:0007165]


uniprotID: P10147
geneSymbol: CCL3
reactome: R-HSA-6783783;
pdb: 1B50;1B53;2X69;2X6G;3FPU;3H44;3KBX;4RA8;4ZKB;5COR;5D65;
sequence: MQVSTAALAVLLCTMALCNQFSASLAADTPTACCFSYTSRQIPQNFIADYFETSSQCSKPGVIFLTKRSRQVCADPSEEWVQKYVSDLELSA
length: 92
go: ENSG00000277632;
drug: DB05364;
snps: rs34171309
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 3 (G0/G1 switch regulatory protein 19-1) (Macrophage inflammatory protein 1-alpha) (MIP-1-alpha) (PAT 464.1) (SIS-beta) (Small-inducible cytokine A3) (Tonsillar lymphocyte LD78 alpha protein) [Cleaved into: MIP-1-alpha(4-69) (LD78-alpha(4-69))]

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; calcium-dependent protein kinase C activity [GO:0004698]; CCR chemokine receptor binding [GO:0048020]; CCR1 chemokine receptor binding [GO:0031726]; CCR5 chemokine receptor binding [GO:0031730]; chemoattractant activity [GO:0042056]; chemokine activity [GO:0008009]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; phospholipase activator activity [GO:0016004]; protein kinase activity [GO:0004672]; astrocyte cell migration [GO:0043615]; calcium ion transport [GO:0006816]; calcium-mediated signaling [GO:0019722]; cell activation [GO:0001775]; cell-cell signaling [GO:0007267]; cellular calcium ion homeostasis [GO:0006874]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to organic cyclic compound [GO:0071407]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; cytoskeleton organization [GO:0007010]; eosinophil chemotaxis [GO:0048245]; eosinophil degranulation [GO:0043308]; exocytosis [GO:0006887]; G protein-coupled receptor signaling pathway [GO:0007186]; granulocyte chemotaxis [GO:0071621]; inflammatory response [GO:0006954]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; lymphocyte chemotaxis [GO:0048247]; macrophage chemotaxis [GO:0048246]; MAPK cascade [GO:0000165]; monocyte chemotaxis [GO:0002548]; negative regulation by host of viral transcription [GO:0043922]; negative regulation of bone mineralization [GO:0030502]; negative regulation of gene expression [GO:0010629]; negative regulation of osteoclast differentiation [GO:0045671]; neutrophil chemotaxis [GO:0030593]; osteoblast differentiation [GO:0001649]; positive regulation of calcium ion import [GO:0090280]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of cell migration [GO:0030335]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of GTPase activity [GO:0043547]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of natural killer cell chemotaxis [GO:2000503]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of tumor necrosis factor production [GO:0032760]; protein kinase B signaling [GO:0043491]; regulation of behavior [GO:0050795]; regulation of cell shape [GO:0008360]; regulation of sensory perception of pain [GO:0051930]; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0014808]; response to cholesterol [GO:0070723]; response to toxic substance [GO:0009636]; signaling [GO:0023052]; T cell chemotaxis [GO:0010818]


uniprotID: P24863
geneSymbol: CCNC
reactome: R-HSA-1989781;R-HSA-2122947;R-HSA-212436;R-HSA-2173796;R-HSA-2644606;R-HSA-2894862;R-HSA-381340;
name: Cyclin-C (SRB11 homolog) (hSRB11)
length: 283
go: ENSG00000112237;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
pdb:
3RGF;4CRL;4F6S;4F6U;4F6W;4F70;4F7J;4F7L;4F7N;4F7S;4G6L;5BNJ;5CEI;5FGK;5HBE;5HBH;5HBJ;5HNB;5HVY;5I5Z;5ICP;5IDN;5IDP;5XQX;5XS2;

sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; mediator complex [GO:0016592]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein serine/threonine kinase activity [GO:0004674]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of phosphorylation of RNA polymerase II C-terminal domain [GO:1901409]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P24863-1; Sequence=Displayed; Name=2; IsoId=P24863-2; Sequence=VSP_043075; Note=No experimental confirmation available.; 


uniprotID: P30281
geneSymbol: CCND3
reactome: R-HSA-381340;R-HSA-5687128;R-HSA-69231;R-HSA-8934593;
pdb: 3G33;
name: G1/S-specific cyclin-D3
length: 292
go: ENSG00000112576;
snps: rs3218089 rs33966734 rs1051130
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; mitotic cell cycle [GO:0000278]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of protein phosphorylation [GO:0001934]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of insulin receptor signaling pathway [GO:0046626]; regulation of mitotic nuclear division [GO:0007088]; signal transduction [GO:0007165]; T cell proliferation [GO:0042098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P30281-1; Sequence=Displayed; Name=2; IsoId=P30281-2; Sequence=VSP_042649; Note=No experimental confirmation available.; Name=3; IsoId=P30281-3; Sequence=VSP_046267; Note=No experimental confirmation available.; Name=4; IsoId=P30281-4; Sequence=VSP_046266; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15358120}. Cytoplasm {ECO:0000269|PubMed:15358120}. Membrane {ECO:0000269|PubMed:15358120}. Note=Cyclin D-CDK4 complexes accumulate at the nuclear membrane and are then translocated to the nucleus through interaction with KIP/CIP family members. {ECO:0000250}.


uniprotID: P24864
geneSymbol: CCNE1
pdb: 1W98;5L2W;
name: G1/S-specific cyclin-E1
length: 410
go: ENSG00000105173;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:7739542}.
reactome:
R-HSA-1538133;R-HSA-187577;R-HSA-2559586;R-HSA-390471;R-HSA-539107;R-HSA-6804116;R-HSA-69017;R-HSA-69200;R-HSA-69202;R-HSA-69563;R-HSA-8849470;

sequence:

opentargets:
centrosome [GO:0005813]; cyclin E1-CDK2 complex [GO:0097134]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; androgen receptor binding [GO:0050681]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; transcription coactivator activity [GO:0003713]; androgen receptor signaling pathway [GO:0030521]; cell division [GO:0051301]; DNA replication initiation [GO:0006270]; G1/S transition of mitotic cell cycle [GO:0000082]; mitotic cell cycle [GO:0000278]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]; regulation of cellular protein localization [GO:1903827]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; synapsis [GO:0007129]; telomere maintenance [GO:0000723]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=E1L; Synonyms=E-L; IsoId=P24864-1; Sequence=Displayed; Name=E1S; IsoId=P24864-2; Sequence=VSP_001253; Note=Lacks 49 residues within the cyclin box and cannot complex with CDK2.; Name=3; Synonyms=E-S; IsoId=P24864-3; Sequence=VSP_037381; 


uniprotID: P41002
geneSymbol: CCNF
reactome: R-HSA-8951664;R-HSA-983168;
name: Cyclin-F (F-box only protein 1)
length: 786
go: ENSG00000162063;
sequence:

opentargets:
cell junction [GO:0030054]; centriole [GO:0005814]; centrosome [GO:0005813]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; SCF ubiquitin ligase complex [GO:0019005]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; ubiquitin-protein transferase activity [GO:0004842]; cell division [GO:0051301]; mitotic cell cycle [GO:0000278]; negative regulation of centrosome duplication [GO:0010826]; placenta development [GO:0001890]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; post-translational protein modification [GO:0043687]; protein phosphorylation [GO:0006468]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; re-entry into mitotic cell cycle [GO:0000320]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localization in the centrosome is rare in S phase cells and increases in G2 cells, Localizes on both the mother and daughter centrioles. Localization to centrosomes is not dependent on CP110. Also localizes to the nucleus.


uniprotID: P51959
geneSymbol: CCNG1
reactome: R-HSA-6804757;
name: Cyclin-G1 (Cyclin-G)
length: 295
go: ENSG00000113328;
snps: rs2069352 rs11541970
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; mitotic cell cycle [GO:0000278]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; protein phosphorylation [GO:0006468]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51959-1; Sequence=Displayed; Name=2; IsoId=P51959-2; Sequence=VSP_056943; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10196184}. Note=DNA replication foci after DNA damage.


uniprotID: O75909
geneSymbol: CCNK
pdb: 2I53;4CXA;4NST;4UN0;5ACB;5EFQ;6B3E;6CKX;
name: Cyclin-K
length: 580
go: ENSG00000090061;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22012619}.
reactome:
R-HSA-112382;R-HSA-167152;R-HSA-167287;R-HSA-167290;R-HSA-2173796;R-HSA-674695;R-HSA-6796648;R-HSA-6807505;R-HSA-75955;

sequence:

opentargets:
cyclin K-CDK12 complex [GO:0002944]; cyclin K-CDK13 complex [GO:0002945]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase II CTD heptapeptide repeat kinase activity [GO:0008353]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular response to DNA damage stimulus [GO:0006974]; negative regulation by host of viral genome replication [GO:0044828]; negative regulation of cell cycle arrest [GO:0071157]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of phosphorylation of RNA polymerase II C-terminal domain [GO:1901409]; positive regulation of phosphorylation of RNA polymerase II C-terminal domain serine 2 residues [GO:2001165]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75909-3; Sequence=Displayed; Name=2; IsoId=O75909-2; Sequence=VSP_010830, VSP_035972; Name=3; IsoId=O75909-1; Sequence=VSP_035971, VSP_035973; Name=4; IsoId=O75909-4; Sequence=VSP_035970; 


uniprotID: O60583
geneSymbol: CCNT2
pdb: 2IVX;
name: Cyclin-T2 (CycT2)
length: 730
go: ENSG00000082258;
reactome:
R-HSA-112382;R-HSA-167152;R-HSA-167287;R-HSA-167290;R-HSA-2173796;R-HSA-674695;R-HSA-6796648;R-HSA-6807505;R-HSA-75955;

sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cyclin/CDK positive transcription elongation factor complex [GO:0008024]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; 7SK snRNA binding [GO:0097322]; chromatin binding [GO:0003682]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase binding [GO:0070063]; transcription coactivator binding [GO:0001223]; cell cycle [GO:0007049]; cell division [GO:0051301]; early viral transcription [GO:0019085]; late viral transcription [GO:0019086]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of phosphorylation of RNA polymerase II C-terminal domain [GO:1901409]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of muscle cell differentiation [GO:0051147]; skeletal muscle tissue development [GO:0007519]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=B; IsoId=O60583-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=O60583-2; Sequence=VSP_001258; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q7TQK0}. Nucleus {ECO:0000250|UniProtKB:Q7TQK0}. Note=Nucleus in differentiating cells. {ECO:0000250|UniProtKB:Q7TQK0}.


uniprotID: P46092
geneSymbol: CCR10
reactome: R-HSA-380108;R-HSA-418594;
name: C-C chemokine receptor type 10 (C-C CKR-10) (CC-CKR-10) (CCR-10) (G-protein coupled receptor 2)
length: 362
go: ENSG00000184451;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; chemokine binding [GO:0019956]; G protein-coupled receptor activity [GO:0004930]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; positive regulation of cytosolic calcium ion concentration [GO:0007204]


uniprotID: Q9BPX5
geneSymbol: ARPC5L
length: 153
go: ENSG00000136950;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
name:
Actin-related protein 2/3 complex subunit 5-like protein (Arp2/3 complex 16 kDa subunit 2) (ARC16-2)

sequence:
MARNTLSSRFRRVDIDEFDENKFVDEQEEAAAAAAEPGPDPSEVDGLLRQGDMLRAFHAALRNSPVNTKNQAVKERAQGVVLKVLTNFKSSEIEQAVQSLDRNGVDLLMKYIYKGFEKPTENSSAVLLQWHEKALAVGGLGSIIRVLTARKTV

opentargets:
Arp2/3 protein complex [GO:0005885]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; actin filament binding [GO:0051015]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; cell migration [GO:0016477]


uniprotID: Q9H981
geneSymbol: ACTR8
reactome: R-HSA-5689603;R-HSA-5696394;
pdb: 4FO0;
name: Actin-related protein 8 (hArp8) (INO80 complex subunit N)
length: 624
go: ENSG00000113812;
snps: rs3733082
sequence:

opentargets:
centrosome [GO:0005813]; Ino80 complex [GO:0031011]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cell cycle [GO:0007049]; cell division [GO:0051301]; chromatin remodeling [GO:0006338]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H981-1; Sequence=Displayed; Name=2; IsoId=Q9H981-2; Sequence=VSP_040507; Note=No experimental confirmation available.; Name=3; IsoId=Q9H981-3; Sequence=VSP_040506, VSP_040508; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18163988}. Chromosome {ECO:0000269|PubMed:18163988}. Note=Specifically localizes to mitotic chromosomes.


uniprotID: Q9H9F9
geneSymbol: ACTR5
reactome: R-HSA-5689603;R-HSA-5696394;
pdb: 6ETX;
name: Actin-related protein 5 (hARP5) (Sarcoma antigen NY-SAR-16)
length: 607
go: ENSG00000101442;
snps: rs17853829 rs35805905 rs2245231 rs3752289
sequence:

opentargets:
cytoplasm [GO:0005737]; Ino80 complex [GO:0031011]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA recombination [GO:0006310]; double-strand break repair [GO:0006302]; protein deubiquitination [GO:0016579]; UV-damage excision repair [GO:0070914]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18026119, ECO:0000269|PubMed:18163988, ECO:0000269|PubMed:19014934}. Cytoplasm {ECO:0000269|PubMed:19014934}. Note=Predominantly nuclear but undergoes nucleo-cytoplasmic shuttling (PubMed:19014934). Localized to interphase nuclei, but not nucleoli; excluded from chromosomes as mitosis progresses (PubMed:18163988).


uniprotID: O15511
geneSymbol: ARPC5
reactome: R-HSA-2029482;R-HSA-3928662;R-HSA-5663213;R-HSA-6798695;R-HSA-8856828;
name: Actin-related protein 2/3 complex subunit 5 (Arp2/3 complex 16 kDa subunit) (p16-ARC)
length: 151
go: ENSG00000162704;
drug: DB08235;
sequence:
MSKNTVSSARFRKVDVDEYDENKFVDEEDGGDGQAGPDEGEVDSCLRQGNMTAALQAALKNPPINTKSQAVKDRAGSIVLKVLISFKANDIEKAVQSLDKNGVDLLMKYIYKGFESPSDNSSAMLLQWHEKALAAGGVGSIVRVLTARKTV

opentargets:
actin cytoskeleton [GO:0015629]; Arp2/3 protein complex [GO:0005885]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; focal adhesion [GO:0005925]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; site of double-strand break [GO:0035861]; actin filament binding [GO:0051015]; structural constituent of cytoskeleton [GO:0005200]; actin cytoskeleton organization [GO:0030036]; actin filament network formation [GO:0051639]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; cell migration [GO:0016477]; ephrin receptor signaling pathway [GO:0048013]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; lamellipodium organization [GO:0097581]; maintenance of cell polarity [GO:0030011]; membrane organization [GO:0061024]; microtubule organizing center localization [GO:0061842]; neutrophil degranulation [GO:0043312]; orbitofrontal cortex development [GO:0021769]; smooth muscle cell migration [GO:0014909]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15511-1; Sequence=Displayed; Name=2; IsoId=O15511-2; Sequence=VSP_024028; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9230079}. Cell projection {ECO:0000269|PubMed:9230079}. Nucleus {ECO:0000269|PubMed:29925947}.


uniprotID: P51681
geneSymbol: CCR5
reactome: R-HSA-173107;R-HSA-380108;R-HSA-418594;R-HSA-6783783;
pdb: 1ND8;1NE0;1OPN;1OPT;1OPW;2L87;2MZX;2RLL;2RRS;4MBS;5UIW;5YD3;5YD4;5YD5;5YY4;6FGP;
length: 352
go: ENSG00000160791;
drug: DB05501;DB05062;DB04835;
name:
C-C chemokine receptor type 5 (C-C CKR-5) (CC-CKR-5) (CCR-5) (CCR5) (CHEMR13) (HIV-1 fusion coreceptor) (CD antigen CD195)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; endosome [GO:0005768]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; chemokine (C-C motif) ligand 5 binding [GO:0071791]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; coreceptor activity [GO:0015026]; phosphatidylinositol phospholipase C activity [GO:0004435]; virus receptor activity [GO:0001618]; calcium ion transport [GO:0006816]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cellular defense response [GO:0006968]; cellular response to lipopolysaccharide [GO:0071222]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; dendritic cell chemotaxis [GO:0002407]; entry into host cell [GO:0030260]; fusion of virus membrane with host plasma membrane [GO:0019064]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; MAPK cascade [GO:0000165]; negative regulation of macrophage apoptotic process [GO:2000110]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0014808]; response to cholesterol [GO:0070723]; signaling [GO:0023052]

snps:
rs145061115 rs1800939 rs56340326 rs1799863 rs1800940 rs758090461 rs56198941 rs149975182 rs183662584 rs199824195 rs1017863136 rs1800452 rs143181119 rs534088482 rs1800943 rs1800944 rs1800945 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10383387, ECO:0000269|PubMed:11323418}; Multi-pass membrane protein {ECO:0000269|PubMed:11323418}.


uniprotID: P51684
geneSymbol: CCR6
reactome: R-HSA-1461957;R-HSA-380108;R-HSA-418594;
length: 374
go: ENSG00000112486;
name:
C-C chemokine receptor type 6 (C-C CKR-6) (CC-CKR-6) (CCR-6) (Chemokine receptor-like 3) (CKR-L3) (DRY6) (G-protein coupled receptor 29) (GPR-CY4) (GPRCY4) (LARC receptor) (CD antigen CD196)

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; sperm flagellum [GO:0036126]; sperm midpiece [GO:0097225]; sperm plasma membrane [GO:0097524]; sperm principal piece [GO:0097228]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; signaling receptor activity [GO:0038023]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; cellular defense response [GO:0006968]; chemotaxis [GO:0006935]; dendritic cell chemotaxis [GO:0002407]; DN2 thymocyte differentiation [GO:1904155]; DN3 thymocyte differentiation [GO:1904156]; G protein-coupled receptor signaling pathway [GO:0007186]; humoral immune response [GO:0006959]; immune response [GO:0006955]; isotype switching to IgA isotypes [GO:0048290]; leukocyte migration involved in inflammatory response [GO:0002523]; lymphocyte migration [GO:0072676]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of dendritic cell chemotaxis [GO:2000510]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of flagellated sperm motility involved in capacitation [GO:0060474]; regulation of T cell migration [GO:2000404]; signal transduction [GO:0007165]; T cell migration [GO:0072678]; thymocyte migration [GO:0072679]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23765988}; Multi-pass membrane protein {ECO:0000255}. Cell surface {ECO:0000269|PubMed:12081481}.


uniprotID: P09972
geneSymbol: ALDOC
reactome: R-HSA-6798695;R-HSA-70171;R-HSA-70263;
pdb: 1XFB;
name: Fructose-bisphosphate aldolase C (EC 4.1.2.13) (Brain-type aldolase)
length: 364
go: ENSG00000109107;
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; secretory granule lumen [GO:0034774]; tertiary granule lumen [GO:1904724]; cytoskeletal protein binding [GO:0008092]; fructose-bisphosphate aldolase activity [GO:0004332]; canonical glycolysis [GO:0061621]; epithelial cell differentiation [GO:0030855]; fructose 1,6-bisphosphate metabolic process [GO:0030388]; fructose metabolic process [GO:0006000]; gluconeogenesis [GO:0006094]; neutrophil degranulation [GO:0043312]


uniprotID: Q01433
geneSymbol: AMPD2
reactome: R-HSA-74217;
pdb: 4NO3;4NO5;
name: AMP deaminase 2 (EC 3.5.4.6) (AMP deaminase isoform L)
length: 879
go: ENSG00000116337;
snps: rs201254826 rs587777395 rs587777392 rs587777394
sequence:

opentargets:
cytosol [GO:0005829]; AMP deaminase activity [GO:0003876]; metal ion binding [GO:0046872]; cyclic purine nucleotide metabolic process [GO:0052652]; energy homeostasis [GO:0097009]; IMP biosynthetic process [GO:0006188]; IMP salvage [GO:0032264]; purine-containing compound salvage [GO:0043101]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=Ex1B-2-3; IsoId=Q01433-1; Sequence=Displayed; Name=Ex1A-2-3; IsoId=Q01433-2; Sequence=VSP_001271, VSP_001272; Name=Ex1A-3; IsoId=Q01433-3; Sequence=VSP_001274; Name=Ex1B-3; IsoId=Q01433-4; Sequence=VSP_001273; Name=5; IsoId=Q01433-5; Sequence=VSP_045975; Note=No experimental confirmation available.; 


uniprotID: P04745
geneSymbol: AMY1A; AMY1B; AMY1C
reactome: R-HSA-189085;
pdb: 1C8Q;1JXJ;1JXK;1MFU;1MFV;1NM9;1Q4N;1SMD;1XV8;1Z32;3BLK;3BLP;3DHP;
name: Alpha-amylase 1 (EC 3.2.1.1) (1,4-alpha-D-glucan glucanohydrolase 1) (Salivary alpha-amylase)
length: 511
go: ENSG00000187733;
drug: DB03092;DB02379;DB03088;DB04237;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; alpha-amylase activity [GO:0004556]; alpha-amylase activity (releasing maltohexaose) [GO:0103025]; metal ion binding [GO:0046872]; carbohydrate metabolic process [GO:0005975]


uniprotID: Q6UX39
geneSymbol: AMTN
reactome: R-HSA-381426;R-HSA-8957275;
name: Amelotin
length: 209
go: ENSG00000187689;
snps: rs7660807 rs34803339 rs151041998
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q9D3J8}.
sequence:

opentargets:
basement membrane [GO:0005604]; cell-cell junction [GO:0005911]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; biomineral tissue development [GO:0031214]; cell adhesion [GO:0007155]; cellular protein metabolic process [GO:0044267]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of biomineral tissue development [GO:0070169]; positive regulation of enamel mineralization [GO:0070175]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UX39-1; Sequence=Displayed; Name=2; IsoId=Q6UX39-2; Sequence=VSP_023919; Note=No experimental confirmation available.; 


uniprotID: A6QL64
geneSymbol: ANKRD36
name: Ankyrin repeat domain-containing protein 36A
length: 1941
go: ENSG00000135976;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A6QL64-1; Sequence=Displayed; Name=2; IsoId=A6QL64-3; Sequence=VSP_039656, VSP_039661, VSP_039662, VSP_039663, VSP_039664, VSP_039665; Name=3; IsoId=A6QL64-4, Q6UX02-1; Sequence=VSP_039657, VSP_039658; Name=4; IsoId=A6QL64-5, Q6UX02-2; Sequence=VSP_039659, VSP_039660; 


uniprotID: P05814
geneSymbol: CSN2
reactome: R-HSA-1251985;
name: Beta-casein
length: 226
go: ENSG00000135222;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; enzyme inhibitor activity [GO:0004857]; calcium ion transport [GO:0006816]; lactation [GO:0007595]; negative regulation of cysteine-type endopeptidase activity [GO:2000117]; negative regulation of lactation [GO:1903488]


uniprotID: Q96PS8
geneSymbol: AQP10
reactome: R-HSA-432047;
name: Aquaporin-10 (AQP-10) (Aquaglyceroporin-10) (Small intestine aquaporin)
length: 301
go: ENSG00000143595;
snps: rs6668968 rs6685323
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; glycerol channel activity [GO:0015254]; urea channel activity [GO:0015265]; water channel activity [GO:0015250]; response to toxic substance [GO:0009636]; water transport [GO:0006833]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96PS8-1; Sequence=Displayed; Name=2; IsoId=Q96PS8-2; Sequence=VSP_010211; 


uniprotID: Q6P4E1
geneSymbol: CASC4
name: Protein CASC4 (Cancer susceptibility candidate gene 4 protein)
length: 433
go: ENSG00000166734;
opentargets: Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6P4E1-1; Sequence=Displayed; Name=2; IsoId=Q6P4E1-2; Sequence=VSP_026261, VSP_026262; Name=3; IsoId=Q6P4E1-3; Sequence=VSP_026259, VSP_026260; Note=No experimental confirmation available.; Name=4; IsoId=Q6P4E1-4; Sequence=VSP_045243; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=Q6P4E1-5; Sequence=VSP_055228, VSP_045243; Note=No experimental confirmation available.; 


uniprotID: O60306
geneSymbol: AQR
reactome: R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-72163;
pdb: 4PJ3;5MQF;5XJC;5YZG;5Z56;5Z57;
name: RNA helicase aquarius (EC 3.6.4.13) (Intron-binding protein of 160 kDa) (IBP160)
length: 1485
go: ENSG00000021776;
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U2-type catalytic step 2 spliceosome [GO:0071007]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; transcription-coupled nucleotide-excision repair [GO:0006283]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:25599396, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}. Nucleus, nucleoplasm {ECO:0000269|PubMed:16949364}. Note=Localizes to speckle-like regions of the nucleoplasm. {ECO:0000269|PubMed:16949364}.


uniprotID: O43315
geneSymbol: AQP9
reactome: R-HSA-432030;R-HSA-432047;
name: Aquaporin-9 (AQP-9) (Aquaglyceroporin-9) (Small solute channel 1)
length: 295
go: ENSG00000103569;
snps: rs1867380
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; amine transmembrane transporter activity [GO:0005275]; carboxylic acid transmembrane transporter activity [GO:0046943]; glycerol channel activity [GO:0015254]; polyol transmembrane transporter activity [GO:0015166]; porin activity [GO:0015288]; purine nucleobase transmembrane transporter activity [GO:0005345]; pyrimidine nucleobase transmembrane transporter activity [GO:0005350]; urea channel activity [GO:0015265]; water channel activity [GO:0015250]; water transmembrane transporter activity [GO:0005372]; amine transport [GO:0015837]; canalicular bile acid transport [GO:0015722]; carboxylic acid transport [GO:0046942]; cellular response to cAMP [GO:0071320]; excretion [GO:0007588]; glycerol transport [GO:0015793]; immune response [GO:0006955]; polyol transport [GO:0015791]; purine nucleobase transport [GO:0006863]; pyrimidine nucleobase transport [GO:0015855]; response to mercury ion [GO:0046689]; response to organic substance [GO:0010033]; response to osmotic stress [GO:0006970]; water homeostasis [GO:0030104]; water transport [GO:0006833]


uniprotID: Q8N6S5
geneSymbol: ARL6IP6
length: 226
go: ENSG00000177917;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
ADP-ribosylation factor-like protein 6-interacting protein 6 (ARL-6-interacting protein 6) (Aip-6) (Phosphonoformate immuno-associated protein 1)

sequence:


uniprotID: P55087
geneSymbol: AQP4
reactome: R-HSA-432040;R-HSA-432047;
pdb: 3GD8;
name: Aquaporin-4 (AQP-4) (Mercurial-insensitive water channel) (MIWC) (WCH4)
length: 323
go: ENSG00000171885;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; water channel activity [GO:0015250]; water transmembrane transporter activity [GO:0005372]; cellular response to interferon-gamma [GO:0071346]; multicellular organismal water homeostasis [GO:0050891]; renal water homeostasis [GO:0003091]; water transport [GO:0006833]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=P55087-1; Sequence=Displayed; Name=1; IsoId=P55087-2; Sequence=VSP_003232; 


uniprotID: Q6UW56
geneSymbol: ATRAID
name: All-trans retinoic acid-induced differentiation factor (Apoptosis-related protein 3) (APR-3) (p18)
length: 229
go: ENSG00000138085;
snps: rs7437
sequence:

opentargets:
integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; nuclear envelope [GO:0005635]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; cell differentiation [GO:0030154]; negative regulation of cellular protein catabolic process [GO:1903363]; negative regulation of osteoblast proliferation [GO:0033689]; positive regulation of bone mineralization [GO:0030501]; positive regulation of osteoblast differentiation [GO:0045669]; regulation of gene expression [GO:0010468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UW56-1; Sequence=Displayed; Name=2; IsoId=Q6UW56-2; Sequence=VSP_014108; Note=Produced by alternative splicing of isoform 1. No experimental confirmation available.; Name=3; IsoId=Q6UW56-3; Sequence=VSP_037521; Note=Produced by alternative promoter usage.; 

location:
SUBCELLULAR LOCATION: Nucleus envelope {ECO:0000269|PubMed:21723284}. Cell membrane {ECO:0000269|PubMed:17524364}; Single-pass membrane protein {ECO:0000269|PubMed:17524364}. Note=Colocalizes with NELL1 on the nuclear envelope and the perinuclear region (PubMed:21723284).


uniprotID: Q8WWN8
geneSymbol: ARAP3
reactome: R-HSA-194840;
pdb: 2KG5;2LNW;5JCP;5JD0;
length: 1544
go: ENSG00000120318;
snps: rs1031904 rs61749636
name:
Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3 (Centaurin-delta-3) (Cnt-d3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; cytoskeleton organization [GO:0007010]; negative regulation of cell migration [GO:0030336]; negative regulation of Rho protein signal transduction [GO:0035024]; regulation of cell shape [GO:0008360]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WWN8-1; Sequence=Displayed; Name=2; IsoId=Q8WWN8-2; Sequence=VSP_056214, VSP_056215; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Cell projection, ruffle {ECO:0000250}. Note=Cytoplasmic, and associated with F-actin-rich membrane ruffles and lamellipodia. {ECO:0000250}.


uniprotID: Q8IWT0
geneSymbol: ZBTB8OS
reactome: R-HSA-6784531;
length: 167
name:
Protein archease (Protein ZBTB8OS) (Zinc finger and BTB domain-containing opposite strand protein 8)

sequence:
MAQEEEDVRDYNLTEEQKAIKAKYPPVNRKYEYLDHTADVQLHAWGDTLEEAFEQCAMAMFGYMTDTGTVEPLQTVEVETQGDDLQSLLFHFLDEWLYKFSADEFFIPREVKVLSIDQRNFKLRSIGWGEEFSLSKHPQGTEVKAITYSAMQVYNEENPEVFVIIDI

opentargets:
nucleoplasm [GO:0005654]; tRNA-splicing ligase complex [GO:0072669]; metal ion binding [GO:0046872]; tRNA splicing, via endonucleolytic cleavage and ligation [GO:0006388]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IWT0-1; Sequence=Displayed; Name=2; IsoId=Q8IWT0-2; Sequence=VSP_024926; 


uniprotID: P53367
geneSymbol: ARFIP1
name: Arfaptin-1 (ADP-ribosylation factor-interacting protein 1)
length: 373
go: ENSG00000164144;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; trans-Golgi network membrane [GO:0032588]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phospholipid binding [GO:0005543]; protein domain specific binding [GO:0019904]; intracellular protein transport [GO:0006886]; regulation of protein secretion [GO:0050708]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=B; Synonyms=1b; IsoId=P53367-1; Sequence=Displayed; Name=A; Synonyms=1a; IsoId=P53367-2; Sequence=VSP_004088; Name=3; IsoId=P53367-3; Sequence=VSP_057425; Note=No experimental confirmation available.; 


uniprotID: P31944
geneSymbol: CASP14
reactome: R-HSA-6809371;
length: 242
go: ENSG00000105141;
name:
Caspase-14 (CASP-14) (EC 3.4.22.-) [Cleaved into: Caspase-14 subunit p17, mature form; Caspase-14 subunit p10, mature form; Caspase-14 subunit p20, intermediate form; Caspase-14 subunit p8, intermediate form]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; keratin filament [GO:0045095]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; endopeptidase activity [GO:0004175]; apoptotic process [GO:0006915]; cornification [GO:0070268]; epidermis development [GO:0008544]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; keratinization [GO:0031424]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11175259, ECO:0000269|PubMed:12200134, ECO:0000269|PubMed:22825846}. Nucleus {ECO:0000269|PubMed:11175259}.


uniprotID: Q13795
geneSymbol: ARFRP1
reactome: R-HSA-6811440;
name: ADP-ribosylation factor-related protein 1 (ARF-related protein 1) (ARP)
length: 201
go: ENSG00000101246;
sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; gastrulation [GO:0007369]; Golgi to plasma membrane protein transport [GO:0043001]; intracellular protein transport [GO:0006886]; protein localization to Golgi apparatus [GO:0034067]; protein localization to organelle [GO:0033365]; retrograde transport, endosome to Golgi [GO:0042147]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13795-1; Sequence=Displayed; Name=2; IsoId=Q13795-2; Sequence=VSP_043531; Note=No experimental confirmation available.; Name=3; IsoId=Q13795-3; Sequence=VSP_057570; Name=4; IsoId=Q13795-4; Sequence=VSP_057571, VSP_057572; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:15077113}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:Q8BXL7}. Note=Located in the trans-Golgi in the GTP-bound active state. {ECO:0000250|UniProtKB:Q8BXL7}.


uniprotID: Q8N8R5
geneSymbol: C2orf69
name: UPF0565 protein C2orf69
length: 385
go: ENSG00000178074;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: A8MZ97
geneSymbol: C2orf74
name: Uncharacterized protein C2orf74
length: 194
go: ENSG00000237651;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MSLLAKPMSFETTAITFFIILLICLICILLLLVVFLYKCFQGRKGKETKKVPCTDANGGVDCAAAKVVTSNPEDHERILMQVMNLNVPMRPGILVQRQSKEVLATPLENRRDMEAEEENQINEKQEPENAGETGQEEDDGLQKIHTSVTRTPSVVESQKRPLKGVTFSREVIVVDLGNEYPTPRSYTREHKERK


uniprotID: Q53S99
geneSymbol: C2orf83
name: Folate transporter-like protein C2orf83
length: 150
go: ENSG00000042304;
snps: rs28739019 rs2138402
sequence:
MEDYALTFGINPFIALMIQPIVTMTVVDNQGLGLPVDIQHKAKPSPKASQMLPPDLGPPSFQNLLSPSEKLEPWDPGMRKLTVQTCGLTFIHPAGHGLCHPTAEASAETLSSTALNRPSVREGACNEKSTENKKPQDSVLWSHSRWFQGN

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; thiamine transmembrane transporter activity [GO:0015234]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53S99-1; Sequence=Displayed; Name=2; IsoId=Q53S99-2; Sequence=VSP_045403; Note=No experimental confirmation available.; 


uniprotID: A0A1B0GVN3
geneSymbol: C2orf92
name: Uncharacterized protein C2orf92 (Long intergenic non-protein coding RNA 1125)
length: 265
go: ENSG00000228486;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:


uniprotID: P80098
geneSymbol: CCL7
pdb: 1BO0;1NCV;4ZKC;
sequence: MKASAALLCLLLTAAAFSPQGLAQPVGINTSTTCCYRFINKKIPKQRLESYRRTTSSHCPREAVIFKTKLDKEICADPTQKWVQDFMKHLDKKTQTPKL
length: 99
go: ENSG00000108688;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 7 (Monocyte chemoattractant protein 3) (Monocyte chemotactic protein 3) (MCP-3) (NC28) (Small-inducible cytokine A7)

opentargets:
cell [GO:0005623]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; CCR1 chemokine receptor binding [GO:0031726]; CCR2 chemokine receptor binding [GO:0031727]; chemokine activity [GO:0008009]; heparin binding [GO:0008201]; cell-cell signaling [GO:0007267]; cellular calcium ion homeostasis [GO:0006874]; cellular response to ethanol [GO:0071361]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytoskeleton organization [GO:0007010]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of cell migration [GO:0030335]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of natural killer cell chemotaxis [GO:2000503]; regulation of cell shape [GO:0008360]; response to gamma radiation [GO:0010332]; signal transduction [GO:0007165]


uniprotID: Q9BSQ5
geneSymbol: CCM2
pdb: 4FQN;4TVQ;4WJ7;4Y5O;4YKC;4YKD;4YL6;
name: Cerebral cavernous malformations 2 protein (Malcavernin)
length: 444
go: ENSG00000136280;
snps: rs2107732 rs11552377 rs137852843 rs2289366
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; protein-containing complex [GO:0032991]; blood vessel endothelial cell differentiation [GO:0060837]; cell-cell junction organization [GO:0045216]; endothelial cell development [GO:0001885]; endothelial tube morphogenesis [GO:0061154]; in utero embryonic development [GO:0001701]; inner ear development [GO:0048839]; integrin-mediated signaling pathway [GO:0007229]; multicellular organism growth [GO:0035264]; pericardium development [GO:0060039]; stress-activated MAPK cascade [GO:0051403]; vasculogenesis [GO:0001570]; venous blood vessel morphogenesis [GO:0048845]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BSQ5-1; Sequence=Displayed; Name=2; IsoId=Q9BSQ5-2; Sequence=VSP_024402; Name=3; IsoId=Q9BSQ5-3; Sequence=VSP_046696; Note=Gene prediction based on EST data.; Name=4; IsoId=Q9BSQ5-4; Sequence=VSP_046695; Note=Gene prediction based on EST data.; 


uniprotID: O96020
geneSymbol: CCNE2
name: G1/S-specific cyclin-E2
length: 404
go: ENSG00000175305;
snps: rs28399585
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9840943}.
reactome:
R-HSA-1538133;R-HSA-187577;R-HSA-2559586;R-HSA-390471;R-HSA-6804116;R-HSA-69017;R-HSA-69200;R-HSA-69202;R-HSA-69563;

sequence:

opentargets:
centrosome [GO:0005813]; cyclin E2-CDK2 complex [GO:0097135]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; DNA replication initiation [GO:0006270]; G1/S transition of mitotic cell cycle [GO:0000082]; mitotic cell cycle [GO:0000278]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; regulation of cellular protein localization [GO:1903827]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]; synapsis [GO:0007129]; telomere maintenance [GO:0000723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=O96020-1; Sequence=Displayed; Name=Short; Synonyms=SV; IsoId=O96020-2; Sequence=VSP_001256; 


uniprotID: Q16589
geneSymbol: CCNG2
name: Cyclin-G2
length: 344
go: ENSG00000138764;
snps: rs4150050 rs4150051
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; mitotic cell cycle [GO:0000278]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; protein phosphorylation [GO:0006468]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16589-1; Sequence=Displayed; Name=2; IsoId=Q16589-2; Sequence=VSP_053893; Note=No experimental confirmation available.; 


uniprotID: P51946
geneSymbol: CCNH
pdb: 1JKW;1KXU;
name: Cyclin-H (MO15-associated protein) (p34) (p37)
length: 323
go: ENSG00000134480;
snps: rs2234942 rs3093785 rs2266691 rs2230641
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167160;R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-167200;R-HSA-167246;R-HSA-427413;R-HSA-5696395;R-HSA-674695;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-6796648;R-HSA-69202;R-HSA-69231;R-HSA-69273;R-HSA-69656;R-HSA-72086;R-HSA-73762;R-HSA-73772;R-HSA-73776;R-HSA-73777;R-HSA-73779;R-HSA-73863;R-HSA-75953;R-HSA-75955;R-HSA-76042;R-HSA-77075;R-HSA-8939236;

sequence:

opentargets:
cyclin-dependent protein kinase activating kinase holoenzyme complex [GO:0019907]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor TFIIH holo complex [GO:0005675]; transcription factor TFIIK complex [GO:0070985]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; kinase activity [GO:0016301]; 7-methylguanosine mRNA capping [GO:0006370]; cell cycle [GO:0007049]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of phosphorylation of RNA polymerase II C-terminal domain [GO:1901409]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription initiation from RNA polymerase I promoter [GO:0006361]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription-coupled nucleotide-excision repair [GO:0006283]


uniprotID: Q8ND76
geneSymbol: CCNY
name: Cyclin-Y (Cyc-Y) (Cyclin box protein 1) (Cyclin fold protein 1) (cyclin-X)
length: 341
go: ENSG00000108100;
sequence:

opentargets:
cytoplasmic cyclin-dependent protein kinase holoenzyme complex [GO:0000308]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; G2/M transition of mitotic cell cycle [GO:0000086]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; regulation of canonical Wnt signaling pathway [GO:0060828]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=b; IsoId=Q8ND76-1; Sequence=Displayed; Name=2; Synonyms=a; IsoId=Q8ND76-2; Sequence=VSP_014834; Name=3; IsoId=Q8ND76-3; Sequence=VSP_014833; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18060517, ECO:0000269|PubMed:19524571, ECO:0000269|PubMed:20059949, ECO:0000269|PubMed:22184064}; Lipid-anchor {ECO:0000269|PubMed:18060517, ECO:0000269|PubMed:19524571, ECO:0000269|PubMed:20059949, ECO:0000269|PubMed:22184064}; Cytoplasmic side {ECO:0000269|PubMed:18060517, ECO:0000269|PubMed:19524571, ECO:0000269|PubMed:20059949, ECO:0000269|PubMed:22184064}.; SUBCELLULAR LOCATION: Isoform 3: Nucleus.


uniprotID: Q86WX3
geneSymbol: RPS19BP1
reactome: R-HSA-3371453;
length: 136
go: ENSG00000187051;
snps: rs17001278
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:17964266}.
name:
Active regulator of SIRT1 (40S ribosomal protein S19-binding protein 1) (RPS19-binding protein 1) (S19BP)

sequence:
MSAALLRRGLELLAASEAPRDPPGQAKPRGAPVKRPRKTKAIQAQKLRNSAKGKVPKSALDEYRKRECRDHLRVNLKFLTRTRSTVAESVSQQILRQNRGRKACDRPVAKTKKKKAEGTVFTEEDFQKFQQEYFGS

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; enzyme binding [GO:0019899]; RNA binding [GO:0003723]


uniprotID: O15144
geneSymbol: ARPC2
reactome: R-HSA-2029482;R-HSA-3928662;R-HSA-5663213;R-HSA-8856828;
name: Actin-related protein 2/3 complex subunit 2 (Arp2/3 complex 34 kDa subunit) (p34-ARC)
length: 300
go: ENSG00000163466;
drug: DB08235;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; Arp2/3 protein complex [GO:0005885]; cytosol [GO:0005829]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; lamellipodium [GO:0030027]; muscle cell projection membrane [GO:0036195]; neuron projection [GO:0043005]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; actin filament binding [GO:0051015]; structural constituent of cytoskeleton [GO:0005200]; actin filament polymerization [GO:0030041]; actin polymerization-dependent cell motility [GO:0070358]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; ephrin receptor signaling pathway [GO:0048013]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; membrane organization [GO:0061024]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9230079}. Cell projection {ECO:0000269|PubMed:9230079}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q9CVB6}. Nucleus {ECO:0000269|PubMed:29925947}.


uniprotID: P61158
geneSymbol: ACTR3
reactome: R-HSA-2029482;R-HSA-3928662;R-HSA-5663213;R-HSA-8856828;
name: Actin-related protein 3 (Actin-like protein 3)
length: 418
go: ENSG00000115091;
drug: DB08235;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; Arp2/3 protein complex [GO:0005885]; brush border [GO:0005903]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; membrane [GO:0016020]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; actin binding [GO:0003779]; ATP binding [GO:0005524]; structural constituent of cytoskeleton [GO:0005200]; actin polymerization-dependent cell motility [GO:0070358]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; asymmetric cell division [GO:0008356]; cellular response to interferon-gamma [GO:0071346]; cilium assembly [GO:0060271]; ephrin receptor signaling pathway [GO:0048013]; establishment or maintenance of cell polarity [GO:0007163]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; meiotic chromosome movement towards spindle pole [GO:0016344]; meiotic cytokinesis [GO:0033206]; membrane organization [GO:0061024]; positive regulation of transcription by RNA polymerase II [GO:0045944]; spindle localization [GO:0051653]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19109554}. Cell projection {ECO:0000269|PubMed:9230079}. Nucleus {ECO:0000269|PubMed:16767080, ECO:0000269|PubMed:17220302, ECO:0000269|PubMed:29925947}. Note=In pre-apoptotic cells, colocalizes with MEFV in large specks (pyroptosomes) (PubMed:19109554).


uniprotID: O00421
geneSymbol: CCRL2
reactome: R-HSA-380108;
length: 344
go: ENSG00000121797;
snps: rs11574443 rs3204849 rs6441977 rs3204850
name:
C-C chemokine receptor-like 2 (Chemokine receptor CCR11) (Chemokine receptor X) (Putative MCP-1 chemokine receptor)

sequence:

opentargets:
cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; CCR chemokine receptor binding [GO:0048020]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; chemokine receptor binding [GO:0042379]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; positive regulation of cytosolic calcium ion concentration [GO:0007204]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CRAM-B; IsoId=O00421-1; Sequence=Displayed; Name=2; Synonyms=CRAM-A; IsoId=O00421-2; Sequence=VSP_018584; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18397265, ECO:0000269|PubMed:20002784}; Multi-pass membrane protein {ECO:0000269|PubMed:18397265, ECO:0000269|PubMed:20002784}.


uniprotID: Q6IQ19
geneSymbol: CCSAP
name: Centriole, cilia and spindle-associated protein
length: 270
go: ENSG00000154429;
snps: rs6587326
sequence:

opentargets:
axon [GO:0030424]; axoneme [GO:0005930]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary transition zone [GO:0035869]; cilium [GO:0005929]; mitotic spindle [GO:0072686]; mitotic spindle astral microtubule [GO:0061673]; spindle [GO:0005819]; microtubule binding [GO:0008017]; cell cycle [GO:0007049]; cell division [GO:0051301]; mitotic spindle microtubule depolymerization [GO:1990755]; multicellular organism development [GO:0007275]; regulation of cilium beat frequency involved in ciliary motility [GO:0060296]; regulation of embryonic development [GO:0045995]; regulation of mitotic spindle assembly [GO:1901673]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6IQ19-1; Sequence=Displayed; Name=2; IsoId=Q6IQ19-2; Sequence=VSP_024582, VSP_024583; Note=No experimental confirmation available.; Name=3; IsoId=Q6IQ19-3; Sequence=VSP_024585, VSP_024586; Note=No experimental confirmation available.; Name=4; IsoId=Q6IQ19-4; Sequence=VSP_024584, VSP_024587; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:22493317}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:22493317, ECO:0000269|PubMed:26562023}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:22493317}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:22493317}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:22493317}. Cell projection, axon {ECO:0000269|PubMed:22493317}. Cell projection, cilium {ECO:0000269|PubMed:22493317}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:26562023}. Note=Localizes to two to four centrioles throughout the cell cycle. Localizes to mitotic spindle microtubules during prometaphase and throughout the remainder of mitosis. Localizes to cytoskeleton on interphase. Localizes at the ciliary transition zone which connects the basal bodies to ciliary microtubules. Colocalizes with polyglutamylated tubulin. {ECO:0000269|PubMed:22493317, ECO:0000269|PubMed:26562023}.


uniprotID: P51690
geneSymbol: ARSE
reactome: R-HSA-1660662;R-HSA-1663150;
name: Arylsulfatase E (ASE) (EC 3.1.6.-)
length: 589
go: ENSG00000157399;
location: SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi stack [GO:0005795]; arylsulfatase activity [GO:0004065]; metal ion binding [GO:0046872]; skeletal system development [GO:0001501]

snps:
rs122460151 rs122460153 rs122460152 rs80338711 rs34412194 rs122460154 rs35143646 rs80338713 rs122460155 rs28935474 


uniprotID: P54793
geneSymbol: ARSF
reactome: R-HSA-1660662;R-HSA-1663150;
name: Arylsulfatase F (ASF) (EC 3.1.6.-)
length: 590
go: ENSG00000062096;
snps: rs1052638
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; arylsulfatase activity [GO:0004065]; metal ion binding [GO:0046872]


uniprotID: Q96EG1
geneSymbol: ARSG
reactome: R-HSA-1660662;R-HSA-1663150;
name: Arylsulfatase G (ASG) (EC 3.1.6.-)
length: 525
go: ENSG00000141337;
snps: rs8074806 rs1558876 rs1558878 rs144503106 rs9972951 rs11657051 rs62000424 rs370852507 rs61999318
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular space [GO:0005615]; lysosome [GO:0005764]; arylsulfatase activity [GO:0004065]; metal ion binding [GO:0046872]; sulfur compound metabolic process [GO:0006790]

location:
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:12461688, ECO:0000269|PubMed:18283100}. Note=Previously observed endoplasmic reticulum localization is most likely due to folding/maturation problems for overexpressed proteins.


uniprotID: Q5FYB1
geneSymbol: ARSI
reactome: R-HSA-1660662;R-HSA-1663150;
name: Arylsulfatase I (ASI) (EC 3.1.6.-)
length: 569
go: ENSG00000183876;
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; arylsulfatase activity [GO:0004065]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5FYB1-1; Sequence=Displayed; Name=2; IsoId=Q5FYB1-2; Sequence=VSP_036022; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19262745}. Endoplasmic reticulum {ECO:0000269|PubMed:19262745}. Note=Localized in the intracellular granular structures.


uniprotID: Q5T4W7
geneSymbol: ARTN
reactome: R-HSA-419037;R-HSA-5673001;R-HSA-8853659;
pdb: 2ASK;2GH0;2GYR;2GYZ;
name: Artemin (Enovin) (Neublastin)
length: 220
go: ENSG00000117407;
snps: rs2242637
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; growth factor activity [GO:0008083]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor binding [GO:0005102]; axon guidance [GO:0007411]; induction of positive chemotaxis [GO:0050930]; lymphocyte migration into lymphoid organs [GO:0097021]; MAPK cascade [GO:0000165]; neuroblast proliferation [GO:0007405]; peripheral nervous system development [GO:0007422]; Peyer's patch morphogenesis [GO:0061146]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T4W7-1; Sequence=Displayed; Name=2; IsoId=Q5T4W7-2; Sequence=VSP_019335; Name=3; IsoId=Q5T4W7-3; Sequence=VSP_019336; 


uniprotID: Q9C0I3
geneSymbol: CCSER1
name: Serine-rich coiled-coil domain-containing protein 1 (Coiled-coil serine-rich protein 1)
length: 900
go: ENSG00000184305;
snps: rs12647859
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C0I3-1; Sequence=Displayed; Name=2; IsoId=Q9C0I3-2; Sequence=VSP_035318, VSP_035319; Note=No experimental confirmation available.; 


uniprotID: P10523
geneSymbol: SAG
reactome: R-HSA-2485179;R-HSA-2514859;
name: S-arrestin (48 kDa protein) (Retinal S-antigen) (S-AG) (Rod photoreceptor arrestin)
length: 405
go: ENSG00000130561;
snps: rs7565275 rs115857633 rs137886124 rs112613526 rs200602069 rs1427707173 rs1046976 rs1046974
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; opsin binding [GO:0002046]; phosphoprotein binding [GO:0051219]; protein phosphatase inhibitor activity [GO:0004864]; cell surface receptor signaling pathway [GO:0007166]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; rhodopsin mediated signaling pathway [GO:0016056]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:3720866}. Membrane {ECO:0000250|UniProtKB:P20443}; Peripheral membrane protein {ECO:0000250|UniProtKB:P20443}. Note=Highly expressed in photoreceptor outer segments in light-exposed retina. Evenly distributed throughout rod photoreceptor cells in dark-adapted retina (By similarity). Predominantly dectected at the proximal region of photoreceptor outer segments, near disk membranes (PubMed:3720866). {ECO:0000250|UniProtKB:P08168, ECO:0000269|PubMed:3720866}.


uniprotID: Q9H1I8
geneSymbol: ASCC2
reactome: R-HSA-112126;
pdb: 2DI0;
length: 757
go: ENSG00000100325;
snps: rs1894473 rs11549795 rs28265 rs36571 rs4823054 rs34833047 rs34062345 rs6006259
name:
Activating signal cointegrator 1 complex subunit 2 (ASC-1 complex subunit p100) (Trip4 complex subunit p100)

sequence:

opentargets:
activating signal cointegrator 1 complex [GO:0099053]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA dealkylation involved in DNA repair [GO:0006307]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H1I8-1; Sequence=Displayed; Name=2; IsoId=Q9H1I8-2; Sequence=VSP_011009, VSP_011010, VSP_011011; Note=No experimental confirmation available.; Name=3; IsoId=Q9H1I8-3; Sequence=VSP_045878, VSP_045879; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12077347, ECO:0000269|PubMed:26924529, ECO:0000269|PubMed:29144457}. Nucleus speckle {ECO:0000269|PubMed:29144457, ECO:0000269|PubMed:29997253}. Note=Colocalizes with the spliceosomal components PRPF8 and SNRNP200/BRR2 in nuclear foci when cells have been exposed to alkylating agents that cause DNA damage. Colocalizes with RNF113A and 'Lys-63'-linked polyubiquitinated proteins, ALKBH3 and ASCC3 in nuclear foci when cells have been exposed to alkylating agents that cause DNA damage. {ECO:0000269|PubMed:29144457}.


uniprotID: Q8WXH4
geneSymbol: ASB11
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 4UUC;
name: Ankyrin repeat and SOCS box protein 11 (ASB-11)
length: 323
go: ENSG00000165192;
snps: rs144572145 rs34025595 rs35859007
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; intracellular signal transduction [GO:0035556]; positive regulation of protein catabolic process [GO:0045732]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WXH4-1; Sequence=Displayed; Name=2; IsoId=Q8WXH4-2; Sequence=VSP_043087; Note=No experimental confirmation available.; Name=3; IsoId=Q8WXH4-3; Sequence=VSP_047127; Note=Gene prediction based on EST data.; 


uniprotID: Q9UHC3
geneSymbol: ASIC3
reactome: R-HSA-2672351;
length: 531
go: ENSG00000213199;
drug: DB08838;
snps: rs1864545
name:
Acid-sensing ion channel 3 (ASIC3) (hASIC3) (Amiloride-sensitive cation channel 3) (Neuronal amiloride-sensitive cation channel 3) (Testis sodium channel 1) (hTNaC1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; acid-sensing ion channel activity [GO:0044736]; cation channel activity [GO:0005261]; enterobactin transmembrane transporter activity [GO:0042931]; sodium channel activity [GO:0005272]; detection of chemical stimulus involved in sensory perception of pain [GO:0050968]; detection of mechanical stimulus involved in sensory perception of pain [GO:0050966]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; ion transmembrane transport [GO:0034220]; response to acidic pH [GO:0010447]; response to heat [GO:0009408]; sensory perception [GO:0007600]; sensory perception of sour taste [GO:0050915]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UHC3-1; Sequence=Displayed; Name=2; Synonyms=ASIC3b; IsoId=Q9UHC3-2; Sequence=VSP_015602; Name=3; Synonyms=ASIC3c; IsoId=Q9UHC3-3; Sequence=VSP_015603; Name=4; Synonyms=c; IsoId=Q9UHC3-4; Sequence=VSP_015600, VSP_015601; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Cell surface expression may be stabilized by interaction with LIN7B and cytoplasmic retention by interaction with DLG4. In part cytoplasmic in cochlea cells (By similarity). {ECO:0000250}.


uniprotID: P86790
geneSymbol: CCZ1B
reactome: R-HSA-8876198;
name: Vacuolar fusion protein CCZ1 homolog B (Vacuolar fusion protein CCZ1 homolog-like)
length: 482
go: ENSG00000122674;
location: SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17897319}.
sequence:

opentargets:
aggresome [GO:0016235]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; Mon1-Ccz1 complex [GO:0035658]; vesicle-mediated transport [GO:0016192]


uniprotID: Q96L96
geneSymbol: ALPK3
name: Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha-protein kinase)
length: 1907
go: ENSG00000136383;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q924C5}.
sequence:

opentargets:
nucleus [GO:0005634]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; cardiac muscle cell development [GO:0055013]; heart development [GO:0007507]

snps:
rs34407151 rs56015306 rs3803403 rs3803405 rs55702300 rs34409363 rs16974569 rs34906636 rs56191073 rs35633849 rs34173528 rs306197 rs55752937 rs34775428 rs187316 rs36002219 


uniprotID: Q9BXJ7
geneSymbol: AMN
reactome: R-HSA-196741;R-HSA-3359462;R-HSA-3359463;R-HSA-8964011;
name: Protein amnionless
length: 453
go: ENSG00000166126;
drug: DB00115;DB00200;
snps: rs119478058
sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; clathrin-coated pit [GO:0005905]; endocytic vesicle [GO:0030139]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; signaling receptor binding [GO:0005102]; cobalamin metabolic process [GO:0009235]; cobalamin transport [GO:0015889]; excretion [GO:0007588]; Golgi to plasma membrane protein transport [GO:0043001]; high-density lipoprotein particle clearance [GO:0034384]; multicellular organism development [GO:0007275]; receptor-mediated endocytosis [GO:0006898]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=1;  Comment=At least 5 isoforms, 1, 2, 3, 4 and 5, are produced.; Name=1; IsoId=Q9BXJ7-1; Sequence=Displayed; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:Q99JB7}; Single-pass type I membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:14576052}; Peripheral membrane protein {ECO:0000305}. Endosome {ECO:0000305|PubMed:14576052}. Membrane, coated pit {ECO:0000305|PubMed:14576052}.


uniprotID: P19961
geneSymbol: AMY2B
reactome: R-HSA-189085;
name: Alpha-amylase 2B (EC 3.2.1.1) (1,4-alpha-D-glucan glucanohydrolase 2B) (Carcinoid alpha-amylase)
length: 511
go: ENSG00000240038;
drug: DB02730;DB03092;DB03277;DB02379;DB03323;DB04417;DB03088;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; alpha-amylase activity [GO:0004556]; alpha-amylase activity (releasing maltohexaose) [GO:0103025]; metal ion binding [GO:0046872]; carbohydrate metabolic process [GO:0005975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P19961-1; Sequence=Displayed; Name=2; IsoId=P19961-2; Sequence=VSP_056932, VSP_056933; Note=No experimental confirmation available.; 


uniprotID: Q9Y264
geneSymbol: ANGPT4
reactome: R-HSA-210993;
name: Angiopoietin-4 (ANG-4) (Angiopoietin-3) (ANG-3)
length: 503
go: ENSG00000101280;
snps: rs869171
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; receptor tyrosine kinase binding [GO:0030971]; transmembrane receptor protein tyrosine kinase activator activity [GO:0030297]; angiogenesis [GO:0001525]; cellular response to hypoxia [GO:0071456]; leukocyte migration [GO:0050900]; negative regulation of angiogenesis [GO:0016525]; negative regulation of apoptotic process [GO:0043066]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; Notch signaling pathway [GO:0007219]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y264-1; Sequence=Displayed; Name=2; IsoId=Q9Y264-2; Sequence=VSP_055091; Note=No experimental confirmation available.; 


uniprotID: Q99873
geneSymbol: PRMT1
reactome: R-HSA-3214858;R-HSA-6804114;R-HSA-8936459;R-HSA-9018519;
length: 371
go: ENSG00000126457;
drug: DB01752;
snps: rs1804486 rs11673683
name:
Protein arginine N-methyltransferase 1 (EC 2.1.1.319) (Histone-arginine N-methyltransferase PRMT1) (Interferon receptor 1-bound protein 4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; methylosome [GO:0034709]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; enzyme binding [GO:0019899]; histone methyltransferase activity [GO:0042054]; histone methyltransferase activity (H4-R3 specific) [GO:0044020]; histone-arginine N-methyltransferase activity [GO:0008469]; identical protein binding [GO:0042802]; methyl-CpG binding [GO:0008327]; methyltransferase activity [GO:0008168]; mitogen-activated protein kinase p38 binding [GO:0048273]; N-methyltransferase activity [GO:0008170]; protein methyltransferase activity [GO:0008276]; protein-arginine N-methyltransferase activity [GO:0016274]; protein-arginine omega-N asymmetric methyltransferase activity [GO:0035242]; protein-arginine omega-N monomethyltransferase activity [GO:0035241]; RNA binding [GO:0003723]; S-adenosyl-L-methionine binding [GO:1904047]; cell surface receptor signaling pathway [GO:0007166]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; histone arginine methylation [GO:0034969]; histone H4-R3 methylation [GO:0043985]; histone methylation [GO:0016571]; in utero embryonic development [GO:0001701]; negative regulation of megakaryocyte differentiation [GO:0045653]; neuron projection development [GO:0031175]; peptidyl-arginine methylation [GO:0018216]; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine [GO:0019919]; positive regulation of cell proliferation [GO:0008284]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of hemoglobin biosynthetic process [GO:0046985]; positive regulation of p38MAPK cascade [GO:1900745]; protein homooligomerization [GO:0051260]; protein methylation [GO:0006479]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=V2; IsoId=Q99873-1; Sequence=Displayed; Name=2; Synonyms=V3; IsoId=Q99873-2; Sequence=VSP_005208; Name=3; Synonyms=V1; IsoId=Q99873-3; Sequence=VSP_005209; Name=4; IsoId=Q99873-5; Sequence=VSP_059419, VSP_059420; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19136629}. Nucleus, nucleoplasm {ECO:0000250|UniProtKB:Q9JIF0}. Cytoplasm {ECO:0000269|PubMed:26876602}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9JIF0}. Note=Mostly found in the cytoplasm. Colocalizes with CHTOP within the nucleus. Low levels detected also in the chromatin fraction (By similarity). {ECO:0000250|UniProtKB:Q9JIF0}.


uniprotID: Q6UW01
geneSymbol: CBLN3
name: Cerebellin-3
length: 205
go: ENSG00000139899;
sequence:

opentargets:
cell junction [GO:0030054]; endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; synapse [GO:0045202]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250}. Golgi apparatus, cis-Golgi network {ECO:0000250}. Secreted {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=In the absence of CBLN1, remains in the endoplasmic reticulum/cis-Golgi apparatus. Partial secretion depends on an association with CBLN1 and maybe CBLN4, but not on CBLN2 (By similarity). {ECO:0000250}.


uniprotID: Q9NTU7
geneSymbol: CBLN4
name: Cerebellin-4 (Cerebellin-like glycoprotein 1)
length: 201
go: ENSG00000054803;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}. Cell junction, synapse {ECO:0000250}.
sequence:

opentargets:
cell junction [GO:0030054]; extracellular space [GO:0005615]; synapse [GO:0045202]; protein secretion [GO:0009306]


uniprotID: Q9BR77
geneSymbol: CCDC77
name: Coiled-coil domain-containing protein 77
length: 488
go: ENSG00000120647;
opentargets: centrosome [GO:0005813]; membrane [GO:0016020]
snps: rs4980895 rs735295
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BR77-1; Sequence=Displayed; Name=2; IsoId=Q9BR77-2; Sequence=VSP_043135; Note=No experimental confirmation available.; 


uniprotID: A2IDD5
geneSymbol: CCDC78
name: Coiled-coil domain-containing protein 78 (hsCCDC78)
length: 438
go: ENSG00000162004;
snps: rs2071950
sequence:

opentargets:
centriole [GO:0005814]; deuterosome [GO:0098536]; perinuclear region of cytoplasm [GO:0048471]; sarcolemma [GO:0042383]; sarcoplasmic reticulum [GO:0016529]; cell projection organization [GO:0030030]; de novo centriole assembly involved in multi-ciliated epithelial cell differentiation [GO:0098535]; skeletal muscle contraction [GO:0003009]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=A2IDD5-1; Sequence=Displayed; Name=2; IsoId=A2IDD5-2; Sequence=VSP_026256; Name=3; IsoId=A2IDD5-3; Sequence=VSP_026254, VSP_026258; Note=Due to intron retention.; Name=4; IsoId=A2IDD5-4; Sequence=VSP_026255, VSP_026257; Note=Due to intron retention.; Name=5; IsoId=A2IDD5-5; Sequence=VSP_026252, VSP_026254, VSP_026258; Note=Due to intron retention.; Name=6; IsoId=A2IDD5-6; Sequence=VSP_026253, VSP_026254, VSP_026258; Note=Due to intron retention.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, perinuclear region. Cell membrane, sarcolemma. Sarcoplasmic reticulum. Note=Localizes to centrioles and deuterosome. Found primarily in the perinuclear region as well as along the sarcolemmal membrane and in reticular pattern within the sarcoplasm.


uniprotID: Q9H6F5
geneSymbol: CCDC86
name: Coiled-coil domain-containing protein 86 (Cytokine-induced protein with coiled-coil domain)
length: 360
go: ENSG00000110104;
opentargets: nucleolus [GO:0005730]; nucleus [GO:0005634]; RNA binding [GO:0003723]; viral process [GO:0016032]
snps: rs2074421
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H6F5-1; Sequence=Displayed; Name=2; IsoId=Q9H6F5-2; Sequence=VSP_056905; Note=No experimental confirmation available.; 


uniprotID: Q7Z6B0
geneSymbol: CCDC91
pdb: 1OM9;
name: Coiled-coil domain-containing protein 91 (GGA-binding partner) (p56 accessory protein)
length: 441
go: ENSG00000123106;
snps: rs1133028 rs10771427
sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; trans-Golgi network [GO:0005802]; identical protein binding [GO:0042802]; Golgi to lysosome transport [GO:0090160]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z6B0-1; Sequence=Displayed; Note=Binds GGAs.; Name=2; IsoId=Q7Z6B0-2; Sequence=VSP_013243; Note=Does not bind GGAs.; Name=3; IsoId=Q7Z6B0-3; Sequence=VSP_013244; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:12808037}; Peripheral membrane protein {ECO:0000269|PubMed:12808037}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:12808037}; Peripheral membrane protein {ECO:0000269|PubMed:12808037}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:17596511}. Note=Colocalizes with GGA1, GGA2 and GGA3. {ECO:0000269|PubMed:12808037, ECO:0000269|PubMed:17596511}.


uniprotID: Q6ZUT6
geneSymbol: CCDC9B
name: Coiled-coil domain-containing protein 9B
length: 534
go: ENSG00000188549;
opentargets: RNA binding [GO:0003723]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6ZUT6-1; Sequence=Displayed; Name=2; IsoId=Q6ZUT6-2; Sequence=VSP_027037, VSP_027040; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZUT6-3; Sequence=VSP_027038, VSP_027039, VSP_027041, VSP_027042; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZUT6-4; Sequence=VSP_027038, VSP_027039; Note=No experimental confirmation available.; 


uniprotID: O95273
geneSymbol: CCNDBP1
pdb: 3AY5;
name: Cyclin-D1-binding protein 1 (Grap2 and cyclin-D-interacting protein) (Human homolog of Maid)
length: 360
go: ENSG00000166946;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cell cycle [GO:0007049]; regulation of cell cycle [GO:0051726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O95273-1; Sequence=Displayed; Name=2; IsoId=O95273-2; Sequence=VSP_032014, VSP_032015; Note=No experimental confirmation available.; Name=3; IsoId=O95273-3; Sequence=VSP_032012; Name=4; IsoId=O95273-4; Sequence=VSP_032012, VSP_032013, VSP_032016; Note=No experimental confirmation available.; 


uniprotID: Q16204
geneSymbol: CCDC6
name: Coiled-coil domain-containing protein 6 (Papillary thyroid carcinoma-encoded protein) (Protein H4)
length: 474
go: ENSG00000108091;
snps: rs1053266
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; SH3 domain binding [GO:0017124]; structural constituent of cytoskeleton [GO:0005200]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton {ECO:0000305}. Note=May be a cytoskeletal protein.


uniprotID: Q96M83
geneSymbol: CCDC7
name: Coiled-coil domain-containing protein 7 (Protein BIOT2)
length: 1385
go: ENSG00000216937;
snps: rs56391924 rs12268559 rs4448627 rs2504011 rs1418538
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96M83-1; Sequence=Displayed; Name=2; IsoId=Q96M83-2; Sequence=VSP_010525, VSP_010526; 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=Q96M83-3; Sequence=VSP_058369, VSP_058370; Note=No experimental confirmation available.; Name=4; IsoId=Q96M83-4; Sequence=VSP_058367, VSP_058368; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; IsoId=Q96M83-5; Sequence=VSP_058366, VSP_058371; 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.; 


uniprotID: Q9Y698
geneSymbol: CACNG2
reactome: R-HSA-112308;R-HSA-399719;R-HSA-5576892;R-HSA-5576893;R-HSA-5682910;
pdb: 6DLZ;6DM0;6DM1;6DM2;
length: 323
go: ENSG00000166862;
drug: DB00898;
name:
Voltage-dependent calcium channel gamma-2 subunit (Neuronal voltage-gated calcium channel gamma-2 subunit) (Transmembrane AMPAR regulatory protein gamma-2) (TARP gamma-2)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; cell surface [GO:0009986]; cerebellar mossy fiber [GO:0044300]; cytosol [GO:0005829]; endocytic vesicle membrane [GO:0030666]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; Schaffer collateral - CA1 synapse [GO:0098685]; somatodendritic compartment [GO:0036477]; voltage-gated calcium channel complex [GO:0005891]; calcium channel activity [GO:0005262]; channel regulator activity [GO:0016247]; ionotropic glutamate receptor binding [GO:0035255]; voltage-gated calcium channel activity [GO:0005245]; eye blink reflex [GO:0060082]; membrane depolarization [GO:0051899]; membrane hyperpolarization [GO:0060081]; neuromuscular junction development [GO:0007528]; neurotransmitter receptor internalization [GO:0099590]; neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0099645]; neurotransmitter receptor transport, postsynaptic endosome to lysosome [GO:0098943]; positive regulation of AMPA receptor activity [GO:2000969]; positive regulation of protein localization to basolateral plasma membrane [GO:1904510]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; postsynaptic neurotransmitter receptor diffusion trapping [GO:0098970]; protein targeting to membrane [GO:0006612]; regulation of AMPA receptor activity [GO:2000311]; response to calcium ion [GO:0051592]; transmission of nerve impulse [GO:0019226]

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q71RJ2}.


uniprotID: Q9UBN1
geneSymbol: CACNG4
reactome: R-HSA-112308;R-HSA-399719;R-HSA-5576892;R-HSA-5576893;R-HSA-5682910;
length: 327
go: ENSG00000075461;
name:
Voltage-dependent calcium channel gamma-4 subunit (Neuronal voltage-gated calcium channel gamma-4 subunit) (Transmembrane AMPAR regulatory protein gamma-4) (TARP gamma-4)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell body [GO:0044297]; cell surface [GO:0009986]; endocytic vesicle membrane [GO:0030666]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; L-type voltage-gated calcium channel complex [GO:1990454]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; somatodendritic compartment [GO:0036477]; calcium channel activity [GO:0005262]; calcium channel regulator activity [GO:0005246]; channel regulator activity [GO:0016247]; ionotropic glutamate receptor binding [GO:0035255]; voltage-gated calcium channel activity [GO:0005245]; membrane depolarization [GO:0051899]; neurotransmitter receptor internalization [GO:0099590]; neurotransmitter receptor transport, postsynaptic endosome to lysosome [GO:0098943]; positive regulation of AMPA receptor activity [GO:2000969]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; postsynaptic neurotransmitter receptor diffusion trapping [GO:0098970]; regulation of AMPA receptor activity [GO:2000311]; regulation of postsynaptic neurotransmitter receptor activity [GO:0098962]; response to cocaine [GO:0042220]; transmission of nerve impulse [GO:0019226]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:21127204}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: P62955
geneSymbol: CACNG7
reactome: R-HSA-5576892;R-HSA-5576893;
length: 275
go: ENSG00000105605;
name:
Voltage-dependent calcium channel gamma-7 subunit (Neuronal voltage-gated calcium channel gamma-7 subunit) (Transmembrane AMPAR regulatory protein gamma-7) (TARP gamma-7)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cerebellar mossy fiber [GO:0044300]; early endosome [GO:0005769]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; L-type voltage-gated calcium channel complex [GO:1990454]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; voltage-gated calcium channel complex [GO:0005891]; calcium channel regulator activity [GO:0005246]; channel regulator activity [GO:0016247]; voltage-gated calcium channel activity [GO:0005245]; calcium ion transport [GO:0006816]; neurotransmitter receptor internalization [GO:0099590]; neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0099645]; neurotransmitter receptor transport, postsynaptic endosome to lysosome [GO:0098943]; positive regulation of dendrite extension [GO:1903861]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; postsynaptic neurotransmitter receptor diffusion trapping [GO:0098970]; regulation of AMPA receptor activity [GO:2000311]; regulation of mRNA stability [GO:0043488]; transmission of nerve impulse [GO:0019226]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:21127204}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: P06307
geneSymbol: CCK
reactome: R-HSA-375276;R-HSA-416476;
length: 115
go: ENSG00000187094;
snps: rs11571848 rs3774395
location: SUBCELLULAR LOCATION: Secreted.
name:
Cholecystokinin (CCK) [Cleaved into: Cholecystokinin-58 (CCK58); Cholecystokinin-58 desnonopeptide ((1-49)-CCK58); Cholecystokinin-39 (CCK39); Cholecystokinin-33 (CCK33); Cholecystokinin-25 (CCK25); Cholecystokinin-18 (CCK18); Cholecystokinin-12 (CCK12); Cholecystokinin-8 (CCK8); Cholecystokinin-7 (CCK7); Cholecystokinin-5 (CCK5)]

sequence:
MNSGVCLCVLMAVLAAGALTQPVPPADPAGSGLQRAEEAPRRQLRVSQRTDGESRAHLGALLARYIQQARKAPSGRMSIVKNLQNLDPSHRISDRDYMGWMDFGRRSAEEYEYPS

opentargets:
axon [GO:0030424]; axon hillock [GO:0043203]; axon initial segment [GO:0043194]; dendrite [GO:0030425]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; perikaryon [GO:0043204]; terminal bouton [GO:0043195]; hormone activity [GO:0005179]; neuropeptide hormone activity [GO:0005184]; peptide hormone receptor binding [GO:0051428]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; axonogenesis [GO:0007409]; digestion [GO:0007586]; eating behavior [GO:0042755]; G protein-coupled receptor signaling pathway [GO:0007186]; memory [GO:0007613]; negative regulation of appetite [GO:0032099]; negative regulation of behavioral fear response [GO:2000986]; negative regulation of eating behavior [GO:1903999]; neuron migration [GO:0001764]; positive regulation of behavioral fear response [GO:2000987]; positive regulation of cell proliferation [GO:0008284]; positive regulation of glutamate secretion [GO:0014049]; positive regulation of mitochondrial depolarization [GO:0051901]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein oligomerization [GO:0032461]; positive regulation of sensory perception of pain [GO:1904058]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; release of cytochrome c from mitochondria [GO:0001836]; signal transduction [GO:0007165]; visual learning [GO:0008542]


uniprotID: P55773
geneSymbol: CCL23
reactome: R-HSA-416476;R-HSA-418594;R-HSA-444473;
pdb: 1G91;
length: 120
snps: rs1003645
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 23 (CK-beta-8) (CKB-8) (Macrophage inflammatory protein 3) (MIP-3) (Myeloid progenitor inhibitory factor 1) (MPIF-1) (Small-inducible cytokine A23) [Cleaved into: CCL23(19-99); CCL23(22-99); CCL23(27-99); CCL23(30-99)]

sequence:
MKVSVAALSCLMLVTALGSQARVTKDAETEFMMSKLPLENPVLLDRFHATSADCCISYTPRSIPCSLLESYFETNSECSKPGVIFLTKKGRRFCANPSDKQVQVCVRMLKLDTRIKTRKN

opentargets:
cell [GO:0005623]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; CCR1 chemokine receptor binding [GO:0031726]; chemokine activity [GO:0008009]; heparin binding [GO:0008201]; cell-cell signaling [GO:0007267]; cellular calcium ion homeostasis [GO:0006874]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; negative regulation of C-C chemokine binding [GO:2001264]; negative regulation of cell proliferation [GO:0008285]; neutrophil chemotaxis [GO:0030593]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Short; Synonyms=CKB-8; IsoId=P55773-1; Sequence=Displayed; Name=Long; Synonyms=CKB-8-1; IsoId=P55773-2; Sequence=VSP_001063; 


uniprotID: Q9Y258
geneSymbol: CCL26
pdb: 1G2S;1G2T;
sequence: MMGLSLASAVLLASLLSLHLGTATRGSDISKTCCFQYSHKPLPWTWVRSYEFTSNSCSQRAVIFTTKRGKKVCTHPRKKWVQKYISLLKTPKQL
length: 94
go: ENSG00000006606;
snps: rs11465333
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10488147}.
name:
C-C motif chemokine 26 (CC chemokine IMAC) (Eotaxin-3) (Macrophage inflammatory protein 4-alpha) (MIP-4-alpha) (Small-inducible cytokine A26) (Thymic stroma chemokine-1) (TSC-1)

opentargets:
extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; CCR3 chemokine receptor binding [GO:0031728]; chemokine activity [GO:0008009]; receptor ligand activity [GO:0048018]; cell-cell signaling [GO:0007267]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell migration [GO:0030335]; positive regulation of chemotaxis [GO:0050921]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; signal transduction [GO:0007165]; T cell chemotaxis [GO:0010818]


uniprotID: Q9Y4X3
geneSymbol: CCL27
reactome: R-HSA-380108;R-HSA-418594;
pdb: 2KUM;
length: 112
go: ENSG00000213927;
snps: rs11575594 rs11575584
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q9Z1X0}.
name:
C-C motif chemokine 27 (CC chemokine ILC) (Cutaneous T-cell-attracting chemokine) (CTACK) (ESkine) (IL-11 R-alpha-locus chemokine) (Skinkine) (Small-inducible cytokine A27)

sequence:
MKGPPTFCSLLLLSLLLSPDPTAAFLLPPSTACCTQLYRKPLSDKLLRKVIQVELQEADGDCHLQAFVLHLAQRSICIHPQNPSLSQWFEHQERKLHGTLPKLNFGMLRKMG

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR3 chemokine receptor binding [GO:0031728]; chemokine activity [GO:0008009]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell-cell signaling [GO:0007267]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; killing of cells of other organism [GO:0031640]


uniprotID: P13236
geneSymbol: CCL4
reactome: R-HSA-418594;R-HSA-6783783;
pdb: 1HUM;1HUN;1JE4;2FFK;2FIN;2X6L;3TN2;4RAL;
sequence: MKLCVTVLSLLMLVAAFCSPALSAPMGSDPPTACCFSYTARKLPRNFVVDYYETSSLCSQPAVVFQTKRSKQVCADPSESWVQEYVYDLELN
length: 92
go: ENSG00000275302;
snps: rs1049752 rs1130750 rs1719152
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 4 (G-26 T-lymphocyte-secreted protein) (HC21) (Lymphocyte activation gene 1 protein) (LAG-1) (MIP-1-beta(1-69)) (Macrophage inflammatory protein 1-beta) (MIP-1-beta) (PAT 744) (Protein H400) (SIS-gamma) (Small-inducible cytokine A4) (T-cell activation protein 2) (ACT-2) [Cleaved into: MIP-1-beta(3-69)]

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; CCR1 chemokine receptor binding [GO:0031726]; CCR5 chemokine receptor binding [GO:0031730]; chemokine activity [GO:0008009]; cytokine activity [GO:0005125]; identical protein binding [GO:0042802]; cell adhesion [GO:0007155]; cell-cell signaling [GO:0007267]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; cytokine-mediated signaling pathway [GO:0019221]; eosinophil chemotaxis [GO:0048245]; establishment or maintenance of cell polarity [GO:0007163]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; negative regulation by host of viral transcription [GO:0043922]; neutrophil chemotaxis [GO:0030593]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of natural killer cell chemotaxis [GO:2000503]; response to toxic substance [GO:0009636]; response to virus [GO:0009615]; signal transduction [GO:0007165]


uniprotID: P13501
geneSymbol: CCL5
reactome: R-HSA-380108;R-HSA-418594;R-HSA-6783783;
pdb: 1B3A;1EQT;1HRJ;1RTN;1RTO;1U4L;1U4M;1U4P;1U4R;2L9H;2VXW;5CMD;5COY;5DNF;5L2U;5UIW;6FGP;
sequence: MKVSAAALAVILIATALCAPASASPYSSDTTPCCFAYIARPLPRAHIKEYFYTSGKCSNPAVVFVTRKNRQVCANPEKKWVREYINSLEMS
length: 91
go: ENSG00000271503;
drug: DB02322;DB02353;
snps: rs377415776
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 5 (EoCP) (Eosinophil chemotactic cytokine) (SIS-delta) (Small-inducible cytokine A5) (T cell-specific protein P228) (TCP228) (T-cell-specific protein RANTES) [Cleaved into: RANTES(3-68); RANTES(4-68)]

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; CCR1 chemokine receptor binding [GO:0031726]; CCR4 chemokine receptor binding [GO:0031729]; CCR5 chemokine receptor binding [GO:0031730]; chemoattractant activity [GO:0042056]; chemokine activity [GO:0008009]; chemokine receptor antagonist activity [GO:0046817]; chemokine receptor binding [GO:0042379]; identical protein binding [GO:0042802]; phosphatidylinositol phospholipase C activity [GO:0004435]; phospholipase activator activity [GO:0016004]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein self-association [GO:0043621]; receptor signaling protein tyrosine kinase activator activity [GO:0030298]; activation of phospholipase D activity [GO:0031584]; calcium ion transport [GO:0006816]; cell-cell signaling [GO:0007267]; cellular calcium ion homeostasis [GO:0006874]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to organic cyclic compound [GO:0071407]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; dendritic cell chemotaxis [GO:0002407]; eosinophil chemotaxis [GO:0048245]; exocytosis [GO:0006887]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; leukocyte cell-cell adhesion [GO:0007159]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; lymphocyte chemotaxis [GO:0048247]; macrophage chemotaxis [GO:0048246]; MAPK cascade [GO:0000165]; monocyte chemotaxis [GO:0002548]; negative regulation by host of viral transcription [GO:0043922]; negative regulation of G protein-coupled receptor signaling pathway [GO:0045744]; negative regulation of macrophage apoptotic process [GO:2000110]; negative regulation of T cell apoptotic process [GO:0070233]; negative regulation of viral genome replication [GO:0045071]; neutrophil activation [GO:0042119]; neutrophil chemotaxis [GO:0030593]; positive regulation of activation of Janus kinase activity [GO:0010536]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell migration [GO:0030335]; positive regulation of cell-cell adhesion mediated by integrin [GO:0033634]; positive regulation of cellular biosynthetic process [GO:0031328]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of homotypic cell-cell adhesion [GO:0034112]; positive regulation of innate immune response [GO:0045089]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of macrophage chemotaxis [GO:0010759]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of natural killer cell chemotaxis [GO:2000503]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of phosphorylation [GO:0042327]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of T cell apoptotic process [GO:0070234]; positive regulation of T cell chemotaxis [GO:0010820]; positive regulation of T cell migration [GO:2000406]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of translational initiation [GO:0045948]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; positive regulation of viral genome replication [GO:0045070]; protein kinase B signaling [GO:0043491]; protein tetramerization [GO:0051262]; regulation of chronic inflammatory response [GO:0002676]; regulation of insulin secretion [GO:0050796]; regulation of neuron death [GO:1901214]; regulation of T cell activation [GO:0050863]; response to toxic substance [GO:0009636]; response to virus [GO:0009615]


uniprotID: P30279
geneSymbol: CCND2
reactome: R-HSA-69231;R-HSA-8934593;
pdb: 6EI2;
name: G1/S-specific cyclin-D2
length: 289
go: ENSG00000118971;
snps: rs3217921 rs587777618 rs587777620 rs587777622 rs587777622 rs777786993
sequence:

opentargets:
chromatin [GO:0000785]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; mitotic cell cycle [GO:0000278]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of protein phosphorylation [GO:0001934]; protein phosphorylation [GO:0006468]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30279-1; Sequence=Displayed; Name=2; Synonyms=Truncated; IsoId=P30279-2; Sequence=VSP_057295, VSP_057296; Note=Acts as proto-oncogene. Retains ability to bind CDK4, but unable to catalyze efficiently RB phosphorylation and inactivation. {ECO:0000269|PubMed:17873913}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18827403}. Cytoplasm {ECO:0000269|PubMed:18827403}. Membrane {ECO:0000269|PubMed:18827403}. Note=Cyclin D-CDK4 complexes accumulate at the nuclear membrane and are then translocated into the nucleus through interaction with KIP/CIP family members. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:17873913}.


uniprotID: Q14094
geneSymbol: CCNI
name: Cyclin-I
length: 377
go: ENSG00000118816;
snps: rs4252903
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; mitotic cell cycle [GO:0000278]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; protein phosphorylation [GO:0006468]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14094-1; Sequence=Displayed; Name=2; IsoId=Q14094-2; Sequence=VSP_056682; Note=No experimental confirmation available.; 


uniprotID: Q9UK58
geneSymbol: CCNL1
name: Cyclin-L1 (Cyclin-L)
length: 526
go: ENSG00000163660;
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of phosphorylation of RNA polymerase II C-terminal domain [GO:1901409]; positive regulation of transcription by RNA polymerase II [GO:0045944]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Ccnl1 is an immediate-early gene with independently regulated isoforms.; Name=1; Synonyms=Cyclin L alpha, cyclin L1alpha; IsoId=Q9UK58-1; Sequence=Displayed; Name=2; Synonyms=Cyclin L beta, cyclin L1beta; IsoId=Q9UK58-4; Sequence=VSP_016122, VSP_016123; 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; Synonyms=Cyclin L gamma, cyclin L1gamma; IsoId=Q9UK58-5; Sequence=VSP_016120, VSP_016121; 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=Q9UK58-6; Sequence=VSP_058299, VSP_058300; Note=No experimental confirmation.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:18216018}. Nucleus, nucleoplasm {ECO:0000269|PubMed:18216018}. Note=Found in nuclear intrachromatin granules clusters (IGC), also called nuclear speckles, which are storage compartments for nuclear proteins involved in mRNA processing. {ECO:0000250}.


uniprotID: Q8N1B3
geneSymbol: CCNQ
name: Cyclin-Q (CDK10-activating cyclin) (Cyclin-M) (Cyclin-related protein FAM58A)
length: 248
go: ENSG00000262919;
snps: rs17850173
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of phosphorylation of RNA polymerase II C-terminal domain [GO:1901409]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N1B3-1; Sequence=Displayed; Name=2; IsoId=Q8N1B3-2; Sequence=VSP_034527; Note=No experimental confirmation available.; 


uniprotID: P32246
geneSymbol: CCR1
reactome: R-HSA-380108;R-HSA-418594;R-HSA-6783783;
pdb: 1Y5D;
length: 355
go: ENSG00000163823;
name:
C-C chemokine receptor type 1 (C-C CKR-1) (CC-CKR-1) (CCR-1) (CCR1) (HM145) (LD78 receptor) (Macrophage inflammatory protein 1-alpha receptor) (MIP-1alpha-R) (RANTES-R) (CD antigen CD191)

sequence:

opentargets:
cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; chemokine (C-C motif) ligand 5 binding [GO:0071791]; chemokine (C-C motif) ligand 7 binding [GO:0035717]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; phosphatidylinositol phospholipase C activity [GO:0004435]; calcium ion transport [GO:0006816]; calcium-mediated signaling [GO:0019722]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cellular calcium ion homeostasis [GO:0006874]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; dendritic cell chemotaxis [GO:0002407]; exocytosis [GO:0006887]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; immune response [GO:0006955]; inflammatory response [GO:0006954]; negative regulation of bone mineralization [GO:0030502]; negative regulation of gene expression [GO:0010629]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of cell migration [GO:0030335]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of osteoclast differentiation [GO:0045672]; response to wounding [GO:0009611]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18587271}; Multi-pass membrane protein {ECO:0000269|PubMed:18587271}.


uniprotID: Q5FYA8
geneSymbol: ARSH
reactome: R-HSA-1660662;R-HSA-1663150;
name: Arylsulfatase H (ASH) (EC 3.1.6.-)
length: 562
go: ENSG00000205667;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; integral component of membrane [GO:0016021]; arylsulfatase activity [GO:0004065]; metal ion binding [GO:0046872]


uniprotID: P11245
geneSymbol: NAT2
reactome: R-HSA-156582;
pdb: 2PFR;
length: 290
drug: DB00316;DB01068;DB00250;DB04953;DB00951;DB01015;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Arylamine N-acetyltransferase 2 (EC 2.3.1.5) (Arylamide acetylase 2) (N-acetyltransferase type 2) (NAT-2) (Polymorphic arylamine N-acetyltransferase) (PNAT)

sequence:

opentargets:
cytosol [GO:0005829]; arylamine N-acetyltransferase activity [GO:0004060]; xenobiotic metabolic process [GO:0006805]

snps:
rs45477599 rs1801279 rs1805158 rs1801280 rs4986996 rs12720065 rs4986997 rs1799930 rs56387565 rs45518335 rs1208 rs56393504 rs56054745 rs1799931 


uniprotID: Q13510
geneSymbol: ASAH1
reactome: R-HSA-1660662;R-HSA-6798695;
length: 395
go: ENSG00000104763;
location: SUBCELLULAR LOCATION: Lysosome.
name:
Acid ceramidase (AC) (ACDase) (Acid CDase) (EC 3.5.1.23) (Acylsphingosine deacylase) (N-acylsphingosine amidohydrolase) (Putative 32 kDa heart protein) (PHP32) [Cleaved into: Acid ceramidase subunit alpha; Acid ceramidase subunit beta]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; lysosomal lumen [GO:0043202]; tertiary granule lumen [GO:1904724]; catalytic activity [GO:0003824]; ceramidase activity [GO:0102121]; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds [GO:0016810]; N-acylsphingosine amidohydrolase activity [GO:0017040]; ceramide metabolic process [GO:0006672]; glycosphingolipid metabolic process [GO:0006687]; neutrophil degranulation [GO:0043312]

snps:
rs137853595 rs145873635 rs10103355 rs1071645 rs1071645 rs1049874 rs2472205 rs137853594 rs200455852 rs137853597 rs137853593 rs10103355 rs137853596 rs17636067 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13510-1; Sequence=Displayed; Name=2; IsoId=Q13510-2; Sequence=VSP_037504; Name=3; IsoId=Q13510-3; Sequence=VSP_037504, VSP_046284, VSP_046285; Note=No experimental confirmation available.; 


uniprotID: Q9NR71
geneSymbol: ASAH2
reactome: R-HSA-1660662;
pdb: 4WGK;
length: 780
go: ENSG00000188611;
snps: rs7067625 rs993869
name:
Neutral ceramidase (N-CDase) (NCDase) (EC 3.5.1.23) (Acylsphingosine deacylase 2) (BCDase) (LCDase) (hCD) (N-acylsphingosine amidohydrolase 2) (Non-lysosomal ceramidase) [Cleaved into: Neutral ceramidase soluble form]

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; ceramidase activity [GO:0102121]; N-acylsphingosine amidohydrolase activity [GO:0017040]; zinc ion binding [GO:0008270]; apoptotic process [GO:0006915]; ceramide catabolic process [GO:0046514]; ceramide metabolic process [GO:0006672]; long-chain fatty acid biosynthetic process [GO:0042759]; response to organic substance [GO:0010033]; sphingosine biosynthetic process [GO:0046512]; sphingosine metabolic process [GO:0006670]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NR71-1; Sequence=Displayed; Name=2; IsoId=Q9NR71-2; Sequence=VSP_019928; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15845354}; Single-pass type II membrane protein {ECO:0000269|PubMed:15845354}. Note=The neutral ceramidase soluble form is a secreted protein. According to PubMed:10781606, it is mitochondrial. However, they used a shorter form in its N-terminus, which may explain this localization which probably does not exist in vivo.


uniprotID: Q8WXK1
geneSymbol: ASB15
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 15 (ASB-15)
length: 588
go: ENSG00000146809;
snps: rs6962756 rs4731112
sequence:

opentargets:
cytosol [GO:0005829]; intracellular signal transduction [GO:0035556]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]


uniprotID: Q9ULH1
geneSymbol: ASAP1
reactome: R-HSA-5620916;
pdb: 2D1X;2DA0;2ED1;2RQT;2RQU;
length: 1129
go: ENSG00000153317;
snps: rs966185
name:
Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 (130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein) (ADP-ribosylation factor-directed GTPase-activating protein 1) (ARF GTPase-activating protein 1) (Development and differentiation-enhancing factor 1) (DEF-1) (Differentiation-enhancing factor 1) (PIP2-dependent ARF1 GAP)

sequence:

opentargets:
cell projection membrane [GO:0031253]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; plasma membrane [GO:0005886]; podosome [GO:0002102]; cadherin binding [GO:0045296]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; cilium assembly [GO:0060271]; negative regulation of dendritic spine development [GO:0061000]; positive regulation of membrane tubulation [GO:1903527]; positive regulation of podosome assembly [GO:0071803]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q9ULH1-1; Sequence=Displayed; Name=1; IsoId=Q9ULH1-2; Sequence=VSP_008365; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}. Note=Predominantly cytoplasmic. Partially membrane-associated. {ECO:0000250}.


uniprotID: A6NEK1
geneSymbol: ARRDC5
name: Arrestin domain-containing protein 5
length: 342
go: ENSG00000205784;
sequence:


uniprotID: Q9Y574
geneSymbol: ASB4
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 4 (ASB-4)
length: 426
go: ENSG00000005981;
snps: rs35047380
sequence:

opentargets:
Cul2-RING ubiquitin ligase complex [GO:0031462]; Cul5-RING ubiquitin ligase complex [GO:0031466]; cytosol [GO:0005829]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; intracellular signal transduction [GO:0035556]; positive regulation of vasculogenesis [GO:2001214]; post-translational protein modification [GO:0043687]; protein autoubiquitination [GO:0051865]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y574-1; Sequence=Displayed; Name=2; IsoId=Q9Y574-2; Sequence=VSP_042668; Note=No experimental confirmation available.; 


uniprotID: Q9NY37
geneSymbol: ASIC5
reactome: R-HSA-2672351;
length: 505
name:
Acid-sensing ion channel 5 (ASIC5) (Amiloride-sensitive cation channel 5) (Human intestine Na(+) channel) (HINaC)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; acid-sensing ion channel activity [GO:0044736]; proton channel activity [GO:0015252]; ion transmembrane transport [GO:0034220]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10767424}; Multi-pass membrane protein {ECO:0000269|PubMed:10767424}.


uniprotID: Q9Y294
geneSymbol: ASF1A
reactome: R-HSA-2559584;
pdb: 1TEY;2I32;2IIJ;2IO5;3AAD;5C3I;
length: 204
go: ENSG00000111875;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11897662, ECO:0000269|PubMed:12842904}.
name:
Histone chaperone ASF1A (Anti-silencing function protein 1 homolog A) (hAsf1) (hAsf1a) (CCG1-interacting factor A) (CIA) (hCIA)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; DNA repair [GO:0006281]; DNA replication-dependent nucleosome assembly [GO:0006335]; DNA replication-independent nucleosome assembly [GO:0006336]; muscle cell differentiation [GO:0042692]; negative regulation of chromatin silencing [GO:0031936]; nucleosome assembly [GO:0006334]; osteoblast differentiation [GO:0001649]


uniprotID: P42127
geneSymbol: ASIP
pdb: 1Y7J;1Y7K;2IQW;2KZA;2L1J;
name: Agouti-signaling protein (ASP) (Agouti switch protein)
length: 132
go: ENSG00000101440;
snps: rs2296151 rs1129414
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MDVTRLLLATLLVFLCFFTANSHLPPEEKLRDDRSLRSNSSVNLLDVPSVSIVALNKKSKQIGRKAAEKKRSSKKEASMKKVVRPRTPLSAPCVATRNSCKPPAPACCDPCASCQCRFFRSACSCRVLSLNC

opentargets:
extracellular space [GO:0005615]; intracellular [GO:0005622]; signaling receptor binding [GO:0005102]; type 3 melanocortin receptor binding [GO:0031781]; type 4 melanocortin receptor binding [GO:0031782]; adult feeding behavior [GO:0008343]; cell-cell signaling [GO:0007267]; generation of precursor metabolites and energy [GO:0006091]; genetic imprinting [GO:0071514]; hormone-mediated signaling pathway [GO:0009755]; melanin biosynthetic process [GO:0042438]; melanosome organization [GO:0032438]; melanosome transport [GO:0032402]; positive regulation of melanin biosynthetic process [GO:0048023]; regulation of molecular function, epigenetic [GO:0040030]; signal transduction [GO:0007165]


uniprotID: P0C7X3
geneSymbol: CCNYL3
name: Putative cyclin-Y-like protein 3
length: 344
sequence:

opentargets:
plasma membrane [GO:0005886]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]


uniprotID: P86791
geneSymbol: CCZ1
reactome: R-HSA-8876198;
name: Vacuolar fusion protein CCZ1 homolog
length: 482
go: ENSG00000122674;
location: SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17897319}.
sequence:

opentargets:
aggresome [GO:0016235]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; Mon1-Ccz1 complex [GO:0035658]; guanyl-nucleotide exchange factor activity [GO:0005085]; vesicle-mediated transport [GO:0016192]


uniprotID: P78348
geneSymbol: ASIC1
reactome: R-HSA-2672351;
length: 528
go: ENSG00000110881;
drug: DB00594;DB00586;
name:
Acid-sensing ion channel 1 (ASIC1) (Amiloride-sensitive cation channel 2, neuronal) (Brain sodium channel 2) (BNaC2)

sequence:

opentargets:
cell surface [GO:0009986]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; synapse [GO:0045202]; acid-sensing ion channel activity [GO:0044736]; ligand-gated sodium channel activity [GO:0015280]; associative learning [GO:0008306]; behavioral fear response [GO:0001662]; calcium ion transmembrane transport [GO:0070588]; cellular response to pH [GO:0071467]; ion transmembrane transport [GO:0034220]; memory [GO:0007613]; negative regulation of neurotransmitter secretion [GO:0046929]; protein homotrimerization [GO:0070207]; regulation of membrane potential [GO:0042391]; response to acidic pH [GO:0010447]; response to amphetamine [GO:0001975]; response to pH [GO:0009268]; sensory perception of sour taste [GO:0050915]; signal transduction [GO:0007165]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; Synonyms=Asic1a; IsoId=P78348-2; Sequence=Displayed; Name=1; Synonyms=Asic1b; IsoId=P78348-1; Sequence=VSP_015596; Name=3; IsoId=P78348-3; Sequence=VSP_045298; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12578970, ECO:0000269|PubMed:21036899, ECO:0000269|PubMed:22760635}; Multi-pass membrane protein {ECO:0000269|PubMed:12578970, ECO:0000269|PubMed:21036899, ECO:0000269|PubMed:22760635}. Note=Localizes in synaptosomes at dendritic synapses of neurons. Colocalizes with DLG4 (By similarity). {ECO:0000250}.


uniprotID: A6H8M9
geneSymbol: CDHR4
name: Cadherin-related family member 4 (Cadherin-like protein 29)
length: 788
go: ENSG00000187492;
snps: rs13072748
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6H8M9-1; Sequence=Displayed; Name=2; IsoId=A6H8M9-2; Sequence=VSP_031552, VSP_031553; 


uniprotID: Q6ICH7
geneSymbol: ASPHD2
name: Aspartate beta-hydroxylase domain-containing protein 2 (EC 1.14.11.-)
length: 369
go: ENSG00000128203;
snps: rs34902186
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; metal ion binding [GO:0046872]; peptide-aspartate beta-dioxygenase activity [GO:0004597]; peptidyl-aspartic acid hydroxylation [GO:0042264]


uniprotID: Q14004
geneSymbol: CDK13
reactome: R-HSA-6796648;R-HSA-6798695;
pdb: 5EFQ;
length: 1512
go: ENSG00000065883;
location: SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:16721827}.
name:
Cyclin-dependent kinase 13 (EC 2.7.11.22) (EC 2.7.11.23) (CDC2-related protein kinase 5) (Cell division cycle 2-like protein kinase 5) (Cell division protein kinase 13) (hCDK13) (Cholinesterase-related cell division controller)

sequence:

opentargets:
chromosome [GO:0005694]; cyclin K-CDK13 complex [GO:0002945]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cyclin/CDK positive transcription elongation factor complex [GO:0008024]; cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; Golgi apparatus [GO:0005794]; nuclear chromatin [GO:0000790]; nuclear cyclin-dependent protein kinase holoenzyme complex [GO:0019908]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin binding [GO:0030332]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; RNA polymerase II CTD heptapeptide repeat kinase activity [GO:0008353]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; alternative mRNA splicing, via spliceosome [GO:0000380]; hemopoiesis [GO:0030097]; multicellular organism development [GO:0007275]; negative regulation of stem cell differentiation [GO:2000737]; neutrophil degranulation [GO:0043312]; phosphorylation of RNA polymerase II C-terminal domain [GO:0070816]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; protein phosphorylation [GO:0006468]; regulation of mitotic nuclear division [GO:0007088]; transcription elongation from RNA polymerase II promoter [GO:0006368]; viral process [GO:0016032]

snps:
rs13622 rs17537669 rs3735137 rs17496261 rs34624759 rs3735135 rs17496275 rs34775357 rs1057000 rs1057519633 rs1057519632 rs1064795731 rs1057519634 rs878853160 rs17496712 rs3204309 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14004-1; Sequence=Displayed; Name=2; IsoId=Q14004-2; Sequence=VSP_013579; 


uniprotID: Q9C0F0
geneSymbol: ASXL3
name: Putative Polycomb group protein ASXL3 (Additional sex combs-like protein 3)
length: 2248
go: ENSG00000141431;
snps: rs2282632 rs16964887 rs17746949 rs7232237
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
PR-DUB complex [GO:0035517]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; peroxisome proliferator activated receptor binding [GO:0042975]; animal organ morphogenesis [GO:0009887]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C0F0-1; Sequence=Displayed; Name=2; IsoId=Q9C0F0-2; Sequence=VSP_042433, VSP_042434; 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.; 


uniprotID: Q2TB18
geneSymbol: ASTE1
name: Protein asteroid homolog 1
length: 679
go: ENSG00000034533;
opentargets: nuclease activity [GO:0004518]; DNA repair [GO:0006281]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2TB18-1; Sequence=Displayed; Name=2; IsoId=Q2TB18-2; Sequence=VSP_056699, VSP_056700; Note=No experimental confirmation available.; 


uniprotID: Q9NQ11
geneSymbol: ATP13A2
reactome: R-HSA-936837;
name: Cation-transporting ATPase 13A2 (EC 3.6.3.-)
length: 1180
go: ENSG00000159363;
sequence:

opentargets:
autophagosome [GO:0005776]; integral component of lysosomal membrane [GO:1905103]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; lysosomal lumen [GO:0043202]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; multivesicular body [GO:0005771]; multivesicular body membrane [GO:0032585]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; transport vesicle [GO:0030133]; vesicle [GO:0031982]; vesicle membrane [GO:0012506]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; cation-transporting ATPase activity [GO:0019829]; cupric ion binding [GO:1903135]; manganese ion binding [GO:0030145]; phosphatidic acid binding [GO:0070300]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; zinc ion binding [GO:0008270]; autophagosome organization [GO:1905037]; cellular calcium ion homeostasis [GO:0006874]; cellular cation homeostasis [GO:0030003]; cellular iron ion homeostasis [GO:0006879]; cellular response to manganese ion [GO:0071287]; cellular response to oxidative stress [GO:0034599]; cellular response to zinc ion [GO:0071294]; cellular zinc ion homeostasis [GO:0006882]; extracellular exosome biogenesis [GO:0097734]; ion transmembrane transport [GO:0034220]; negative regulation of lysosomal protein catabolic process [GO:1905166]; negative regulation of neuron death [GO:1901215]; peptidyl-aspartic acid autophosphorylation [GO:1990938]; polyamine transmembrane transport [GO:1902047]; positive regulation of exosomal secretion [GO:1903543]; positive regulation of protein secretion [GO:0050714]; protein autophosphorylation [GO:0046777]; regulation of autophagosome size [GO:0016243]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of chaperone-mediated autophagy [GO:1904714]; regulation of endopeptidase activity [GO:0052548]; regulation of glucosylceramidase activity [GO:1905123]; regulation of intracellular protein transport [GO:0033157]; regulation of lysosomal protein catabolic process [GO:1905165]; regulation of macroautophagy [GO:0016241]; regulation of mitochondrion organization [GO:0010821]; zinc ion homeostasis [GO:0055069]

snps:
rs151117874 rs56379718 rs56367069 rs56275621 rs121918227 rs1057519291 rs56186751 rs147277743 rs55635527 rs56170027 rs587777053 rs144701072 rs55708915 rs137853967 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=Q9NQ11-1; Sequence=Displayed; Name=B; IsoId=Q9NQ11-2; Sequence=VSP_007310, VSP_007311, VSP_007312; Name=3; IsoId=Q9NQ11-3; Sequence=VSP_007310; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Lysosome {ECO:0000269|PubMed:21542062, ECO:0000269|PubMed:22186024, ECO:0000269|PubMed:28137957}. Lysosome membrane {ECO:0000269|PubMed:22768177}.


uniprotID: P42330
geneSymbol: AKR1C3
reactome: R-HSA-193368;R-HSA-193775;R-HSA-193807;R-HSA-2162123;R-HSA-5365859;R-HSA-975634;
length: 323
go: ENSG00000196139;
drug: DB03461;DB01536;DB00905;DB00997;DB02266;DB00157;DB01698;
snps: rs12529 rs35961894 rs11551177 rs35575889 rs1131132 rs34186955
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1RY0;1RY8;1S1P;1S1R;1S2A;1S2C;1XF0;1ZQ5;2F38;2FGB;3R43;3R58;3R6I;3R7M;3R8G;3R8H;3R94;3UFY;3UG8;3UGR;3UWE;4DBS;4DBU;4DBW;4DZ5;4FA3;4FAL;4FAM;4H7C;4HMN;4WDT;4WDU;4WDW;4WDX;4WRH;4XVD;4XVE;4YVV;4YVX;4ZFC;5HNT;5HNU;5JM5;6F2U;6F78;

name:
Aldo-keto reductase family 1 member C3 (EC 1.-.-.-) (17-beta-hydroxysteroid dehydrogenase type 5) (17-beta-HSD 5) (3-alpha-HSD type II, brain) (3-alpha-hydroxysteroid dehydrogenase type 2) (3-alpha-HSD type 2) (EC 1.1.1.357) (Chlordecone reductase homolog HAKRb) (Dihydrodiol dehydrogenase 3) (DD-3) (DD3) (Dihydrodiol dehydrogenase type I) (HA1753) (Indanol dehydrogenase) (EC 1.1.1.112) (Prostaglandin F synthase) (PGFS) (EC 1.1.1.188) (Testosterone 17-beta-dehydrogenase 5) (EC 1.1.1.239) (EC 1.1.1.64) (Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase) (EC 1.3.1.20)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular [GO:0005622]; nucleus [GO:0005634]; 15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity [GO:0047020]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; aldo-keto reductase (NADP) activity [GO:0004033]; androsterone dehydrogenase activity [GO:0047023]; delta4-3-oxosteroid 5beta-reductase activity [GO:0047787]; dihydrotestosterone 17-beta-dehydrogenase activity [GO:0035410]; geranylgeranyl reductase activity [GO:0045550]; indanol dehydrogenase activity [GO:0047718]; ketoreductase activity [GO:0045703]; ketosteroid monooxygenase activity [GO:0047086]; NADP-retinol dehydrogenase activity [GO:0052650]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor [GO:0016655]; phenanthrene 9,10-monooxygenase activity [GO:0018636]; prostaglandin D2 11-ketoreductase activity [GO:0036131]; prostaglandin H2 endoperoxidase reductase activity [GO:0036130]; prostaglandin-F synthase activity [GO:0047017]; retinal dehydrogenase activity [GO:0001758]; retinol dehydrogenase activity [GO:0004745]; steroid dehydrogenase activity [GO:0016229]; testosterone 17-beta-dehydrogenase (NADP+) activity [GO:0047045]; testosterone dehydrogenase (NAD+) activity [GO:0047035]; trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity [GO:0047115]; cellular response to cadmium ion [GO:0071276]; cellular response to calcium ion [GO:0071277]; cellular response to corticosteroid stimulus [GO:0071384]; cellular response to jasmonic acid stimulus [GO:0071395]; cellular response to prostaglandin D stimulus [GO:0071799]; cellular response to prostaglandin stimulus [GO:0071379]; cellular response to reactive oxygen species [GO:0034614]; cellular response to starvation [GO:0009267]; cyclooxygenase pathway [GO:0019371]; daunorubicin metabolic process [GO:0044597]; doxorubicin metabolic process [GO:0044598]; farnesol catabolic process [GO:0016488]; G protein-coupled receptor signaling pathway [GO:0007186]; keratinocyte differentiation [GO:0030216]; macromolecule metabolic process [GO:0043170]; male gonad development [GO:0008584]; negative regulation of retinoic acid biosynthetic process [GO:1900053]; oxidation-reduction process [GO:0055114]; positive regulation of cell death [GO:0010942]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; progesterone metabolic process [GO:0042448]; prostaglandin metabolic process [GO:0006693]; protein import into nucleus, translocation [GO:0000060]; regulation of retinoic acid receptor signaling pathway [GO:0048385]; regulation of testosterone biosynthetic process [GO:2000224]; renal absorption [GO:0070293]; response to nutrient [GO:0007584]; retinal metabolic process [GO:0042574]; retinoid metabolic process [GO:0001523]; steroid metabolic process [GO:0008202]; testosterone biosynthetic process [GO:0061370]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P42330-1; Sequence=Displayed; Name=2; IsoId=P42330-2; Sequence=VSP_055798; Note=No experimental confirmation available.; 


uniprotID: P47756
geneSymbol: CAPZB
reactome: R-HSA-2132295;R-HSA-3371497;R-HSA-6807878;R-HSA-6811436;R-HSA-983231;
name: F-actin-capping protein subunit beta (CapZ beta)
length: 277
go: ENSG00000077549;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; actin filament [GO:0005884]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; F-actin capping protein complex [GO:0008290]; sarcomere [GO:0030017]; WASH complex [GO:0071203]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; actin cytoskeleton organization [GO:0030036]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; barbed-end actin filament capping [GO:0051016]; blood coagulation [GO:0007596]; cell morphogenesis [GO:0000902]; cytoskeleton organization [GO:0007010]; ER to Golgi vesicle-mediated transport [GO:0006888]; negative regulation of filopodium assembly [GO:0051490]; regulation of cell morphogenesis [GO:0022604]; regulation of lamellipodium assembly [GO:0010591]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P47756-1; Sequence=Displayed; Name=2; IsoId=P47756-2; Sequence=VSP_000767; Name=3; IsoId=P47756-3; Sequence=Not described; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, myofibril, sarcomere {ECO:0000250}.


uniprotID: Q9Y5C1
geneSymbol: ANGPTL3
reactome: R-HSA-8963889;
pdb: 6EUA;
length: 460
go: ENSG00000132855;
name:
Angiopoietin-related protein 3 (Angiopoietin-5) (ANG-5) (Angiopoietin-like protein 3) [Cleaved into: ANGPTL3(17-221); ANGPTL3(17-224)]

sequence:

opentargets:
cell surface [GO:0009986]; early endosome [GO:0005769]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; enzyme inhibitor activity [GO:0004857]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; integrin binding [GO:0005178]; phospholipase inhibitor activity [GO:0004859]; acylglycerol homeostasis [GO:0055090]; angiogenesis [GO:0001525]; artery morphogenesis [GO:0048844]; cell-matrix adhesion [GO:0007160]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; fatty acid metabolic process [GO:0006631]; glycerol metabolic process [GO:0006071]; integrin-mediated signaling pathway [GO:0007229]; lipid homeostasis [GO:0055088]; lipid storage [GO:0019915]; negative regulation of lipoprotein lipase activity [GO:0051005]; negative regulation of phospholipase activity [GO:0010519]; phospholipid catabolic process [GO:0009395]; phospholipid homeostasis [GO:0055091]; phospholipid metabolic process [GO:0006644]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell migration [GO:0030335]; positive regulation of lipid catabolic process [GO:0050996]; regulation of lipoprotein lipase activity [GO:0051004]; response to hormone [GO:0009725]; signal transduction [GO:0007165]; triglyceride homeostasis [GO:0070328]

snps:
rs146749211 rs139334976 rs72649573 rs775976787 rs149624466 rs77871363 rs763904695 rs138899888 rs1334979946 rs768802285 rs376210525 rs4145257 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250, ECO:0000305|PubMed:11877390}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q9R182}. Note=Colocalized with HSPG2 and activated ITGB3 on podocytes. {ECO:0000250|UniProtKB:Q9R182}.


uniprotID: Q92527
geneSymbol: ANKRD7
name: Ankyrin repeat domain-containing protein 7 (Testis-specific protein TSA806)
length: 254
go: ENSG00000106013;
opentargets: male gonad development [GO:0008584]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92527-1; Sequence=Displayed; Name=2; IsoId=Q92527-2; Sequence=VSP_037160; Note=Gene prediction based on EST data.; 


uniprotID: Q8N957
geneSymbol: ANKFN1
name: Ankyrin repeat and fibronectin type-III domain-containing protein 1
length: 763
go: ENSG00000153930;
snps: rs10852985
sequence:


uniprotID: P55064
geneSymbol: AQP5
reactome: R-HSA-432047;
pdb: 3D9S;5C5X;5DYE;
name: Aquaporin-5 (AQP-5)
length: 265
go: ENSG00000161798;
snps: rs398123054 rs398123055 rs398123057 rs398123056 rs368292687
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; water channel activity [GO:0015250]; camera-type eye morphogenesis [GO:0048593]; carbon dioxide transport [GO:0015670]; excretion [GO:0007588]; odontogenesis [GO:0042476]; pancreatic juice secretion [GO:0030157]; saliva secretion [GO:0046541]; water transport [GO:0006833]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:Q9WTY4}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P41181
geneSymbol: AQP2
reactome: R-HSA-432040;R-HSA-432047;
pdb: 4NEF;4OJ2;
length: 271
go: ENSG00000167580;
name:
Aquaporin-2 (AQP-2) (ADH water channel) (Aquaporin-CD) (AQP-CD) (Collecting duct water channel protein) (WCH-CD) (Water channel protein for renal collecting duct)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; transport vesicle membrane [GO:0030658]; glycerol transmembrane transporter activity [GO:0015168]; water channel activity [GO:0015250]; water transmembrane transporter activity [GO:0005372]; cellular response to copper ion [GO:0071280]; cellular response to mercury ion [GO:0071288]; cellular response to water deprivation [GO:0042631]; excretion [GO:0007588]; glycerol transport [GO:0015793]; metanephric collecting duct development [GO:0072205]; renal water homeostasis [GO:0003091]; renal water transport [GO:0003097]; water transport [GO:0006833]

snps:
rs104894336 rs995684800 rs28931580 rs104894326 rs104894331 rs149659001 rs104894338 rs11169226 rs104894333 rs104894330 rs104894334 rs755694590 rs104894335 rs147039983 rs104894337 rs761713751 rs104894328 rs193922495 rs104894341 rs772051028 rs104894329 rs104894332 rs104894339 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:12194985}; Multi-pass membrane protein {ECO:0000269|PubMed:12194985}. Basolateral cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:12194985}; Multi-pass membrane protein {ECO:0000269|PubMed:12194985}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:12194985}; Multi-pass membrane protein {ECO:0000269|PubMed:12194985}. Note=Shuttles from vesicles to the apical membrane. Vasopressin-regulated phosphorylation is required for translocation to the apical cell membrane. PLEKHA8/FAPP2 is required to transport AQP2 from the TGN to sites where AQP2 is phosphorylated.


uniprotID: Q66PJ3
geneSymbol: ARL6IP4
length: 421
go: ENSG00000182196;
snps: rs12825243
name:
ADP-ribosylation factor-like protein 6-interacting protein 4 (ARL-6-interacting protein 4) (Aip-4) (HSP-975) (HSVI-binding protein) (SR-15) (SRp25) (SR-25) (Splicing factor SRrp37)

sequence:

opentargets:
nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleus [GO:0005634]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q66PJ3-1; Sequence=Displayed; Name=2; IsoId=Q66PJ3-2; Sequence=VSP_029782; Name=3; IsoId=Q66PJ3-3; Sequence=VSP_029780; Name=4; IsoId=Q66PJ3-4; Sequence=VSP_029780, VSP_029785; Name=5; IsoId=Q66PJ3-5; Sequence=VSP_029782, VSP_029784; Name=6; IsoId=Q66PJ3-6; Sequence=VSP_029781, VSP_029783; Name=7; Synonyms=SRrp37-2; IsoId=Q66PJ3-7; Sequence=VSP_054581, VSP_054582; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:19582790}. Nucleus speckle {ECO:0000269|PubMed:19582790}.


uniprotID: P29466
geneSymbol: CASP1
reactome: R-HSA-168638;R-HSA-448706;R-HSA-6803207;R-HSA-844456;R-HSA-844615;R-HSA-844623;R-HSA-9008059;
length: 404
go: ENSG00000137752;
drug: DB07744;DB07916;DB05408;DB05301;DB01017;DB04875;DB05507;
snps: rs1042743
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1BMQ;1IBC;1ICE;1RWK;1RWM;1RWN;1RWO;1RWP;1RWV;1RWW;1RWX;1SC1;1SC3;1SC4;2FQQ;2H48;2H4W;2H4Y;2H51;2H54;2HBQ;2HBR;2HBY;2HBZ;3D6F;3D6H;3D6M;3E4C;3NS7;5FNA;5MMV;5MTK;6BZ9;6F6R;

name:
Caspase-1 (CASP-1) (EC 3.4.22.36) (Interleukin-1 beta convertase) (IL-1BC) (Interleukin-1 beta-converting enzyme) (ICE) (IL-1 beta-converting enzyme) (p45) [Cleaved into: Caspase-1 subunit p20; Caspase-1 subunit p10]

sequence:

opentargets:
AIM2 inflammasome complex [GO:0097169]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; IPAF inflammasome complex [GO:0072557]; NLRP1 inflammasome complex [GO:0072558]; NLRP3 inflammasome complex [GO:0072559]; protease inhibitor complex [GO:0097179]; protein-containing complex [GO:0032991]; CARD domain binding [GO:0050700]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097199]; endopeptidase activity [GO:0004175]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; cellular response to cytokine stimulus [GO:0071345]; cellular response to interferon-gamma [GO:0071346]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to mechanical stimulus [GO:0071260]; cellular response to organic substance [GO:0071310]; cytokine-mediated signaling pathway [GO:0019221]; execution phase of apoptosis [GO:0097194]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of tumor necrosis factor-mediated signaling pathway [GO:1903265]; protein autoprocessing [GO:0016540]; proteolysis [GO:0006508]; regulation of apoptotic process [GO:0042981]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=Alpha; IsoId=P29466-1; Sequence=Displayed; Name=Beta; IsoId=P29466-2; Sequence=VSP_000798; Name=Gamma; IsoId=P29466-3; Sequence=VSP_000799; Name=Delta; IsoId=P29466-4; Sequence=VSP_000799, VSP_000800; Note=Apoptosis inactive.; Name=Epsilon; IsoId=P29466-5; Sequence=VSP_000797; Note=Apoptosis inactive.; 


uniprotID: P35626
geneSymbol: GRK3
reactome: R-HSA-418555;R-HSA-8856825;
name: Beta-adrenergic receptor kinase 2 (Beta-ARK-2) (EC 2.7.11.15) (G-protein-coupled receptor kinase 3)
length: 688
go: ENSG00000100077;
drug: DB00171;
snps: rs55700971 rs55740593 rs2272859
sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; beta-adrenergic receptor kinase activity [GO:0047696]; G protein-coupled receptor kinase activity [GO:0004703]; protein kinase activity [GO:0004672]; G protein-coupled receptor signaling pathway [GO:0007186]; receptor internalization [GO:0031623]; signal transduction [GO:0007165]


uniprotID: Q6UXS9
geneSymbol: CASP12
name: Inactive caspase-12 (CASP-12)
length: 341
go: ENSG00000204403;
snps: rs693001 rs497116 rs647039
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097199]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UXS9-1; Sequence=Displayed; Name=2; Synonyms=Alpha, Beta; IsoId=Q6UXS9-2; Sequence=VSP_030954, VSP_030955; Name=3; IsoId=Q6UXS9-3; Sequence=VSP_030953; Note=No experimental confirmation available.; 


uniprotID: P31415
geneSymbol: CASQ1
reactome: R-HSA-2672351;R-HSA-5578775;
pdb: 3UOM;5CRD;5CRE;5CRG;5CRH;
name: Calsequestrin-1 (Calmitine) (Calsequestrin, skeletal muscle isoform)
length: 396
go: ENSG00000143318;
snps: rs140253806 rs34489853 rs730882052 rs371278891
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum lumen [GO:0033018]; sarcoplasmic reticulum membrane [GO:0033017]; smooth endoplasmic reticulum [GO:0005790]; T-tubule [GO:0030315]; terminal cisterna lumen [GO:0014804]; Z disc [GO:0030018]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; endoplasmic reticulum organization [GO:0007029]; ion transmembrane transport [GO:0034220]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of store-operated calcium channel activity [GO:1901341]; protein polymerization [GO:0051258]; regulation of cardiac conduction [GO:1903779]; regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion [GO:0014809]; regulation of store-operated calcium entry [GO:2001256]; response to denervation involved in regulation of muscle adaptation [GO:0014894]; response to heat [GO:0009408]; response to organic substance [GO:0010033]; sarcomere organization [GO:0045214]; skeletal muscle tissue development [GO:0007519]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:27185316, ECO:0000269|PubMed:28895244}. Sarcoplasmic reticulum {ECO:0000269|PubMed:27196359}. Sarcoplasmic reticulum lumen {ECO:0000250|UniProtKB:P07221}. Sarcoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side {ECO:0000250|UniProtKB:P07221}. Mitochondrion matrix {ECO:0000250|UniProtKB:O09165}. Note=This isoform of calsequestrin occurs in the sarcoplasmic reticulum's terminal cisternae luminal spaces of fast skeletal muscle cells. Preferentially forms linear and round aggregates in the endoplasmic reticulum (ER) of resting cells (PubMed:28895244). In a minority of cells, homogeneously detected in the ER lumen (PubMed:28895244). Colocalizes with STIM1 at endoplasmic reticulum in response to a depletion of intracellular calcium (PubMed:27185316). {ECO:0000250|UniProtKB:P07221, ECO:0000269|PubMed:27185316, ECO:0000269|PubMed:28895244}.


uniprotID: Q8N1W1
geneSymbol: ARHGEF28
reactome: R-HSA-3928662;
pdb: 6BC0;6BC1;
length: 1705
go: ENSG00000214944;
snps: rs12659447 rs7714670 rs6453022 rs2973571 rs2973566 rs2973558 rs17634865 rs1478453
name:
Rho guanine nucleotide exchange factor 28 (190 kDa guanine nucleotide exchange factor) (p190-RhoGEF) (p190RhoGEF) (Rho guanine nucleotide exchange factor)

sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; RNA binding [GO:0003723]; cell differentiation [GO:0030154]; ephrin receptor signaling pathway [GO:0048013]; intracellular signal transduction [GO:0035556]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8N1W1-1; Sequence=Displayed; Name=2; IsoId=Q8N1W1-2; Sequence=VSP_032140, VSP_032141; Note=No experimental confirmation available.; Name=3; IsoId=Q8N1W1-3; Sequence=VSP_032142, VSP_032143; Note=No experimental confirmation available.; Name=4; IsoId=Q8N1W1-4; Sequence=VSP_032144; Name=5; IsoId=Q8N1W1-5; Sequence=VSP_044737, VSP_044738; Note=No experimental confirmation available.; Name=6; IsoId=Q8N1W1-6; Sequence=VSP_032143; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Colocalizes with the microtubule radial and cortical systems. {ECO:0000250}.


uniprotID: Q8N4T4
geneSymbol: ARHGEF39
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Rho guanine nucleotide exchange factor 39
length: 335
go: ENSG00000137135;
snps: rs45567235 rs2297879
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22327280}.
sequence:

opentargets:
plasma membrane [GO:0005886]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; positive regulation of cell migration [GO:0030335]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N4T4-1; Sequence=Displayed; Name=2; IsoId=Q8N4T4-2; Sequence=VSP_026281, VSP_026282; Note=No experimental confirmation available.; Name=3; IsoId=Q8N4T4-3; Sequence=VSP_026283, VSP_026284; Note=No experimental confirmation available.; Name=4; IsoId=Q8N4T4-4; Sequence=VSP_026285, VSP_026286; 


uniprotID: Q9HCE6
geneSymbol: ARHGEF10L
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Rho guanine nucleotide exchange factor 10-like protein (GrinchGEF)
length: 1279
go: ENSG00000074964;
snps: rs34417109 rs35497285 rs6695710 rs2270976
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16112081}.
sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; actin cytoskeleton organization [GO:0030036]; positive regulation of stress fiber assembly [GO:0051496]; regulation of Rho protein signal transduction [GO:0035023]; SREBP signaling pathway [GO:0032933]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9HCE6-1; Sequence=Displayed; Name=2; IsoId=Q9HCE6-2; Sequence=VSP_034421; Name=3; IsoId=Q9HCE6-3; Sequence=VSP_034421, VSP_034424; Name=4; IsoId=Q9HCE6-4; Sequence=VSP_034420, VSP_034422, VSP_034423, VSP_034424; Name=5; IsoId=Q9HCE6-5; Sequence=VSP_034424, VSP_034425, VSP_034426; Note=No experimental confirmation available.; 


uniprotID: Q8IV13
geneSymbol: CCNJL
name: Cyclin-J-like protein
length: 435
go: ENSG00000135083;
snps: rs13362036
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; mitotic cell cycle [GO:0000278]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; protein phosphorylation [GO:0006468]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IV13-1; Sequence=Displayed; Name=2; IsoId=Q8IV13-2; Sequence=VSP_029130, VSP_029131, VSP_029132; 


uniprotID: Q5T5M9
geneSymbol: CCNJ
name: Cyclin-J
length: 372
go: ENSG00000107443;
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; mitotic cell cycle [GO:0000278]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; protein phosphorylation [GO:0006468]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T5M9-1; Sequence=Displayed; Name=2; IsoId=Q5T5M9-2; Sequence=VSP_029128; Name=3; IsoId=Q5T5M9-3; Sequence=VSP_041163; 


uniprotID: Q96S94
geneSymbol: CCNL2
name: Cyclin-L2 (Paneth cell-enhanced expression protein)
length: 520
go: ENSG00000221978;
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; intracellular membrane-bounded organelle [GO:0043231]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of phosphorylation of RNA polymerase II C-terminal domain [GO:1901409]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=cyclin L2alpha; IsoId=Q96S94-1; Sequence=Displayed; Name=2; Synonyms=CCNL2s; IsoId=Q96S94-2; Sequence=VSP_058302, VSP_058303; Name=3; IsoId=Q96S94-3; Sequence=VSP_016132; Name=4; Synonyms=cyclin L2betaB; IsoId=Q96S94-4; Sequence=VSP_058301, VSP_058304; Name=5; Synonyms=cyclin L2betaA; IsoId=Q96S94-5; Sequence=VSP_016130, VSP_016131; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:14684736, ECO:0000269|PubMed:18216018}. Nucleus, nucleoplasm {ECO:0000269|PubMed:18216018}.


uniprotID: P22674
geneSymbol: CCNO
name: Cyclin-O
length: 350
go: ENSG00000152669;
snps: rs13169396 rs775051461 rs797045150
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; cilium assembly [GO:0060271]; mitotic cell cycle [GO:0000278]; multi-ciliated epithelial cell differentiation [GO:1903251]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; protein phosphorylation [GO:0006468]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]; response to drug [GO:0042493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22674-1; Sequence=Displayed; Name=2; IsoId=P22674-2; Sequence=VSP_021655, VSP_021656; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24747639}. Note=Localizes to the apical part of cytoplasm. {ECO:0000269|PubMed:24747639}.


uniprotID: O60563
geneSymbol: CCNT1
name: Cyclin-T1 (CycT1) (Cyclin-T)
length: 726
go: ENSG00000129315;
snps: rs17123261 rs201951577
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12944466}.
reactome:
R-HSA-112382;R-HSA-167152;R-HSA-167200;R-HSA-167238;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-176034;R-HSA-2173796;R-HSA-674695;R-HSA-6796648;R-HSA-6807505;R-HSA-75955;R-HSA-9018519;

pdb:
2PK2;3BLH;3BLQ;3BLR;3LQ5;3MI9;3MIA;3MY1;3TN8;3TNH;3TNI;4BCF;4BCG;4BCH;4BCI;4BCJ;4EC8;4EC9;4IMY;4OGR;4OR5;5L1Z;6GZH;

sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cyclin/CDK positive transcription elongation factor complex [GO:0008024]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 7SK snRNA binding [GO:0097322]; chromatin binding [GO:0003682]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; DNA binding [GO:0003677]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase binding [GO:0070063]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; cell cycle [GO:0007049]; cell division [GO:0051301]; negative regulation of mRNA polyadenylation [GO:1900364]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of phosphorylation of RNA polymerase II C-terminal domain [GO:1901409]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of viral transcription [GO:0050434]; protein phosphorylation [GO:0006468]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60563-1; Sequence=Displayed; Name=2; IsoId=O60563-2; Sequence=VSP_054569, VSP_054570; 


uniprotID: P51677
geneSymbol: CCR3
reactome: R-HSA-380108;R-HSA-418594;
length: 355
go: ENSG00000183625;
snps: rs4987125 rs5742906
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
C-C chemokine receptor type 3 (C-C CKR-3) (CC-CKR-3) (CCR-3) (CCR3) (CKR3) (Eosinophil eotaxin receptor) (CD antigen CD193)

sequence:

opentargets:
cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; calcium-mediated signaling [GO:0019722]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; cellular defense response [GO:0006968]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of endothelial cell proliferation [GO:0001938]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51677-1; Sequence=Displayed; Name=2; IsoId=P51677-2; Sequence=VSP_046704; Note=Gene prediction based on EST data.; 


uniprotID: P56211
geneSymbol: ARPP19
reactome: R-HSA-2465910;
name: cAMP-regulated phosphoprotein 19 (ARPP-19)
length: 112
go: ENSG00000128989;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MSAEVPEAASAEEQKEMEDKVTSPEKAEEAKLKARYPHLGQKPGGSDFLRKRLQKGQKYFDSGDYNMAKAKMKNKQLPTAAPDKTEVTGDHIPTPQDLPQRKPSLVASKLAG

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; phosphatase inhibitor activity [GO:0019212]; potassium channel regulator activity [GO:0015459]; protein phosphatase 2A binding [GO:0051721]; protein phosphatase inhibitor activity [GO:0004864]; protein phosphatase regulator activity [GO:0019888]; signaling receptor binding [GO:0005102]; cell division [GO:0051301]; G2/M transition of mitotic cell cycle [GO:0000086]; mitotic cell cycle [GO:0000278]; negative regulation of protein dephosphorylation [GO:0035308]; positive regulation of gluconeogenesis [GO:0045722]; positive regulation of glucose import [GO:0046326]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=ARPP-19; IsoId=P56211-1; Sequence=Displayed; Name=ARPP-16; IsoId=P56211-2; Sequence=VSP_018555; 


uniprotID: Q9P1U1
geneSymbol: ACTR3B
name: Actin-related protein 3B (ARP3-beta) (Actin-like protein 3B) (Actin-related protein ARP4)
length: 418
go: ENSG00000133627;
snps: rs2260545
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection {ECO:0000250}.
sequence:

opentargets:
Arp2/3 protein complex [GO:0005885]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; actin binding [GO:0003779]; ATP binding [GO:0005524]; Arp2/3 complex-mediated actin nucleation [GO:0034314]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P1U1-1; Sequence=Displayed; Name=2; IsoId=Q9P1U1-2; Sequence=VSP_034418; Name=3; IsoId=Q9P1U1-3; Sequence=VSP_041474; 


uniprotID: Q9GZN1
geneSymbol: ACTR6
name: Actin-related protein 6 (hArp6) (hARPX)
length: 396
go: ENSG00000075089;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; nucleus [GO:0005634]; chromatin remodeling [GO:0006338]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZN1-1; Sequence=Displayed; Name=2; IsoId=Q9GZN1-2; Sequence=VSP_054637, VSP_054638; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Nucleus {ECO:0000269|PubMed:16487625}. Note=Colocalizes with HP1 family proteins at pericentric heterochromatin.


uniprotID: Q7Z6K5
geneSymbol: ARPIN
pdb: 4Z68;
name: Arpin (Arp2/3 inhibition protein)
length: 226
go: ENSG00000242498;
sequence:

opentargets:
lamellipodium [GO:0030027]; directional locomotion [GO:0033058]; negative regulation of actin nucleation [GO:0051126]; negative regulation of cell migration [GO:0030336]; negative regulation of lamellipodium morphogenesis [GO:2000393]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z6K5-1; Sequence=Displayed; Name=C15orf38-AP3S2; IsoId=Q7Z6K5-2; Sequence=VSP_047416; Note=Based on a naturally occurring readthrough transcript which produces a C15orf38-AP3S2 fusion protein.; 

location:
SUBCELLULAR LOCATION: Cell projection, lamellipodium {ECO:0000250}. Note=Colocalized with the WAVE complex at lamelliupodium tip. {ECO:0000250}.


uniprotID: P32248
geneSymbol: CCR7
reactome: R-HSA-380108;R-HSA-418594;
length: 378
go: ENSG00000126353;
snps: rs2228015
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
C-C chemokine receptor type 7 (C-C CKR-7) (CC-CKR-7) (CCR-7) (BLR2) (CDw197) (Epstein-Barr virus-induced G-protein coupled receptor 1) (EBI1) (EBV-induced G-protein coupled receptor 1) (MIP-3 beta receptor) (CD antigen CD197)

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; C-C motif chemokine 19 receptor activity [GO:0038117]; C-C motif chemokine 21 receptor activity [GO:0038121]; chemokine (C-C motif) ligand 19 binding [GO:0035757]; chemokine (C-C motif) ligand 21 binding [GO:0035758]; chemokine binding [GO:0019956]; G protein-coupled receptor activity [GO:0004930]; activation of GTPase activity [GO:0090630]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; cellular response to cytokine stimulus [GO:0071345]; chemotaxis [GO:0006935]; dendritic cell chemotaxis [GO:0002407]; establishment of T cell polarity [GO:0001768]; G protein-coupled receptor signaling pathway [GO:0007186]; homeostasis of number of cells [GO:0048872]; immune response [GO:0006955]; inflammatory response [GO:0006954]; interleukin-12 secretion [GO:0072610]; lymphocyte migration into lymph node [GO:0097022]; mature conventional dendritic cell differentiation [GO:0097029]; myeloid dendritic cell chemotaxis [GO:0002408]; negative regulation of dendritic cell apoptotic process [GO:2000669]; negative thymic T cell selection [GO:0045060]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell motility [GO:2000147]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of dendritic cell antigen processing and presentation [GO:0002606]; positive regulation of dendritic cell chemotaxis [GO:2000510]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation [GO:2000526]; positive regulation of humoral immune response [GO:0002922]; positive regulation of hypersensitivity [GO:0002885]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of immunological synapse formation [GO:2000522]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of JNK cascade [GO:0046330]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of pseudopodium assembly [GO:0031274]; positive regulation of T cell costimulation [GO:2000525]; positive regulation of T cell receptor signaling pathway [GO:0050862]; regulation of dendritic cell dendrite assembly [GO:2000547]; regulation of interferon-gamma production [GO:0032649]; regulation of interleukin-1 beta secretion [GO:0050706]; release of sequestered calcium ion into cytosol [GO:0051209]; response to lipopolysaccharide [GO:0032496]; response to nitric oxide [GO:0071731]; response to prostaglandin E [GO:0034695]; ruffle organization [GO:0031529]


uniprotID: P15289
geneSymbol: ARSA
reactome: R-HSA-1660662;R-HSA-1663150;R-HSA-6798695;
pdb: 1AUK;1E1Z;1E2S;1E33;1E3C;1N2K;1N2L;2AIJ;2AIK;2HI8;
length: 507
go: ENSG00000100299;
drug: DB03821;DB01141;DB04786;
name:
Arylsulfatase A (ASA) (EC 3.1.6.8) (Cerebroside-sulfatase) [Cleaved into: Arylsulfatase A component B; Arylsulfatase A component C]

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; arylsulfatase activity [GO:0004065]; calcium ion binding [GO:0005509]; cerebroside-sulfatase activity [GO:0004098]; sulfuric ester hydrolase activity [GO:0008484]; glycosphingolipid metabolic process [GO:0006687]; neutrophil degranulation [GO:0043312]

snps:
rs199476339 rs199476346 rs199476340 rs199476350 rs199476357 rs199476351 rs199476362 rs6151411 rs74315458 rs199476352 rs74315460 rs199476353 rs199476363 rs74315456 rs199476371 rs74315455 rs74315455 rs199476364 rs74315461 rs121434215 rs74315462 rs60504011 rs199476358 rs199476373 rs199476375 rs199476365 rs199476377 rs74315463 rs74315464 rs74315464 rs199476348 rs74315465 rs74315466 rs199476381 rs74315457 rs199476378 rs199476372 rs199476374 rs6151415 rs199476345 rs199476341 rs74315467 rs148403406 rs199476383 rs74315468 rs199476354 rs74315469 rs74315470 rs199476366 rs74315471 rs199476384 rs199476367 rs74315483 rs80338819 rs74315472 rs199476386 rs199476342 rs28940894 rs74315473 rs199476355 rs199476387 rs199476349 rs199476347 rs74315474 rs199476389 rs74315484 rs199476343 rs199476359 rs199476379 rs199476360 rs199476356 rs199476356 rs74315459 rs199476382 rs199476390 rs199476368 rs148092995 rs74315475 rs2071421 rs6151422 rs199476369 rs74315477 rs74315476 rs199476344 rs74315478 rs6151425 rs74315479 rs199476370 rs199476391 rs74315480 rs743616 rs199476376 rs199476361 rs28940895 rs74315481 rs74315485 rs28940893 rs199476392 rs199476380 rs6151427 rs199476385 rs199476388 rs6151428 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P15289-1; Sequence=Displayed; Name=2; IsoId=P15289-2; Sequence=VSP_046190; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:9342345}. Lysosome {ECO:0000305|PubMed:2562955}.


