# annotation

uniprotID: Q9HC16
geneSymbol: APOBEC3G
reactome: R-HSA-180585;R-HSA-180689;
pdb: 2JYW;2KBO;2KEM;3E1U;3IQS;3IR2;3V4J;3V4K;4ROV;4ROW;6BWY;
length: 384
go: ENSG00000239713;
snps: rs8177832 rs17000736 rs17496046
name:
DNA dC->dU-editing enzyme APOBEC-3G (EC 3.5.4.-) (APOBEC-related cytidine deaminase) (APOBEC-related protein) (ARCD) (APOBEC-related protein 9) (ARP-9) (CEM-15) (CEM15) (Deoxycytidine deaminase) (A3G)

sequence:

opentargets:
apolipoprotein B mRNA editing enzyme complex [GO:0030895]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; P-body [GO:0000932]; ribonucleoprotein complex [GO:1990904]; cytidine deaminase activity [GO:0004126]; dCTP deaminase activity [GO:0008829]; deoxycytidine deaminase activity [GO:0047844]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; base conversion or substitution editing [GO:0016553]; cytidine deamination [GO:0009972]; cytidine to uridine editing [GO:0016554]; defense response to virus [GO:0051607]; DNA cytosine deamination [GO:0070383]; DNA demethylation [GO:0080111]; innate immune response [GO:0045087]; negative regulation of single stranded viral RNA replication via double stranded DNA intermediate [GO:0045869]; negative regulation of transposition [GO:0010529]; negative regulation of viral genome replication [GO:0045071]; negative regulation of viral process [GO:0048525]; positive regulation of defense response to virus by host [GO:0002230]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HC16-1; Sequence=Displayed; Name=3; IsoId=Q9HC16-3; Sequence=VSP_009588, VSP_009589; Note=May be due to a competing donor splice site.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, P-body. Note=Mainly cytoplasmic. Small amount are found in the nucleus. During HIV-1 infection, virion-encapsidated in absence of HIV-1 VIF.


uniprotID: Q9NPB9
geneSymbol: ACKR4
reactome: R-HSA-380108;
length: 350
go: ENSG00000129048;
name:
Atypical chemokine receptor 4 (C-C chemokine receptor type 11) (C-C CKR-11) (CC-CKR-11) (CCR-11) (CC chemokine receptor-like 1) (CCRL1) (CCX CKR)

sequence:

opentargets:
early endosome [GO:0005769]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; scavenger receptor activity [GO:0005044]; 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]

location:
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:23341447}. Recycling endosome {ECO:0000269|PubMed:23341447}. Cell membrane {ECO:0000269|PubMed:23341447}; Multi-pass membrane protein {ECO:0000269|PubMed:23341447}. Note=Predominantly localizes to endocytic vesicles, and upon stimulation by the ligand is internalized via caveolae. Once internalized, the ligand dissociates from the receptor, and is targeted to degradation while the receptor is recycled back to the cell membrane.


uniprotID: Q86TX2
geneSymbol: ACOT1
reactome: R-HSA-77289;
length: 421
go: ENSG00000184227;
snps: rs1049568
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16940157}.
name:
Acyl-coenzyme A thioesterase 1 (Acyl-CoA thioesterase 1) (EC 3.1.2.2) (CTE-I) (CTE-Ib) (Inducible cytosolic acyl-coenzyme A thioester hydrolase) (Long chain acyl-CoA thioester hydrolase) (Long chain acyl-CoA hydrolase)

sequence:

opentargets:
cytosol [GO:0005829]; acyl-CoA hydrolase activity [GO:0047617]; carboxylic ester hydrolase activity [GO:0052689]; myristoyl-CoA hydrolase activity [GO:0102991]; palmitoyl-CoA hydrolase activity [GO:0016290]; acyl-CoA metabolic process [GO:0006637]; fatty acid metabolic process [GO:0006631]; long-chain fatty acid metabolic process [GO:0001676]; very long-chain fatty acid metabolic process [GO:0000038]


uniprotID: Q96QF7
geneSymbol: GCNA
name: Acidic repeat-containing protein (Germ cell nuclear antigen)
length: 691
go: ENSG00000147174;
opentargets: nucleus [GO:0005634]
snps: rs10217999 rs2280962
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27718356, ECO:0000305|PubMed:11714101}.
sequence:


uniprotID: Q9UKU0
geneSymbol: ACSL6
reactome: R-HSA-75876;
name: Long-chain-fatty-acid--CoA ligase 6 (EC 6.2.1.3) (Long-chain acyl-CoA synthetase 6) (LACS 6)
length: 697
go: ENSG00000164398;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; peroxisomal membrane [GO:0005778]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; decanoate-CoA ligase activity [GO:0102391]; enzyme binding [GO:0019899]; long-chain fatty acid-CoA ligase activity [GO:0004467]; protein homodimerization activity [GO:0042803]; acyl-CoA metabolic process [GO:0006637]; long-chain fatty acid metabolic process [GO:0001676]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; neuroblast proliferation [GO:0007405]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=4; IsoId=Q9UKU0-4; Sequence=Displayed; Name=1; Synonyms=Long, v2; IsoId=Q9UKU0-1; Sequence=VSP_037819; Name=2; Synonyms=Short; IsoId=Q9UKU0-2; Sequence=VSP_021024, VSP_000241; Note=No experimental confirmation available.; Name=3; IsoId=Q9UKU0-3; Sequence=VSP_021024; Note=No experimental confirmation available.; Name=5; Synonyms=v4; IsoId=Q9UKU0-5; Sequence=VSP_037823; Name=6; Synonyms=v5; IsoId=Q9UKU0-6; Sequence=VSP_037821; Name=7; Synonyms=v3; IsoId=Q9UKU0-7; Sequence=VSP_037820, VSP_037822; Name=8; Synonyms=v1; IsoId=Q9UKU0-8; Sequence=VSP_037819, VSP_021024; Note=No experimental confirmation available.; Name=9; IsoId=Q9UKU0-9; Sequence=VSP_046954; Note=No experimental confirmation available.; 


uniprotID: Q8N4X5
geneSymbol: AFAP1L2
pdb: 2COF;
name: Actin filament-associated protein 1-like 2 (AFAP1-like protein 2)
length: 818
go: ENSG00000169129;
snps: rs11196689 rs7075067 rs2781806 rs11599051
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17412687}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; protein tyrosine kinase activator activity [GO:0030296]; SH2 domain binding [GO:0042169]; SH3 domain binding [GO:0017124]; signaling adaptor activity [GO:0035591]; inflammatory response [GO:0006954]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of interleukin-6 production [GO:0032675]; regulation of mitotic cell cycle [GO:0007346]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N4X5-1; Sequence=Displayed; Name=2; IsoId=Q8N4X5-2; Sequence=VSP_014255; Name=3; IsoId=Q8N4X5-3; Sequence=VSP_014254, VSP_014256; Name=4; IsoId=Q8N4X5-4; Sequence=VSP_036211, VSP_014255; 


uniprotID: P18825
geneSymbol: ADRA2C
reactome: R-HSA-390696;R-HSA-392023;R-HSA-400042;R-HSA-418594;R-HSA-418597;R-HSA-5683826;
length: 462
go: ENSG00000184160;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Alpha-2C adrenergic receptor (Alpha-2 adrenergic receptor subtype C4) (Alpha-2C adrenoreceptor) (Alpha-2C adrenoceptor) (Alpha-2CAR)

sequence:

opentargets:
axon terminus [GO:0043679]; cytoplasm [GO:0005737]; endosome [GO:0005768]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; adrenergic receptor activity [GO:0004935]; alpha-2A adrenergic receptor binding [GO:0031694]; alpha2-adrenergic receptor activity [GO:0004938]; epinephrine binding [GO:0051379]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; activation of protein kinase B activity [GO:0032148]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; adrenergic receptor signaling pathway [GO:0071875]; cell-cell signaling [GO:0007267]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of epinephrine secretion [GO:0032811]; negative regulation of norepinephrine secretion [GO:0010700]; negative regulation of uterine smooth muscle contraction [GO:0070473]; platelet activation [GO:0030168]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of vasoconstriction [GO:0045907]; receptor transactivation [GO:0035624]; regulation of insulin secretion [GO:0050796]; regulation of sensory perception of pain [GO:0051930]

drug:
DB08838;DB00543;DB00182;DB00714;DB01238;DB06216;DB00217;DB09128;DB00484;DB01200;DB00248;DB01136;DB00477;DB09202;DB00575;DB00363;DB01151;DB01142;DB04855;DB06262;DB01363;DB05492;DB00668;DB01049;DB06678;DB00800;DB04946;DB06707;DB00589;DB00408;DB08815;DB00934;DB01365;DB01577;DB01403;DB06148;DB00370;DB00368;DB00540;DB00334;DB05461;DB00935;DB01267;DB01186;DB00925;DB00413;DB01224;DB00734;DB00268;DB13025;DB00697;DB00797;DB06694;DB01392;DB00246;


uniprotID: Q8IZF7
geneSymbol: ADGRF2
length: 708
snps: rs6907125 rs9381594
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
name:
Adhesion G-protein coupled receptor F2 (G-protein coupled receptor 111) (G-protein coupled receptor PGR20)

sequence:

opentargets:
integral component of membrane [GO:0016021]; G protein-coupled receptor activity [GO:0004930]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZF7-1; Sequence=Displayed; Name=2; IsoId=Q8IZF7-2; Sequence=VSP_040379, VSP_040380, VSP_040381; 


uniprotID: Q01814
geneSymbol: ATP2B2
reactome: R-HSA-418359;R-HSA-5578775;R-HSA-936837;
length: 1243
go: ENSG00000157087;
name:
Plasma membrane calcium-transporting ATPase 2 (PMCA2) (EC 3.6.3.8) (Plasma membrane calcium ATPase isoform 2) (Plasma membrane calcium pump isoform 2)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; presynapse [GO:0098793]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; calcium-transporting ATPase activity [GO:0005388]; calcium-transporting ATPase activity involved in regulation of postsynaptic cytosolic calcium ion concentration [GO:1905059]; calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration [GO:1905056]; calmodulin binding [GO:0005516]; metal ion binding [GO:0046872]; PDZ domain binding [GO:0030165]; protein C-terminus binding [GO:0008022]; calcium ion transport [GO:0006816]; cellular calcium ion homeostasis [GO:0006874]; ion transmembrane transport [GO:0034220]; neuron differentiation [GO:0030182]; regulation of cardiac conduction [GO:1903779]; regulation of cytosolic calcium ion concentration [GO:0051480]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=There is a combination of two alternative spliced domains at N-terminal site A (Z, X, Y and W) and at C-terminal site C (A and B). So far the splice sites have only been studied independently. Experimental confirmation may be lacking for some isoforms.; Name=WB; Synonyms=AIIICI; IsoId=Q01814-1; Sequence=Displayed; Name=WA; Synonyms=AIIICII; IsoId=Q01814-2; Sequence=VSP_000386; Name=YA; Synonyms=AIICII; IsoId=Q01814-3; Sequence=VSP_000385, VSP_000386; Name=ZA; Synonyms=AICII; IsoId=Q01814-4; Sequence=VSP_000384, VSP_000386; Name=YB; Synonyms=AIICI; IsoId=Q01814-5; Sequence=VSP_000385; Name=ZB; Synonyms=AICI; IsoId=Q01814-6; Sequence=VSP_000384; Name=XA; IsoId=Q01814-7; Sequence=VSP_040837, VSP_000386; Name=XB; IsoId=Q01814-8; Sequence=VSP_040837; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse {ECO:0000250|UniProtKB:Q9R0K7}. Cell membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q00534
geneSymbol: CDK6
reactome: R-HSA-2559580;R-HSA-2559582;R-HSA-2559585;R-HSA-69231;R-HSA-8934593;
pdb: 1BI7;1BI8;1BLX;1G3N;1JOW;1XO2;2EUF;2F2C;3NUP;3NUX;4AUA;4EZ5;4TTH;5L2I;5L2S;5L2T;
length: 326
go: ENSG00000105810;
drug: DB07379;DB03496;DB09073;DB11730;
snps: rs35654944 rs606231255
name:
Cyclin-dependent kinase 6 (EC 2.7.11.22) (Cell division protein kinase 6) (Serine/threonine-protein kinase PLSTIRE)

sequence:

opentargets:
centrosome [GO:0005813]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ruffle [GO:0001726]; ATP binding [GO:0005524]; cyclin binding [GO:0030332]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; FBXO family protein binding [GO:0098770]; astrocyte development [GO:0014002]; cell cycle arrest [GO:0007050]; cell dedifferentiation [GO:0043697]; cell division [GO:0051301]; dentate gyrus development [GO:0021542]; G1/S transition of mitotic cell cycle [GO:0000082]; generation of neurons [GO:0048699]; gliogenesis [GO:0042063]; lateral ventricle development [GO:0021670]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell differentiation [GO:0045596]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cellular senescence [GO:2000773]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of monocyte differentiation [GO:0045656]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of osteoblast differentiation [GO:0045668]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of fibroblast proliferation [GO:0048146]; protein phosphorylation [GO:0006468]; regulation of cell motility [GO:2000145]; regulation of erythrocyte differentiation [GO:0045646]; regulation of gene expression [GO:0010468]; response to virus [GO:0009615]; type B pancreatic cell development [GO:0003323]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell projection, ruffle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23918663}. Note=Localized to the ruffling edge of spreading fibroblasts. Kinase activity only in nucleus. Localized to the cytosol of neurons and showed prominent staining around either side of the nucleus (By similarity). Present in the cytosol and in the nucleus in interphase cells and at the centrosome during mitosis from prophase to telophase (PubMed:23918663). {ECO:0000250|UniProtKB:Q64261, ECO:0000269|PubMed:23918663}.


uniprotID: Q99941
geneSymbol: ATF6B
length: 703
go: ENSG00000213676;
name:
Cyclic AMP-dependent transcription factor ATF-6 beta (cAMP-dependent transcription factor ATF-6 beta) (Activating transcription factor 6 beta) (ATF6-beta) (Protein G13) (cAMP response element-binding protein-related protein) (Creb-rp) (cAMP-responsive element-binding protein-like 1) [Cleaved into: Processed cyclic AMP-dependent transcription factor ATF-6 beta]

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of endoplasmic reticulum membrane [GO:0030176]; intracellular [GO:0005622]; nucleolus [GO:0005730]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; RNA polymerase II transcription factor complex [GO:0090575]; cAMP response element binding [GO:0035497]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription regulatory region DNA binding [GO:0044212]; ATF6-mediated unfolded protein response [GO:0036500]; negative regulation of ATF6-mediated unfolded protein response [GO:1903892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990440]; signal transduction [GO:0007165]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q99941-1; Sequence=Displayed; Name=1; IsoId=Q99941-2; Sequence=VSP_000593; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: Processed cyclic AMP-dependent transcription factor ATF-6 beta: Nucleus. Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus.


uniprotID: Q16667
geneSymbol: CDKN3
pdb: 1FPZ;1FQ1;
length: 212
go: ENSG00000100526;
snps: rs760687800 rs144479038 rs1803843
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:10669749}.
name:
Cyclin-dependent kinase inhibitor 3 (EC 3.1.3.16) (EC 3.1.3.48) (CDK2-associated dual-specificity phosphatase) (Cyclin-dependent kinase interactor 1) (Cyclin-dependent kinase-interacting protein 2) (Kinase-associated phosphatase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; cell cycle arrest [GO:0007050]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of cell proliferation [GO:0008285]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16667-1; Sequence=Displayed; Name=2; IsoId=Q16667-2; Sequence=VSP_036613; 


uniprotID: Q99766
geneSymbol: ATP5S
reactome: R-HSA-163210;R-HSA-8949613;
length: 215
go: ENSG00000125375;
snps: rs2275592
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Mitochondrion inner membrane {ECO:0000250}.
name:
ATP synthase subunit s, mitochondrial (ATP synthase-coupling factor B) (FB) (Mitochondrial ATP synthase regulatory component factor B)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; proton-transporting ATP synthase complex, coupling factor F(o) [GO:0045263]; metal ion binding [GO:0046872]; proton transmembrane transporter activity [GO:0015078]; ATP biosynthetic process [GO:0006754]; cristae formation [GO:0042407]; proton transmembrane transport [GO:1902600]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99766-1; Sequence=Displayed; Name=2; IsoId=Q99766-2; Sequence=VSP_040059, VSP_040062; Name=3; IsoId=Q99766-3; Sequence=VSP_040060, VSP_040061; 


uniprotID: P46527
geneSymbol: CDKN1B
pdb: 1H27;1JSU;2AST;5UQ3;6ATH;
name: Cyclin-dependent kinase inhibitor 1B (Cyclin-dependent kinase inhibitor p27) (p27Kip1)
length: 198
go: ENSG00000111276;
snps: rs2066828 rs777354267 rs2066827
reactome:
R-HSA-187577;R-HSA-198323;R-HSA-2559582;R-HSA-2559586;R-HSA-5625900;R-HSA-5674400;R-HSA-6804116;R-HSA-69202;R-HSA-69231;R-HSA-69563;R-HSA-69656;R-HSA-8849470;

sequence:
MSNVRVSNGSPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKWNFDFQNHKPLEGKYEWQEVEKGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIGAPANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRPATDDSSTQNKRANRTEENVSDGSPNAGSVEQTPKKPGLRRRQT

opentargets:
Cul4A-RING E3 ubiquitin ligase complex [GO:0031464]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome [GO:0005768]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; chaperone binding [GO:0051087]; cyclin binding [GO:0030332]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; Hsp70 protein binding [GO:0030544]; protein kinase binding [GO:0019901]; protein kinase inhibitor activity [GO:0004860]; protein phosphatase binding [GO:0019903]; protein-containing complex binding [GO:0044877]; transforming growth factor beta receptor, cytoplasmic mediator activity [GO:0005072]; autophagic cell death [GO:0048102]; cell cycle arrest [GO:0007050]; cellular response to antibiotic [GO:0071236]; cellular response to lithium ion [GO:0071285]; cellular response to organic cyclic compound [GO:0071407]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; G1/S transition of mitotic cell cycle [GO:0000082]; inner ear development [GO:0048839]; mitotic cell cycle arrest [GO:0071850]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cellular component movement [GO:0051271]; negative regulation of cyclin-dependent protein kinase activity [GO:1904030]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of epithelial cell proliferation involved in prostate gland development [GO:0060770]; negative regulation of kinase activity [GO:0033673]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of phosphorylation [GO:0042326]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; Notch signaling pathway [GO:0007219]; placenta development [GO:0001890]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell death [GO:0010942]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of protein catabolic process [GO:0045732]; potassium ion transport [GO:0006813]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of exit from mitosis [GO:0007096]; regulation of lens fiber cell differentiation [GO:1902746]; response to amino acid [GO:0043200]; response to cadmium ion [GO:0046686]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to glucose [GO:0009749]; response to hypoxia [GO:0001666]; response to peptide hormone [GO:0043434]; sensory perception of sound [GO:0007605]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Endosome {ECO:0000250}. Note=Nuclear and cytoplasmic in quiescent cells. AKT- or RSK-mediated phosphorylation on Thr-198, binds 14-3-3, translocates to the cytoplasm and promotes cell cycle progression. Mitogen-activated UHMK1 phosphorylation on Ser-10 also results in translocation to the cytoplasm and cell cycle progression. Phosphorylation on Ser-10 facilitates nuclear export. Translocates to the nucleus on phosphorylation of Tyr-88 and Tyr-89. Colocalizes at the endosome with SNX6; this leads to lysosomal degradation (By similarity). {ECO:0000250}.


uniprotID: P42771
geneSymbol: CDKN2A
reactome: R-HSA-2559580;R-HSA-2559582;R-HSA-2559585;R-HSA-69231;
pdb: 1A5E;1BI7;1DC2;2A5E;
length: 156
go: ENSG00000147889;
name:
Cyclin-dependent kinase inhibitor 2A (Cyclin-dependent kinase 4 inhibitor A) (CDK4I) (Multiple tumor suppressor 1) (MTS-1) (p16-INK4a) (p16-INK4) (p16INK4A)

sequence:
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; senescence-associated heterochromatin focus [GO:0035985]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; NF-kappaB binding [GO:0051059]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; cell cycle arrest [GO:0007050]; cellular senescence [GO:0090398]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of phosphorylation [GO:0042326]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cellular senescence [GO:2000774]; positive regulation of macrophage apoptotic process [GO:2000111]; positive regulation of smooth muscle cell apoptotic process [GO:0034393]; Ras protein signal transduction [GO:0007265]; replicative senescence [GO:0090399]; senescence-associated heterochromatin focus assembly [GO:0035986]

snps:
rs760065045 rs1064794292 rs104894097 rs104894097 rs878853650 rs746834149 rs746834149 rs199907548 rs587778189 rs104894095 rs104894109 rs372266620 rs104894099 rs769382085 rs36204594 rs758389471 rs876658534 rs1060501260 rs372670098 rs559848002 rs760640852 rs11552823 rs34968276 rs121913385 rs11552822 rs11552822 rs878853646 rs878853647 rs749714198 rs137854599 rs137854597 rs754806883 rs34886500 rs104894094 rs137854598 rs35741010 rs370823171 rs121913381 rs121913386 rs104894104 rs113798404 rs113798404 rs6413463 rs34170727 rs747621669 rs104894098 rs6413464 rs757497674 rs116150891 rs3731249 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Isoform 1 and isoform tumor suppressor ARF arise due to the use of two alternative first exons joined to a common exon 2 at the same acceptor site but in different reading frames, resulting in two completely different isoforms.; Name=1; Synonyms=p16INK4a; IsoId=P42771-1; Sequence=Displayed; Name=2; IsoId=P42771-2; Sequence=VSP_015864; Name=3; Synonyms=p12; IsoId=P42771-3; Sequence=VSP_015865, VSP_015866; Name=tumor suppressor ARF; Synonyms=p14ARF, p19ARF; IsoId=Q8N726-1; Sequence=External; Name=5; Synonyms=p16gamma; IsoId=P42771-4; Sequence=VSP_043577; Note=Barely detectable in non-tumor cells.; Name=smARF; IsoId=Q8N726-2; Sequence=External; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17658461}. Nucleus {ECO:0000269|PubMed:17658461}.


uniprotID: P42773
geneSymbol: CDKN2C
reactome: R-HSA-2559580;R-HSA-2559582;R-HSA-2559585;R-HSA-69231;
pdb: 1BU9;1G3N;1IHB;1MX2;1MX4;1MX6;
name: Cyclin-dependent kinase 4 inhibitor C (Cyclin-dependent kinase 6 inhibitor) (p18-INK4c) (p18-INK6)
length: 168
go: ENSG00000123080;
snps: rs17851380
sequence:
MAEPWGNELASAAARGDLEQLTSLLQNNVNVNAQNGFGRTALQVMKLGNPEIARRLLLRGANPDLKDRTGFAVIHDAARAGFLDTLQTLLEFQADVNIEDNEGNLPLHLAAKEGHLRVVEFLVKHTASNVGHRNHKGDTACDLARLYGRNEVVSLMQANGAGGATNLQ

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; protein kinase binding [GO:0019901]; cell cycle arrest [GO:0007050]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of phosphorylation [GO:0042326]; oligodendrocyte differentiation [GO:0048709]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]


uniprotID: Q9Y232
geneSymbol: CDYL
pdb: 2DNT;2GTR;
name: Chromodomain Y-like protein (CDY-like) (Crotonyl-CoA hydratase) (EC 4.2.1.-)
length: 598
go: ENSG00000153046;
snps: rs3812179 rs3812178 rs13196069 rs28360500
sequence:

opentargets:
chromosome [GO:0005694]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; crotonyl-CoA hydratase activity [GO:0120092]; methylated histone binding [GO:0035064]; protein binding, bridging [GO:0030674]; transcription corepressor activity [GO:0003714]; negative regulation of peptidyl-lysine crotonylation [GO:0120094]; random inactivation of X chromosome [GO:0060816]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=a {ECO:0000303|PubMed:19808672}, CDYL1a {ECO:0000303|PubMed:19808672}; IsoId=Q9Y232-1; Sequence=Displayed; Name=2; Synonyms=b {ECO:0000303|PubMed:19808672}, CDYL1b {ECO:0000303|PubMed:19808672}; IsoId=Q9Y232-2; Sequence=VSP_026383, VSP_026384; Note=Major isoform. {ECO:0000269|PubMed:19808672}; Name=3; Synonyms=c {ECO:0000303|PubMed:19808672}, CDYL1c {ECO:0000303|PubMed:19808672}; IsoId=Q9Y232-3; Sequence=VSP_026382; Name=4; IsoId=Q9Y232-4; Sequence=VSP_041025; 

location:
SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:18450745, ECO:0000269|PubMed:19808672}. Chromosome {ECO:0000269|PubMed:19808672}. Note=Recognizes and binds histone H3 trimethylated at 'Lys-9', dimethylated at 'Lys-27' and trimethylated at 'Lys-27' (H3K9me3, H3K27me2 and H3K27me3, respectively) on chromatin (PubMed:19808672). Multimerization is required for chromatin-binding (PubMed:19808672). {ECO:0000269|PubMed:19808672}.


uniprotID: Q7Z6I8
geneSymbol: C5orf24
name: UPF0461 protein C5orf24
length: 188
go: ENSG00000181904;
sequence:
MMHPVASSNPAFCGPGKPSCLNEDAMRAADQFDIYSSQQSKYSHTVNHKPMVCQRQDPLNETHLQTTSGRSIEIKDELKKKKNLNRSGKRGRPSGTTKSAGYRTSTGRPLGTTKAAGFKTSPGRPLGTTKAAGYKVSPGRPPGSIKALSRLADLGYGCGTAAFPYPMMHGRAVHGVEETSSEVKPPNE

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z6I8-1; Sequence=Displayed; Name=2; IsoId=Q7Z6I8-2; Sequence=VSP_027011; 


uniprotID: Q96MH7
geneSymbol: C5orf34
name: Uncharacterized protein C5orf34
length: 638
snps: rs6872851
sequence:


uniprotID: A4QMS7
geneSymbol: C5orf49
name: Uncharacterized protein C5orf49
length: 147
go: ENSG00000215217;
snps: rs6883562 rs16879215 rs326181
sequence:
MEDDEEETTASTLRGKPRPPPVSAQSAFSYIPPRRLDPKEHSYYYRPARTGIISLYDCIFKRRLDYDQKLHRDDREHAKSLGLHVNEEEQERPVGVLTSSVYGKRINQPIEPLNRDFGRANHVQADFYRKNDIPSLKEPGFGHIAPS


uniprotID: Q8N8D9
geneSymbol: C5orf56
name: Uncharacterized protein C5orf56
length: 126
sequence:
MDSLAAGELNASHQPWVPEFVAYWRKTHQGNLQTLLLHWLLLCSCLHHLYNASCHPAFPVEYSHAVCCLQPRFWKEMSPFSSSSTTHLFSKCFFYTCLCWAWQQCSSEQNHQPCSHAAYNQVERQT

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N8D9-1; Sequence=Displayed; Name=2; IsoId=Q8N8D9-2; Sequence=VSP_031299; Note=No experimental confirmation available.; 


uniprotID: C9J3I9
geneSymbol: C5orf58
name: Putative uncharacterized protein C5orf58
length: 102
sequence:
MREIAEILPAQEKVEARIDLKMGKKRVTDHKLNVDKVIKNINTISSELKKIKELSQLLLCDLILHFNHPIKTENLAEAERNNPLFEESKISDVSLVSNSFSI


uniprotID: Q2M2E5
geneSymbol: C5orf64
name: Uncharacterized protein C5orf64
length: 130
opentargets: extracellular region [GO:0005576]
snps: rs16893687 rs436696
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MLAPLFLCCLRNLFRKLISFQPPQLGRTNMHYSKLPRTAIETEFKQNVGPPPKDLTAEVYFPSIKSRSHLPAVFYNQYFKHPKCVGEYGPKNGAERQIEERKVLPTTMMFSMLADCVLKSTPIPILGVAM


uniprotID: Q9H5L9
geneSymbol: C5orf66
name: Putative uncharacterized protein C5orf66
length: 145
sequence:
MGITPWPKGHTEPKGSYSLRKKPCYGTVAALDCAGCQEGMAEAASVGLAQSESTTIMGHVCAERHTHDRYVTSMCPYLPLPMDGNAMDFSFLSSARAKQFFTVFSRSSSHLSAPQTGLLQWITNLAGRPWPALTAASGAGMKQKQ


uniprotID: O94986
geneSymbol: CEP152
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
pdb: 4N7V;
name: Centrosomal protein of 152 kDa (Cep152)
length: 1710
go: ENSG00000103995;
snps: rs2289181 rs267606717 rs200879436 rs2289178 rs16961560 rs16961557
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; deuterosome [GO:0098536]; nucleoplasm [GO:0005654]; pericentriolar material [GO:0000242]; protein kinase binding [GO:0019901]; centriole replication [GO:0007099]; centrosome duplication [GO:0051298]; ciliary basal body-plasma membrane docking [GO:0097711]; de novo centriole assembly involved in multi-ciliated epithelial cell differentiation [GO:0098535]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; IsoId=O94986-4; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=1; IsoId=O94986-1; Sequence=VSP_035981, VSP_035983, VSP_035984; Name=2; IsoId=O94986-2; Sequence=VSP_035983, VSP_035984; Name=3; IsoId=O94986-3; Sequence=VSP_047002; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:20598275, ECO:0000269|PubMed:21059844, ECO:0000269|PubMed:21131973, ECO:0000269|PubMed:21983783, ECO:0000269|PubMed:26297806}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:21983783, ECO:0000269|PubMed:22020124, ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:26337392}. Note=Colocalizes with CDK5RAP2, WDR62 and CEP63 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles (PubMed:21983783, PubMed:26297806). Localizes to the deuterosome (By similarity). Localizes to pericentriolar material (PCM) (PubMed:26337392). {ECO:0000250|UniProtKB:Q498G2, ECO:0000269|PubMed:21983783, ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:26337392}.


uniprotID: Q8TEP8
geneSymbol: CEP192
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
pdb: 4N7Z;
name: Centrosomal protein of 192 kDa (Cep192) (Cep192/SPD-2)
length: 2537
go: ENSG00000101639;
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; pericentriolar material [GO:0000242]; phosphatase binding [GO:0019902]; centrosome duplication [GO:0051298]; centrosome-templated microtubule nucleation [GO:0090222]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; mitotic spindle assembly [GO:0090307]; negative regulation of phosphatase activity [GO:0010923]; protein localization to centrosome [GO:0071539]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; response to bacterium [GO:0009617]

snps:
rs10048340 rs11080623 rs2282542 rs7228940 rs578208 rs6505780 rs2027698 rs474337 rs3737379 rs1786263 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q8TEP8-3; Sequence=Displayed; Name=1; IsoId=Q8TEP8-1; Sequence=VSP_059657; Name=2; IsoId=Q8TEP8-2; Sequence=VSP_059657, VSP_059658, VSP_059659; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:17980596, ECO:0000269|PubMed:18207742}. Note=Pericentriolar location in mitotic centrosomes.


uniprotID: Q5VT06
geneSymbol: CEP350
pdb: 2COZ;
name: Centrosome-associated protein 350 (Cep350) (Centrosome-associated protein of 350 kDa)
length: 3117
go: ENSG00000135837;
snps: rs6692219 rs2477120 rs12125245 rs16855164 rs16855164 rs12124336 rs56173179
sequence:

opentargets:
cell projection [GO:0042995]; centriole [GO:0005814]; centrosome [GO:0005813]; membrane [GO:0016020]; nucleus [GO:0005634]; spindle [GO:0005819]; microtubule binding [GO:0008017]; microtubule anchoring [GO:0034453]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:16314388, ECO:0000269|PubMed:19052644, ECO:0000269|PubMed:28659385}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16314388}. Nucleus {ECO:0000269|PubMed:15615782}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:28659385}. Note=Associated with mitotic spindles (PubMed:16314388). Nuclear, in discrete foci. Associated with intermediate filaments (PubMed:15615782). Also present in the pericentrosomal area (PubMed:17878239). Localizes on both mother and daughter centrioles. Localizes to an axial position on the mother centriole (PubMed:28625565). Localizes to the distal end of the centriole on the subdistal appendage region (PubMed:28659385). {ECO:0000269|PubMed:15615782, ECO:0000269|PubMed:16314388, ECO:0000269|PubMed:17878239, ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385}.


uniprotID: P30049
geneSymbol: ATP5F1D
reactome: R-HSA-163210;R-HSA-8949613;
name: ATP synthase subunit delta, mitochondrial (ATP synthase F1 subunit delta) (F-ATPase delta subunit)
length: 168
go: ENSG00000099624;
drug: DB01189;DB00228;DB01159;DB00753;DB01028;DB01236;
location: SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane.
sequence:
MLPAALLRRPGLGRLVRHARAYAEAAAAPAAASGPNQMSFTFASPTQVFFNGANVRQVDVPTLTGAFGILAAHVPTLQVLRPGLVVVHAEDGTTSKYFVSSGSIAVNADSSVQLLAEEAVTLDMLDLGAAKANLEKAQAELVGTADEATRAEIQIRIEANEALVKALE

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) [GO:0000275]; mitochondrion [GO:0005739]; ATPase activity [GO:0016887]; proton-transporting ATP synthase activity, rotational mechanism [GO:0046933]; transmembrane transporter activity [GO:0022857]; transporter activity [GO:0005215]; ATP biosynthetic process [GO:0006754]; ATP synthesis coupled proton transport [GO:0015986]; cristae formation [GO:0042407]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]; oxidative phosphorylation [GO:0006119]; response to copper ion [GO:0046688]


uniprotID: Q86SI9
geneSymbol: C5orf38
name: Protein CEI (Coordinated expression to IRXA2 protein)
length: 138
go: ENSG00000186493;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MVAPAARVFLRAVRAALTSTVPDLLCLLARGSPRGLASGRLPLAVHSAQHGPGSGAPWLRIARRALRFVLSKHWGDDCYLTNRLWQDLKPPSHVENGQELRLAPPVQWALQVQGNQLQTAVLCLRMAPPEPAGSRQRI

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CEIa; IsoId=Q86SI9-1; Sequence=Displayed; Name=2; Synonyms=CEIb; IsoId=Q86SI9-2; Sequence=VSP_026648; Name=3; Synonyms=CEIc; IsoId=Q86SI9-3; Sequence=VSP_026649; 


uniprotID: Q9BZC1
geneSymbol: CELF4
pdb: 2DGP;2DNK;
length: 486
go: ENSG00000101489;
snps: rs12458669
name:
CUGBP Elav-like family member 4 (CELF-4) (Bruno-like protein 4) (CUG-BP- and ETR-3-like factor 4) (RNA-binding protein BRUNOL-4)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; BRE binding [GO:0042835]; mRNA binding [GO:0003729]; pre-mRNA binding [GO:0036002]; RNA binding [GO:0003723]; translation repressor activity, mRNA regulatory element binding [GO:0000900]; alternative mRNA splicing, via spliceosome [GO:0000380]; embryo development ending in birth or egg hatching [GO:0009792]; germ cell development [GO:0007281]; mRNA splice site selection [GO:0006376]; negative regulation of excitatory postsynaptic potential [GO:0090394]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of retina development in camera-type eye [GO:1902866]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BZC1-1; Sequence=Displayed; Name=2; IsoId=Q9BZC1-2; Sequence=VSP_026829, VSP_026831; Name=3; IsoId=Q9BZC1-3; Sequence=VSP_026829, VSP_026830; Name=4; IsoId=Q9BZC1-4; Sequence=VSP_026830; Name=5; IsoId=Q9BZC1-5; Sequence=VSP_026828, VSP_026832; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14973222}. Cytoplasm {ECO:0000269|PubMed:14973222}.


uniprotID: Q8WUJ3
geneSymbol: CEMIP
reactome: R-HSA-2142850;
name: Cell migration-inducing and hyaluronan-binding protein (EC 3.2.1.35)
length: 1361
go: ENSG00000103888;
snps: rs368854657 rs144446375 rs12441101 rs996035812 rs751807711 rs16972583
sequence:

opentargets:
clathrin-coated endocytic vesicle [GO:0045334]; clathrin-coated pit [GO:0005905]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; clathrin heavy chain binding [GO:0032050]; ER retention sequence binding [GO:0046923]; hyaluronic acid binding [GO:0005540]; hyalurononglucosaminidase activity [GO:0004415]; hyaluronan biosynthetic process [GO:0030213]; hyaluronan catabolic process [GO:0030214]; positive regulation of cell migration [GO:0030335]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of protein kinase C activity [GO:1900020]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WUJ3-1; Sequence=Displayed; Name=2; IsoId=Q8WUJ3-2; Sequence=VSP_009814, VSP_009815; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Endoplasmic reticulum. Cell membrane. Membrane, clathrin-coated pit. Secreted. Note=Retained in the endoplasmic reticulum (ER) in a HSPA5/BIP-dependent manner. Colocalized with clathrin heavy chain/CLTC in clathrin-coated vesicles. Strongly detected in the cytoplasm of breast carcinoma cells, whereas poorly detected in adjacent normal epithelial cells, stromal cells, or benign breast tissues. Localized in the nucleus and cytoplasm of colon adenocarcinomas.


uniprotID: A0A0U1RRI6
geneSymbol: CENPVL3
name: Centromere protein V-like protein 3 (Centromere protein V pseudogene 3)
length: 287
opentargets: carbon-sulfur lyase activity [GO:0016846]
sequence:


uniprotID: A8MT69
geneSymbol: CENPX
reactome: R-HSA-606279;R-HSA-6783310;
pdb: 4DRA;4DRB;4E44;4E45;4NDY;4NE1;4NE3;4NE5;4NE6;
sequence: MEGAGAGSGFRKELVSRLLHLHFKDDKTKVSGDALQLMVELLKVFVVEAAVRGVRQAQAEDALRVDVDQLEKVLPQLLLDF
length: 81
go: ENSG00000169689;
name:
Centromere protein X (CENP-X) (FANCM-associated histone fold protein 2) (FANCM-interacting histone fold protein 2) (Fanconi anemia-associated polypeptide of 10 kDa) (Retinoic acid-inducible gene D9 protein homolog) (Stimulated by retinoic acid gene 13 protein homolog)

opentargets:
condensed chromosome kinetochore [GO:0000777]; FANCM-MHF complex [GO:0071821]; Fanconi anaemia nuclear complex [GO:0043240]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; double-stranded DNA binding [GO:0003690]; cell division [GO:0051301]; CENP-A containing nucleosome assembly [GO:0034080]; interstrand cross-link repair [GO:0036297]; kinetochore assembly [GO:0051382]; positive regulation of protein ubiquitination [GO:0031398]; replication fork processing [GO:0031297]; resolution of meiotic recombination intermediates [GO:0000712]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A8MT69-1; Sequence=Displayed; Name=2; Synonyms=Variant A; IsoId=A8MT69-2; Sequence=VSP_033948; Name=3; Synonyms=Variant B; IsoId=A8MT69-3; Sequence=VSP_033948, VSP_033949; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19620631, ECO:0000269|PubMed:24522885}. Chromosome, centromere {ECO:0000269|PubMed:19620631, ECO:0000269|PubMed:24522885}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:19620631, ECO:0000269|PubMed:24522885}. Note=Assembly of CENPS and CENPX and its partner subunits CENPT and CENPW at centromeres occurs through a dynamic exchange mechanism. Although exchange is continuous in the cell cycle, de novo assembly starts principally during mid-late S phase and is complete by G2. CENPX being less stably bound at the kinetochore than CENPS. {ECO:0000269|PubMed:19620631, ECO:0000269|PubMed:24522885}.


uniprotID: Q9C0F1
geneSymbol: CEP44
name: Centrosomal protein of 44 kDa (Cep44) (HBV PreS1-transactivated protein 3) (PS1TP3)
length: 390
go: ENSG00000164118;
opentargets: centrosome [GO:0005813]; cytoplasm [GO:0005737]; midbody [GO:0030496]; spindle pole [GO:0000922]
snps: rs4695918
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C0F1-1; Sequence=Displayed; Name=2; IsoId=Q9C0F1-2; Sequence=VSP_041378; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:21399614}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:21399614}. Midbody {ECO:0000269|PubMed:21399614}. Note=Localizes to centrosomes, spindle poles, and weakly in midbody.


uniprotID: Q6V702
geneSymbol: CFAP299
name: Cilia- and flagella-associated protein 299
length: 233
go: ENSG00000197826;
snps: rs11947742 rs1052325
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=Q6V702-2; Sequence=Displayed; Name=1; IsoId=Q6V702-1; Sequence=VSP_037233; Name=3; IsoId=Q6V702-3; Sequence=VSP_037234, VSP_037235; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: A5D8W1
geneSymbol: CFAP69
name: Cilia- and flagella-associated protein 69
length: 941
go: ENSG00000105792;
snps: rs17862129 rs17866223 rs17865959 rs1029365 rs1134956
sequence:

opentargets:
cytoplasm [GO:0005737]; non-motile cilium [GO:0097730]; sperm midpiece [GO:0097225]; olfactory behavior [GO:0042048]; positive regulation of fertilization [GO:1905516]; positive regulation of flagellated sperm motility [GO:1902093]; response to odorant [GO:1990834]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=A5D8W1-1; Sequence=Displayed; Name=2; IsoId=A5D8W1-2; Sequence=VSP_031676; Note=Incomplete sequence.; Name=3; IsoId=A5D8W1-3; Sequence=VSP_031674, VSP_031675; Name=4; IsoId=A5D8W1-4; Sequence=VSP_031673, VSP_031674, VSP_031675; Note=No experimental confirmation available.; Name=5; IsoId=A5D8W1-5; Sequence=VSP_036548; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q8BH53}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:29606301}. Note=Localizes to the midpiece of the sperm flagellum. {ECO:0000269|PubMed:29606301}.


uniprotID: Q7Z4T9
geneSymbol: MAATS1
length: 767
go: ENSG00000183833;
snps: rs6438544 rs9817771 rs9819218
name:
Cilia- and flagella-associated protein 91 (CFAP91) (AMY-1-associating protein expressed in testis 1) (AAT-1) (MYCBP/AMY-1-associated testis-expressed protein 1) (Protein MAATS1)

sequence:

opentargets:
axoneme [GO:0005930]; mitochondrion [GO:0005739]; motile cilium [GO:0031514]; cilium movement [GO:0003341]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=7;  Comment=Additional isoforms (AAT-1L and AAT-1S) may exist.; Name=7; Synonyms=AAT1-alpha; IsoId=Q7Z4T9-7; Sequence=Displayed; Name=1; Synonyms=AAT-1M; IsoId=Q7Z4T9-1; Sequence=VSP_059500; Name=2; IsoId=Q7Z4T9-2; Sequence=VSP_014910, VSP_014911; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z4T9-3; Sequence=VSP_014907; Name=6; IsoId=Q7Z4T9-6; Sequence=VSP_039503; Name=8; IsoId=Q7Z4T9-8; Sequence=VSP_039504; Name=5; Synonyms=AAT1-beta, AAT1-gamma; IsoId=Q7Z4T9-5; Sequence=VSP_059499; Note=May be produced by alternative promoter usage.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12223483}. Cytoplasm {ECO:0000269|PubMed:12223483}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A8IH47}. Note=Localized in the neck of the sperm. {ECO:0000269|PubMed:12223483}.


uniprotID: Q9P2B7
geneSymbol: CFAP97
name: Cilia- and flagella-associated protein 97
length: 532
go: ENSG00000164323;
snps: rs1133657 rs6820332
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2B7-1; Sequence=Displayed; Name=2; IsoId=Q9P2B7-2; Sequence=VSP_029098, VSP_029099; Note=No experimental confirmation available.; 


uniprotID: Q96BS2
geneSymbol: TESC
name: Calcineurin B homologous protein 3 (Tescalcin) (TSC)
length: 214
go: ENSG00000088992;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; ruffle membrane [GO:0032587]; calcium ion binding [GO:0005509]; magnesium ion binding [GO:0000287]; phosphatase inhibitor activity [GO:0019212]; protein homodimerization activity [GO:0042803]; protein kinase inhibitor activity [GO:0004860]; cell differentiation [GO:0030154]; cellular response to retinoic acid [GO:0071300]; negative regulation of cell proliferation [GO:0008285]; positive regulation of gene expression [GO:0010628]; positive regulation of granulocyte differentiation [GO:0030854]; positive regulation of megakaryocyte differentiation [GO:0045654]; positive regulation of sodium:proton antiporter activity [GO:0032417]; positive regulation of transcription, DNA-templated [GO:0045893]; protein localization to plasma membrane [GO:0072659]; protein maturation [GO:0051604]; protein stabilization [GO:0050821]; protein transport [GO:0015031]; regulation of cell adhesion mediated by integrin [GO:0033628]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96BS2-1; Sequence=Displayed; Name=2; IsoId=Q96BS2-2; Sequence=VSP_035518, VSP_035519; Name=3; IsoId=Q96BS2-3; Sequence=VSP_045287; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18321853}. Cytoplasm {ECO:0000269|PubMed:18321853}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:18321853}. Cell projection, lamellipodium {ECO:0000269|PubMed:11696366}. Cell projection, ruffle membrane {ECO:0000250|UniProtKB:Q9JKL5}. Note=Colocalizes with SLC9A1 at the plasma membrane. {ECO:0000269|PubMed:18321853}.


uniprotID: Q9P2E5
geneSymbol: CHPF2
reactome: R-HSA-2022870;
length: 772
go: ENSG00000033100;
name:
Chondroitin sulfate glucuronyltransferase (EC 2.4.1.226) (CSGlcA-T) (Chondroitin glucuronyltransferase) (Chondroitin polymerizing factor 2) (ChPF-2) (Chondroitin synthase 3) (ChSy-3) (N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; acetylgalactosaminyltransferase activity [GO:0008376]; N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity [GO:0050510]; chondroitin sulfate biosynthetic process [GO:0030206]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2E5-1; Sequence=Displayed; Name=2; IsoId=Q9P2E5-2; Sequence=VSP_012724, VSP_012725; Note=No experimental confirmation available.; 


uniprotID: Q8WUD6
geneSymbol: CHPT1
reactome: R-HSA-1483191;
length: 406
go: ENSG00000111666;
snps: rs3205421
name:
Cholinephosphotransferase 1 (hCPT1) (EC 2.7.8.2) (AAPT1-like protein) (Diacylglycerol cholinephosphotransferase 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; diacylglycerol binding [GO:0019992]; diacylglycerol cholinephosphotransferase activity [GO:0004142]; metal ion binding [GO:0046872]; phosphotransferase activity, for other substituted phosphate groups [GO:0016780]; CDP-choline pathway [GO:0006657]; lipid metabolic process [GO:0006629]; phosphatidylcholine biosynthetic process [GO:0006656]; platelet activating factor biosynthetic process [GO:0006663]; regulation of cell growth [GO:0001558]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha; IsoId=Q8WUD6-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q8WUD6-2; Sequence=VSP_025989, VSP_025990; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:12221122}; Multi-pass membrane protein {ECO:0000269|PubMed:12221122}.


uniprotID: Q9NRG0
geneSymbol: CHRAC1
length: 131
go: ENSG00000104472;
snps: rs2231522 rs2231524
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Chromatin accessibility complex protein 1 (CHRAC-1) (Chromatin accessibility complex 15 kDa protein) (CHRAC-15) (HuCHRAC15) (DNA polymerase epsilon subunit p15)

sequence:
MADVVVGKDKGGEQRLISLPLSRIRVIMKSSPEVSSINQEALVLTAKATELFVQCLATYSYRHGSGKEKKVLTYSDLANTAQQSETFQFLADILPKKILASKYLKMLKEEKREEDEENDNDNESDHDEADS

opentargets:
CHRAC [GO:0008623]; epsilon DNA polymerase complex [GO:0008622]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; protein heterodimerization activity [GO:0046982]; chromatin remodeling [GO:0006338]; nucleosome mobilization [GO:0042766]


uniprotID: Q9H503
geneSymbol: BANF2
name: Barrier-to-autointegration factor-like protein (BAF-L) (Barrier-to-autointegration factor 2)
sequence: MDNMSPRLRAFLSEPIGEKDVCWVDGISHELAINLVTKGINKAYILLGQFLLMHKNEAEFQRWLICCFGATECEAQQTSHCLKEWCACFL
length: 90
go: ENSG00000125888;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]
snps: rs4814640 rs1053993
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H503-1; Sequence=Displayed; Name=2; IsoId=Q9H503-2; Sequence=VSP_046080; Note=No experimental confirmation available.; 


uniprotID: O95817
geneSymbol: BAG3
reactome: R-HSA-3371453;
length: 575
go: ENSG00000151929;
name:
BAG family molecular chaperone regulator 3 (BAG-3) (Bcl-2-associated athanogene 3) (Bcl-2-binding protein Bis) (Docking protein CAIR-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; neuron projection [GO:0043005]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; Z disc [GO:0030018]; adenyl-nucleotide exchange factor activity [GO:0000774]; cadherin binding [GO:0045296]; chaperone binding [GO:0051087]; protein-containing complex binding [GO:0044877]; brain development [GO:0007420]; cellular response to heat [GO:0034605]; cellular response to mechanical stimulus [GO:0071260]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; negative regulation of apoptotic process [GO:0043066]; negative regulation of protein targeting to mitochondrion [GO:1903215]; negative regulation of striated muscle cell apoptotic process [GO:0010664]; negative regulation of transcription from RNA polymerase II promoter in response to stress [GO:0097201]; positive regulation of protein export from nucleus [GO:0046827]; positive regulation of protein import into nucleus [GO:0042307]; protein folding [GO:0006457]; protein stabilization [GO:0050821]; regulation of cellular response to heat [GO:1900034]; spinal cord development [GO:0021510]

snps:
rs35434411 rs387906874 rs141355480 rs145393807 rs774241343 rs2234962 rs61756328 rs121918312 rs397514506 rs117671123 rs78439745 rs144692954 rs11199064 rs3858340 rs397516881 rs397514507 rs387906876 rs763530097 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26159920}. Cytoplasm {ECO:0000269|PubMed:26159920}. Note=Colocalizes with HSF1 to the nucleus upon heat stress (PubMed:26159920). {ECO:0000269|PubMed:26159920}.


uniprotID: Q9Y5Z0
geneSymbol: BACE2
pdb: 2EWY;3ZKG;3ZKI;3ZKM;3ZKN;3ZKQ;3ZKS;3ZKX;3ZL7;3ZLQ;4BEL;4BFB;
length: 518
go: ENSG00000182240;
name:
Beta-secretase 2 (EC 3.4.23.45) (Aspartic-like protease 56 kDa) (Aspartyl protease 1) (ASP1) (Asp 1) (Beta-site amyloid precursor protein cleaving enzyme 2) (Beta-site APP cleaving enzyme 2) (Down region aspartic protease) (DRAP) (Memapsin-1) (Membrane-associated aspartic protease 1) (Theta-secretase)

sequence:

opentargets:
cell surface [GO:0009986]; dense core granule [GO:0031045]; endoplasmic reticulum [GO:0005783]; endosome [GO:0005768]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; amyloid-beta binding [GO:0001540]; aspartic-type endopeptidase activity [GO:0004190]; amyloid-beta metabolic process [GO:0050435]; astrocyte activation [GO:0048143]; membrane protein ectodomain proteolysis [GO:0006509]; negative regulation of amyloid precursor protein biosynthetic process [GO:0042985]; peptide hormone processing [GO:0016486]; protein catabolic process [GO:0030163]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Isoform A; IsoId=Q9Y5Z0-1; Sequence=Displayed; Name=2; Synonyms=Isoform C; IsoId=Q9Y5Z0-2; Sequence=VSP_038025; Name=3; Synonyms=Isoform B; IsoId=Q9Y5Z0-3; Sequence=VSP_038026, VSP_038027; Name=4; IsoId=Q9Y5Z0-4; Sequence=VSP_038024; Name=5; IsoId=Q9Y5Z0-5; Sequence=VSP_038023; 

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Golgi apparatus. Endoplasmic reticulum. Endosome. Cell surface.


uniprotID: Q9UL15
geneSymbol: BAG5
reactome: R-HSA-3371453;
pdb: 2D9D;3A8Y;
name: BAG family molecular chaperone regulator 5 (BAG-5) (Bcl-2-associated athanogene 5)
length: 447
go: ENSG00000166170;
snps: rs17854644
sequence:

opentargets:
cytosol [GO:0005829]; inclusion body [GO:0016234]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; adenyl-nucleotide exchange factor activity [GO:0000774]; chaperone binding [GO:0051087]; protein kinase binding [GO:0019901]; ubiquitin protein ligase binding [GO:0031625]; Golgi organization [GO:0007030]; negative regulation of neuron projection development [GO:0010977]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of protein refolding [GO:0061084]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of ubiquitin-protein transferase activity [GO:0051444]; neuron death [GO:0070997]; protein folding [GO:0006457]; protein stabilization [GO:0050821]; regulation of cellular response to heat [GO:1900034]; regulation of inclusion body assembly [GO:0090083]; regulation of ubiquitin-protein transferase activity [GO:0051438]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UL15-1; Sequence=Displayed; Name=2; IsoId=Q9UL15-2; Sequence=VSP_037996; Note=No experimental confirmation available.; 


uniprotID: P46379
geneSymbol: BAG6
pdb: 1WX9;2N9P;4DWF;4EEW;4WWR;4X86;6AU8;
length: 1132
go: ENSG00000204463;
snps: rs1052486 rs11548856
name:
Large proline-rich protein BAG6 (BAG family molecular chaperone regulator 6) (BCL2-associated athanogene 6) (BAG-6) (HLA-B-associated transcript 3) (Protein G3) (Protein Scythe)

sequence:

opentargets:
BAT3 complex [GO:0071818]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Hsp70 protein binding [GO:0030544]; identical protein binding [GO:0042802]; misfolded protein binding [GO:0051787]; polyubiquitin modification-dependent protein binding [GO:0031593]; proteasome binding [GO:0070628]; ribosome binding [GO:0043022]; signaling receptor binding [GO:0005102]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-specific protease binding [GO:1990381]; apoptotic process [GO:0006915]; brain development [GO:0007420]; cell differentiation [GO:0030154]; chromatin organization [GO:0006325]; endoplasmic reticulum stress-induced pre-emptive quality control [GO:0061857]; ER-associated misfolded protein catabolic process [GO:0071712]; immune response-activating cell surface receptor signaling pathway [GO:0002429]; internal peptidyl-lysine acetylation [GO:0018393]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; kidney development [GO:0001822]; lung development [GO:0030324]; maintenance of unfolded protein involved in ERAD pathway [GO:1904378]; natural killer cell activation [GO:0030101]; negative regulation of apoptotic process [GO:0043066]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of proteolysis [GO:0045861]; positive regulation of ERAD pathway [GO:1904294]; proteasomal protein catabolic process [GO:0010498]; protein localization to cytosolic proteasome complex involved in ERAD pathway [GO:1904379]; protein stabilization [GO:0050821]; regulation of cell proliferation [GO:0042127]; regulation of embryonic development [GO:0045995]; spermatogenesis [GO:0007283]; synaptonemal complex assembly [GO:0007130]; tail-anchored membrane protein insertion into ER membrane [GO:0071816]; ubiquitin-dependent ERAD pathway [GO:0030433]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P46379-1; Sequence=Displayed; Name=2; IsoId=P46379-2; Sequence=VSP_015695; Name=3; IsoId=P46379-3; Sequence=VSP_015695, VSP_030519; Note=No experimental confirmation available.; Name=4; IsoId=P46379-4; Sequence=VSP_015695, VSP_045910, VSP_045911, VSP_045912, VSP_045913; Note=No experimental confirmation available. {ECO:0000244|PubMed:18669648}; Name=5; IsoId=P46379-5; Sequence=VSP_015695, VSP_045913; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:17403783, ECO:0000269|PubMed:20676083, ECO:0000269|PubMed:21636303, ECO:0000269|PubMed:29042515}. Nucleus {ECO:0000269|PubMed:14960581, ECO:0000269|PubMed:17403783, ECO:0000269|PubMed:21636303, ECO:0000269|PubMed:29042515}. Secreted, exosome {ECO:0000269|PubMed:18055229, ECO:0000269|PubMed:18852879}. Note=Normally localized in cytosol and nucleus, it can also be released extracellularly, in exosomes, by tumor and myeloid dendritic cells (PubMed:18055229, PubMed:18852879). Cytoplasmic retention is due to interaction with GET4 (PubMed:29042515). {ECO:0000269|PubMed:18055229, ECO:0000269|PubMed:18852879, ECO:0000269|PubMed:29042515}.


uniprotID: Q5SQS8
geneSymbol: C10orf120
name: Uncharacterized protein C10orf120
length: 335
go: ENSG00000183559;
snps: rs41448048 rs2947594
sequence:


uniprotID: Q8N4M7
geneSymbol: C10orf126
name: Putative uncharacterized protein C10orf126
length: 172
sequence:
MNHCIQFSPQSLQRWLILPCYDLKLPIWANTTEFCPHGPRRASQDPQLLAWLPDQSLEVSLELYDWNSMTFTLFLETVEPVAVESEGSGIFSFVWQQLIFPAEARWCFSWAQDCGLDGSFPGSAHTEPFGKAAAGQGSVAGKEAKKAGPGFHRQLLYLQFQKRCLFNYPELL


uniprotID: B7Z368
geneSymbol: C10orf142
name: Uncharacterized protein C10orf142
length: 130
go: ENSG00000277288;
sequence:
MRMYSSDAHERPPSPSLGTTPPHPLPPTGSPRPRQDSAAGNSEEREPRGLRRASGVGSSCKRPTVCMGRQQGLPFCTVCGYRCSSPERTRGRCAVGKVRVAGGGGAPGGGAGMRCCGCRERNINKELELF


uniprotID: A0A1B0GUT2
geneSymbol: C10orf143
name: Uncharacterized protein C10orf143
length: 108
go: ENSG00000237489;
sequence:
MDSLALGRWRQRRAEDLQVPGDVKRVCRRLEASGHERGCHQVNACALASWGPEDRELPSRGCLPAPRPESGQGRLSTGISQNGGRSSAQPCPRCIAGESGHFSHTKNH


uniprotID: Q9NQ32
geneSymbol: C11orf16
name: Uncharacterized protein C11orf16
length: 467
go: ENSG00000176029;
snps: rs2568076 rs11042127
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQ32-1; Sequence=Displayed; Name=2; IsoId=Q9NQ32-2; Sequence=VSP_039850; 


uniprotID: Q9P2W6
geneSymbol: C11orf21
name: Uncharacterized protein C11orf21
length: 132
go: ENSG00000110665;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:
MGRTWCGMWRRRRPGRRSAVPRWPHLSSQSGVEPPDRWTGTPGWPSRDQEAPGSMMPPAAAQPSAHGALVPPATAHEPVDHPALHWLACCCCLSLPGQLPLAIRLGWDLDLEAGPSSGKLCPRARRWQPLPS


uniprotID: Q8TAV5
geneSymbol: C11orf45
name: Putative uncharacterized protein C11orf45
length: 145
go: ENSG00000174370;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MLTRLVLSAHLSSTTSPPWTHAAISWELDNVLMPSPRIWPQVTPTGRSASVRSEGNTSSLWNFSAGQDVHAIVTRTCESVLSSAVYTHGCGCVRSATNITCQSSGQQRQAARQEEENSICKAHDSREGRLGYPLSAHQPGSGGPN


uniprotID: Q9H6J7
geneSymbol: C11orf49
name: UPF0705 protein C11orf49
length: 331
go: ENSG00000149179;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H6J7-1; Sequence=Displayed; Name=2; IsoId=Q9H6J7-2; Sequence=VSP_024000; Name=3; IsoId=Q9H6J7-3; Sequence=VSP_024001; Name=4; IsoId=Q9H6J7-4; Sequence=VSP_044902; Note=No experimental confirmation available.; 


uniprotID: Q8IXP5
geneSymbol: C11orf53
name: Uncharacterized protein C11orf53
length: 236
go: ENSG00000150750;
sequence:


uniprotID: Q9H3H3
geneSymbol: C11orf68
pdb: 1ZTP;2Q4K;
name: UPF0696 protein C11orf68 (Basophilic leukemia-expressed protein Bles03) (Protein p5326)
length: 251
go: ENSG00000175573;
opentargets: RNA binding [GO:0003723]
snps: rs7947504
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H3H3-1; Sequence=Displayed; Name=2; IsoId=Q9H3H3-2; Sequence=VSP_040741; Name=3; IsoId=Q9H3H3-3; Sequence=VSP_040890; 


uniprotID: Q8NBR9
geneSymbol: C11orf72
name: Uncharacterized protein C11orf72
length: 251
snps: rs12421329
sequence:


uniprotID: Q86VG3
geneSymbol: C11orf74
name: Uncharacterized protein C11orf74 (Protein HEPIS)
length: 221
go: ENSG00000166352;
opentargets: cilium [GO:0005929]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86VG3-1; Sequence=Displayed; Name=2; IsoId=Q86VG3-2; Sequence=VSP_025793; 


uniprotID: Q3C1V1
geneSymbol: C11orf91
name: Uncharacterized protein C11orf91
length: 193
go: ENSG00000205177;
sequence:
MPKGRRGSHSPTMSQRSAPPLYFPSLYDRGISSSPLSDFNIWKKLFVPLKAGGAPVGGAAGARSLSQALPAPAPPPPPPPGLGPSSERPWPSPWPSGLASIPYEPLRFFYSPPPGPEVVASPLVPCPSTPRLASASHPEELCELEIRIKELELLTITGDGFDSQSYTFLKALKDEKLQGLKTKQPGKKSASLS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3C1V1-1; Sequence=Displayed; Name=2; IsoId=Q3C1V1-2; Sequence=VSP_034218; 


uniprotID: C9JLR9
geneSymbol: C11orf95
name: Uncharacterized protein C11orf95
length: 678
go: ENSG00000188070;
opentargets: nucleic acid binding [GO:0003676]; negative regulation of transcription, DNA-templated [GO:0045892]
sequence:


uniprotID: A0A1B0GVM6
geneSymbol: C11orf97
name: Uncharacterized protein C11orf97
length: 126
go: ENSG00000257057;
opentargets: ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q9DAE7}.
sequence:
MTGEEAVVVTAVVAPKAGREEEQPPPPAGLGCGARGEPGRGPLEHGQQWKKFLYCEPHKRIKEVLEEERHIKRDECHIKNPAAVALEGIWSIKRNLPVGGLKPGLPSRNSLLPQAKYYSRHGGLRR


uniprotID: Q96S95
geneSymbol: CAMK2N2
name: Calcium/calmodulin-dependent protein kinase II inhibitor 2 (CaM-KII inhibitory protein) (CaM-KIIN)
sequence: MSEILPYSEDKMGRFGADPEGSDLSFSCRLQDTNSFFAGNQAKRPPKLGQIGRAKRVVIEDDRIDDVLKGMGEKPPSGV
length: 79
go: ENSG00000163888;
opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; nucleus [GO:0005634]; calcium-dependent protein kinase inhibitor activity [GO:0008427]; protein kinase binding [GO:0019901]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytosol. Note=Excluded from nucleus when coexpressed with activated CAMK2. {ECO:0000250}.


uniprotID: Q96SZ6
geneSymbol: CDK5RAP1
name: CDK5 regulatory subunit-associated protein 1 (CDK5 activator-binding protein C42)
length: 601
go: ENSG00000101391;
sequence:

opentargets:
mitochondrion [GO:0005739]; 4 iron, 4 sulfur cluster binding [GO:0051539]; metal ion binding [GO:0046872]; N6-isopentenyladenosine methylthiotransferase activity [GO:0035597]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; brain development [GO:0007420]; mitochondrial tRNA modification [GO:0070900]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; positive regulation of mitochondrial translation [GO:0070131]; positive regulation of translational fidelity [GO:0045903]; regulation of neuron differentiation [GO:0045664]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q96SZ6-1; Sequence=Displayed; Note=May be due to intron retention. No experimental confirmation available.; Name=2; IsoId=Q96SZ6-2; Sequence=VSP_007560, VSP_007562; Note=No experimental confirmation available.; Name=3; Synonyms=a; IsoId=Q96SZ6-3; Sequence=VSP_007562; Name=4; IsoId=Q96SZ6-4; Sequence=VSP_007561; Note=No experimental confirmation available.; Name=5; Synonyms=CDK5RAP1_v4; IsoId=Q96SZ6-5; Sequence=VSP_047799, VSP_047800, VSP_047801; Note=Mainly expressed in brain, placenta and testis.; Name=6; Synonyms=CDK5RAP1_v3; IsoId=Q96SZ6-6; Sequence=VSP_047799, VSP_047802; Note=High expression in placenta and lung.; 


uniprotID: Q8WWK9
geneSymbol: CKAP2
length: 683
go: ENSG00000136108;
snps: rs35975899 rs7335867
name:
Cytoskeleton-associated protein 2 (CTCL tumor antigen se20-10) (Tumor- and microtubule-associated protein)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; microtubule cytoskeleton [GO:0015630]; spindle pole [GO:0000922]; apoptotic process [GO:0006915]; mitotic cytokinesis [GO:0000281]; negative regulation of microtubule depolymerization [GO:0007026]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1 {ECO:0000269|PubMed:11149944, ECO:0000269|PubMed:12942315, ECO:0000269|PubMed:9771967}; IsoId=Q8WWK9-1; Sequence=Displayed; Name=2; IsoId=Q8WWK9-4; Sequence=VSP_047100, VSP_047101, VSP_047102; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q8WWK9-6; Sequence=VSP_055686; Name=3; IsoId=Q8WWK9-5; Sequence=VSP_047100; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Contrary to the ectopically expressed protein, endogenous CKAP2 does not colocalize with microtubules in G1, S and early G2. At late G2 and prophase after separation of duplicated centrosomes, colocalizes with gamma-tubulin and centrosome-proximal microtubules. From prometaphase through anaphase B, colocalizes with mitotic spindle poles and spindle microtubules. During cytokinesis, absent from midbody microtubules.


uniprotID: Q14008
geneSymbol: CKAP5
pdb: 4QMI;4QMJ;
name: Cytoskeleton-associated protein 5 (Colonic and hepatic tumor overexpressed gene protein) (Ch-TOG)
length: 2032
go: ENSG00000175216;
snps: rs11038988
reactome:
R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5663220;R-HSA-68877;R-HSA-8854518;

sequence:

opentargets:
centrosome [GO:0005813]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinetochore [GO:0000776]; membrane [GO:0016020]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; spindle pole [GO:0000922]; cadherin binding [GO:0045296]; microtubule plus-end binding [GO:0051010]; cell division [GO:0051301]; centrosome cycle [GO:0007098]; centrosome duplication [GO:0051298]; ciliary basal body-plasma membrane docking [GO:0097711]; establishment or maintenance of microtubule cytoskeleton polarity [GO:0030951]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule depolymerization [GO:0007019]; microtubule polymerization [GO:0046785]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; RNA transport [GO:0050658]; spindle organization [GO:0007051]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14008-1; Sequence=Displayed; Name=2; IsoId=Q14008-2; Sequence=VSP_035668; Name=3; IsoId=Q14008-3; Sequence=VSP_036400; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:21646404, ECO:0000269|PubMed:25596274, ECO:0000269|PubMed:9570755}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:21646404}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:21297582, ECO:0000269|PubMed:25596274, ECO:0000269|PubMed:9570755}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:25596274}. Note=Detected on centrosomes and kinetochores during interphase and mitosis independently from TACC3 and clathrin. Located to spindle poles and microtubules during mitosis. In complex with TACC3 localized to microtubule plus-ends in mitosis and interphase. In complex with TACC3 and clathrin localized to inter-microtubule bridges in mitotic spindles. Accumulation sites at microtubule plus ends protruded approximately 100 nm from MAPRE1/EB1 sites in interphase cells. {ECO:0000269|PubMed:21646404, ECO:0000269|PubMed:23251535, ECO:0000269|PubMed:25596274}.


uniprotID: Q8TAZ6
geneSymbol: CMTM2
length: 248
go: ENSG00000140932;
snps: rs2290182
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
CKLF-like MARVEL transmembrane domain-containing protein 2 (Chemokine-like factor superfamily member 2)

sequence:

opentargets:
extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; cytokine activity [GO:0005125]; chemotaxis [GO:0006935]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TAZ6-1; Sequence=Displayed; Name=2; IsoId=Q8TAZ6-2; Sequence=VSP_047061; 


uniprotID: Q96MX0
geneSymbol: CMTM3
length: 182
go: ENSG00000140931;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
CKLF-like MARVEL transmembrane domain-containing protein 3 (Chemokine-like factor superfamily member 3)

sequence:
MWPPDPDPDPDPEPAGGSRPGPAVPGLRALLPARAFLCSLKGRLLLAESGLSFITFICYVASSASAFLTAPLLEFLLALYFLFADAMQLNDKWQGLCWPMMDFLRCVTAALIYFAISITAIAKYSDGASKAAGVFGFFATIVFATDFYLIFNDVAKFLKQGDSADETTAHKTEEENSDSDSD

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; cytokine activity [GO:0005125]; blastocyst hatching [GO:0001835]; chemotaxis [GO:0006935]; positive regulation of B cell receptor signaling pathway [GO:0050861]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MX0-1; Sequence=Displayed; Name=2; IsoId=Q96MX0-2; Sequence=VSP_008256, VSP_008257; 


uniprotID: Q8IZR5
geneSymbol: CMTM4
length: 234
go: ENSG00000183723;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
name:
CKLF-like MARVEL transmembrane domain-containing protein 4 (Chemokine-like factor superfamily member 4)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IZR5-1; Sequence=Displayed; Name=2; IsoId=Q8IZR5-2; Sequence=VSP_008261; Name=3; IsoId=Q8IZR5-3; Sequence=VSP_008260, VSP_008261; 


uniprotID: Q9NX76
geneSymbol: CMTM6
reactome: R-HSA-6798695;
length: 183
go: ENSG00000091317;
snps: rs35574803
name:
CKLF-like MARVEL transmembrane domain-containing protein 6 (Chemokine-like factor superfamily member 6)

sequence:
MENGAVYSPTTEEDPGPARGPRSGLAAYFFMGRLPLLRRVLKGLQLLLSLLAFICEEVVSQCTLCGGLYFFEFVSCSAFLLSLLILIVYCTPFYERVDTTKVKSSDFYITLGTGCVFLLASIIFVSTHDRTSAEIAAIVFGFIASFMFLLDFITMLYEKRQESQLRKPENTTRAEALTEPLNA

opentargets:
azurophil granule membrane [GO:0035577]; early endosome membrane [GO:0031901]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; specific granule membrane [GO:0035579]; endocytic recycling [GO:0032456]; neutrophil degranulation [GO:0043312]; protein transport [GO:0015031]; regulation of protein stability [GO:0031647]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28813410, ECO:0000269|PubMed:28813417}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000269|PubMed:28813417}; Multi-pass membrane protein {ECO:0000255}. Recycling endosome membrane {ECO:0000269|PubMed:28813417}; Multi-pass membrane protein {ECO:0000255}. Note=Co-localizes with PD-L1/CD274 in the plasma membrane and in recycling endosomes. {ECO:0000269|PubMed:28813417}.


uniprotID: Q8IZV2
geneSymbol: CMTM8
length: 173
go: ENSG00000170293;
name:
CKLF-like MARVEL transmembrane domain-containing protein 8 (Chemokine-like factor superfamily member 8)

sequence:
MEEPQRARSHTVTTTASSFAENFSTSSSSFAYDREFLRTLPGFLIVAEIVLGLLVWTLIAGTEYFRVPAFGWVMFVAVFYWVLTVFFLIIYITMTYTRIPQVPWTTVGLCFNGSAFVLYLSAAVVDASSVSPERDSHNFNSWAASSFFAFLVTICYAGNTYFSFIAWRSRTIQ

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; cytokine activity [GO:0005125]; structural constituent of myelin sheath [GO:0019911]; chemotaxis [GO:0006935]; myelination [GO:0042552]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZV2-1; Sequence=Displayed; Name=2; Synonyms=CMTM8-v2; IsoId=Q8IZV2-2; Sequence=VSP_044430; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane; Multi-pass membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus.


uniprotID: Q8IYA6
geneSymbol: CKAP2L
name: Cytoskeleton-associated protein 2-like (Radial fiber and mitotic spindle protein) (Radmis)
length: 745
go: ENSG00000169607;
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; mitotic spindle [GO:0072686]; spindle pole [GO:0000922]

snps:
rs36093393 rs35593767 rs17042344 rs13007595 rs17042341 rs6731822 rs2676126 rs36046436 rs3811040 rs3811039 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IYA6-1; Sequence=Displayed; Name=2; IsoId=Q8IYA6-2; Sequence=VSP_032219, VSP_032220; Note=No experimental confirmation available.; Name=3; IsoId=Q8IYA6-3; Sequence=VSP_053717; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:25439729}. Note=Uniformly distributed along each microtubule bundle of spindles in addition to centrioles during mitosis, expression promptly diminishes at interphase. {ECO:0000269|PubMed:25439729}.


uniprotID: Q9HBH7
geneSymbol: BEX1
name: Protein BEX1 (Brain-expressed X-linked protein 1)
length: 125
go: ENSG00000133169;
snps: rs3174500 rs1045058 rs1045061 rs1045063 rs1045065 rs709036 rs1045082
sequence:
MESKEKRAVNSLSMENANQENEEKEQVANKGEPLALPLDAGEYCVPRGNRRRFRVRQPILQYRWDMMHRLGEPQARMREENMERIGEEVRQLMEKLREKQLSHSLRAVSTDPPHHDHHDEFCLMP

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; RNA polymerase II activating transcription factor binding [GO:0001102]; cell differentiation [GO:0030154]; nervous system development [GO:0007399]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of transcription by RNA polymerase II [GO:0045944]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and the nucleus. {ECO:0000250}.


uniprotID: Q9BXY8
geneSymbol: BEX2
name: Protein BEX2 (Brain-expressed X-linked protein 2) (hBex2)
length: 128
go: ENSG00000133134;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000269|PubMed:16314316}.
sequence:
MESKEERALNNLIVENVNQENDEKDEKEQVANKGEPLALPLNVSEYCVPRGNRRRFRVRQPILQYRWDIMHRLGEPQARMREENMERIGEEVRQLMEKLREKQLSHSLRAVSTDPPHHDHHDEFCLMP

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; regulation of apoptotic process [GO:0042981]; regulation of cell cycle [GO:0051726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXY8-1; Sequence=Displayed; Name=2; IsoId=Q9BXY8-2; Sequence=VSP_046808; Note=Gene prediction based on EST data.; 


uniprotID: Q9NWD9
geneSymbol: BEX4
length: 120
go: ENSG00000102409;
name:
Protein BEX4 (BEX1-like protein 1) (Brain-expressed X-linked protein 4) (Nerve growth factor receptor-associated protein 3)

sequence:
MESKEELAANNLNGENAQQENEGGEQAPTQNEEESRHLGGGEGQKPGGNIRRGRVRRLVPNFRWAIPNRHIEHNEARDDVERFVGQMMEIKRKTREQQMRHYMRFQTPEPDNHYDFCLIP

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; nucleus [GO:0005634]; spindle pole [GO:0000922]; alpha-tubulin binding [GO:0043014]; histone deacetylase binding [GO:0042826]; chromosome segregation [GO:0007059]; negative regulation of tubulin deacetylation [GO:1904428]; regulation of cell migration [GO:0030334]; regulation of cell proliferation [GO:0042127]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:27512957}. Nucleus {ECO:0000269|PubMed:27512957}. Cytoplasm {ECO:0000269|PubMed:27512957}. Note=Also localizes to microtubules. {ECO:0000269|PubMed:27512957}.


uniprotID: Q9NZS9
geneSymbol: BFAR
name: Bifunctional apoptosis regulator (RING finger protein 47)
length: 450
go: ENSG00000103429;
snps: rs11546303 rs35377618
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; caspase binding [GO:0089720]; metal ion binding [GO:0046872]; protein binding, bridging [GO:0030674]; ubiquitin protein ligase activity [GO:0061630]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; negative regulation of IRE1-mediated unfolded protein response [GO:1903895]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein autoubiquitination [GO:0051865]; protein K48-linked ubiquitination [GO:0070936]; protein K63-linked ubiquitination [GO:0070534]; protein polyubiquitination [GO:0000209]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZS9-1; Sequence=Displayed; Name=2; IsoId=Q9NZS9-2; Sequence=VSP_055879, VSP_055880; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10716992, ECO:0000269|PubMed:14502241}; Multi-pass membrane protein {ECO:0000269|PubMed:10716992, ECO:0000269|PubMed:14502241}.


uniprotID: Q9NQ89
geneSymbol: C12orf4
name: Protein C12orf4
length: 552
go: ENSG00000047621;
opentargets: cytoplasm [GO:0005737]; regulation of mast cell degranulation [GO:0043304]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:D4A770}.
sequence:


uniprotID: Q8N999
geneSymbol: C12orf29
name: Uncharacterized protein C12orf29
length: 325
go: ENSG00000133641;
opentargets: hematopoietic progenitor cell differentiation [GO:0002244]
snps: rs11541954 rs9262
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N999-1; Sequence=Displayed; Name=2; IsoId=Q8N999-2; Sequence=VSP_028317, VSP_028318; Name=3; IsoId=Q8N999-3; Sequence=VSP_028316, VSP_028319; 


uniprotID: Q96LM1
geneSymbol: LINC00615
name: Putative uncharacterized protein encoded by LINC00615
length: 132
sequence:
MKQKQEVMFQSRGRLSLYIQMSSVYSAKLGPVGGICGQKQKPSFFFFKAQSQDARPLAPAACISKIAKAGRELPGRHLPGQKTPTLAGRHVPLKIEKEAIVYYVAVMSDWDTSCLQRTIKPLSCPHLGLTPS


uniprotID: Q86WS4
geneSymbol: C12orf40
name: Uncharacterized protein C12orf40
length: 652
go: ENSG00000180116;
snps: rs58302581
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86WS4-1; Sequence=Displayed; Name=2; IsoId=Q86WS4-2; Sequence=VSP_035084, VSP_035085; Note=No experimental confirmation available.; Name=3; Synonyms=HEL-206; IsoId=Q86WS4-3; Sequence=VSP_035082, VSP_035083, VSP_035086; 


uniprotID: Q8N5I9
geneSymbol: C12orf45
name: Uncharacterized protein C12orf45
length: 185
go: ENSG00000151131;
snps: rs12580271 rs1129593
sequence:
MEVHGKPKASPSCSSPTRDSSGVPVSKELLTAGSDGRGGIWDRLLINSQPKSRKTSTLQTVRIERSPLLDQVQTFLPQMARANEKLRKEMAAAPPGRFNIENIDGPHSKVIQMDVALFEMNQSDSKEVDSSEESSQDSSENSSESEDEDDSIPSEVTIDNIKLPNSEGGKGKIEVLDSPASKKKK


uniprotID: Q8NA57
geneSymbol: C12orf50
name: Uncharacterized protein C12orf50
length: 414
go: ENSG00000165805;
snps: rs10777084 rs11104703
sequence:

opentargets:
intracellular [GO:0005622]; mRNA binding [GO:0003729]; poly(A)+ mRNA export from nucleus [GO:0016973]


uniprotID: Q6X4T0
geneSymbol: C12orf54
name: Uncharacterized protein C12orf54
length: 127
go: ENSG00000177627;
snps: rs11458
sequence:
MAQHPCQDQEQKVEMTSKQQRSTSIEETMRPQEKQVTITETLWDQVLTVFKDIQKELQEDARIRGMSNCSMTPMTSAPRTGSIRPPDSLMTPKLRRLQFSSGEQPSGGRIHNLKTQLFSQSAYYPGP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6X4T0-1; Sequence=Displayed; Name=2; IsoId=Q6X4T0-2; Sequence=VSP_022708, VSP_022709; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q8IXR9
geneSymbol: C12orf56
name: Uncharacterized protein C12orf56
length: 622
go: ENSG00000185306;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IXR9-1; Sequence=Displayed; Name=2; IsoId=Q8IXR9-2; Sequence=VSP_031745; Note=No experimental confirmation available.; 


uniprotID: Q5U649
geneSymbol: C12orf60
name: Uncharacterized protein C12orf60
length: 245
go: ENSG00000182993;
snps: rs17853860 rs7304054 rs7307438
sequence:


uniprotID: Q12934
geneSymbol: BFSP1
length: 665
go: ENSG00000125864;
snps: rs6080719 rs16999317
name:
Filensin (Beaded filament structural protein 1) (Lens fiber cell beaded-filament structural protein CP 115) (CP115) (Lens intermediate filament-like heavy) (LIFL-H)

sequence:

opentargets:
cell cortex [GO:0005938]; intermediate filament [GO:0005882]; plasma membrane [GO:0005886]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of eye lens [GO:0005212]; cell maturation [GO:0048469]; lens fiber cell development [GO:0070307]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q12934-1; Sequence=Displayed; Name=2; IsoId=Q12934-2; Sequence=VSP_024921, VSP_024922; Note=No experimental confirmation available.; Name=3; IsoId=Q12934-3; Sequence=VSP_055064; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q06002}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q06002}; Cytoplasmic side {ECO:0000250|UniProtKB:Q06002}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q06002}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q06002}. Note=Detected adjacent to the cell membrane. {ECO:0000250|UniProtKB:Q06002}.


uniprotID: A8MTZ7
geneSymbol: C12orf71
name: Uncharacterized protein C12orf71
length: 269
snps: rs708167
sequence:


uniprotID: Q32Q52
geneSymbol: C12orf74
name: Uncharacterized protein C12orf74
length: 190
go: ENSG00000214215;
sequence:
MEKTESFCPEVPPQDCGASPRPSLRSLPKNQGSLLQFDRQAPGRISTSPTLRRLRTRGCGTRQDAWQVTTWGSWGAPVGFPCYLSKSLPGSPKDSSHLLSPLRLHSRLTSEPERALNAADSLEPQTRPTDKYLPPELQPVNEGSLHQASLRQQEGHFLPSPTLRHPSPQGEELHPSRCVCIYFLRCYDIC

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q32Q52-1; Sequence=Displayed; Name=2; IsoId=Q32Q52-2; Sequence=VSP_045285; Note=No experimental confirmation available.; 


uniprotID: G3V211
geneSymbol: LINC01619
name: Uncharacterized protein encoded by LINC01619
length: 115
sequence:
MNVCCSSHPVNEKVWKPSSRKWSSKVWSMDEFDLQTACYWFMTRCQKEAGKFGTHRGKPMCFVRSLLRVQLLPRTFPANSFVISFFPSLIYPLQVYQLHFESSDKQRAMQFVTEG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=G3V211-1; Sequence=Displayed; Name=2; IsoId=G3V211-2; Sequence=VSP_047835; Name=3; IsoId=G3V211-3; Sequence=VSP_047836; 


uniprotID: Q5QGZ9
geneSymbol: CLEC12A
reactome: R-HSA-6798695;
length: 265
go: ENSG00000172322;
snps: rs479499
name:
C-type lectin domain family 12 member A (C-type lectin-like molecule 1) (CLL-1) (Dendritic cell-associated lectin 2) (DCAL-2) (Myeloid inhibitory C-type lectin-like receptor) (MICL) (CD antigen CD371)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; carbohydrate binding [GO:0030246]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; Synonyms=Alpha; IsoId=Q5QGZ9-2; Sequence=Displayed; Name=1; IsoId=Q5QGZ9-1; Sequence=VSP_039854; Name=3; Synonyms=Gamma; IsoId=Q5QGZ9-3; Sequence=VSP_030031, VSP_030032; 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; Synonyms=Beta; IsoId=Q5QGZ9-4; Sequence=VSP_030030; Name=5; IsoId=Q5QGZ9-5; Sequence=VSP_030033; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14739280, ECO:0000269|PubMed:15548716, ECO:0000269|PubMed:16239426, ECO:0000269|PubMed:16838277}; Single-pass type II membrane protein {ECO:0000269|PubMed:14739280, ECO:0000269|PubMed:15548716, ECO:0000269|PubMed:16239426, ECO:0000269|PubMed:16838277}. Note=Ligand binding leads to internalization.


uniprotID: Q2HXU8
geneSymbol: CLEC12B
name: C-type lectin domain family 12 member B (Macrophage antigen H)
length: 276
go: ENSG00000256660;
snps: rs1359082 rs637790
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; protein-containing complex [GO:0032991]; carbohydrate binding [GO:0030246]; protein phosphatase binding [GO:0019903]; receptor inhibitor activity [GO:0030547]; natural killer cell inhibitory signaling pathway [GO:0002769]; negative regulation of natural killer cell mediated cytotoxicity [GO:0045953]; negative regulation of signaling receptor activity [GO:2000272]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2HXU8-1; Sequence=Displayed; Name=2; IsoId=Q2HXU8-2; Sequence=VSP_030034, VSP_030035; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17562706}; Single-pass type II membrane protein {ECO:0000269|PubMed:17562706}.


uniprotID: Q6ZS10
geneSymbol: CLEC17A
name: C-type lectin domain family 17, member A (Prolectin)
length: 378
go: ENSG00000187912;
sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; fucose binding [GO:0042806]; mannose binding [GO:0005537]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZS10-1; Sequence=Displayed; Name=2; IsoId=Q6ZS10-2; Sequence=VSP_039405, VSP_039406; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q6ZS10-3; Sequence=VSP_039407, VSP_039408; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Note=In fibroblasts, expressed on the cell surface. {ECO:0000269|PubMed:19419970}.


uniprotID: Q6UXF7
geneSymbol: CLEC18B
name: C-type lectin domain family 18 member B (Mannose receptor-like protein 1)
length: 455
go: ENSG00000140839;
sequence:

opentargets:
endosome [GO:0005768]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; sarcoplasmic reticulum [GO:0016529]; polysaccharide binding [GO:0030247]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UXF7-1; Sequence=Displayed; Name=2; IsoId=Q6UXF7-2; Sequence=VSP_037307, VSP_037308, VSP_037309; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:A5D8T8}. Endoplasmic reticulum {ECO:0000305|PubMed:26170455}. Golgi apparatus {ECO:0000305|PubMed:26170455}. Endosome {ECO:0000305|PubMed:26170455}.


uniprotID: Q6UXS0
geneSymbol: CLEC19A
name: C-type lectin domain family 19 member A
length: 136
go: ENSG00000261210;
opentargets: extracellular region [GO:0005576]; carbohydrate binding [GO:0030246]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MQRWTLWAAAFLTLHSAQAFPQTDISISPALPELPLPSLCPLFWMEFKGHCYRFFPLNKTWAEADLYCSEFSVGRKSAKLASIHSWEENVFVYDLVNSCVPGIPADVWTGLHDHRQVRKQWPLGPLGSSSQDSILI


uniprotID: Q6ZU45
geneSymbol: CLEC20A
name: Putative C-type lectin domain family 20 member A
length: 400
go: ENSG00000188585;
opentargets: carbohydrate binding [GO:0030246]
sequence:


uniprotID: Q7Z460
geneSymbol: CLASP1
pdb: 4K92;
length: 1538
go: ENSG00000074054;
snps: rs17761055
reactome:
R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-428890;R-HSA-5620912;R-HSA-5663220;R-HSA-68877;R-HSA-8854518;

name:
CLIP-associating protein 1 (Cytoplasmic linker-associated protein 1) (Multiple asters homolog 1) (Protein Orbit homolog 1) (hOrbit1)

sequence:

opentargets:
basal cortex [GO:0045180]; cell cortex [GO:0005938]; centrosomal corona [GO:0031592]; centrosome [GO:0005813]; condensed chromosome kinetochore [GO:0000777]; cortical microtubule cytoskeleton [GO:0030981]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; kinetochore [GO:0000776]; kinetochore microtubule [GO:0005828]; membrane [GO:0016020]; microtubule plus-end [GO:0035371]; spindle microtubule [GO:0005876]; dystroglycan binding [GO:0002162]; kinetochore binding [GO:0043515]; microtubule binding [GO:0008017]; microtubule plus-end binding [GO:0051010]; astral microtubule organization [GO:0030953]; cell division [GO:0051301]; ciliary basal body-plasma membrane docking [GO:0097711]; establishment of epithelial cell polarity [GO:0090162]; establishment of mitotic spindle localization [GO:0040001]; establishment of spindle orientation [GO:0051294]; establishment or maintenance of cell polarity [GO:0007163]; exit from mitosis [GO:0010458]; G2/M transition of mitotic cell cycle [GO:0000086]; Golgi organization [GO:0007030]; microtubule anchoring [GO:0034453]; microtubule bundle formation [GO:0001578]; microtubule cytoskeleton organization [GO:0000226]; microtubule nucleation [GO:0007020]; microtubule organizing center organization [GO:0031023]; mitotic spindle assembly [GO:0090307]; mitotic spindle organization [GO:0007052]; negative regulation of microtubule depolymerization [GO:0007026]; negative regulation of microtubule polymerization or depolymerization [GO:0031111]; negative regulation of stress fiber assembly [GO:0051497]; negative regulation of wound healing, spreading of epidermal cells [GO:1903690]; positive regulation of basement membrane assembly involved in embryonic body morphogenesis [GO:1904261]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of exocytosis [GO:0045921]; positive regulation of extracellular matrix disassembly [GO:0090091]; positive regulation of microtubule polymerization [GO:0031116]; regulation of epithelial to mesenchymal transition [GO:0010717]; regulation of focal adhesion assembly [GO:0051893]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of gastrulation [GO:0010470]; regulation of microtubule cytoskeleton organization [GO:0070507]; vesicle targeting [GO:0006903]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q7Z460-1; Sequence=Displayed; Name=2; IsoId=Q7Z460-2; Sequence=VSP_022386, VSP_022387, VSP_022389; Name=3; IsoId=Q7Z460-3; Sequence=VSP_022386, VSP_022387, VSP_022388, VSP_022389; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z460-4; Sequence=VSP_054412, VSP_054413, VSP_022386, VSP_054414, VSP_022389; Note=No experimental confirmation available.; Name=5; IsoId=Q7Z460-5; Sequence=VSP_057272, VSP_022386, VSP_022387, VSP_022389; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Golgi apparatus, trans-Golgi network {ECO:0000305}. Note=Localizes to microtubule plus ends. Localizes to centrosomes, kinetochores and the mitotic spindle from prometaphase. Subsequently localizes to the spindle midzone from anaphase and to the midbody from telophase. In migrating cells localizes to the plus ends of microtubules within the cell body and to the entire microtubule lattice within the lamella. Localizes to the cell cortex and this requires ERC1 and PHLDB2.


uniprotID: O75122
geneSymbol: CLASP2
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-428890;R-HSA-5663220;R-HSA-68877;
pdb: 3WOY;5NR4;
length: 1294
go: ENSG00000163539;
name:
CLIP-associating protein 2 (Cytoplasmic linker-associated protein 2) (Protein Orbit homolog 2) (hOrbit2)

sequence:

opentargets:
axonal growth cone [GO:0044295]; basal cortex [GO:0045180]; cell cortex [GO:0005938]; cell leading edge [GO:0031252]; condensed chromosome kinetochore [GO:0000777]; cortical microtubule plus-end [GO:1903754]; cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; kinetochore microtubule [GO:0005828]; membrane [GO:0016020]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; trans-Golgi network [GO:0005802]; actin filament binding [GO:0051015]; dystroglycan binding [GO:0002162]; microtubule binding [GO:0008017]; microtubule plus-end binding [GO:0051010]; protein tyrosine kinase binding [GO:1990782]; cell division [GO:0051301]; establishment or maintenance of cell polarity [GO:0007163]; exit from mitosis [GO:0010458]; Golgi organization [GO:0007030]; microtubule anchoring [GO:0034453]; microtubule cytoskeleton organization [GO:0000226]; microtubule nucleation [GO:0007020]; microtubule organizing center organization [GO:0031023]; mitotic spindle organization [GO:0007052]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of microtubule depolymerization [GO:0007026]; negative regulation of stress fiber assembly [GO:0051497]; negative regulation of wound healing, spreading of epidermal cells [GO:1903690]; platelet-derived growth factor receptor-beta signaling pathway [GO:0035791]; positive regulation of basement membrane assembly involved in embryonic body morphogenesis [GO:1904261]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of exocytosis [GO:0045921]; positive regulation of extracellular matrix disassembly [GO:0090091]; protein localization to plasma membrane [GO:0072659]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of axon extension [GO:0030516]; regulation of epithelial to mesenchymal transition [GO:0010717]; regulation of gastrulation [GO:0010470]; regulation of microtubule polymerization [GO:0031113]; regulation of microtubule polymerization or depolymerization [GO:0031110]; regulation of microtubule-based process [GO:0032886]; vesicle targeting [GO:0006903]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms exist.; Name=1; Synonyms=CLASP2 gamma; IsoId=O75122-1; Sequence=Displayed; Name=2; Synonyms=CLASP2 beta; IsoId=O75122-2; Sequence=VSP_015805, VSP_015806, VSP_015807; Name=3; IsoId=O75122-3; Sequence=VSP_057273, VSP_057274, VSP_057275, VSP_057276; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15631994, ECO:0000269|PubMed:20937854}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16914514}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:16866869, ECO:0000269|PubMed:16914514}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16866869, ECO:0000269|PubMed:16914514}. Golgi apparatus {ECO:0000250|UniProtKB:Q8BRT1}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:17543864}. Cell membrane {ECO:0000269|PubMed:20937854}. Cell projection, ruffle membrane {ECO:0000269|PubMed:20937854}. Note=Localizes to microtubule plus ends (PubMed:15631994). Localizes to centrosomes, kinetochores and the mitotic spindle from prometaphase. Subsequently localizes to the spindle midzone from anaphase and to the midbody from telophase (PubMed:16866869, PubMed:16914514). In migrating cells localizes to the plus ends of microtubules within the cell body and to the entire microtubule lattice within the lamella. Localizes to the cell cortex and this requires ERC1 and PHLDB2 (PubMed:16824950). The MEMO1-RHOA-DIAPH1 signaling pathway controls localization of the phosphorylated form to the cell membrane. {ECO:0000269|PubMed:15631994, ECO:0000269|PubMed:16824950, ECO:0000269|PubMed:16866869, ECO:0000269|PubMed:16914514, ECO:0000269|PubMed:20937854}.


uniprotID: Q8N2M8
geneSymbol: CLASRP
length: 674
snps: rs4803794
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
CLK4-associating serine/arginine rich protein (Splicing factor, arginine/serine-rich 16) (Suppressor of white-apricot homolog 2)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mRNA processing [GO:0006397]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N2M8-1; Sequence=Displayed; Name=2; IsoId=Q8N2M8-3; Sequence=VSP_013894, VSP_013895; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=3; IsoId=Q8N2M8-4; Sequence=VSP_055717; 


uniprotID: P28329
geneSymbol: CHAT
reactome: R-HSA-1483191;R-HSA-264642;
pdb: 2FY2;2FY3;2FY4;2FY5;
name: Choline O-acetyltransferase (CHOACTase) (ChAT) (Choline acetylase) (EC 2.3.1.6)
length: 748
go: ENSG00000070748;
drug: DB00122;DB00184;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; neuron projection [GO:0043005]; nucleus [GO:0005634]; presynapse [GO:0098793]; choline O-acetyltransferase activity [GO:0004102]; acetylcholine biosynthetic process [GO:0008292]; neuromuscular synaptic transmission [GO:0007274]; neurotransmitter secretion [GO:0007269]; phosphatidylcholine biosynthetic process [GO:0006656]

snps:
rs3810948 rs3810950 rs121912820 rs121912815 rs8178989 rs8178990 rs868749 rs75466054 rs121912823 rs8178991 rs121912822 rs121912816 rs4838544 rs121912818 rs121912821 rs121912817 rs121912819 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=M; Synonyms=83 kDa; IsoId=P28329-1; Sequence=Displayed; Name=S; Synonyms=74 kDa; IsoId=P28329-2; Sequence=VSP_000790; Name=R; Synonyms=70 kDa; IsoId=P28329-3; Sequence=VSP_000791; 


uniprotID: Q96F83
geneSymbol: CLBA1
name: Uncharacterized protein CLBA1 (Clathrin-binding box of aftiphilin-containing protein 1)
length: 325
go: ENSG00000140104;
opentargets: intracellular [GO:0005622]; clathrin binding [GO:0030276]; intracellular transport [GO:0046907]
sequence:


uniprotID: Q8IUN9
geneSymbol: CLEC10A
reactome: R-HSA-5621480;
length: 316
go: ENSG00000132514;
snps: rs90951 rs16956478 rs35318160 rs35101468
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
C-type lectin domain family 10 member A (C-type lectin superfamily member 14) (Macrophage lectin 2) (CD antigen CD301)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; adaptive immune response [GO:0002250]; endocytosis [GO:0006897]; innate immune response [GO:0045087]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IUN9-1; Sequence=Displayed; Name=2; IsoId=Q8IUN9-2; Sequence=VSP_012848, VSP_012849; Name=3; IsoId=Q8IUN9-3; Sequence=VSP_012848, VSP_012850, VSP_012851; 


uniprotID: Q9Y240
geneSymbol: CLEC11A
length: 323
go: ENSG00000105472;
snps: rs2303688
name:
C-type lectin domain family 11 member A (C-type lectin superfamily member 3) (Lymphocyte secreted C-type lectin) (Osteolectin) (Stem cell growth factor) (p47)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; carbohydrate binding [GO:0030246]; growth factor activity [GO:0008083]; ossification [GO:0001503]; positive regulation of cell proliferation [GO:0008284]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11803813}. Secreted {ECO:0000269|PubMed:11803813, ECO:0000269|PubMed:9442024}.


uniprotID: Q92478
geneSymbol: CLEC2B
reactome: R-HSA-198933;
length: 149
go: ENSG00000110852;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
C-type lectin domain family 2 member B (Activation-induced C-type lectin) (C-type lectin superfamily member 2) (IFN-alpha-2b-inducing-related protein 1)

sequence:
MMTKHKKCFIIVGVLITTNIITLIVKLTRDSQSLCPYDWIGFQNKCYYFSKEEGDWNSSKYNCSTQHADLTIIDNIEEMNFLRRYKCSSDHWIGLKMAKNRTGQWVDGATFTKSFGMRGSEGCAYLSDDGAATARCYTERKWICRKRIH

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; identical protein binding [GO:0042802]; regulation of immune response [GO:0050776]


uniprotID: P0C7M8
geneSymbol: CLEC2L
name: C-type lectin domain family 2 member L
length: 214
go: ENSG00000236279;
opentargets: integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: O75596
geneSymbol: CLEC3A
length: 197
snps: rs2072663
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19173304}.
name:
C-type lectin domain family 3 member A (C-type lectin superfamily member 1) (Cartilage-derived C-type lectin)

sequence:
MAKNGLVICILVITLLLDQTTSHTSRLKARKHSKRRVRDKDGDLKTQIEKLWTEVNALKEIQALQTVCLRGTKVHKKCYLASEGLKHFHEANEDCISKGGILVIPRNSDEINALQDYGKRSLPGVNDFWLGINDMVTEGKFVDVNGIAISFLNWDRAQPNGGKRENCVLFSQSAQGKWSDEACRSSKRYICEFTIPQ

opentargets:
extracellular space [GO:0005615]; carbohydrate binding [GO:0030246]; ossification [GO:0001503]; skeletal system development [GO:0001501]


uniprotID: Q9UMR7
geneSymbol: CLEC4A
reactome: R-HSA-5621480;
pdb: 5B1W;5B1X;
length: 237
go: ENSG00000111729;
snps: rs2024301
name:
C-type lectin domain family 4 member A (C-type lectin DDB27) (C-type lectin superfamily member 6) (Dendritic cell immunoreceptor) (Lectin-like immunoreceptor) (CD antigen CD367)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; mannose binding [GO:0005537]; transmembrane signaling receptor activity [GO:0004888]; adaptive immune response [GO:0002250]; antigen processing and presentation of exogenous peptide antigen via MHC class I [GO:0042590]; CD8-positive, alpha-beta T cell activation [GO:0036037]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; innate immune response [GO:0045087]; negative regulation of cytokine production [GO:0001818]; negative regulation of tumor necrosis factor production [GO:0032720]; plasmacytoid dendritic cell antigen processing and presentation [GO:0002470]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UMR7-1; Sequence=Displayed; Name=2; IsoId=Q9UMR7-2; Sequence=VSP_012844; Name=3; Synonyms=llirV1; IsoId=Q9UMR7-3; Sequence=VSP_041348; Name=4; Synonyms=llirV2; IsoId=Q9UMR7-4; Sequence=VSP_012842; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18258799}; Single-pass type II membrane protein {ECO:0000305}; Extracellular side {ECO:0000269|PubMed:18258799}.


uniprotID: Q8WTT0
geneSymbol: CLEC4C
reactome: R-HSA-5621480;R-HSA-6798695;
pdb: 3WBP;3WBQ;3WBR;4ZES;4ZET;
length: 213
go: ENSG00000198178;
name:
C-type lectin domain family 4 member C (Blood dendritic cell antigen 2) (BDCA-2) (C-type lectin superfamily member 7) (Dendritic lectin) (CD antigen CD303)

sequence:

opentargets:
ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; tertiary granule membrane [GO:0070821]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; adaptive immune response [GO:0002250]; innate immune response [GO:0045087]; neutrophil degranulation [GO:0043312]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WTT0-1; Sequence=Displayed; Name=2; IsoId=Q8WTT0-2; Sequence=VSP_012845; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11748283, ECO:0000269|PubMed:21880719}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q9ULY5
geneSymbol: CLEC4E
reactome: R-HSA-5621480;
pdb: 3WH2;3WH3;
length: 219
go: ENSG00000166523;
name:
C-type lectin domain family 4 member E (C-type lectin superfamily member 9) (Macrophage-inducible C-type lectin) (MINCLE)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; signaling receptor activity [GO:0038023]; defense response to bacterium [GO:0042742]; Fc-gamma receptor signaling pathway [GO:0038094]; innate immune response [GO:0045087]; positive regulation of cytokine secretion [GO:0050715]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell differentiation involved in immune response [GO:0002292]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305|PubMed:24101491}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q9NY25
geneSymbol: CLEC5A
reactome: R-HSA-2172127;R-HSA-6798695;
pdb: 2YHF;
length: 188
go: ENSG00000258227;
snps: rs35942193
name:
C-type lectin domain family 5 member A (C-type lectin superfamily member 5) (Myeloid DAP12-associating lectin 1) (MDL-1)

sequence:
MNWHMIISGLIVVVLKVVGMTLFLLYFPQIFNKSNDGFTTTRSYGTVSQIFGSSSPSPNGFITTRSYGTVCPKDWEFYQARCFFLSTSESSWNESRDFCKGKGSTLAIVNTPEKLKFLQDITDAEKYFIGLIYHREEKRWRWINNSVFNGNVTNQNQNFNCATIGLTKTFDAASCDISYRRICEKNAK

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; carbohydrate binding [GO:0030246]; virus receptor activity [GO:0001618]; cellular defense response [GO:0006968]; innate immune response [GO:0045087]; myeloid cell differentiation [GO:0030099]; negative regulation of apoptotic process [GO:0043066]; negative regulation of myeloid cell apoptotic process [GO:0033033]; neutrophil degranulation [GO:0043312]; osteoblast development [GO:0002076]; positive regulation of cytokine secretion [GO:0050715]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NY25-1; Sequence=Displayed; Name=2; IsoId=Q9NY25-2; Sequence=VSP_012839; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21566123}; Single-pass type II membrane protein {ECO:0000269|PubMed:21566123}.


uniprotID: Q6EIG7
geneSymbol: CLEC6A
reactome: R-HSA-5621480;
pdb: 5VYB;
length: 209
go: ENSG00000205846;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
C-type lectin domain family 6 member A (C-type lectin superfamily member 10) (Dendritic cell-associated C-type lectin 2) (DC-associated C-type lectin 2) (Dectin-2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; mannose binding [GO:0005537]; adaptive immune response [GO:0002250]; defense response to fungus [GO:0050832]; innate immune response [GO:0045087]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6EIG7-1; Sequence=Displayed; Name=2; IsoId=Q6EIG7-2; Sequence=VSP_041514; 


uniprotID: Q15582
geneSymbol: TGFBI
reactome: R-HSA-977225;
pdb: 1X3B;2LTB;2LTC;2VXP;5NV6;
length: 683
go: ENSG00000120708;
name:
Transforming growth factor-beta-induced protein ig-h3 (Beta ig-h3) (Kerato-epithelin) (RGD-containing collagen-associated protein) (RGD-CAP)

sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; cell adhesion molecule binding [GO:0050839]; collagen binding [GO:0005518]; extracellular matrix binding [GO:0050840]; extracellular matrix structural constituent [GO:0005201]; integrin binding [GO:0005178]; angiogenesis [GO:0001525]; cell adhesion [GO:0007155]; cell proliferation [GO:0008283]; cellular protein metabolic process [GO:0044267]; chondrocyte differentiation [GO:0002062]; extracellular matrix organization [GO:0030198]; negative regulation of cell adhesion [GO:0007162]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

snps:
rs757933370 rs541270955 rs121909210 rs121909211 rs121909211 rs121909210 rs45455404 rs199852470 rs10057190 rs121909212 rs121909216 rs1050842080 rs1382893670 rs121909214 rs777288957 rs267607109 rs267607110 rs121909209 rs121909208 rs121909215 rs1052006472 rs121909217 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:18450759, ECO:0000269|PubMed:26273833, ECO:0000269|PubMed:8024701}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:8077289}. Note=May be associated both with microfibrils and with the cell surface (PubMed:8077289). {ECO:0000269|PubMed:8077289}.


uniprotID: P09497
geneSymbol: CLTB
name: Clathrin light chain B (Lcb)
length: 229
go: ENSG00000175416;
reactome:
R-HSA-190873;R-HSA-196025;R-HSA-3928665;R-HSA-432720;R-HSA-5099900;R-HSA-5140745;R-HSA-8856825;R-HSA-8856828;

sequence:

opentargets:
ciliary membrane [GO:0060170]; clathrin coat [GO:0030118]; clathrin coat of coated pit [GO:0030132]; clathrin coat of trans-Golgi network vesicle [GO:0030130]; clathrin vesicle coat [GO:0030125]; clathrin-coated endocytic vesicle [GO:0045334]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; postsynaptic endocytic zone cytoplasmic component [GO:0099631]; presynaptic endocytic zone membrane [GO:0098835]; synaptic vesicle membrane [GO:0030672]; trans-Golgi network [GO:0005802]; clathrin heavy chain binding [GO:0032050]; peptide binding [GO:0042277]; structural molecule activity [GO:0005198]; clathrin coat assembly [GO:0048268]; clathrin-dependent endocytosis [GO:0072583]; intracellular protein transport [GO:0006886]; membrane organization [GO:0061024]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Brain; IsoId=P09497-1; Sequence=Displayed; Name=Non-brain; IsoId=P09497-2; Sequence=VSP_001098; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=Cytoplasmic face of coated pits and vesicles.


uniprotID: P51801
geneSymbol: CLCNKB
reactome: R-HSA-2672351;
name: Chloride channel protein ClC-Kb (Chloride channel Kb) (ClC-K2)
length: 687
go: ENSG00000184908;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
chloride channel complex [GO:0034707]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; voltage-gated chloride channel activity [GO:0005247]; excretion [GO:0007588]; ion transmembrane transport [GO:0034220]; regulation of ion transmembrane transport [GO:0034765]

snps:
rs34851419 rs2015352 rs5256 rs35530360 rs121909131 rs5259 rs121909132 rs1889789 rs7367494 rs5251 rs121909134 rs34255952 rs6650119 rs121909135 rs121909133 rs12140311 rs5253 rs2275166 rs5255 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51801-1; Sequence=Displayed; Name=2; IsoId=P51801-2; Sequence=VSP_045965, VSP_045966, VSP_045967; Note=No experimental confirmation available.; 


uniprotID: P35523
geneSymbol: CLCN1
reactome: R-HSA-2672351;
pdb: 6COY;6COZ;
name: Chloride channel protein 1 (ClC-1) (Chloride channel protein, skeletal muscle)
length: 988
go: ENSG00000188037;
sequence:

opentargets:
chloride channel complex [GO:0034707]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; protein homodimerization activity [GO:0042803]; voltage-gated chloride channel activity [GO:0005247]; chloride transmembrane transport [GO:1902476]; ion transmembrane transport [GO:0034220]; muscle contraction [GO:0006936]; neuronal action potential propagation [GO:0019227]; regulation of ion transmembrane transport [GO:0034765]

snps:
rs769312894 rs772100356 rs201509501 rs10282312 rs80356699 rs748639603 rs111482384 rs771532474 rs149729531 rs797045032 rs80356686 rs80356700 rs200621976 rs757109632 rs150885084 rs80356689 rs80356690 rs121912805 rs118066140 rs80356701 rs80356692 rs80356702 rs774396430 rs80356703 rs1279658001 rs121912799 rs41276054 rs376026619 rs80356694 rs746125212 rs1312002847 rs146457619 rs121912801 rs121912807 rs546411827 rs80356696 rs80356697 rs140205115 rs13438232 rs755433272 rs80356706 rs201506176 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12456816, ECO:0000269|PubMed:26502825, ECO:0000269|PubMed:8112288, ECO:0000269|PubMed:9122265}; Multi-pass membrane protein {ECO:0000269|PubMed:29809153}.


uniprotID: P51788
geneSymbol: CLCN2
reactome: R-HSA-2672351;
name: Chloride channel protein 2 (ClC-2)
length: 898
go: ENSG00000114859;
drug: DB01046;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P35525}; Multi-pass membrane protein.
sequence:

opentargets:
chloride channel complex [GO:0034707]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated chloride channel activity [GO:0005247]; cell differentiation involved in salivary gland development [GO:0060689]; ion transmembrane transport [GO:0034220]; regulation of ion transmembrane transport [GO:0034765]; retina development in camera-type eye [GO:0060041]

snps:
rs115661422 rs61729156 rs863225248 rs71318369 rs587777111 rs137852682 rs148545588 rs115961753 rs9820367 rs137852681 rs2228292 rs138573287 rs114702742 rs144164281 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P51788-1; Sequence=Displayed; Name=2; IsoId=P51788-2; Sequence=VSP_007831, VSP_007832, VSP_036455; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=P51788-3; Sequence=VSP_036456; Name=4; IsoId=P51788-4; Sequence=VSP_045457; Note=No experimental confirmation available.; Name=5; IsoId=P51788-5; Sequence=VSP_045458; Note=No experimental confirmation available.; 


uniprotID: P51795
geneSymbol: CLCN5
reactome: R-HSA-2672351;
pdb: 2J9L;2JA3;
name: H(+)/Cl(-) exchange transporter 5 (Chloride channel protein 5) (ClC-5) (Chloride transporter ClC-5)
length: 746
go: ENSG00000171365;
sequence:

opentargets:
apical part of cell [GO:0045177]; cytosol [GO:0005829]; early endosome [GO:0005769]; endosome [GO:0005768]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; plasma membrane [GO:0005886]; antiporter activity [GO:0015297]; ATP binding [GO:0005524]; chloride channel activity [GO:0005254]; chloride ion binding [GO:0031404]; identical protein binding [GO:0042802]; solute:proton antiporter activity [GO:0015299]; voltage-gated chloride channel activity [GO:0005247]; excretion [GO:0007588]; ion transmembrane transport [GO:0034220]

snps:
rs151340629 rs34800648 rs151340622 rs273585645 rs151340626 rs151340630 rs273585644 rs273585648 rs151340628 rs273585646 rs151340625 rs273585647 rs797044812 rs151340623 rs273585650 rs144207967 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51795-1; Sequence=Displayed; Name=2; IsoId=P51795-2; Sequence=VSP_042046; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:19019917}; Multi-pass membrane protein {ECO:0000269|PubMed:19019917}. Endosome membrane {ECO:0000269|PubMed:19019917}; Multi-pass membrane protein {ECO:0000269|PubMed:19019917}. Cell membrane {ECO:0000269|PubMed:19019917}; Multi-pass membrane protein {ECO:0000269|PubMed:19019917}.


uniprotID: O95500
geneSymbol: CLDN14
reactome: R-HSA-420029;
name: Claudin-14
length: 239
go: ENSG00000159261;
snps: rs113831133 rs368027306 rs74315437 rs786204841
location: SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
bicellular tight junction [GO:0005923]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; protein-containing complex assembly [GO:0065003]


uniprotID: P56750
geneSymbol: CLDN17
reactome: R-HSA-420029;
name: Claudin-17
length: 224
go: ENSG00000156282;
snps: rs35531957
sequence:

opentargets:
bicellular tight junction [GO:0005923]; chloride channel complex [GO:0034707]; plasma membrane [GO:0005886]; chloride channel activity [GO:0005254]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:22402829}. Cell membrane {ECO:0000269|PubMed:20375010}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P56880
geneSymbol: CLDN20
reactome: R-HSA-420029;
name: Claudin-20
length: 219
go: ENSG00000171217;
location: SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]


uniprotID: Q8N7P3
geneSymbol: CLDN22
reactome: R-HSA-420029;
name: Claudin-22
length: 220
go: ENSG00000177300;
sequence:


uniprotID: Q96B33
geneSymbol: CLDN23
reactome: R-HSA-420029;
name: Claudin-23
length: 292
go: ENSG00000253958;
snps: rs12548737
sequence:


uniprotID: H7C241
geneSymbol: CLDN34
name: Claudin-34
length: 214
sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; structural molecule activity [GO:0005198]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250|UniProtKB:O88552}. Cell membrane {ECO:0000250|UniProtKB:O88552}; Multi-pass membrane protein {ECO:0000250|UniProtKB:O88552}.


uniprotID: O15551
geneSymbol: CLDN3
reactome: R-HSA-420029;
length: 220
go: ENSG00000165215;
name:
Claudin-3 (Clostridium perfringens enterotoxin receptor 2) (CPE-R 2) (CPE-receptor 2) (Rat ventral prostate.1 protein homolog) (hRVP1)

sequence:

opentargets:
apicolateral plasma membrane [GO:0016327]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; lateral plasma membrane [GO:0016328]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; transmembrane signaling receptor activity [GO:0004888]; bicellular tight junction assembly [GO:0070830]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; epithelial cell morphogenesis [GO:0003382]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; response to ethanol [GO:0045471]; response to hypoxia [GO:0001666]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250|UniProtKB:Q9Z0G9}. Cell membrane {ECO:0000250|UniProtKB:Q9Z0G9}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9Z0G9}.


uniprotID: O00501
geneSymbol: CLDN5
reactome: R-HSA-420029;R-HSA-8935964;
name: Claudin-5 (Transmembrane protein deleted in VCFS) (TMDVCF)
length: 218
go: ENSG00000184113;
location: SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
apicolateral plasma membrane [GO:0016327]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; cell-cell junction [GO:0005911]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; cell-cell junction assembly [GO:0007043]; face morphogenesis [GO:0060325]; learning [GO:0007612]; outflow tract morphogenesis [GO:0003151]; positive regulation of establishment of endothelial barrier [GO:1903142]; regulation of bicellular tight junction assembly [GO:2000810]; roof of mouth development [GO:0060021]; transforming growth factor beta receptor signaling pathway [GO:0007179]


uniprotID: P56747
geneSymbol: CLDN6
reactome: R-HSA-420029;
name: Claudin-6 (Skullin)
length: 220
go: ENSG00000184697;
snps: rs2257295
sequence:

opentargets:
apicolateral plasma membrane [GO:0016327]; bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; virus receptor activity [GO:0001618]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; cell-cell junction organization [GO:0045216]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250|UniProtKB:Q9Z262}. Cell membrane {ECO:0000269|PubMed:20375010}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: O95471
geneSymbol: CLDN7
reactome: R-HSA-420029;
name: Claudin-7 (CLDN-7)
length: 211
go: ENSG00000181885;
snps: rs17849410 rs4562
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95471-1; Sequence=Displayed; Name=2; Synonyms=t-CLDN-7; IsoId=O95471-2; Sequence=VSP_013230; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12673207, ECO:0000269|PubMed:14502431, ECO:0000269|PubMed:20375010}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000269|PubMed:16054130}. Cell junction, tight junction {ECO:0000269|PubMed:16054130}. Note=Co-localizes with EPCAM at the basolateral cell membrane and tight junction. {ECO:0000269|PubMed:16054130}.


uniprotID: O95484
geneSymbol: CLDN9
reactome: R-HSA-420029;
name: Claudin-9
length: 217
go: ENSG00000213937;
sequence:

opentargets:
bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; virus receptor activity [GO:0001618]; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules [GO:0016338]; cell-cell junction organization [GO:0045216]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane {ECO:0000269|PubMed:20375010}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9NY35
geneSymbol: CLDND1
name: Claudin domain-containing protein 1 (Membrane protein GENX-3745)
length: 253
go: ENSG00000080822;
opentargets: cell surface [GO:0009986]; integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NY35-1; Sequence=Displayed; Name=2; IsoId=Q9NY35-2; Sequence=VSP_013156, VSP_013157; Name=3; IsoId=Q9NY35-3; Sequence=VSP_046865; Note=No experimental confirmation available.; 


uniprotID: Q6P575
geneSymbol: GUSBP11
name: Putative inactive beta-glucuronidase protein GUSBP11 (Beta-glucuronidase pseudogene 11)
length: 273
sequence:

opentargets:
lysosome [GO:0005764]; beta-glucuronidase activity [GO:0004566]; carbohydrate binding [GO:0030246]; glucuronoside catabolic process [GO:0019391]


uniprotID: Q00610
geneSymbol: CLTC
pdb: 2XZG;4G55;
name: Clathrin heavy chain 1 (Clathrin heavy chain on chromosome 17) (CLH-17)
length: 1675
go: ENSG00000141367;
reactome:
R-HSA-168275;R-HSA-177504;R-HSA-190873;R-HSA-196025;R-HSA-2132295;R-HSA-3928665;R-HSA-432720;R-HSA-432722;R-HSA-437239;R-HSA-5099900;R-HSA-5140745;R-HSA-8856825;R-HSA-8856828;R-HSA-8866427;R-HSA-8964038;

sequence:

opentargets:
clathrin coat [GO:0030118]; clathrin coat of coated pit [GO:0030132]; clathrin coat of trans-Golgi network vesicle [GO:0030130]; clathrin complex [GO:0071439]; clathrin-coated endocytic vesicle [GO:0045334]; clathrin-coated endocytic vesicle membrane [GO:0030669]; clathrin-coated vesicle [GO:0030136]; cytosol [GO:0005829]; endolysosome membrane [GO:0036020]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; focal adhesion [GO:0005925]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; melanosome [GO:0042470]; membrane [GO:0016020]; mitotic spindle [GO:0072686]; mitotic spindle microtubule [GO:1990498]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; spindle [GO:0005819]; T-tubule [GO:0030315]; trans-Golgi network membrane [GO:0032588]; ankyrin binding [GO:0030506]; arrestin family protein binding [GO:1990763]; clathrin light chain binding [GO:0032051]; disordered domain specific binding [GO:0097718]; double-stranded RNA binding [GO:0003725]; heat shock protein binding [GO:0031072]; identical protein binding [GO:0042802]; low-density lipoprotein particle receptor binding [GO:0050750]; peptide binding [GO:0042277]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; structural molecule activity [GO:0005198]; ubiquitin-specific protease binding [GO:1990381]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; autophagy [GO:0006914]; cell division [GO:0051301]; clathrin coat assembly [GO:0048268]; clathrin-dependent endocytosis [GO:0072583]; intracellular protein transport [GO:0006886]; low-density lipoprotein particle clearance [GO:0034383]; low-density lipoprotein particle receptor catabolic process [GO:0032802]; membrane organization [GO:0061024]; mitotic cell cycle [GO:0000278]; negative regulation of hyaluronan biosynthetic process [GO:1900126]; negative regulation of protein localization to plasma membrane [GO:1903077]; osteoblast differentiation [GO:0001649]; receptor internalization [GO:0031623]; receptor-mediated endocytosis [GO:0006898]; regulation of mitotic spindle organization [GO:0060236]; retrograde transport, endosome to Golgi [GO:0042147]; transcytosis [GO:0045056]; transferrin transport [GO:0033572]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q00610-1; Sequence=Displayed; Name=2; IsoId=Q00610-2; Sequence=VSP_011570, VSP_011571; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000269|PubMed:17081065}; Peripheral membrane protein {ECO:0000269|PubMed:17081065}; Cytoplasmic side {ECO:0000269|PubMed:17081065}. Membrane, coated pit {ECO:0000269|PubMed:17081065}; Peripheral membrane protein {ECO:0000269|PubMed:17081065}; Cytoplasmic side {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15858577, ECO:0000269|PubMed:16968737, ECO:0000269|PubMed:23918938}. Note=Cytoplasmic face of coated pits and vesicles. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In complex with TACC3 and CKAP5 (forming the TACC3/ch-TOG/clathrin complex) localized to inter-microtubule bridges in mitotic spindles. {ECO:0000269|PubMed:25596274}.


uniprotID: O00299
geneSymbol: CLIC1
pdb: 1K0M;1K0N;1K0O;1RK4;3O3T;3P8W;3P90;3QR6;3SWL;3TGZ;3UVH;4IQA;4JZQ;4K0G;4K0N;
length: 241
go: ENSG00000213719;
name:
Chloride intracellular channel protein 1 (Chloride channel ABP) (Nuclear chloride ion channel 27) (NCC27) (Regulatory nuclear chloride ion channel protein) (hRNCC)

sequence:

opentargets:
blood microparticle [GO:0072562]; brush border [GO:0005903]; chloride channel complex [GO:0034707]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; cadherin binding [GO:0045296]; chloride channel activity [GO:0005254]; voltage-gated ion channel activity [GO:0005244]; chloride transport [GO:0006821]; platelet aggregation [GO:0070527]; positive regulation of osteoblast differentiation [GO:0045669]; regulation of cell cycle [GO:0051726]; regulation of ion transmembrane transport [GO:0034765]; regulation of mitochondrial membrane potential [GO:0051881]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cytoplasm. Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Note=Mostly in the nucleus including in the nuclear membrane. Small amount in the cytoplasm and the plasma membrane. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain.


uniprotID: Q7RTU4
geneSymbol: BHLHA9
length: 235
go: ENSG00000205899;
snps: rs672601337 rs672601338 rs886037856 rs672601339
name:
Class A basic helix-loop-helix protein 9 (bHLHa9) (Class F basic helix-loop-helix factor 42) (bHLHf42)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; multicellular organism development [GO:0007275]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}. Cytoplasm {ECO:0000269|PubMed:25466284}.


uniprotID: O15247
geneSymbol: CLIC2
reactome: R-HSA-2672351;R-HSA-5578775;
pdb: 2PER;2R4V;2R5G;
name: Chloride intracellular channel protein 2 (XAP121)
length: 247
go: ENSG00000155962;
snps: rs398122917
sequence:

opentargets:
chloride channel complex [GO:0034707]; cytoplasm [GO:0005737]; intracellular [GO:0005622]; nucleus [GO:0005634]; chloride channel activity [GO:0005254]; glutathione peroxidase activity [GO:0004602]; voltage-gated ion channel activity [GO:0005244]; negative regulation of ryanodine-sensitive calcium-release channel activity [GO:0060315]; positive regulation of binding [GO:0051099]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15916532}. Membrane {ECO:0000305|PubMed:15916532}; Single-pass membrane protein {ECO:0000305|PubMed:15916532}. Note=Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain.


uniprotID: Q9Y696
geneSymbol: CLIC4
pdb: 2AHE;2D2Z;3OQS;
name: Chloride intracellular channel protein 4 (Intracellular chloride ion channel protein p64H1)
length: 253
go: ENSG00000169504;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; apical part of cell [GO:0045177]; cell surface [GO:0009986]; cell-cell junction [GO:0005911]; centrosome [GO:0005813]; chloride channel complex [GO:0034707]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular [GO:0005622]; microvillus [GO:0005902]; midbody [GO:0030496]; mitochondrion [GO:0005739]; nuclear matrix [GO:0016363]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; chloride channel activity [GO:0005254]; voltage-gated ion channel activity [GO:0005244]; angiogenesis [GO:0001525]; branching morphogenesis of an epithelial tube [GO:0048754]; cell differentiation [GO:0030154]; cellular response to calcium ion [GO:0071277]; chloride transport [GO:0006821]; endothelial cell morphogenesis [GO:0001886]; establishment or maintenance of apical/basal cell polarity [GO:0035088]; fertilization [GO:0009566]; keratinocyte differentiation [GO:0030216]; multicellular organism growth [GO:0035264]; negative regulation of cell migration [GO:0030336]; regulation of cytoskeleton organization [GO:0051493]; regulation of ion transmembrane transport [GO:0034765]; retina vasculature morphogenesis in camera-type eye [GO:0061299]; vacuolar acidification [GO:0007035]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasmic vesicle membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Nucleus matrix. Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Mitochondrion. Cell junction. Note=Colocalized with AKAP9 at the centrosome and midbody. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain. Present in an intracellular vesicular compartment that likely represent trans-Golgi network vesicles.


uniprotID: O14503
geneSymbol: BHLHE40
reactome: R-HSA-1368108;
length: 412
go: ENSG00000134107;
name:
Class E basic helix-loop-helix protein 40 (bHLHe40) (Class B basic helix-loop-helix protein 2) (bHLHb2) (Differentially expressed in chondrocytes protein 1) (DEC1) (Enhancer-of-split and hairy-related protein 2) (SHARP-2) (Stimulated by retinoic acid gene 13 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleus [GO:0005634]; bHLH transcription factor binding [GO:0043425]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; E-box binding [GO:0070888]; MRF binding [GO:0043426]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cell differentiation [GO:0030154]; circadian regulation of gene expression [GO:0032922]; entrainment of circadian clock by photoperiod [GO:0043153]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; Notch signaling pathway [GO:0007219]; regulation of neurogenesis [GO:0050767]; regulation of transcription, DNA-templated [GO:0006355]; somitogenesis [GO:0001756]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21829689}. Nucleus {ECO:0000269|PubMed:11278694, ECO:0000269|PubMed:21829689}. Note=Predominantly localized in the nucleus (PubMed:11278694). {ECO:0000269|PubMed:11278694}.


uniprotID: Q96NY7
geneSymbol: CLIC6
name: Chloride intracellular channel protein 6 (Parchorin)
length: 704
go: ENSG00000159212;
snps: rs3171439
sequence:

opentargets:
chloride channel complex [GO:0034707]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; chloride channel activity [GO:0005254]; D2 dopamine receptor binding [GO:0031749]; D3 dopamine receptor binding [GO:0031750]; D4 dopamine receptor binding [GO:0031751]; voltage-gated ion channel activity [GO:0005244]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=B; IsoId=Q96NY7-1; Sequence=Displayed; Name=A; IsoId=Q96NY7-2; Sequence=VSP_008963; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=Predominantly cytoplasmic. Upon chloride ion efflux from the cell, it is translocated to the plasma membrane (By similarity). {ECO:0000250}.


uniprotID: C9JSJ3
geneSymbol: BHMG1
name: Basic helix-loop-helix and HMG box domain-containing protein 1
length: 638
go: ENSG00000237452;
opentargets: nucleus [GO:0005634]; DNA binding [GO:0003677]; protein dimerization activity [GO:0046983]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:


uniprotID: Q6PI77
geneSymbol: BHLHB9
name: Protein BHLHb9 (bHLHb9) (Transcription regulator of 60 kDa) (p60TRP)
length: 547
go: ENSG00000198908;
snps: rs2179675 rs4514179
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; protein homodimerization activity [GO:0042803]; learning or memory [GO:0007611]; negative regulation of neuron apoptotic process [GO:0043524]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of neurogenesis [GO:0050769]; positive regulation of synapse assembly [GO:0051965]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15034937}. Nucleus {ECO:0000269|PubMed:15034937}. Note=Mainly cytoplasmic, and nuclear at lower level.


uniprotID: Q9H2M3
geneSymbol: BHMT2
reactome: R-HSA-1614635;
length: 363
go: ENSG00000132840;
drug: DB00134;
name:
S-methylmethionine--homocysteine S-methyltransferase BHMT2 (SMM-hcy methyltransferase) (EC 2.1.1.10) (Betaine--homocysteine S-methyltransferase 2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; betaine-homocysteine S-methyltransferase activity [GO:0047150]; S-methylmethionine-homocysteine S-methyltransferase activity [GO:0061627]; zinc ion binding [GO:0008270]; L-methionine salvage [GO:0071267]; S-adenosylmethionine metabolic process [GO:0046500]; S-methylmethionine metabolic process [GO:0033477]; sulfur amino acid metabolic process [GO:0000096]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2M3-1; Sequence=Displayed; Name=2; IsoId=Q9H2M3-2; Sequence=VSP_042938; Note=No experimental confirmation available.; 


uniprotID: P49759
geneSymbol: CLK1
pdb: 1Z57;2VAG;5J1V;5J1W;5X8I;6FT8;6FT9;6FYO;6G33;
name: Dual specificity protein kinase CLK1 (EC 2.7.12.1) (CDC-like kinase 1)
length: 484
go: ENSG00000013441;
drug: DB04367;
snps: rs55989135 rs6735666 rs56135616 rs35412475 rs35393352 rs12709
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; cell proliferation [GO:0008283]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; protein autophosphorylation [GO:0046777]; regulation of RNA splicing [GO:0043484]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=P49759-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P49759-2; Sequence=VSP_004852, VSP_004853; Note=Lacks the kinase domain. 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=P49759-3; Sequence=VSP_043578; Note=No experimental confirmation available.; 


uniprotID: P55061
geneSymbol: TMBIM6
length: 237
go: ENSG00000139644;
name:
Bax inhibitor 1 (BI-1) (Testis-enhanced gene transcript protein) (Transmembrane BAX inhibitor motif-containing protein 6)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; mitochondrial membrane [GO:0031966]; nucleus [GO:0005634]; endoribonuclease inhibitor activity [GO:0060698]; enzyme binding [GO:0019899]; ubiquitin protein ligase binding [GO:0031625]; autophagy [GO:0006914]; cellular response to unfolded protein [GO:0034620]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; negative regulation of apoptotic process [GO:0043066]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of calcium ion transport into cytosol [GO:0010523]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of endoribonuclease activity [GO:0060702]; negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway [GO:1903298]; negative regulation of immunoglobulin secretion [GO:0051025]; negative regulation of protein binding [GO:0032091]; negative regulation of RNA splicing [GO:0033119]; negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990441]; response to L-glutamate [GO:1902065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55061-1; Sequence=Displayed; Name=2; IsoId=P55061-2; Sequence=VSP_055119; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21075086, ECO:0000269|PubMed:22128171}; Multi-pass membrane protein {ECO:0000269|PubMed:21075086, ECO:0000269|PubMed:22128171}.


uniprotID: Q8TDQ1
geneSymbol: CD300LF
reactome: R-HSA-198933;
pdb: 2NMS;
length: 290
go: ENSG00000186074;
snps: rs35489971 rs2034310
name:
CMRF35-like molecule 1 (CLM-1) (CD300 antigen-like family member F) (Immune receptor expressed on myeloid cells 1) (IREM-1) (Immunoglobulin superfamily member 13) (IgSF13) (NK inhibitory receptor) (CD antigen CD300f)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ceramide binding [GO:0097001]; interleukin-4 receptor binding [GO:0005136]; phosphatidylserine binding [GO:0001786]; interleukin-13-mediated signaling pathway [GO:0035772]; negative regulation of apoptotic cell clearance [GO:2000426]; negative regulation of mast cell activation [GO:0033004]; negative regulation of MyD88-dependent toll-like receptor signaling pathway [GO:0034125]; positive regulation of apoptotic cell clearance [GO:2000427]; positive regulation of interleukin-4-mediated signaling pathway [GO:1902216]; regulation of immune response [GO:0050776]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8TDQ1-1; Sequence=Displayed; Name=2; IsoId=Q8TDQ1-2; Sequence=VSP_020056, VSP_020057, VSP_020062, VSP_020064; Note=No experimental confirmation available.; Name=3; IsoId=Q8TDQ1-3; Sequence=VSP_020056, VSP_020060, VSP_020061; Name=4; IsoId=Q8TDQ1-4; Sequence=VSP_020056, VSP_020058, VSP_020063; Note=No experimental confirmation available.; Name=5; IsoId=Q8TDQ1-5; Sequence=VSP_020059, VSP_020065; Note=No experimental confirmation available.; Name=6; IsoId=Q8TDQ1-6; Sequence=VSP_020056; 


uniprotID: Q9UGN4
geneSymbol: CD300A
reactome: R-HSA-198933;R-HSA-6798695;
pdb: 2Q87;
length: 299
go: ENSG00000167851;
snps: rs2272111
name:
CMRF35-like molecule 8 (CLM-8) (CD300 antigen-like family member A) (CMRF-35-H9) (CMRF35-H9) (CMRF35-H) (IRC1/IRC2) (Immunoglobulin superfamily member 12) (IgSF12) (Inhibitory receptor protein 60) (IRp60) (NK inhibitory receptor) (CD antigen CD300a)

sequence:

opentargets:
extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821]; phosphatidylethanolamine binding [GO:0008429]; phosphatidylserine binding [GO:0001786]; signaling receptor activity [GO:0038023]; cell adhesion [GO:0007155]; negative regulation of activation of Janus kinase activity [GO:1902569]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of B cell receptor signaling pathway [GO:0050859]; negative regulation of eosinophil activation [GO:1902567]; negative regulation of eosinophil migration [GO:2000417]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of mast cell activation involved in immune response [GO:0033007]; negative regulation of mast cell degranulation [GO:0043305]; negative regulation of MyD88-dependent toll-like receptor signaling pathway [GO:0034125]; negative regulation of neutrophil activation [GO:1902564]; negative regulation of NK T cell activation [GO:0051134]; negative regulation of phagocytosis, engulfment [GO:0060101]; neutrophil degranulation [GO:0043312]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; regulation of immune response [GO:0050776]; regulation of T cell receptor signaling pathway [GO:0050856]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=IRC1a; IsoId=Q9UGN4-1; Sequence=Displayed; Name=2; Synonyms=IRC1c; IsoId=Q9UGN4-2; Sequence=VSP_010559; Name=3; Synonyms=IRC1b; IsoId=Q9UGN4-3; Sequence=VSP_010558; Name=4; IsoId=Q9UGN4-4; Sequence=VSP_010559, VSP_041246; 


uniprotID: Q6UXG3
geneSymbol: CD300LG
reactome: R-HSA-198933;
length: 332
go: ENSG00000161649;
snps: rs17852267 rs12453522
name:
CMRF35-like molecule 9 (CLM-9) (CD300 antigen-like family member G) (Triggering receptor expressed on myeloid cells 4) (TREM-4) (CD antigen CD300g)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; integral component of membrane [GO:0016021]; multivesicular body membrane [GO:0032585]; plasma membrane [GO:0005886]; immune system process [GO:0002376]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=CD300LG-gamma; IsoId=Q6UXG3-1; Sequence=Displayed; Name=2; Synonyms=TREM4-alpha, CD300LG-alpha 1; IsoId=Q6UXG3-2; Sequence=VSP_028410, VSP_028411; Name=3; Synonyms=TREM4-beta, CD300LG-alpha 2; IsoId=Q6UXG3-3; Sequence=VSP_028410, VSP_028412; Name=4; IsoId=Q6UXG3-4; Sequence=VSP_028412; Note=No experimental confirmation available.; Name=5; IsoId=Q6UXG3-5; Sequence=VSP_045362, VSP_028412; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:Q1ERP8}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q1ERP8}. Basolateral cell membrane {ECO:0000250|UniProtKB:Q1ERP8}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q1ERP8}. Endosome, multivesicular body membrane {ECO:0000250|UniProtKB:Q1ERP8}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q1ERP8}. Note=Transcytoses across the cytoplasm. {ECO:0000250|UniProtKB:Q1ERP8}.


uniprotID: Q96JQ2
geneSymbol: CLMN
name: Calmin (Calponin-like transmembrane domain protein)
length: 1002
go: ENSG00000165959;
snps: rs10149705
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; meiotic nuclear membrane microtubule tethering complex [GO:0034993]; nuclear outer membrane [GO:0005640]; actin filament binding [GO:0051015]; cytoskeletal anchoring at nuclear membrane [GO:0090286]; negative regulation of cell proliferation [GO:0008285]; neuron projection development [GO:0031175]; nuclear migration [GO:0007097]; nucleus localization [GO:0051647]


uniprotID: Q9H6B4
geneSymbol: CLMP
length: 373
go: ENSG00000166250;
snps: rs2276348 rs587776967
name:
CXADR-like membrane protein (Adipocyte adhesion molecule) (Coxsackie- and adenovirus receptor-like membrane protein) (CAR-like membrane protein)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; cell surface [GO:0009986]; cytoplasmic microtubule [GO:0005881]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; digestive tract development [GO:0048565]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:14573622, ECO:0000269|PubMed:22155368}. Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: Q13286
geneSymbol: CLN3
name: Battenin (Batten disease protein) (Protein CLN3)
length: 438
go: ENSG00000188603;ENSG00000261832;
sequence:

opentargets:
autophagosome [GO:0005776]; caveola [GO:0005901]; cytoplasm [GO:0005737]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane raft [GO:0045121]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; synaptic vesicle [GO:0008021]; trans-Golgi network [GO:0005802]; unfolded protein binding [GO:0051082]; action potential [GO:0001508]; amyloid precursor protein catabolic process [GO:0042987]; arginine transport [GO:0015809]; associative learning [GO:0008306]; autophagosome maturation [GO:0097352]; cellular amino acid metabolic process [GO:0006520]; ceramide metabolic process [GO:0006672]; galactosylceramide metabolic process [GO:0006681]; globoside metabolic process [GO:0001575]; glucosylceramide metabolic process [GO:0006678]; ionotropic glutamate receptor signaling pathway [GO:0035235]; lysosomal lumen acidification [GO:0007042]; lysosomal lumen pH elevation [GO:0035752]; lysosome organization [GO:0007040]; macroautophagy [GO:0016236]; membrane organization [GO:0061024]; negative regulation of apoptotic process [GO:0043066]; negative regulation of catalytic activity [GO:0043086]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of proteolysis [GO:0045861]; neuromuscular process controlling balance [GO:0050885]; neurotransmitter metabolic process [GO:0042133]; protein catabolic process [GO:0030163]; protein processing [GO:0016485]; receptor-mediated endocytosis [GO:0006898]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of intracellular pH [GO:0051453]; sphingomyelin metabolic process [GO:0006684]; vesicle transport along microtubule [GO:0047496]

snps:
rs386833714 rs386833719 rs386833727 rs386833730 rs386833731 rs121434286 rs386833744 rs386833694 rs386833695 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q13286-1; Sequence=Displayed; Name=2; IsoId=Q13286-2; Sequence=VSP_004166; Name=3; IsoId=Q13286-3; Sequence=VSP_004167; Name=4; IsoId=Q13286-4; Sequence=VSP_004168; Note=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=Q13286-5; Sequence=VSP_004169, VSP_004170; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; IsoId=Q13286-6; Sequence=VSP_047631, VSP_047632; Name=7; IsoId=Q13286-7; Sequence=VSP_057347; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17286803, ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:17286803, ECO:0000269|PubMed:17897319}. Late endosome {ECO:0000269|PubMed:17286803}. Lysosome {ECO:0000269|PubMed:19941651}.


uniprotID: Q9NWW5
geneSymbol: CLN6
name: Ceroid-lipofuscinosis neuronal protein 6 (Protein CLN6)
length: 311
go: ENSG00000128973;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; protein homodimerization activity [GO:0042803]; cellular macromolecule catabolic process [GO:0044265]; cholesterol metabolic process [GO:0008203]; ganglioside metabolic process [GO:0001573]; glycosaminoglycan metabolic process [GO:0030203]; locomotion involved in locomotory behavior [GO:0031987]; lysosomal lumen acidification [GO:0007042]; lysosome organization [GO:0007040]; positive regulation of proteolysis [GO:0045862]; protein catabolic process [GO:0030163]; visual perception [GO:0007601]

snps:
rs154774636 rs112239768 rs763944821 rs146198681 rs154774635 rs751486476 rs154774633 rs104894483 rs154774641 rs154774634 rs104894484 rs747229909 rs154774638 rs919850756 rs764571295 rs764571295 rs959199004 rs374681194 rs150363441 rs1194940137 rs758921701 rs750937323 rs143578698 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWW5-1; Sequence=Displayed; Name=2; IsoId=Q9NWW5-2; Sequence=VSP_056197; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15265688}; Multi-pass membrane protein {ECO:0000269|PubMed:15265688}. Endoplasmic reticulum {ECO:0000269|PubMed:19941651}.


uniprotID: Q9Y6D6
geneSymbol: ARFGEF1
pdb: 3LTL;5EE5;5J5C;
length: 1849
go: ENSG00000066777;
snps: rs4321984
name:
Brefeldin A-inhibited guanine nucleotide-exchange protein 1 (Brefeldin A-inhibited GEP 1) (ADP-ribosylation factor guanine nucleotide-exchange factor 1) (p200 ARF guanine nucleotide exchange factor) (p200 ARF-GEP1)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; small nuclear ribonucleoprotein complex [GO:0030532]; trans-Golgi network [GO:0005802]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; guanyl-nucleotide exchange factor activity [GO:0005085]; myosin binding [GO:0017022]; protein kinase A regulatory subunit binding [GO:0034237]; endomembrane system organization [GO:0010256]; exocytosis [GO:0006887]; Golgi organization [GO:0007030]; negative regulation of actin filament polymerization [GO:0030837]; negative regulation of GTPase activity [GO:0034260]; neuron projection development [GO:0031175]; positive regulation of GTPase activity [GO:0043547]; positive regulation of protein glycosylation in Golgi [GO:0090284]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of wound healing [GO:0090303]; protein transport [GO:0015031]; regulation of ARF protein signal transduction [GO:0032012]; regulation of establishment of cell polarity [GO:2000114]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Golgi apparatus. Golgi apparatus, trans-Golgi network {ECO:0000250}. Nucleus. Nucleus, nucleolus. Nucleus matrix. Membrane. Note=Translocates from cytoplasm to membranes and nucleus upon cAMP treatment.


uniprotID: Q5TH69
geneSymbol: ARFGEF3
name: Brefeldin A-inhibited guanine nucleotide-exchange protein 3 (ARFGEF family member 3)
length: 2177
go: ENSG00000112379;
snps: rs9376338 rs7764091 rs3736706 rs35964895
sequence:

opentargets:
integral component of membrane [GO:0016021]; transport vesicle membrane [GO:0030658]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; negative regulation of phosphatase activity [GO:0010923]; regulation of ARF protein signal transduction [GO:0032012]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19496786}. Cytoplasmic vesicle, secretory vesicle {ECO:0000250|UniProtKB:Q3UGY8}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q13323
geneSymbol: BIK
pdb: 2IPE;
name: Bcl-2-interacting killer (Apoptosis inducer NBK) (BIP1) (BP4)
length: 160
go: ENSG00000100290;
snps: rs4988415 rs11090143 rs11574527
sequence:
MSEVRPLSRDILMETLLYEQLLEPPTMEVLGMTDSEEDLDPMEDFDSLECMEGSDALALRLACIGDEMDVSLRAPRLAQLSEVAMHSLGLAFIYDQTEDIRDVLRSFMDGFTTLKENIMRFWRSPNPGSWVSCEQVLLALLLLLALLLPLLSGGLHLLLK

opentargets:
endomembrane system [GO:0012505]; integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; apoptotic mitochondrial changes [GO:0008637]; apoptotic process [GO:0006915]; male gonad development [GO:0008584]; positive regulation of protein homooligomerization [GO:0032464]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]

location:
SUBCELLULAR LOCATION: Endomembrane system; Single-pass membrane protein. Mitochondrion membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=Around the nuclear envelope, and in cytoplasmic membranes.


uniprotID: O00499
geneSymbol: BIN1
reactome: R-HSA-8856828;
pdb: 1MUZ;1MV0;1MV3;2FIC;2RMY;2RND;5I22;
length: 593
go: ENSG00000136717;
snps: rs121909273 rs121909274
location: SUBCELLULAR LOCATION: Isoform BIN1: Nucleus.; SUBCELLULAR LOCATION: Isoform IIA: Cytoplasm.
name:
Myc box-dependent-interacting protein 1 (Amphiphysin II) (Amphiphysin-like protein) (Box-dependent myc-interacting protein 1) (Bridging integrator 1)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; axon [GO:0030424]; axon initial segment [GO:0043194]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; I band [GO:0031674]; lipid tube [GO:0060987]; membrane [GO:0016020]; node of Ranvier [GO:0033268]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; synaptic vesicle [GO:0008021]; T-tubule [GO:0030315]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; chaperone binding [GO:0051087]; clathrin binding [GO:0030276]; identical protein binding [GO:0042802]; phospholipid binding [GO:0005543]; protease binding [GO:0002020]; RNA polymerase binding [GO:0070063]; tau protein binding [GO:0048156]; cell proliferation [GO:0008283]; cytoskeleton organization [GO:0007010]; endocytosis [GO:0006897]; endosome to lysosome transport [GO:0008333]; lipid tube assembly [GO:0060988]; membrane organization [GO:0061024]; negative regulation of amyloid-beta formation [GO:1902430]; negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process [GO:1902960]; negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel [GO:1904878]; negative regulation of potassium ion transmembrane transport [GO:1901380]; negative regulation of ventricular cardiac muscle cell action potential [GO:1903946]; nucleus localization [GO:0051647]; nucleus organization [GO:0006997]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of apoptotic process [GO:0043065]; positive regulation of astrocyte differentiation [GO:0048711]; regulation of cell cycle arrest [GO:0071156]; regulation of endocytosis [GO:0030100]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of neuron differentiation [GO:0045664]; T-tubule organization [GO:0033292]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist.; Name=IIA; IsoId=O00499-1; Sequence=Displayed; Name=IIB; IsoId=O00499-2; Sequence=VSP_000246, VSP_000252; Name=IIC1; IsoId=O00499-3; Sequence=VSP_000249; Name=IIC2; IsoId=O00499-4; Sequence=VSP_000246, VSP_000249; Name=IID; IsoId=O00499-5; Sequence=VSP_000248; Name=II2; IsoId=O00499-6; Sequence=VSP_000246, VSP_000253; Name=II3; IsoId=O00499-7; Sequence=VSP_000246, VSP_000250; Name=BIN1; IsoId=O00499-8; Sequence=VSP_000246, VSP_000247, VSP_000250; Name=BIN1-10-13; IsoId=O00499-9; Sequence=VSP_000246, VSP_000251; Name=BIN1-13; IsoId=O00499-10; Sequence=VSP_000246, VSP_000247, VSP_000251; Name=BIN1+12A; IsoId=O00499-11; Sequence=VSP_000246, VSP_000247, VSP_000253; 


uniprotID: O15516
geneSymbol: CLOCK
reactome: R-HSA-1368108;R-HSA-1989781;R-HSA-3214847;R-HSA-400253;
pdb: 4H10;
length: 846
go: ENSG00000134852;
snps: rs34897046 rs1056478 rs6855837 rs3762836
name:
Circadian locomoter output cycles protein kaput (hCLOCK) (EC 2.3.1.48) (Class E basic helix-loop-helix protein 8) (bHLHe8)

sequence:

opentargets:
chromatoid body [GO:0033391]; chromosome [GO:0005694]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; histone acetyltransferase activity [GO:0004402]; protein dimerization activity [GO:0046983]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; cellular response to ionizing radiation [GO:0071479]; circadian regulation of gene expression [GO:0032922]; circadian rhythm [GO:0007623]; DNA damage checkpoint [GO:0000077]; negative regulation of glucocorticoid receptor signaling pathway [GO:2000323]; negative regulation of transcription, DNA-templated [GO:0045892]; photoperiodism [GO:0009648]; positive regulation of inflammatory response [GO:0050729]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein acetylation [GO:0006473]; regulation of hair cycle [GO:0042634]; regulation of insulin secretion [GO:0050796]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; regulation of type B pancreatic cell development [GO:2000074]; response to redox state [GO:0051775]; signal transduction [GO:0007165]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:23160374, ECO:0000269|PubMed:28985504}. Cytoplasm {ECO:0000250|UniProtKB:O08785}. Cytoplasm, cytosol {ECO:0000269|PubMed:28985504}. Note=Shuffling between the cytoplasm and the nucleus is under circadian regulation and is ARNTL/BMAL1-dependent. Phosphorylated form located in the nucleus while the nonphosphorylated form found only in the cytoplasm. Sequestered to the cytoplasm in the presence of ID2 (By similarity). Localizes to sites of DNA damage in a H2AX-independent manner. {ECO:0000250|UniProtKB:O08785, ECO:0000269|PubMed:21659603}.


uniprotID: O96005
geneSymbol: CLPTM1
name: Cleft lip and palate transmembrane protein 1
length: 669
go: ENSG00000104853;
snps: rs140564801
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; regulation of T cell differentiation in thymus [GO:0033081]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O96005-1; Sequence=Displayed; Name=2; IsoId=O96005-3; Sequence=VSP_055525; Note=No experimental confirmation available.; Name=3; IsoId=O96005-4; Sequence=VSP_055526; Note=No experimental confirmation available.; 


uniprotID: A0PK11
geneSymbol: CLRN2
name: Clarin-2
length: 232
go: ENSG00000249581;
opentargets: integral component of membrane [GO:0016021]
snps: rs13147559 rs2597791
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8NCR9
geneSymbol: CLRN3
name: Clarin-3 (Transmembrane protein 12) (Usher syndrome type-3A-like protein 1)
length: 226
go: ENSG00000180745;
opentargets: extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]
snps: rs35070529
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCR9-1; Sequence=Displayed; Name=2; IsoId=Q8NCR9-2; Sequence=VSP_022871, VSP_022872; Note=No experimental confirmation available.; 


uniprotID: Q9Y271
geneSymbol: CYSLTR1
reactome: R-HSA-391906;R-HSA-416476;
length: 337
go: ENSG00000173198;
drug: DB00587;DB00471;DB00716;DB01411;DB00549;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Cysteinyl leukotriene receptor 1 (CysLTR1) (Cysteinyl leukotriene D4 receptor) (LTD4 receptor) (G-protein coupled receptor HG55) (HMTMF81)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; galanin receptor activity [GO:0004966]; leukotriene receptor activity [GO:0004974]; calcium ion transport [GO:0006816]; cell surface receptor signaling pathway [GO:0007166]; chemotaxis [GO:0006935]; defense response [GO:0006952]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response to antigenic stimulus [GO:0002437]; neuropeptide signaling pathway [GO:0007218]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; respiratory gaseous exchange [GO:0007585]


uniprotID: Q96P09
geneSymbol: BIRC8
pdb: 1XB0;1XB1;
length: 236
go: ENSG00000163098;
snps: rs35880972 rs34092035 rs8109165 rs35700345 rs34683072
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Baculoviral IAP repeat-containing protein 8 (Inhibitor of apoptosis-like protein 2) (IAP-like protein 2) (ILP-2) (Testis-specific inhibitor of apoptosis)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; inhibition of cysteine-type endopeptidase activity involved in apoptotic process [GO:1990001]; positive regulation of canonical Wnt signaling pathway [GO:0090263]


uniprotID: Q96AJ1
geneSymbol: CLUAP1
reactome: R-HSA-5620924;
name: Clusterin-associated protein 1 (Qilin)
length: 413
go: ENSG00000103351;
snps: rs34115694 rs9790
sequence:

opentargets:
centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; intracellular membrane-bounded organelle [GO:0043231]; intraciliary transport particle B [GO:0030992]; nucleoplasm [GO:0005654]; intraciliary transport involved in cilium assembly [GO:0035735]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96AJ1-1; Sequence=Displayed; Name=2; IsoId=Q96AJ1-2; Sequence=VSP_019229; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:15530380}. Nucleus {ECO:0000269|PubMed:15480429}.


uniprotID: O43497
geneSymbol: CACNA1G
reactome: R-HSA-419037;
length: 2377
go: ENSG00000006283;
drug: DB00568;DB00593;DB04841;DB05246;DB01388;DB00421;DB00347;DB00661;DB00909;
snps: rs755221106
name:
Voltage-dependent T-type calcium channel subunit alpha-1G (Cav3.1c) (NBR13) (Voltage-gated calcium channel subunit alpha Cav3.1)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; low voltage-gated calcium channel activity [GO:0008332]; scaffold protein binding [GO:0097110]; voltage-gated calcium channel activity involved in AV node cell action potential [GO:0086056]; voltage-gated calcium channel activity involved SA node cell action potential [GO:0086059]; AV node cell action potential [GO:0086016]; AV node cell to bundle of His cell signaling [GO:0086027]; calcium ion import [GO:0070509]; calcium ion transmembrane transport [GO:0070588]; cardiac muscle cell action potential involved in contraction [GO:0086002]; chemical synaptic transmission [GO:0007268]; membrane depolarization during action potential [GO:0086010]; membrane depolarization during AV node cell action potential [GO:0086045]; membrane depolarization during SA node cell action potential [GO:0086046]; neuronal action potential [GO:0019228]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; regulation of atrial cardiac muscle cell membrane depolarization [GO:0060371]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]; response to nickel cation [GO:0010045]; SA node cell action potential [GO:0086015]; SA node cell to atrial cardiac muscle cell signaling [GO:0086018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=35;  Name=5; IsoId=O43497-1; Sequence=Displayed; Name=1; Synonyms=Variant 89; IsoId=O43497-2; Sequence=VSP_000940, VSP_000943, VSP_000946; Name=2; Synonyms=Variant 25; IsoId=O43497-3; Sequence=VSP_000940, VSP_000944, VSP_000946; Name=3; IsoId=O43497-4; Sequence=VSP_000940; Name=4; Synonyms=Variant 88; IsoId=O43497-5; Sequence=VSP_000940, VSP_000943, VSP_000946, VSP_000948; Name=6; Synonyms=Variant 217; IsoId=O43497-6; Sequence=VSP_000943, VSP_000946; Name=7; Synonyms=Variant 221; IsoId=O43497-7; Sequence=VSP_000943, VSP_000947; Name=8; Synonyms=Variant 93; IsoId=O43497-8; Sequence=VSP_000940, VSP_000943, VSP_000947; Name=9; Synonyms=Variant 57; IsoId=O43497-9; Sequence=VSP_000940, VSP_000946; Name=10; IsoId=O43497-10; Sequence=VSP_000940, VSP_000945; Name=11; Synonyms=Variant 185; IsoId=O43497-11; Sequence=VSP_000946; Name=12; Synonyms=Variant 189; IsoId=O43497-12; Sequence=VSP_000947; Name=13; Synonyms=Variant 153; IsoId=O43497-13; Sequence=VSP_000944, VSP_000946; Name=14; Synonyms=Variant 137; IsoId=O43497-15; Sequence=VSP_000944, VSP_047550, VSP_000946; Name=15; Synonyms=Variant 157; IsoId=O43497-16; Sequence=VSP_000944, VSP_000947; Name=16; Synonyms=Variant 169; IsoId=O43497-17; Sequence=VSP_047550, VSP_000946; Name=17; Synonyms=Variant 184; IsoId=O43497-18; Sequence=VSP_000946, VSP_000948; Name=18; Synonyms=Variant 216; IsoId=O43497-19; Sequence=VSP_000943, VSP_000946, VSP_000948; Name=19; Synonyms=Variant 223; IsoId=O43497-20; Sequence=VSP_000943; Name=20; Synonyms=Variant 249; IsoId=O43497-21; Sequence=VSP_047548, VSP_000946; Name=21; Synonyms=Variant 313; IsoId=O43497-22; Sequence=VSP_000940, VSP_047545, VSP_000946; Name=22; Synonyms=Variant 409; IsoId=O43497-23; Sequence=VSP_047545, VSP_000944, VSP_000946; Name=23; Synonyms=Variant 441; IsoId=O43497-24; Sequence=VSP_047545, VSP_000946; Name=24; Synonyms=Variant 477; IsoId=O43497-25; Sequence=VSP_047545, VSP_000943, VSP_000947; Name=25; Synonyms=Variant 473; IsoId=O43497-26; Sequence=VSP_047545, VSP_000943, VSP_000946; Name=26; Synonyms=Variant 17; IsoId=O43497-27; Sequence=VSP_000940, VSP_000944, VSP_047551, VSP_047553; Name=27; Synonyms=Variant 33; IsoId=O43497-28; Sequence=VSP_000940, VSP_047549, VSP_047552; Name=28; Synonyms=Variant 49; IsoId=O43497-29; Sequence=VSP_000940, VSP_047551, VSP_047553; Name=29; Synonyms=Variant 145; IsoId=O43497-30; Sequence=VSP_000944, VSP_047551, VSP_047553; Name=30; Synonyms=Variant 177; IsoId=O43497-31; Sequence=VSP_047551, VSP_047553; Name=31; Synonyms=Variant 209; IsoId=O43497-32; Sequence=VSP_000943, VSP_047551, VSP_047553; Name=32; IsoId=O43497-33; Sequence=VSP_000940, VSP_000943; Note=Gene prediction based on EST data.; Name=33; Synonyms=Variant 441-d81; IsoId=O43497-34; Sequence=VSP_047546, VSP_000946; Name=34; Synonyms=Variant 473-d75; IsoId=O43497-35; Sequence=VSP_047547, VSP_000943, VSP_000946; Name=35; Synonyms=Variant 473-d81; IsoId=O43497-36; Sequence=VSP_047546, VSP_000943, VSP_000946; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26715324}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:26715324}.


uniprotID: Q6P1W5
geneSymbol: C1orf94
name: Uncharacterized protein C1orf94
length: 598
go: ENSG00000142698;
snps: rs1382602 rs1414474 rs17556981
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P1W5-1; Sequence=Displayed; Name=2; IsoId=Q6P1W5-2; Sequence=VSP_042032; 


uniprotID: P55283
geneSymbol: CDH4
reactome: R-HSA-375170;R-HSA-418990;
name: Cadherin-4 (Retinal cadherin) (R-CAD) (R-cadherin)
length: 916
go: ENSG00000179242;
snps: rs34937312 rs6142884
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
catenin complex [GO:0016342]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; axon guidance [GO:0007411]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; positive regulation of axon extension [GO:0045773]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55283-1; Sequence=Displayed; Name=2; IsoId=P55283-2; Sequence=VSP_045548; Note=No experimental confirmation available.; 


uniprotID: P20807
geneSymbol: CAPN3
reactome: R-HSA-1474228;
pdb: 1Y9V;4OKH;6BDT;6BGP;6BJD;6BKJ;
length: 821
go: ENSG00000092529;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Calpain-3 (EC 3.4.22.54) (Calcium-activated neutral proteinase 3) (CANP 3) (Calpain L3) (Calpain p94) (Muscle-specific calcium-activated neutral protease 3) (New calpain 1) (nCL-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; myofibril [GO:0030016]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; T-tubule [GO:0030315]; Z disc [GO:0030018]; calcium ion binding [GO:0005509]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; catalytic activity [GO:0003824]; cysteine-type peptidase activity [GO:0008234]; ligase regulator activity [GO:0055103]; peptidase activity [GO:0008233]; protein-containing complex scaffold activity [GO:0032947]; sodium ion binding [GO:0031402]; structural constituent of muscle [GO:0008307]; titin binding [GO:0031432]; apoptotic process [GO:0006915]; calcium-dependent self proteolysis [GO:1990092]; cellular response to calcium ion [GO:0071277]; cellular response to salt stress [GO:0071472]; G1 to G0 transition involved in cell differentiation [GO:0070315]; muscle cell cellular homeostasis [GO:0046716]; muscle organ development [GO:0007517]; muscle structure development [GO:0061061]; myofibril assembly [GO:0030239]; negative regulation of apoptotic process [GO:0043066]; negative regulation of protein sumoylation [GO:0033234]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of proteolysis [GO:0045862]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of satellite cell activation involved in skeletal muscle regeneration [GO:0014718]; positive regulation of transcription, DNA-templated [GO:0045893]; protein catabolic process [GO:0030163]; protein destabilization [GO:0031648]; protein localization to membrane [GO:0072657]; protein-containing complex assembly [GO:0065003]; proteolysis [GO:0006508]; regulation of catalytic activity [GO:0050790]; regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043122]; regulation of myoblast differentiation [GO:0045661]; response to calcium ion [GO:0051592]; response to muscle activity [GO:0014850]; sarcomere organization [GO:0045214]; self proteolysis [GO:0097264]

snps:
rs140660066 rs28364364 rs762020512 rs121434546 rs1801505 rs17592 rs35889956 rs758795961 rs369784333 rs773001194 rs1345121557 rs1801449 rs121434547 rs267606703 rs777483913 rs777323132 rs773827877 rs776043976 rs776043976 rs863224956 rs201736037 rs147764579 rs863224957 rs121434548 rs141656719 rs557164942 rs761637940 rs148044781 rs398123143 rs727503839 rs121434544 rs863224959 rs199806879 rs11557723 rs886042557 rs750083132 rs587780290 rs80338802 rs149095128 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=I; IsoId=P20807-1; Sequence=Displayed; Name=II; IsoId=P20807-2; Sequence=VSP_005227, VSP_005228; Name=III; IsoId=P20807-3; Sequence=VSP_005229; Name=IV; IsoId=P20807-4; Sequence=VSP_007813; Name=V; IsoId=P20807-5; Sequence=VSP_044255; 


uniprotID: P12830
geneSymbol: CDH1
reactome: R-HSA-1474228;R-HSA-198933;R-HSA-216083;R-HSA-351906;R-HSA-418990;R-HSA-5626467;R-HSA-8876493;
pdb: 1O6S;2O72;2OMT;2OMU;2OMV;2OMX;2OMY;2OMZ;3FF7;3FF8;3L6X;3L6Y;4ZT1;4ZTE;
length: 882
go: ENSG00000039068;
name:
Cadherin-1 (CAM 120/80) (Epithelial cadherin) (E-cadherin) (Uvomorulin) (CD antigen CD324) [Cleaved into: E-Cad/CTF1; E-Cad/CTF2; E-Cad/CTF3]

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; apical junction complex [GO:0043296]; catenin complex [GO:0016342]; cell junction [GO:0030054]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; flotillin complex [GO:0016600]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; lamellipodium [GO:0030027]; lateral plasma membrane [GO:0016328]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; trans-Golgi network [GO:0005802]; ankyrin binding [GO:0030506]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cell adhesion molecule binding [GO:0050839]; cytoskeletal protein binding [GO:0008092]; gamma-catenin binding [GO:0045295]; GTPase activating protein binding [GO:0032794]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; cellular response to indole-3-methanol [GO:0071681]; cellular response to lithium ion [GO:0071285]; entry of bacterium into host cell [GO:0035635]; extracellular matrix organization [GO:0030198]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; negative regulation of cell migration [GO:0030336]; negative regulation of cell-cell adhesion [GO:0022408]; neuron projection development [GO:0031175]; pituitary gland development [GO:0021983]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of transcription, DNA-templated [GO:0045893]; protein localization to plasma membrane [GO:0072659]; regulation of protein catabolic process at postsynapse, modulating synaptic transmission [GO:0099576]; response to toxic substance [GO:0009636]; synapse assembly [GO:0007416]

snps:
rs35606263 rs1064794231 rs587776399 rs200932258 rs267606712 rs116093741 rs34466743 rs370864592 rs36087757 rs35520415 rs35187787 rs780759537 rs33935154 rs2276331 rs121964878 rs9282655 rs121964871 rs372989292 rs35572355 rs121964872 rs34507583 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P12830-1; Sequence=Displayed; Name=2; IsoId=P12830-2; Sequence=VSP_055586; 

location:
SUBCELLULAR LOCATION: Cell junction {ECO:0000269|PubMed:28169360}. Cell membrane {ECO:0000269|PubMed:28301459}; Single-pass type I membrane protein. Endosome. Golgi apparatus, trans-Golgi network. Note=Colocalizes with DLGAP5 at sites of cell-cell contact in intestinal epithelial cells. Anchored to actin microfilaments through association with alpha-, beta- and gamma-catenin. Sequential proteolysis induced by apoptosis or calcium influx, results in translocation from sites of cell-cell contact to the cytoplasm. Colocalizes with RAB11A endosomes during its transport from the Golgi apparatus to the plasma membrane.


uniprotID: Q13936
geneSymbol: CACNA1C
reactome: R-HSA-400042;R-HSA-419037;R-HSA-422356;R-HSA-5576892;R-HSA-5576893;
pdb: 1T0J;2BE6;2F3Y;2F3Z;2LQC;3G43;3OXQ;5V2P;5V2Q;
length: 2221
go: ENSG00000151067;
snps: rs1051345 rs1051356 rs10848683 rs10774053 rs10774054
name:
Voltage-dependent L-type calcium channel subunit alpha-1C (Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle) (Voltage-gated calcium channel subunit alpha Cav1.2)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; L-type voltage-gated calcium channel complex [GO:1990454]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; voltage-gated calcium channel complex [GO:0005891]; Z disc [GO:0030018]; alpha-actinin binding [GO:0051393]; calmodulin binding [GO:0005516]; high voltage-gated calcium channel activity [GO:0008331]; metal ion binding [GO:0046872]; voltage-gated calcium channel activity [GO:0005245]; voltage-gated calcium channel activity involved in AV node cell action potential [GO:0086056]; voltage-gated calcium channel activity involved in cardiac muscle cell action potential [GO:0086007]; calcium ion import [GO:0070509]; calcium ion transmembrane transport [GO:0070588]; calcium ion transmembrane transport via high voltage-gated calcium channel [GO:0061577]; calcium ion transport [GO:0006816]; calcium ion transport into cytosol [GO:0060402]; calcium-mediated signaling using extracellular calcium source [GO:0035585]; camera-type eye development [GO:0043010]; cardiac conduction [GO:0061337]; cardiac muscle cell action potential involved in contraction [GO:0086002]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; embryonic forelimb morphogenesis [GO:0035115]; heart development [GO:0007507]; immune system development [GO:0002520]; membrane depolarization during atrial cardiac muscle cell action potential [GO:0098912]; membrane depolarization during AV node cell action potential [GO:0086045]; membrane depolarization during cardiac muscle cell action potential [GO:0086012]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of insulin secretion [GO:0050796]; regulation of ventricular cardiac muscle cell action potential [GO:0098911]

drug:
DB00381;DB01373;DB00568;DB04920;DB04855;DB06751;DB00898;DB01023;DB00308;DB00270;DB00653;DB01388;DB00622;DB01115;DB06712;DB00393;DB00401;DB01054;DB00421;DB00661;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=37;  Comment=Additional isoforms seem to exist. Exons 8A, 21, 22, 31, 32, 33, 40B, 43A, 41A and 45 are alternatively spliced in a variety of combinations. Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=HFCC, Fibroblast; IsoId=Q13936-1; Sequence=Displayed; Name=2; IsoId=Q13936-2; Sequence=VSP_000894; Name=3; IsoId=Q13936-3; Sequence=VSP_000886; Note=Contains exon 8a.; Name=4; IsoId=Q13936-4; Sequence=VSP_000887; Note=Lacks exon 21.; Name=5; IsoId=Q13936-5; Sequence=VSP_000888; Note=Lacks exon 22.; Name=6; IsoId=Q13936-6; Sequence=VSP_000889; Note=Lacks exon 31.; Name=7; IsoId=Q13936-7; Sequence=VSP_000890; Note=Lacks exon 32.; Name=8; IsoId=Q13936-8; Sequence=VSP_000891; Note=Lacks exon 33.; Name=9; IsoId=Q13936-9; Sequence=VSP_000892; Note=Contains exon 40B and 43A.; Name=10; IsoId=Q13936-10; Sequence=VSP_000893; Note=Contains exon 41A.; Name=11; Synonyms=Alpha-1C.90; IsoId=Q13936-11; Sequence=VSP_000895; Note=Lacks exon 45.; Name=12; Synonyms=Alpha-1C.70; IsoId=Q13936-12; Sequence=VSP_000888, VSP_000889, VSP_000895; Name=13; Synonyms=Alpha-1C.127; IsoId=Q13936-13; Sequence=VSP_000888, VSP_000890, VSP_000893, VSP_000895; Name=14; Synonyms=Alpha-1C.126; IsoId=Q13936-14; Sequence=VSP_000888, VSP_000889, VSP_022504, VSP_000893, VSP_000895; Name=15; Synonyms=Alpha-1C.125; IsoId=Q13936-15; Sequence=VSP_000888, VSP_000889, VSP_022503, VSP_000893, VSP_000895; Name=16; IsoId=Q13936-16; Sequence=VSP_000885, VSP_000886, VSP_000888, VSP_000890; Name=17; IsoId=Q13936-17; Sequence=VSP_000885, VSP_000886, VSP_000888, VSP_000890, VSP_000895; Name=18; Synonyms=HHT-1; IsoId=Q13936-18; Sequence=VSP_000885, VSP_000886, VSP_000888, VSP_000890, VSP_000894; Name=19; Synonyms=Alpha-1C.76; IsoId=Q13936-19; Sequence=VSP_000887, VSP_000889, VSP_000891, VSP_000895; Name=20; Synonyms=Alpha-1C.77; IsoId=Q13936-20; Sequence=VSP_000887, VSP_000889, VSP_000895; Note=Predominant isoform in atherosclerotic vascular smooth muscle cells.; Name=21; Synonyms=Alpha-1C.69; IsoId=Q13936-21; Sequence=VSP_000887, VSP_000890, VSP_000895; Name=22; Synonyms=Alpha-1C.78; IsoId=Q13936-22; Sequence=VSP_000888, VSP_000890, VSP_000895; Name=23; Synonyms=Alpha-1C.105; IsoId=Q13936-23; Sequence=VSP_000886, VSP_000887, VSP_000889, VSP_000895; Name=24; Synonyms=Alpha-1C.71; IsoId=Q13936-24; Sequence=VSP_000888, VSP_000889, VSP_000893, VSP_000895; Name=25; Synonyms=Alpha-1C.73; IsoId=Q13936-25; Sequence=VSP_000888, VSP_000889, VSP_000891, VSP_000893, VSP_000895; Name=26; Synonyms=Alpha-1C.86; IsoId=Q13936-26; Sequence=VSP_000887, VSP_000889, VSP_000892, VSP_000895; Note=Not inhibited by calcium.; Name=27; Synonyms=Alpha-1C.72; IsoId=Q13936-27; Sequence=VSP_000887, VSP_000889, VSP_000893, VSP_000895; Name=28; IsoId=Q13936-28; Sequence=VSP_000885, VSP_000886, VSP_000888, VSP_000889, VSP_000891, VSP_000894; Name=29; Synonyms=Alpha-1C.74; IsoId=Q13936-29; Sequence=VSP_000887, VSP_000889, VSP_000891, VSP_000893, VSP_000895; Name=30; Synonyms=Alpha-1C.87; IsoId=Q13936-30; Sequence=VSP_000889, VSP_000895; Name=31; Synonyms=Alpha-1C.88; IsoId=Q13936-31; Sequence=VSP_000888, VSP_000895; Name=32; Synonyms=Alpha-1C.89; IsoId=Q13936-32; Sequence=VSP_000887, VSP_000891, VSP_000895; Name=33; Synonyms=Alpha-1C.85; IsoId=Q13936-33; Sequence=VSP_000887, VSP_000889; Name=34; Synonyms=Alpha-1C,long-NT; IsoId=Q13936-34; Sequence=VSP_035146; Note=Enhanced by PKC activator.; Name=35; IsoId=Q13936-35; Sequence=VSP_035877, VSP_000888, VSP_000890, VSP_000895; Name=36; IsoId=Q13936-36; Sequence=VSP_000886, VSP_000888, VSP_000890; Note=Gene prediction based on EST data.; Name=37; IsoId=Q13936-37; Sequence=VSP_000886, VSP_000888, VSP_000890, VSP_000895; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11741969, ECO:0000269|PubMed:12176756, ECO:0000269|PubMed:12181424, ECO:0000269|PubMed:15454078, ECO:0000269|PubMed:15863612, ECO:0000269|PubMed:16299511, ECO:0000269|PubMed:17071743, ECO:0000269|PubMed:17224476, ECO:0000269|PubMed:20953164, ECO:0000269|PubMed:24728418, ECO:0000269|PubMed:26253506, ECO:0000269|PubMed:27218670, ECO:0000269|PubMed:29078335, ECO:0000269|PubMed:29742403, ECO:0000269|PubMed:7737988, ECO:0000269|PubMed:8099908, ECO:0000269|PubMed:8392192, ECO:0000269|PubMed:9013606, ECO:0000269|PubMed:9087614, ECO:0000269|PubMed:9607315}; Multi-pass membrane protein {ECO:0000305}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P15381}; Multi-pass membrane protein {ECO:0000305}. Perikaryon {ECO:0000250|UniProtKB:P22002}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:P22002}. Cell projection, dendrite {ECO:0000250|UniProtKB:P22002}. Note=Colocalizes with ryanodine receptors in distinct clusters at the junctional membrane, where the sarcolemma and the sarcoplasmic reticulum are in close contact. The interaction between RRAD and CACNB2 promotes the expression of CACNA1C at the cell membrane. {ECO:0000250|UniProtKB:P15381}.


uniprotID: P07384
geneSymbol: CAPN1
reactome: R-HSA-1474228;R-HSA-6798695;R-HSA-6809371;R-HSA-8862803;
pdb: 1ZCM;2ARY;
length: 714
go: ENSG00000014216;
drug: DB07627;DB04653;DB04276;
snps: rs17885718 rs756205995 rs10895991 rs17883283 rs17884773
name:
Calpain-1 catalytic subunit (EC 3.4.22.52) (Calcium-activated neutral proteinase 1) (CANP 1) (Calpain mu-type) (Calpain-1 large subunit) (Cell proliferation-inducing gene 30 protein) (Micromolar-calpain) (muCANP)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; focal adhesion [GO:0005925]; lysosome [GO:0005764]; membrane [GO:0016020]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; endopeptidase activity [GO:0004175]; cornification [GO:0070268]; mammary gland involution [GO:0060056]; neutrophil degranulation [GO:0043312]; positive regulation of cell proliferation [GO:0008284]; proteolysis [GO:0006508]; receptor catabolic process [GO:0032801]; regulation of catalytic activity [GO:0050790]; regulation of macroautophagy [GO:0016241]; regulation of NMDA receptor activity [GO:2000310]; self proteolysis [GO:0097264]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21531719, ECO:0000269|PubMed:8769305}. Cell membrane {ECO:0000269|PubMed:8769305}. Note=Translocates to the plasma membrane upon Ca(2+) binding. In granular keratinocytes and in lower corneocytes, colocalizes with FLG and FLG2 (PubMed:21531719). {ECO:0000269|PubMed:21531719}.


uniprotID: O43852
geneSymbol: CALU
reactome: R-HSA-114608;R-HSA-381426;R-HSA-8957275;
name: Calumenin (Crocalbin) (IEF SSP 9302)
length: 315
go: ENSG00000128595;
snps: rs2290228
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; melanosome [GO:0042470]; membrane [GO:0016020]; sarcoplasmic reticulum lumen [GO:0033018]; calcium ion binding [GO:0005509]; cellular protein metabolic process [GO:0044267]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=15;  Name=1; IsoId=O43852-1; Sequence=Displayed; Name=2; Synonyms=Crocalbin; IsoId=O43852-2; Sequence=VSP_007317; Name=3; IsoId=O43852-3; Sequence=VSP_043570; Name=4; IsoId=O43852-4; Sequence=VSP_043570, VSP_007317; Name=5; IsoId=O43852-5; Sequence=VSP_045946; Name=6; IsoId=O43852-6; Sequence=VSP_045951; Name=7; IsoId=O43852-7; Sequence=VSP_007317, VSP_045944, VSP_045945; Name=8; IsoId=O43852-8; Sequence=VSP_007317, VSP_045949; Name=9; IsoId=O43852-9; Sequence=VSP_045941; Name=10; IsoId=O43852-10; Sequence=VSP_045950; Name=11; IsoId=O43852-11; Sequence=VSP_045947, VSP_045948; Name=12; IsoId=O43852-12; Sequence=VSP_045940; Name=13; IsoId=O43852-13; Sequence=VSP_045942, VSP_045943; Name=14; IsoId=O43852-14; Sequence=VSP_043570, VSP_045942, VSP_045943; Name=15; IsoId=O43852-15; Sequence=VSP_045939; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10222138}. Golgi apparatus {ECO:0000269|PubMed:10222138}. Secreted {ECO:0000305}. Melanosome {ECO:0000269|PubMed:12643545}. Sarcoplasmic reticulum lumen {ECO:0000305}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:12643545}.


uniprotID: A6NF36
geneSymbol: CCDC182
name: Coiled-coil domain-containing protein 182
length: 153
go: ENSG00000166329;
opentargets: female gonad development [GO:0008585]
sequence:
MEPLYQAGSILMTVNTLQGKKMIESGLQSGDFSLSQSWPSCLPPPADLEILQQKVAGVQRELEDFKKEALKSIHYLEDAFCEMNGALVQQEEQAARVRQRLREEEDRGIVRNKVLTFLLPREKQLREHCKRLEDLLLDRGRDALRATKKSQAD


uniprotID: O43866
geneSymbol: CD5L
length: 347
go: ENSG00000073754;
snps: rs11537583
name:
CD5 antigen-like (Apoptosis inhibitor expressed by macrophages) (hAIM) (CT-2) (IgM-associated peptide) (SP-alpha)

sequence:

opentargets:
blood microparticle [GO:0072562]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; scavenger receptor activity [GO:0005044]; apoptotic process [GO:0006915]; cellular defense response [GO:0006968]; immune system process [GO:0002376]; inflammatory response [GO:0006954]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:24223991, ECO:0000269|PubMed:24804991}. Cytoplasm {ECO:0000250|UniProtKB:Q9QWK4}. Note=Secreted by macrophages and circulates in the blood (PubMed:24223991, PubMed:24804991). Transported in the cytoplasm via CD36-mediated endocytosis (By similarity). {ECO:0000250|UniProtKB:Q9QWK4, ECO:0000269|PubMed:24223991, ECO:0000269|PubMed:24804991}.


uniprotID: P29016
geneSymbol: CD1B
reactome: R-HSA-198933;
pdb: 1GZP;1GZQ;1UQS;2H26;3OV6;3T8X;4ONO;5C9J;5L2J;5L2K;5WKE;5WKG;5WKI;5WL1;
name: T-cell surface glycoprotein CD1b (CD antigen CD1b)
length: 333
go: ENSG00000158485;
sequence:

opentargets:
cell surface [GO:0009986]; endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; endogenous lipid antigen binding [GO:0030883]; exogenous lipid antigen binding [GO:0030884]; lipopeptide binding [GO:0071723]; adaptive immune response [GO:0002250]; antigen processing and presentation, endogenous lipid antigen via MHC class Ib [GO:0048006]; antigen processing and presentation, exogenous lipid antigen via MHC class Ib [GO:0048007]; immune response [GO:0006955]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P29016-1; Sequence=Displayed; Name=2; IsoId=P29016-2; Sequence=VSP_016911; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10899914, ECO:0000269|PubMed:10981968, ECO:0000269|PubMed:14716313}; Single-pass type I membrane protein {ECO:0000255}. Endosome membrane {ECO:0000269|PubMed:10899914, ECO:0000269|PubMed:14716313}; Single-pass type I membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:10899914, ECO:0000269|PubMed:10981968, ECO:0000269|PubMed:14716313}; Single-pass type I membrane protein {ECO:0000255}. Note=Subject to intracellular trafficking between the cell membrane, endosomes and lysosomes. {ECO:0000269|PubMed:10899914, ECO:0000269|PubMed:10981968, ECO:0000269|PubMed:14716313}.


uniprotID: A8MXV6
geneSymbol: CDRT15L2
name: CMT1A duplicated region transcript 15 protein-like protein
length: 281
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P32320
geneSymbol: CDA
reactome: R-HSA-6798695;R-HSA-73614;
pdb: 1MQ0;
name: Cytidine deaminase (EC 3.5.4.5) (Cytidine aminohydrolase)
length: 146
go: ENSG00000158825;
drug: DB00928;DB01101;DB00987;DB05314;DB00441;
snps: rs2072671
sequence:
MAQKRPACTLKPECVQQLLVCSQEAKKSAYCPYSHFPVGAALLTQEGRIFKGCNIENACYPLGICAERTAIQKAVSEGYKDFRAIAIASDMQDDFISPCGACRQVMREFGTNWPVYMTKPDGTYIVMTVQELLPSSFGPEDLQKTQ

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; secretory granule lumen [GO:0034774]; tertiary granule lumen [GO:1904724]; cytidine deaminase activity [GO:0004126]; nucleoside binding [GO:0001882]; protein homodimerization activity [GO:0042803]; zinc ion binding [GO:0008270]; cell surface receptor signaling pathway [GO:0007166]; cytidine deamination [GO:0009972]; cytosine metabolic process [GO:0019858]; negative regulation of cell growth [GO:0030308]; negative regulation of nucleotide metabolic process [GO:0045980]; neutrophil degranulation [GO:0043312]; protein homotetramerization [GO:0051289]; pyrimidine nucleoside salvage [GO:0043097]; pyrimidine-containing compound salvage [GO:0008655]


uniprotID: P29965
geneSymbol: CD40LG
reactome: R-HSA-198933;R-HSA-5668541;R-HSA-5676594;
pdb: 1ALY;1I9R;3LKJ;3QD6;
length: 261
go: ENSG00000102245;
name:
CD40 ligand (CD40-L) (T-cell antigen Gp39) (TNF-related activation protein) (TRAP) (Tumor necrosis factor ligand superfamily member 5) (CD antigen CD154) [Cleaved into: CD40 ligand, membrane form; CD40 ligand, soluble form]

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; CD40 receptor binding [GO:0005174]; cytokine activity [GO:0005125]; tumor necrosis factor receptor binding [GO:0005164]; activation of JUN kinase activity [GO:0007257]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; immunoglobulin secretion [GO:0048305]; inflammatory response [GO:0006954]; isotype switching [GO:0045190]; leukocyte cell-cell adhesion [GO:0007159]; negative regulation of apoptotic process [GO:0043066]; platelet activation [GO:0030168]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of T cell proliferation [GO:0042102]; regulation of immune response [GO:0050776]; regulation of immunoglobulin secretion [GO:0051023]; T cell costimulation [GO:0031295]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

snps:
rs104894774 rs104894778 rs104894777 rs886039326 rs1057521127 rs104894769 rs756468554 rs148594123 rs104894768 rs104894771 rs193922136 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8626375}; Single-pass type II membrane protein {ECO:0000303|PubMed:8626375}. Cell surface {ECO:0000269|PubMed:15067037, ECO:0000269|PubMed:7678552}.; SUBCELLULAR LOCATION: CD40 ligand, soluble form: Secreted {ECO:0000269|PubMed:8626375}.


uniprotID: P25063
geneSymbol: CD24
reactome: R-HSA-373760;
name: Signal transducer CD24 (Small cell lung carcinoma cluster 4 antigen) (CD antigen CD24)
sequence: MGRAMVARLGLGLLLLALLLPTQIYSSETTTGTSSNSSQSTSNSGLAPNPTNATTKAAGGALQSTASLFVVSLSLLHLYS
length: 80
go: ENSG00000272398;
snps: rs878859113
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
opentargets:
anchored component of external side of plasma membrane [GO:0031362]; cell surface [GO:0009986]; intracellular [GO:0005622]; membrane [GO:0016020]; membrane raft [GO:0045121]; protein kinase binding [GO:0019901]; protein tyrosine kinase activator activity [GO:0030296]; B cell receptor transport into membrane raft [GO:0032597]; cell activation [GO:0001775]; cell migration [GO:0016477]; cell-cell adhesion [GO:0098609]; chemokine receptor transport out of membrane raft [GO:0032600]; cholesterol homeostasis [GO:0042632]; glomerular parietal epithelial cell differentiation [GO:0072139]; glomerular visceral epithelial cell differentiation [GO:0072112]; immune response-regulating cell surface receptor signaling pathway [GO:0002768]; intrinsic apoptotic signaling pathway [GO:0097193]; negative regulation of transforming growth factor beta3 production [GO:0032913]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of nephron tubule epithelial cell differentiation [GO:2000768]; regulation of cytokine-mediated signaling pathway [GO:0001959]; regulation of epithelial cell differentiation [GO:0030856]; regulation of MAPK cascade [GO:0043408]; regulation of phosphorylation [GO:0042325]; respiratory burst [GO:0045730]; response to estrogen [GO:0043627]; response to hypoxia [GO:0001666]; response to molecule of bacterial origin [GO:0002237]; T cell costimulation [GO:0031295]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P25063-1; Sequence=Displayed; Name=2; IsoId=P25063-2; Sequence=VSP_059359; Note=No experimental confirmation available. Derived from EST data.; 


uniprotID: Q9UJX2
geneSymbol: CDC23
pdb: 4UI9;5A31;5G04;5G05;5KHR;5KHU;5L9T;5L9U;5LCW;
length: 597
go: ENSG00000094880;
snps: rs2231471 rs17228304
name:
Cell division cycle protein 23 homolog (Anaphase-promoting complex subunit 8) (APC8) (Cyclosome subunit 8)

sequence:

opentargets:
anaphase-promoting complex [GO:0005680]; cytosol [GO:0005829]; intracellular [GO:0005622]; nucleoplasm [GO:0005654]; ubiquitin-protein transferase activity [GO:0004842]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell division [GO:0051301]; metaphase/anaphase transition of mitotic cell cycle [GO:0007091]; mitotic cell cycle [GO:0000278]; mitotic metaphase plate congression [GO:0007080]; protein K11-linked ubiquitination [GO:0070979]; regulation of exit from mitosis [GO:0007096]; regulation of mitotic metaphase/anaphase transition [GO:0030071]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UJX2-1; Sequence=Displayed; Name=2; IsoId=Q9UJX2-2; Sequence=VSP_008429, VSP_008430; Note=No experimental confirmation available.; Name=3; IsoId=Q9UJX2-3; Sequence=VSP_037678; Note=No experimental confirmation available.; 


uniprotID: Q99459
geneSymbol: CDC5L
reactome: R-HSA-72163;
pdb: 2DIM;2DIN;5MQF;5XJC;5YZG;5Z56;5Z57;5Z58;6FF4;
name: Cell division cycle 5-like protein (Cdc5-like protein) (Pombe cdc5-related protein)
length: 802
go: ENSG00000096401;
snps: rs11572006
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-DNA complex [GO:0032993]; Prp19 complex [GO:0000974]; U2-type catalytic step 2 spliceosome [GO:0071007]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; leucine zipper domain binding [GO:0043522]; protein kinase binding [GO:0019901]; protein phosphatase 1 binding [GO:0008157]; RNA binding [GO:0003723]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription corepressor binding [GO:0001222]; WD40-repeat domain binding [GO:0071987]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to interleukin-2 [GO:0071352]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to prolactin [GO:1990646]; cellular response to wortmannin [GO:1904568]; DNA repair [GO:0006281]; mitotic cell cycle [GO:0000278]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of transcription by RNA polymerase II [GO:0045944]; signal transduction involved in DNA damage checkpoint [GO:0072422]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10570151, ECO:0000269|PubMed:11544257, ECO:0000269|PubMed:18583928, ECO:0000269|PubMed:9038199, ECO:0000269|PubMed:9598309}. Nucleus speckle {ECO:0000269|PubMed:10570151, ECO:0000269|PubMed:10827081, ECO:0000269|PubMed:11544257}. Cytoplasm {ECO:0000269|PubMed:9038199}. Note=May shuttle between cytoplasm and nucleus. {ECO:0000269|PubMed:9038199}.


uniprotID: Q7L3B6
geneSymbol: CDC37L1
reactome: R-HSA-114608;
name: Hsp90 co-chaperone Cdc37-like 1 (Hsp90-associating relative of Cdc37)
length: 337
go: ENSG00000106993;
snps: rs7036014
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11413142}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; platelet dense granule lumen [GO:0031089]; chaperone binding [GO:0051087]; heat shock protein binding [GO:0031072]; unfolded protein binding [GO:0051082]; platelet degranulation [GO:0002576]; protein folding [GO:0006457]; protein stabilization [GO:0050821]


uniprotID: P51589
geneSymbol: CYP2J2
reactome: R-HSA-211935;R-HSA-211981;R-HSA-2142670;
name: Cytochrome P450 2J2 (EC 1.14.14.1) (Arachidonic acid epoxygenase) (CYPIIJ2)
length: 502
go: ENSG00000134716;
drug: DB06605;DB00637;DB00169;DB09148;DB08918;DB04725;DB00179;DB08931;DB06228;DB00342;
snps: rs11572190 rs11572242 rs2228113 rs55753213 rs56307989 rs66515830 rs56053398 rs72547598
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; arachidonic acid 11,12-epoxygenase activity [GO:0008405]; arachidonic acid 14,15-epoxygenase activity [GO:0008404]; arachidonic acid epoxygenase activity [GO:0008392]; aromatase activity [GO:0070330]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; linoleic acid epoxygenase activity [GO:0071614]; monooxygenase activity [GO:0004497]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; steroid hydroxylase activity [GO:0008395]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; icosanoid metabolic process [GO:0006690]; linoleic acid metabolic process [GO:0043651]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; regulation of heart contraction [GO:0008016]; xenobiotic metabolic process [GO:0006805]


uniprotID: Q6VVX0
geneSymbol: CYP2R1
reactome: R-HSA-196791;R-HSA-211916;R-HSA-5579027;
pdb: 3C6G;3CZH;3DL9;
name: Vitamin D 25-hydroxylase (EC 1.14.14.24) (Cytochrome P450 2R1)
length: 501
go: ENSG00000186104;
drug: DB00169;DB00153;
snps: rs61495246
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; steroid hydroxylase activity [GO:0008395]; vitamin D3 25-hydroxylase activity [GO:0030343]; exogenous drug catabolic process [GO:0042738]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; response to cesium ion [GO:0010164]; response to ionizing radiation [GO:0010212]; vitamin D metabolic process [GO:0042359]; vitamin metabolic process [GO:0006766]; xenobiotic metabolic process [GO:0006805]


uniprotID: Q96SQ9
geneSymbol: CYP2S1
reactome: R-HSA-211958;R-HSA-211981;R-HSA-211999;
name: Cytochrome P450 2S1 (EC 1.14.14.1) (CYPIIS1)
length: 504
go: ENSG00000167600;
snps: rs34971233
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; arachidonic acid epoxygenase activity [GO:0008392]; aromatase activity [GO:0070330]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; retinoic acid 4-hydroxylase activity [GO:0008401]; steroid hydroxylase activity [GO:0008395]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96SQ9-1; Sequence=Displayed; Name=2; IsoId=Q96SQ9-2; Sequence=VSP_010531; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11181079}; Peripheral membrane protein {ECO:0000269|PubMed:11181079}. Microsome membrane {ECO:0000269|PubMed:11181079}; Peripheral membrane protein {ECO:0000269|PubMed:11181079}.


uniprotID: Q7Z449
geneSymbol: CYP2U1
reactome: R-HSA-211958;R-HSA-2142816;R-HSA-5579011;
name: Cytochrome P450 2U1 (EC 1.14.14.1)
length: 544
go: ENSG00000155016;
snps: rs397514515 rs397514513 rs397514514 rs141431913
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; aromatase activity [GO:0070330]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; steroid hydroxylase activity [GO:0008395]; exogenous drug catabolic process [GO:0042738]; omega-hydroxylase P450 pathway [GO:0097267]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z449-1; Sequence=Displayed; Name=2; IsoId=Q7Z449-2; Sequence=VSP_026222, VSP_026223; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14660610}; Multi-pass membrane protein {ECO:0000269|PubMed:14660610}. Microsome membrane {ECO:0000269|PubMed:14660610}.


uniprotID: Q8TAV3
geneSymbol: CYP2W1
reactome: R-HSA-211958;R-HSA-211981;
name: Cytochrome P450 2W1 (EC 1.14.14.-) (CYPIIW1)
length: 490
go: ENSG00000073067;
snps: rs3735684 rs78873069 rs773499447 rs3808348
sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; steroid hydroxylase activity [GO:0008395]; aflatoxin B1 metabolic process [GO:0043390]; exogenous drug catabolic process [GO:0042738]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; xenobiotic metabolic process [GO:0006805]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:20805301}. Cell membrane {ECO:0000269|PubMed:20805301}. Note=About 8% are expressed on the cell surface. {ECO:0000269|PubMed:20805301}.


uniprotID: Q9HB55
geneSymbol: CYP3A43
reactome: R-HSA-211958;R-HSA-211981;
name: Cytochrome P450 3A43 (EC 1.14.14.1)
length: 503
go: ENSG00000021461;
snps: rs45558032 rs45450092 rs45621431 rs680055
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; organelle membrane [GO:0031090]; aromatase activity [GO:0070330]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]

drug:
DB05239;DB09102;DB01234;DB08930;DB00593;DB09048;DB00842;DB00780;DB01058;DB01045;DB01201;DB00624;DB01361;DB00943;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9HB55-1; Sequence=Displayed; Name=2; IsoId=Q9HB55-2; Sequence=VSP_000609; Name=3; IsoId=Q9HB55-3; Sequence=VSP_000610, VSP_000611; Name=4; IsoId=Q9HB55-4; Sequence=VSP_000612, VSP_000613; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=7; IsoId=Q9HB55-6; Sequence=VSP_056736; 


uniprotID: Q9NYL5
geneSymbol: CYP39A1
reactome: R-HSA-193775;R-HSA-211976;
length: 469
go: ENSG00000146233;
snps: rs12192544 rs2277119 rs17856332 rs7761731
name:
24-hydroxycholesterol 7-alpha-hydroxylase (EC 1.14.14.26) (Cytochrome P450 39A1) (hCYP39A1) (Oxysterol 7-alpha-hydroxylase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxysterol 7-alpha-hydroxylase activity [GO:0008396]; steroid 7-alpha-hydroxylase activity [GO:0008387]; bile acid biosynthetic process [GO:0006699]; bile acid catabolic process [GO:0030573]; cholesterol catabolic process [GO:0006707]; cholesterol homeostasis [GO:0042632]; digestion [GO:0007586]; sterol metabolic process [GO:0016125]


uniprotID: P08684
geneSymbol: CYP3A4
reactome: R-HSA-211981;R-HSA-5423646;R-HSA-9027307;
length: 503
go: ENSG00000160868;
pdb:
1TQN;1W0E;1W0F;1W0G;2J0D;2V0M;3NXU;3TJS;3UA1;4D6Z;4D75;4D78;4D7D;4I3Q;4I4G;4I4H;4K9T;4K9U;4K9V;4K9W;4K9X;4NY4;5A1P;5A1R;5G5J;5TE8;5VC0;5VCC;5VCD;5VCE;5VCG;6BCZ;6BD5;6BD6;6BD7;6BD8;6BDH;6BDI;6BDK;6BDM;

name:
Cytochrome P450 3A4 (EC 1.14.14.-) (1,8-cineole 2-exo-monooxygenase) (EC 1.14.14.56) (Albendazole monooxygenase) (EC 1.14.14.-) (Albendazole sulfoxidase) (CYPIIIA3) (CYPIIIA4) (Cholesterol 25-hydroxylase) (EC 1.14.14.-) (Cytochrome P450 3A3) (Cytochrome P450 HLp) (Cytochrome P450 NF-25) (Cytochrome P450-PCN1) (Nifedipine oxidase) (Quinine 3-monooxygenase) (EC 1.14.14.55) (Taurochenodeoxycholate 6-alpha-hydroxylase) (EC 1.14.14.-)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; caffeine oxidase activity [GO:0034875]; enzyme binding [GO:0019899]; estrogen 16-alpha-hydroxylase activity [GO:0101020]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; oxygen binding [GO:0019825]; steroid binding [GO:0005496]; steroid hydroxylase activity [GO:0008395]; testosterone 6-beta-hydroxylase activity [GO:0050649]; vitamin D 24-hydroxylase activity [GO:0070576]; vitamin D3 25-hydroxylase activity [GO:0030343]; alkaloid catabolic process [GO:0009822]; androgen metabolic process [GO:0008209]; drug catabolic process [GO:0042737]; drug metabolic process [GO:0017144]; exogenous drug catabolic process [GO:0042738]; heterocycle metabolic process [GO:0046483]; lipid hydroxylation [GO:0002933]; lipid metabolic process [GO:0006629]; long-chain fatty acid biosynthetic process [GO:0042759]; monoterpenoid metabolic process [GO:0016098]; oxidation-reduction process [GO:0055114]; oxidative demethylation [GO:0070989]; steroid catabolic process [GO:0006706]; steroid metabolic process [GO:0008202]; vitamin D metabolic process [GO:0042359]; xenobiotic metabolic process [GO:0006805]

drug:
DB05812;DB01418;DB00316;DB00819;DB00546;DB00518;DB00240;DB00041;DB00802;DB00346;DB01246;DB09026;DB01431;DB00918;DB06203;DB00969;DB00404;DB06403;DB06742;DB00357;DB01424;DB01223;DB01118;DB00321;DB00381;DB00701;DB01217;DB01435;DB06605;DB05676;DB00673;DB00278;DB01238;DB06413;DB01169;DB06697;DB06216;DB00637;DB01072;DB00289;DB01076;DB06237;DB06626;DB00719;DB00972;DB04957;DB00207;DB04975;DB08903;DB00865;DB06770;DB00443;DB00307;DB01393;DB01128;DB04794;DB00612;DB08873;DB00188;DB00559;DB06616;DB08870;DB09128;DB01194;DB01558;DB01200;DB00835;DB01222;DB00297;DB00921;DB01156;DB00490;DB01008;DB06772;DB00248;DB08875;DB00201;DB04886;DB00136;DB08907;DB06774;DB00564;DB00748;DB06016;DB01136;DB00520;DB01333;DB00482;DB04846;DB00567;DB09063;DB00439;DB00185;DB06777;DB00446;DB00475;DB00608;DB01114;DB00856;DB00477;DB00356;DB00169;DB01410;DB01166;DB00501;DB01012;DB00537;DB00604;DB00215;DB01211;DB00283;DB04920;DB01190;DB00349;DB00845;DB00636;DB00882;DB01242;DB01068;DB00575;DB00758;DB00628;DB01559;DB00257;DB00363;DB09065;DB05239;DB00907;DB00318;DB01394;DB00872;DB00286;DB01380;DB08865;DB00924;DB00531;DB00091;DB00987;DB08912;DB09102;DB01764;DB01406;DB01219;DB06292;DB00250;DB00496;DB01264;DB09183;DB01254;DB00694;DB01609;DB11921;DB00705;DB01151;DB06700;DB01234;DB04856;DB00514;DB00647;DB00829;DB00586;DB00485;DB00255;DB01396;DB00390;DB01551;DB00320;DB00343;DB01093;DB00280;DB00822;DB01248;DB00204;DB00757;DB08930;DB01184;DB00843;DB00869;DB01142;DB00997;DB00254;DB00470;DB04855;DB01395;DB01126;DB01127;DB00625;DB00216;DB09039;DB09101;DB00584;DB08899;DB00751;DB00668;DB00700;DB00153;DB01049;DB01253;DB00696;DB00530;DB00199;DB01175;DB09119;DB00736;DB01215;DB00783;DB01196;DB00655;DB04574;DB00402;DB00898;DB00977;DB00593;DB01466;DB00294;DB00773;DB01628;DB06414;DB01590;DB00990;DB00973;DB00426;DB00949;DB01023;DB01039;DB00813;DB06702;DB01216;DB08868;DB04908;DB00301;DB00196;DB00180;DB01544;DB00324;DB00472;DB00690;DB00499;DB08906;DB00588;DB01095;DB00176;DB01319;DB06717;DB01320;DB00947;DB00674;DB00317;DB01241;DB01067;DB01016;DB08909;DB00889;DB00365;DB00400;DB01170;DB01018;DB01218;DB00502;DB01159;DB01355;DB05381;DB01275;DB00956;DB00769;DB00741;DB00327;DB06789;DB09053;DB11737;DB09054;DB01181;DB04946;DB00619;DB00458;DB00724;DB05039;DB00808;DB00224;DB00332;DB01029;DB00762;DB06636;DB00951;DB00883;DB01020;DB00270;DB01167;DB09083;DB08820;DB00602;DB04845;DB09570;DB01321;DB01221;DB01587;DB06738;DB01026;DB00448;DB01259;DB06685;DB09078;DB00528;DB01006;DB01002;DB06282;DB01137;DB01227;DB08918;DB00367;DB13139;DB00451;DB00281;DB08882;DB00589;DB08827;DB01206;DB00836;DB01601;DB00455;DB04871;DB00678;DB00227;DB08933;DB09280;DB06708;DB08815;DB08932;DB04835;DB00643;DB00603;DB00358;DB00814;DB01071;DB04817;DB00333;DB04833;DB00703;DB00763;DB00553;DB01028;DB09543;DB00353;DB00959;DB06710;DB00916;DB01011;DB00379;DB06148;DB01388;DB01110;DB00683;DB00834;DB08893;DB00370;DB00648;DB01204;DB00745;DB00471;DB00295;DB00688;DB00607;DB09049;DB01183;DB00731;DB01149;DB00220;DB09048;DB00238;DB00622;DB02701;DB00184;DB01115;DB04868;DB06712;DB00393;DB00401;DB01595;DB01054;DB00435;DB00717;DB01059;DB00957;DB09389;DB00540;DB00334;DB09074;DB00768;DB00338;DB00904;DB04911;DB01083;DB01173;DB09330;DB04938;DB00842;DB00776;DB00239;DB01062;DB00497;DB01192;DB01229;DB09073;DB01267;DB00377;DB06603;DB00213;DB00617;DB01384;DB08439;DB00910;DB09297;DB06589;DB00082;DB00738;DB00312;DB08883;DB01186;DB01074;DB04930;DB00850;DB00454;DB03783;DB00780;DB01174;DB00925;DB00946;DB00812;DB00252;DB01085;DB00337;DB01100;DB01132;DB01621;DB04977;DB01179;DB08910;DB08901;DB01263;DB05478;DB01411;DB01708;DB06209;DB00175;DB01588;DB01058;DB00860;DB00635;DB01087;DB00794;DB01032;DB00433;DB00396;DB01131;DB00420;DB01182;DB00818;DB09396;DB00571;DB00339;DB00545;DB01589;DB01224;DB01103;DB00908;DB00468;DB01369;DB01129;DB00481;DB00980;DB00863;DB00243;DB00234;DB08896;DB00912;DB02709;DB01256;DB00615;DB04934;DB01045;DB01201;DB01220;DB08864;DB06155;DB08931;DB00734;DB00503;DB06228;DB00989;DB00533;DB09291;DB01301;DB06176;DB00268;DB00296;DB01098;DB05271;DB00778;DB12332;DB06201;DB01698;DB08877;DB06654;DB01001;DB00938;DB01232;DB06335;DB01037;DB11362;DB06144;DB01104;DB01236;DB01105;DB00203;DB06207;DB06290;DB00641;DB00877;DB01261;DB06268;DB01591;DB09143;DB00398;DB06145;DB01323;DB00708;DB00359;DB01015;DB00259;DB01138;DB00263;DB01268;DB00864;DB00820;DB00675;DB00706;DB01349;DB05521;DB00976;DB00231;DB00853;DB06287;DB00444;DB00857;DB00342;DB04905;DB00624;DB00759;DB00277;DB00599;DB04572;DB00906;DB08816;DB00208;DB00911;DB01007;DB01409;DB00932;DB08895;DB08811;DB01036;DB06212;DB00273;DB01030;DB00539;DB05109;DB00193;DB08911;DB00752;DB05773;DB00656;DB00755;DB00620;DB00897;DB00347;DB00440;DB00726;DB00197;DB01361;DB06267;DB08867;DB00580;DB00313;DB05294;DB03701;DB00862;DB08881;DB11581;DB00285;DB00661;DB09082;DB06684;DB00570;DB00541;DB00309;DB00361;DB08828;DB00582;DB09068;DB00682;DB01392;DB00549;DB00943;DB00962;DB00495;DB00744;DB00246;DB00425;DB04828;DB00909;DB01198;

snps:
rs12721634 rs56324128 rs3091339 rs55951658 rs72552799 rs4986907 rs72552798 rs4986908 rs12721627 rs4987161 rs55901263 rs55785340 rs3208363 rs28371759 rs10250778 rs67784355 rs12721629 rs4986909 rs1041988 rs4986910 rs4986913 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane {ECO:0000269|PubMed:21576599}; Single-pass membrane protein.


uniprotID: P20815
geneSymbol: CYP3A5
reactome: R-HSA-211981;R-HSA-5423646;
pdb: 5VEU;
name: Cytochrome P450 3A5 (EC 1.14.14.1) (CYPIIIA5) (Cytochrome P450 HLp2) (Cytochrome P450-PCN3)
length: 502
go: ENSG00000106258;
snps: rs55817950 rs28383468 rs56411402 rs28383477 rs28383479 rs28365092 rs28365083 rs41279854 rs28365085
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; aromatase activity [GO:0070330]; estrogen 16-alpha-hydroxylase activity [GO:0101020]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity [GO:0016491]; oxygen binding [GO:0019825]; alkaloid catabolic process [GO:0009822]; drug catabolic process [GO:0042737]; lipid hydroxylation [GO:0002933]; oxidative demethylation [GO:0070989]; steroid metabolic process [GO:0008202]; xenobiotic metabolic process [GO:0006805]

drug:
DB00802;DB00404;DB06403;DB01118;DB00321;DB00381;DB00701;DB06605;DB00673;DB00278;DB01238;DB06413;DB06697;DB00637;DB01076;DB06626;DB00972;DB04957;DB00394;DB08873;DB08870;DB00921;DB00490;DB06772;DB00201;DB00564;DB00439;DB06419;DB00446;DB00608;DB01114;DB01166;DB00501;DB00537;DB00604;DB01211;DB00575;DB00758;DB05239;DB00907;DB00318;DB08865;DB00531;DB00091;DB09102;DB00250;DB01254;DB00694;DB00705;DB01234;DB04856;DB00514;DB00829;DB00343;DB00822;DB01248;DB08930;DB01184;DB01126;DB08899;DB00700;DB00530;DB00783;DB00655;DB00593;DB00773;DB01023;DB00813;DB01216;DB00196;DB00472;DB00499;DB00588;DB01095;DB00176;DB00317;DB06730;DB00889;DB01218;DB00502;DB00741;DB06789;DB09053;DB01181;DB04946;DB00619;DB00224;DB00762;DB01167;DB01026;DB01259;DB00528;DB01227;DB00281;DB00678;DB00227;DB00333;DB01388;DB00683;DB00834;DB00745;DB00688;DB00731;DB01149;DB00220;DB00238;DB00622;DB01115;DB00393;DB00401;DB01054;DB00717;DB01059;DB00540;DB00904;DB00842;DB00776;DB01062;DB00497;DB01229;DB01267;DB09297;DB00738;DB08883;DB00780;DB01174;DB00252;DB01100;DB08901;DB00175;DB01058;DB00396;DB00571;DB01224;DB01103;DB00468;DB00863;DB00206;DB01045;DB01201;DB00734;DB00503;DB06228;DB06176;DB01098;DB00938;DB01232;DB06335;DB06731;DB00203;DB00641;DB00877;DB00398;DB00795;DB01268;DB00864;DB00675;DB00976;DB06287;DB00444;DB00342;DB00624;DB01041;DB05773;DB00656;DB00755;DB00897;DB00197;DB01361;DB06267;DB00313;DB00862;DB00661;DB00541;DB00582;DB09068;DB00943;DB00962;DB00246;DB00425;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P20815-1; Sequence=Displayed; Name=2; IsoId=P20815-2; Sequence=VSP_042734, VSP_042735; Note=No experimental confirmation available.; 


uniprotID: P24462
geneSymbol: CYP3A7
reactome: R-HSA-211981;
name: Cytochrome P450 3A7 (EC 1.14.14.1) (CYPIIIA7) (Cytochrome P450-HFLA)
length: 503
go: ENSG00000160870;ENSG00000282301;
snps: rs45580339 rs2257401
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; organelle membrane [GO:0031090]; aromatase activity [GO:0070330]; estrogen 16-alpha-hydroxylase activity [GO:0101020]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxygen binding [GO:0019825]; steroid hydroxylase activity [GO:0008395]; lipid hydroxylation [GO:0002933]; steroid metabolic process [GO:0008202]; xenobiotic metabolic process [GO:0006805]

drug:
DB00802;DB00404;DB01424;DB01118;DB00381;DB00673;DB01238;DB00637;DB01076;DB00921;DB00490;DB00201;DB00564;DB00439;DB00446;DB01114;DB01166;DB00501;DB00537;DB00604;DB01211;DB00257;DB05239;DB00907;DB00318;DB00531;DB00091;DB09102;DB00250;DB05804;DB00705;DB01234;DB00514;DB00647;DB00829;DB00343;DB01248;DB08930;DB01184;DB00700;DB00199;DB00783;DB00593;DB01466;DB01023;DB00813;DB01216;DB00196;DB00588;DB00176;DB06730;DB00502;DB00741;DB01181;DB04946;DB00619;DB00458;DB00224;DB00762;DB01167;DB01026;DB00528;DB01227;DB00281;DB00227;DB00333;DB01388;DB00683;DB00834;DB00731;DB01149;DB00220;DB01115;DB00401;DB01054;DB00717;DB01059;DB00904;DB00842;DB00497;DB01229;DB00780;DB01174;DB00252;DB01100;DB01708;DB01058;DB00396;DB09396;DB00571;DB01224;DB00908;DB00468;DB01045;DB01201;DB00734;DB00503;DB00938;DB01232;DB06731;DB00203;DB00641;DB00877;DB00398;DB01268;DB00864;DB00675;DB00976;DB06287;DB00342;DB00624;DB00656;DB00755;DB00897;DB00197;DB00661;DB00541;DB00582;DB00943;DB00962;DB00246;DB00425;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P24462-1; Sequence=Displayed; Name=2; IsoId=P24462-2; Sequence=VSP_055577; 


uniprotID: Q6JBY9
geneSymbol: RCSD1
name: CapZ-interacting protein (Protein kinase substrate CapZIP) (RCSD domain-containing protein 1)
length: 416
go: ENSG00000198771;
snps: rs34699420
sequence:

opentargets:
actin filament [GO:0005884]; actin filament binding [GO:0051015]; cellular hyperosmotic response [GO:0071474]; skeletal muscle contraction [GO:0003009]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6JBY9-1; Sequence=Displayed; Name=2; IsoId=Q6JBY9-2; Sequence=VSP_031648; 


uniprotID: Q8NEP4
geneSymbol: C17orf47
name: Uncharacterized protein C17orf47
length: 570
go: ENSG00000181013;
snps: rs8071623 rs17822735 rs16943091
sequence:


uniprotID: Q8WW18
geneSymbol: C17orf50
name: Uncharacterized protein C17orf50
length: 174
go: ENSG00000270806;
snps: rs4795087
sequence:
MDKHGVKTPLWKKETEELRAEDAEQEEGKEGSEDEDEDNQRPLEDSATEGEEPPRVAEEGEGRERRSVSYCPLRQESSTQQVALLRRADSGFWGWLGPLALLGGLTAPTDRKRSLPEEPCVLEIRRRPPRRGGCACCELLFCKKCRSLHSHPAYVAHCVLDHPDLGKAGAAGNS


uniprotID: Q2M2W7
geneSymbol: C17orf58
name: UPF0450 protein C17orf58
sequence: MNRLYLTPDGFFFRVHMLALDSSSCNKPCPEFKPGSRYIVMGHIYHKRRQLPTALLQVLRGRLRPGDGLLRSSSSYVKRFNRKREGQIQGAIHTQCI
length: 97
go: ENSG00000186665;
snps: rs9891146
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2M2W7-1; Sequence=Displayed; Name=2; IsoId=Q2M2W7-2; Sequence=VSP_036597; 


uniprotID: Q86WR6
geneSymbol: C17orf64
name: Uncharacterized protein C17orf64
length: 236
go: ENSG00000141371;
sequence:


uniprotID: Q0P5P2
geneSymbol: C17orf67
name: Uncharacterized protein C17orf67
length: 114
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MASFKLADSVWEDSLSKRQRNQGRMKTLPVLVLSLTLLTVFSETSPILTEKQAKQLLRSRRQDRPSKPGFPDEPMREYMHHLLALEHRAEEQFLEHWLNPHCKPHCDRNRIHPV


uniprotID: Q96MU5
geneSymbol: C17orf77
name: Uncharacterized protein C17orf77
length: 243
opentargets: extracellular region [GO:0005576]
snps: rs493430
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q8N4C9
geneSymbol: C17orf78
name: Uncharacterized protein C17orf78
length: 275
go: ENSG00000278505;
opentargets: integral component of membrane [GO:0016021]
snps: rs1714987
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4C9-1; Sequence=Displayed; Name=2; IsoId=Q8N4C9-2; Sequence=VSP_027838, VSP_027839; Note=No experimental confirmation available.; 


uniprotID: Q9BSJ5
geneSymbol: C17orf80
length: 609
go: ENSG00000141219;
opentargets: extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]
snps: rs9902726 rs34784472 rs745143 rs904384 rs904383 rs745142 rs1566286
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Uncharacterized protein C17orf80 (Cell migration-inducing gene 3 protein) (Human lung cancer oncogene 8 protein) (HLC-8)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BSJ5-1; Sequence=Displayed; Name=2; IsoId=Q9BSJ5-2; Sequence=VSP_024572; Name=3; IsoId=Q9BSJ5-3; Sequence=VSP_024573, VSP_024574; 


uniprotID: Q86X59
geneSymbol: C17orf82
name: Putative uncharacterized protein C17orf82
length: 251
snps: rs9907379
sequence:


uniprotID: A8MV24
geneSymbol: C17orf98
name: Uncharacterized protein C17orf98
length: 154
go: ENSG00000275489;
snps: rs7210156
sequence:
MAYLSECRLRLEKGFILDGVAVSTAARAYGRSRPKLWSAIPPYNAQQDYHARSYFQSHVVPPLLRKTDQDHGGTGRDGWIVDYIHIFGQGQRYLNRRNWAGTGHSLQQVTGHDHYNADLKPIDGFNGRFGYRRNTPALRQSTSVFGEVTHFPLF


uniprotID: A8MU93
geneSymbol: C17orf100
name: Uncharacterized protein C17orf100
length: 118
sequence:
MASARGAKQSSPRVGTTRYTETSTVRVETSSHRVETSSRRVETSQRRSEGPSLSPSGKRLPRILEASSRHVESSSQRTETTSRHVRASSLRVETSLHCAESPTPRAKPAARQNEKTAR


uniprotID: Q9BV19
geneSymbol: C1orf50
name: Uncharacterized protein C1orf50
length: 199
opentargets: identical protein binding [GO:0042802]
snps: rs11548275
sequence:
MEDAAAPGRTEGVLERQGAPPAAGQGGALVELTPTPGGLALVSPYHTHRAGDPLDLVALAEQVQKADEFIRANATNKLTVIAEQIQHLQEQARKVLEDAHRDANLHHVACNIVKKPGNIYYLYKRESGQQYFSIISPKEWGTSCPHDFLGAYKLQHDLSWTPYEDIEKQDAKISMMDTLLSQSVALPPCTEPNFQGLTH


uniprotID: Q8NEQ5
geneSymbol: C1orf162
name: Transmembrane protein C1orf162
length: 155
go: ENSG00000143110;
opentargets: integral component of membrane [GO:0016021]
snps: rs6703267
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MGGNGSTCKPDTERQGTLSTAAPTTSPAPCLSNHHNKKHLILAFCAGVLLTLLLIAFIFLIIKSYRKYRRERLPISPGPLLRWVPLLSGTMADHSKPQAPDPHSDPPAKLSSIPGESLTYASTTFKLSEEKSNHLAENHSADFDPIVYAQIKVTN

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NEQ5-1; Sequence=Displayed; Name=2; IsoId=Q8NEQ5-2; Sequence=VSP_028124; 


uniprotID: Q15878
geneSymbol: CACNA1E
reactome: R-HSA-112308;R-HSA-422356;
pdb: 3BXL;
length: 2313
go: ENSG00000198216;
snps: rs35737760 rs704326
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Voltage-dependent R-type calcium channel subunit alpha-1E (Brain calcium channel II) (BII) (Calcium channel, L type, alpha-1 polypeptide, isoform 6) (Voltage-gated calcium channel subunit alpha Cav2.3)

sequence:

opentargets:
plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; calcium channel activity [GO:0005262]; calcium ion binding [GO:0005509]; voltage-gated calcium channel activity [GO:0005245]; calcium ion import [GO:0070509]; calcium ion transport [GO:0006816]; chemical synaptic transmission [GO:0007268]; membrane depolarization [GO:0051899]; regulation of insulin secretion [GO:0050796]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Alpha-1E; IsoId=Q15878-1; Sequence=Displayed; Name=2; Synonyms=Alpha-1E-1; IsoId=Q15878-2; Sequence=VSP_000937, VSP_024817; Name=3; Synonyms=Alpha-1E-3; IsoId=Q15878-3; Sequence=VSP_024817; 


uniprotID: Q96LT6
geneSymbol: C1orf74
name: UPF0739 protein C1orf74
length: 269
go: ENSG00000162757;
snps: rs7550857
sequence:


uniprotID: Q9BRK5
geneSymbol: SDF4
name: 45 kDa calcium-binding protein (Cab45) (Stromal cell-derived factor 4) (SDF-4)
length: 362
go: ENSG00000078808;
snps: rs12745364 rs766752243
sequence:

opentargets:
bleb [GO:0032059]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi lumen [GO:0005796]; late endosome [GO:0005770]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; calcium ion regulated exocytosis [GO:0017156]; cerebellum development [GO:0021549]; fat cell differentiation [GO:0045444]; response to ethanol [GO:0045471]; UV protection [GO:0009650]; zymogen granule exocytosis [GO:0070625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Cab45a, Cab45-G; IsoId=Q9BRK5-1; Sequence=Displayed; Name=2; IsoId=Q9BRK5-2; Sequence=VSP_037485; Name=3; IsoId=Q9BRK5-3; Sequence=VSP_037486, VSP_037489; Note=No experimental confirmation available.; Name=4; IsoId=Q9BRK5-4; Sequence=VSP_037487, VSP_037488; Note=No experimental confirmation available.; Name=5; Synonyms=Cab45b, Cab45-C; IsoId=Q9BRK5-5; Sequence=VSP_037484; Name=6; IsoId=Q9BRK5-6; Sequence=VSP_040559; 

location:
SUBCELLULAR LOCATION: Isoform 1: Golgi apparatus lumen {ECO:0000250|UniProtKB:Q61112}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000269|PubMed:17442889}. Cell membrane {ECO:0000269|PubMed:17442889}. Cell projection, bleb. Note=Isoform 5 colocalizes with STX3 and STXBP1 isoform 2 at the plasma membrane and cell surface blebs. {ECO:0000269|PubMed:17442889}.


uniprotID: O00555
geneSymbol: CACNA1A
reactome: R-HSA-112308;R-HSA-422356;
pdb: 3BXK;
length: 2506
go: ENSG00000141837;
drug: DB01244;DB00836;DB00230;DB00421;DB00661;
name:
Voltage-dependent P/Q-type calcium channel subunit alpha-1A (Brain calcium channel I) (BI) (Calcium channel, L type, alpha-1 polypeptide isoform 4) (Voltage-gated calcium channel subunit alpha Cav2.1)

sequence:

opentargets:
cell projection [GO:0042995]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; calcium channel activity [GO:0005262]; high voltage-gated calcium channel activity [GO:0008331]; metal ion binding [GO:0046872]; syntaxin binding [GO:0019905]; voltage-gated calcium channel activity [GO:0005245]; calcium ion import [GO:0070509]; calcium ion transmembrane transport [GO:0070588]; calcium ion transport [GO:0006816]; cell death [GO:0008219]; cellular response to amyloid-beta [GO:1904646]; chemical synaptic transmission [GO:0007268]; membrane depolarization [GO:0051899]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of insulin secretion [GO:0050796]; regulation of ion transmembrane transport [GO:0034765]; response to amyloid-beta [GO:1904645]

snps:
rs15999 rs121908211 rs121908222 rs121908225 rs121908238 rs121908228 rs121908231 rs121908236 rs121908215 rs121908239 rs121908245 rs41276886 rs121908240 rs121908217 rs121908246 rs121908212 rs121908213 rs121908218 rs16019 rs121908241 rs121908242 rs16020 rs16022 rs16023 rs16024 rs16027 rs16028 rs121908223 rs121908230 rs121908219 rs121908227 rs121908237 rs121908232 rs121908233 rs121908234 rs121908216 rs121908247 rs121908220 rs121908243 rs121908221 rs121908224 rs121908229 rs121908226 rs121908214 rs121908244 rs121908235 rs16056 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=1A-1, BI-1-GGCAG {ECO:0000303|PubMed:8988170}; IsoId=O00555-8; Sequence=Displayed; Name=2; Synonyms=1A-2, BI-1 {ECO:0000303|PubMed:8988170}; IsoId=O00555-2; Sequence=VSP_059675, VSP_059676, VSP_059677, VSP_059681; Name=3; Synonyms=BI-1(V1) {ECO:0000303|PubMed:8988170}; IsoId=O00555-3; Sequence=VSP_059675, VSP_059678, VSP_059679, VSP_059681; Name=4; Synonyms=BI-1(V1)-GGCAG {ECO:0000303|PubMed:8988170}; IsoId=O00555-4; Sequence=VSP_059675, VSP_059678, VSP_059679, VSP_059682; Name=5; Synonyms=BI-1(V2) {ECO:0000303|PubMed:8988170}; IsoId=O00555-5; Sequence=VSP_059675, VSP_059680, VSP_059681; Name=6; Synonyms=BI-1(V2)-GGCAG {ECO:0000303|PubMed:8988170}; IsoId=O00555-6; Sequence=VSP_059675, VSP_059680, VSP_059682; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10049321, ECO:0000269|PubMed:26716990}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q96GE6
geneSymbol: CALML4
name: Calmodulin-like protein 4 (Serologically defined breast cancer antigen NY-BR-20)
length: 196
go: ENSG00000129007;
snps: rs3803381 rs2280217
sequence:
MAAEHLLPGPPPSLADFRLEAGGKGTERGSGSSKPTGSSRGPRMAKFLSQDQINEYKECFSLYDKQQRGKIKATDLMVAMRCLGASPTPGEVQRHLQTHGIDGNGELDFSTFLTIMHMQIKQEDPKKEILLAMLMVDKEKKGYVMASDLRSKLTSLGEKLTHKEVDDLFREADIEPNGKVKYDEFIHKITLPGRDY

opentargets:
nucleus [GO:0005634]; calcium ion binding [GO:0005509]; enzyme regulator activity [GO:0030234]; calcium-mediated signaling [GO:0019722]; spindle pole body organization [GO:0051300]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96GE6-1; Sequence=Displayed; Name=2; IsoId=Q96GE6-2; Sequence=VSP_030436; Name=3; IsoId=Q96GE6-3; Sequence=VSP_030435; Name=4; IsoId=Q96GE6-4; Sequence=VSP_047150; Note=Gene prediction based on EST data.; Name=5; IsoId=Q96GE6-5; Sequence=VSP_055513, VSP_055514; Note=No experimental confirmation available.; 


uniprotID: A8MX76
geneSymbol: CAPN14
reactome: R-HSA-1474228;
name: Calpain-14 (EC 3.4.22.-) (Calcium-activated neutral proteinase 14) (CANP 14)
length: 684
go: ENSG00000214711;
sequence:

opentargets:
cytoplasm [GO:0005737]; calcium ion binding [GO:0005509]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A8MX76-1; Sequence=Displayed; Name=2; IsoId=A8MX76-2; Sequence=VSP_034268, VSP_034269; 


uniprotID: Q9GZT6
geneSymbol: CCDC90B
name: Coiled-coil domain-containing protein 90B, mitochondrial
length: 254
go: ENSG00000137500;
snps: rs494791
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9GZT6-1; Sequence=Displayed; Name=2; IsoId=Q9GZT6-2; Sequence=VSP_027003; Name=3; IsoId=Q9GZT6-3; Sequence=VSP_055663; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:11256614}; Single-pass membrane protein {ECO:0000255}.


uniprotID: P78396
geneSymbol: CCNA1
name: Cyclin-A1
length: 465
go: ENSG00000133101;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
reactome:
R-HSA-1538133;R-HSA-170145;R-HSA-174184;R-HSA-176408;R-HSA-187577;R-HSA-2559582;R-HSA-2559586;R-HSA-539107;R-HSA-5689880;R-HSA-5693607;R-HSA-6804116;R-HSA-6804756;R-HSA-6804757;R-HSA-68911;R-HSA-68949;R-HSA-69017;R-HSA-69273;R-HSA-69563;R-HSA-69656;

sequence:

opentargets:
cyclin A1-CDK2 complex [GO:0097123]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule cytoskeleton [GO:0015630]; 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]; male meiosis I [GO:0007141]; mitotic cell cycle [GO:0000278]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; protein deubiquitination [GO:0016579]; protein phosphorylation [GO:0006468]; 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]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P78396-1; Sequence=Displayed; Name=2; IsoId=P78396-2; Sequence=VSP_034392; Name=3; IsoId=P78396-3; Sequence=VSP_044257; 


uniprotID: P14635
geneSymbol: CCNB1
pdb: 2B9R;2JGZ;4Y72;4YC3;5HQ0;5LQF;
name: G2/mitotic-specific cyclin-B1
length: 433
go: ENSG00000134057;
reactome:
R-HSA-113507;R-HSA-156711;R-HSA-162658;R-HSA-174048;R-HSA-176408;R-HSA-176412;R-HSA-176417;R-HSA-2299718;R-HSA-2465910;R-HSA-2500257;R-HSA-2514853;R-HSA-2565942;R-HSA-2980767;R-HSA-3301854;R-HSA-4419969;R-HSA-6804114;R-HSA-68875;R-HSA-69273;R-HSA-69478;R-HSA-75035;R-HSA-8852276;R-HSA-8878166;

sequence:

opentargets:
centrosome [GO:0005813]; condensed nuclear chromosome outer kinetochore [GO:0000942]; cyclin B1-CDK1 complex [GO:0097125]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrial matrix [GO:0005759]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle pole [GO:0000922]; cyclin-dependent protein serine/threonine kinase activator activity [GO:0061575]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; histone kinase activity [GO:0035173]; patched binding [GO:0005113]; protein kinase binding [GO:0019901]; ubiquitin-like protein ligase binding [GO:0044389]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell division [GO:0051301]; cellular response to fatty acid [GO:0071398]; cellular response to hypoxia [GO:0071456]; cellular response to iron(III) ion [GO:0071283]; cellular response to organic cyclic compound [GO:0071407]; digestive tract development [GO:0048565]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; G2/M transition of mitotic cell cycle [GO:0000086]; histone H3-S10 phosphorylation involved in chromosome condensation [GO:2000775]; in utero embryonic development [GO:0001701]; mitotic cell cycle [GO:0000278]; mitotic metaphase plate congression [GO:0007080]; mitotic nuclear envelope disassembly [GO:0007077]; mitotic spindle organization [GO:0007052]; negative regulation of gene expression [GO:0010629]; negative regulation of protein phosphorylation [GO:0001933]; oocyte maturation [GO:0001556]; positive regulation of attachment of spindle microtubules to kinetochore [GO:0051987]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of histone phosphorylation [GO:0033129]; positive regulation of mitochondrial ATP synthesis coupled electron transport [GO:1905448]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of mRNA 3'-end processing [GO:0031442]; protein-containing complex assembly [GO:0065003]; regulation of cell cycle [GO:0051726]; regulation of chromosome condensation [GO:0060623]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic cell cycle spindle assembly checkpoint [GO:0090266]; regulation of mitotic nuclear division [GO:0007088]; response to DDT [GO:0046680]; response to mechanical stimulus [GO:0009612]; spermatogenesis [GO:0007283]; tissue regeneration [GO:0042246]; ventricular cardiac muscle cell development [GO:0055015]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14635-1; Sequence=Displayed; Name=2; IsoId=P14635-2; Sequence=VSP_053892; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.


uniprotID: P04234
geneSymbol: CD3D
pdb: 1XIW;
name: T-cell surface glycoprotein CD3 delta chain (T-cell receptor T3 delta chain) (CD antigen CD3d)
length: 171
go: ENSG00000167286;
drug: DB09052;DB00075;
snps: rs45510201
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
reactome:
R-HSA-198933;R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-389948;R-HSA-8856825;R-HSA-8856828;

sequence:
MEHSTFLSGLVLATLLSQVSPFKIPIEELEDRVFVNCNTSITWVEGTVGTLLSDITRLDLGKRILDPRGIYRCNGTDIYKDKESTVQVHYRMCQSCVELDPATVAGIIVTDVIATLLLALGVFCFAGHETGRLSGAADTQALLRNDQVYQPLRDRDDAQYSHLGGNWARNK

opentargets:
alpha-beta T cell receptor complex [GO:0042105]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; T cell receptor complex [GO:0042101]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; transcription coactivator activity [GO:0003713]; transmembrane signaling receptor activity [GO:0004888]; adaptive immune response [GO:0002250]; cell surface receptor signaling pathway [GO:0007166]; membrane organization [GO:0061024]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive thymic T cell selection [GO:0045059]; protein homooligomerization [GO:0051260]; regulation of immune response [GO:0050776]; T cell differentiation [GO:0030217]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P04234-1; Sequence=Displayed; Name=2; IsoId=P04234-2; Sequence=VSP_045800; Note=No experimental confirmation available.; 


uniprotID: O95400
geneSymbol: CD2BP2
reactome: R-HSA-72163;
pdb: 1GYF;1L2Z;1SYX;4BWS;
length: 341
go: ENSG00000169217;
snps: rs13330462 rs34391305
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Predominantly nuclear.
name:
CD2 antigen cytoplasmic tail-binding protein 2 (CD2 cytoplasmic domain-binding protein 2) (CD2 tail-binding protein 2) (U5 snRNP 52K protein) (U5-52K)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U5 snRNP [GO:0005682]; ribonucleoprotein complex binding [GO:0043021]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of phosphatase activity [GO:0010923]; spliceosomal tri-snRNP complex assembly [GO:0000244]


uniprotID: P60953
geneSymbol: CDC42
name: Cell division control protein 42 homolog (G25K GTP-binding protein)
length: 191
go: ENSG00000070831;
drug: DB02623;DB04315;
snps: rs864309721
reactome:
R-HSA-114604;R-HSA-182971;R-HSA-194840;R-HSA-2029482;R-HSA-375170;R-HSA-389359;R-HSA-3928662;R-HSA-416482;R-HSA-418885;R-HSA-428543;R-HSA-4420097;R-HSA-5625970;R-HSA-5626467;R-HSA-5627123;R-HSA-5663213;R-HSA-5663220;R-HSA-5687128;R-HSA-8950505;R-HSA-983231;

pdb:
1A4R;1AJE;1AM4;1AN0;1CEE;1CF4;1DOA;1E0A;1EES;1GRN;1GZS;1KI1;1KZ7;1KZG;1NF3;2ASE;2DFK;2KB0;2NGR;2ODB;2QRZ;2WM9;2WMN;2WMO;3GCG;3QBV;3VHL;4DID;4ITR;4JS0;4YC7;4YDH;5CJP;5FI1;5HZK;5UPK;5UPL;

sequence:
MQTIKCVVVGDGAVGKTCLLISYTTNKFPSEYVPTVFDNYAVTVMIGGEPYTLGLFDTAGQEDYDRLRPLSYPQTDVFLVCFSVVSPSSFENVKEKWVPEITHHCPKTPFLLVGTQIDLRDDPSTIEKLAKNKQKPITPETAEKLARDLKAVKYVECSALTQKGLKNVFDEAILAALEPPEPKKSRRCVLL

opentargets:
cell cortex [GO:0005938]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; filopodium [GO:0030175]; focal adhesion [GO:0005925]; Golgi membrane [GO:0000139]; Golgi transport complex [GO:0017119]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; mitotic spindle [GO:0072686]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; Schaffer collateral - CA1 synapse [GO:0098685]; secretory granule [GO:0030141]; spindle midzone [GO:0051233]; apolipoprotein A-I receptor binding [GO:0034191]; GBD domain binding [GO:0032427]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; thioesterase binding [GO:0031996]; ubiquitin protein ligase activity [GO:0061630]; actin cytoskeleton organization [GO:0030036]; actin filament branching [GO:0090135]; actin filament organization [GO:0007015]; blood coagulation [GO:0007596]; Cdc42 protein signal transduction [GO:0032488]; cell junction assembly [GO:0034329]; cell projection assembly [GO:0030031]; dendritic spine morphogenesis [GO:0060997]; endocytosis [GO:0006897]; ephrin receptor signaling pathway [GO:0048013]; establishment of epithelial cell apical/basal polarity [GO:0045198]; establishment of Golgi localization [GO:0051683]; establishment or maintenance of cell polarity [GO:0007163]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; Golgi organization [GO:0007030]; integrin-mediated signaling pathway [GO:0007229]; interleukin-12-mediated signaling pathway [GO:0035722]; macrophage differentiation [GO:0030225]; modification of synaptic structure [GO:0099563]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of protein complex assembly [GO:0031333]; neuropilin signaling pathway [GO:0038189]; organelle transport along microtubule [GO:0072384]; phagocytosis, engulfment [GO:0006911]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of catalytic activity [GO:0043085]; positive regulation of cell growth [GO:0030307]; positive regulation of cytokinesis [GO:0032467]; positive regulation of DNA replication [GO:0045740]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of JNK cascade [GO:0046330]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of pseudopodium assembly [GO:0031274]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; positive regulation of synapse structural plasticity [GO:0051835]; regulation of attachment of spindle microtubules to kinetochore [GO:0051988]; regulation of cell shape [GO:0008360]; regulation of filopodium assembly [GO:0051489]; regulation of lamellipodium assembly [GO:0010591]; regulation of modification of postsynaptic structure [GO:0099159]; regulation of small GTPase mediated signal transduction [GO:0051056]; regulation of stress fiber assembly [GO:0051492]; Rho protein signal transduction [GO:0007266]; sprouting angiogenesis [GO:0002040]; submandibular salivary gland formation [GO:0060661]; substantia nigra development [GO:0021762]; T cell costimulation [GO:0031295]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; viral RNA genome replication [GO:0039694]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=Placental; IsoId=P60953-2, P21181-4; Sequence=Displayed; Name=1; Synonyms=Brain; IsoId=P60953-1, P21181-1; Sequence=VSP_040583, VSP_040584; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:15642749}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15642749}. Midbody {ECO:0000269|PubMed:15642749}. Note=Localizes to spindle during prometaphase cells. Moves to the central spindle as cells progressed through anaphase to telophase (PubMed:15642749). Localizes at the end of cytokinesis in the intercellular bridge formed between two daughter cells (PubMed:15642749). Its localization is regulated by the activities of guanine nucleotide exchange factor ECT2 and GTPase activating protein RACGAP1 (PubMed:15642749). Colocalizes with NEK6 in the centrosome (PubMed:20873783). In its active GTP-bound form localizes to the leading edge membrane of migrating dendritic cells (By similarity). {ECO:0000250|UniProtKB:P60766, ECO:0000269|PubMed:15642749, ECO:0000269|PubMed:20873783}.


uniprotID: O75419
geneSymbol: CDC45
reactome: R-HSA-176187;R-HSA-176974;R-HSA-539107;R-HSA-68962;
pdb: 5DGO;
name: Cell division control protein 45 homolog (PORC-PI-1)
length: 566
go: ENSG00000093009;
snps: rs13447203 rs17209274 rs13447263
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; DNA replication preinitiation complex [GO:0031261]; nuclear pre-replicative complex [GO:0005656]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; replication fork protection complex [GO:0031298]; 3'-5' DNA helicase activity [GO:0043138]; chromatin binding [GO:0003682]; DNA replication origin binding [GO:0003688]; single-stranded DNA binding [GO:0003697]; DNA replication [GO:0006260]; DNA replication checkpoint [GO:0000076]; DNA replication initiation [GO:0006270]; double-strand break repair via break-induced replication [GO:0000727]; G1/S transition of mitotic cell cycle [GO:0000082]; mitotic DNA replication preinitiation complex assembly [GO:1902977]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; pre-replicative complex assembly involved in nuclear cell cycle DNA replication [GO:0006267]; regulation of chromatin silencing at telomere [GO:0031938]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75419-1; Sequence=Displayed; Name=2; IsoId=O75419-2; Sequence=VSP_043129; Note=No experimental confirmation available.; Name=3; IsoId=O75419-3; Sequence=VSP_045411; Note=No experimental confirmation available.; 


uniprotID: Q8IX05
geneSymbol: CD302
pdb: 2NAN;
length: 232
go: ENSG00000241399;
snps: rs34068933
name:
CD302 antigen (C-type lectin BIMLEC) (C-type lectin domain family 13 member A) (DEC205-associated C-type lectin 1) (Type I transmembrane C-type lectin receptor DCL-1) (CD antigen CD302)

sequence:

opentargets:
cell cortex [GO:0005938]; filopodium [GO:0030175]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; microvillus [GO:0005902]; carbohydrate binding [GO:0030246]; phagocytosis [GO:0006909]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8IX05-1; Sequence=Displayed; Note=Produced by intergenic splicing of LY75 and CD302.; Name=4; IsoId=O60449-1; Sequence=External; Name=5; IsoId=Q8IX05-2; Sequence=VSP_044258, VSP_044259; Name=2; Synonyms=Fusion protein variant V34-2; IsoId=O60449-2; Sequence=External; Note=Produced by intergenic splicing of LY75 and CD302.; Name=3; Synonyms=Fusion protein variant V33-2; IsoId=O60449-3; Sequence=External; Note=Produced by intergenic splicing of LY75 and CD302.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, filopodium {ECO:0000269|PubMed:17947679}. Cytoplasm, cell cortex {ECO:0000269|PubMed:17947679}. Cell projection, microvillus {ECO:0000269|PubMed:17947679}. Note=Colocalizes with F-actin in filopodia, cellular cortex and microvilli of the apical cell surface.


uniprotID: Q5SR53
geneSymbol: PIK3CD-AS1
length: 167
name:
Putative uncharacterized protein PIK3CD-AS1 (PIK3CD antisense RNA 1) (PIK3CD antisense gene protein 1)

sequence:
MPSQSACPVLSTAPGTPCDLRKHLLNMVSEEKRSPQLSAKTWRRGLRLQKRRNALFLPEGDICVVGSTSGARALIPETSKLERSGTVIAYCNLELLASSDPPVWASQSTGMTGMSYRSQPQLGFKSTPPAHSSVFHHSVKAPKEDQAQEAASRPLTSQDGWNPNIKK


uniprotID: Q96MC9
geneSymbol: C1orf147
name: Uncharacterized protein C1orf147
length: 270
snps: rs2336940 rs11118256 rs17024805
sequence:


uniprotID: O60840
geneSymbol: CACNA1F
reactome: R-HSA-5576892;R-HSA-5576893;
length: 1977
go: ENSG00000102001;
drug: DB00568;DB04920;DB04855;DB01388;DB00393;DB00421;DB00661;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Voltage-dependent L-type calcium channel subunit alpha-1F (Voltage-gated calcium channel subunit alpha Cav1.4)

sequence:

opentargets:
integral component of membrane [GO:0016021]; perikaryon [GO:0043204]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; high voltage-gated calcium channel activity [GO:0008331]; metal ion binding [GO:0046872]; voltage-gated calcium channel activity [GO:0005245]; calcium ion import [GO:0070509]; calcium ion transport [GO:0006816]; detection of light stimulus involved in visual perception [GO:0050908]; negative regulation of voltage-gated calcium channel activity [GO:1901386]; regulation of ion transmembrane transport [GO:0034765]; regulation of T cell receptor signaling pathway [GO:0050856]; T cell homeostasis [GO:0043029]; visual perception [GO:0007601]

snps:
rs6520408 rs122456133 rs34162630 rs201654095 rs141010716 rs141159097 rs122456136 rs1249437161 rs34308720 rs34308720 rs33910054 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Cav1.4FL {ECO:0000303|PubMed:27226626}; IsoId=O60840-1; Sequence=Displayed; Name=2; IsoId=O60840-2; Sequence=VSP_036785; Name=3; IsoId=O60840-4; Sequence=VSP_045172; Name=4; Synonyms=Cav1.4Deltaex p45,47 {ECO:0000303|PubMed:27226626}; IsoId=O60840-5; Sequence=VSP_058923, VSP_058924; Name=5; Synonyms=Cav1.4Deltaex p45 {ECO:0000303|PubMed:27226626}; IsoId=O60840-6; Sequence=VSP_058923; Name=6; Synonyms=Cav1.4Deltaex 47 {ECO:0000303|PubMed:27226626}; IsoId=O60840-7; Sequence=VSP_058924; 


uniprotID: Q5T7R7
geneSymbol: C1orf185
name: Uncharacterized protein C1orf185
length: 199
go: ENSG00000204006;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MASPKGFFNYLTYFLAAGAVTLGIGFFALASALWFLICKRREIFQNSKFKAIDERCRQRPSMAKIKSHSQCVFISRNFHTGRFQLQEEQRKKEAAHIKAIKDHSKDEPQLATKNIICDPSETSSTTNRSSVTLSLSTLPSDSYYSQSIEAADDWFSDDSLVKRNSPMPSLGEPLMEKVFSYLSTISLEEGTESVLNDTL


uniprotID: Q96KC9
geneSymbol: CABS1
name: Calcium-binding and spermatid-specific protein 1 (Testis development protein NYD-SP26)
length: 395
go: ENSG00000145309;
snps: rs3796706 rs1351419 rs2291182
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; motile cilium [GO:0031514]; calcium ion binding [GO:0005509]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Mitochondrion {ECO:0000250}. Cell projection, cilium, flagellum {ECO:0000250}. Note=Detected in mitochondria of step 17 to 18 spermatids. Associated with the mitochondrial inner membrane in step 18 spermatids (By similarity). {ECO:0000250}.


uniprotID: P43166
geneSymbol: CA7
reactome: R-HSA-1475029;
pdb: 3MDZ;3ML5;6G4T;
name: Carbonic anhydrase 7 (EC 4.2.1.1) (Carbonate dehydratase VII) (Carbonic anhydrase VII) (CA-VII)
length: 264
go: ENSG00000168748;
drug: DB00819;DB01144;DB08846;DB00311;DB00703;DB00909;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; bicarbonate transport [GO:0015701]; positive regulation of cellular pH reduction [GO:0032849]; positive regulation of synaptic transmission, GABAergic [GO:0032230]; regulation of chloride transport [GO:2001225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43166-1; Sequence=Displayed; Name=2; IsoId=P43166-2; Sequence=VSP_044254; 


uniprotID: P27482
geneSymbol: CALML3
pdb: 1GGZ;
name: Calmodulin-like protein 3 (CaM-like protein) (CLP) (Calmodulin-related protein NB-1)
length: 149
go: ENSG00000178363;
sequence:
MADQLTEEQVTEFKEAFSLFDKDGDGCITTRELGTVMRSLGQNPTEAELRDMMSEIDRDGNGTVDFPEFLGMMARKMKDTDNEEEIREAFRVFDKDGNGFVSAAELRHVMTRLGEKLSDEEVDEMIRAADTDGDGQVNYEEFVRVLVSK

opentargets:
extracellular exosome [GO:0070062]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; enzyme regulator activity [GO:0030234]; calcium-mediated signaling [GO:0019722]; spindle pole body organization [GO:0051300]


uniprotID: Q9NZT1
geneSymbol: CALML5
reactome: R-HSA-6798695;
pdb: 2B1U;
name: Calmodulin-like protein 5 (Calmodulin-like skin protein)
length: 146
go: ENSG00000178372;
snps: rs11546426 rs10904516
sequence:
MAGELTPEEEAQYKKAFSAVDTDGNGTINAQELGAALKATGKNLSEAQLRKLISEVDSDGDGEISFQEFLTAAKKARAGLEDLQVAFRAFDQDGDGHITVDELRRAMAGLGQPLPQEELDAMIREADVDQDGRVNYEEFARMLAQE

opentargets:
extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; enzyme regulator activity [GO:0030234]; calcium-mediated signaling [GO:0019722]; epidermis development [GO:0008544]; neutrophil degranulation [GO:0043312]; signal transduction [GO:0007165]; spindle pole body organization [GO:0051300]


uniprotID: P30988
geneSymbol: CALCR
reactome: R-HSA-418555;R-HSA-419812;
pdb: 5II0;5UZ7;
name: Calcitonin receptor (CT-R)
length: 508
go: ENSG00000004948;
drug: DB01278;DB00017;
snps: rs1801197
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
amylin receptor complex 1 [GO:0150056]; amylin receptor complex 2 [GO:0150057]; amylin receptor complex 3 [GO:0150058]; axon [GO:0030424]; cell [GO:0005623]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; amylin receptor activity [GO:0097643]; calcitonin binding [GO:0032841]; calcitonin gene-related peptide receptor activity [GO:0001635]; calcitonin receptor activity [GO:0004948]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; amylin receptor signaling pathway [GO:0097647]; cell surface receptor signaling pathway [GO:0007166]; cross-receptor inhibition within G protein-coupled receptor heterodimer [GO:0038041]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of adenylate cyclase activity [GO:0045762]; positive regulation of calcium ion import across plasma membrane [GO:1905665]; positive regulation of cell death [GO:0010942]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein kinase A signaling [GO:0010739]; positive regulation of protein kinase B signaling [GO:0051897]; response to glucocorticoid [GO:0051384]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=6;  Name=1; IsoId=P30988-1; Sequence=Displayed; Name=2; IsoId=P30988-2; Sequence=VSP_053290, VSP_053291; Name=3; IsoId=P30988-3; Sequence=VSP_053289, VSP_053291; Name=4; Synonyms=Delta(1-47)hCT((a)); IsoId=P30988-4; Sequence=VSP_053289; Name=5; Synonyms=HCTR-5; IsoId=P30988-5; Sequence=VSP_053290, VSP_053292, VSP_053293; Name=6; Synonyms=HCTR-6; IsoId=P30988-6; Sequence=VSP_053290, VSP_053291, VSP_053292, VSP_053293; 


uniprotID: P07451
geneSymbol: CA3
reactome: R-HSA-1475029;
pdb: 1Z93;1Z97;2HFW;3UYN;3UYQ;
name: Carbonic anhydrase 3 (EC 4.2.1.1) (Carbonate dehydratase III) (Carbonic anhydrase III) (CA-III)
length: 260
go: ENSG00000164879;
drug: DB00819;DB08846;DB00909;
snps: rs20571
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; carbonate dehydratase activity [GO:0004089]; nickel cation binding [GO:0016151]; phosphatase activity [GO:0016791]; zinc ion binding [GO:0008270]; bicarbonate transport [GO:0015701]; response to bacterium [GO:0009617]; response to ethanol [GO:0045471]; response to oxidative stress [GO:0006979]


uniprotID: Q8N9Z2
geneSymbol: CCDC71L
name: Coiled-coil domain-containing protein 71L
length: 235
go: ENSG00000253276;
sequence:

opentargets:
cellular lipid metabolic process [GO:0044255]; positive regulation of fat cell differentiation [GO:0045600]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9Z2-1; Sequence=Displayed; Name=2; IsoId=Q8N9Z2-2; Sequence=VSP_033753; Note=No experimental confirmation available.; 


uniprotID: Q96AQ1
geneSymbol: CCDC74A
name: Coiled-coil domain-containing protein 74A
length: 378
go: ENSG00000163040;
snps: rs13660
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96AQ1-1; Sequence=Displayed; Name=2; IsoId=Q96AQ1-2; Sequence=VSP_022729; 


uniprotID: P16152
geneSymbol: CBR1
reactome: R-HSA-2162123;
pdb: 1WMA;2PFG;3BHI;3BHJ;3BHM;4Z3D;
length: 277
go: ENSG00000159228;
drug: DB00414;DB00997;DB00502;DB01046;DB05197;DB04844;
snps: rs1143663 rs41557318
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Carbonyl reductase [NADPH] 1 (EC 1.1.1.184) (15-hydroxyprostaglandin dehydrogenase [NADP(+)]) (EC 1.1.1.197) (NADPH-dependent carbonyl reductase 1) (Prostaglandin 9-ketoreductase) (Prostaglandin-E(2) 9-reductase) (EC 1.1.1.189) (Short chain dehydrogenase/reductase family 21C member 1)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; 15-hydroxyprostaglandin dehydrogenase (NADP+) activity [GO:0047021]; carbonyl reductase (NADPH) activity [GO:0004090]; oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor [GO:0016655]; prostaglandin-E2 9-reductase activity [GO:0050221]; cyclooxygenase pathway [GO:0019371]; drug metabolic process [GO:0017144]; epithelial cell differentiation [GO:0030855]; oxidation-reduction process [GO:0055114]; vitamin K metabolic process [GO:0042373]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P16152-1; Sequence=Displayed; Name=2; IsoId=P16152-2; Sequence=VSP_054796, VSP_054797; Note=No experimental confirmation available.; 


uniprotID: Q5T9S5
geneSymbol: CCDC18
name: Coiled-coil domain-containing protein 18 (Sarcoma antigen NY-SAR-24)
length: 1454
go: ENSG00000122483;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T9S5-1; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=2; IsoId=Q5T9S5-2; Sequence=VSP_024636; Note=No experimental confirmation available.; 


uniprotID: P11049
geneSymbol: CD37
name: Leukocyte antigen CD37 (Tetraspanin-26) (Tspan-26) (CD antigen CD37)
length: 281
go: ENSG00000104894;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
extracellular exosome [GO:0070062]; immunological synapse [GO:0001772]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; cell surface receptor signaling pathway [GO:0007166]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P11049-1; Sequence=Displayed; Name=2; IsoId=P11049-2; Sequence=VSP_047228; Note=Gene prediction based on EST data.; Name=3; IsoId=P11049-3; Sequence=VSP_047228, VSP_047229; Note=No experimental confirmation available.; 


uniprotID: Q8N1A6
geneSymbol: C4orf33
name: UPF0462 protein C4orf33
length: 199
go: ENSG00000151470;
snps: rs35199409 rs2271570 rs337277 rs17351999
sequence:
MDFKIEHTWDGFPVKHEPVFIRLNPGDRGVMMDISAPFFRDPPAPLGEPGKPFNELWDYEVVEAFFLNDITEQYLEVELCPHGQHLVLLLSGRRNVWKQELPLSFRMSRGETKWEGKAYLPWSYFPPNVTKFNSFAIHGSKDKRSYEALYPVPQHELQQGQKPDFHCLEYFKSFNFNTLLGEEWKQPESDLWLIEKCDI


uniprotID: A7E2U8
geneSymbol: C4orf47
name: UPF0602 protein C4orf47
length: 309
go: ENSG00000205129;
opentargets: centrosome [GO:0005813]; cytoplasm [GO:0005737]
sequence:


uniprotID: P09326
geneSymbol: CD48
reactome: R-HSA-202733;
pdb: 2EDO;
length: 243
go: ENSG00000117091;
snps: rs2295615 rs16832307
name:
CD48 antigen (B-lymphocyte activation marker BLAST-1) (BCM1 surface antigen) (Leukocyte antigen MEM-102) (SLAM family member 2) (SLAMF2) (Signaling lymphocytic activation molecule 2) (TCT.1) (CD antigen CD48)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular exosome [GO:0070062]; intrinsic component of plasma membrane [GO:0031226]; membrane [GO:0016020]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; signaling receptor activity [GO:0038023]; defense response [GO:0006952]; leukocyte migration [GO:0050900]; regulation of adaptive immune response [GO:0002819]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P09326-1; Sequence=Displayed; Name=2; IsoId=P09326-2; Sequence=VSP_055598, VSP_055599; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1999351}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:1999351}.


uniprotID: P34810
geneSymbol: CD68
reactome: R-HSA-6798695;
name: Macrosialin (Gp110) (CD antigen CD68)
length: 354
go: ENSG00000129226;
snps: rs9901673 rs35452170 rs17607 rs9901675
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; Synonyms=CD68.1; IsoId=P34810-1; Sequence=Displayed; Name=Short; Synonyms=CD68.2; IsoId=P34810-2; Sequence=VSP_003041, VSP_003042; Name=3; IsoId=P34810-3; Sequence=VSP_003041; 

location:
SUBCELLULAR LOCATION: Isoform Short: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform Long: Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein.


uniprotID: P11836
geneSymbol: MS4A1
pdb: 1S8B;2OSL;3BKY;3PP4;
length: 297
go: ENSG00000156738;
drug: DB00078;DB08935;DB06650;DB00073;DB00081;
name:
B-lymphocyte antigen CD20 (B-lymphocyte surface antigen B1) (Bp35) (Leukocyte surface antigen Leu-16) (Membrane-spanning 4-domains subfamily A member 1) (CD antigen CD20)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; epidermal growth factor receptor binding [GO:0005154]; MHC class II protein complex binding [GO:0023026]; B cell proliferation [GO:0042100]; humoral immune response [GO:0006959]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11836-1; Sequence=Displayed; Name=2; IsoId=P11836-2; Sequence=VSP_057058; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22615937}; Multi-pass membrane protein {ECO:0000269|PubMed:22615937}. Cell membrane {ECO:0000269|PubMed:22615937}; Lipid-anchor {ECO:0000269|PubMed:22615937}.


uniprotID: Q8NFZ8
geneSymbol: CADM4
length: 388
go: ENSG00000105767;
opentargets: integral component of membrane [GO:0016021]; cell adhesion [GO:0007155]
snps: rs34246023
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Cell adhesion molecule 4 (Immunoglobulin superfamily member 4C) (IgSF4C) (Nectin-like protein 4) (NECL-4) (TSLC1-like protein 2)

sequence:


uniprotID: Q08289
geneSymbol: CACNB2
reactome: R-HSA-112308;R-HSA-400042;R-HSA-419037;R-HSA-422356;R-HSA-5576892;R-HSA-5576893;
length: 660
go: ENSG00000165995;
snps: rs745502425 rs121917812
name:
Voltage-dependent L-type calcium channel subunit beta-2 (CAB2) (Calcium channel voltage-dependent subunit beta 2) (Lambert-Eaton myasthenic syndrome antigen B) (MYSB)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; L-type voltage-gated calcium channel complex [GO:1990454]; photoreceptor ribbon synapse [GO:0098684]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; voltage-gated calcium channel complex [GO:0005891]; actin filament binding [GO:0051015]; calcium channel activity [GO:0005262]; high voltage-gated calcium channel activity [GO:0008331]; voltage-gated calcium channel activity [GO:0005245]; voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels [GO:0099635]; calcium ion import [GO:0070509]; chemical synaptic transmission [GO:0007268]; membrane depolarization during atrial cardiac muscle cell action potential [GO:0098912]; membrane depolarization during AV node cell action potential [GO:0086045]; neuromuscular junction development [GO:0007528]; positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel [GO:1904879]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of high voltage-gated calcium channel activity [GO:1901843]; protein localization to plasma membrane [GO:0072659]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of voltage-gated calcium channel activity [GO:1901385]; visual perception [GO:0007601]

drug:
DB00381;DB04855;DB01023;DB00270;DB00653;DB01388;DB00622;DB01115;DB06712;DB00393;DB00401;DB01054;DB00421;DB00661;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=2d; Synonyms=CACNB2d; IsoId=Q08289-1; Sequence=Displayed; Name=2a; Synonyms=CACNB2a; IsoId=Q08289-2; Sequence=VSP_000627; Name=2b; Synonyms=CACNB2b, 2aN4; IsoId=Q08289-3; Sequence=VSP_000628; Name=2c; Synonyms=CACNB2c, 2aN2; IsoId=Q08289-4; Sequence=VSP_000626; Name=2e; Synonyms=CACNB2e; IsoId=Q08289-5; Sequence=VSP_000629; Name=2f; IsoId=Q08289-6; Sequence=VSP_000627, VSP_000630; Name=2g; IsoId=Q08289-7; Sequence=VSP_000630; Name=2h; Synonyms=2cN1; IsoId=Q08289-8; Sequence=VSP_000631; Name=2cN2; IsoId=Q08289-9; Sequence=VSP_000626, VSP_000631; Name=2cN4; IsoId=Q08289-10; Sequence=VSP_000628, VSP_000631; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}.


uniprotID: Q9HA72
geneSymbol: CALHM2
name: Calcium homeostasis modulator protein 2 (Protein FAM26B)
length: 323
go: ENSG00000138172;
opentargets: integral component of plasma membrane [GO:0005887]; ion transport [GO:0006811]
snps: rs2232660 rs2232662
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HA72-1; Sequence=Displayed; Name=2; IsoId=Q9HA72-2; Sequence=VSP_013853, VSP_013854; Note=No experimental confirmation available.; Name=3; IsoId=Q9HA72-3; Sequence=VSP_013856, VSP_013855; Note=No experimental confirmation available.; 


uniprotID: Q9Y6W3
geneSymbol: CAPN7
reactome: R-HSA-1474228;
pdb: 2QFE;
name: Calpain-7 (EC 3.4.22.-) (PalB homolog) (PalBH)
length: 813
go: ENSG00000131375;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleus [GO:0005634]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; endopeptidase activity [GO:0004175]; MIT domain binding [GO:0090541]; positive regulation of epithelial cell migration [GO:0010634]; self proteolysis [GO:0097264]


uniprotID: A6NHC0
geneSymbol: CAPN8
reactome: R-HSA-1474228;
name: Calpain-8 (EC 3.4.22.53) (New calpain 2) (nCL-2) (Stomach-specific M-type calpain)
length: 703
go: ENSG00000203697;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Golgi apparatus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; calcium ion binding [GO:0005509]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; digestion [GO:0007586]; proteolysis [GO:0006508]


uniprotID: Q9H159
geneSymbol: CDH19
name: Cadherin-19
length: 772
go: ENSG00000071991;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
catenin complex [GO:0016342]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H159-1; Sequence=Displayed; Name=2; IsoId=Q9H159-2; Sequence=VSP_047020, VSP_047021; 


uniprotID: P25774
geneSymbol: CTSS
reactome: R-HSA-1236977;R-HSA-1474228;R-HSA-1679131;R-HSA-2022090;R-HSA-2132295;R-HSA-6798695;
name: Cathepsin S (EC 3.4.22.27)
length: 331
go: ENSG00000163131;
drug: DB08195;DB03837;DB03984;DB03767;DB08752;DB08755;
snps: rs2230061 rs1059604
location: SUBCELLULAR LOCATION: Lysosome.
pdb:
1BXF;1GLO;1MS6;1NPZ;1NQC;2C0Y;2F1G;2FQ9;2FRA;2FRQ;2FT2;2FUD;2FYE;2G6D;2G7Y;2H7J;2HH5;2HHN;2HXZ;2OP3;2R9M;2R9N;2R9O;3IEJ;3N3G;3N4C;3OVX;4P6E;4P6G;5QBU;5QBV;5QBW;5QBX;5QBY;5QBZ;5QC0;5QC1;5QC2;5QC3;5QC4;5QC5;5QC6;5QC7;5QC8;5QC9;5QCA;5QCB;5QCC;5QCD;5QCE;5QCF;5QCG;5QCH;5QCI;5QCJ;

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endolysosome lumen [GO:0036021]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; tertiary granule lumen [GO:1904724]; collagen binding [GO:0005518]; cysteine-type endopeptidase activity [GO:0004197]; fibronectin binding [GO:0001968]; laminin binding [GO:0043236]; proteoglycan binding [GO:0043394]; serine-type endopeptidase activity [GO:0004252]; adaptive immune response [GO:0002250]; antigen processing and presentation [GO:0019882]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; antigen processing and presentation of peptide antigen [GO:0048002]; basement membrane disassembly [GO:0034769]; cellular response to thyroid hormone stimulus [GO:0097067]; collagen catabolic process [GO:0030574]; extracellular matrix disassembly [GO:0022617]; immune response [GO:0006955]; neutrophil degranulation [GO:0043312]; positive regulation of cation channel activity [GO:2001259]; protein processing [GO:0016485]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; response to acidic pH [GO:0010447]; toll-like receptor signaling pathway [GO:0002224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P25774-1; Sequence=Displayed; Name=2; IsoId=P25774-2; Sequence=VSP_042712; Note=No experimental confirmation available.; 


uniprotID: O75828
geneSymbol: CBR3
reactome: R-HSA-211945;
pdb: 2HRB;
length: 277
go: ENSG00000159231;
drug: DB00997;
snps: rs8133052 rs9282628 rs2835285 rs16993929 rs4987121 rs1056892
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18493841}.
name:
Carbonyl reductase [NADPH] 3 (EC 1.1.1.184) (NADPH-dependent carbonyl reductase 3) (Short chain dehydrogenase/reductase family 21C member 2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; 3-keto sterol reductase activity [GO:0000253]; carbonyl reductase (NADPH) activity [GO:0004090]; NADPH binding [GO:0070402]; cognition [GO:0050890]; phylloquinone catabolic process [GO:0042376]; xenobiotic metabolic process [GO:0006805]


uniprotID: P0C221
geneSymbol: CCDC175
name: Coiled-coil domain-containing protein 175
length: 793
go: ENSG00000151838;
snps: rs17834244 rs4261431 rs12887189 rs4394993
sequence:


uniprotID: P10176
geneSymbol: COX8A
reactome: R-HSA-5628897;R-HSA-611105;
sequence: MSVLTPLLLRGLTGSARRLPVPRAKIHSLPPEGKLGIMELAVGLTSCFVTFLLPAGWILSHLETYRRPE
length: 69
go: ENSG00000176340;
drug: DB02659;DB04464;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
Cytochrome c oxidase subunit 8A, mitochondrial (Cytochrome c oxidase polypeptide VIII-liver/heart) (Cytochrome c oxidase subunit 8-2)

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; respiratory chain complex IV [GO:0045277]; cytochrome-c oxidase activity [GO:0004129]; generation of precursor metabolites and energy [GO:0006091]


uniprotID: Q15834
geneSymbol: CCDC85B
length: 202
go: ENSG00000175602;
name:
Coiled-coil domain-containing protein 85B (Hepatitis delta antigen-interacting protein A) (Delta-interacting protein A)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; cell differentiation [GO:0030154]; negative regulation of cell growth [GO:0030308]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of transcription, DNA-templated [GO:0045892]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17014843, ECO:0000269|PubMed:17873903}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17014843}.


uniprotID: Q96LX7
geneSymbol: CCDC17
name: Coiled-coil domain-containing protein 17
length: 622
go: ENSG00000159588;
snps: rs3014242 rs17410855 rs2297654 rs3014246
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96LX7-4; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96LX7-5; Sequence=VSP_039653; Note=No experimental confirmation available.; Name=3; IsoId=Q96LX7-2; Sequence=VSP_039651; 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=Q96LX7-3; Sequence=VSP_039652; Note=No experimental confirmation available.; 


