# annotation

uniprotID: Q5ZPR3
geneSymbol: CD276
name: CD276 antigen (4Ig-B7-H3) (B7 homolog 3) (B7-H3) (Costimulatory molecule) (CD antigen CD276)
length: 534
go: ENSG00000103855;
snps: rs7173448 rs7173476 rs11574477 rs11574479 rs11574483 rs10083681 rs148625372 rs7173476 rs11574479
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; signaling receptor binding [GO:0005102]; cell proliferation [GO:0008283]; immune response [GO:0006955]; positive regulation of interferon-gamma biosynthetic process [GO:0045078]; positive regulation of T cell proliferation [GO:0042102]; regulation of immune response [GO:0050776]; T cell activation [GO:0042110]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=4Ig-B7-H3; IsoId=Q5ZPR3-1; Sequence=Displayed; Note=Contains tandemly repeated immunoglobulin-like V and C domains.; Name=2; Synonyms=B7-H3; IsoId=Q5ZPR3-2; Sequence=VSP_017088; Note=Minor transcript. Contains one single set of immunoglobulin-like V and C domains.; Name=3; IsoId=Q5ZPR3-3; Sequence=VSP_017089, VSP_017090; Note=Contains tandemly repeated immunoglobulin-like V and C domains.; Name=4; IsoId=Q5ZPR3-4; Sequence=VSP_017091; Note=Contains tandemly repeated immunoglobulin-like V and C domains.; 


uniprotID: P01732
geneSymbol: CD8A
reactome: R-HSA-198933;
pdb: 1AKJ;1CD8;1Q69;2HP4;3QZW;
length: 235
go: ENSG00000153563;
snps: rs121918660
name:
T-cell surface glycoprotein CD8 alpha chain (T-lymphocyte differentiation antigen T8/Leu-2) (CD antigen CD8a)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; T cell receptor complex [GO:0042101]; coreceptor activity [GO:0015026]; MHC class I protein binding [GO:0042288]; protein kinase binding [GO:0019901]; antigen processing and presentation [GO:0019882]; cell surface receptor signaling pathway [GO:0007166]; cytotoxic T cell differentiation [GO:0045065]; immune response [GO:0006955]; regulation of immune response [GO:0050776]; T cell activation [GO:0042110]; T cell mediated immunity [GO:0002456]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=membrane, mCD8alpha; IsoId=P01732-1; Sequence=Displayed; Name=2; Synonyms=secreted, sCD8alpha; IsoId=P01732-2; Sequence=VSP_012653; Name=3; IsoId=P01732-3; Sequence=VSP_054438; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:1460019, ECO:0000269|PubMed:17341584, ECO:0000269|PubMed:17678538}; Single-pass type I membrane protein. Note=CD8A localizes to lipid rafts only when associated with its partner CD8B. {ECO:0000269|PubMed:17341584}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:7923932}.


uniprotID: Q96KX1
geneSymbol: C4orf36
name: Uncharacterized protein C4orf36
length: 117
go: ENSG00000163633;
snps: rs11938345 rs1550931
sequence:
MAYGVPRKNTVKTILRGSCYNVQEPWDIALLAKTWSTNLANIKLPFLEEISFGGSVQLTKCTTIKDGLLPSAESIKLEREYEVKRLCKLKCQENTSKEIQLLLRERPAGLRRPLPSK


uniprotID: Q96LM5
geneSymbol: C4orf45
name: Uncharacterized protein C4orf45
length: 186
go: ENSG00000164123;
snps: rs17037864 rs662473 rs17037858 rs619128 rs10517695
sequence:
MASVSYQKPTSTTVGKQMIFTGPDYIKDYLPKIHQHTSYVGEQHLALEKTGDLRYLWRPASNRSLPAKYKHEYVSEIGWRIPQYNFINKSRLGSGFHIKYEELSQASLDSITHRYQNPWQPKPHVLDMQGKQSRASFAWHMSAFEDTDQRNSKWAILVRQCKSSLPRASKPPKLPKLPKKEKKRKH


uniprotID: P15813
geneSymbol: CD1D
reactome: R-HSA-198933;
pdb: 1ZT4;2PO6;3HUJ;3SDX;3TZV;3U0P;3VWJ;3VWK;4EN3;4LHU;4MNG;4MQ7;4WO4;4WW2;4WWK;
name: Antigen-presenting glycoprotein CD1d (R3G1) (CD antigen CD1d)
length: 335
go: ENSG00000158473;
drug: DB04661;
snps: rs62621276
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endosome membrane [GO:0010008]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; beta-2-microglobulin binding [GO:0030881]; cell adhesion molecule binding [GO:0050839]; endogenous lipid antigen binding [GO:0030883]; exogenous lipid antigen binding [GO:0030884]; histone binding [GO:0042393]; lipid antigen binding [GO:0030882]; lipopeptide binding [GO:0071723]; 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]; detection of bacterium [GO:0016045]; heterotypic cell-cell adhesion [GO:0034113]; immune response [GO:0006955]; innate immune response [GO:0045087]; positive regulation of innate immune response [GO:0045089]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; positive regulation of T cell proliferation [GO:0042102]; regulation of immune response [GO:0050776]; T cell selection [GO:0045058]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11927549, ECO:0000269|PubMed:17475845, ECO:0000269|PubMed:9973405}; Single-pass type I membrane protein {ECO:0000305|PubMed:9973405}. Basolateral cell membrane {ECO:0000269|PubMed:9973405}; Single-pass type I membrane protein {ECO:0000305|PubMed:9973405}. Endosome membrane {ECO:0000269|PubMed:11927549, ECO:0000269|PubMed:9973405}; Single-pass type I membrane protein {ECO:0000305|PubMed:9973405}. Lysosome membrane {ECO:0000269|PubMed:17475845, ECO:0000269|PubMed:9973405}; Single-pass type I membrane protein {ECO:0000269|PubMed:9973405}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:11927549}; Single-pass type I membrane protein {ECO:0000269|PubMed:11927549}. Note=Subject to intracellular trafficking between the cell membrane, endosomes and lysosomes. {ECO:0000269|PubMed:9973405}.


uniprotID: Q8NHZ8
geneSymbol: CDC26
pdb: 3HYM;4UI9;5A31;5G04;5G05;5KHR;5KHU;5L9T;5L9U;5LCW;
sequence: MLRRKPTRLELKLDDIEEFENIRKDLETRKKQKEDVEVVGGSDGEGAIGLSSDPKSREQMINDRIGYKPQPKPNNRSSQFGSLEF
length: 85
go: ENSG00000176386;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Anaphase-promoting complex subunit CDC26 (Anaphase-promoting complex subunit 12) (APC12) (Cell division cycle protein 26 homolog)

opentargets:
anaphase-promoting complex [GO:0005680]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell cycle [GO:0007049]; cell division [GO:0051301]; protein K11-linked ubiquitination [GO:0070979]; regulation of mitotic metaphase/anaphase transition [GO:0030071]


uniprotID: Q9H425
geneSymbol: C1orf198
name: Uncharacterized protein C1orf198
length: 327
go: ENSG00000119280;
opentargets: cytosol [GO:0005829]
snps: rs34864456 rs35115679
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22361696}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H425-1; Sequence=Displayed; Name=2; IsoId=Q9H425-2; Sequence=VSP_044252; Name=3; IsoId=Q9H425-3; Sequence=VSP_046926; Note=No experimental confirmation available.; 


uniprotID: Q5VVC0
geneSymbol: C1orf146
name: Uncharacterized protein C1orf146
length: 180
sequence:
MAESGKEKIKWTTTIIISSSLKSYEVATALENRSHKVRYSDSVENGSIIFSLSGVAFLLMDTKECLLSTEEIFLAKIEKFINIHQNSFLVLSAALHGPEEWKLMFRIQQRFLGCNLRILPVHNTVNAINLMCTIAKTTSKPYIDSICYRMITAKAYIIEQSPVWKTLQKIKLNSDSVNPN


uniprotID: Q9H0H9
geneSymbol: CYP4F30P
name: Putative cytochrome P450 family member 4F30
length: 118
sequence:
MVTPAGCLGGRNQGPREIPGTAFPCSSRAGQTGQAVSGAQVSSWRERQPFGGSRGPLHILGTDGNVDTTGKLGLVPTPPRIQKETKQGALCGMKPPFLPEALLTVWWLPFVAVSLCLF


uniprotID: Q9BXU9
geneSymbol: CALN1
name: Calcium-binding protein 8 (CaBP8) (Calneuron I) (Calneuron-1)
length: 219
go: ENSG00000183166;
sequence:

opentargets:
integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; calcium ion binding [GO:0005509]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXU9-1; Sequence=Displayed; Name=2; IsoId=Q9BXU9-2; Sequence=VSP_047148; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000305|PubMed:19338761}; Single-pass type IV membrane protein {ECO:0000305|PubMed:19338761}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:19338761}. Cell membrane {ECO:0000305|PubMed:19338761}; Single-pass type IV membrane protein {ECO:0000305|PubMed:19338761}.


uniprotID: Q8N0U7
geneSymbol: C1orf87
name: Uncharacterized protein C1orf87
length: 546
go: ENSG00000162598;
snps: rs12737449 rs17120025 rs626251 rs35260089
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N0U7-1; Sequence=Displayed; Name=2; IsoId=Q8N0U7-2; Sequence=VSP_024541, VSP_024542; Note=No experimental confirmation available.; Name=3; IsoId=Q8N0U7-3; Sequence=VSP_024540; 


uniprotID: O75493
geneSymbol: CA11
length: 328
go: ENSG00000063180;
drug: DB00909;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Carbonic anhydrase-related protein 11 (CA-RP XI) (CA-XI) (CARP XI) (Carbonic anhydrase-related protein 2) (CA-RP II) (CARP-2)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; extracellular region [GO:0005576]; zinc ion binding [GO:0008270]


uniprotID: Q7Z3S7
geneSymbol: CACNA2D4
reactome: R-HSA-5576892;R-HSA-5576893;
length: 1137
go: ENSG00000151062;
snps: rs10735005 rs36077411 rs35331095
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Voltage-dependent calcium channel subunit alpha-2/delta-4 (Voltage-gated calcium channel subunit alpha-2/delta-4) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-4; Voltage-dependent calcium channel subunit delta-4]

sequence:

opentargets:
plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; metal ion binding [GO:0046872]; voltage-gated calcium channel activity [GO:0005245]; calcium ion transmembrane transport [GO:0070588]; detection of light stimulus involved in visual perception [GO:0050908]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Alpha2delta-4a; IsoId=Q7Z3S7-1; Sequence=Displayed; Name=2; IsoId=Q7Z3S7-2; Sequence=VSP_028070; Note=No experimental confirmation available. May be due to an intron retention.; Name=4; Synonyms=Alpha2delta-4b; IsoId=Q7Z3S7-4; Sequence=VSP_028069; Name=5; Synonyms=Alpha2delta-4c; IsoId=Q7Z3S7-5; Sequence=VSP_028071; Name=6; Synonyms=Alpha2delta-4d; IsoId=Q7Z3S7-6; Sequence=VSP_028069, VSP_028071; Name=7; IsoId=Q7Z3S7-7; Sequence=VSP_044107, VSP_044108, VSP_044109, VSP_044110; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9P0X4
geneSymbol: CACNA1I
reactome: R-HSA-419037;
length: 2223
go: ENSG00000100346;
drug: DB00568;DB04841;DB01388;DB00617;DB00421;DB00661;DB00909;
snps: rs136853 rs8141262 rs2294369 rs2294369
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Voltage-dependent T-type calcium channel subunit alpha-1I (Voltage-gated calcium channel subunit alpha Cav3.3) (Ca(v)3.3)

sequence:

opentargets:
plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; low voltage-gated calcium channel activity [GO:0008332]; voltage-gated calcium channel activity [GO:0005245]; calcium ion import [GO:0070509]; flagellated sperm motility [GO:0030317]; membrane depolarization during action potential [GO:0086010]; neuronal action potential [GO:0019228]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; regulation of ion transmembrane transport [GO:0034765]; signal transduction [GO:0007165]; sleep [GO:0030431]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Delta36b; IsoId=Q9P0X4-1; Sequence=Displayed; Name=2; IsoId=Q9P0X4-2; Sequence=VSP_000951; Name=3; Synonyms=Alpha1I-a; IsoId=Q9P0X4-3; Sequence=VSP_000950, VSP_000951; Name=4; IsoId=Q9P0X4-4; Sequence=VSP_000950; 


uniprotID: Q8N126
geneSymbol: CADM3
reactome: R-HSA-418990;R-HSA-420597;
pdb: 1Z9M;
length: 398
go: ENSG00000162706;
snps: rs3026987
name:
Cell adhesion molecule 3 (Brain immunoglobulin receptor) (Immunoglobulin superfamily member 4B) (IgSF4B) (Nectin-like protein 1) (NECL-1) (Synaptic cell adhesion molecule 3) (SynCAM3) (TSLC1-like protein 1) (TSLL1)

sequence:

opentargets:
cell-cell junction [GO:0005911]; integral component of presynaptic membrane [GO:0099056]; parallel fiber to Purkinje cell synapse [GO:0098688]; plasma membrane [GO:0005886]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; protein localization [GO:0008104]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N126-1; Sequence=Displayed; Name=2; IsoId=Q8N126-2; Sequence=VSP_017221; Name=3; IsoId=Q8N126-3; Sequence=VSP_022008; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q99N28}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q99N28}. Cell junction {ECO:0000250|UniProtKB:Q99N28}.


uniprotID: Q13111
geneSymbol: CHAF1A
length: 956
go: ENSG00000167670;
snps: rs35651457 rs2230635 rs8100525 rs9352 rs243383
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10052459}. Note=DNA replication foci.
name:
Chromatin assembly factor 1 subunit A (CAF-1 subunit A) (Chromatin assembly factor I p150 subunit) (CAF-I 150 kDa subunit) (CAF-I p150) (hp150)

sequence:

opentargets:
CAF-1 complex [GO:0033186]; nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; chromo shadow domain binding [GO:0070087]; identical protein binding [GO:0042802]; unfolded protein binding [GO:0051082]; cell cycle [GO:0007049]; chromatin assembly [GO:0031497]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA replication-dependent nucleosome assembly [GO:0006335]; nucleosome assembly [GO:0006334]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q13111-1; Sequence=Displayed; Name=2; IsoId=Q13111-2; Sequence=VSP_004149, VSP_004150; Name=3; IsoId=Q13111-3; Sequence=VSP_004151; 


uniprotID: P00918
geneSymbol: CA2
reactome: R-HSA-1237044;R-HSA-1247673;R-HSA-1475029;
length: 260
go: ENSG00000104267;
snps: rs118203931 rs118203933 rs118203932 rs2228063
pdb:
12CA;1A42;1AM6;1AVN;1BCD;1BIC;1BN1;1BN3;1BN4;1BNM;1BNN;1BNQ;1BNT;1BNU;1BNV;1BNW;1BV3;1CA2;1CA3;1CAH;1CAI;1CAJ;1CAK;1CAL;1CAM;1CAN;1CAO;1CAY;1CAZ;1CCS;1CCT;1CCU;1CIL;1CIM;1CIN;1CNB;1CNC;1CNG;1CNH;1CNI;1CNJ;1CNK;1CNW;1CNX;1CNY;1CRA;1CVA;1CVB;1CVC;1CVD;1CVE;1CVF;1CVH;1DCA;1DCB;1EOU;1F2W;1FQL;1FQM;1FQN;1FQR;1FR4;1FR7;1FSN;1FSQ;1FSR;1G0E;1G0F;1G1D;1G3Z;1G45;1G46;1G48;1G4J;1G4O;1G52;1G53;1G54;1H4N;1H9N;1H9Q;1HCA;1HEA;1HEB;1HEC;1HED;1HVA;1I8Z;1I90;1I91;1I9L;1I9M;1I9N;1I9O;1I9P;1I9Q;1IF4;1IF5;1IF6;1IF7;1IF8;1IF9;1KWQ;1KWR;1LG5;1LG6;1LGD;1LUG;1LZV;1MOO;1MUA;1OKL;1OKM;1OKN;1OQ5;1RAY;1RAZ;1RZA;1RZB;1RZC;1RZD;1RZE;1T9N;1TB0;1TBT;1TE3;1TEQ;1TEU;1TG3;1TG9;1TH9;1THK;1TTM;1UGA;1UGB;1UGC;1UGD;1UGE;1UGF;1UGG;1XEG;1XEV;1XPZ;1XQ0;1YDA;1YDB;1YDC;1YDD;1YO0;1YO1;1YO2;1Z9Y;1ZE8;1ZFK;1ZFQ;1ZGE;1ZGF;1ZH9;1ZSA;1ZSB;1ZSC;2ABE;2AW1;2AX2;2CA2;2CBA;2CBB;2CBC;2CBD;2CBE;2EU2;2EU3;2EZ7;2F14;2FMG;2FMZ;2FNK;2FNM;2FNN;2FOQ;2FOS;2FOU;2FOV;2GD8;2GEH;2H15;2H4N;2HD6;2HKK;2HL4;2HNC;2HOC;2ILI;2NNG;2NNO;2NNS;2NNV;2NWO;2NWP;2NWY;2NWZ;2NXR;2NXS;2NXT;2O4Z;2OSF;2OSM;2POU;2POV;2POW;2Q1B;2Q1Q;2Q38;2QO8;2QOA;2QP6;2VVA;2VVB;2WD2;2WD3;2WEG;2WEH;2WEJ;2WEO;2X7S;2X7T;2X7U;3B4F;3BET;3BL0;3BL1;3C7P;3CA2;3CAJ;3CYU;3D8W;3D92;3D93;3D9Z;3DAZ;3DBU;3DC3;3DC9;3DCC;3DCS;3DCW;3DD0;3DD8;3DV7;3DVB;3DVC;3DVD;3EFI;3EFT;3F4X;3F8E;3FFP;3GZ0;3HFP;3HKN;3HKQ;3HKT;3HKU;3HLJ;3HS4;3IBI;3IBL;3IBN;3IBU;3IEO;3IGP;3K2F;3K34;3K7K;3KIG;3KKX;3KNE;3KOI;3KOK;3KON;3KS3;3KWA;3L14;3M04;3M14;3M1J;3M1K;3M1Q;3M1W;3M2N;3M2X;3M2Y;3M2Z;3M3X;3M40;3M5E;3M5S;3M5T;3M67;3M96;3M98;3MHC;3MHI;3MHL;3MHM;3MHO;3ML2;3MMF;3MNA;3MNH;3MNI;3MNJ;3MNK;3MNU;3MWO;3MYQ;3MZC;3N0N;3N2P;3N3J;3N4B;3NB5;3NI5;3NJ9;3OIK;3OIL;3OIM;3OKU;3OKV;3OY0;3OYQ;3OYS;3P3H;3P3J;3P44;3P4V;3P55;3P58;3P5A;3P5L;3PJJ;3PO6;3PYK;3QYK;3R16;3R17;3RG3;3RG4;3RGE;3RJ7;3RLD;3RYJ;3RYV;3RYX;3RYY;3RYZ;3RZ0;3RZ1;3RZ5;3RZ7;3RZ8;3S71;3S72;3S73;3S74;3S75;3S76;3S77;3S78;3S8X;3S9T;3SAP;3SAX;3SBH;3SBI;3T5U;3T5Z;3T82;3T83;3T84;3T85;3TMJ;3TVN;3TVO;3U3A;3U45;3U47;3U7C;3V2J;3V2M;3V3F;3V3G;3V3H;3V3I;3V3J;3V5G;3V7X;3VBD;3ZP9;4BCW;4BF1;4BF6;4CA2;4CAC;4CQ0;4DZ7;4DZ9;4E3D;4E3F;4E3G;4E3H;4E49;4E4A;4E5Q;4FIK;4FL7;4FPT;4FRC;4FU5;4FVN;4FVO;4G0C;4GL1;4HBA;4HEW;4HEY;4HEZ;4HF3;4HT0;4IDR;4ILX;4ITO;4ITP;4IWZ;4JS6;4JSA;4JSS;4JSW;4JSZ;4K0S;4K0T;4K0Z;4K13;4K1Q;4KAP;4KNI;4KNJ;4KUV;4KUW;4KUY;4KV0;4L5U;4L5V;4L5W;4LHI;4LP6;4M2R;4M2U;4M2V;4M2W;4MDG;4MDL;4MDM;4MLT;4MLX;4MO8;4MTY;4N0X;4N16;4PQ7;4PXX;4PYX;4PYY;4PZH;4Q06;4Q07;4Q08;4Q09;4Q49;4Q6D;4Q6E;4Q78;4Q7P;4Q7S;4Q7V;4Q7W;4Q81;4Q83;4Q87;4Q8X;4Q8Y;4Q8Z;4Q90;4Q99;4Q9Y;4QEF;4QIY;4QJM;4QK1;4QK2;4QK3;4QSA;4QSB;4QSI;4QTL;4QY3;4R59;4R5A;4R5B;4RFC;4RFD;4RH2;4RIU;4RIV;4RN4;4RUX;4RUY;4RUZ;4WL4;4WW6;4XE1;4Y0J;4YGJ;4YGK;4YGL;4YGN;4YVY;4YWP;4YX4;4YXI;4YXO;4YXU;4YYT;4Z0Q;4Z1E;4Z1J;4Z1K;4Z1N;4ZAO;4ZWI;4ZWX;4ZWY;4ZWZ;4ZX0;4ZX1;5A6H;5AMD;5AMG;5AML;5BNL;5BRU;5BRV;5BRW;5BYI;5C8I;5CA2;5CAC;5CLU;5DOG;5DOH;5DRS;5DSI;5DSJ;5DSK;5DSL;5DSM;5DSN;5DSO;5DSP;5DSQ;5DSR;5E28;5E2K;5E2R;5E2S;5EH5;5EH7;5EH8;5EHE;5EHV;5EHW;5EIJ;5EKH;5EKJ;5EKM;5EOI;5FDC;5FDI;5FLO;5FLP;5FLQ;5FLR;5FLS;5FLT;5FNG;5FNH;5FNI;5FNJ;5FNK;5FNL;5FNM;5G01;5G03;5G0B;5G0C;5GMN;5J8Z;5JDV;5JE7;5JEG;5JEH;5JEP;5JES;5JG3;5JG5;5JGS;5JGT;5JMZ;5JN1;5JN3;5JN7;5JQ0;5JQT;5L3O;5L6K;5L6T;5L70;5L9E;5LJQ;5LJT;5LL4;5LL8;5LLC;5LLE;5LLG;5LLH;5LMD;5LVS;5M78;5MJN;5N0D;5N0E;5N1R;5N1S;5N24;5N25;5NEA;5NEE;5NXG;5NXI;5NXM;5NXO;5NXP;5NXV;5NXW;5NY1;5NY3;5NY6;5NYA;5O07;5OGN;5OGO;5OGP;5SZ0;5SZ1;5SZ2;5SZ3;5SZ4;5SZ5;5SZ6;5SZ7;5T71;5T72;5T74;5T75;5TFX;5TH4;5THI;5THJ;5THN;5TI0;5TXY;5TY1;5TY8;5TY9;5TYA;5U0D;5U0E;5U0F;5U0G;5ULN;5UMC;5VGY;5W8B;5WEX;5WG7;5WGP;5WLR;5WLT;5WLU;5WLV;5Y2R;5Y2S;5YUI;5YUJ;5YUK;5ZXW;6B4D;6B59;6B5A;6BBS;6BC9;6BCC;6C7W;6C7X;6CA2;6CEH;6CJV;6D1L;6D1M;6EQU;6H29;7CA2;8CA2;9CA2;

name:
Carbonic anhydrase 2 (EC 4.2.1.1) (Carbonate dehydratase II) (Carbonic anhydrase C) (CAC) (Carbonic anhydrase II) (CA-II)

sequence:

opentargets:
apical part of cell [GO:0045177]; axon [GO:0030424]; basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microvillus [GO:0005902]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; arylesterase activity [GO:0004064]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; angiotensin-activated signaling pathway [GO:0038166]; bicarbonate transport [GO:0015701]; carbon dioxide transport [GO:0015670]; cellular response to fluid shear stress [GO:0071498]; kidney development [GO:0001822]; morphogenesis of an epithelium [GO:0002009]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of bone resorption [GO:0045780]; positive regulation of cellular pH reduction [GO:0032849]; positive regulation of dipeptide transmembrane transport [GO:2001150]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of synaptic transmission, GABAergic [GO:0032230]; regulation of anion transport [GO:0044070]; regulation of chloride transport [GO:2001225]; regulation of intracellular pH [GO:0051453]; response to estrogen [GO:0043627]; response to pH [GO:0009268]; response to steroid hormone [GO:0048545]; response to zinc ion [GO:0010043]; secretion [GO:0046903]

drug:
DB03333;DB02479;DB03950;DB08659;DB08046;DB08156;DB04203;DB04394;DB08782;DB02429;DB01671;DB08202;DB01784;DB03385;DB03697;DB04002;DB00819;DB03877;DB04089;DB01964;DB03526;DB04371;DB02220;DB03221;DB02602;DB02535;DB00436;DB00562;DB01194;DB00880;DB02679;DB00606;DB02866;DB01119;DB01144;DB00869;DB08846;DB01031;DB00311;DB08157;DB01942;DB00695;DB00999;DB00774;DB08165;DB03975;DB00703;DB00232;DB02069;DB08301;DB03596;DB07476;DB01748;DB08155;DB07710;DB01325;DB09460;DB08329;DB00273;DB01021;DB03904;DB00909;

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15990874}. Cell membrane {ECO:0000269|PubMed:15990874}. Note=Colocalized with SLC26A6 at the surface of the cell membrane in order to form a bicarbonate transport metabolon. Displaced from the cytosolic surface of the cell membrane by PKC in phorbol myristate acetate (PMA)-induced cells.


uniprotID: O15484
geneSymbol: CAPN5
reactome: R-HSA-1474228;
name: Calpain-5 (EC 3.4.22.-) (Calpain htra-3) (New calpain 3) (nCL-3)
length: 640
go: ENSG00000149260;
snps: rs397514601 rs397514602
sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; synapse [GO:0045202]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; proteolysis [GO:0006508]; signal transduction [GO:0007165]


uniprotID: Q9ULB5
geneSymbol: CDH7
reactome: R-HSA-418990;
name: Cadherin-7
length: 785
go: ENSG00000081138;
snps: rs2306675 rs2291343
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:


uniprotID: P24311
geneSymbol: COX7B
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase subunit 7B, mitochondrial (Cytochrome c oxidase polypeptide VIIb)
sequence: MFPLVKSALNRLQVRSIQQTMARQSHQKRTPDFHDKYGNAVLASGATFCIVTWTYVATQVGIEWNLSPVGRVTPKEWRNQ
length: 80
go: ENSG00000131174;
drug: DB02659;DB04464;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}.
opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain [GO:0005746]; respiratory chain complex IV [GO:0045277]; cytochrome-c oxidase activity [GO:0004129]; central nervous system development [GO:0007417]


uniprotID: Q9UBR2
geneSymbol: CTSZ
reactome: R-HSA-2022377;R-HSA-204005;R-HSA-432720;R-HSA-5694530;R-HSA-6798695;
pdb: 1DEU;1EF7;
name: Cathepsin Z (EC 3.4.18.1) (Cathepsin P) (Cathepsin X)
length: 303
go: ENSG00000101160;
snps: rs778998634 rs34069356
location: SUBCELLULAR LOCATION: Lysosome.
sequence:

opentargets:
cell cortex region [GO:0099738]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; cytoplasmic vesicle [GO:0031410]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; Golgi membrane [GO:0000139]; growth cone [GO:0030426]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; specific granule lumen [GO:0035580]; carboxypeptidase activity [GO:0004180]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; angiotensin maturation [GO:0002003]; COPII vesicle coating [GO:0048208]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; ER to Golgi vesicle-mediated transport [GO:0006888]; negative regulation of neuron projection development [GO:0010977]; negative regulation of plasminogen activation [GO:0010757]; negative regulation of protein binding [GO:0032091]; neutrophil degranulation [GO:0043312]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of neuron apoptotic process [GO:0043525]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of neuron death [GO:1901214]


uniprotID: Q5BKX8
geneSymbol: CAVIN4
length: 364
go: ENSG00000170681;
name:
Caveolae-associated protein 4 (Muscle-related coiled-coil protein) (Muscle-restricted coiled-coil protein)

sequence:

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; Z disc [GO:0030018]; cell differentiation [GO:0030154]; muscle organ development [GO:0007517]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of gene expression [GO:0010468]; regulation of Rho protein signal transduction [GO:0035023]

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere {ECO:0000250|UniProtKB:A2AMM0}. Cytoplasm {ECO:0000250|UniProtKB:A2AMM0}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:A2AMM0}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:A2AMM0}. Membrane, caveola {ECO:0000269|PubMed:19525939}. Cell membrane {ECO:0000269|PubMed:26497963}. Note=In cardiomyocytes, accumulates in the Z-line of the sarcomere. In vascular smooth muscle cells, detected diffusely throughout the cytoplasm. Localizes in the caveolae in a caveolin-dependent manner. {ECO:0000250|UniProtKB:A2AMM0}.


uniprotID: Q8N163
geneSymbol: CCAR2
reactome: R-HSA-3371453;
length: 923
go: ENSG00000158941;
name:
Cell cycle and apoptosis regulator protein 2 (Cell division cycle and apoptosis regulator protein 2) (DBIRD complex subunit KIAA1967) (Deleted in breast cancer gene 1 protein) (DBC-1) (DBC.1) (NET35) (p30 DBC)

sequence:

opentargets:
cytoplasm [GO:0005737]; DBIRD complex [GO:0044609]; mitochondrial matrix [GO:0005759]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; enzyme binding [GO:0019899]; enzyme inhibitor activity [GO:0004857]; nuclear receptor transcription coactivator activity [GO:0030374]; RNA binding [GO:0003723]; RNA polymerase II complex binding [GO:0000993]; cell cycle [GO:0007049]; cellular response to DNA damage stimulus [GO:0006974]; mitochondrial fragmentation involved in apoptotic process [GO:0043653]; mRNA processing [GO:0006397]; negative regulation of catalytic activity [GO:0043086]; negative regulation of cell growth [GO:0030308]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of apoptotic process [GO:0043065]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of DNA damage checkpoint [GO:2000003]; regulation of cellular response to heat [GO:1900034]; regulation of circadian rhythm [GO:0042752]; regulation of DNA-templated transcription, elongation [GO:0032784]; regulation of protein deacetylation [GO:0090311]; regulation of protein stability [GO:0031647]; regulation of transcription, DNA-templated [GO:0006355]; response to UV [GO:0009411]; rhythmic process [GO:0048511]; RNA splicing [GO:0008380]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N163-1; Sequence=Displayed; Name=2; IsoId=Q8N163-2; Sequence=VSP_017092; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20074560, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:23352644, ECO:0000269|PubMed:24824780, ECO:0000269|PubMed:24962073, ECO:0000269|PubMed:25661920}. Cytoplasm {ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:24824780}. Note=Recruited to chromatin, post-UV irradiation. Sequestered to the cytoplasm in the presence of MCC. Translocated to the cytoplasm during UV-induced apoptosis. {ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:24824780}.


uniprotID: Q8WUD4
geneSymbol: CCDC12
name: Coiled-coil domain-containing protein 12
length: 166
go: ENSG00000160799;
sequence:
MEATTAGVGRLEEEALRRKERLKALREKTGRKDKEDGEPKTKHLREEEEEGEKHRELRLRNYVPEDEDLKKRRVPQAKPVAVEEKVKEQLEAAKPEPVIEEVDLANLAPRKPDWDLKRDVAKKLEKLKKRTQRAIAELIRERLKGQEDSLASAVDAATEQKTCDSD


uniprotID: P20248
geneSymbol: CCNA2
name: Cyclin-A2 (Cyclin-A) (Cyclin A)
length: 432
go: ENSG00000145386;
snps: rs769242
reactome:
R-HSA-1362300;R-HSA-1538133;R-HSA-170145;R-HSA-174184;R-HSA-176408;R-HSA-187577;R-HSA-2559582;R-HSA-2559586;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;

pdb:
1E9H;1FIN;1FVV;1GY3;1H1P;1H1Q;1H1R;1H1S;1H24;1H25;1H26;1H27;1H28;1JST;1JSU;1OGU;1OI9;1OIU;1OIY;1OKV;1OKW;1OL1;1OL2;1P5E;1PKD;1QMZ;1URC;1VYW;2BKZ;2BPM;2C4G;2C5N;2C5O;2C5V;2C5X;2C6T;2CCH;2CCI;2CJM;2I40;2IW6;2IW8;2IW9;2UUE;2UZB;2UZD;2UZE;2UZL;2V22;2WEV;2WFY;2WHB;2WIH;2WIP;2WMA;2WMB;2WPA;2WXV;2X1N;3EID;3EJ1;3EOC;3F5X;4BCK;4BCM;4BCN;4BCP;4CFM;4CFN;4CFU;4CFV;4CFW;4CFX;4EOI;4EOJ;4EOK;4EOL;4EOM;4EON;4EOO;4EOP;4EOQ;4EOR;4EOS;4FX3;5CYI;5IF1;5LMK;5NEV;6ATH;

sequence:

opentargets:
cyclin A2-CDK2 complex [GO:0097124]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; female pronucleus [GO:0001939]; male pronucleus [GO:0001940]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; animal organ regeneration [GO:0031100]; cell cycle G1/S phase transition [GO:0044843]; cell division [GO:0051301]; cellular response to cocaine [GO:0071314]; cellular response to estradiol stimulus [GO:0071392]; cellular response to hypoxia [GO:0071456]; cellular response to insulin-like growth factor stimulus [GO:1990314]; cellular response to leptin stimulus [GO:0044320]; cellular response to luteinizing hormone stimulus [GO:0071373]; cellular response to nitric oxide [GO:0071732]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; cochlea development [GO:0090102]; G2/M transition of mitotic cell cycle [GO:0000086]; histone phosphorylation [GO:0016572]; mitotic cell cycle [GO:0000278]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of transcription, DNA-templated [GO:0045893]; protein deubiquitination [GO:0016579]; Ras protein signal transduction [GO:0007265]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of DNA replication [GO:0006275]; regulation of mitotic nuclear division [GO:0007088]; response to glucagon [GO:0033762]; viral process [GO:0016032]

drug:
DB08463;DB07137;DB06948;DB08248;DB08309;DB08241;DB08572;DB07203;DB08233;DB02407;DB02833;DB06944;DB07126;

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:1312467, ECO:0000269|PubMed:17698606}. Cytoplasm {ECO:0000269|PubMed:1312467, ECO:0000269|PubMed:17698606}. Note=Exclusively nuclear during interphase (PubMed:1312467). Detected in the nucleus and the cytoplasm at prophase (PubMed:1312467). Cytoplasmic when associated with SCAPER (PubMed:17698606). {ECO:0000269|PubMed:1312467, ECO:0000269|PubMed:17698606}.


uniprotID: O14523
geneSymbol: C2CD2L
pdb: 5TOD;
length: 706
go: ENSG00000172375;
snps: rs2239896
name:
Phospholipid transfer protein C2CD2L (C2 domain-containing protein 2-like) (C2CD2-like) (Transmembrane protein 24)

sequence:

opentargets:
cortical endoplasmic reticulum [GO:0032541]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; insulin binding [GO:0043559]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol transporter activity [GO:0008526]; phospholipid transporter activity [GO:0005548]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14523-1; Sequence=Displayed; Name=2; IsoId=O14523-2; Sequence=VSP_021158; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:28209843}; Single-pass membrane protein {ECO:0000269|PubMed:28209843}. Cell membrane {ECO:0000269|PubMed:28209843}; Peripheral membrane protein {ECO:0000269|PubMed:28209843}. Note=Localizes to sites of contact between the endoplasmic reticulum and the cell membrane (PubMed:28209843). Embedded into the endoplamic reticulum membrane via its N-terminal transmembrane domain and associates with cell membrane via its C-terminus (PubMed:28209843). In response to elevation of cytosolic Ca(2+), it is phosphorylated at its C-terminus and dissociates from the cell membrane and localizes to the reticular endoplamic reticulum (PubMed:28209843). Reassociates with cell membrane upon dephosphorylation (PubMed:28209843). {ECO:0000269|PubMed:28209843}.


uniprotID: P04003
geneSymbol: C4BPA
reactome: R-HSA-977606;
pdb: 2A55;4B0F;5HYP;5HYT;5HYU;5HZP;5I0Q;
name: C4b-binding protein alpha chain (C4bp) (Proline-rich protein) (PRP)
length: 597
go: ENSG00000123838;
snps: rs55867570 rs17020956 rs45574833 rs4844573 rs1801341
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; other organism cell [GO:0044216]; plasma membrane [GO:0005886]; RNA binding [GO:0003723]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; negative regulation of complement activation, classical pathway [GO:0045959]; positive regulation of protein catabolic process [GO:0045732]; regulation of complement activation [GO:0030449]; regulation of opsonization [GO:1903027]


uniprotID: Q8N8Q1
geneSymbol: CYB561D1
name: Cytochrome b561 domain-containing protein 1
length: 229
go: ENSG00000174151;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; metal ion binding [GO:0046872]; oxidation-reduction process [GO:0055114]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N8Q1-1; Sequence=Displayed; Name=2; IsoId=Q8N8Q1-2; Sequence=VSP_038649, VSP_038650; Name=3; IsoId=Q8N8Q1-3; Sequence=VSP_041162; Name=4; IsoId=Q8N8Q1-4; Sequence=VSP_046986; Note=Gene prediction based on EST data.; Name=5; IsoId=Q8N8Q1-5; Sequence=VSP_046985; Note=Gene prediction based on EST data.; 


uniprotID: Q9BWL3
geneSymbol: C1orf43
length: 253
go: ENSG00000143612;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Uncharacterized protein C1orf43 (Hepatitis C virus NS5A-transactivated protein 4) (HCV NS5A-transactivated protein 4) (Protein NICE-3) (S863-3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BWL3-1; Sequence=Displayed; Name=2; Synonyms=Nice-3; IsoId=Q9BWL3-2; Sequence=VSP_014417; Name=3; IsoId=Q9BWL3-3; Sequence=VSP_014421; Name=4; IsoId=Q9BWL3-4; Sequence=VSP_014417, VSP_014418; Name=5; IsoId=Q9BWL3-5; Sequence=VSP_014418, VSP_014419, VSP_014420; 


uniprotID: Q9P1Z2
geneSymbol: CALCOCO1
length: 691
go: ENSG00000012822;
snps: rs3741659
name:
Calcium-binding and coiled-coil domain-containing protein 1 (Calphoglin) (Coiled-coil coactivator protein) (Sarcoma antigen NY-SAR-3)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; armadillo repeat domain binding [GO:0070016]; beta-catenin binding [GO:0008013]; chromatin binding [GO:0003682]; nuclear receptor transcription coactivator activity [GO:0030374]; protein C-terminus binding [GO:0008022]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; transcription regulatory region DNA binding [GO:0044212]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; signal transduction [GO:0007165]; transcription, DNA-templated [GO:0006351]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9P1Z2-1; Sequence=Displayed; Name=2; IsoId=Q9P1Z2-2; Sequence=VSP_029053; Name=3; IsoId=Q9P1Z2-3; Sequence=VSP_029052; Note=No experimental confirmation available.; Name=4; IsoId=Q9P1Z2-4; Sequence=VSP_041471, VSP_041472; Note=No experimental confirmation available.; 

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


uniprotID: P27824
geneSymbol: CANX
reactome: R-HSA-168316;R-HSA-2132295;R-HSA-8984722;R-HSA-901042;R-HSA-9020956;R-HSA-983170;
name: Calnexin (IP90) (Major histocompatibility complex class I antigen-binding protein p88) (p90)
length: 592
go: ENSG00000127022;
drug: DB00025;DB00031;
sequence:

opentargets:
axon [GO:0030424]; dendrite cytoplasm [GO:0032839]; dendritic spine [GO:0043197]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum quality control compartment [GO:0044322]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic active zone membrane [GO:0099059]; melanosome [GO:0042470]; membrane [GO:0016020]; Mitochondria-associated ER Membrane [GO:0044233]; myelin sheath [GO:0043209]; neuronal cell body [GO:0043025]; ribosome [GO:0005840]; rough endoplasmic reticulum [GO:0005791]; smooth endoplasmic reticulum [GO:0005790]; apolipoprotein binding [GO:0034185]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; ionotropic glutamate receptor binding [GO:0035255]; RNA binding [GO:0003723]; unfolded protein binding [GO:0051082]; aging [GO:0007568]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; chaperone-mediated protein folding [GO:0061077]; clathrin-dependent endocytosis [GO:0072583]; interleukin-27-mediated signaling pathway [GO:0070106]; interleukin-35-mediated signaling pathway [GO:0070757]; protein folding [GO:0006457]; protein folding in endoplasmic reticulum [GO:0034975]; protein secretion [GO:0009306]; synaptic vesicle endocytosis [GO:0048488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P27824-1; Sequence=Displayed; Name=2; IsoId=P27824-2; Sequence=VSP_055516; Note=No experimental confirmation available.; Name=3; IsoId=P27824-3; Sequence=VSP_055515; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22314232}; Single-pass type I membrane protein {ECO:0000255}. Endoplasmic reticulum {ECO:0000269|PubMed:22314232}. Melanosome {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:12643545, PubMed:17081065). The palmitoylated form preferentially localizes to the perinuclear rough ER (PubMed:22314232). {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:22314232}.


uniprotID: Q9Y6Q1
geneSymbol: CAPN6
reactome: R-HSA-1474228;
name: Calpain-6 (Calpain-like protease X-linked) (Calpamodulin) (CalpM)
length: 641
go: ENSG00000077274;
snps: rs12013711 rs12851517
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; spindle microtubule [GO:0005876]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; microtubule binding [GO:0008017]; microtubule bundle formation [GO:0001578]; proteolysis [GO:0006508]; regulation of cytoskeleton organization [GO:0051493]

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:17210638}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:17210638}. Note=During mitose associated with the mitotic spindle. At telophase colocalized to the midbody spindle.


uniprotID: O14815
geneSymbol: CAPN9
reactome: R-HSA-1474228;
pdb: 1ZIV;2P0R;
name: Calpain-9 (EC 3.4.22.-) (Digestive tract-specific calpain) (New calpain 4) (nCL-4) (Protein CG36)
length: 690
go: ENSG00000135773;
sequence:

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

snps:
rs12562749 rs28359608 rs28359632 rs28359644 rs28359647 rs28359655 rs1933631 rs28359684 rs16852652 rs28359688 rs12731961 rs16852683 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14815-1; Sequence=Displayed; Name=2; Synonyms=CG36; IsoId=O14815-2; Sequence=VSP_007553; 


uniprotID: O95810
geneSymbol: CAVIN2
length: 425
go: ENSG00000168497;
snps: rs35012125
name:
Caveolae-associated protein 2 (Cavin-2) (PS-p68) (Phosphatidylserine-binding protein) (Serum deprivation-response protein)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; caveola [GO:0005901]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane raft [GO:0045121]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; phosphatidylserine binding [GO:0001786]; phospholipid binding [GO:0005543]; protein kinase C binding [GO:0005080]; plasma membrane tubulation [GO:0097320]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10191091, ECO:0000269|PubMed:2390065}. Membrane, caveola {ECO:0000269|PubMed:19262564, ECO:0000269|PubMed:19525939}. Note=Localizes in the caveolae in a caveolin-dependent manner. {ECO:0000269|PubMed:19262564}.


uniprotID: Q969G5
geneSymbol: CAVIN3
length: 261
go: ENSG00000170955;
snps: rs2682123 rs10839551 rs1051992 rs12294600
name:
Caveolae-associated protein 3 (Cavin-3) (Protein kinase C delta-binding protein) (Serum deprivation response factor-related gene product that binds to C-kinase) (hSRBC)

sequence:

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; protein-containing complex [GO:0032991]; protein kinase C binding [GO:0005080]; circadian regulation of gene expression [GO:0032922]; cortical actin cytoskeleton organization [GO:0030866]; negative regulation of fermentation [GO:1901003]; negative regulation of protein kinase B signaling [GO:0051898]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q91VJ2}. Membrane, caveola {ECO:0000269|PubMed:19262564}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q91VJ2}. Note=Localizes in the caveolae in a caveolin-dependent manner. {ECO:0000269|PubMed:19262564}.


uniprotID: A0A1B0GUA6
geneSymbol: CCDC195
name: Putative coiled-coil domain-containing protein 195
length: 201
go: ENSG00000283428;
sequence:


uniprotID: Q8TDN4
geneSymbol: CABLES1
reactome: R-HSA-69202;R-HSA-69656;R-HSA-983231;
name: CDK5 and ABL1 enzyme substrate 1 (Interactor with CDK3 1) (Ik3-1)
length: 633
go: ENSG00000134508;
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; cell cycle [GO:0007049]; cell division [GO:0051301]; regulation of cell cycle [GO:0051726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TDN4-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8TDN4-2; Sequence=VSP_012696, VSP_012697; Name=3; IsoId=Q8TDN4-3; Sequence=VSP_012695; Name=4; IsoId=Q8TDN4-4; Sequence=VSP_045014; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Located in the cell body and proximal region of the developing axonal shaft of immature neurons. Located in axonal growth cone, but not in the distal part of the axon shaft or in dendritic growth cone of mature neurons (By similarity). {ECO:0000250}.


uniprotID: Q9BTV7
geneSymbol: CABLES2
reactome: R-HSA-983231;
name: CDK5 and ABL1 enzyme substrate 2 (Interactor with CDK3 2) (Ik3-2)
length: 478
go: ENSG00000149679;
opentargets: cell cycle [GO:0007049]; cell division [GO:0051301]; regulation of cell cycle [GO:0051726]
snps: rs6089219
sequence:


uniprotID: Q96CD2
geneSymbol: PPCDC
reactome: R-HSA-196783;
pdb: 1QZU;
name: Phosphopantothenoylcysteine decarboxylase (PPC-DC) (EC 4.1.1.36) (CoaC)
length: 204
go: ENSG00000138621;
drug: DB03738;DB03247;
snps: rs2304899
sequence:

opentargets:
cytosol [GO:0005829]; identical protein binding [GO:0042802]; phosphopantothenoylcysteine decarboxylase activity [GO:0004633]; coenzyme A biosynthetic process [GO:0015937]; coenzyme biosynthetic process [GO:0009108]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96CD2-1; Sequence=Displayed; Name=2; IsoId=Q96CD2-2; Sequence=VSP_044802; Note=The Met-1 codon is associated with a polymorphism (dbSNP:rs2304899) that replaces the initiation ATG codon by an ATA codon.; 


uniprotID: Q8N1D5
geneSymbol: C1orf158
name: Uncharacterized protein C1orf158
length: 194
snps: rs1132185
sequence:
MFLTAVNPQPLSTPSWQIETKYSTKVLTGNWMEERRKFTRDTDKTPQSIYRKEYIPFPDHRPDQISRWYGKRKVEGLPYKHLITHHQEPPHRYLISTYDDHYNRHGYNPGLPPLRTWNGQKLLWLPEKSDFPLLAPPTNYGLYEQLKQRQLTPKAGLKQSTYTSSYPRPPLCAMSWREHAVPVPPHRLHPFPHF


uniprotID: Q96HA4
geneSymbol: C1orf159
name: Uncharacterized protein C1orf159
length: 380
go: ENSG00000131591;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96HA4-1; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=2; IsoId=Q96HA4-2; Sequence=VSP_021281, VSP_021282, VSP_021285; Note=No experimental confirmation available.; Name=3; IsoId=Q96HA4-3; Sequence=VSP_021281, VSP_021284, VSP_021286; Note=No experimental confirmation available.; Name=4; IsoId=Q96HA4-4; Sequence=VSP_021281, VSP_021283; Note=No experimental confirmation available.; Name=5; IsoId=Q96HA4-5; Sequence=VSP_021280; Note=No experimental confirmation available.; 


uniprotID: P57796
geneSymbol: CABP4
name: Calcium-binding protein 4 (CaBP4)
length: 275
go: ENSG00000175544;
snps: rs121917828
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; synapse [GO:0045202]; terminal bouton [GO:0043195]; calcium channel regulator activity [GO:0005246]; calcium ion binding [GO:0005509]; ion channel binding [GO:0044325]; photoreceptor cell morphogenesis [GO:0008594]; phototransduction [GO:0007602]; retinal bipolar neuron differentiation [GO:0060040]; retinal cone cell development [GO:0046549]; signal transduction [GO:0007165]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P57796-1; Sequence=Displayed; Name=2; IsoId=P57796-2; Sequence=VSP_012700, VSP_012701; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19338761}. Note=Found in rod spherules and cone pedicles of the presynapses from both types of photoreceptors. {ECO:0000250}.


uniprotID: Q9NP86
geneSymbol: CABP5
name: Calcium-binding protein 5 (CaBP5)
length: 173
go: ENSG00000105507;
opentargets: cytosol [GO:0005829]; calcium ion binding [GO:0005509]; signal transduction [GO:0007165]
snps: rs34862923 rs8105198 rs3745746 rs34681062 rs10425606
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19338761}.
sequence:
MQFPMGPACIFLRKGIAEKQRERPLGQDEIEELREAFLEFDKDRDGFISCKDLGNLMRTMGYMPTEMELIELGQQIRMNLGGRVDFDDFVELMTPKLLAETAGMIGVQEMRDAFKEFDTNGDGEITLVELQQAMQRLLGERLTPREISEVVREADVNGDGTVDFEEFVKMMSR


uniprotID: Q9Y2D0
geneSymbol: CA5B
reactome: R-HSA-1475029;
length: 317
go: ENSG00000169239;
drug: DB08846;DB00909;
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Carbonic anhydrase 5B, mitochondrial (EC 4.2.1.1) (Carbonate dehydratase VB) (Carbonic anhydrase VB) (CA-VB)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; bicarbonate transport [GO:0015701]; response to bacterium [GO:0009617]


uniprotID: Q8N1Q1
geneSymbol: CA13
reactome: R-HSA-1475029;
pdb: 3CZV;3D0N;3DA2;4HU1;4KNM;4KNN;4QIZ;4QJP;4QJX;4QSJ;5E2N;5LLA;5LLN;5OGJ;5OHH;
name: Carbonic anhydrase 13 (EC 4.2.1.1) (Carbonate dehydratase XIII) (Carbonic anhydrase XIII) (CA-XIII)
length: 262
go: ENSG00000185015;
drug: DB00909;
snps: rs4740046
sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; myelin sheath [GO:0043209]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; bicarbonate transport [GO:0015701]


uniprotID: Q13698
geneSymbol: CACNA1S
reactome: R-HSA-419037;R-HSA-5576892;R-HSA-5576893;
pdb: 2VAY;6B27;
length: 1873
go: ENSG00000081248;
name:
Voltage-dependent L-type calcium channel subunit alpha-1S (Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle) (Voltage-gated calcium channel subunit alpha Cav1.1)

sequence:

opentargets:
cytoplasm [GO:0005737]; I band [GO:0031674]; L-type voltage-gated calcium channel complex [GO:1990454]; plasma membrane [GO:0005886]; T-tubule [GO:0030315]; voltage-gated calcium channel complex [GO:0005891]; calmodulin binding [GO:0005516]; 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]; cellular response to caffeine [GO:0071313]; muscle contraction [GO:0006936]; regulation of ion transmembrane transport [GO:0034765]

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

snps:
rs12406479 rs12742169 rs80338778 rs80338777 rs1800559 rs28930069 rs28930068 rs3850625 rs13374149 rs12139527 rs1042379 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P07293}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P07293}. Note=Detected on T-tubules (extensions of the sarcolemma). {ECO:0000250|UniProtKB:P07293}.


uniprotID: P10092
geneSymbol: CALCB
reactome: R-HSA-418555;R-HSA-419812;
length: 127
go: ENSG00000175868;
drug: DB05760;
location: SUBCELLULAR LOCATION: Secreted.
name:
Calcitonin gene-related peptide 2 (Beta-type CGRP) (Beta-CGRP) (Calcitonin gene-related peptide II) (CGRP-II)

sequence:
MGFRKFSPFLALSILVLYQAGSLQAAPFRSALESSPDPATLSKEDARLLLAALVQDYVQMKASELKQEQETQGSSSAAQKRACNTATCVTHRLAGLLSRSGGMVKSNFVPTNVGSKAFGRRRRDLQA

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; calcitonin receptor binding [GO:0031716]; neuropeptide hormone activity [GO:0005184]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cellular calcium ion homeostasis [GO:0006874]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of cytosolic calcium ion concentration [GO:0051480]; signal transduction [GO:0007165]


uniprotID: Q13112
geneSymbol: CHAF1B
length: 559
go: ENSG00000159259;
snps: rs74900401
name:
Chromatin assembly factor 1 subunit B (CAF-1 subunit B) (Chromatin assembly factor I p60 subunit) (CAF-I 60 kDa subunit) (CAF-I p60) (M-phase phosphoprotein 7)

sequence:

opentargets:
CAF-1 complex [GO:0033186]; cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; unfolded protein binding [GO:0051082]; cell cycle [GO:0007049]; chromatin assembly [GO:0031497]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA replication-dependent nucleosome assembly [GO:0006335]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9614144}. Cytoplasm {ECO:0000269|PubMed:9614144}. Note=DNA replication foci. Cytoplasmic in M phase.


uniprotID: Q86Y37
geneSymbol: CACUL1
name: CDK2-associated and cullin domain-containing protein 1 (Cdk-associated cullin1)
length: 369
go: ENSG00000151893;
sequence:

opentargets:
protein kinase binding [GO:0019901]; ubiquitin protein ligase binding [GO:0031625]; G1/S transition of mitotic cell cycle [GO:0000082]; positive regulation of cell proliferation [GO:0008284]; positive regulation of protein kinase activity [GO:0045860]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86Y37-1; Sequence=Displayed; Name=2; IsoId=Q86Y37-2; Sequence=VSP_013936, VSP_013937; Name=4; IsoId=Q86Y37-4; Sequence=VSP_013933; 


uniprotID: Q9H251
geneSymbol: CDH23
pdb: 2KBR;2KBS;2LSR;5TFM;5VVM;5WJ8;
name: Cadherin-23 (Otocadherin)
length: 3354
go: ENSG00000107736;
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; stereocilium [GO:0032420]; calcium ion binding [GO:0005509]; calcium ion transport [GO:0006816]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; equilibrioception [GO:0050957]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; inner ear receptor cell stereocilium organization [GO:0060122]; locomotory behavior [GO:0007626]; photoreceptor cell maintenance [GO:0045494]; regulation of cytosolic calcium ion concentration [GO:0051480]; response to stimulus [GO:0050896]; sensory perception of light stimulus [GO:0050953]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]

snps:
rs7902757 rs751192273 rs1057519500 rs369624952 rs199514829 rs121908354 rs121908355 rs1451062499 rs143282422 rs2305207 rs767928788 rs1227049 rs10999947 rs550384315 rs181255269 rs756147087 rs111033458 rs771766431 rs370107953 rs201536811 rs368487578 rs41281310 rs562052236 rs41281314 rs41281316 rs1364542092 rs121908351 rs41281318 rs1227065 rs756231829 rs56181447 rs121908347 rs373480195 rs1227051 rs137937502 rs41281330 rs749678546 rs17712523 rs181611778 rs564555435 rs3802711 rs74145660 rs143993990 rs746323558 rs983665281 rs397517340 rs121908352 rs368828743 rs397517344 rs11592462 rs750880909 rs10466026 rs121908348 rs201887949 rs1270566026 rs16929354 rs778453484 rs41281334 rs4747194 rs9663920 rs4747195 rs141986620 rs759093040 rs781406146 rs41281338 rs202052174 rs376189742 rs201076440 rs3802707 rs760130862 rs752937051 rs756793995 rs751367894 rs765847991 rs780514498 rs45583140 rs770796134 rs140884994 rs121908353 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9H251-1; Sequence=Displayed; Name=2; IsoId=Q9H251-2; Sequence=VSP_000645; Name=3; IsoId=Q9H251-3; Sequence=VSP_000646; Name=4; IsoId=Q9H251-4; Sequence=VSP_000647; Name=5; IsoId=Q9H251-5; Sequence=VSP_013268, VSP_013269; Name=6; IsoId=Q9H251-6; Sequence=VSP_035289, VSP_035290; Note=No experimental confirmation available.; Name=7; Synonyms=B1; IsoId=Q9H251-7; Sequence=VSP_044260; Name=8; IsoId=Q9H251-8; Sequence=VSP_044261, VSP_000645; Note=No experimental confirmation available.; Name=9; Synonyms=B2; IsoId=Q9H251-9; Sequence=VSP_044260, VSP_000647; Name=10; Synonyms=C1; IsoId=Q9H251-10; Sequence=VSP_047923, VSP_047924; Name=11; Synonyms=C2; IsoId=Q9H251-11; Sequence=VSP_047923, VSP_047924, VSP_000647; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: Q6PII3
geneSymbol: CCDC174
name: Coiled-coil domain-containing protein 174
length: 467
go: ENSG00000154781;
opentargets: nucleoplasm [GO:0005654]; nucleus [GO:0005634]
snps: rs60239620
sequence:

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26358778}. Note=In the nucleus of neuroblastoma cells, it colocalizes with EIF4A3, a component of exon junction complex. {ECO:0000269|PubMed:26358778}.


uniprotID: Q5BJE1
geneSymbol: CCDC178
name: Coiled-coil domain-containing protein 178
length: 867
go: ENSG00000166960;
snps: rs12606658 rs58448816 rs9965081 rs457896 rs466113
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5BJE1-1; Sequence=Displayed; Name=2; IsoId=Q5BJE1-2; Sequence=VSP_017257; Note=No experimental confirmation available.; Name=3; IsoId=Q5BJE1-3; Sequence=VSP_017258; Note=No experimental confirmation available.; Name=4; IsoId=Q5BJE1-4; Sequence=VSP_053415; Note=No experimental confirmation available.; 


uniprotID: Q8NCU7
geneSymbol: C2CD4A
name: C2 calcium-dependent domain-containing protein 4A (Nuclear-localized factor 1) (Protein FAM148A)
length: 369
go: ENSG00000198535;
opentargets: nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15527968}.
sequence:


uniprotID: A6NLJ0
geneSymbol: C2CD4B
name: C2 calcium-dependent domain-containing protein 4B (Nuclear-localized factor 2) (Protein FAM148B)
length: 364
go: ENSG00000205502;
opentargets: nucleus [GO:0005634]
snps: rs8040712 rs1055090
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15527968}.
sequence:


uniprotID: Q8TF44
geneSymbol: C2CD4C
name: C2 calcium-dependent domain-containing protein 4C (Nuclear-localized factor 3) (Protein FAM148C)
length: 421
go: ENSG00000183186;
opentargets: cytosol [GO:0005829]
sequence:


uniprotID: Q9Y426
geneSymbol: C2CD2
name: C2 domain-containing protein 2 (Transmembrane protein 24-like)
length: 696
go: ENSG00000157617;
opentargets: cytosol [GO:0005829]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]
snps: rs2839421 rs9981024
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y426-1; Sequence=Displayed; Name=2; IsoId=Q9Y426-2; Sequence=VSP_041071; Name=3; IsoId=Q9Y426-3; Sequence=VSP_041072; Note=No experimental confirmation available.; 


uniprotID: Q5T5A4
geneSymbol: C1orf194
name: Uncharacterized protein C1orf194
length: 169
go: ENSG00000179902;
sequence:
MPPTRDPFQQPTLDNDDSYLGELRASKKLPYKNPTHLAQQQEPWSRLNSTPTITSMRRDAYYFDPEIPKDDLDFRLAALYNHHTGTFKNKSEILLNQKTTQDTYRTKIQFPGEFLTPPTPPITFLANIRHWINPKKESIHSIQGSIVSPHTAATNGGYSRKKDGGFFST

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T5A4-1; Sequence=Displayed; Name=2; IsoId=Q5T5A4-2; Sequence=VSP_027993; 


uniprotID: Q5TG92
geneSymbol: C1orf195
name: Putative uncharacterized protein C1orf195
length: 126
sequence:
MPSSTLTCKPFDLKQRSSRRGPKSTASASPRSCLKPSCGKQVCLLLSVRRSQSLAHPGRDSTRVLSYQQTSSDAVSQYKHTGKVEELYGLRLSWLSQAQFLLAQDKTAYAVKSVVLPASNHKTKGQ

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TG92-1; Sequence=Displayed; Name=2; IsoId=Q5TG92-2; Sequence=VSP_032857; Note=No experimental confirmation available.; 


uniprotID: B1AJZ1
geneSymbol: C1orf196
name: Putative uncharacterized protein C1orf196
length: 125
sequence:
MTNTKDPKRAMESTLATSNSATGPVTFSHVFGQQCQLMQAAVQSLHTLNDQISHFIVTKSKALEEDKDPFLPTEKETLKSSMILMRHLLMDAQVQRSIQKFSMEKVESFFLFGISCPKMFNYHTY


uniprotID: Q9H8G2
geneSymbol: CAAP1
name: Caspase activity and apoptosis inhibitor 1 (Conserved anti-apoptotic protein) (CAAP)
length: 361
go: ENSG00000120159;
snps: rs12342214
sequence:

opentargets:
apoptotic process [GO:0006915]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:2001268]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H8G2-1; Sequence=Displayed; Name=2; IsoId=Q9H8G2-2; Sequence=VSP_044253; 


uniprotID: Q6ZSJ8
geneSymbol: C1orf122
name: Uncharacterized protein C1orf122 (Protein ALAESM)
length: 110
go: ENSG00000197982;
sequence:
MEWGPGSDWSRGEAAGVDRGKAGLGLGGRPPPQPPREERAQQLLDAVEQRQRQLLDTIAACEEMLRQLGRRRPEPAGGGNVSAKPGAPPQPAVSARGGFPKDAGDGAAEP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZSJ8-1; Sequence=Displayed; Name=2; IsoId=Q6ZSJ8-2; Sequence=VSP_046648; Note=No experimental confirmation available.; 


uniprotID: Q9NY47
geneSymbol: CACNA2D2
reactome: R-HSA-112308;R-HSA-400042;R-HSA-422356;R-HSA-5576892;R-HSA-5576893;
length: 1150
go: ENSG00000007402;
drug: DB01118;DB01244;DB01023;DB00996;DB00270;DB01054;DB00421;DB04922;
snps: rs35497591 rs743855
name:
Voltage-dependent calcium channel subunit alpha-2/delta-2 (Voltage-gated calcium channel subunit alpha-2/delta-2) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-2; Voltage-dependent calcium channel subunit delta-2]

sequence:

opentargets:
plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; metal ion binding [GO:0046872]; voltage-gated calcium channel activity [GO:0005245]; muscle fiber development [GO:0048747]; neuromuscular junction development [GO:0007528]; positive regulation of organ growth [GO:0046622]; regulation of insulin secretion [GO:0050796]; regulation of ion transmembrane transport [GO:0034765]; regulation of multicellular organism growth [GO:0040014]; rhythmic synaptic transmission [GO:0060024]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Alpha2delta-2a; IsoId=Q9NY47-1; Sequence=Displayed; Name=2; Synonyms=Alpha2delta-2b; IsoId=Q9NY47-2; Sequence=VSP_028059; Name=3; IsoId=Q9NY47-3; Sequence=VSP_028059, VSP_028060; Name=4; IsoId=Q9NY47-4; Sequence=VSP_028058, VSP_028059, VSP_028060; Name=5; Synonyms=Alpha2delta-2c; IsoId=Q9NY47-5; Sequence=VSP_028060; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Colocalizes with CACNA1A in lipid raft fractions. {ECO:0000250}.


uniprotID: Q5VU69
geneSymbol: C1orf189
name: Uncharacterized protein C1orf189
length: 101
sequence:
MSVEKMTKVEESFQKAMGLKKTVDRWRNSHTHCLWQMALGQRRNPYATLRMQDTMVQELALAKKQLLMVRQAALHQLFEKEHQQYQQELNQMGKAFYVERF


uniprotID: Q8IZS8
geneSymbol: CACNA2D3
reactome: R-HSA-112308;R-HSA-5576892;R-HSA-5576893;
length: 1091
go: ENSG00000157445;
drug: DB00381;DB06712;DB00421;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Voltage-dependent calcium channel subunit alpha-2/delta-3 (Voltage-gated calcium channel subunit alpha-2/delta-3) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-3; Voltage-dependent calcium channel subunit delta-3]

sequence:

opentargets:
plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; metal ion binding [GO:0046872]; voltage-gated calcium channel activity [GO:0005245]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IZS8-1; Sequence=Displayed; Name=2; IsoId=Q8IZS8-2; Sequence=VSP_028064; Name=3; IsoId=Q8IZS8-3; Sequence=VSP_028064, VSP_028065, VSP_028066, VSP_028067; 


uniprotID: Q5T440
geneSymbol: IBA57
length: 356
go: ENSG00000181873;
snps: rs2298014 rs587777016
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22323289, ECO:0000269|PubMed:23462291}.
name:
Putative transferase CAF17, mitochondrial (EC 2.1.-.-) (Iron-sulfur cluster assembly factor homolog)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; RNA binding [GO:0003723]; transferase activity [GO:0016740]; heme biosynthetic process [GO:0006783]; iron-sulfur cluster assembly [GO:0016226]


uniprotID: Q13137
geneSymbol: CALCOCO2
pdb: 2MXP;3VVV;3VVW;4GXL;4HAN;4XKL;5AAQ;
length: 446
go: ENSG00000136436;
snps: rs550510 rs2303016 rs2303015 rs17849804 rs10278
name:
Calcium-binding and coiled-coil domain-containing protein 2 (Antigen nuclear dot 52 kDa protein) (Nuclear domain 10 protein NDP52) (Nuclear domain 10 protein 52) (Nuclear dot protein 52)

sequence:

opentargets:
autophagosome [GO:0005776]; autophagosome membrane [GO:0000421]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein homodimerization activity [GO:0042803]; positive regulation of autophagosome maturation [GO:1901098]; response to interferon-gamma [GO:0034341]; viral process [GO:0016032]; xenophagy [GO:0098792]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q13137-1; Sequence=Displayed; Name=2; IsoId=Q13137-2; Sequence=VSP_044728; Note=No experimental confirmation available.; Name=3; IsoId=Q13137-3; Sequence=VSP_046766; Note=No experimental confirmation available.; Name=4; IsoId=Q13137-4; Sequence=VSP_046767; Note=No experimental confirmation available.; Name=5; IsoId=Q13137-5; Sequence=VSP_047414; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:12869526, ECO:0000269|PubMed:17635994, ECO:0000269|PubMed:9230084}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17635994}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000269|PubMed:25771791}; Peripheral membrane protein {ECO:0000305}. Note=According to PubMed:7540613, localizes to nuclear dots. According to PubMed:9230084 and PubMed:12869526, it is not a nuclear dot-associated protein but localizes predominantly in the cytoplasm with a coarse-grained distribution preferentially close to the nucleus. {ECO:0000269|PubMed:12869526, ECO:0000269|PubMed:7540613, ECO:0000269|PubMed:9230084}.


uniprotID: Q9Y6N8
geneSymbol: CDH10
reactome: R-HSA-418990;
name: Cadherin-10 (T2-cadherin)
length: 788
go: ENSG00000040731;
snps: rs1395027
sequence:

opentargets:
catenin complex [GO:0016342]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic specialization membrane [GO:0099060]; integral component of presynaptic active zone membrane [GO:0099059]; 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]


uniprotID: P55285
geneSymbol: CDH6
reactome: R-HSA-418990;
pdb: 5VEB;
name: Cadherin-6 (Kidney cadherin) (K-cadherin)
length: 790
go: ENSG00000113361;
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 adhesion [GO:0007155]; 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]; Notch signaling pathway [GO:0007219]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55285-1; Sequence=Displayed; Name=2; IsoId=P55285-2; Sequence=VSP_000636, VSP_000637; 


uniprotID: Q05682
geneSymbol: CALD1
reactome: R-HSA-445355;
name: Caldesmon (CDM)
length: 793
go: ENSG00000122786;
snps: rs6973420
sequence:

opentargets:
actin cap [GO:0030478]; actin cytoskeleton [GO:0015629]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; myofibril [GO:0030016]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; calmodulin binding [GO:0005516]; myosin binding [GO:0017022]; tropomyosin binding [GO:0005523]; muscle contraction [GO:0006936]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=H-CAD; IsoId=Q05682-1; Sequence=Displayed; Name=2; Synonyms=WI-38 L-CAD I; IsoId=Q05682-2; Sequence=VSP_004155; Name=3; Synonyms=HELA L-CAD I; IsoId=Q05682-3; Sequence=VSP_004154, VSP_004155; Name=4; Synonyms=WI-38 L-CAD II, 1-CAD; IsoId=Q05682-4; Sequence=VSP_004156; Name=5; Synonyms=HELA L-CAD II; IsoId=Q05682-5; Sequence=VSP_004154, VSP_004156; Name=6; IsoId=Q05682-6; Sequence=VSP_004155, VSP_043292; Note=No experimental confirmation available. {ECO:0000244|PubMed:17081983, ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:21406692, ECO:0000244|PubMed:24275569}; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P13505}. Cytoplasm, myofibril {ECO:0000250|UniProtKB:P13505}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000250|UniProtKB:P13505}. Note=On thin filaments in smooth muscle and on stress fibers in fibroblasts (nonmuscle). {ECO:0000250|UniProtKB:P13505}.


uniprotID: O75808
geneSymbol: CAPN15
reactome: R-HSA-1474228;
name: Calpain-15 (EC 3.4.22.-) (Small optic lobes homolog)
length: 1086
go: ENSG00000103326;
sequence:

opentargets:
cytoplasm [GO:0005737]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; cysteine-type peptidase activity [GO:0008234]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; peptidase activity [GO:0008233]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75808-1; Sequence=Displayed; Name=2; IsoId=O75808-2; Sequence=VSP_023361, VSP_023362; Note=No experimental confirmation available.; 


uniprotID: P00414
geneSymbol: MT-CO3
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase subunit 3 (Cytochrome c oxidase polypeptide III)
length: 261
go: ENSG00000198938;
drug: DB02659;DB04464;
snps: rs267606611 rs2853825 rs200613617 rs200809063
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex IV [GO:0005751]; mitochondrion [GO:0005739]; respiratory chain complex IV [GO:0045277]; cytochrome-c oxidase activity [GO:0004129]; electron transfer activity [GO:0009055]; oxidoreduction-driven active transmembrane transporter activity [GO:0015453]; aerobic respiration [GO:0009060]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]; respiratory chain complex IV assembly [GO:0008535]


uniprotID: Q5VVS0
geneSymbol: C1orf140
name: Putative uncharacterized protein C1orf140
length: 124
sequence:
MTQNSSSLGDRIITPYTPPRSQPMNKHLFVSLSTLFQTTELDFANKKSCFLCLPLRADGFPEMPHSPAQTERMQKLAKDPPHARSEDVPDHLFFVDTAGLREIVCFCGVLSLRTSEGLMRKETA


uniprotID: Q16581
geneSymbol: C3AR1
reactome: R-HSA-375276;R-HSA-418594;R-HSA-6798695;R-HSA-977606;
name: C3a anaphylatoxin chemotactic receptor (C3AR) (C3a-R)
length: 482
go: ENSG00000171860;
snps: rs11567806
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; complement component C3a receptor activity [GO:0004876]; G protein-coupled receptor activity [GO:0004930]; blood circulation [GO:0008015]; chemotaxis [GO:0006935]; complement receptor mediated signaling pathway [GO:0002430]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; neutrophil degranulation [GO:0043312]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of macrophage chemotaxis [GO:0010759]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of vascular endothelial growth factor production [GO:0010575]; regulation of complement activation [GO:0030449]


uniprotID: A1L170
geneSymbol: C1orf226
name: Uncharacterized protein C1orf226
length: 272
go: ENSG00000239887;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A1L170-1; Sequence=Displayed; Name=2; IsoId=A1L170-2; Sequence=VSP_040791; 


uniprotID: Q8N6N3
geneSymbol: C1orf52
name: UPF0690 protein C1orf52 (BCL10-associated gene protein)
length: 182
go: ENSG00000162642;
opentargets: nucleus [GO:0005634]; RNA binding [GO:0003723]
sequence:
MAAEEKDPLSYFAAYGSSSSGSSDEEDNIEPEETSRRTPDPAKSAGGCRNKAEKRLPGPDELFRSVTRPAFLYNPLNKQIDWERHVVKAPEEPPKEFKIWKSNYVPPPETYTTEKKPPPPELDMAIKWSNIYEDNGDDAPQNAKKARLLPEGEETLESDDEKDEHTSKKRKVEPGEPAKKKK

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N6N3-1; Sequence=Displayed; Name=2; Synonyms=GM117 form A; IsoId=Q8N6N3-2; Sequence=VSP_021269, VSP_021270; Name=3; Synonyms=GM117 form B; IsoId=Q8N6N3-3; Sequence=VSP_021267, VSP_021268; 


uniprotID: P35218
geneSymbol: CA5A
reactome: R-HSA-1475029;
length: 305
go: ENSG00000174990;
drug: DB03385;DB01194;DB08846;DB00909;
snps: rs587777316
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) (Carbonate dehydratase VA) (Carbonic anhydrase VA) (CA-VA)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; bicarbonate transport [GO:0015701]


uniprotID: P0DP23
geneSymbol: CALM1
name: Calmodulin-1
length: 149
go: ENSG00000143933;ENSG00000160014;ENSG00000198668;
snps: rs267607276 rs730882253 rs398124647 rs730882252 rs11551462
reactome:
R-HSA-111932;R-HSA-111933;R-HSA-111957;R-HSA-111997;R-HSA-114608;R-HSA-1445148;R-HSA-1474151;R-HSA-163615;R-HSA-180024;R-HSA-1855204;R-HSA-2025928;R-HSA-203615;R-HSA-2151201;R-HSA-2514859;R-HSA-2672351;R-HSA-2871809;R-HSA-4086398;R-HSA-418359;R-HSA-425561;R-HSA-442717;R-HSA-442729;R-HSA-442745;R-HSA-442982;R-HSA-445355;R-HSA-451308;R-HSA-5210891;R-HSA-5218920;R-HSA-5218921;R-HSA-5576892;R-HSA-5578775;R-HSA-5607763;R-HSA-5626467;R-HSA-5627123;R-HSA-5673001;R-HSA-70221;R-HSA-8876725;R-HSA-936837;R-HSA-983695;

pdb:
1AJI;1CDL;1CLL;1CTR;1IWQ;1J7O;1J7P;1K90;1K93;1L7Z;1LVC;1NKF;1PK0;1S26;1SK6;1SW8;1UP5;1WRZ;1XFU;1XFV;1XFW;1XFX;1XFY;1XFZ;1Y6W;1YR5;1YRT;1YRU;1ZOT;1ZUZ;2BE6;2F3Y;2F3Z;2HF5;2I08;2JZI;2K0E;2K0F;2K0J;2K61;2KNE;2KUG;2KUH;2L53;2L7L;2LGF;2LL6;2LL7;2LQC;2LQP;2LV6;2M0J;2M0K;2M55;2MG5;2N27;2N6A;2N77;2N8J;2R28;2V01;2V02;2VAY;2W73;2WEL;2X0G;2Y4V;3BYA;3DVE;3DVJ;3DVK;3DVM;3EWT;3EWV;3G43;3HR4;3J41;3O77;3O78;3OXQ;3SUI;3UCT;3UCW;3UCY;4BW7;4BW8;4BYF;4DCK;4DJC;4GOW;4JPZ;4JQ0;4L79;4LZX;4M1L;4OVN;4Q57;4Q5U;4UMO;4UPU;4V0C;5COC;5DBR;5DOW;5DSU;5GGM;5I0I;5J03;5J8H;5JQA;5JTH;5K7L;5K8Q;5OEO;5TP5;5TP6;5V02;5V03;5V7X;5WBX;5WC5;6B8L;6B8M;6B8N;6B8P;6B8Q;6C1D;6C1G;6C1H;6CNM;6CNN;6CNO;6E2F;6E2G;6FEG;6FEH;

sequence:
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK

opentargets:
calcium channel complex [GO:0034704]; catalytic complex [GO:1902494]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; growth cone [GO:0030426]; mitochondrial membrane [GO:0031966]; myelin sheath [GO:0043209]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; sarcomere [GO:0030017]; spindle microtubule [GO:0005876]; spindle pole [GO:0000922]; synaptic vesicle membrane [GO:0030672]; vesicle [GO:0031982]; adenylate cyclase activator activity [GO:0010856]; adenylate cyclase binding [GO:0008179]; calcium channel inhibitor activity [GO:0019855]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; disordered domain specific binding [GO:0097718]; inositol-1,4,5-trisphosphate 3-kinase activity [GO:0008440]; ion channel binding [GO:0044325]; ligand-gated ion channel activity [GO:0015276]; N-terminal myristoylation domain binding [GO:0031997]; nitric-oxide synthase binding [GO:0050998]; nitric-oxide synthase regulator activity [GO:0030235]; phosphatidylinositol 3-kinase binding [GO:0043548]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; protein phosphatase activator activity [GO:0072542]; protein serine/threonine kinase activator activity [GO:0043539]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; titin binding [GO:0031432]; type 3 metabotropic glutamate receptor binding [GO:0031800]; activation of adenylate cyclase activity [GO:0007190]; cofactor metabolic process [GO:0051186]; detection of calcium ion [GO:0005513]; establishment of protein localization to mitochondrial membrane [GO:0090151]; Fc-epsilon receptor signaling pathway [GO:0038095]; G protein-coupled receptor signaling pathway [GO:0007186]; inositol phosphate metabolic process [GO:0043647]; MAPK cascade [GO:0000165]; muscle contraction [GO:0006936]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; negative regulation of ryanodine-sensitive calcium-release channel activity [GO:0060315]; platelet degranulation [GO:0002576]; positive regulation by host of symbiont cAMP-mediated signal transduction [GO:0075206]; positive regulation of cyclic-nucleotide phosphodiesterase activity [GO:0051343]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; positive regulation of protein autophosphorylation [GO:0031954]; positive regulation of protein dephosphorylation [GO:0035307]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of ryanodine-sensitive calcium-release channel activity [GO:0060316]; regulation of cardiac muscle contraction [GO:0055117]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cell communication by electrical coupling involved in cardiac conduction [GO:1901844]; regulation of cytokinesis [GO:0032465]; regulation of heart rate [GO:0002027]; regulation of high voltage-gated calcium channel activity [GO:1901841]; regulation of nitric-oxide synthase activity [GO:0050999]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; regulation of synaptic vesicle endocytosis [GO:1900242]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to amphetamine [GO:0001975]; response to calcium ion [GO:0051592]; response to corticosterone [GO:0051412]; substantia nigra development [GO:0021762]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16760425}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16760425}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Note=Distributed throughout the cell during interphase, but during mitosis becomes dramatically localized to the spindle poles and the spindle microtubules.


uniprotID: P22676
geneSymbol: CALB2
name: Calretinin (CR) (29 kDa calbindin)
length: 271
go: ENSG00000172137;
sequence:

opentargets:
cytosol [GO:0005829]; dendrite [GO:0030425]; gap junction [GO:0005921]; neuron projection [GO:0043005]; nucleus [GO:0005634]; parallel fiber to Purkinje cell synapse [GO:0098688]; presynapse [GO:0098793]; synapse [GO:0045202]; synaptic membrane [GO:0097060]; calcium ion binding [GO:0005509]; calcium ion binding involved in regulation of presynaptic cytosolic calcium ion concentration [GO:0099534]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of long-term synaptic potentiation [GO:1900271]; regulation of presynaptic cytosolic calcium ion concentration [GO:0099509]


uniprotID: Q9UMQ6
geneSymbol: CAPN11
reactome: R-HSA-1474228;
name: Calpain-11 (EC 3.4.22.-) (Calcium-activated neutral proteinase 11) (CANP 11)
length: 739
go: ENSG00000137225;
snps: rs6938938 rs16871612 rs34710081 rs35527493 rs7761137
location: SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250}.
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytoplasm [GO:0005737]; calcium ion binding [GO:0005509]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; peptidase activity [GO:0008233]; proteolysis [GO:0006508]


uniprotID: P54284
geneSymbol: CACNB3
reactome: R-HSA-112308;R-HSA-400042;R-HSA-419037;R-HSA-422356;R-HSA-5576892;R-HSA-5576893;
length: 484
go: ENSG00000167535;
drug: DB04855;DB01388;DB00393;DB00421;DB00661;
snps: rs2229954
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P54285}.
name:
Voltage-dependent L-type calcium channel subunit beta-3 (CAB3) (Calcium channel voltage-dependent subunit beta 3)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytosol [GO:0005829]; L-type voltage-gated calcium channel complex [GO:1990454]; membrane [GO:0016020]; plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; calcium channel activity [GO:0005262]; calcium channel regulator activity [GO:0005246]; high voltage-gated calcium channel activity [GO:0008331]; protein kinase binding [GO:0019901]; voltage-gated calcium channel activity [GO:0005245]; calcium ion transmembrane transport via high voltage-gated calcium channel [GO:0061577]; calcium ion transport [GO:0006816]; calcium ion transport into cytosol [GO:0060402]; cellular response to oxygen-glucose deprivation [GO:0090650]; chemical synaptic transmission [GO:0007268]; detection of mechanical stimulus involved in sensory perception of pain [GO:0050966]; membrane depolarization [GO:0051899]; negative regulation of detection of mechanical stimulus involved in sensory perception of touch [GO:1905788]; negative regulation of voltage-gated calcium channel activity [GO:1901386]; neuromuscular junction development [GO:0007528]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of high voltage-gated calcium channel activity [GO:1901843]; positive regulation of protein targeting to membrane [GO:0090314]; protein localization to plasma membrane [GO:0072659]; regulation of membrane hyperpolarization [GO:1902630]; regulation of membrane repolarization during action potential [GO:0098903]; regulation of voltage-gated calcium channel activity [GO:1901385]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=3A; IsoId=P54284-1; Sequence=Displayed; Name=2; Synonyms=3B; IsoId=P54284-2; Sequence=VSP_000634; Name=3; IsoId=P54284-3; Sequence=VSP_046708; Note=No experimental confirmation available.; Name=4; IsoId=P54284-4; Sequence=VSP_046709; Note=No experimental confirmation available.; Name=5; IsoId=P54284-5; Sequence=VSP_046710; Note=Gene prediction based on EST data.; 


uniprotID: Q8N5C1
geneSymbol: CALHM5
name: Calcium homeostasis modulator protein 5 (Protein FAM26E)
length: 309
go: ENSG00000178033;
opentargets: integral component of plasma membrane [GO:0005887]; ion transport [GO:0006811]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q86UW7
geneSymbol: CADPS2
length: 1296
go: ENSG00000081803;
snps: rs17144625
name:
Calcium-dependent secretion activator 2 (Calcium-dependent activator protein for secretion 2) (CAPS-2)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasmic vesicle membrane [GO:0030659]; glutamatergic synapse [GO:0098978]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; parallel fiber to Purkinje cell synapse [GO:0098688]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; lipid binding [GO:0008289]; metal ion binding [GO:0046872]; cellular response to starvation [GO:0009267]; dense core granule exocytosis [GO:1990504]; positive regulation of exocytosis [GO:0045921]; protein transport [GO:0015031]; synaptic vesicle priming [GO:0016082]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86UW7-1; Sequence=Displayed; Name=2; IsoId=Q86UW7-2; Sequence=VSP_016815, VSP_016816, VSP_016817, VSP_016818; Name=3; IsoId=Q86UW7-3; Sequence=VSP_016815, VSP_016816, VSP_016817; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell junction, synapse. Note=Membrane-associated to vesicles. Strongly enriched in synaptic fractions. Probably localizes to different vesicles compared to CADPS. Enriched on vesicular structures in the parallel fiber terminal of granule cells that are distinct from synaptic vesicles.


uniprotID: P09669
geneSymbol: COX6C
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase subunit 6C (Cytochrome c oxidase polypeptide VIc)
sequence: MAPEVLPKPRMRGLLARRLRNHMAVAFVLSLGVAALYKFRVADQRKKAYADFYRNYDVMKDFEEMRKAGIFQSVK
length: 75
go: ENSG00000164919;
drug: DB02659;DB04464;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; cytochrome-c oxidase activity [GO:0004129]; generation of precursor metabolites and energy [GO:0006091]


uniprotID: P21730
geneSymbol: C5AR1
reactome: R-HSA-375276;R-HSA-418594;R-HSA-6798695;R-HSA-977606;
pdb: 5O9H;6C1Q;6C1R;
length: 350
go: ENSG00000197405;
snps: rs4467185 rs11880097
name:
C5a anaphylatoxin chemotactic receptor 1 (C5a anaphylatoxin chemotactic receptor) (C5a-R) (C5aR) (CD antigen CD88)

sequence:

opentargets:
apical part of cell [GO:0045177]; basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; complement component C5a binding [GO:0001856]; complement component C5a receptor activity [GO:0004878]; G protein-coupled receptor activity [GO:0004930]; activation of MAPK activity [GO:0000187]; activation of phospholipase C activity [GO:0007202]; animal organ regeneration [GO:0031100]; apoptotic process [GO:0006915]; cell proliferation in hindbrain [GO:0021534]; cellular defense response [GO:0006968]; chemotaxis [GO:0006935]; complement component C5a signaling pathway [GO:0038178]; complement receptor mediated signaling pathway [GO:0002430]; defense response to Gram-positive bacterium [GO:0050830]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; mRNA transcription by RNA polymerase II [GO:0042789]; negative regulation of neuron apoptotic process [GO:0043524]; neutrophil chemotaxis [GO:0030593]; neutrophil degranulation [GO:0043312]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of macrophage chemotaxis [GO:0010759]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of vascular endothelial growth factor production [GO:0010575]; regulation of complement activation [GO:0030449]; response to lipopolysaccharide [GO:0032496]; response to peptidoglycan [GO:0032494]; sensory perception of chemical stimulus [GO:0007606]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12464600, ECO:0000269|PubMed:29300009}; Multi-pass membrane protein {ECO:0000269|PubMed:29300009}. Cytoplasmic vesicle {ECO:0000269|PubMed:12464600}. Note=Phosphorylated C5aR colocalizes with ARRB1 and ARRB2 in cytoplasmic vesicles. {ECO:0000269|PubMed:12464600}.


uniprotID: Q4AC94
geneSymbol: C2CD3
reactome: R-HSA-5620912;
name: C2 domain-containing protein 3
length: 2353
go: ENSG00000168014;
snps: rs34050666 rs11235995 rs587777654 rs826058 rs1095423 rs12419308 rs1064793399 rs1632245 rs1632242
sequence:

opentargets:
centriolar satellite [GO:0034451]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cytosol [GO:0005829]; brain development [GO:0007420]; centriole elongation [GO:0061511]; ciliary basal body-plasma membrane docking [GO:0097711]; embryonic digit morphogenesis [GO:0042733]; heart looping [GO:0001947]; in utero embryonic development [GO:0001701]; neural plate axis specification [GO:0021997]; neural tube development [GO:0021915]; non-motile cilium assembly [GO:1905515]; protein localization to centrosome [GO:0071539]; protein processing [GO:0016485]; regulation of proteolysis [GO:0030162]; regulation of smoothened signaling pathway [GO:0008589]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=5; IsoId=Q4AC94-5; Sequence=Displayed; Name=1; IsoId=Q4AC94-1; Sequence=VSP_034677, VSP_034678; Name=2; IsoId=Q4AC94-2; Sequence=VSP_029444, VSP_029445, VSP_029447; Note=No experimental confirmation available.; Name=3; IsoId=Q4AC94-3; Sequence=VSP_029448, VSP_034679; Note=No experimental confirmation available.; Name=4; IsoId=Q4AC94-4; Sequence=VSP_029446, VSP_034676; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:23769972, ECO:0000269|PubMed:24997988}. Note=Localizes to centrioles and procentrioles both in interphase and mitosis. Localizes to centriolar satellites, localization is dependent on PCM1 and dynein-mediated retrograde transport. Also localizes to the distal ends of the mother and daughter centrioles.


uniprotID: Q8TCZ2
geneSymbol: CD99L2
reactome: R-HSA-202733;
name: CD99 antigen-like protein 2 (MIC2-like protein 1) (CD antigen CD99)
length: 262
go: ENSG00000102181;
sequence:

opentargets:
cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; diapedesis [GO:0050904]; positive regulation of neutrophil extravasation [GO:2000391]; positive regulation of T cell extravasation [GO:2000409]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8TCZ2-1; Sequence=Displayed; Name=2; IsoId=Q8TCZ2-2; Sequence=VSP_034184; Name=3; IsoId=Q8TCZ2-3; Sequence=VSP_034182, VSP_034183; Name=4; IsoId=Q8TCZ2-4; Sequence=VSP_034181, VSP_034185; Note=No experimental confirmation available.; Name=5; IsoId=Q8TCZ2-5; Sequence=VSP_041815, VSP_041816; Note=No experimental confirmation available.; Name=6; IsoId=Q8TCZ2-6; Sequence=VSP_044663; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}; Extracellular side {ECO:0000250}. Cell junction {ECO:0000250}.


uniprotID: Q9H7X2
geneSymbol: C1orf115
name: Uncharacterized protein C1orf115
length: 142
go: ENSG00000162817;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MTVGARLRSKAESSLLRRGPRGRGRTEGDEEAAAILEHLEYADEAEAAAESGTSAADERGPGTRGARRVHFALLPERYEPLEEPAPSEQPRKRYRRKLKKYGKNVGKVIIKGCRYVVIGLQGFAAAYSAPFAVATSVVSFVR


uniprotID: Q8IVY1
geneSymbol: C1orf210
name: Type III endosome membrane protein TEMP (TEMP)
length: 113
go: ENSG00000253313;
snps: rs35465732
sequence:
MNETNKTLVGPSELPTASAVAPGPGTGARAWPVLVGFVLGAVVLSLLIALAAKCHLCRRYHASYRHRPLPETGRGGRPQVAEDEDDDGFIEDNYIQPGTGELGTEGSRDHFSL

opentargets:
early endosome [GO:0005769]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type III membrane protein {ECO:0000305}. Early endosome {ECO:0000250|UniProtKB:Q9CQM1}. Recycling endosome {ECO:0000250|UniProtKB:Q9CQM1}. Cell membrane {ECO:0000250|UniProtKB:Q9CQM1}. Note=Also localizes to tubular endosome structures. {ECO:0000250|UniProtKB:Q9CQM1}.


uniprotID: Q8TAB5
geneSymbol: C1orf216
name: UPF0500 protein C1orf216
length: 229
go: ENSG00000142686;
sequence:


uniprotID: Q3SY05
geneSymbol: LINC00303
name: Putative uncharacterized protein encoded by LINC00303
length: 128
snps: rs4951039
sequence:
MYKSWTLGDPKEKEGVGNILEETKRTQNNTEQASRAINSPLQSPYTDSMKALAISSHWFLPQIHTLPPITKATRHRWPPACCGRRGGQTTLPPLTPIVRACESMERSCPGNYPMQHERKVMQRHPTLR

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3SY05-1; Sequence=Displayed; Name=2; IsoId=Q3SY05-2; Sequence=VSP_019954; Note=No experimental confirmation available.; 


uniprotID: Q9NPB3
geneSymbol: CABP2
name: Calcium-binding protein 2 (CaBP2)
length: 220
go: ENSG00000167791;
snps: rs2276118
sequence:

opentargets:
Golgi apparatus [GO:0005794]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; calcium channel regulator activity [GO:0005246]; calcium ion binding [GO:0005509]; sensory perception of sound [GO:0007605]; signal transduction [GO:0007165]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=L-CaBP2; IsoId=Q9NPB3-1; Sequence=Displayed; Name=S-CaBP2; IsoId=Q9NPB3-2; Sequence=VSP_000734; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:19338761}. Cell membrane {ECO:0000269|PubMed:19338761}; Lipid-anchor {ECO:0000269|PubMed:19338761}; Cytoplasmic side {ECO:0000269|PubMed:19338761}. Golgi apparatus {ECO:0000269|PubMed:19338761}.


uniprotID: Q8NAE3
geneSymbol: LINC01555
name: Putative uncharacterized protein encoded by LINC01555
length: 123
snps: rs4551616
sequence:
MLGPNAQVTVVVAQPGPDHLDHLLLDTQHCQHSSCGSAACTQLTWVPCLGGSHKASIKMSAQAVVSTEAPWERPCFQAHLGCLQNSVLCSCRMEGFSLFLAMLWGGVGELPSDPRGHLQFLAT


uniprotID: Q9BY67
geneSymbol: CADM1
reactome: R-HSA-418990;R-HSA-420597;
pdb: 3BIN;4H5S;
length: 442
go: ENSG00000182985;
snps: rs45525440
name:
Cell adhesion molecule 1 (Immunoglobulin superfamily member 4) (IgSF4) (Nectin-like protein 2) (NECL-2) (Spermatogenic immunoglobulin superfamily) (SgIgSF) (Synaptic cell adhesion molecule) (SynCAM) (Tumor suppressor in lung cancer 1) (TSLC-1)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell-cell junction [GO:0005911]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; synapse [GO:0045202]; PDZ domain binding [GO:0030165]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; adherens junction organization [GO:0034332]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; cell recognition [GO:0008037]; detection of stimulus [GO:0051606]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; immune system process [GO:0002376]; multicellular organism development [GO:0007275]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; spermatogenesis [GO:0007283]; susceptibility to natural killer cell mediated cytotoxicity [GO:0042271]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1 {ECO:0000269|PubMed:15893517}; IsoId=Q9BY67-1; Sequence=Displayed; Name=2 {ECO:0000269|Ref.4}; IsoId=Q9BY67-2; Sequence=VSP_052461, VSP_052462; Name=3; IsoId=Q9BY67-3; Sequence=VSP_047406; Name=4; IsoId=Q9BY67-4; Sequence=VSP_047407; Name=5; Synonyms=E; IsoId=Q9BY67-5; Sequence=VSP_047405; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11279526, ECO:0000269|PubMed:22438059}; Single-pass type I membrane protein {ECO:0000269|PubMed:11279526}. Cell junction, synapse {ECO:0000250|UniProtKB:Q8R5M8}. Note=Localized to the basolateral plasma membrane of epithelial cells in gall bladder. {ECO:0000250|UniProtKB:Q8R5M8}.


uniprotID: Q8N3J6
geneSymbol: CADM2
reactome: R-HSA-418990;
length: 435
go: ENSG00000175161;
name:
Cell adhesion molecule 2 (Immunoglobulin superfamily member 4D) (IgSF4D) (Nectin-like protein 3) (NECL-3) (Synaptic cell adhesion molecule 2) (SynCAM 2)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; synapse [GO:0045202]; adherens junction organization [GO:0034332]; cell adhesion [GO:0007155]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N3J6-1; Sequence=Displayed; Name=2; IsoId=Q8N3J6-2; Sequence=VSP_026334, VSP_026335; Name=3; IsoId=Q8N3J6-3; Sequence=VSP_026333; Name=5; Synonyms=7; IsoId=Q8N3J6-4; Sequence=VSP_055355, VSP_055356; Name=6; Synonyms=8; IsoId=Q8N3J6-5; Sequence=VSP_055355; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17967169}; Single-pass type I membrane protein {ECO:0000269|PubMed:17967169}. Cell junction, synapse {ECO:0000269|PubMed:17967169}. Cell projection, axon {ECO:0000269|PubMed:17967169}. Note=Found in the axoplasm of myelinated axons.


uniprotID: P23280
geneSymbol: CA6
reactome: R-HSA-1475029;
pdb: 3FE4;
length: 308
go: ENSG00000131686;
drug: DB08846;DB06795;DB00909;
snps: rs34265054 rs2274327 rs58800854 rs2274328 rs2274329 rs2274333
location: SUBCELLULAR LOCATION: Secreted.
name:
Carbonic anhydrase 6 (EC 4.2.1.1) (Carbonate dehydratase VI) (Carbonic anhydrase VI) (CA-VI) (Salivary carbonic anhydrase) (Secreted carbonic anhydrase)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; bicarbonate transport [GO:0015701]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; one-carbon metabolic process [GO:0006730]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P23280-1; Sequence=Displayed; Name=2; IsoId=P23280-2; Sequence=VSP_045435; Note=No experimental confirmation available.; Name=3; IsoId=P23280-3; Sequence=VSP_046668; Note=No experimental confirmation available.; 


uniprotID: Q13939
geneSymbol: CCIN
name: Calicin
length: 588
go: ENSG00000185972;
snps: rs34789048
sequence:

opentargets:
cytoskeletal calyx [GO:0033150]; nucleus [GO:0005634]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, perinuclear theca, calyx. Note=Sperm head cytoskeletal structure tightly associated to the nucleus.


uniprotID: P00915
geneSymbol: CA1
reactome: R-HSA-1237044;R-HSA-1247673;R-HSA-1475029;R-HSA-8950505;
length: 261
go: ENSG00000133742;
snps: rs990757234 rs7821248 rs121909577
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1AZM;1BZM;1CRM;1CZM;1HCB;1HUG;1HUH;1J9W;1JV0;2CAB;2FOY;2FW4;2IT4;2NMX;2NN1;2NN7;3LXE;3W6H;3W6I;4WR7;4WUP;4WUQ;5E2M;5GMM;6EVR;

name:
Carbonic anhydrase 1 (EC 4.2.1.1) (Carbonate dehydratase I) (Carbonic anhydrase B) (CAB) (Carbonic anhydrase I) (CA-I)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; arylesterase activity [GO:0004064]; carbonate dehydratase activity [GO:0004089]; hydro-lyase activity [GO:0016836]; zinc ion binding [GO:0008270]; bicarbonate transport [GO:0015701]; interleukin-12-mediated signaling pathway [GO:0035722]; one-carbon metabolic process [GO:0006730]

drug:
DB08156;DB00819;DB00381;DB00436;DB00562;DB01194;DB00880;DB00606;DB01119;DB01144;DB00869;DB08846;DB01031;DB00311;DB08157;DB00999;DB00774;DB00703;DB00423;DB00232;DB08155;DB01325;DB09460;DB01021;DB00909;


uniprotID: Q8TD86
geneSymbol: CALML6
name: Calmodulin-like protein 6 (Calglandulin-like protein)
length: 181
go: ENSG00000169885;
snps: rs28581776
sequence:
MGLQQEISLQPWCHHPAESCQTTTDMTERLSAEQIKEYKGVFEMFDEEGNGEVKTGELEWLMSLLGINPTKSELASMAKDVDRDNKGFFNCDGFLALMGVYHEKAQNQESELRAAFRVFDKEGKGYIDWNTLKYVLMNAGEPLNEVEAEQMMKEADKDGDRTIDYEEFVAMMTGESFKLIQ

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; enzyme regulator activity [GO:0030234]; calcium-mediated signaling [GO:0019722]; spindle pole body organization [GO:0051300]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15621662}. Nucleus {ECO:0000269|PubMed:15621662}.


uniprotID: P27797
geneSymbol: CALR
reactome: R-HSA-1236974;R-HSA-168316;R-HSA-3000480;R-HSA-3000484;R-HSA-381183;R-HSA-901042;R-HSA-983170;
pdb: 2CLR;3DOW;3POS;3POW;5LK5;5V90;6ENY;
length: 417
go: ENSG00000179218;
drug: DB00025;DB01065;DB00031;
name:
Calreticulin (CRP55) (Calregulin) (Endoplasmic reticulum resident protein 60) (ERp60) (HACBP) (grp60)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endocytic vesicle lumen [GO:0071682]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum quality control compartment [GO:0044322]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; intracellular [GO:0005622]; membrane [GO:0016020]; MHC class I peptide loading complex [GO:0042824]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle membrane [GO:0030670]; polysome [GO:0005844]; sarcoplasmic reticulum lumen [GO:0033018]; smooth endoplasmic reticulum [GO:0005790]; androgen receptor binding [GO:0050681]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; chaperone binding [GO:0051087]; complement component C1q binding [GO:0001849]; DNA binding [GO:0003677]; hormone binding [GO:0042562]; integrin binding [GO:0005178]; iron ion binding [GO:0005506]; mRNA binding [GO:0003729]; peptide binding [GO:0042277]; protein binding involved in protein folding [GO:0044183]; RNA binding [GO:0003723]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; zinc ion binding [GO:0008270]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; ATF6-mediated unfolded protein response [GO:0036500]; cardiac muscle cell differentiation [GO:0055007]; cellular calcium ion homeostasis [GO:0006874]; cellular response to lithium ion [GO:0071285]; cellular senescence [GO:0090398]; chaperone-mediated protein folding [GO:0061077]; cortical actin cytoskeleton organization [GO:0030866]; glucocorticoid receptor signaling pathway [GO:0042921]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of intracellular steroid hormone receptor signaling pathway [GO:0033144]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of retinoic acid receptor signaling pathway [GO:0048387]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of translation [GO:0017148]; negative regulation of trophoblast cell migration [GO:1901164]; peptide antigen assembly with MHC class I protein complex [GO:0002502]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; positive regulation of dendritic cell chemotaxis [GO:2000510]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of gene expression [GO:0010628]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of phagocytosis [GO:0050766]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; protein export from nucleus [GO:0006611]; protein folding [GO:0006457]; protein folding in endoplasmic reticulum [GO:0034975]; protein localization to nucleus [GO:0034504]; protein maturation by protein folding [GO:0022417]; protein stabilization [GO:0050821]; receptor-mediated endocytosis [GO:0006898]; regulation of apoptotic process [GO:0042981]; regulation of meiotic nuclear division [GO:0040020]; regulation of transcription, DNA-templated [GO:0006355]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to testosterone [GO:0033574]; sequestering of calcium ion [GO:0051208]; spermatogenesis [GO:0007283]; vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane [GO:1990668]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:10358038, ECO:0000269|PubMed:11149926}. Cytoplasm, cytosol {ECO:0000269|PubMed:11149926}. Secreted, extracellular space, extracellular matrix {ECO:0000305}. Cell surface {ECO:0000269|PubMed:10358038}. Sarcoplasmic reticulum lumen {ECO:0000250|UniProtKB:P28491}. Note=Also found in cell surface (T cells), cytosol and extracellular matrix (PubMed:10358038). Associated with the lytic granules in the cytolytic T-lymphocytes. {ECO:0000269|PubMed:10358038, ECO:0000269|PubMed:8418194}.


uniprotID: Q16602
geneSymbol: CALCRL
reactome: R-HSA-418555;R-HSA-419812;
pdb: 3AQF;3N7P;3N7R;3N7S;4RWF;4RWG;5V6Y;6D1U;6E3Y;
length: 461
snps: rs698577 rs13391909 rs34010553
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Calcitonin gene-related peptide type 1 receptor (CGRP type 1 receptor) (Calcitonin receptor-like receptor)

sequence:

opentargets:
adrenomedullin receptor complex [GO:1903143]; CGRP receptor complex [GO:1990406]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; adrenomedullin binding [GO:1990409]; adrenomedullin receptor activity [GO:0001605]; calcitonin gene-related peptide receptor activity [GO:0001635]; calcitonin receptor activity [GO:0004948]; G protein-coupled receptor activity [GO:0004930]; protein transporter activity [GO:0008565]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adrenomedullin receptor signaling pathway [GO:1990410]; angiogenesis [GO:0001525]; calcitonin gene-related peptide receptor signaling pathway [GO:1990408]; calcium ion transport [GO:0006816]; cell surface receptor signaling pathway [GO:0007166]; cellular response to sucrose stimulus [GO:0071329]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; heart development [GO:0007507]; negative regulation of inflammatory response [GO:0050728]; negative regulation of smooth muscle contraction [GO:0045986]; positive regulation of smooth muscle cell proliferation [GO:0048661]; protein transport [GO:0015031]; receptor internalization [GO:0031623]


uniprotID: Q13634
geneSymbol: CDH18
reactome: R-HSA-418990;
name: Cadherin-18 (Cadherin-14)
length: 790
go: ENSG00000145526;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13634-1; Sequence=Displayed; Name=2; IsoId=Q13634-2; Sequence=VSP_042308; 


uniprotID: Q8IU99
geneSymbol: CALHM1
name: Calcium homeostasis modulator protein 1 (Protein FAM26C)
length: 346
go: ENSG00000185933;
snps: rs2986017
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; calcium activated cation channel activity [GO:0005227]; identical protein binding [GO:0042802]; voltage-gated calcium channel activity [GO:0005245]; voltage-gated ion channel activity [GO:0005244]; ATP transport [GO:0015867]; cation transport [GO:0006812]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]; sensory perception of bitter taste [GO:0050913]; sensory perception of sweet taste [GO:0050916]; sensory perception of umami taste [GO:0050917]

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein {ECO:0000269|PubMed:18585350, ECO:0000269|PubMed:22711817, ECO:0000269|PubMed:23300080}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:18585350}; Multi-pass membrane protein. Note=Colocalizes with HSPA5 at the endoplasmic reticulum.


uniprotID: Q9HC96
geneSymbol: CAPN10
reactome: R-HSA-1474228;
name: Calpain-10 (EC 3.4.22.-) (Calcium-activated neutral proteinase 10) (CANP 10)
length: 672
go: ENSG00000142330;
snps: rs3792268 rs768407925 rs776848131 rs7607759 rs146148004 rs2975766
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; cytoskeletal protein binding [GO:0008092]; SNARE binding [GO:0000149]; actin cytoskeleton reorganization [GO:0031532]; cellular component disassembly involved in execution phase of apoptosis [GO:0006921]; cellular response to insulin stimulus [GO:0032869]; positive regulation of glucose import [GO:0046326]; positive regulation of insulin secretion [GO:0032024]; positive regulation of intracellular transport [GO:0032388]; positive regulation of type B pancreatic cell apoptotic process [GO:2000676]; proteolysis [GO:0006508]; type B pancreatic cell apoptotic process [GO:0097050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=A; Synonyms=CAPN10a; IsoId=Q9HC96-1; Sequence=Displayed; Name=B; Synonyms=CAPN10b; IsoId=Q9HC96-2; Sequence=VSP_005232, VSP_005233; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=C; Synonyms=CAPN10c; IsoId=Q9HC96-3; Sequence=VSP_005234; Name=D; Synonyms=CAPN10d; IsoId=Q9HC96-4; Sequence=VSP_005235, VSP_005236; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=E; Synonyms=CAPN10e; IsoId=Q9HC96-5; Sequence=VSP_005237, VSP_005238; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=F; Synonyms=CAPN10f; IsoId=Q9HC96-6; Sequence=VSP_005239, VSP_005240; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=G; Synonyms=CAPN10g; IsoId=Q9HC96-7; Sequence=VSP_005241, VSP_005242; Name=H; Synonyms=CAPN10h; IsoId=Q9HC96-8; Sequence=VSP_005243; 


uniprotID: Q86VP6
geneSymbol: CAND1
reactome: R-HSA-6798695;R-HSA-8951664;R-HSA-917937;
pdb: 1U6G;4A0C;
length: 1230
go: ENSG00000111530;
snps: rs12580996 rs17854618
name:
Cullin-associated NEDD8-dissociated protein 1 (Cullin-associated and neddylation-dissociated protein 1) (TBP-interacting protein of 120 kDa A) (TBP-interacting protein 120A) (p120 CAND1)

sequence:

opentargets:
cullin-RING ubiquitin ligase complex [GO:0031461]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; ubiquitin ligase complex [GO:0000151]; TBP-class protein binding [GO:0017025]; cell differentiation [GO:0030154]; cellular iron ion homeostasis [GO:0006879]; negative regulation of catalytic activity [GO:0043086]; neutrophil degranulation [GO:0043312]; positive regulation of RNA polymerase II transcriptional preinitiation complex assembly [GO:0045899]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; SCF complex assembly [GO:0010265]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86VP6-1; Sequence=Displayed; Name=2; IsoId=Q86VP6-2; Sequence=VSP_013948; Note=No experimental confirmation available.; Name=3; IsoId=Q86VP6-3; Sequence=VSP_013947, VSP_013949, VSP_013950; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21249194}. Nucleus {ECO:0000269|PubMed:21249194}. Note=Predominantly cytoplasmic.


uniprotID: P0DP25
geneSymbol: CALM3
name: Calmodulin-3
length: 149
go: ENSG00000143933;ENSG00000160014;ENSG00000198668;
sequence:
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK

opentargets:
calcium channel complex [GO:0034704]; catalytic complex [GO:1902494]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; growth cone [GO:0030426]; mitochondrial membrane [GO:0031966]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; sarcomere [GO:0030017]; spindle microtubule [GO:0005876]; spindle pole [GO:0000922]; synaptic vesicle membrane [GO:0030672]; vesicle [GO:0031982]; voltage-gated potassium channel complex [GO:0008076]; adenylate cyclase activator activity [GO:0010856]; adenylate cyclase binding [GO:0008179]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; disordered domain specific binding [GO:0097718]; ion channel binding [GO:0044325]; N-terminal myristoylation domain binding [GO:0031997]; nitric-oxide synthase binding [GO:0050998]; nitric-oxide synthase regulator activity [GO:0030235]; phosphatidylinositol 3-kinase binding [GO:0043548]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; protein phosphatase activator activity [GO:0072542]; protein serine/threonine kinase activator activity [GO:0043539]; titin binding [GO:0031432]; type 3 metabotropic glutamate receptor binding [GO:0031800]; activation of adenylate cyclase activity [GO:0007190]; detection of calcium ion [GO:0005513]; establishment of protein localization to mitochondrial membrane [GO:0090151]; G protein-coupled receptor signaling pathway [GO:0007186]; G2/M transition of mitotic cell cycle [GO:0000086]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; negative regulation of ryanodine-sensitive calcium-release channel activity [GO:0060315]; positive regulation by host of symbiont cAMP-mediated signal transduction [GO:0075206]; positive regulation of cyclic-nucleotide phosphodiesterase activity [GO:0051343]; positive regulation of DNA binding [GO:0043388]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; positive regulation of protein autophosphorylation [GO:0031954]; positive regulation of protein dephosphorylation [GO:0035307]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of ryanodine-sensitive calcium-release channel activity [GO:0060316]; regulation of cardiac muscle contraction [GO:0055117]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cell communication by electrical coupling involved in cardiac conduction [GO:1901844]; regulation of cytokinesis [GO:0032465]; regulation of heart rate [GO:0002027]; regulation of high voltage-gated calcium channel activity [GO:1901841]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of synaptic vesicle endocytosis [GO:1900242]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to amphetamine [GO:0001975]; response to calcium ion [GO:0051592]; response to corticosterone [GO:0051412]; substantia nigra development [GO:0021762]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16760425}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16760425}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Note=Distributed throughout the cell during interphase, but during mitosis becomes dramatically localized to the spindle poles and the spindle microtubules.


uniprotID: Q8IWP9
geneSymbol: CCDC28A
name: Coiled-coil domain-containing protein 28A (CCRL1AP)
length: 274
go: ENSG00000024862;
snps: rs34538642 rs2273510
sequence:


uniprotID: Q8IY42
geneSymbol: C4orf19
name: Uncharacterized protein C4orf19
length: 314
go: ENSG00000154274;
opentargets: cell junction [GO:0030054]; nucleoplasm [GO:0005654]
snps: rs6852908 rs2973275 rs3733500
sequence:


uniprotID: P10747
geneSymbol: CD28
reactome: R-HSA-1257604;R-HSA-164939;R-HSA-2219530;R-HSA-389356;R-HSA-389357;R-HSA-389359;R-HSA-6811558;
pdb: 1YJD;3WA4;5AUL;5GJH;5GJI;
name: T-cell-specific surface glycoprotein CD28 (TP44) (CD antigen CD28)
length: 220
go: ENSG00000178562;
sequence:

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; immunological synapse [GO:0001772]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; protein complex involved in cell adhesion [GO:0098636]; coreceptor activity [GO:0015026]; identical protein binding [GO:0042802]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protease binding [GO:0002020]; protein kinase binding [GO:0019901]; SH3/SH2 adaptor activity [GO:0005070]; apoptotic signaling pathway [GO:0097190]; cell surface receptor signaling pathway [GO:0007166]; cytokine biosynthetic process [GO:0042089]; humoral immune response [GO:0006959]; negative regulation of apoptotic process [GO:0043066]; negative regulation of gene expression [GO:0010629]; negative thymic T cell selection [GO:0045060]; positive regulation of alpha-beta T cell proliferation [GO:0046641]; positive regulation of gene expression [GO:0010628]; positive regulation of inflammatory response to antigenic stimulus [GO:0002863]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of isotype switching to IgG isotypes [GO:0048304]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of translation [GO:0045727]; positive regulation of viral genome replication [GO:0045070]; regulation of defense response to virus by virus [GO:0050690]; regulation of regulatory T cell differentiation [GO:0045589]; regulatory T cell differentiation [GO:0045066]; T cell activation [GO:0042110]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=P10747-1; Sequence=Displayed; Name=2; Synonyms=CD28-S2; IsoId=P10747-2; Sequence=VSP_002494; Name=3; Synonyms=CD28i; IsoId=P10747-3; Sequence=VSP_002495; Name=4; Synonyms=CD28-S1; IsoId=P10747-4; Sequence=VSP_002496; Name=5; IsoId=P10747-5; Sequence=VSP_002495, VSP_002497, VSP_002498; Name=6; Synonyms=CD28-S3; IsoId=P10747-6; Sequence=VSP_002495, VSP_002499; Name=7; IsoId=P10747-7; Sequence=VSP_047701; 

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 3: Cell surface {ECO:0000269|PubMed:15067037}.


uniprotID: P30260
geneSymbol: CDC27
pdb: 3T1N;4RG6;4RG7;4RG9;4UI9;5A31;5G04;5G05;5KHR;5KHU;5L9T;5L9U;5LCW;
length: 824
go: ENSG00000004897;
snps: rs13666
location: SUBCELLULAR LOCATION: Nucleus.
name:
Cell division cycle protein 27 homolog (Anaphase-promoting complex subunit 3) (APC3) (CDC27 homolog) (CDC27Hs) (H-NUC)

sequence:

opentargets:
anaphase-promoting complex [GO:0005680]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle [GO:0005819]; protein phosphatase binding [GO:0019903]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell proliferation [GO:0008283]; metaphase/anaphase transition of mitotic cell cycle [GO:0007091]; protein K11-linked ubiquitination [GO:0070979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30260-1; Sequence=Displayed; Name=2; IsoId=P30260-2; Sequence=VSP_047225; Note=No experimental confirmation available. May be due to competing acceptor splice site.; 


uniprotID: O95067
geneSymbol: CCNB2
name: G2/mitotic-specific cyclin-B2
length: 398
go: ENSG00000157456;
snps: rs16941036 rs2306785 rs28383563
reactome:
R-HSA-156711;R-HSA-162658;R-HSA-2500257;R-HSA-2514853;R-HSA-2565942;R-HSA-2980767;R-HSA-3301854;R-HSA-69273;R-HSA-69478;R-HSA-8852276;

sequence:

opentargets:
centrosome [GO:0005813]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; microtubule cytoskeleton [GO:0015630]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; G2/M transition of mitotic cell cycle [GO:0000086]; in utero embryonic development [GO:0001701]; mitotic cell cycle [GO:0000278]; mitotic nuclear envelope disassembly [GO:0007077]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; regulation of cell cycle [GO:0051726]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of growth [GO:0040008]; regulation of mitotic nuclear division [GO:0007088]; T cell homeostasis [GO:0043029]; thymus development [GO:0048538]


uniprotID: Q13740
geneSymbol: ALCAM
reactome: R-HSA-373760;
pdb: 1KJC;5A2F;
name: CD166 antigen (Activated leukocyte cell adhesion molecule) (CD antigen CD166)
length: 583
go: ENSG00000170017;
snps: rs10933819 rs1044240 rs1044243 rs12629872 rs2291375 rs34926152
sequence:

opentargets:
axon [GO:0030424]; dendrite [GO:0030425]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; immunological synapse [GO:0001772]; integral component of plasma membrane [GO:0005887]; intrinsic component of plasma membrane [GO:0031226]; neuronal cell body [GO:0043025]; identical protein binding [GO:0042802]; signaling receptor binding [GO:0005102]; adaptive immune response [GO:0002250]; axon extension involved in axon guidance [GO:0048846]; cell adhesion [GO:0007155]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; motor neuron axon guidance [GO:0008045]; neuron projection extension [GO:1990138]; retinal ganglion cell axon guidance [GO:0031290]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13740-1; Sequence=Displayed; Name=2; IsoId=Q13740-2; Sequence=VSP_021797; Name=3; Synonyms=sALCAM; IsoId=Q13740-3; Sequence=VSP_053530, VSP_053531; Note=Secreted form, inhibits isoform 1 homophilic interaction.; Name=4; IsoId=Q13740-4; Sequence=VSP_053529, VSP_053532; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15048703, ECO:0000269|PubMed:15294938, ECO:0000269|PubMed:16352806, ECO:0000269|PubMed:23169771, ECO:0000269|PubMed:24740813, ECO:0000269|PubMed:24945728, ECO:0000269|PubMed:7760007}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:Q61490}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q61490}. Note=Detected at the immunological synapse, i.e, at the contact zone between antigen-presenting dendritic cells and T-cells (PubMed:15294938, PubMed:16352806). Colocalizes with CD6 and the TCR/CD3 complex at the immunological synapse (PubMed:15294938). {ECO:0000269|PubMed:15294938, ECO:0000269|PubMed:16352806}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000269|PubMed:15496415}.


uniprotID: P01730
geneSymbol: CD4
name: T-cell surface glycoprotein CD4 (T-cell surface antigen T4/Leu-3) (CD antigen CD4)
length: 458
go: ENSG00000010610;
drug: DB00098;
snps: rs28917504 rs11064419 rs28919570
reactome:
R-HSA-1462054;R-HSA-167590;R-HSA-173107;R-HSA-180534;R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-389948;R-HSA-449836;R-HSA-8856825;R-HSA-8856828;

pdb:
1CDH;1CDI;1CDJ;1CDU;1CDY;1G9M;1G9N;1GC1;1JL4;1OPN;1OPT;1OPW;1Q68;1RZJ;1RZK;1WBR;1WIO;1WIP;1WIQ;2B4C;2JKR;2JKT;2KLU;2NXY;2NXZ;2NY0;2NY1;2NY2;2NY3;2NY4;2NY5;2NY6;2QAD;3B71;3CD4;3J70;3JCB;3JCC;3JWD;3JWO;3LQA;3O2D;3S4S;3S5L;3T0E;4H8W;4JM2;4P9H;4Q6I;4R2G;4R4H;4RQS;5A7X;5A8H;5CAY;5THR;5U1F;5VN3;

sequence:

opentargets:
clathrin-coated vesicle membrane [GO:0030665]; early endosome [GO:0005769]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; T cell receptor complex [GO:0042101]; coreceptor activity [GO:0015026]; enzyme binding [GO:0019899]; extracellular matrix structural constituent [GO:0005201]; identical protein binding [GO:0042802]; immunoglobulin binding [GO:0019865]; interleukin-16 binding [GO:0042011]; interleukin-16 receptor activity [GO:0042012]; MHC class II protein binding [GO:0042289]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein tyrosine kinase binding [GO:1990782]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; virus receptor activity [GO:0001618]; zinc ion binding [GO:0008270]; adaptive immune response [GO:0002250]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; cellular response to granulocyte macrophage colony-stimulating factor stimulus [GO:0097011]; cytokine production [GO:0001816]; cytokine-mediated signaling pathway [GO:0019221]; defense response to Gram-negative bacterium [GO:0050829]; entry into host cell [GO:0030260]; enzyme linked receptor protein signaling pathway [GO:0007167]; fusion of virus membrane with host plasma membrane [GO:0019064]; helper T cell enhancement of adaptive immune response [GO:0035397]; immune response [GO:0006955]; induction by virus of host cell-cell fusion [GO:0006948]; interleukin-15-mediated signaling pathway [GO:0035723]; maintenance of protein location in cell [GO:0032507]; membrane organization [GO:0061024]; positive regulation of calcium ion transport into cytosol [GO:0010524]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of kinase activity [GO:0033674]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of monocyte differentiation [GO:0045657]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of viral entry into host cell [GO:0046598]; regulation of calcium ion transport [GO:0051924]; regulation of defense response to virus by virus [GO:0050690]; regulation of T cell activation [GO:0050863]; response to estradiol [GO:0032355]; response to vitamin D [GO:0033280]; signal transduction [GO:0007165]; T cell activation [GO:0042110]; T cell differentiation [GO:0030217]; T cell receptor signaling pathway [GO:0050852]; T cell selection [GO:0045058]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12089508, ECO:0000269|PubMed:12517957, ECO:0000269|PubMed:2823150, ECO:0000269|PubMed:2990730}; Single-pass type I membrane protein {ECO:0000269|PubMed:12517957, ECO:0000269|PubMed:15340161, ECO:0000269|PubMed:1708753}. Note=Localizes to lipid rafts (PubMed:12517957, PubMed:9168119). Removed from plasma membrane by HIV-1 Nef protein that increases clathrin-dependent endocytosis of this antigen to target it to lysosomal degradation. Cell surface expression is also down-modulated by HIV-1 Envelope polyprotein gp160 that interacts with, and sequesters CD4 in the endoplasmic reticulum.


uniprotID: Q99741
geneSymbol: CDC6
pdb: 2CCH;2CCI;4I5L;4I5N;
length: 560
go: ENSG00000094804;
snps: rs4135010 rs4135012 rs4135013 rs387906842 rs4135016 rs13706
reactome:
R-HSA-1362277;R-HSA-176187;R-HSA-539107;R-HSA-68689;R-HSA-68827;R-HSA-68867;R-HSA-68949;R-HSA-68962;R-HSA-69017;

name:
Cell division control protein 6 homolog (CDC6-related protein) (Cdc18-related protein) (HsCdc18) (p62(cdc6)) (HsCDC6)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle midzone [GO:0051233]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; DNA replication origin binding [GO:0003688]; kinase binding [GO:0019900]; nucleotide binding [GO:0000166]; cell division [GO:0051301]; cellular response to angiotensin [GO:1904385]; cellular response to vasopressin [GO:1904117]; DNA replication [GO:0006260]; DNA replication checkpoint [GO:0000076]; DNA replication initiation [GO:0006270]; G1/S transition of mitotic cell cycle [GO:0000082]; mitotic cell cycle [GO:0000278]; mitotic DNA replication checkpoint [GO:0033314]; negative regulation of cell proliferation [GO:0008285]; negative regulation of DNA replication [GO:0008156]; positive regulation of chromosome segregation [GO:0051984]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of cytokinesis [GO:0032467]; positive regulation of fibroblast proliferation [GO:0048146]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic metaphase/anaphase transition [GO:0030071]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; traversing start control point of mitotic cell cycle [GO:0007089]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9566895}. Cytoplasm {ECO:0000269|PubMed:9566895}. Note=The protein is nuclear in G1 and cytoplasmic in S-phase cells (PubMed:9566895). {ECO:0000269|PubMed:9566895}.


uniprotID: Q9HCU0
geneSymbol: CD248
name: Endosialin (Tumor endothelial marker 1) (CD antigen CD248)
length: 757
go: ENSG00000174807;
snps: rs3741367
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; extracellular matrix binding [GO:0050840]; extracellular matrix protein binding [GO:1990430]; anatomical structure regression [GO:0060033]; cell migration [GO:0016477]; lymph node development [GO:0048535]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endothelial cell apoptotic process [GO:2000353]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCU0-1; Sequence=Displayed; Name=2; IsoId=Q9HCU0-2; Sequence=VSP_017087; Note=No experimental confirmation available.; 


uniprotID: Q16880
geneSymbol: UGT8
reactome: R-HSA-1660662;
length: 541
go: ENSG00000174607;
snps: rs4148254 rs11098261
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
2-hydroxyacylsphingosine 1-beta-galactosyltransferase (EC 2.4.1.47) (Ceramide UDP-galactosyltransferase) (Cerebroside synthase) (UDP-galactose-ceramide galactosyltransferase)

sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; N-acylsphingosine galactosyltransferase activity [GO:0047263]; UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity [GO:0008489]; UDP-glycosyltransferase activity [GO:0008194]; central nervous system development [GO:0007417]; cytoskeleton organization [GO:0007010]; galactosylceramide biosynthetic process [GO:0006682]; glycosphingolipid metabolic process [GO:0006687]; neuron projection morphogenesis [GO:0048812]; paranodal junction assembly [GO:0030913]; peripheral nervous system development [GO:0007422]; protein localization to paranode region of axon [GO:0002175]


uniprotID: Q8N9H6
geneSymbol: C8orf31
name: Putative uncharacterized protein C8orf31
length: 132
snps: rs11136300
sequence:
MAEKPHQNSCNSVRQLFKTKQLVTHRDRGSCTHRAQGLLAARTTALQRSPLQQEIWESTTALNLPSALAPQGLTAKDAHFLGDTDPIQEGARDHAAGGPFQDRQASVAAQTLSWERGQGFSRHHGNHLLYSH

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9H6-1; Sequence=Displayed; Name=2; IsoId=Q8N9H6-2; Sequence=VSP_026610, VSP_026611; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q7Z7K6
geneSymbol: CENPV
name: Centromere protein V (CENP-V) (Nuclear protein p30) (Proline-rich protein 6)
length: 275
go: ENSG00000166582;
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; kinetochore [GO:0000776]; microtubule cytoskeleton [GO:0015630]; nucleus [GO:0005634]; spindle midzone [GO:0051233]; carbon-sulfur lyase activity [GO:0016846]; ameboidal-type cell migration [GO:0001667]; cell cycle [GO:0007049]; cell division [GO:0051301]; centromere complex assembly [GO:0034508]; pericentric heterochromatin assembly [GO:0031508]; positive regulation of cytokinesis [GO:0032467]; regulation of chromosome organization [GO:0033044]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z7K6-1; Sequence=Displayed; Name=2; IsoId=Q7Z7K6-2; Sequence=VSP_019549; Name=3; IsoId=Q7Z7K6-3; Sequence=VSP_019550; 

location:
SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore {ECO:0000269|PubMed:18772885}. Nucleus {ECO:0000269|PubMed:12196509}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:18772885}. Note=Enriched at the nuclear periphery and around the nucleolus (PubMed:12196509). In mitotic cells, localizes to kinetochores from prometaphase to metaphase (PubMed:18772885). At anaphase onset, transfers to the spindle midzone and then to the mid-body in telophase and cytokinesis (PubMed:18772885).


uniprotID: Q5EE01
geneSymbol: CENPW
reactome: R-HSA-606279;
name: Centromere protein W (CENP-W) (Cancer-up-regulated gene 2 protein)
sequence: MALSTIVSQRKQIKRKAPRGFLKRVFKRKKPQLRLEKSGDLLVHLNCLLFVHRLAEESRTNACASKCRVINKEHVLAAAKVILKKSRG
length: 88
go: ENSG00000203760;
opentargets:
chromosome, centromeric region [GO:0000775]; condensed chromosome kinetochore [GO:0000777]; kinetochore [GO:0000776]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; cell division [GO:0051301]; CENP-A containing nucleosome assembly [GO:0034080]; chromosome organization [GO:0051276]; chromosome segregation [GO:0007059]; kinetochore assembly [GO:0051382]; mitotic cell cycle [GO:0000278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5EE01-1; Sequence=Displayed; Name=2; IsoId=Q5EE01-2; Sequence=VSP_055708; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17610844}. Chromosome, centromere {ECO:0000269|PubMed:19070575, ECO:0000269|PubMed:19533040, ECO:0000269|PubMed:22304917}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:19070575, ECO:0000269|PubMed:22304917}. Nucleus matrix {ECO:0000269|PubMed:22002061}. Nucleus, nucleolus {ECO:0000269|PubMed:22002061}. Note=Constitutively localizes to centromeres throughout the cell cycle, and to the inner kinetochore during mitosis. {ECO:0000250|UniProtKB:P0DJH6}.


uniprotID: Q8WTZ4
geneSymbol: CA5BP1
name: Putative inactive carbonic anhydrase 5B-like protein (CA-VB-like protein)
length: 195
sequence:
MTQPPASTSGIMGTLSSWNLKILQINQLHLVHWNAVKFENFEDAALEENGLAVIGVFLKISETSGSPVSTGRPKPLARKLRPAQKHWVLQSRPFLSSQVQENCKVTYFHRKHWVRIRPLRTTPPSWDYTRICIQREMVPARIRVLREMVPEAWRCFPNRLPLLSNIRPDFSKAPLAYVKRWLWTARHPHSLSAAW

opentargets:
mitochondrion [GO:0005739]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]


uniprotID: Q9H246
geneSymbol: C1orf21
name: Uncharacterized protein C1orf21 (Cell proliferation-inducing gene 13 protein)
length: 121
go: ENSG00000116667;
sequence:
MGCASAKHVATVQNEEEAQKGKNYQNGDVFGDEYRIKPVEEVKYMKNGAEEEQKIAARNQENLEKSASSNVRLKTNKEVPGLVHQPRANMHISESQQEFFRMLDEKIEKGRDYCSEEEDIT


uniprotID: Q9NWV4
geneSymbol: C1orf123
pdb: 5ZRT;
name: UPF0587 protein C1orf123
length: 160
go: ENSG00000162384;
sequence:
MGKIALQLKATLENITNLRPVGEDFRWYLKMKCGNCGEISDKWQYIRLMDSVALKGGRGSASMVQKCKLCARENSIEILSSTIKPYNAEDNENFKTIVEFECRGLEPVDFQPQAGFAAEGVESGTAFSDINLQEKDWTDYDEKAQESVGIYEVTHQFVKC


uniprotID: Q8IYL3
geneSymbol: C1orf174
name: UPF0688 protein C1orf174
length: 243
go: ENSG00000198912;
opentargets: nucleus [GO:0005634]
snps: rs4274008 rs10909820 rs12036962
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22361696}.
sequence:


uniprotID: O95180
geneSymbol: CACNA1H
reactome: R-HSA-419037;
length: 2353
go: ENSG00000196557;
drug: DB01118;DB01244;DB00568;DB01023;DB04841;DB00270;DB01388;DB01115;DB01054;DB00421;DB00909;
name:
Voltage-dependent T-type calcium channel subunit alpha-1H (Low-voltage-activated calcium channel alpha1 3.2 subunit) (Voltage-gated calcium channel subunit alpha Cav3.2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; low voltage-gated calcium channel activity [GO:0008332]; metal ion binding [GO:0046872]; scaffold protein binding [GO:0097110]; voltage-gated ion channel activity [GO:0005244]; aldosterone biosynthetic process [GO:0032342]; calcium ion import [GO:0070509]; cellular response to hormone stimulus [GO:0032870]; cellular response to potassium ion [GO:0035865]; cortisol biosynthetic process [GO:0034651]; inorganic cation transmembrane transport [GO:0098662]; membrane depolarization during action potential [GO:0086010]; muscle contraction [GO:0006936]; muscle organ development [GO:0007517]; myoblast fusion [GO:0007520]; neuronal action potential [GO:0019228]; positive regulation of acrosome reaction [GO:2000344]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; regulation of heart contraction [GO:0008016]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]

snps:
rs119454947 rs780596901 rs119454948 rs36117280 rs560915333 rs1057519554 rs60734921 rs61734410 rs1288484976 rs4984636 rs762185083 rs373764821 rs770371468 rs142306293 rs267606697 rs779526640 rs3751664 rs28365119 rs119454949 rs374272094 rs542245543 rs786205050 rs58124832 rs746967306 rs3751886 rs1054644 rs1054645 rs759924732 rs200675829 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A1H-a; IsoId=O95180-1; Sequence=Displayed; Name=2; Synonyms=A1H-b; IsoId=O95180-2; Sequence=VSP_000949; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25907736, ECO:0000269|PubMed:27149520, ECO:0000269|PubMed:27729216, ECO:0000269|PubMed:9670923, ECO:0000269|PubMed:9930755}; Multi-pass membrane protein {ECO:0000305}. Note=Interaction with STAC increases expression at the cell membrane. {ECO:0000269|PubMed:27149520}.


uniprotID: O95561
geneSymbol: C1orf105
name: Uncharacterized protein C1orf105
length: 183
go: ENSG00000180999;
snps: rs16844498 rs1129942
sequence:
MEKRELKASVPKFDKIPWLSEASLVNKPLVLSLPRRYPHTSATFLTSSKKNMNLPILFQVPDVLSKARRNQCDSMLLRNQQLCSTCQEMKMVQPRTMKIPDDPKASFENCMSYRMSLHQPKFQTTPEPFHDDIPTESIHYRLPILGPRTAVFHGLLTEAYKTLKERQRSSLPRKEPIGKTTRQ


uniprotID: Q5VU97
geneSymbol: CACHD1
name: VWFA and cache domain-containing protein 1 (Cache domain-containing protein 1)
length: 1274
snps: rs6588100
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
voltage-gated calcium channel complex [GO:0005891]; voltage-gated calcium channel activity [GO:0005245]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VU97-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5VU97-2; Sequence=VSP_028072; 


uniprotID: Q08AD1
geneSymbol: CAMSAP2
length: 1489
go: ENSG00000118200;
snps: rs3753952 rs3753952 rs6674599 rs6674599
name:
Calmodulin-regulated spectrin-associated protein 2 (Calmodulin-regulated spectrin-associated protein 1-like protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; microtubule end [GO:1990752]; calmodulin binding [GO:0005516]; microtubule minus-end binding [GO:0051011]; spectrin binding [GO:0030507]; axon development [GO:0061564]; cytoplasmic microtubule organization [GO:0031122]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of microtubule depolymerization [GO:0007026]; regulation of dendrite development [GO:0050773]; regulation of Golgi organization [GO:1903358]; regulation of microtubule polymerization [GO:0031113]; regulation of organelle organization [GO:0033043]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q08AD1-1; Sequence=Displayed; Name=2; IsoId=Q08AD1-2; Sequence=VSP_030805, VSP_030806; Note=No experimental confirmation available.; Name=3; IsoId=Q08AD1-3; Sequence=VSP_030805; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:23169647, ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:24706919, ECO:0000269|PubMed:24908486, ECO:0000269|PubMed:27666745, ECO:0000269|PubMed:28814570}. Golgi apparatus {ECO:0000269|PubMed:27666745}. Note=Associated with the minus-end of microtubules and also detected at the centrosomes (PubMed:23169647, PubMed:24486153, PubMed:24908486, PubMed:24706919, PubMed:27666745, PubMed:28814570). Decorates the minus-end of microtubules by decreasing the rate of tubulin incorporation and remaining bound (PubMed:24486153). The length of CAMSAP2-decorated stretches on the minus-end of microtubules depends on MAPRE1/EB1 and MAPRE3/EB3, which promote elongation of CAMSAP2-decorated microtubule stretches (PubMed:28814570). Recruited to the Golgi apparatus by AKAP9 and PDE4DIP isoform 13/MMG8/SMYLE (PubMed:27666745). In neurons, localizes to the minus-end of microtubules in axon and dendrites (PubMed:24908486). {ECO:0000269|PubMed:23169647, ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:24706919, ECO:0000269|PubMed:27666745, ECO:0000269|PubMed:28814570}.


uniprotID: Q5JW98
geneSymbol: CALHM4
name: Calcium homeostasis modulator protein 4 (Protein FAM26D)
length: 314
go: ENSG00000164451;
opentargets: integral component of plasma membrane [GO:0005887]; ion transport [GO:0006811]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5JW98-1; Sequence=Displayed; Name=2; IsoId=Q5JW98-2; Sequence=VSP_013817; Name=3; IsoId=Q5JW98-3; Sequence=VSP_018252; Name=4; IsoId=Q5JW98-4; Sequence=VSP_045216; 


uniprotID: Q8IYE1
geneSymbol: CCDC13
name: Coiled-coil domain-containing protein 13
length: 715
go: ENSG00000244607;
snps: rs17238798 rs17853515 rs12495805
sequence:

opentargets:
cell projection [GO:0042995]; centriolar satellite [GO:0034451]; centrosome [GO:0005813]; cytosol [GO:0005829]; nucleus [GO:0005634]; cellular response to DNA damage stimulus [GO:0006974]; cytoplasmic microtubule organization [GO:0031122]; non-motile cilium assembly [GO:1905515]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:24816561}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:24816561}.


uniprotID: Q13042
geneSymbol: CDC16
pdb: 3HYM;4UI9;5A31;5G04;5G05;5KHR;5KHU;5L9T;5L9U;5LCW;
length: 620
go: ENSG00000130177;
name:
Cell division cycle protein 16 homolog (Anaphase-promoting complex subunit 6) (APC6) (CDC16 homolog) (CDC16Hs) (Cyclosome subunit 6)

sequence:

opentargets:
anaphase-promoting complex [GO:0005680]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; spindle [GO:0005819]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell division [GO:0051301]; cell proliferation [GO:0008283]; mitotic cell cycle [GO:0000278]; protein K11-linked ubiquitination [GO:0070979]; regulation of mitotic nuclear division [GO:0007088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13042-1; Sequence=Displayed; Name=2; IsoId=Q13042-2; Sequence=VSP_008427; Note=No experimental confirmation available.; Name=3; IsoId=Q13042-3; Sequence=VSP_008427, VSP_008428; Name=4; IsoId=Q13042-4; Sequence=VSP_057270; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:7736578}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:7736578}. Note=Colocalizes with CDC27 to the centrosome at all stages of the cell cycle and to the mitotic spindle.


uniprotID: P20963
geneSymbol: CD247
pdb: 1TCE;1YGR;2HAC;2OQ1;3IK5;3IOZ;4XZ1;
name: T-cell surface glycoprotein CD3 zeta chain (T-cell receptor T3 zeta chain) (CD antigen CD247)
length: 164
go: ENSG00000198821;
drug: DB00075;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
reactome:
R-HSA-164944;R-HSA-198933;R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-389948;

sequence:
MKWKALFTAAILQAQLPITEAQSFGLLDPKLCYLLDGILFIYGVILTALFLRVKFSRSADAPAYQQGQNQLYNELNLGRREEYDVLDKRRGRDPEMGGKPQRRKNPQEGLYNELQKDKMAEAYSEIGMKGERRRGKGHDGLYQGLSTATKDTYDALHMQALPPR

opentargets:
alpha-beta T cell receptor complex [GO:0042105]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; T cell receptor complex [GO:0042101]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; protein tyrosine kinase binding [GO:1990782]; transmembrane signaling receptor activity [GO:0004888]; adaptive immune response [GO:0002250]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; interleukin-2 production [GO:0032623]; positive regulation of protein localization to cell surface [GO:2000010]; protein homotetramerization [GO:0051289]; protein homotrimerization [GO:0070207]; regulation of defense response to virus by virus [GO:0050690]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CD-3-zeta; IsoId=P20963-1; Sequence=Displayed; Name=2; Synonyms=CD-3-eta; IsoId=P20963-2; Sequence=Not described; Name=3; IsoId=P20963-3; Sequence=VSP_036459; 


uniprotID: P19397
geneSymbol: CD53
reactome: R-HSA-6798695;
length: 219
go: ENSG00000143119;
name:
Leukocyte surface antigen CD53 (Cell surface glycoprotein CD53) (Tetraspanin-25) (Tspan-25) (CD antigen CD53)

sequence:

opentargets:
cell-cell junction [GO:0005911]; extracellular exosome [GO:0070062]; immunological synapse [GO:0001772]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; cell surface receptor signaling pathway [GO:0007166]; neutrophil degranulation [GO:0043312]; positive regulation of myoblast fusion [GO:1901741]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}. Cell junction {ECO:0000250}. Membrane; Multi-pass membrane protein. Note=Concentrates in localized microdomains along the plasma membrane at the contact sites between cells of fused myotubes. {ECO:0000250}.


uniprotID: P39059
geneSymbol: COL15A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-2022090;R-HSA-8948216;
pdb: 3N3F;
length: 1388
go: ENSG00000204291;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
Collagen alpha-1(XV) chain [Cleaved into: Restin (Endostatin-XV) (Related to endostatin) (Restin-I); Restin-2 (Restin-II); Restin-3 (Restin-III); Restin-4 (Restin-IV)]

sequence:

opentargets:
collagen type XV trimer [GO:0005582]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; angiogenesis [GO:0001525]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; collagen catabolic process [GO:0030574]; extracellular matrix organization [GO:0030198]; signal transduction [GO:0007165]

snps:
rs2075662 rs2075663 rs10988532 rs16918128 rs35934703 rs2297603 rs35250850 rs35529307 rs41308900 rs35642150 rs35544077 rs10519 


uniprotID: O14579
geneSymbol: COPE
reactome: R-HSA-6807878;R-HSA-6811434;
name: Coatomer subunit epsilon (Epsilon-coat protein) (Epsilon-COP)
length: 308
go: ENSG00000105669;
snps: rs2231987 rs10330
sequence:

opentargets:
COPI vesicle coat [GO:0030126]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; nucleoplasm [GO:0005654]; transport vesicle [GO:0030133]; structural molecule activity [GO:0005198]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]; protein transport [GO:0015031]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O14579-1; Sequence=Displayed; Name=2; IsoId=O14579-2; Sequence=VSP_042770, VSP_042771; Note=No experimental confirmation available.; Name=3; IsoId=O14579-3; Sequence=VSP_045070; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. {ECO:0000250}.


uniprotID: Q6UWE3
geneSymbol: CLPSL2
name: Colipase-like protein 2
length: 100
go: ENSG00000196748;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MAAALALVAGVLSGAVLPLWSALPQYKKKITDRCFHHSECYSGCCLMDLDSGGAFCAPRARITMICLPQTKGATNIICPCRMGLTCISKDLMCSRRCHMI

opentargets:
extracellular region [GO:0005576]; enzyme activator activity [GO:0008047]; digestion [GO:0007586]; lipid catabolic process [GO:0016042]; response to food [GO:0032094]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWE3-1; Sequence=Displayed; Name=2; IsoId=Q6UWE3-2; Sequence=VSP_035621; 


uniprotID: P39060
geneSymbol: COL18A1
reactome: R-HSA-1442490;R-HSA-1592389;R-HSA-1650814;R-HSA-2022090;R-HSA-216083;R-HSA-3000157;R-HSA-8948216;
pdb: 1BNL;3HON;3HSH;
name: Collagen alpha-1(XVIII) chain [Cleaved into: Endostatin; Non-collagenous domain 1 (NC1)]
length: 1754
go: ENSG00000182871;
snps: rs61735029 rs114139997 rs11702494 rs8133886 rs62000962 rs79980197 rs2230693 rs12483377
sequence:

opentargets:
basement membrane [GO:0005604]; collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; angiogenesis [GO:0001525]; animal organ morphogenesis [GO:0009887]; cell adhesion [GO:0007155]; endothelial cell morphogenesis [GO:0001886]; extracellular matrix organization [GO:0030198]; negative regulation of cell proliferation [GO:0008285]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endothelial cell apoptotic process [GO:2000353]; response to drug [GO:0042493]; response to hydrostatic pressure [GO:0051599]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Name=1; Synonyms=NC1-728; IsoId=P39060-3; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; Synonyms=Long, NC-493; IsoId=P39060-1; Sequence=VSP_023131; Note=Produced by alternative splicing of isoform 1.; Name=3; Synonyms=Short, NC1-303; IsoId=P39060-2; Sequence=VSP_023130, VSP_023132; Note=Produced by alternative promoter usage.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}. Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250|UniProtKB:P39061}.; SUBCELLULAR LOCATION: Non-collagenous domain 1: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250|UniProtKB:P39061}. Secreted {ECO:0000250|UniProtKB:P39061}.; SUBCELLULAR LOCATION: Endostatin: Secreted {ECO:0000269|PubMed:10441114}. Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000305}.


uniprotID: Q9HAK2
geneSymbol: EBF2
name: Transcription factor COE2 (Early B-cell factor 2) (EBF-2)
length: 575
go: ENSG00000221818;
snps: rs17054477
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; adipose tissue development [GO:0060612]; brown fat cell differentiation [GO:0050873]; cell fate determination [GO:0001709]; positive regulation of chromatin binding [GO:0035563]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HAK2-1; Sequence=Displayed; Name=2; IsoId=Q9HAK2-2; Sequence=VSP_055530, VSP_055531; 


uniprotID: P38432
geneSymbol: COIL
name: Coilin (p80-coilin)
length: 576
go: ENSG00000121058;
sequence:

opentargets:
Cajal body [GO:0015030]; fibrillar center [GO:0001650]; membrane [GO:0016020]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; protein C-terminus binding [GO:0008022]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:7679389}. Nucleus, Cajal body {ECO:0000269|PubMed:16079131, ECO:0000269|PubMed:22547674, ECO:0000269|PubMed:7679389}.


uniprotID: P13942
geneSymbol: COL11A2
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-2022090;R-HSA-3000171;R-HSA-8874081;R-HSA-8948216;
name: Collagen alpha-2(XI) chain
length: 1736
go: ENSG00000204248;
sequence:

opentargets:
collagen trimer [GO:0005581]; collagen type XI trimer [GO:0005592]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; metal ion binding [GO:0046872]; protein binding, bridging [GO:0030674]; cartilage development [GO:0051216]; collagen fibril organization [GO:0030199]; extracellular matrix organization [GO:0030198]; roof of mouth development [GO:0060021]; sensory perception of sound [GO:0007605]; skeletal system development [GO:0001501]; soft palate development [GO:0060023]

snps:
rs606231410 rs35116188 rs9277934 rs121912952 rs121912945 rs121912948 rs1799909 rs747883362 rs864309523 rs2855430 rs121912947 rs2229784 rs555936333 rs121912946 rs1799912 rs2229790 rs2229792 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Comment=Isoforms lack exons 6, 7 or 8 or a combination of these exons. Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=P13942-1; Sequence=Displayed; Name=2; IsoId=P13942-2; Sequence=VSP_001167; Name=3; IsoId=P13942-3; Sequence=VSP_001168; Name=4; IsoId=P13942-4; Sequence=VSP_001169; Name=5; IsoId=P13942-5; Sequence=VSP_001167, VSP_001168; Name=6; IsoId=P13942-6; Sequence=VSP_001167, VSP_001169; Name=7; IsoId=P13942-7; Sequence=VSP_001168, VSP_001169; Name=8; IsoId=P13942-8; Sequence=VSP_001167, VSP_001168, VSP_001169; Name=9; IsoId=P13942-9; Sequence=VSP_043432, VSP_043433; Note=No experimental confirmation available.; 


uniprotID: P53618
geneSymbol: COPB1
reactome: R-HSA-6798695;R-HSA-6807878;R-HSA-6811434;
name: Coatomer subunit beta (Beta-coat protein) (Beta-COP)
length: 953
go: ENSG00000129083;
sequence:

opentargets:
COPI vesicle coat [GO:0030126]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; ficolin-1-rich granule membrane [GO:0101003]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi-associated vesicle [GO:0005798]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; tertiary granule membrane [GO:0070821]; transport vesicle [GO:0030133]; structural molecule activity [GO:0005198]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]; intracellular protein transport [GO:0006886]; neutrophil degranulation [GO:0043312]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus membrane {ECO:0000269|PubMed:11056392, ECO:0000269|PubMed:17451557, ECO:0000269|PubMed:7573041}; Peripheral membrane protein {ECO:0000269|PubMed:17451557, ECO:0000269|PubMed:18385291, ECO:0000269|PubMed:20056612}; Cytoplasmic side {ECO:0000305}. Cytoplasmic vesicle, COPI-coated vesicle membrane; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:20362547}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000250|UniProtKB:Q9JIF7}. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it (By similarity). Proteolytic cleavage by CAPN8 triggers translocation from Golgi to cytoplasm (By similarity). Found in perinuclear vesicular-tubular clusters (VTCs) and in the Golgi region where associated with vesicles, buds and rims of the Golgi stack (By similarity). Occasionally present at the trans-side of Golgi, but mainly present at the cis-Golgi side in transitional areas (TA), on so-called peripheral elements (PE) consisting of tubules and vesicles located between the cup-shaped transitional elements (TE) of the rough endoplasmic reticulum (RER) and the cis-most Golgi cisternae (By similarity). Present in cytoplasm, not associated with visible coats or membranes, with a minor fraction present on small clusters of tubules and vesicles (By similarity). Some association with high-density and low-density microsomes and mitochondria/nuclei fraction (By similarity). Very little found in plasma membrane fraction (PubMed:20362547). {ECO:0000250|UniProtKB:P23514, ECO:0000269|PubMed:20362547}.


uniprotID: Q6ZS62
geneSymbol: COLCA1
name: Colorectal cancer-associated protein 1
length: 124
opentargets: integral component of membrane [GO:0016021]; membrane [GO:0016020]
sequence:
MESCSVAQAGVLTSPFMWRWTGMAGALSALDNTIEDDADDQLPCGEGRPGWVRGELLGSQGVCKDSKDLFVPTSSSLYGCFCVGLVSGMAISVLLLASDFRKLDFSRPEPCFEKEASLWFVAQH

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:24154973}; Single-pass membrane protein {ECO:0000269|PubMed:24154973}. Note=Co-localizes with crystalloid granules of eosinophils and granular organelles of mast cells, neutrophils, macrophages and dendritic cells.


uniprotID: Q9UMD9
geneSymbol: COL17A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-198933;R-HSA-2022090;R-HSA-446107;R-HSA-8948216;
length: 1497
go: ENSG00000065618;
snps: rs17116471 rs805708 rs1054113 rs805698 rs121912773 rs805722 rs797045142 rs121912771 rs17116350
name:
Collagen alpha-1(XVII) chain (180 kDa bullous pemphigoid antigen 2) (Bullous pemphigoid antigen 2) [Cleaved into: 120 kDa linear IgA disease antigen (120 kDa linear IgA dermatosis antigen) (Linear IgA disease antigen 1) (LAD-1); 97 kDa linear IgA disease antigen (97 kDa linear IgA bullous dermatosis antigen) (97 kDa LAD antigen) (97-LAD) (Linear IgA bullous disease antigen of 97 kDa) (LABD97)]

sequence:

opentargets:
basement membrane [GO:0005604]; cell-cell junction [GO:0005911]; collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; hemidesmosome [GO:0030056]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; cell-matrix adhesion [GO:0007160]; epidermis development [GO:0008544]; extracellular matrix organization [GO:0030198]; hemidesmosome assembly [GO:0031581]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UMD9-1; Sequence=Displayed; Name=2; IsoId=Q9UMD9-2; Sequence=VSP_024940, VSP_024941; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell junction, hemidesmosome. Membrane; Single-pass type II membrane protein. Note=Localized along the plasma membrane of the hemidesmosome.; SUBCELLULAR LOCATION: 120 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Exclusively localized to anchoring filaments. Localized to the epidermal side of split skin.; SUBCELLULAR LOCATION: 97 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Localized in the lamina lucida beneath the hemidesmosomes.


uniprotID: O75128
geneSymbol: COBL
pdb: 4PL8;
name: Protein cordon-bleu
length: 1261
go: ENSG00000106078;
snps: rs17656599 rs10230120 rs2240090 rs2240089 rs17134128 rs17134127
sequence:

opentargets:
actin filament [GO:0005884]; axon [GO:0030424]; axonal growth cone [GO:0044295]; cell cortex [GO:0005938]; dendrite [GO:0030425]; dendritic growth cone [GO:0044294]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; actin monomer binding [GO:0003785]; actin filament network formation [GO:0051639]; actin filament polymerization [GO:0030041]; collateral sprouting in absence of injury [GO:0048669]; digestive tract development [GO:0048565]; embryonic axis specification [GO:0000578]; floor plate development [GO:0033504]; liver development [GO:0001889]; neural tube closure [GO:0001843]; notochord development [GO:0030903]; positive regulation of dendrite development [GO:1900006]; positive regulation of ruffle assembly [GO:1900029]; somite specification [GO:0001757]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=O75128-1; Sequence=Displayed; Name=2; IsoId=O75128-2; Sequence=VSP_021607, VSP_021608; Name=3; IsoId=O75128-3; Sequence=VSP_021613; Name=4; IsoId=O75128-4; Sequence=VSP_021609, VSP_021612; Name=5; IsoId=O75128-5; Sequence=VSP_021610, VSP_021611; Name=6; IsoId=O75128-6; Sequence=VSP_040711, VSP_040712; Note=No experimental confirmation available.; Name=7; IsoId=O75128-7; Sequence=VSP_021608, VSP_021613; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, ruffle {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Recruited to the cell membrane via interaction with PACSIN1. Colocalizes with the actin cytoskeleton. Detected throughout the neuron cell body, as well as in axons and dendrites (By similarity). {ECO:0000250}.


uniprotID: Q14746
geneSymbol: COG2
reactome: R-HSA-6807878;R-HSA-6811438;R-HSA-6811440;
length: 738
go: ENSG00000135775;
snps: rs34796217 rs6681346 rs34109129 rs1085307117
name:
Conserved oligomeric Golgi complex subunit 2 (COG complex subunit 2) (Component of oligomeric Golgi complex 2) (Low density lipoprotein receptor defect C-complementing protein)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; Golgi transport complex [GO:0017119]; trans-Golgi network membrane [GO:0032588]; protein transporter activity [GO:0008565]; protein-containing complex binding [GO:0044877]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; intra-Golgi vesicle-mediated transport [GO:0006891]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14746-1; Sequence=Displayed; Name=2; IsoId=Q14746-2; Sequence=VSP_042942; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}.


uniprotID: O43405
geneSymbol: COCH
pdb: 1JBI;
name: Cochlin (COCH-5B2)
length: 550
go: ENSG00000100473;
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; collagen binding [GO:0005518]; defense response to bacterium [GO:0042742]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]; positive regulation of innate immune response [GO:0045089]; regulation of cell shape [GO:0008360]; sensory perception of sound [GO:0007605]

snps:
rs28938175 rs121908927 rs121908928 rs121908930 rs121908929 rs121908931 rs28400035 rs28362775 rs1045644 rs28362778 rs121908934 rs17097468 rs1801963 rs121908932 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43405-1; Sequence=Displayed; Name=2; IsoId=O43405-2; Sequence=VSP_056538; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:12843317, ECO:0000269|PubMed:22610276}.


uniprotID: O15432
geneSymbol: SLC31A2
length: 143
go: ENSG00000136867;
drug: DB00958;DB00515;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Probable low affinity copper uptake protein 2 (Copper transporter 2) (hCTR2) (Solute carrier family 31 member 2)

sequence:
MAMHFIFSDTAVLLFDFWSVHSPAGMALSVLVLLLLAVLYEGIKVGKAKLLNQVLVNLPTSISQQTIAETDGDSAGSDSFPVGRTHHRWYLCHFGQSLIHVIQVVIGYFIMLAVMSYNTWIFLGVVLGSAVGYYLAYPLLSTA

opentargets:
integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; recycling endosome [GO:0055037]; copper ion transmembrane transporter activity [GO:0005375]; cellular copper ion homeostasis [GO:0006878]; copper ion transport [GO:0006825]; regulation of copper ion transmembrane transport [GO:1902311]


uniprotID: P21964
geneSymbol: COMT
reactome: R-HSA-156581;R-HSA-379397;R-HSA-379398;
pdb: 3A7E;3BWM;3BWY;4PYI;4PYJ;4PYK;4XUC;4XUD;4XUE;5LSA;
name: Catechol O-methyltransferase (EC 2.1.1.6)
length: 271
go: ENSG00000093010;
snps: rs6270 rs6267 rs5031015 rs4986871 rs4680
sequence:

opentargets:
axon [GO:0030424]; cell body [GO:0044297]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; catechol O-methyltransferase activity [GO:0016206]; L-dopa O-methyltransferase activity [GO:0102084]; magnesium ion binding [GO:0000287]; methyltransferase activity [GO:0008168]; O-methyltransferase activity [GO:0008171]; orcinol O-methyltransferase activity [GO:0102938]; catecholamine catabolic process [GO:0042424]; cellular response to phosphate starvation [GO:0016036]; developmental process [GO:0032502]; dopamine catabolic process [GO:0042420]; dopamine metabolic process [GO:0042417]; estrogen metabolic process [GO:0008210]; female pregnancy [GO:0007565]; learning [GO:0007612]; methylation [GO:0032259]; multicellular organismal reproductive process [GO:0048609]; negative regulation of dopamine metabolic process [GO:0045963]; negative regulation of renal sodium excretion [GO:0035814]; negative regulation of smooth muscle cell proliferation [GO:0048662]; neurotransmitter catabolic process [GO:0042135]; positive regulation of homocysteine metabolic process [GO:0050668]; regulation of sensory perception of pain [GO:0051930]; response to drug [GO:0042493]; response to estrogen [GO:0043627]; response to lipopolysaccharide [GO:0032496]; response to organic cyclic compound [GO:0014070]; response to pain [GO:0048265]; short-term memory [GO:0007614]

drug:
DB02342;DB03336;DB00286;DB00255;DB00841;DB00988;DB00494;DB00968;DB01141;DB04820;DB00118;DB01420;DB00323;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=Membrane-bound; Synonyms=MB-COMT; IsoId=P21964-1; Sequence=Displayed; Name=Soluble; Synonyms=S-COMT; IsoId=P21964-2; Sequence=VSP_018778; 

location:
SUBCELLULAR LOCATION: Isoform Soluble: Cytoplasm.; SUBCELLULAR LOCATION: Isoform Membrane-bound: Cell membrane; Single-pass type II membrane protein; Extracellular side {ECO:0000269|PubMed:21846718}.


uniprotID: Q9Y678
geneSymbol: COPG1
reactome: R-HSA-6807878;R-HSA-6811434;
pdb: 1R4X;
name: Coatomer subunit gamma-1 (Gamma-1-coat protein) (Gamma-1-COP)
length: 874
go: ENSG00000181789;
drug: DB03963;
snps: rs15648
sequence:

opentargets:
COPI vesicle coat [GO:0030126]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; transport vesicle [GO:0030133]; structural molecule activity [GO:0005198]; ER to Golgi vesicle-mediated transport [GO:0006888]; establishment of Golgi localization [GO:0051683]; intra-Golgi vesicle-mediated transport [GO:0006891]; intracellular protein transport [GO:0006886]; organelle transport along microtubule [GO:0072384]; protein secretion [GO:0009306]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11056392}. Golgi apparatus membrane {ECO:0000269|PubMed:11056392}; Peripheral membrane protein {ECO:0000269|PubMed:11056392}; Cytoplasmic side {ECO:0000269|PubMed:11056392}. Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. Predominantly located in the cis-Golgi apparatus. {ECO:0000250}.


uniprotID: Q9HCS2
geneSymbol: CYP4F12
reactome: R-HSA-211935;R-HSA-211979;
name: Cytochrome P450 4F12 (EC 1.14.14.1) (CYPIVF12)
length: 524
go: ENSG00000186204;
drug: DB08868;
snps: rs16995376 rs16995378 rs609636 rs609290 rs2285888 rs593818
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; alkane 1-monooxygenase activity [GO:0018685]; arachidonic acid epoxygenase activity [GO:0008392]; aromatase activity [GO:0070330]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; leukotriene-B4 20-monooxygenase activity [GO:0050051]; monooxygenase activity [GO:0004497]; arachidonic acid metabolic process [GO:0019369]; drug metabolic process [GO:0017144]; epoxygenase P450 pathway [GO:0019373]; leukotriene B4 catabolic process [GO:0036101]; long-chain fatty acid metabolic process [GO:0001676]; oxidation-reduction process [GO:0055114]; pressure natriuresis [GO:0003095]; renal water homeostasis [GO:0003091]; sodium ion homeostasis [GO:0055078]; very long-chain fatty acid metabolic process [GO:0000038]; vitamin E metabolic process [GO:0042360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCS2-1; Sequence=Displayed; Name=2; IsoId=Q9HCS2-2; Sequence=VSP_055581, VSP_055582; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q9BZB8
geneSymbol: CPEB1
pdb: 2M13;2MKE;2MKH;2MKK;2N1O;
length: 566
go: ENSG00000214575;
name:
Cytoplasmic polyadenylation element-binding protein 1 (CPE-BP1) (CPE-binding protein 1) (h-CPEB) (hCPEB-1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; messenger ribonucleoprotein complex [GO:1990124]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; metal ion binding [GO:0046872]; mRNA 3'-UTR AU-rich region binding [GO:0035925]; mRNA 3'-UTR binding [GO:0003730]; ribosome binding [GO:0043022]; translation factor activity, RNA binding [GO:0008135]; translation repressor activity, mRNA regulatory element binding [GO:0000900]; cellular response to amino acid stimulus [GO:0071230]; cellular response to hypoxia [GO:0071456]; cellular response to insulin stimulus [GO:0032869]; mRNA processing [GO:0006397]; negative regulation of cytoplasmic translation [GO:2000766]; positive regulation of mRNA polyadenylation [GO:1900365]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=hCPEB long, hCPEBg; IsoId=Q9BZB8-1; Sequence=Displayed; Name=2; Synonyms=hCPEB short, hCPEBs; IsoId=Q9BZB8-2; Sequence=VSP_022027; Name=3; IsoId=Q9BZB8-3; Sequence=VSP_022028, VSP_022029; Name=4; IsoId=Q9BZB8-4; Sequence=VSP_022027, VSP_022029; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18923137, ECO:0000269|PubMed:28383716}. Nucleus {ECO:0000269|PubMed:18923137}. Cytoplasm, P-body. Cytoplasmic granule. Cell junction, synapse. Membrane. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Note=Continuously shuttling between nucleus and cytoplasm (PubMed:18923137). Also found in stress granules. Recruited to stress granules (SGs) upon arsenite treatment. In dendrites (By similarity). Localizes in synaptosomes at dendritic synapses of neurons (By similarity). Strongly enriched in postsynaptic density (PSD) fractions (By similarity). Transported into dendrites in a microtubule-dependent fashion and colocalizes in mRNA-containing particles with TACC3, dynein and kinesin (By similarity). Membrane-associated (By similarity). Colocalizes at excitatory synapses with members of the polyadenylation and translation complex factors (CPSF, APLP1, TACC3, AURKA, SYP, etc.) including CPE-containing RNAs (By similarity). {ECO:0000250, ECO:0000269|PubMed:18923137}.


uniprotID: Q9NQ79
geneSymbol: CRTAC1
name: Cartilage acidic protein 1 (68 kDa chondrocyte-expressed protein) (CEP-68) (ASPIC)
length: 661
go: ENSG00000095713;
snps: rs35853031 rs2297935 rs56007204
sequence:

opentargets:
extracellular exosome [GO:0070062]; growth cone [GO:0030426]; calcium ion binding [GO:0005509]; axonal fasciculation [GO:0007413]; negative regulation of receptor binding [GO:1900121]; olfactory bulb development [GO:0021772]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CRTAC1-A; IsoId=Q9NQ79-1; Sequence=Displayed; Note=Shares an exon with the neighboring tail-to-tail oriented gene GOLGA7B.; Name=2; Synonyms=CRTAC1-B; IsoId=Q9NQ79-2; Sequence=VSP_010894, VSP_010895; Name=3; IsoId=Q9NQ79-3; Sequence=VSP_010893; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:17074475}.


uniprotID: Q5TCH4
geneSymbol: CYP4A22
reactome: R-HSA-211935;R-HSA-211958;R-HSA-211979;R-HSA-2142691;
length: 519
go: ENSG00000162365;
name:
Cytochrome P450 4A22 (CYPIVA22) (Fatty acid omega-hydroxylase) (Lauric acid omega-hydroxylase) (Long-chain fatty acid omega-monooxygenase) (EC 1.14.14.80)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular space [GO:0005615]; organelle membrane [GO:0031090]; 16-hydroxypalmitate dehydrogenase activity [GO:0103002]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; laurate hydroxylase activity [GO:0102116]; lipid hydroxylation [GO:0002933]

snps:
rs76011927 rs61507155 rs2758717 rs12564525 rs2056900 rs2056899 rs4926581 rs35202523 rs35156123 rs10789501 rs6661132 rs2405599 rs2758714 rs4926600 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TCH4-1; Sequence=Displayed; Name=2; IsoId=Q5TCH4-2; Sequence=VSP_034584; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: O75208
geneSymbol: COQ9
reactome: R-HSA-2142789;
pdb: 4RHP;
name: Ubiquinone biosynthesis protein COQ9, mitochondrial
length: 318
go: ENSG00000088682;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q8K1Z0}.
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; lipid binding [GO:0008289]; protein homodimerization activity [GO:0042803]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; ubiquinone biosynthetic process [GO:0006744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75208-1; Sequence=Displayed; Name=2; IsoId=O75208-2; Sequence=VSP_017683, VSP_017684; Note=No experimental confirmation available.; 


uniprotID: P61923
geneSymbol: COPZ1
reactome: R-HSA-6807878;R-HSA-6811434;
pdb: 2HF6;5MC7;
name: Coatomer subunit zeta-1 (Zeta-1-coat protein) (Zeta-1 COP)
length: 177
go: ENSG00000111481;
sequence:
MEALILEPSLYTVKAILILDNDGDRLFAKYYDDTYPSVKEQKAFEKNIFNKTHRTDSEIALLEGLTVVYKSSIDLYFYVIGSSYENELMLMAVLNCLFDSLSQMLRKNVEKRALLENMEGLFLAVDEIVDGGVILESDPQQVVHRVALRGEDVPLTEQTVSQVLQSAKEQIKWSLLR

opentargets:
COPI vesicle coat [GO:0030126]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; transport vesicle [GO:0030133]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]; intracellular protein transport [GO:0006886]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P61923-1; Sequence=Displayed; Name=2; IsoId=P61923-2; Sequence=VSP_053675, VSP_053676; Note=No experimental confirmation available.; Name=3; IsoId=P61923-3; Sequence=VSP_055050; Note=No experimental confirmation available.; Name=4; IsoId=P61923-4; Sequence=VSP_055049; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=5; IsoId=P61923-5; Sequence=VSP_055051; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. {ECO:0000250}.


uniprotID: Q5TAT6
geneSymbol: COL13A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-216083;R-HSA-8948216;
name: Collagen alpha-1(XIII) chain (COLXIIIA1)
length: 717
go: ENSG00000197467;
snps: rs1061954
sequence:

opentargets:
cell-cell junction [GO:0005911]; collagen type XIII trimer [GO:0005600]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; heparin binding [GO:0008201]; cell differentiation [GO:0030154]; cell-cell adhesion [GO:0098609]; cell-matrix adhesion [GO:0007160]; collagen catabolic process [GO:0030574]; endochondral ossification [GO:0001958]; extracellular matrix organization [GO:0030198]; morphogenesis of a branching structure [GO:0001763]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist. {ECO:0000305}; Name=1 {ECO:0000269|PubMed:11013208}; IsoId=Q5TAT6-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15164054}; IsoId=Q5TAT6-2; Sequence=VSP_052383; Note=Gene prediction based on EST data. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:15164054}; IsoId=Q5TAT6-3; Sequence=VSP_052383, VSP_052386; Note=Gene prediction based on EST data. {ECO:0000305}; Name=4 {ECO:0000269|PubMed:1698771}; IsoId=Q5TAT6-4; Sequence=VSP_052383, VSP_052384, VSP_052386; Name=5 {ECO:0000269|PubMed:3547403}; IsoId=Q5TAT6-5; Sequence=VSP_052384; Name=6 {ECO:0000269|PubMed:2459707}; IsoId=Q5TAT6-6; Sequence=VSP_052385; Name=7 {ECO:0000269|PubMed:2459707}; IsoId=Q5TAT6-7; Sequence=VSP_052385, VSP_052386; Name=8 {ECO:0000269|PubMed:1698771}; IsoId=Q5TAT6-8; Sequence=VSP_052382, VSP_052386; Name=9 {ECO:0000269|PubMed:1698771}; IsoId=Q5TAT6-9; Sequence=VSP_052383, VSP_052384, VSP_052386, VSP_052387; Name=10; IsoId=Q5TAT6-10; Sequence=VSP_043361, VSP_052382, VSP_052384; Note=No experimental confirmation available.; Name=11; IsoId=Q5TAT6-11; Sequence=VSP_047230, VSP_052383, VSP_052384, VSP_052386, VSP_047231; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11013208}; Single-pass type II membrane protein {ECO:0000269|PubMed:11013208}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000269|PubMed:26626625}.


uniprotID: Q9NZJ6
geneSymbol: COQ3
reactome: R-HSA-2142789;
length: 369
go: ENSG00000132423;
snps: rs11548336 rs6925344 rs4144164
name:
Ubiquinone biosynthesis O-methyltransferase, mitochondrial (3-demethylubiquinol 3-O-methyltransferase) (EC 2.1.1.64) (Polyprenyldihydroxybenzoate methyltransferase) (EC 2.1.1.114)

sequence:

opentargets:
extrinsic component of mitochondrial inner membrane [GO:0031314]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity [GO:0008425]; 3-demethylubiquinone-10 3-O-methyltransferase activity [GO:0044596]; 3-demethylubiquinone-9 3-O-methyltransferase activity [GO:0008689]; decaprenyldihydroxybenzoate methyltransferase activity [GO:0044595]; hexaprenyldihydroxybenzoate methyltransferase activity [GO:0004395]; O-methyltransferase activity [GO:0008171]; glycerol metabolic process [GO:0006071]; regulation of ubiquinone biosynthetic process [GO:0010795]; ubiquinone biosynthetic process [GO:0006744]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03190}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03190}; Matrix side {ECO:0000255|HAMAP-Rule:MF_03190}.


uniprotID: Q14061
geneSymbol: COX17
reactome: R-HSA-1268020;
pdb: 2L0Y;2LGQ;2RN9;2RNB;
name: Cytochrome c oxidase copper chaperone
sequence: MPGLVDSNPAPPESQEKKPLKPCCACPETKKARDACIIEKGEEHCGHLIEAHKECMRALGFKI
length: 63
go: ENSG00000138495;
opentargets:
cytoplasm [GO:0005737]; mitochondrial intermembrane space [GO:0005758]; copper chaperone activity [GO:0016531]; copper ion binding [GO:0005507]; cuprous ion binding [GO:1903136]; brain development [GO:0007420]; copper ion transport [GO:0006825]; generation of precursor metabolites and energy [GO:0006091]; heart development [GO:0007507]; mitochondrial respiratory chain complex IV assembly [GO:0033617]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytochrome-c oxidase activity [GO:1904960]

location:
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:19393246}. Cytoplasm {ECO:0000269|PubMed:19393246}.


uniprotID: Q86VX2
geneSymbol: COMMD7
reactome: R-HSA-8951664;
name: COMM domain-containing protein 7
length: 200
go: ENSG00000149600;
location: SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000269|PubMed:21778237}.
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; intracellular membrane-bounded organelle [GO:0043231]; NF-kappaB binding [GO:0051059]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of transcription, DNA-templated [GO:0045892]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86VX2-1; Sequence=Displayed; Name=2; IsoId=Q86VX2-2; Sequence=VSP_038372; 


uniprotID: Q8IZC6
geneSymbol: COL27A1
reactome: R-HSA-1650814;R-HSA-2022090;R-HSA-8874081;R-HSA-8948216;
name: Collagen alpha-1(XXVII) chain
length: 1860
go: ENSG00000196739;
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; fibrillar collagen trimer [GO:0005583]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; metal ion binding [GO:0046872]; extracellular matrix organization [GO:0030198]; growth plate cartilage chondrocyte development [GO:0003431]

snps:
rs2567707 rs2567706 rs34578955 rs34973417 rs2241671 rs2808770 rs2567705 rs140950220 rs35446342 rs7048607 rs1631319 rs10982134 rs3736252 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IZC6-1; Sequence=Displayed; Name=2; IsoId=Q8IZC6-2; Sequence=VSP_030347; Note=No experimental confirmation available.; Name=3; IsoId=Q8IZC6-3; Sequence=VSP_030348, VSP_030349; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Note=Found on some small banded collagen fibrils and meshworks. {ECO:0000250}.


uniprotID: Q96A23
geneSymbol: CPNE4
name: Copine-4 (Copine IV) (Copine-8)
length: 557
go: ENSG00000196353;
sequence:

opentargets:
extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; calcium-dependent phospholipid binding [GO:0005544]; cellular response to calcium ion [GO:0071277]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96A23-1; Sequence=Displayed; Name=2; IsoId=Q96A23-2; Sequence=VSP_001214; 


uniprotID: Q96MF6
geneSymbol: COQ10A
reactome: R-HSA-611105;
name: Coenzyme Q-binding protein COQ10 homolog A, mitochondrial
length: 247
go: ENSG00000135469;
snps: rs11543258 rs3184994
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; ubiquinone binding [GO:0048039]; cellular respiration [GO:0045333]; ubiquinone biosynthetic process [GO:0006744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96MF6-1; Sequence=Displayed; Name=2; IsoId=Q96MF6-2; Sequence=VSP_017685; Note=No experimental confirmation available.; Name=3; IsoId=Q96MF6-3; Sequence=VSP_046918; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Matrix side {ECO:0000250}.


uniprotID: Q8WVH0
geneSymbol: CPLX3
name: Complexin-3 (Complexin III) (CPX III)
length: 158
go: ENSG00000213578;
sequence:
MAFMVKTMVGGQLKNLTGSLGGGEDKGDGDKSAAEAQGMSREEYEEYQKQLVEEKMERDAQFTQRKAERATLRSHFRDKYRLPKNETDESQIQMAGGDVELPRELAKMIEEDTEEEEEKASVLGQLASLPGLNLGSLKDKAQATLGDLKQSAEKCHVM

opentargets:
anchored component of presynaptic active zone membrane [GO:0099029]; anchored component of synaptic vesicle membrane [GO:0098993]; cell junction [GO:0030054]; cytosol [GO:0005829]; photoreceptor ribbon synapse [GO:0098684]; SNARE complex [GO:0031201]; terminal bouton [GO:0043195]; neurotransmitter transporter activity [GO:0005326]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; insulin secretion [GO:0030073]; regulation of neurotransmitter secretion [GO:0046928]; regulation of synaptic vesicle fusion to presynaptic active zone membrane [GO:0031630]; synaptic vesicle exocytosis [GO:0016079]

location:
SUBCELLULAR LOCATION: Membrane; Lipid-anchor. Cell junction, synapse {ECO:0000250}. Note=Enriched at the synaptic terminal. {ECO:0000250}.


uniprotID: Q9BSU1
geneSymbol: C16orf70
name: UPF0183 protein C16orf70
length: 422
go: ENSG00000125149;
sequence:

opentargets:
dendrite [GO:0030425]; synaptic vesicle membrane [GO:0030672]; trans-Golgi network [GO:0005802]; Golgi to plasma membrane protein transport [GO:0043001]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BSU1-1; Sequence=Displayed; Name=2; IsoId=Q9BSU1-2; Sequence=VSP_026623, VSP_026624, VSP_026625; Note=No experimental confirmation available.; 


uniprotID: Q9Y6A2
geneSymbol: CYP46A1
reactome: R-HSA-193775;R-HSA-211976;
pdb: 2Q9F;2Q9G;3MDM;3MDR;3MDT;3MDV;4ENH;4FIA;4J14;
name: Cholesterol 24-hydroxylase (CH24H) (EC 1.14.14.25) (Cytochrome P450 46A1)
length: 500
go: ENSG00000036530;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; cholesterol 24-hydroxylase activity [GO:0033781]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; steroid hydroxylase activity [GO:0008395]; bile acid biosynthetic process [GO:0006699]; cholesterol catabolic process [GO:0006707]; nervous system development [GO:0007399]; sterol metabolic process [GO:0016125]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y6A2-1; Sequence=Displayed; Name=2; IsoId=Q9Y6A2-2; Sequence=VSP_053859; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y6A2-3; Sequence=VSP_053858, VSP_053860; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein.


uniprotID: H3BN30
geneSymbol: C16orf97
name: Uncharacterized protein C16orf97
length: 126
sequence:
MKKWKSRLFPRPPNWLSGKYLRLPSSAMFLIDFCLCVPWTTPFQCKILMVEFIVGFYDFCLALEVQYRTSKLFLCGQPSPRRSLGIQQQALKLACLSPTLLESSSCVDPPGNTAGSRMPSSSNCIK


uniprotID: Q8WTW3
geneSymbol: COG1
reactome: R-HSA-6807878;R-HSA-6811438;R-HSA-6811440;
length: 980
go: ENSG00000166685;
snps: rs4375725 rs1026128 rs7208207
name:
Conserved oligomeric Golgi complex subunit 1 (COG complex subunit 1) (Component of oligomeric Golgi complex 1)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi transport complex [GO:0017119]; trans-Golgi network membrane [GO:0032588]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; intra-Golgi vesicle-mediated transport [GO:0006891]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305|PubMed:11980916}; Peripheral membrane protein {ECO:0000305|PubMed:11980916}; Cytoplasmic side {ECO:0000305|PubMed:11980916}.


uniprotID: Q9P0S2
geneSymbol: COX16
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial (hCOX16)
length: 106
go: ENSG00000133983;
sequence:
MFAPAVMRAFRKNKTLGYGVPMLLLIVGGSFGLREFSQIRYDAVKSKMDPELEKKLKENKISLESEYEKIKDSKFDDWKNIRGPRPWEDPDLLQGRNPESLKTKTT

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; mitochondrial respiratory chain complex IV assembly [GO:0033617]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:29355485, ECO:0000269|PubMed:29381136}; Single-pass membrane protein {ECO:0000305|PubMed:29381136}.


uniprotID: Q96D53
geneSymbol: COQ8B
length: 544
go: ENSG00000123815;
name:
Atypical kinase COQ8B, mitochondrial (EC 2.7.-.-) (AarF domain-containing protein kinase 4) (Coenzyme Q protein 8B)

sequence:

opentargets:
cytosol [GO:0005829]; extrinsic component of mitochondrial inner membrane [GO:0031314]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; cerebellar Purkinje cell layer morphogenesis [GO:0021692]; protein phosphorylation [GO:0006468]; ubiquinone biosynthetic process [GO:0006744]

snps:
rs11538384 rs3865452 rs398122978 rs398122979 rs55899516 rs369573693 rs398122981 rs36012476 rs56083906 rs1057519347 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96D53-1; Sequence=Displayed; Name=2; IsoId=Q96D53-2; Sequence=VSP_022357; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:24270420}; Single-pass membrane protein {ECO:0000269|PubMed:24270420}. Cytoplasm, cytosol {ECO:0000269|PubMed:24270420}. Cell membrane {ECO:0000269|PubMed:24270420}.


uniprotID: Q8IYS4
geneSymbol: C16orf71
name: Uncharacterized protein C16orf71
length: 520
go: ENSG00000166246;
snps: rs17137215 rs17137230 rs35599524 rs35002791 rs7202010 rs2075469 rs737700 rs17853375
sequence:


uniprotID: Q99829
geneSymbol: CPNE1
reactome: R-HSA-1483206;R-HSA-6798695;
name: Copine-1 (Chromobindin 17) (Copine I)
length: 537
go: ENSG00000214078;
snps: rs6579255 rs12481228 rs11543239
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; endopeptidase activity [GO:0004175]; NF-kappaB binding [GO:0051059]; phosphatidylserine binding [GO:0001786]; protein homodimerization activity [GO:0042803]; transporter activity [GO:0005215]; cellular response to calcium ion [GO:0071277]; glycerophospholipid biosynthetic process [GO:0046474]; lipid metabolic process [GO:0006629]; negative regulation of DNA binding [GO:0043392]; negative regulation of gene expression [GO:0010629]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; neuron projection extension [GO:1990138]; neutrophil degranulation [GO:0043312]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of tumor necrosis factor-mediated signaling pathway [GO:1903265]; proteolysis [GO:0006508]; regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043122]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18212740, ECO:0000269|PubMed:21087455}. Cytoplasm {ECO:0000269|PubMed:12949241, ECO:0000269|PubMed:18212740, ECO:0000269|PubMed:21087455, ECO:0000269|PubMed:25450385}. Cell membrane {ECO:0000269|PubMed:21087455, ECO:0000269|PubMed:25450385}. Note=Translocates to the cell membrane in a calcium-dependent manner (PubMed:21087455, PubMed:25450385). {ECO:0000269|PubMed:21087455, ECO:0000269|PubMed:25450385}.


uniprotID: Q6UW02
geneSymbol: CYP20A1
name: Cytochrome P450 20A1 (EC 1.14.-.-)
length: 462
go: ENSG00000119004;
snps: rs2043449 rs1048013
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; 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 [GO:0016705]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UW02-1; Sequence=Displayed; Name=2; IsoId=Q6UW02-2; Sequence=VSP_055585; 


uniprotID: Q6NT55
geneSymbol: CYP4F22
reactome: R-HSA-211935;R-HSA-211958;R-HSA-211979;R-HSA-2142691;R-HSA-5579005;
name: Cytochrome P450 4F22 (EC 1.14.14.-)
length: 531
go: ENSG00000171954;
snps: rs118091316 rs16980531 rs118203937 rs201129618 rs118203935 rs118203936 rs7256787
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; organelle membrane [GO:0031090]; 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 [GO:0016705]; icosanoid metabolic process [GO:0006690]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q6UX73
geneSymbol: C16orf89
name: UPF0764 protein C16orf89
length: 402
go: ENSG00000153446;
snps: rs17853191 rs1127920 rs11642955
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:20578903}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; protein homodimerization activity [GO:0042803]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UX73-1; Sequence=Displayed; Name=2; IsoId=Q6UX73-2; Sequence=VSP_032600; Note=Major isoform, represents 80% of transcripts.; 


uniprotID: Q9P299
geneSymbol: COPZ2
reactome: R-HSA-6807878;R-HSA-6811434;
name: Coatomer subunit zeta-2 (Zeta-2-coat protein) (Zeta-2 COP)
length: 210
go: ENSG00000005243;
sequence:

opentargets:
cis-Golgi network [GO:0005801]; COPI vesicle coat [GO:0030126]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; Golgi membrane [GO:0000139]; transport vesicle [GO:0030133]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]; intracellular protein transport [GO:0006886]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. Shows a significant preference for ERGIC and cis-Golgi apparatus compared with trans-Golgi network. {ECO:0000250}.


uniprotID: Q9BR76
geneSymbol: CORO1B
name: Coronin-1B (Coronin-2)
length: 489
go: ENSG00000172725;
snps: rs756117196 rs2286624
sequence:

opentargets:
actin filament [GO:0005884]; cell leading edge [GO:0031252]; cell periphery [GO:0071944]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; stress fiber [GO:0001725]; actin filament binding [GO:0051015]; Arp2/3 complex binding [GO:0071933]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; actin cytoskeleton organization [GO:0030036]; actin filament branching [GO:0090135]; actin filament bundle assembly [GO:0051017]; cell migration [GO:0016477]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; endothelial cell chemotaxis [GO:0035767]; negative regulation of Arp2/3 complex-mediated actin nucleation [GO:0034316]; negative regulation of smooth muscle cell chemotaxis [GO:0071672]; positive regulation of lamellipodium morphogenesis [GO:2000394]; protein localization to cell leading edge [GO:1902463]; regulation of Arp2/3 complex-mediated actin nucleation [GO:0034315]; ruffle organization [GO:0031529]; wound healing [GO:0042060]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:16027158}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:16027158}. Note=Localized to the leading edge in fibroblasts, as well as weakly along actin stress fibers. {ECO:0000269|PubMed:16027158}.


uniprotID: Q6ZW13
geneSymbol: C16orf86
name: Uncharacterized protein C16orf86
length: 317
go: ENSG00000159761;
sequence:


uniprotID: P04798
geneSymbol: CYP1A1
reactome: R-HSA-1989781;R-HSA-211981;R-HSA-2142670;R-HSA-2142816;R-HSA-9018681;
pdb: 4I8V;
length: 512
go: ENSG00000140465;
name:
Cytochrome P450 1A1 (EC 1.14.14.1) (CYPIA1) (Cytochrome P450 form 6) (Cytochrome P450-C) (Cytochrome P450-P1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; organelle membrane [GO:0031090]; aromatase activity [GO:0070330]; demethylase activity [GO:0032451]; enzyme binding [GO:0019899]; estrogen 16-alpha-hydroxylase activity [GO:0101020]; flavonoid 3'-monooxygenase activity [GO:0016711]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on diphenols and related substances as donors [GO:0016679]; oxygen binding [GO:0019825]; vitamin D 24-hydroxylase activity [GO:0070576]; 9-cis-retinoic acid biosynthetic process [GO:0042904]; aging [GO:0007568]; amine metabolic process [GO:0009308]; camera-type eye development [GO:0043010]; cell proliferation [GO:0008283]; cellular response to copper ion [GO:0071280]; cellular response to organic cyclic compound [GO:0071407]; coumarin metabolic process [GO:0009804]; dibenzo-p-dioxin catabolic process [GO:0019341]; digestive tract development [GO:0048565]; drug metabolic process [GO:0017144]; epoxygenase P450 pathway [GO:0019373]; ethylene metabolic process [GO:0009692]; flavonoid metabolic process [GO:0009812]; hepatocyte differentiation [GO:0070365]; hydrogen peroxide biosynthetic process [GO:0050665]; insecticide metabolic process [GO:0017143]; lipid hydroxylation [GO:0002933]; long-chain fatty acid biosynthetic process [GO:0042759]; maternal process involved in parturition [GO:0060137]; omega-hydroxylase P450 pathway [GO:0097267]; oxidation-reduction process [GO:0055114]; porphyrin-containing compound metabolic process [GO:0006778]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; regulation of lipid metabolic process [GO:0019216]; response to antibiotic [GO:0046677]; response to arsenic-containing substance [GO:0046685]; response to drug [GO:0042493]; response to food [GO:0032094]; response to herbicide [GO:0009635]; response to hyperoxia [GO:0055093]; response to hypoxia [GO:0001666]; response to immobilization stress [GO:0035902]; response to iron(III) ion [GO:0010041]; response to lipopolysaccharide [GO:0032496]; response to nematode [GO:0009624]; response to virus [GO:0009615]; response to vitamin A [GO:0033189]; response to wounding [GO:0009611]; steroid metabolic process [GO:0008202]; vitamin D metabolic process [GO:0042359]

drug:
DB02342;DB00316;DB00518;DB01118;DB00381;DB00613;DB01169;DB00972;DB04957;DB04975;DB06770;DB01393;DB00201;DB01136;DB00608;DB00356;DB00169;DB00568;DB01407;DB01013;DB00636;DB00882;DB00575;DB00363;DB00851;DB06292;DB01254;DB00694;DB04840;DB01234;DB00633;DB00586;DB00804;DB00470;DB08846;DB00530;DB00783;DB00655;DB00898;DB04841;DB00693;DB00499;DB01095;DB00176;DB00317;DB00889;DB00502;DB01064;DB01167;DB01026;DB00448;DB04871;DB00643;DB01065;DB00170;DB00553;DB01388;DB00184;DB01115;DB00325;DB01059;DB00338;DB01092;DB00526;DB00738;DB03783;DB01174;DB00466;DB00457;DB01087;DB00396;DB00818;DB00571;DB00165;DB00908;DB00468;DB01129;DB02709;DB00740;DB08931;DB06176;DB00203;DB00428;DB00605;DB00675;DB04905;DB00624;DB01041;DB00277;DB00730;DB00208;DB00539;DB00755;DB00197;DB00162;DB00682;

snps:
rs4646422 rs35035798 rs17861094 rs2229150 rs28399427 rs34260157 rs4987133 rs56313657 rs72547509 rs1799814 rs1048943 rs41279188 rs41279188 rs36121583 rs56240201 rs28399429 rs28399430 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P04798-1; Sequence=Displayed; Name=2; IsoId=P04798-2; Sequence=VSP_053364, VSP_053365; Note=No experimental confirmation available.; Name=3; IsoId=P04798-3; Sequence=VSP_053363, VSP_053366; Note=No experimental confirmation available.; 


uniprotID: Q96SW2
geneSymbol: CRBN
pdb: 4M91;4TZ4;5FQD;5HXB;5V3O;6BN7;6BN8;6BN9;6BNB;6BOY;
name: Protein cereblon
length: 442
go: ENSG00000113851;
drug: DB00480;DB08910;DB01041;
snps: rs797045036
sequence:

opentargets:
Cul4A-RING E3 ubiquitin ligase complex [GO:0031464]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; negative regulation of ion transmembrane transport [GO:0034766]; negative regulation of protein homooligomerization [GO:0032463]; positive regulation of protein homodimerization activity [GO:0090073]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96SW2-1; Sequence=Displayed; Name=2; IsoId=Q96SW2-2; Sequence=VSP_015209; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20223979}. Nucleus {ECO:0000269|PubMed:20223979}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q92523
geneSymbol: CPT1B
reactome: R-HSA-200425;R-HSA-5362517;
length: 772
go: ENSG00000205560;
snps: rs3213445 rs2269383 rs8142477 rs470117 rs1804702
location: SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein.
name:
Carnitine O-palmitoyltransferase 1, muscle isoform (CPT1-M) (EC 2.3.1.21) (Carnitine O-palmitoyltransferase I, muscle isoform) (CPT I) (CPTI-M) (Carnitine palmitoyltransferase 1B) (Carnitine palmitoyltransferase I-like protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; carnitine O-palmitoyltransferase activity [GO:0004095]; carnitine metabolic process [GO:0009437]; carnitine shuttle [GO:0006853]; fatty acid beta-oxidation [GO:0006635]; long-chain fatty acid transport [GO:0015909]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q92523-1; Sequence=Displayed; Name=2; IsoId=Q92523-2; Sequence=VSP_034246, VSP_034247; Name=3; IsoId=Q92523-3; Sequence=VSP_043184; Note=No experimental confirmation available.; Name=4; IsoId=Q92523-4; Sequence=VSP_044451; Note=No experimental confirmation available.; 


uniprotID: P04118
geneSymbol: CLPS
reactome: R-HSA-192456;R-HSA-975634;
name: Colipase
length: 112
go: ENSG00000137392;
drug: DB04233;DB08222;
snps: rs2766597 rs41270082
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MEKILILLLVALSVAYAAPGPRGIIINLENGELCMNSAQCKSNCCQHSSALGLARCTSMASENSECSVKTLYGIYYKCPCERGLTCEGDKTIVGSITNTNFGICHDAGRSKQ

opentargets:
extracellular region [GO:0005576]; enzyme activator activity [GO:0008047]; digestion [GO:0007586]; lipid catabolic process [GO:0016042]; lipid metabolic process [GO:0006629]; response to bacterium [GO:0009617]; response to food [GO:0032094]


uniprotID: O15431
geneSymbol: SLC31A1
reactome: R-HSA-425410;
pdb: 2LS2;2LS3;2LS4;
length: 190
go: ENSG00000136868;
drug: DB00958;DB00515;DB00526;
snps: rs2233915
name:
High affinity copper uptake protein 1 (Copper transporter 1) (hCTR1) (Solute carrier family 31 member 1)

sequence:
MDHSHHMGMSYMDSNSTMQPSHHHPTTSASHSHGGGDSSMMMMPMTFYFGFKNVELLFSGLVINTAGEMAGAFVAVFLLAMFYEGLKIARESLLRKSQVSIRYNSMPVPGPNGTILMETHKTVGQQMLSFPHLLQTVLHIIQVVISYFLMLIFMTYNGYLCIAVAAGAGTGYFLFSWKKAVVVDITEHCH

opentargets:
integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; copper ion transmembrane transporter activity [GO:0005375]; identical protein binding [GO:0042802]; cellular copper ion homeostasis [GO:0006878]; cellular response to cisplatin [GO:0072719]; copper ion import across plasma membrane [GO:0098705]; copper ion transport [GO:0006825]; drug transmembrane transport [GO:0006855]

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Note=Localizes to the apical membrane in intestinal epithelial cells. {ECO:0000250}.


uniprotID: O75881
geneSymbol: CYP7B1
reactome: R-HSA-192105;R-HSA-193368;R-HSA-193807;R-HSA-211976;R-HSA-5579013;
length: 506
go: ENSG00000172817;
name:
25-hydroxycholesterol 7-alpha-hydroxylase (EC 1.14.14.29) (Cytochrome P450 7B1) (Oxysterol 7-alpha-hydroxylase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; organelle membrane [GO:0031090]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxysterol 7-alpha-hydroxylase activity [GO:0008396]; B cell chemotaxis [GO:0035754]; bile acid biosynthetic process [GO:0006699]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; negative regulation of intracellular estrogen receptor signaling pathway [GO:0033147]; positive regulation of epithelial cell proliferation [GO:0050679]; prostate gland epithelium morphogenesis [GO:0060740]; sterol metabolic process [GO:0016125]

snps:
rs72554624 rs121908614 rs587777221 rs754730601 rs121908612 rs750781606 rs587777222 rs59035258 rs121908610 rs367916692 rs121908611 rs267606758 rs116171274 


uniprotID: Q96BA8
geneSymbol: CREB3L1
reactome: R-HSA-8874211;
length: 519
go: ENSG00000157613;
snps: rs35652107
name:
Cyclic AMP-responsive element-binding protein 3-like protein 1 (cAMP-responsive element-binding protein 3-like protein 1) (Old astrocyte specifically-induced substance) (OASIS) [Cleaved into: Processed cyclic AMP-responsive element-binding protein 3-like protein 1]

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; cAMP response element binding [GO:0035497]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; SMAD binding [GO:0046332]; transcription regulatory region DNA binding [GO:0044212]; endoplasmic reticulum unfolded protein response [GO:0030968]; extracellular matrix constituent secretion [GO:0070278]; multicellular organism development [GO:0007275]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of fibroblast growth factor receptor signaling pathway [GO:0040037]; negative regulation of gene expression [GO:0010629]; negative regulation of sprouting angiogenesis [GO:1903671]; negative regulation of transcription, DNA-templated [GO:0045892]; osteoblast differentiation [GO:0001649]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990440]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96BA8-1; Sequence=Displayed; Name=2; Synonyms=OASISv1; IsoId=Q96BA8-2; Sequence=VSP_025632; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12054625, ECO:0000269|PubMed:16417584, ECO:0000269|PubMed:25310401}; Single-pass type II membrane protein. Note=ER membrane resident protein. Upon ER stress, translocated to the Golgi apparatus where it is cleaved. The cytosolic N-terminal fragment (processed cyclic AMP-responsive element-binding protein 3-like protein 1) is transported into the nucleus. {ECO:0000269|PubMed:12054625, ECO:0000269|PubMed:16417584, ECO:0000269|PubMed:21767813, ECO:0000269|PubMed:25310401}.; SUBCELLULAR LOCATION: Processed cyclic AMP-responsive element-binding protein 3-like protein 1: Nucleus {ECO:0000269|PubMed:24079343, ECO:0000269|PubMed:25310401}. Note=Upon ER stress, transported into the nucleus. {ECO:0000269|PubMed:12054625, ECO:0000269|PubMed:21767813, ECO:0000269|PubMed:24079343, ECO:0000269|PubMed:25310401}.


uniprotID: Q8IUH2
geneSymbol: CREG2
name: Protein CREG2
length: 290
go: ENSG00000175874;
snps: rs11554173
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12408961}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; cofactor binding [GO:0048037]


uniprotID: P22792
geneSymbol: CPN2
reactome: R-HSA-977606;
length: 545
go: ENSG00000178772;
snps: rs3732477 rs4974538 rs11711157
location: SUBCELLULAR LOCATION: Secreted.
name:
Carboxypeptidase N subunit 2 (Carboxypeptidase N 83 kDa chain) (Carboxypeptidase N large subunit) (Carboxypeptidase N polypeptide 2) (Carboxypeptidase N regulatory subunit)

sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; enzyme regulator activity [GO:0030234]; metallocarboxypeptidase activity [GO:0004181]; protein stabilization [GO:0050821]; regulation of complement activation [GO:0030449]


uniprotID: Q6ZP98
geneSymbol: C16orf47
name: Putative uncharacterized protein C16orf47
length: 133
sequence:
MVSSFAGIREIEKLRHKEVNKSQQGTGPGLEPRGSNSRTSATSSGTKRQLHRVLRGQWLSSSAPVSSAEPKASHLCIQGLSSSPIHHQGPVILPVDARLSLDVSVPEQRCSSYYLGRLWPQKYLVSSHSVKWN


uniprotID: Q6V0L0
geneSymbol: CYP26C1
reactome: R-HSA-211916;R-HSA-5365859;R-HSA-5579004;
name: Cytochrome P450 26C1 (EC 1.14.-.-)
length: 522
go: ENSG00000187553;
snps: rs11187265
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; retinoic acid 4-hydroxylase activity [GO:0008401]; retinoic acid binding [GO:0001972]; anterior/posterior pattern specification [GO:0009952]; central nervous system development [GO:0007417]; negative regulation of retinoic acid receptor signaling pathway [GO:0048387]; neural crest cell development [GO:0014032]; organelle fusion [GO:0048284]; oxidation-reduction process [GO:0055114]; retinoic acid catabolic process [GO:0034653]; sterol metabolic process [GO:0016125]; vitamin metabolic process [GO:0006766]


uniprotID: Q16678
geneSymbol: CYP1B1
reactome: R-HSA-211976;R-HSA-2142670;R-HSA-2142816;R-HSA-5579000;
pdb: 3PM0;
name: Cytochrome P450 1B1 (EC 1.14.14.1) (CYPIB1)
length: 543
go: ENSG00000138061;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; mitochondrion [GO:0005739]; 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]; oxygen binding [GO:0019825]; angiogenesis [GO:0001525]; arachidonic acid metabolic process [GO:0019369]; blood vessel morphogenesis [GO:0048514]; cell adhesion [GO:0007155]; cellular aromatic compound metabolic process [GO:0006725]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to organic cyclic compound [GO:0071407]; collagen fibril organization [GO:0030199]; endothelial cell migration [GO:0043542]; endothelial cell-cell adhesion [GO:0071603]; epoxygenase P450 pathway [GO:0019373]; estrogen metabolic process [GO:0008210]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; membrane lipid catabolic process [GO:0046466]; negative regulation of cell adhesion mediated by integrin [GO:0033629]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; nitric oxide biosynthetic process [GO:0006809]; omega-hydroxylase P450 pathway [GO:0097267]; oxidation-reduction process [GO:0055114]; positive regulation of angiogenesis [GO:0045766]; positive regulation of apoptotic process [GO:0043065]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of vascular endothelial growth factor production [GO:0010575]; regulation of reactive oxygen species metabolic process [GO:2000377]; retinal blood vessel morphogenesis [GO:0061304]; retinal metabolic process [GO:0042574]; retinol metabolic process [GO:0042572]; steroid metabolic process [GO:0008202]; sterol metabolic process [GO:0016125]; toxin metabolic process [GO:0009404]; trabecular meshwork development [GO:0002930]; visual perception [GO:0007601]; xenobiotic metabolic process [GO:0006805]

drug:
DB02342;DB00613;DB01169;DB00121;DB00201;DB00363;DB01254;DB00694;DB01234;DB01248;DB00997;DB00530;DB00783;DB00655;DB00499;DB01026;DB00448;DB01065;DB01204;DB00338;DB00526;DB01229;DB01174;DB01087;DB01168;DB00396;DB00818;DB02709;DB00675;DB00624;DB00277;

snps:
rs780002791 rs10012 rs201824781 rs72549387 rs28936700 rs9282670 rs9282671 rs764338357 rs1056827 rs753847648 rs1326854156 rs529769268 rs59472972 rs9341248 rs72549384 rs57865060 rs104893628 rs9341250 rs72549382 rs66583685 rs72549379 rs55771538 rs79204362 rs104893622 rs56305281 rs55989760 rs148542782 rs56010818 rs148542782 rs72549378 rs957253424 rs104893629 rs1056836 rs56175199 rs4986887 rs4986888 rs72549376 rs1056837 rs1800440 rs868208502 rs28936701 rs72549372 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Mitochondrion {ECO:0000250}.


uniprotID: P05181
geneSymbol: CYP2E1
reactome: R-HSA-211981;R-HSA-211999;R-HSA-9027307;
pdb: 3E4E;3E6I;3GPH;3KOH;3LC4;3T3Z;
length: 493
go: ENSG00000130649;
snps: rs72559710 rs6413419 rs41299426 rs41299434 rs55897648 rs28969387
name:
Cytochrome P450 2E1 (EC 1.14.13.-) (4-nitrophenol 2-hydroxylase) (EC 1.14.13.n7) (CYPIIE1) (Cytochrome P450-J)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; intrinsic component of endoplasmic reticulum membrane [GO:0031227]; mitochondrion [GO:0005739]; arachidonic acid epoxygenase activity [GO:0008392]; enzyme binding [GO:0019899]; 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, NAD(P)H as one donor, and incorporation of one atom of oxygen [GO:0016709]; 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 hydroxylase activity [GO:0008395]; benzene metabolic process [GO:0018910]; carbon tetrachloride metabolic process [GO:0018885]; drug metabolic process [GO:0017144]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; halogenated hydrocarbon metabolic process [GO:0042197]; heterocycle metabolic process [GO:0046483]; long-chain fatty acid biosynthetic process [GO:0042759]; monoterpenoid metabolic process [GO:0016098]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; response to bacterium [GO:0009617]; response to ethanol [GO:0045471]; response to organonitrogen compound [GO:0010243]; response to ozone [GO:0010193]; steroid metabolic process [GO:0008202]; triglyceride metabolic process [GO:0006641]; xenobiotic metabolic process [GO:0006805]

drug:
DB00316;DB00041;DB00918;DB00969;DB01223;DB00321;DB06728;DB01435;DB00972;DB06770;DB04794;DB01558;DB00835;DB01156;DB00201;DB06774;DB00748;DB01136;DB00477;DB00356;DB00501;DB00215;DB04920;DB00636;DB00882;DB01068;DB00257;DB00363;DB01394;DB00851;DB06637;DB00250;DB01151;DB01234;DB01191;DB00633;DB00514;DB00829;DB00586;DB00255;DB00822;DB01127;DB08846;DB00228;DB00109;DB00655;DB00898;DB06689;DB00593;DB00773;DB01628;DB00949;DB08868;DB01544;DB00623;DB00690;DB00176;DB00158;DB01213;DB01296;DB04077;DB05708;DB01159;DB01355;DB04946;DB00458;DB00753;DB00951;DB00883;DB01167;DB00170;DB00371;DB00703;DB00763;DB01403;DB01028;DB01011;DB00379;DB01110;DB00683;DB01204;DB00622;DB02701;DB00184;DB01115;DB06712;DB01595;DB00540;DB00904;DB01173;DB00526;DB00617;DB03783;DB00780;DB01174;DB01085;DB01100;DB04977;DB01131;DB00818;DB00908;DB00468;DB01045;DB00503;DB06201;DB00118;DB01037;DB01236;DB00203;DB00428;DB00359;DB00259;DB00675;DB01079;DB01041;DB01412;DB00277;DB00599;DB00679;DB00208;DB01007;DB04858;DB05109;DB00752;DB00347;DB01586;DB00549;DB01198;


uniprotID: A0A1B0GUU1
geneSymbol: C17orf113
name: Transmembrane protein C17orf113
length: 675
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:


uniprotID: P04632
geneSymbol: CAPNS1
reactome: R-HSA-1474228;R-HSA-6809371;R-HSA-8862803;
pdb: 1KFU;1KFX;4PHJ;4PHK;4PHM;4WQ2;4WQ3;5D69;
length: 268
go: ENSG00000126247;
drug: DB02570;
snps: rs17878750
name:
Calpain small subunit 1 (CSS1) (Calcium-activated neutral proteinase small subunit) (CANP small subunit) (Calcium-dependent protease small subunit) (CDPS) (Calcium-dependent protease small subunit 1) (Calpain regulatory subunit)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; endopeptidase activity [GO:0004175]; cornification [GO:0070268]; positive regulation of cell proliferation [GO:0008284]; regulation of macroautophagy [GO:0016241]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Translocates to the plasma membrane upon calcium binding. {ECO:0000250}.


uniprotID: Q14993
geneSymbol: COL19A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-8948216;
name: Collagen alpha-1(XIX) chain (Collagen alpha-1(Y) chain)
length: 1142
go: ENSG00000082293;
snps: rs2273426 rs13204209 rs13204209 rs771562232
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
collagen trimer [GO:0005581]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; protein binding, bridging [GO:0030674]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; cell-cell adhesion [GO:0098609]; collagen catabolic process [GO:0030574]; extracellular matrix organization [GO:0030198]; skeletal muscle tissue development [GO:0007519]; skeletal system development [GO:0001501]


uniprotID: P23528
geneSymbol: CFL1
reactome: R-HSA-114608;R-HSA-2029482;R-HSA-3928662;R-HSA-399954;R-HSA-5627117;R-HSA-8950505;
pdb: 1Q8G;1Q8X;3J0S;4BEX;5HVK;5L6W;
name: Cofilin-1 (18 kDa phosphoprotein) (p18) (Cofilin, non-muscle isoform)
length: 166
go: ENSG00000172757;
drug: DB04147;
sequence:
MASGVAVSDGVIKVFNDMKVRKSSTPEEVKKRKKAVLFCLSEDKKNIILEEGKEILVGDVGQTVDDPYATFVKMLPDKDCRYALYDATYETKESKKEDLVFIFWAPESAPLKSKMIYASSKDAIKKKLTGIKHELQANCYEEVKDRCTLAEKLGGSAVISLEGKPL

opentargets:
cell-cell junction [GO:0005911]; cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; lamellipodium membrane [GO:0031258]; membrane [GO:0016020]; nuclear matrix [GO:0016363]; nucleus [GO:0005634]; ruffle membrane [GO:0032587]; vesicle [GO:0031982]; actin filament binding [GO:0051015]; signaling receptor binding [GO:0005102]; actin cytoskeleton organization [GO:0030036]; actin filament depolymerization [GO:0030042]; actin filament fragmentation [GO:0030043]; cytoskeleton organization [GO:0007010]; establishment of cell polarity [GO:0030010]; interleukin-12-mediated signaling pathway [GO:0035722]; mitotic cytokinesis [GO:0000281]; negative regulation of apoptotic process [GO:0043066]; neural crest cell migration [GO:0001755]; neural fold formation [GO:0001842]; positive regulation by host of viral process [GO:0044794]; positive regulation of actin filament depolymerization [GO:0030836]; protein phosphorylation [GO:0006468]; regulation of cell morphogenesis [GO:0022604]; regulation of dendritic spine morphogenesis [GO:0061001]; response to amino acid [GO:0043200]; response to virus [GO:0009615]; Rho protein signal transduction [GO:0007266]

location:
SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000269|PubMed:15580268}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15580268}. Cell projection, ruffle membrane {ECO:0000269|PubMed:15580268}; Peripheral membrane protein {ECO:0000269|PubMed:15580268}; Cytoplasmic side {ECO:0000269|PubMed:15580268}. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:15580268}; Peripheral membrane protein {ECO:0000269|PubMed:15580268}; Cytoplasmic side {ECO:0000269|PubMed:15580268}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:P18760}. Note=Colocalizes with the actin cytoskeleton in membrane ruffles and lamellipodia. Detected at the cleavage furrow and contractile ring during cytokinesis. Almost completely in nucleus in cells exposed to heat shock or 10% dimethyl sulfoxide.


uniprotID: P48444
geneSymbol: ARCN1
reactome: R-HSA-6807878;R-HSA-6811434;
name: Coatomer subunit delta (Archain) (Delta-coat protein) (Delta-COP)
length: 511
go: ENSG00000095139;
snps: rs682327 rs1063124
sequence:

opentargets:
COPI vesicle coat [GO:0030126]; COPI-coated vesicle [GO:0030137]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; transport vesicle [GO:0030133]; RNA binding [GO:0003723]; adult locomotory behavior [GO:0008344]; cerebellar Purkinje cell layer maturation [GO:0021691]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi localization [GO:0051645]; intracellular protein transport [GO:0006886]; pigmentation [GO:0043473]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48444-1; Sequence=Displayed; Name=2; IsoId=P48444-2; Sequence=VSP_045636; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. {ECO:0000250}.


uniprotID: Q92828
geneSymbol: CORO2A
name: Coronin-2A (IR10) (WD repeat-containing protein 2)
length: 525
go: ENSG00000106789;
snps: rs2231666 rs35787916
sequence:

opentargets:
intracellular [GO:0005622]; transcriptional repressor complex [GO:0017053]; actin filament binding [GO:0051015]; intracellular signal transduction [GO:0035556]


uniprotID: Q02318
geneSymbol: CYP27A1
reactome: R-HSA-193368;R-HSA-193775;R-HSA-193807;R-HSA-211976;R-HSA-5578996;
pdb: 1MFX;
length: 531
go: ENSG00000135929;
drug: DB06777;DB00169;DB06410;DB00153;DB00082;
location: SUBCELLULAR LOCATION: Mitochondrion membrane.
name:
Sterol 26-hydroxylase, mitochondrial (EC 1.14.15.15) (5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase) (Cytochrome P-450C27/25) (Cytochrome P450 27) (Sterol 27-hydroxylase) (Vitamin D(3) 25-hydroxylase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [GO:0016705]; steroid hydroxylase activity [GO:0008395]; bile acid biosynthetic process [GO:0006699]; sterol metabolic process [GO:0016125]

snps:
rs72551313 rs59443548 rs2229381 rs121908096 rs121908096 rs121908099 rs121908097 rs121908098 rs72551322 


uniprotID: Q8IYJ1
geneSymbol: CPNE9
name: Copine-9 (Copine IX)
length: 553
go: ENSG00000144550;
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; calcium-dependent phospholipid binding [GO:0005544]; cellular response to calcium ion [GO:0071277]; positive regulation of dendrite extension [GO:1903861]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYJ1-1; Sequence=Displayed; Name=2; IsoId=Q8IYJ1-2; Sequence=VSP_039523; 


uniprotID: Q68DQ2
geneSymbol: CRYBG3
name: Very large A-kinase anchor protein (vlAKAP) (Beta/gamma crystallin domain-containing protein 3)
length: 2970
go: ENSG00000080200;
snps: rs11918990 rs17302349 rs4857302
sequence:

opentargets:
protein-containing complex [GO:0032991]; carbohydrate binding [GO:0030246]; protein kinase A binding [GO:0051018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=vlAKAP; IsoId=Q68DQ2-3; Sequence=Displayed; Name=1; IsoId=Q68DQ2-1; Sequence=VSP_057114; Note=No experimental confirmation available.; Name=2; IsoId=Q68DQ2-2; Sequence=VSP_057115, VSP_057116; Note=No experimental confirmation available.; 


uniprotID: O00230
geneSymbol: CORT
reactome: R-HSA-375276;R-HSA-418594;
name: Cortistatin [Cleaved into: Cortistatin-29; Cortistatin-17]
length: 105
go: ENSG00000241563;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MPLSPGLLLLLLSGATATAALPLEGGPTGRDSEHMQEAAGIRKSSLLTFLAWWFEWTSQASAGPLIGEEAREVARRQEGAPPQQSARRDRMPCRNFFWKTFSSCK

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; G protein-coupled receptor binding [GO:0001664]; neuropeptide hormone activity [GO:0005184]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q6QEF8
geneSymbol: CORO6
name: Coronin-6 (Coronin-like protein E) (Clipin-E)
length: 472
go: ENSG00000167549;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6QEF8-1; Sequence=Displayed; Name=2; IsoId=Q6QEF8-2; Sequence=VSP_021484; Name=3; IsoId=Q6QEF8-3; Sequence=VSP_021484, VSP_021486; Name=4; IsoId=Q6QEF8-4; Sequence=VSP_021485, VSP_021486; Name=5; IsoId=Q6QEF8-5; Sequence=VSP_039874; 


uniprotID: Q8NFW1
geneSymbol: COL22A1
reactome: R-HSA-1650814;R-HSA-8948216;
name: Collagen alpha-1(XXII) chain
length: 1626
go: ENSG00000169436;
snps: rs2292927 rs10111520 rs4909444
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Cytoplasm {ECO:0000250}.
sequence:

opentargets:
collagen trimer [GO:0005581]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix organization [GO:0030198]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NFW1-1; Sequence=Displayed; Name=2; IsoId=Q8NFW1-2; Sequence=VSP_031087; Note=No experimental confirmation available.; Name=3; IsoId=Q8NFW1-3; Sequence=VSP_038200, VSP_031087; Note=No experimental confirmation available.; 


uniprotID: P05108
geneSymbol: CYP11A1
reactome: R-HSA-196108;R-HSA-211976;R-HSA-5579026;
pdb: 3N9Y;3N9Z;3NA0;3NA1;
length: 521
go: ENSG00000140459;
snps: rs121912813 rs121912811 rs387906601 rs6161 rs72547508 rs121912812 rs121912814
name:
Cholesterol side-chain cleavage enzyme, mitochondrial (EC 1.14.15.6) (CYPXIA1) (Cholesterol desmolase) (Cytochrome P450 11A1) (Cytochrome P450(scc))

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; cholesterol monooxygenase (side-chain-cleaving) activity [GO:0008386]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; C21-steroid hormone biosynthetic process [GO:0006700]; cellular response to peptide hormone stimulus [GO:0071375]; cholesterol metabolic process [GO:0008203]; glucocorticoid biosynthetic process [GO:0006704]; sterol metabolic process [GO:0016125]; vitamin D metabolic process [GO:0042359]

drug:
DB00357;DB00169;DB00882;DB00257;DB01234;DB01396;DB00390;DB02901;DB00917;DB01437;DB01026;DB00338;DB01232;DB00857;DB00624;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P05108-1; Sequence=Displayed; Name=2; IsoId=P05108-2; Sequence=VSP_045695; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P14137}; Peripheral membrane protein {ECO:0000305}. Note=Localizes to the matrix side of the mitochondrion inner membrane. {ECO:0000250|UniProtKB:P14137}.


uniprotID: A0A087X1C5
geneSymbol: CYP2D7
name: Putative cytochrome P450 2D7 (EC 1.14.14.1)
length: 515
go: ENSG00000205702;
snps: rs11090077 rs1800754 rs56127449 rs2070907
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; 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]; steroid hydroxylase activity [GO:0008395]; arachidonic acid metabolic process [GO:0019369]; 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: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000305|PubMed:15051713}. Mitochondrion {ECO:0000269|PubMed:18838503}.


uniprotID: Q9HCH3
geneSymbol: CPNE5
name: Copine-5 (Copine V)
length: 593
go: ENSG00000124772;
snps: rs3734334 rs3830138
sequence:

opentargets:
extracellular exosome [GO:0070062]; neuron projection [GO:0043005]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; calcium-dependent phospholipid binding [GO:0005544]; cellular response to calcium ion [GO:0071277]; positive regulation of dendrite extension [GO:1903861]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCH3-1; Sequence=Displayed; Name=2; IsoId=Q9HCH3-2; Sequence=VSP_056535; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Perikaryon {ECO:0000250|UniProtKB:Q8JZW4}. Cell projection {ECO:0000250|UniProtKB:Q8JZW4}.


uniprotID: O43303
geneSymbol: CCP110
name: Centriolar coiled-coil protein of 110 kDa (Centrosomal protein of 110 kDa) (CP110) (Cep110)
length: 1012
go: ENSG00000103540;
snps: rs16972129 rs3751821 rs226891 rs11645625 rs7190666
reactome:
R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5689880;R-HSA-8854518;

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cilium [GO:0005929]; cytosol [GO:0005829]; protein-containing complex [GO:0032991]; centriole replication [GO:0007099]; centrosome duplication [GO:0051298]; ciliary basal body organization [GO:0032053]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; negative regulation of cilium assembly [GO:1902018]; positive regulation of cilium assembly [GO:0045724]; protein deubiquitination [GO:0016579]; regulation of cytokinesis [GO:0032465]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43303-1; Sequence=Displayed; Name=2; IsoId=O43303-2; Sequence=VSP_011897; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:12361598, ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:16760425, ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:17719545, ECO:0000269|PubMed:20596027, ECO:0000269|PubMed:21620453}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q7TSH4}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q7TSH4}. Note=Recruited early and then associates with the growing distal tips. Recruited to the mother centriole by KIF24. Removed from centrioles by TTBK2, leading to initiation of ciliogenesis and localizes only to the daughter centriole in ciliated cells. In cytotoxic T lymphocytes remains associated with the mother centriole during docking of the centrosome at the immunological synapse upon target contact. {ECO:0000250|UniProtKB:Q7TSH4, ECO:0000269|PubMed:21620453}.


uniprotID: Q9UKF6
geneSymbol: CPSF3
reactome: R-HSA-109688;R-HSA-159231;R-HSA-72163;R-HSA-72187;R-HSA-77595;
pdb: 2I7T;2I7V;
length: 684
go: ENSG00000119203;
snps: rs17850770
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15037765}.
name:
Cleavage and polyadenylation specificity factor subunit 3 (EC 3.1.27.-) (Cleavage and polyadenylation specificity factor 73 kDa subunit) (CPSF 73 kDa subunit) (mRNA 3'-end-processing endonuclease CPSF-73)

sequence:

opentargets:
mRNA cleavage and polyadenylation specificity factor complex [GO:0005847]; nucleoplasm [GO:0005654]; 5'-3' exonuclease activity [GO:0008409]; endoribonuclease activity [GO:0004521]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA 3'-end processing by stem-loop binding and cleavage [GO:0006398]; mRNA cleavage [GO:0006379]; mRNA export from nucleus [GO:0006406]; mRNA polyadenylation [GO:0006378]; mRNA splicing, via spliceosome [GO:0000398]; pre-mRNA cleavage required for polyadenylation [GO:0098789]; snoRNA 3'-end processing [GO:0031126]; snoRNA splicing [GO:0034247]; termination of RNA polymerase II transcription [GO:0006369]


uniprotID: P26998
geneSymbol: CRYBB3
pdb: 3QK3;
name: Beta-crystallin B3 (Beta-B3 crystallin) [Cleaved into: Beta-crystallin B3, N-terminally processed]
length: 211
go: ENSG00000100053;
opentargets: structural constituent of eye lens [GO:0005212]; visual perception [GO:0007601]
snps: rs17670506 rs9608378 rs4455261 rs74315490 rs587777601
sequence:


uniprotID: Q9H4W6
geneSymbol: EBF3
pdb: 3MUJ;3N50;
name: Transcription factor COE3 (Early B-cell factor 3) (EBF-3) (Olf-1/EBF-like 2) (O/E-2) (OE-2)
length: 596
go: ENSG00000108001;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28017373}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]

snps:
rs1057519518 rs1057519519 rs1057519389 rs1057519389 rs1057519389 rs1057519437 rs869312668 rs1057519520 rs779003155 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q9H4W6-1; Sequence=Displayed; Name=Short; IsoId=Q9H4W6-2; Sequence=VSP_001113, VSP_001114; 


uniprotID: Q8NI60
geneSymbol: COQ8A
pdb: 4PED;5I35;
length: 647
go: ENSG00000163050;
name:
Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) (Chaperone activity of bc1 complex-like) (Chaperone-ABC1-like) (Coenzyme Q protein 8A) (aarF domain-containing protein kinase 3)

sequence:

opentargets:
extrinsic component of mitochondrial inner membrane [GO:0031314]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; phosphorylation [GO:0016310]; protein phosphorylation [GO:0006468]; ubiquinone biosynthetic process [GO:0006744]

snps:
rs2297411 rs119468005 rs145034527 rs119468006 rs119468006 rs201908721 rs778798354 rs748118737 rs55798516 rs144147839 rs119468008 rs119468009 rs119468004 rs61995958 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NI60-1; Sequence=Displayed; Name=2; IsoId=Q8NI60-2; Sequence=VSP_022351; Note=No experimental confirmation available.; Name=3; IsoId=Q8NI60-3; Sequence=VSP_022353; Note=No experimental confirmation available.; Name=4; IsoId=Q8NI60-4; Sequence=VSP_022352; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11888884, ECO:0000269|PubMed:25498144}. Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255, ECO:0000305|PubMed:25216398}.


uniprotID: Q5KU26
geneSymbol: COLEC12
reactome: R-HSA-198933;R-HSA-3000480;
pdb: 2OX8;
length: 742
go: ENSG00000158270;
snps: rs17855029 rs8098850 rs2305025 rs2305027
name:
Collectin-12 (Collectin placenta protein 1) (CL-P1) (hCL-P1) (Nurse cell scavenger receptor 2) (Scavenger receptor class A member 4) (Scavenger receptor with C-type lectin)

sequence:

opentargets:
collagen trimer [GO:0005581]; endocytic vesicle membrane [GO:0030666]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; galactose binding [GO:0005534]; low-density lipoprotein particle binding [GO:0030169]; metal ion binding [GO:0046872]; scavenger receptor activity [GO:0005044]; signaling pattern recognition receptor activity [GO:0008329]; carbohydrate mediated signaling [GO:0009756]; cellular response to exogenous dsRNA [GO:0071360]; defense response [GO:0006952]; innate immune response [GO:0045087]; phagocytosis, recognition [GO:0006910]; positive regulation of cell adhesion molecule production [GO:0060355]; protein homooligomerization [GO:0051260]; receptor-mediated endocytosis [GO:0006898]; regulation of immune response [GO:0050776]; toll-like receptor 3 signaling pathway [GO:0034138]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:11162630}; Single-pass type II membrane protein {ECO:0000269|PubMed:11162630}. Note=Forms clusters on the cell surface.


uniprotID: Q9P000
geneSymbol: COMMD9
reactome: R-HSA-6798695;R-HSA-8951664;
pdb: 4NKN;4OE9;6BP6;
name: COMM domain-containing protein 9
length: 198
go: ENSG00000110442;
sequence:
MAALTAEHFAALQSLLKASSKDVVRQLCQESFSSSALGLKKLLDVTCSSLSVTQEEAEELLQALHRLTRLVAFRDLSSAEAILALFPENFHQNLKNLLTKIILEHVSTWRTEAQANQISLPRLVDLDWRVDIKTSSDSISRMAVPTCLLQMKIQEDPSLCGDKPSISAVTVELSKETLDTMLDGLGRIRDQLSAVASK

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; Golgi apparatus [GO:0005794]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; cholesterol homeostasis [GO:0042632]; neutrophil degranulation [GO:0043312]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P000-1; Sequence=Displayed; Name=2; IsoId=Q9P000-2; Sequence=VSP_041499; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21778237}. Cytoplasmic vesicle {ECO:0000269|PubMed:21778237}.


uniprotID: P33261
geneSymbol: CYP2C19
reactome: R-HSA-211981;R-HSA-211999;R-HSA-2142670;R-HSA-2142816;
pdb: 4GQS;
length: 490
name:
Cytochrome P450 2C19 (EC 1.14.13.-) ((R)-limonene 6-monooxygenase) (EC 1.14.14.53) ((S)-limonene 6-monooxygenase) (EC 1.14.14.51) ((S)-limonene 7-monooxygenase) (EC 1.14.14.52) (CYPIIC17) (CYPIIC19) (Cytochrome P450-11A) (Cytochrome P450-254C) (Mephenytoin 4-hydroxylase)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; arachidonic acid epoxygenase activity [GO:0008392]; enzyme binding [GO:0019899]; 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 hydroxylase activity [GO:0008395]; drug metabolic process [GO:0017144]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; heterocycle metabolic process [GO:0046483]; monoterpenoid metabolic process [GO:0016098]; omega-hydroxylase P450 pathway [GO:0097267]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; steroid metabolic process [GO:0008202]; xenobiotic metabolic process [GO:0006805]

drug:
DB05812;DB01418;DB00945;DB00546;DB00918;DB06403;DB00357;DB01424;DB01118;DB00321;DB01060;DB00701;DB01435;DB06605;DB00673;DB01274;DB06413;DB06697;DB00289;DB01076;DB06626;DB00972;DB00245;DB01128;DB04794;DB00188;DB01558;DB00835;DB00297;DB00921;DB00564;DB00748;DB00395;DB00439;DB00446;DB00672;DB00169;DB01166;DB00501;DB00604;DB00215;DB01211;DB04920;DB00349;DB01242;DB00758;DB01559;DB00257;DB00363;DB00531;DB00091;DB00250;DB00705;DB01151;DB00967;DB01234;DB01191;DB00514;DB00829;DB00586;DB00343;DB01093;DB01075;DB00988;DB00590;DB01142;DB00470;DB00625;DB00216;DB00109;DB08899;DB01175;DB09119;DB00736;DB00783;DB00898;DB00754;DB01628;DB06414;DB00927;DB00949;DB00196;DB01544;DB00472;DB00499;DB01095;DB00176;DB00983;DB01320;DB00317;DB01241;DB01120;DB01296;DB01016;DB01018;DB00502;DB01355;DB06789;DB01050;DB09054;DB01181;DB00619;DB00458;DB00224;DB00328;DB00951;DB09570;DB06738;DB01026;DB00448;DB01259;DB08918;DB01601;DB00455;DB04871;DB00678;DB00227;DB08933;DB09280;DB01283;DB08932;DB01065;DB01043;DB00532;DB00371;DB00333;DB00703;DB00763;DB05246;DB00849;DB00264;DB01110;DB01171;DB00745;DB09049;DB00220;DB00622;DB00184;DB00665;DB06712;DB00717;DB00540;DB00334;DB00338;DB04938;DB00776;DB00239;DB06412;DB00213;DB00082;DB00738;DB00312;DB00850;DB00454;DB03783;DB00780;DB01174;DB00832;DB00252;DB01100;DB01132;DB01621;DB01179;DB06209;DB01058;DB00635;DB00794;DB01032;DB00396;DB01131;DB00420;DB00818;DB00571;DB01589;DB01224;DB00468;DB01129;DB00980;DB00863;DB08896;DB01045;DB08864;DB00503;DB06176;DB00412;DB01098;DB01232;DB01037;DB01104;DB00203;DB00641;DB06268;DB00398;DB09118;DB00259;DB00675;DB06204;DB00966;DB00231;DB00444;DB00857;DB00624;DB01041;DB00679;DB00208;DB00373;DB01007;DB00932;DB08895;DB01124;DB01036;DB00273;DB00214;DB05109;DB00752;DB00347;DB00726;DB00197;DB01361;DB00580;DB00313;DB00285;DB00661;DB08828;DB00582;DB09068;DB00682;DB00549;DB00495;DB00425;DB00909;

snps:
rs55752064 rs17882687 rs28399505 rs17878459 rs41291556 rs17885179 rs17884712 rs58973490 rs181297724 rs28399510 rs6413438 rs3758581 rs17879685 rs56337013 rs192154563 


uniprotID: Q9HBI6
geneSymbol: CYP4F11
reactome: R-HSA-211935;R-HSA-211958;R-HSA-211979;R-HSA-2142691;
length: 524
go: ENSG00000171903;
snps: rs57519667 rs8104361 rs1060463
name:
Phylloquinone omega-hydroxylase CYP4F11 (EC 1.14.14.78) (3-hydroxy fatty acids omega-hydroxylase CYP4F11) (EC 1.14.14.-) (Cytochrome P450 4F11) (CYPIVF11)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; fatty acid binding [GO:0005504]; 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, NAD(P)H as one donor, and incorporation of one atom of oxygen [GO:0016709]; blood coagulation [GO:0007596]; fatty acid metabolic process [GO:0006631]; inflammatory response [GO:0006954]; menaquinone catabolic process [GO:0042361]; oxidation-reduction process [GO:0055114]; phylloquinone catabolic process [GO:0042376]; vitamin K catabolic process [GO:0042377]

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000269|PubMed:18065749}; Single-pass membrane protein {ECO:0000305}.


uniprotID: A6NNT2
geneSymbol: C16orf96
name: Uncharacterized protein C16orf96
length: 1141
go: ENSG00000205832;
sequence:


uniprotID: P24903
geneSymbol: CYP2F1
reactome: R-HSA-211935;R-HSA-211981;R-HSA-211999;
name: Cytochrome P450 2F1 (EC 1.14.14.1) (CYPIIF1)
length: 491
go: ENSG00000197446;
snps: rs58285195 rs57670668 rs305974 rs75405062 rs144315434 rs7246981
sequence:

opentargets:
cytoplasm [GO:0005737]; 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]; 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]; oxygen binding [GO:0019825]; steroid hydroxylase activity [GO:0008395]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; naphthalene metabolic process [GO:0018931]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; response to toxic substance [GO:0009636]; trichloroethylene metabolic process [GO:0018979]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P24903-1; Sequence=Displayed; Name=2; IsoId=P24903-2; Sequence=VSP_055575, VSP_055576; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:10383923}; Peripheral membrane protein {ECO:0000305|PubMed:10383923}. Microsome membrane {ECO:0000269|PubMed:10383923}; Peripheral membrane protein {ECO:0000269|PubMed:10383923}.


uniprotID: P0DOX4
name: Immunoglobulin epsilon heavy chain (Immunoglobulin epsilon heavy chain ND)
length: 547
sequence:

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


uniprotID: Q9P2H3
geneSymbol: IFT80
reactome: R-HSA-5620924;
name: Intraflagellar transport protein 80 homolog (WD repeat-containing protein 56)
length: 777
go: ENSG00000068885;
snps: rs137853115 rs6778728 rs137853116
sequence:

opentargets:
centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasm [GO:0005737]; intraciliary transport particle B [GO:0030992]; bone morphogenesis [GO:0060349]; chondrocyte differentiation [GO:0002062]; intraciliary transport involved in cilium assembly [GO:0035735]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of non-canonical Wnt signaling pathway [GO:2000051]; non-motile cilium assembly [GO:1905515]; osteoblast differentiation [GO:0001649]; positive regulation of smoothened signaling pathway [GO:0045880]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P2H3-1; Sequence=Displayed; Name=2; IsoId=Q9P2H3-2; Sequence=VSP_045456; Note=No experimental confirmation available.; Name=IFT80-L; IsoId=Q9P2H3-3; Sequence=VSP_057524; Note=Based on a naturally occurring readthrough transcript which produces a TRIM59-IFT80 fusion protein.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}. Note=Basal body and ciliary axoneme. {ECO:0000250}.


uniprotID: Q8WYA0
geneSymbol: IFT81
reactome: R-HSA-5620924;
length: 676
go: ENSG00000122970;
snps: rs751222088
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000305|PubMed:23990561}.
name:
Intraflagellar transport protein 81 homolog (Carnitine deficiency-associated protein expressed in ventricle 1) (CDV-1)

sequence:

opentargets:
centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary tip [GO:0097542]; cilium [GO:0005929]; intraciliary transport particle B [GO:0030992]; motile cilium [GO:0031514]; sperm midpiece [GO:0097225]; sperm principal piece [GO:0097228]; tubulin binding [GO:0015631]; cilium assembly [GO:0060271]; intraciliary transport [GO:0042073]; intraciliary transport involved in cilium assembly [GO:0035735]; regulation of smoothened signaling pathway [GO:0008589]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=CDV-1R {ECO:0000269|PubMed:11130971, ECO:0000269|PubMed:12549821}; IsoId=Q8WYA0-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q8WYA0-3; Sequence=VSP_050695, VSP_050696; Note=No experimental confirmation available. {ECO:0000305}; Name=CDV-1; IsoId=Q8WYA0-4; Sequence=VSP_018784; Note=Produced by alternative initiation at Met-570 of isoform CDV-1R.; 


uniprotID: P09565
length: 113
opentargets: insulin-like growth factor binding [GO:0005520]
name:
Putative insulin-like growth factor 2-associated protein (Cell growth-inhibiting gene 44 protein) (Insulin-like growth factor II-associated protein)

sequence:
MTPGVVHASPPQSQRVPRQAPCEWAIRNIGQKPKEPNCHNCGTHIGLRSKTLRGTPNYLPIRQDTHPPSVIFCLAGVGVPGGTCRPAPCVPRFAALPWATNHPGPGCLSDLRA


uniprotID: P01344
geneSymbol: IGF2
reactome: R-HSA-114608;R-HSA-2404192;R-HSA-2428928;R-HSA-2428933;R-HSA-381426;
pdb: 1GF2;1IGL;2L29;2V5P;3E4Z;3KR3;5L3L;5L3M;5L3N;
length: 180
go: ENSG00000167244;
snps: rs14367 rs1050342 rs12993
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16040806}.
name:
Insulin-like growth factor II (IGF-II) (Somatomedin-A) (T3M-11-derived growth factor) [Cleaved into: Insulin-like growth factor II; Insulin-like growth factor II Ala-25 Del; Preptin]

sequence:
MGIPMGKSMLVLLTFLAFASCCIAAYRPSETLCGGELVDTLQFVCGDRGFYFSRPASRVSRRSRGIVEECCFRSCDLALLETYCATPAKSERDVSTPPTVLPDNFPRYPVGKFFQYDTWKQSTQRLRRGLPALLRARRGHVLAKELEAFREAKRHRPLIALPTQDPAHGGAPPEMASNRK

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; platelet alpha granule lumen [GO:0031093]; growth factor activity [GO:0008083]; hormone activity [GO:0005179]; insulin receptor binding [GO:0005158]; insulin-like growth factor receptor binding [GO:0005159]; integrin binding [GO:0005178]; protein serine/threonine kinase activator activity [GO:0043539]; receptor ligand activity [GO:0048018]; animal organ morphogenesis [GO:0009887]; cellular protein metabolic process [GO:0044267]; embryonic placenta development [GO:0001892]; embryonic placenta morphogenesis [GO:0060669]; exocrine pancreas development [GO:0031017]; glucose metabolic process [GO:0006006]; in utero embryonic development [GO:0001701]; insulin receptor signaling pathway [GO:0008286]; insulin receptor signaling pathway via phosphatidylinositol 3-kinase [GO:0038028]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; osteoblast differentiation [GO:0001649]; platelet degranulation [GO:0002576]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of catalytic activity [GO:0043085]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of glycogen (starch) synthase activity [GO:2000467]; positive regulation of glycogen biosynthetic process [GO:0045725]; positive regulation of insulin receptor signaling pathway [GO:0046628]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of gene expression by genetic imprinting [GO:0006349]; regulation of histone modification [GO:0031056]; regulation of muscle cell differentiation [GO:0051147]; regulation of transcription, DNA-templated [GO:0006355]; skeletal system development [GO:0001501]; striated muscle cell differentiation [GO:0051146]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P01344-1; Sequence=Displayed; Note=Product of 5 different transcripts regulated by 5 different promoters, denominated P0, P1, P2, P3 and P4. {ECO:0000305|PubMed:16531418}; Name=2; IsoId=P01344-2; Sequence=VSP_002708; Name=3; IsoId=P01344-3; Sequence=VSP_045624; Note=Gene prediction based on EST data.; 


uniprotID: A0AUZ9
geneSymbol: KANSL1L
name: KAT8 regulatory NSL complex subunit 1-like protein (MSL1v2)
length: 987
go: ENSG00000144445;
sequence:

opentargets:
NSL complex [GO:0044545]; histone acetyltransferase binding [GO:0035035]; histone H4-K16 acetylation [GO:0043984]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A0AUZ9-1; Sequence=Displayed; Name=2; IsoId=A0AUZ9-2; Sequence=VSP_031499; Name=3; IsoId=A0AUZ9-3; Sequence=VSP_031500, VSP_031501; Name=4; IsoId=A0AUZ9-4; Sequence=VSP_031497, VSP_031498; Note=No experimental confirmation available.; 


uniprotID: P23352
geneSymbol: ANOS1
reactome: R-HSA-190373;R-HSA-5654726;
pdb: 1ZLG;
name: Anosmin-1 (Adhesion molecule-like X-linked) (Kallmann syndrome protein)
length: 680
go: ENSG00000011201;
snps: rs140812865 rs137852517 rs137852515 rs808119 rs144586521 rs137900287 rs775708192 rs199771303
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; extracellular matrix structural constituent [GO:0005201]; heparin binding [GO:0008201]; serine-type endopeptidase inhibitor activity [GO:0004867]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; chemotaxis [GO:0006935]; fibroblast growth factor receptor signaling pathway [GO:0008543]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8842728}; Peripheral membrane protein {ECO:0000269|PubMed:8842728}. Secreted {ECO:0000269|PubMed:8842728}. Note=Proteolytic cleavage may release it from the cell surface into the extracellular space.


uniprotID: O60229
geneSymbol: KALRN
reactome: R-HSA-193648;R-HSA-194840;R-HSA-3928662;R-HSA-416476;R-HSA-416482;R-HSA-5687128;
length: 2985
go: ENSG00000160145;
snps: rs2289838 rs35298864
name:
Kalirin (EC 2.7.11.1) (Huntingtin-associated protein-interacting protein) (Protein Duo) (Serine/threonine-protein kinase with Dbl- and pleckstrin homology domain)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; adult locomotory behavior [GO:0008344]; ephrin receptor signaling pathway [GO:0048013]; G protein-coupled receptor signaling pathway [GO:0007186]; habituation [GO:0046959]; intracellular signal transduction [GO:0035556]; lactation [GO:0007595]; maternal behavior [GO:0042711]; maternal process involved in parturition [GO:0060137]; memory [GO:0007613]; negative regulation of growth hormone secretion [GO:0060125]; nervous system development [GO:0007399]; neuromuscular junction development [GO:0007528]; positive regulation of apoptotic process [GO:0043065]; positive regulation of dendritic spine morphogenesis [GO:0061003]; protein phosphorylation [GO:0006468]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]; social behavior [GO:0035176]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=6;  Name=1; IsoId=O60229-1; Sequence=Displayed; Note=Produced by alternative splicing.; Name=2; IsoId=O60229-2; Sequence=VSP_028910, VSP_028911; Note=Produced by alternative splicing. No experimental confirmation available.; Name=3; IsoId=O60229-3; Sequence=VSP_028905, VSP_028906, VSP_028907, VSP_028908; Note=Produced by alternative initiation at Met-624 of isoform 1. Inferred by similarity.; Name=4; Synonyms=DUET, TRAD; IsoId=O60229-4; Sequence=VSP_028903, VSP_028912, VSP_047353; Note=Produced by alternative splicing.; Name=5; IsoId=O60229-5; Sequence=VSP_028904, VSP_028909, VSP_028913, VSP_028914, VSP_028915; Note=Produced by alternative splicing.; Name=6; IsoId=O60229-6; Sequence=VSP_028903, VSP_028912, VSP_028913; Note=Produced by alternative splicing. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10023074}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10023074}. Note=Associated with the cytoskeleton.


uniprotID: P17612
geneSymbol: PRKACA
name: cAMP-dependent protein kinase catalytic subunit alpha (PKA C-alpha) (EC 2.7.11.11)
length: 351
go: ENSG00000072062;
snps: rs56029020 rs56085217 rs386352352 rs35635531
reactome:
R-HSA-111931;R-HSA-163358;R-HSA-163560;R-HSA-163615;R-HSA-164378;R-HSA-180024;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-381676;R-HSA-392517;R-HSA-422356;R-HSA-432040;R-HSA-4420097;R-HSA-442720;R-HSA-512988;R-HSA-5578775;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5610787;R-HSA-5620912;R-HSA-5621575;R-HSA-5687128;R-HSA-70171;R-HSA-8853659;R-HSA-8854518;R-HSA-8963896;R-HSA-9010642;R-HSA-983231;

pdb:
2GU8;3AGL;3AGM;3AMA;3AMB;3L9L;3L9M;3L9N;3MVJ;3NX8;3OOG;3OVV;3OWP;3OXT;3P0M;3POO;3VQH;4AE6;4AE9;4UJ1;4UJ2;4UJ9;4UJA;4UJB;4WB5;4WB6;4WB7;4WB8;5BX6;5BX7;5IZF;5IZJ;5J5X;5N23;5UZK;6C0U;

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; calcium channel complex [GO:0034704]; cAMP-dependent protein kinase complex [GO:0005952]; centrosome [GO:0005813]; ciliary base [GO:0097546]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; intercellular bridge [GO:0045171]; membrane [GO:0016020]; mitochondrion [GO:0005739]; neuromuscular junction [GO:0031594]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleotide-activated protein kinase complex [GO:0031588]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane raft [GO:0044853]; sperm flagellum [GO:0036126]; sperm midpiece [GO:0097225]; ATP binding [GO:0005524]; cAMP-dependent protein kinase activity [GO:0004691]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; protein domain specific binding [GO:0019904]; protein kinase A regulatory subunit binding [GO:0034237]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; ubiquitin protein ligase binding [GO:0031625]; activation of protein kinase A activity [GO:0034199]; blood coagulation [GO:0007596]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; cellular response to epinephrine stimulus [GO:0071872]; cellular response to glucagon stimulus [GO:0071377]; cellular response to glucose stimulus [GO:0071333]; cellular response to heat [GO:0034605]; cellular response to parathyroid hormone stimulus [GO:0071374]; ciliary basal body-plasma membrane docking [GO:0097711]; cytokine-mediated signaling pathway [GO:0019221]; G2/M transition of mitotic cell cycle [GO:0000086]; high-density lipoprotein particle assembly [GO:0034380]; mesoderm formation [GO:0001707]; modulation of chemical synaptic transmission [GO:0050804]; mRNA processing [GO:0006397]; negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:1901621]; neural tube closure [GO:0001843]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of protein export from nucleus [GO:0046827]; protein autophosphorylation [GO:0046777]; protein kinase A signaling [GO:0010737]; protein phosphorylation [GO:0006468]; regulation of bicellular tight junction assembly [GO:2000810]; regulation of cardiac conduction [GO:1903779]; regulation of cardiac muscle contraction [GO:0055117]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of heart rate [GO:0002027]; regulation of macroautophagy [GO:0016241]; regulation of osteoblast differentiation [GO:0045667]; regulation of proteasomal protein catabolic process [GO:0061136]; regulation of protein binding [GO:0043393]; regulation of protein processing [GO:0070613]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; renal water homeostasis [GO:0003091]; sperm capacitation [GO:0048240]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

drug:
DB07107;DB06959;DB07857;DB07860;DB08073;DB06977;DB08568;DB07858;DB08756;DB07855;DB07876;DB08070;DB08113;DB07859;DB07996;DB07856;DB04098;DB02611;DB01940;DB02155;DB08846;DB04707;DB07947;DB08231;DB07995;DB07997;DB07854;DB01919;DB04522;DB02482;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=C-alpha-1; IsoId=P17612-1; Sequence=Displayed; Name=2; Synonyms=C-alpha-2, C-alpha-S, C(s); IsoId=P17612-2; Sequence=VSP_004759; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Nucleus {ECO:0000250}. Mitochondrion {ECO:0000250}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=Translocates into the nucleus (monomeric catalytic subunit). The inactive holoenzyme is found in the cytoplasm. Distributed throughout the cytoplasm in meiotically incompetent oocytes. Associated to mitochondrion as meiotic competence is acquired. Aggregates around the germinal vesicles (GV) at the immature GV stage oocytes (By similarity). Colocalizes with HSF1 in nuclear stress bodies (nSBs) upon heat shock (PubMed:21085490). {ECO:0000250, ECO:0000269|PubMed:21085490}.; SUBCELLULAR LOCATION: Isoform 2: Cell projection, cilium, flagellum {ECO:0000269|PubMed:10906071}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:P05132}. Note=Expressed in the midpiece region of the sperm flagellum (PubMed:10906071). Colocalizes with MROH2B and TCP11 on the acrosome and tail regions in round spermatids and spermatozoa regardless of the capacitation status of the sperm (By similarity). {ECO:0000250|UniProtKB:P05132, ECO:0000269|PubMed:10906071}.


uniprotID: P22694
geneSymbol: PRKACB
name: cAMP-dependent protein kinase catalytic subunit beta (PKA C-beta) (EC 2.7.11.11)
length: 351
go: ENSG00000142875;
drug: DB02482;
snps: rs36117118
reactome:
R-HSA-111931;R-HSA-163358;R-HSA-163560;R-HSA-163615;R-HSA-164378;R-HSA-180024;R-HSA-381676;R-HSA-392517;R-HSA-422356;R-HSA-432040;R-HSA-4420097;R-HSA-442720;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5610787;R-HSA-5621575;R-HSA-5687128;R-HSA-70171;R-HSA-8853659;R-HSA-8963896;R-HSA-9010642;R-HSA-983231;

sequence:

opentargets:
cAMP-dependent protein kinase complex [GO:0005952]; centrosome [GO:0005813]; ciliary base [GO:0097546]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intercellular bridge [GO:0045171]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; cAMP-dependent protein kinase activity [GO:0004691]; kinase activity [GO:0016301]; magnesium ion binding [GO:0000287]; protein kinase A regulatory subunit binding [GO:0034237]; protein serine/threonine kinase activity [GO:0004674]; ubiquitin protein ligase binding [GO:0031625]; activation of protein kinase A activity [GO:0034199]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; blood coagulation [GO:0007596]; cellular response to glucagon stimulus [GO:0071377]; high-density lipoprotein particle assembly [GO:0034380]; negative regulation of meiotic cell cycle [GO:0051447]; negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:1901621]; neural tube closure [GO:0001843]; protein phosphorylation [GO:0006468]; regulation of protein processing [GO:0070613]; renal water homeostasis [GO:0003091]; response to clozapine [GO:0097338]; signal transduction [GO:0007165]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; Synonyms=Beta1; IsoId=P22694-1; Sequence=Displayed; Name=2; Synonyms=Beta2; IsoId=P22694-2; Sequence=VSP_017364; Name=3; Synonyms=Beta3; IsoId=P22694-3; Sequence=VSP_017369, VSP_017370; Note=Incomplete sequence.; Name=4; Synonyms=Beta4; IsoId=P22694-4; Sequence=VSP_017368, VSP_017371; Note=Incomplete sequence.; Name=5; Synonyms=Beta4ab; IsoId=P22694-5; Sequence=VSP_017366; Note=Incomplete sequence.; Name=6; Synonyms=Beta4abc; IsoId=P22694-6; Sequence=VSP_017365; Name=7; IsoId=P22694-7; Sequence=VSP_017367; Note=No experimental confirmation available.; Name=8; IsoId=P22694-8; Sequence=VSP_036556, VSP_036557; Name=9; IsoId=P22694-9; Sequence=VSP_043372; Note=No experimental confirmation available.; Name=10; IsoId=P22694-10; Sequence=VSP_017366, VSP_046238; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21423175}. Cell membrane {ECO:0000269|PubMed:21423175}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Nucleus {ECO:0000250}. Note=Translocates into the nucleus (monomeric catalytic subunit). The inactive holoenzyme is found in the cytoplasm. {ECO:0000250}.


uniprotID: P22612
geneSymbol: PRKACG
name: cAMP-dependent protein kinase catalytic subunit gamma (PKA C-gamma) (EC 2.7.11.11)
length: 351
go: ENSG00000165059;
snps: rs724159972 rs56287972 rs3730386
reactome:
R-HSA-111931;R-HSA-163358;R-HSA-163560;R-HSA-163615;R-HSA-164378;R-HSA-180024;R-HSA-381676;R-HSA-392517;R-HSA-422356;R-HSA-432040;R-HSA-4420097;R-HSA-442720;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5610787;R-HSA-5621575;R-HSA-5687128;R-HSA-70171;R-HSA-8853659;R-HSA-8963896;R-HSA-9010642;R-HSA-983231;

sequence:

opentargets:
ciliary base [GO:0097546]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; cAMP-dependent protein kinase activity [GO:0004691]; protein serine/threonine kinase activity [GO:0004674]; activation of protein kinase A activity [GO:0034199]; blood coagulation [GO:0007596]; cellular response to glucagon stimulus [GO:0071377]; high-density lipoprotein particle assembly [GO:0034380]; male gonad development [GO:0008584]; renal water homeostasis [GO:0003091]; spermatogenesis [GO:0007283]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]


uniprotID: Q8N6L0
geneSymbol: CCDC155
name: Protein KASH5 (Coiled-coil domain-containing protein 155) (KASH domain-containing protein 5)
length: 562
go: ENSG00000161609;
snps: rs8102582 rs10405154
sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; integral component of membrane [GO:0016021]; lateral element [GO:0000800]; meiotic nuclear membrane microtubule tethering complex [GO:0034993]; meiotic spindle pole [GO:0090619]; nuclear outer membrane [GO:0005640]; dynein complex binding [GO:0070840]; identical protein binding [GO:0042802]; actin filament organization [GO:0007015]; chromosome localization to nuclear envelope involved in homologous chromosome segregation [GO:0090220]; double-strand break repair via homologous recombination [GO:0000724]; microtubule cytoskeleton organization involved in homologous chromosome segregation [GO:0090172]; oogenesis [GO:0048477]; spermatogenesis [GO:0007283]; spindle assembly [GO:0051225]; spindle localization [GO:0051653]; synapsis [GO:0007129]; telomere localization [GO:0034397]

location:
SUBCELLULAR LOCATION: Nucleus outer membrane {ECO:0000250|UniProtKB:Q80VJ8, ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Nucleus {ECO:0000250|UniProtKB:Q80VJ8}. Chromosome, telomere {ECO:0000250|UniProtKB:Q80VJ8}. Note=Localized exclusively at telomeres from the leptotene to diplotene stages. Colocalizes with SUN2 at sites of telomere attachment in meiocytes. At oocyte MI stage localized around the spindle, at MII stage localized to the spindle poles. {ECO:0000250|UniProtKB:Q80VJ8}.


uniprotID: Q16773
geneSymbol: KYAT1
reactome: R-HSA-70614;R-HSA-71182;R-HSA-71240;
pdb: 1W7L;1W7M;1W7N;3FVS;3FVU;3FVX;4WLH;4WLJ;4WP0;
length: 422
go: ENSG00000171097;
drug: DB07950;DB02556;DB00130;DB04083;DB00114;DB02142;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Kynurenine--oxoglutarate transaminase 1 (EC 2.6.1.7) (Cysteine-S-conjugate beta-lyase) (EC 4.4.1.13) (Glutamine transaminase K) (GTK) (Glutamine--phenylpyruvate transaminase) (EC 2.6.1.64) (Kynurenine aminotransferase 1) (Kynurenine aminotransferase I) (KATI) (Kynurenine--oxoglutarate transaminase I)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; cysteine-S-conjugate beta-lyase activity [GO:0047804]; glutamine-phenylpyruvate transaminase activity [GO:0047316]; kynurenine-oxoglutarate transaminase activity [GO:0016212]; L-glutamine:pyruvate aminotransferase activity [GO:0047945]; L-phenylalanine:pyruvate aminotransferase activity [GO:0047312]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; transaminase activity [GO:0008483]; cellular amino acid biosynthetic process [GO:0008652]; cellular modified amino acid metabolic process [GO:0006575]; kynurenine metabolic process [GO:0070189]; L-kynurenine catabolic process [GO:0097053]; L-phenylalanine catabolic process [GO:0006559]; tryptophan catabolic process [GO:0006569]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16773-1; Sequence=Displayed; Name=2; IsoId=Q16773-2; Sequence=VSP_009875; Name=3; IsoId=Q16773-3; Sequence=VSP_009876, VSP_009877; 


uniprotID: Q92830
geneSymbol: KAT2A
pdb: 1F68;1Z4R;3D7C;5H84;5H86;5MLJ;5TRL;5TRM;
length: 837
go: ENSG00000108773;
drug: DB01992;
reactome:
R-HSA-1912408;R-HSA-210744;R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;R-HSA-3214847;R-HSA-350054;R-HSA-5250924;R-HSA-5689880;R-HSA-73762;R-HSA-8941856;R-HSA-9013508;R-HSA-9013695;

name:
Histone acetyltransferase KAT2A (EC 2.3.1.48) (General control of amino acid synthesis protein 5-like 2) (Histone acetyltransferase GCN5) (hGCN5) (Histone succinyltransferase KAT2A) (EC 2.3.1.-) (Lysine acetyltransferase 2A) (STAF97)

sequence:

opentargets:
Ada2/Gcn5/Ada3 transcription activator complex [GO:0005671]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; mitotic spindle [GO:0072686]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; STAGA complex [GO:0030914]; transcription factor TFTC complex [GO:0033276]; chromatin binding [GO:0003682]; H3 histone acetyltransferase activity [GO:0010484]; histone acetyltransferase activity [GO:0004402]; histone acetyltransferase activity (H4-K12 specific) [GO:0043997]; histone deacetylase binding [GO:0042826]; histone succinyltransferase activity [GO:0106078]; peptide-lysine-N-acetyltransferase activity [GO:0061733]; protein phosphatase binding [GO:0019903]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; alpha-tubulin acetylation [GO:0071929]; cell proliferation [GO:0008283]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to tumor necrosis factor [GO:0071356]; chromatin remodeling [GO:0006338]; cytokine production [GO:0001816]; heart development [GO:0007507]; histone deubiquitination [GO:0016578]; histone H3 acetylation [GO:0043966]; histone H3-K14 acetylation [GO:0044154]; histone succinylation [GO:0106077]; in utero embryonic development [GO:0001701]; internal peptidyl-lysine acetylation [GO:0018393]; intracellular distribution of mitochondria [GO:0048312]; limb development [GO:0060173]; long-term memory [GO:0007616]; metencephalon development [GO:0022037]; midbrain development [GO:0030901]; multicellular organism growth [GO:0035264]; negative regulation of centriole replication [GO:0046600]; neural tube closure [GO:0001843]; positive regulation of cardiac muscle cell differentiation [GO:2000727]; positive regulation of cell projection organization [GO:0031346]; positive regulation of gene expression, epigenetic [GO:0045815]; positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter [GO:0035948]; positive regulation of histone acetylation [GO:0035066]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; regulation of protein stability [GO:0031647]; regulation of regulatory T cell differentiation [GO:0045589]; regulation of synaptic plasticity [GO:0048167]; regulation of T cell activation [GO:0050863]; regulation of transcription by RNA polymerase II [GO:0006357]; response to nutrient levels [GO:0031667]; response to organic cyclic compound [GO:0014070]; somitogenesis [GO:0001756]; telencephalon development [GO:0021537]; transcription by RNA polymerase II [GO:0006366]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=GCN5-L; IsoId=Q92830-1; Sequence=Displayed; Name=2; Synonyms=GCN5-S; IsoId=Q92830-2; Sequence=VSP_000556; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11564863, ECO:0000269|PubMed:27796307, ECO:0000269|PubMed:29211711}. Chromosome {ECO:0000269|PubMed:29211711}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:27796307}. Note=Mainly localizes to the nucleus. Also localizes to centrosomes in late G1 and around the G1/S transition, coinciding with the onset of centriole formation. {ECO:0000269|PubMed:27796307}.


