# annotation

uniprotID: Q9UQN3
geneSymbol: CHMP2B
reactome: R-HSA-162588;R-HSA-1632852;R-HSA-917729;
pdb: 2JQK;
length: 213
go: ENSG00000083937;
snps: rs63750818 rs281864934 rs63750653 rs63751126
name:
Charged multivesicular body protein 2b (CHMP2.5) (Chromatin-modifying protein 2b) (CHMP2b) (Vacuolar protein sorting-associated protein 2-2) (Vps2-2) (hVps2-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ESCRT III complex [GO:0000815]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; intracellular [GO:0005622]; late endosome membrane [GO:0031902]; multivesicular body [GO:0005771]; postsynaptic density [GO:0014069]; cadherin binding [GO:0045296]; protein domain specific binding [GO:0019904]; autophagy [GO:0006914]; cognition [GO:0050890]; endosomal transport [GO:0016197]; endosome organization [GO:0007032]; endosome transport via multivesicular body sorting pathway [GO:0032509]; ESCRT III complex disassembly [GO:1904903]; late endosome to vacuole transport [GO:0045324]; macroautophagy [GO:0016236]; midbody abscission [GO:0061952]; mitotic metaphase plate congression [GO:0007080]; multivesicular body assembly [GO:0036258]; multivesicular body-lysosome fusion [GO:0061763]; neuron cellular homeostasis [GO:0070050]; nucleus organization [GO:0006997]; positive regulation of viral release from host cell [GO:1902188]; protein transport [GO:0015031]; regulation of centrosome duplication [GO:0010824]; regulation of mitotic spindle assembly [GO:1901673]; regulation of modification of postsynaptic structure [GO:0099159]; regulation of postsynapse organization [GO:0099175]; septum digestion after cytokinesis [GO:0000920]; viral budding via host ESCRT complex [GO:0039702]; viral life cycle [GO:0019058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UQN3-1; Sequence=Displayed; Name=2; IsoId=Q9UQN3-2; Sequence=VSP_045142; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16041373}. Late endosome membrane {ECO:0000305|PubMed:16041373}; Peripheral membrane protein {ECO:0000305|PubMed:16041373}.


uniprotID: Q9P2W7
geneSymbol: B3GAT1
reactome: R-HSA-1971475;
pdb: 1V82;1V83;1V84;
length: 334
go: ENSG00000109956;
drug: DB01694;DB09459;DB03435;
snps: rs35434644
name:
Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 (EC 2.4.1.135) (Beta-1,3-glucuronyltransferase 1) (Glucuronosyltransferase P) (GlcAT-P) (UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase) (GlcUAT-P)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity [GO:0015018]; metal ion binding [GO:0046872]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; carbohydrate metabolic process [GO:0005975]; chondroitin sulfate proteoglycan biosynthetic process [GO:0050650]; glycosaminoglycan metabolic process [GO:0030203]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=sGlcAT-P {ECO:0000250|UniProtKB:O35789}; IsoId=Q9P2W7-1; Sequence=Displayed; Name=2; Synonyms=lGlcAT-P {ECO:0000250|UniProtKB:O35789}; IsoId=Q9P2W7-2; Sequence=VSP_058538; 

location:
SUBCELLULAR LOCATION: Isoform 1: Golgi apparatus membrane {ECO:0000250|UniProtKB:O35789}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:O35789}. Secreted {ECO:0000250|UniProtKB:O35789}.; SUBCELLULAR LOCATION: Isoform 2: Golgi apparatus membrane {ECO:0000250|UniProtKB:O35789}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:O35789}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:O35789}. Secreted {ECO:0000250|UniProtKB:O35789}.


uniprotID: Q9NPZ5
geneSymbol: B3GAT2
reactome: R-HSA-1971475;
pdb: 2D0J;
length: 323
go: ENSG00000112309;
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
name:
Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 (EC 2.4.1.135) (Beta-1,3-glucuronyltransferase 2) (GlcAT-D) (UDP-glucuronosyltransferase S) (GlcAT-S) (Glucuronosyltransferase S)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity [GO:0015018]; metal ion binding [GO:0046872]; chondroitin sulfate proteoglycan biosynthetic process [GO:0050650]; glycosaminoglycan metabolic process [GO:0030203]; protein glycosylation [GO:0006486]


uniprotID: O94766
geneSymbol: B3GAT3
reactome: R-HSA-1971475;R-HSA-3560801;
pdb: 1FGG;1KWS;3CU0;
length: 335
go: ENSG00000149541;
drug: DB03041;DB03435;
snps: rs879255269 rs372487178 rs387906937
name:
Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (EC 2.4.1.135) (Beta-1,3-glucuronyltransferase 3) (Glucuronosyltransferase I) (GlcAT-I) (UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase) (GlcUAT-I)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity [GO:0015018]; glucuronosyltransferase activity [GO:0015020]; metal ion binding [GO:0046872]; protein phosphatase activator activity [GO:0072542]; chondroitin sulfate proteoglycan biosynthetic process [GO:0050650]; dermatan sulfate proteoglycan biosynthetic process [GO:0050651]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan metabolic process [GO:0030203]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; positive regulation of catalytic activity [GO:0043085]; positive regulation of intracellular protein transport [GO:0090316]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94766-1; Sequence=Displayed; Name=2; IsoId=O94766-2; Sequence=VSP_056347; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:21763480}; Single-pass type II membrane protein {ECO:0000269|PubMed:21763480}. Golgi apparatus, cis-Golgi network {ECO:0000269|PubMed:21763480, ECO:0000269|PubMed:25893793}.


uniprotID: Q8NCR0
geneSymbol: B3GALNT2
reactome: R-HSA-5173105;
length: 500
go: ENSG00000162885;
snps: rs367543072 rs367543073 rs367543074 rs367543076
name:
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 (Beta-1,3-GalNAc-T2) (EC 2.4.1.313) (Beta-1,3-N-acetylgalactosaminyltransferase II)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; acetylglucosaminyltransferase activity [GO:0008375]; galactosyltransferase activity [GO:0008378]; protein glycosylation [GO:0006486]; protein O-linked glycosylation [GO:0006493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCR0-1; Sequence=Displayed; Name=2; IsoId=Q8NCR0-2; Sequence=VSP_020250, VSP_020251, VSP_020252; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Endoplasmic reticulum {ECO:0000269|PubMed:23453667}.


uniprotID: Q6Y288
geneSymbol: B3GLCT
reactome: R-HSA-5083635;R-HSA-5173214;
length: 498
go: ENSG00000187676;
snps: rs1041073
name:
Beta-1,3-glucosyltransferase (Beta3Glc-T) (EC 2.4.1.-) (Beta 3-glucosyltransferase) (Beta-3-glycosyltransferase-like)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; acetylglucosaminyltransferase activity [GO:0008375]; transferase activity, transferring glycosyl groups [GO:0016757]; fucose metabolic process [GO:0006004]; protein O-linked fucosylation [GO:0036066]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:16899492}; Single-pass type II membrane protein {ECO:0000269|PubMed:16899492}.


uniprotID: Q9NY97
geneSymbol: B3GNT2
reactome: R-HSA-2022854;R-HSA-913709;
length: 397
go: ENSG00000170340;
name:
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 (EC 2.4.1.149) (Beta-1,3-N-acetylglucosaminyltransferase 1) (BGnT-1) (Beta-1,3-Gn-T1) (Beta3Gn-T1) (Beta-1,3-galactosyltransferase 7) (Beta-1,3-GalTase 7) (Beta3Gal-T7) (Beta3GalT7) (b3Gal-T7) (Beta-3-Gx-T7) (UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 7) (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2) (BGnT-2) (Beta-1,3-Gn-T2) (Beta-1,3-N-acetylglucosaminyltransferase 2) (Beta3Gn-T2) (UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 7)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity [GO:0008532]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; axon guidance [GO:0007411]; cellular response to leukemia inhibitory factor [GO:1990830]; keratan sulfate biosynthetic process [GO:0018146]; O-glycan processing [GO:0016266]; poly-N-acetyllactosamine biosynthetic process [GO:0030311]; protein glycosylation [GO:0006486]; sensory perception of smell [GO:0007608]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NY97-1; Sequence=Displayed; Name=2; IsoId=Q9NY97-2; Sequence=VSP_001791; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q9Y2A9
geneSymbol: B3GNT3
reactome: R-HSA-2022854;R-HSA-913709;
length: 372
go: ENSG00000179913;
snps: rs36686
name:
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 (EC 2.4.1.149) (Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase) (EC 2.4.1.146) (Beta-1,3-galactosyltransferase 8) (Beta-1,3-GalTase 8) (Beta3Gal-T8) (Beta3GalT8) (b3Gal-T8) (Beta-3-Gx-T8) (Core 1 extending beta-1,3-N-acetylglucosaminyltransferase) (Core1-beta3GlcNAcT) (Transmembrane protein 3) (UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8) (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3) (BGnT-3) (Beta-1,3-Gn-T3) (Beta-1,3-N-acetylglucosaminyltransferase 3) (Beta3Gn-T3) (UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; acetylgalactosaminyltransferase activity [GO:0008376]; beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity [GO:0047223]; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity [GO:0008532]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; keratan sulfate biosynthetic process [GO:0018146]; O-glycan processing [GO:0016266]; poly-N-acetyllactosamine biosynthetic process [GO:0030311]; protein glycosylation [GO:0006486]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q9C0J1
geneSymbol: B3GNT4
reactome: R-HSA-2022854;R-HSA-913709;
length: 378
go: ENSG00000176383;
snps: rs7136356 rs1001178 rs35203505
name:
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 (EC 2.4.1.149) (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4) (BGnT-4) (Beta-1,3-Gn-T4) (Beta-1,3-N-acetylglucosaminyltransferase 4) (Beta3Gn-T4)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity [GO:0008532]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; keratan sulfate biosynthetic process [GO:0018146]; O-glycan processing [GO:0016266]; poly-N-acetyllactosamine biosynthetic process [GO:0030311]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C0J1-1; Sequence=Displayed; Name=2; IsoId=Q9C0J1-2; Sequence=VSP_025962; 


uniprotID: O43825
geneSymbol: B3GALT2
length: 422
go: ENSG00000162630;
name:
Beta-1,3-galactosyltransferase 2 (Beta-1,3-GalTase 2) (Beta3Gal-T2) (Beta3GalT2) (EC 2.4.1.86) (UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity [GO:0047275]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; galactosylceramide biosynthetic process [GO:0006682]; oligosaccharide biosynthetic process [GO:0009312]; protein glycosylation [GO:0006486]; protein N-linked glycosylation [GO:0006487]


uniprotID: P15291
geneSymbol: B4GALT1
pdb: 2AE7;2AEC;2AES;2AGD;2AH9;2FY7;2FYA;2FYB;3EE5;4EE3;4EE4;4EE5;4EEA;4EEG;4EEM;4EEO;4L41;
length: 398
go: ENSG00000086062;
drug: DB03814;DB03013;DB03501;DB00141;DB03685;
snps: rs1065764 rs9169
reactome:
R-HSA-1300644;R-HSA-1912420;R-HSA-2022854;R-HSA-3656244;R-HSA-4793953;R-HSA-5653890;R-HSA-6798695;R-HSA-975577;

name:
Beta-1,4-galactosyltransferase 1 (Beta-1,4-GalTase 1) (Beta4Gal-T1) (b4Gal-T1) (EC 2.4.1.-) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1) [Cleaved into: Processed beta-1,4-galactosyltransferase 1] [Includes: Lactose synthase A protein (EC 2.4.1.22); N-acetyllactosamine synthase (EC 2.4.1.90) (Nal synthase); Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase (EC 2.4.1.38); Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase (EC 2.4.1.-)]

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; basolateral plasma membrane [GO:0016323]; brush border membrane [GO:0031526]; desmosome [GO:0030057]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; filopodium [GO:0030175]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; Golgi trans cisterna [GO:0000138]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; alpha-tubulin binding [GO:0043014]; beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity [GO:0003831]; beta-tubulin binding [GO:0048487]; galactosyltransferase activity [GO:0008378]; lactose synthase activity [GO:0004461]; manganese ion binding [GO:0030145]; N-acetyllactosamine synthase activity [GO:0003945]; protein homodimerization activity [GO:0042803]; UDP-galactosyltransferase activity [GO:0035250]; acute inflammatory response [GO:0002526]; angiogenesis involved in wound healing [GO:0060055]; binding of sperm to zona pellucida [GO:0007339]; cell adhesion [GO:0007155]; development of secondary sexual characteristics [GO:0045136]; epithelial cell development [GO:0002064]; extracellular matrix organization [GO:0030198]; galactose metabolic process [GO:0006012]; keratan sulfate biosynthetic process [GO:0018146]; lactose biosynthetic process [GO:0005989]; leukocyte migration [GO:0050900]; negative regulation of cell proliferation [GO:0008285]; neutrophil degranulation [GO:0043312]; oligosaccharide biosynthetic process [GO:0009312]; penetration of zona pellucida [GO:0007341]; positive regulation of apoptotic process [GO:0043065]; positive regulation of epithelial cell proliferation involved in wound healing [GO:0060054]; protein homooligomerization [GO:0051260]; protein N-linked glycosylation [GO:0006487]; regulation of acrosome reaction [GO:0060046]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=Long; Synonyms=Cell surface; IsoId=P15291-1; Sequence=Displayed; Name=Short; Synonyms=Golgi complex; IsoId=P15291-2; Sequence=VSP_018802; 

location:
SUBCELLULAR LOCATION: Isoform Long: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:1714903, ECO:0000269|PubMed:20378551}; Single-pass type II membrane protein. Cell membrane {ECO:0000269|PubMed:1714903}; Single-pass type II membrane protein. Cell surface {ECO:0000269|PubMed:1714903}. Cell projection, filopodium {ECO:0000250|UniProtKB:P15535}. Note=Found in trans cisternae of Golgi but is mainly localized at the plasma membrane (PubMed:1714903). B4GALT1 cell surface expression is regulated by UBE2Q1 (By similarity). {ECO:0000250|UniProtKB:P15535, ECO:0000269|PubMed:1714903}.; SUBCELLULAR LOCATION: Isoform Short: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:1714903}; Single-pass type II membrane protein. Note=Found in trans cisternae of Golgi. {ECO:0000269|PubMed:1714903}.; SUBCELLULAR LOCATION: Processed beta-1,4-galactosyltransferase 1: Secreted {ECO:0000303|PubMed:2120039}. Note=Soluble form found in body fluids. {ECO:0000303|PubMed:2120039}.


uniprotID: O60513
geneSymbol: B4GALT4
reactome: R-HSA-2022854;R-HSA-975577;
length: 344
go: ENSG00000121578;
drug: DB00141;
snps: rs3764779
name:
Beta-1,4-galactosyltransferase 4 (Beta-1,4-GalTase 4) (Beta4Gal-T4) (b4Gal-T4) (EC 2.4.1.-) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4) [Includes: N-acetyllactosamine synthase (EC 2.4.1.90) (Nal synthase); Lactotriaosylceramide beta-1,4-galactosyltransferase (EC 2.4.1.275) (Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase)]

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity [GO:0003831]; galactosyltransferase activity [GO:0008378]; metal ion binding [GO:0046872]; N-acetyllactosamine synthase activity [GO:0003945]; carbohydrate metabolic process [GO:0005975]; keratan sulfate biosynthetic process [GO:0018146]; membrane lipid metabolic process [GO:0006643]; protein glycosylation [GO:0006486]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans cisternae of Golgi stack.


uniprotID: O43286
geneSymbol: B4GALT5
reactome: R-HSA-2022854;R-HSA-913709;R-HSA-975577;
length: 388
go: ENSG00000158470;
snps: rs2273086 rs235035 rs35195217
name:
Beta-1,4-galactosyltransferase 5 (Beta-1,4-GalTase 5) (Beta4Gal-T5) (b4Gal-T5) (EC 2.4.1.-) (Beta-1,4-GalT II) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity [GO:0003831]; galactosyltransferase activity [GO:0008378]; metal ion binding [GO:0046872]; N-acetyllactosamine synthase activity [GO:0003945]; keratan sulfate biosynthetic process [GO:0018146]; O-glycan processing [GO:0016266]; poly-N-acetyllactosamine biosynthetic process [GO:0030311]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans cisternae of Golgi stack.


uniprotID: Q9UBV7
geneSymbol: B4GALT7
reactome: R-HSA-1971475;R-HSA-3560783;
pdb: 4IRP;4IRQ;
length: 327
go: ENSG00000027847;
snps: rs121917817 rs121917818
name:
Beta-1,4-galactosyltransferase 7 (Beta-1,4-GalTase 7) (Beta4Gal-T7) (b4Gal-T7) (EC 2.4.1.-) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7) [Includes: Xylosylprotein 4-beta-galactosyltransferase (EC 2.4.1.133) (Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I) (UDP-galactose:beta-xylose beta-1,4-galactosyltransferase) (XGPT) (XGalT-1) (Xylosylprotein beta-1,4-galactosyltransferase)]

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity [GO:0003831]; galactosyltransferase activity [GO:0008378]; manganese ion binding [GO:0030145]; xylosylprotein 4-beta-galactosyltransferase activity [GO:0046525]; carbohydrate metabolic process [GO:0005975]; cellular protein modification process [GO:0006464]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan metabolic process [GO:0030203]; negative regulation of fibroblast proliferation [GO:0048147]; protein N-linked glycosylation [GO:0006487]; proteoglycan metabolic process [GO:0006029]; supramolecular fiber organization [GO:0097435]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Cis cisternae of Golgi stack.


uniprotID: Q9BPU9
geneSymbol: B9D2
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5620912;R-HSA-5663220;R-HSA-68877;
name: B9 domain-containing protein 2 (MKS1-related protein 2)
length: 175
go: ENSG00000123810;
snps: rs2241714 rs757863670 rs863225150
sequence:
MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHPIDLHFATKGLQGWPRLHFQVWSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLEIGLLLRNFDRYGVEC

opentargets:
centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cytosol [GO:0005829]; membrane [GO:0016020]; MKS complex [GO:0036038]; nucleus [GO:0005634]; gamma-tubulin binding [GO:0043015]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:19208769}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:19208769}. Nucleus {ECO:0000250}.


uniprotID: Q9H9P2
geneSymbol: CHODL
name: Chondrolectin (Transmembrane protein MT75)
length: 273
go: ENSG00000154645;
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; carbohydrate binding [GO:0030246]; muscle organ development [GO:0007517]; regulation of neuron projection development [GO:0010975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H9P2-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; Synonyms=CHODLF; IsoId=Q9H9P2-2; Sequence=VSP_017275; Note=roduced by alternative promoter usage.; Name=3; Synonyms=CHODLFdeltaE; IsoId=Q9H9P2-3; Sequence=VSP_017275, VSP_017276; Note=Produced by alternative splicing of isoform 2.; Name=4; IsoId=Q9H9P2-4; Sequence=VSP_043300; Note=Produced by alternative splicing of isoform 1. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22042635}. Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum {ECO:0000269|PubMed:12621022}. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:12621022}.


uniprotID: Q8WXS3
geneSymbol: BAALC
name: Brain and acute leukemia cytoplasmic protein
length: 180
go: ENSG00000164929;
snps: rs34542607
sequence:
MGCGGSRADAIEPRYYESWTRETESTWLTYTDSDAPPSAAAPDSGPEAGGLHSVLEAEKSKIKAPTDSVSDEGLFSASKMAPLAVFSHGMLEDGLPSNGVPRSTAPGGIPNPEKKTNCETQCPNPQSLSSGPLTQKQNGLQTTEAKRDAKRMPAKEVTINVTDSIQQMDRSRRITKNCVN

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=1-5-6-8; IsoId=Q8WXS3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; Synonyms=1-6-8; IsoId=Q8WXS3-2; Sequence=VSP_020196; Name=3; Synonyms=1-5-6-7-8; IsoId=Q8WXS3-3; Sequence=VSP_020197, VSP_020198; Note=No experimental confirmation available.; Name=4; Synonyms=1-2; IsoId=Q8WXS3-4; Sequence=VSP_020199, VSP_020200; Note=No experimental confirmation available.; Name=5; Synonyms=1-4-5-6-8; IsoId=Q8WXS3-5; Sequence=VSP_020201, VSP_020202; Note=No experimental confirmation available.; Name=6; Synonyms=1-8; IsoId=Q8WXS3-6; Sequence=VSP_020203, VSP_020204; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11707601}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q920K5}. Membrane raft {ECO:0000250|UniProtKB:Q920K5}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q920K5}. Note=In neurons, localizes to postsynaptic lipid rafts (By similarity). In myocardial and skeletal muscle cells, localizes to the cytoplasm adjacent to the inner cell membrane, polarized to one end of the myocyte (By similarity). {ECO:0000250|UniProtKB:Q8VHV1, ECO:0000250|UniProtKB:Q920K5}.


uniprotID: Q9NXR7
geneSymbol: BABAM2
reactome: R-HSA-5689901;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-69473;
length: 383
go: ENSG00000158019;
name:
BRISC and BRCA1-A complex member 2 (BRCA1-A complex subunit BRE) (BRCA1/BRCA2-containing complex subunit 45) (Brain and reproductive organ-expressed protein)

sequence:

opentargets:
BRCA1-A complex [GO:0070531]; BRISC complex [GO:0070552]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear ubiquitin ligase complex [GO:0000152]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; peroxisome targeting sequence binding [GO:0000268]; polyubiquitin modification-dependent protein binding [GO:0031593]; tumor necrosis factor receptor binding [GO:0005164]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular response to DNA damage stimulus [GO:0006974]; chromatin organization [GO:0006325]; double-strand break repair [GO:0006302]; double-strand break repair via nonhomologous end joining [GO:0006303]; negative regulation of apoptotic process [GO:0043066]; positive regulation of DNA repair [GO:0045739]; protein deubiquitination [GO:0016579]; protein K63-linked deubiquitination [GO:0070536]; response to ionizing radiation [GO:0010212]; signal transduction [GO:0007165]; signal transduction involved in G2 DNA damage checkpoint [GO:0072425]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms may exist. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:14636569}; IsoId=Q9NXR7-2; Sequence=Displayed; Name=1 {ECO:0000305}; IsoId=Q9NXR7-1; Sequence=VSP_051956; Name=3 {ECO:0000269|PubMed:11676476}; Synonyms=Alpha a'; IsoId=Q9NXR7-3; Sequence=VSP_051957; Name=4; IsoId=Q9NXR7-4; Sequence=VSP_037261; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15465831, ECO:0000269|PubMed:24075985}. Nucleus {ECO:0000269|PubMed:15465831, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:24075985}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000269|PubMed:19261748}.


uniprotID: Q9UHD1
geneSymbol: CHORDC1
pdb: 2YRT;
length: 332
go: ENSG00000110172;
snps: rs1045861
name:
Cysteine and histidine-rich domain-containing protein 1 (CHORD domain-containing protein 1) (CHORD-containing protein 1) (CHP-1) (Protein morgana)

sequence:

opentargets:
ADP binding [GO:0043531]; ATP binding [GO:0005524]; Hsp90 protein binding [GO:0051879]; zinc ion binding [GO:0008270]; chaperone-mediated protein folding [GO:0061077]; negative regulation of Rho-dependent protein serine/threonine kinase activity [GO:2000299]; regulation of cellular response to heat [GO:1900034]; regulation of centrosome duplication [GO:0010824]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UHD1-1; Sequence=Displayed; Name=2; IsoId=Q9UHD1-2; Sequence=VSP_031150; Note=No experimental confirmation available.; 


uniprotID: Q9H2X0
geneSymbol: CHRD
name: Chordin
length: 955
go: ENSG00000090539;
snps: rs34095724 rs16858780
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; cytokine binding [GO:0019955]; heparin binding [GO:0008201]; syndecan binding [GO:0045545]; BMP signaling pathway involved in spinal cord dorsal/ventral patterning [GO:0021919]; floor plate development [GO:0033504]; forebrain development [GO:0030900]; gastrulation with mouth forming second [GO:0001702]; mesoderm formation [GO:0001707]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of cell migration [GO:0030336]; negative regulation of osteoblast differentiation [GO:0045668]; osteoblast differentiation [GO:0001649]; positive regulation of cell adhesion [GO:0045785]; positive regulation of mesenchymal cell proliferation [GO:0002053]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9H2X0-1; Sequence=Displayed; Name=2; IsoId=Q9H2X0-2; Sequence=VSP_001069, VSP_001070; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q9H2X0-3; Sequence=VSP_001071, VSP_001072; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q9H2X0-4; Sequence=VSP_001073, VSP_001074; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; IsoId=Q9H2X0-5; Sequence=VSP_001075; 


uniprotID: O75531
geneSymbol: BANF1
pdb: 1CI4;1QCK;2BZF;2EZX;2EZY;2EZZ;2ODG;6GHD;
sequence: MTTSQKHRDFVAEPMGEKPVGSLAGIGEVLGKKLEERGFDKAYVVLGQFLVLKKDEDLFREWLKDTCGANAKQSRDCFGCLREWCDAFL
length: 89
go: ENSG00000175334;
snps: rs387906871
reactome:
R-HSA-162592;R-HSA-164843;R-HSA-175567;R-HSA-177539;R-HSA-180689;R-HSA-180910;R-HSA-2993913;R-HSA-2995383;

name:
Barrier-to-autointegration factor (Breakpoint cluster region protein 1) [Cleaved into: Barrier-to-autointegration factor, N-terminally processed]

opentargets:
condensed chromosome [GO:0000793]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; LEM domain binding [GO:0097726]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; protein N-terminus binding [GO:0047485]; DNA integration [GO:0015074]; establishment of integrated proviral latency [GO:0075713]; mitotic nuclear envelope reassembly [GO:0007084]; negative regulation of viral genome replication [GO:0045071]; nuclear transport [GO:0051169]; response to virus [GO:0009615]

location:
SUBCELLULAR LOCATION: Barrier-to-autointegration factor: Nucleus {ECO:0000269|PubMed:16495336, ECO:0000269|PubMed:24600006}. Cytoplasm {ECO:0000269|PubMed:16495336, ECO:0000269|PubMed:24600006}. Chromosome {ECO:0000269|PubMed:16495336}. Nucleus envelope {ECO:0000269|PubMed:24600006}. Note=Significantly enriched at the nuclear inner membrane, diffusely throughout the nucleus during interphase and concentrated at the chromosomes during the M-phase. The phosphorylated form (by VRK1 or vaccinia virus B1 kinase) shows a cytoplasmic localization whereas the unphosphorylated form locates almost exclusively in the nucleus (PubMed:24600006, PubMed:16495336). May be included in HIV-1 virions via its interaction with viral GAG polyprotein. {ECO:0000269|PubMed:16495336, ECO:0000269|PubMed:24600006}.


uniprotID: Q9H3F6
geneSymbol: KCTD10
pdb: 5FTA;
length: 313
go: ENSG00000110906;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19125419}.
name:
BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 (hBACURD3) (BTB/POZ domain-containing protein KCTD10) (Potassium channel tetramerization domain-containing protein 10)

sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; Notch binding [GO:0005112]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein homooligomerization [GO:0051260]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H3F6-1; Sequence=Displayed; Name=2; IsoId=Q9H3F6-2; Sequence=VSP_019980; Note=No experimental confirmation available.; Name=3; IsoId=Q9H3F6-3; Sequence=VSP_019978, VSP_019979; Note=No experimental confirmation available.; 


uniprotID: O95816
geneSymbol: BAG2
reactome: R-HSA-3371453;
name: BAG family molecular chaperone regulator 2 (BAG-2) (Bcl-2-associated athanogene 2)
length: 211
go: ENSG00000112208;
sequence:

opentargets:
axon [GO:0030424]; chaperone complex [GO:0101031]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic microtubule [GO:1901588]; adenyl-nucleotide exchange factor activity [GO:0000774]; chaperone binding [GO:0051087]; heat shock protein binding [GO:0031072]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; tau protein binding [GO:0048156]; ubiquitin protein ligase binding [GO:0031625]; negative regulation of protein binding [GO:0032091]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of ubiquitin protein ligase activity [GO:1904667]; positive regulation of proteasomal protein catabolic process [GO:1901800]; positive regulation of protein processing [GO:0010954]; protein folding [GO:0006457]; protein metabolic process [GO:0019538]; protein stabilization [GO:0050821]; regulation of cellular response to heat [GO:1900034]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95816-1; Sequence=Displayed; Name=2; IsoId=O95816-2; Sequence=VSP_056462; Note=No experimental confirmation available.; 


uniprotID: Q9UQB8
geneSymbol: BAIAP2
reactome: R-HSA-2029482;R-HSA-4420097;R-HSA-5663213;
pdb: 1WDZ;1Y2O;2YKT;3RNJ;4JS0;
length: 552
go: ENSG00000175866;
snps: rs4969391
name:
Brain-specific angiogenesis inhibitor 1-associated protein 2 (BAI-associated protein 2) (BAI1-associated protein 2) (Protein BAP2) (Fas ligand-associated factor 3) (FLAF3) (Insulin receptor substrate p53/p58) (IRS-58) (IRSp53/58) (Insulin receptor substrate protein of 53 kDa) (IRSp53) (Insulin receptor substrate p53)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic shaft [GO:0043198]; dendritic spine cytoplasm [GO:0061846]; excitatory synapse [GO:0060076]; extracellular exosome [GO:0070062]; filopodium [GO:0030175]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; neuron projection branch point [GO:0061845]; neuron projection terminus [GO:0044306]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; postsynaptic cytosol [GO:0099524]; postsynaptic density, intracellular component [GO:0099092]; presynaptic cytosol [GO:0099523]; rough endoplasmic reticulum [GO:0005791]; ruffle [GO:0001726]; Schaffer collateral - CA1 synapse [GO:0098685]; secretory granule [GO:0030141]; synaptic membrane [GO:0097060]; cadherin binding involved in cell-cell adhesion [GO:0098641]; cytoskeletal adaptor activity [GO:0008093]; identical protein binding [GO:0042802]; PDZ domain binding [GO:0030165]; proline-rich region binding [GO:0070064]; protein C-terminus binding [GO:0008022]; scaffold protein binding [GO:0097110]; transcription cofactor binding [GO:0001221]; actin crosslink formation [GO:0051764]; actin filament bundle assembly [GO:0051017]; axonogenesis [GO:0007409]; brain development [GO:0007420]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to L-glutamate [GO:1905232]; dendrite development [GO:0016358]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; insulin receptor signaling pathway [GO:0008286]; modification of synaptic structure, modulating synaptic transmission [GO:0099564]; plasma membrane organization [GO:0007009]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of excitatory postsynaptic potential [GO:2000463]; protein localization to synapse [GO:0035418]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cell shape [GO:0008360]; regulation of modification of postsynaptic actin cytoskeleton [GO:1905274]; regulation of synaptic plasticity [GO:0048167]; response to bacterium [GO:0009617]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=IRSp53(L); IsoId=Q9UQB8-1; Sequence=Displayed; Name=2; IsoId=Q9UQB8-2; Sequence=VSP_015506; Name=3; IsoId=Q9UQB8-3; Sequence=VSP_015505; Name=4; Synonyms=BAIAP2-alpha; IsoId=Q9UQB8-4; Sequence=VSP_015503; Name=5; Synonyms=BAIAP2-beta; IsoId=Q9UQB8-5; Sequence=VSP_015504; Name=6; IsoId=Q9UQB8-6; Sequence=VSP_015502, VSP_015503; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Cytoplasm, cytoskeleton. Note=Detected throughout the cytoplasm in the absence of specific binding partners. Detected in filopodia and close to membrane ruffles. Recruited to actin pedestals that are formed upon infection by bacteria at bacterial attachment sites.


uniprotID: Q16611
geneSymbol: BAK1
reactome: R-HSA-111452;R-HSA-111457;
name: Bcl-2 homologous antagonist/killer (Apoptosis regulator BAK) (Bcl-2-like protein 7) (Bcl2-L-7)
length: 211
go: ENSG00000030110;
snps: rs4987115 rs1051911 rs5745592
pdb:
1BXL;2IMS;2IMT;2JBY;2JCN;2LP8;2M5B;2XPX;2YV6;3I1H;3QBR;4D2L;4U2U;4U2V;4UF1;5AJK;5FMI;5FMK;5VWV;5VWW;5VWX;5VWY;5VWZ;5VX0;5VX1;

sequence:

opentargets:
BAK complex [GO:0097145]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; integral component of mitochondrial outer membrane [GO:0031307]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; pore complex [GO:0046930]; BH domain binding [GO:0051400]; chaperone binding [GO:0051087]; heat shock protein binding [GO:0031072]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; activation of cysteine-type endopeptidase activity [GO:0097202]; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c [GO:0008635]; aging [GO:0007568]; animal organ regeneration [GO:0031100]; apoptotic process [GO:0006915]; apoptotic process involved in blood vessel morphogenesis [GO:1902262]; apoptotic signaling pathway [GO:0097190]; B cell apoptotic process [GO:0001783]; B cell homeostasis [GO:0001782]; B cell negative selection [GO:0002352]; blood vessel remodeling [GO:0001974]; brain development [GO:0007420]; cell proliferation [GO:0008283]; cellular response to mechanical stimulus [GO:0071260]; cellular response to unfolded protein [GO:0034620]; cellular response to UV [GO:0034644]; endocrine pancreas development [GO:0031018]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; establishment or maintenance of transmembrane electrochemical gradient [GO:0010248]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; fibroblast apoptotic process [GO:0044346]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; limb morphogenesis [GO:0035108]; mitochondrial fusion [GO:0008053]; myeloid cell homeostasis [GO:0002262]; negative regulation of cell proliferation [GO:0008285]; negative regulation of endoplasmic reticulum calcium ion concentration [GO:0032471]; negative regulation of gene expression [GO:0010629]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; positive regulation of apoptotic process [GO:0043065]; positive regulation of calcium ion transport into cytosol [GO:0010524]; positive regulation of endoplasmic reticulum unfolded protein response [GO:1900103]; positive regulation of IRE1-mediated unfolded protein response [GO:1903896]; positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901030]; positive regulation of proteolysis [GO:0045862]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; post-embryonic camera-type eye morphogenesis [GO:0048597]; regulation of cell cycle [GO:0051726]; regulation of mitochondrial membrane permeability [GO:0046902]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of protein heterodimerization activity [GO:0043497]; regulation of protein homodimerization activity [GO:0043496]; release of cytochrome c from mitochondria [GO:0001836]; response to ethanol [GO:0045471]; response to fungus [GO:0009620]; response to gamma radiation [GO:0010332]; response to hydrogen peroxide [GO:0042542]; response to mycotoxin [GO:0010046]; response to organic cyclic compound [GO:0014070]; response to UV-C [GO:0010225]; thymocyte apoptotic process [GO:0070242]; vagina development [GO:0060068]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16611-1; Sequence=Displayed; Name=2; IsoId=Q16611-2; Sequence=VSP_056551, VSP_056552; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:29531808}; Single-pass membrane protein {ECO:0000255}.


uniprotID: Q13145
geneSymbol: BAMBI
reactome: R-HSA-2173788;
length: 260
go: ENSG00000095739;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
BMP and activin membrane-bound inhibitor homolog (Non-metastatic gene A protein) (Putative transmembrane protein NMA)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; frizzled binding [GO:0005109]; type II transforming growth factor beta receptor binding [GO:0005114]; cell migration [GO:0016477]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of protein binding [GO:0032092]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell shape [GO:0008360]


uniprotID: Q9Y2V2
geneSymbol: CARHSP1
pdb: 3AQQ;
length: 147
go: ENSG00000153048;
name:
Calcium-regulated heat-stable protein 1 (Calcium-regulated heat-stable protein of 24 kDa) (CRHSP-24)

sequence:
MSSEPPPPPQPPTHQASVGLLDTPRSRERSPSPLRGNVVPSPLPTRRTRTFSATVRASQGPVYKGVCKCFCRSKGHGFITPADGGPDIFLHISDVEGEYVPVEGDEVTYKMCSIPPKNEKLQAVEVVITHLAPGTKHETWSGHVISS

opentargets:
cytoplasm [GO:0005737]; cytoplasmic exosome (RNase complex) [GO:0000177]; cytosol [GO:0005829]; P granule [GO:0043186]; P-body [GO:0000932]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; mRNA 3'-UTR binding [GO:0003730]; phosphatase binding [GO:0019902]; intracellular signal transduction [GO:0035556]; regulation of mRNA stability [GO:0043488]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21177848}. Cytoplasm, P-body {ECO:0000269|PubMed:21177848}. Cytoplasmic granule {ECO:0000269|PubMed:21177848}. Note=Detected at cytoplasmic stress granules and P-bodies. Detected at exosome granules where mRNA is degraded (By similarity). {ECO:0000250}.


uniprotID: Q9Y3Y2
geneSymbol: CHTOP
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72187;
length: 248
go: ENSG00000160679;
name:
Chromatin target of PRMT1 protein (Friend of PRMT1 protein) (Small arginine- and glycine-rich protein) (SRAG)

sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; transcription export complex [GO:0000346]; methyl-CpG binding [GO:0008327]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; positive regulation of ATPase activity [GO:0032781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of helicase activity [GO:0051096]; positive regulation of histone methylation [GO:0031062]; RNA export from nucleus [GO:0006405]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y3Y2-1; Sequence=Displayed; Name=2; IsoId=Q9Y3Y2-3; Sequence=VSP_017277; Note=No experimental confirmation available.; Name=3; Synonyms=SRAG-5; IsoId=Q9Y3Y2-4; Sequence=VSP_040496; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19254951}. Nucleus, nucleolus {ECO:0000269|PubMed:19254951}. Nucleus, nucleoplasm {ECO:0000269|PubMed:23826332}. Nucleus speckle {ECO:0000269|PubMed:23299939, ECO:0000269|PubMed:23826332}. Note=Mostly associated with facultative heterochromatin (By similarity). Localizes to regions surrounding nuclear speckles known as perispeckles in which TREX complex assembly seems to occur (PubMed:23826332). {ECO:0000250|UniProtKB:Q9CY57, ECO:0000269|PubMed:23826332}.


uniprotID: Q9BZE3
geneSymbol: BARHL1
name: BarH-like 1 homeobox protein
length: 327
go: ENSG00000125492;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; animal organ development [GO:0048513]; midbrain development [GO:0030901]; negative regulation of neuron apoptotic process [GO:0043524]; nervous system development [GO:0007399]; neuron migration [GO:0001764]; regulation of transcription by RNA polymerase II [GO:0006357]; sensory perception of sound [GO:0007605]; tissue development [GO:0009888]


uniprotID: Q9NY43
geneSymbol: BARHL2
name: BarH-like 2 homeobox protein
length: 387
go: ENSG00000143032;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; animal organ development [GO:0048513]; cell fate determination [GO:0001709]; nervous system development [GO:0007399]; neuron differentiation [GO:0030182]; neuron migration [GO:0001764]; positive regulation of translation [GO:0045727]; regulation of axon extension [GO:0030516]; regulation of transcription by RNA polymerase II [GO:0006357]; tissue development [GO:0009888]


uniprotID: P35613
geneSymbol: BSG
reactome: R-HSA-1474228;R-HSA-210991;R-HSA-216083;R-HSA-433692;R-HSA-70268;
pdb: 3B5H;3I84;3I85;3QQN;3QR2;4U0Q;5X0T;5XF0;
length: 385
go: ENSG00000172270;
snps: rs104894669 rs1803203
name:
Basigin (5F7) (Collagenase stimulatory factor) (Extracellular matrix metalloproteinase inducer) (EMMPRIN) (Leukocyte activation antigen M6) (OK blood group antigen) (Tumor cell-derived collagenase stimulatory factor) (TCSF) (CD antigen CD147)

sequence:

opentargets:
acrosomal membrane [GO:0002080]; axon [GO:0030424]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; melanosome [GO:0042470]; membrane [GO:0016020]; membrane raft [GO:0045121]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; cadherin binding [GO:0045296]; cell-cell adhesion mediator activity [GO:0098632]; mannose binding [GO:0005537]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; axon guidance [GO:0007411]; cell surface receptor signaling pathway [GO:0007166]; decidualization [GO:0046697]; dendrite self-avoidance [GO:0070593]; embryo implantation [GO:0007566]; extracellular matrix disassembly [GO:0022617]; extracellular matrix organization [GO:0030198]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; leukocyte migration [GO:0050900]; odontogenesis of dentin-containing tooth [GO:0042475]; protein localization to plasma membrane [GO:0072659]; pyruvate metabolic process [GO:0006090]; response to cAMP [GO:0051591]; response to mercury ion [GO:0046689]; response to peptide hormone [GO:0043434]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long, Basigin-2; IsoId=P35613-1; Sequence=Displayed; Name=2; Synonyms=Basigin-1; IsoId=P35613-2; Sequence=VSP_011501; Name=3; Synonyms=Basigin-3; IsoId=P35613-3; Sequence=VSP_043225; Note=Produced by alternative promoter usage. N-glycosylated.; Name=4; Synonyms=Basigin-4; IsoId=P35613-4; Sequence=VSP_043226, VSP_043227; Note=Produced by alternative promoter usage. N-glycosylated.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15946952, ECO:0000269|PubMed:17127621, ECO:0000269|PubMed:21536654}; Single-pass type I membrane protein {ECO:0000303|PubMed:15946952}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In spermatozoa, localized on the principal piece of caput and in the middle piece during transit in the corpus and cauda epididymides (By similarity). {ECO:0000250|UniProtKB:P18572, ECO:0000269|PubMed:17081065}.


uniprotID: P80723
geneSymbol: BASP1
length: 227
go: ENSG00000176788;
snps: rs3733748
name:
Brain acid soluble protein 1 (22 kDa neuronal tissue-enriched acidic protein) (Neuronal axonal membrane protein NAP-22)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; growth cone [GO:0030426]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; protein domain specific binding [GO:0019904]; transcription corepressor activity [GO:0003714]; transcription regulatory region DNA binding [GO:0044212]; diaphragm development [GO:0060539]; glomerular visceral epithelial cell differentiation [GO:0072112]; gonad development [GO:0008406]; mesenchymal to epithelial transition [GO:0060231]; metanephric mesenchyme development [GO:0072075]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of heart growth [GO:0060421]; positive regulation of metanephric ureteric bud development [GO:2001076]; substantia nigra development [GO:0021762]; thorax and anterior abdomen determination [GO:0007356]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P80723-1; Sequence=Displayed; Name=2; IsoId=P80723-2; Sequence=VSP_037994; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor. Cell projection, growth cone. Note=Associated with the membranes of growth cones that form the tips of elongating axons.


uniprotID: Q9NR55
geneSymbol: BATF3
length: 127
go: ENSG00000123685;
snps: rs2202683
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:12087103}.
name:
Basic leucine zipper transcriptional factor ATF-like 3 (B-ATF-3) (21 kDa small nuclear factor isolated from T-cells) (Jun dimerization protein p21SNFT)

sequence:
MSQGLPAAGSVLQRSVAAPGNQPQPQPQQQSPEDDDRKVRRREKNRVAAQRSRKKQTQKADKLHEEYESLEQENTMLRREIGKLTEELKHLTEALKEHEKMCPLLLCPMNFVPVPPRPDPVAGCLPR

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription corepressor activity [GO:0003714]; dendritic cell differentiation [GO:0097028]; myeloid dendritic cell differentiation [GO:0043011]; negative regulation of transcription by RNA polymerase II [GO:0000122]; response to virus [GO:0009615]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q16520
geneSymbol: BATF
reactome: R-HSA-6785807;
length: 125
go: ENSG00000156127;
name:
Basic leucine zipper transcriptional factor ATF-like (B-cell-activating transcription factor) (B-ATF) (SF-HT-activated gene 2 protein) (SFA-2)

sequence:
MPHSSDSSDSSFSRSPPPGKQDSSDDVRRVQRREKNRIAAQKSRQRQTQKADTLHLESEDLEKQNAALRKEIKQLTEELKYFTSVLNSHEPLCSVLAASTPSPPEVVYSAHAFHQPHVSSPRFQP

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; cellular response to DNA damage stimulus [GO:0006974]; cytokine production [GO:0001816]; cytokine-mediated signaling pathway [GO:0019221]; defense response to protozoan [GO:0042832]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; hematopoietic stem cell differentiation [GO:0060218]; isotype switching [GO:0045190]; lymphoid progenitor cell differentiation [GO:0002320]; myeloid dendritic cell differentiation [GO:0043011]; T-helper 17 cell differentiation [GO:0072539]; T-helper 17 cell lineage commitment [GO:0072540]; T-helper 2 cell differentiation [GO:0045064]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978}. Cytoplasm {ECO:0000250}. Note=Present in the nucleus and cytoplasm, but shows increased nuclear translocation after activation of T-cells. {ECO:0000250}.


uniprotID: Q07812
geneSymbol: BAX
reactome: R-HSA-111457;R-HSA-114294;R-HSA-6803204;R-HSA-6804114;R-HSA-8878166;R-HSA-9603505;
name: Apoptosis regulator BAX (Bcl-2-like protein 4) (Bcl2-L-4)
length: 192
go: ENSG00000087088;
snps: rs555248599 rs36017265 rs398122513
pdb:
1F16;2G5B;2K7W;2LR1;3PK1;3PL7;4BD2;4BD6;4BD7;4BD8;4BDU;4S0O;4S0P;4UF2;4ZIE;4ZIF;4ZIG;4ZIH;4ZII;5W5X;5W5Z;5W60;5W61;

sequence:
MDGSGEQPRGGGPTSSEQIMKTGALLLQGFIQDRAGRMGGEAPELALDPVPQDASTKKLSECLKRIGDELDSNMELQRMIAAVDTDSPREVFFRVAADMFSDGNFNWGRVVALFYFASKLVLKALCTKVPELIRTIMGWTLDFLRERLLGWIQDQGGWDGLLSYFGTPTWQTVTIFVAGVLTASLTIWKKMG

opentargets:
BAX complex [GO:0097144]; Bcl-2 family protein complex [GO:0097136]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrial permeability transition pore complex [GO:0005757]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; pore complex [GO:0046930]; BH3 domain binding [GO:0051434]; channel activity [GO:0015267]; chaperone binding [GO:0051087]; Hsp70 protein binding [GO:0030544]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c [GO:0008635]; activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097296]; apoptotic mitochondrial changes [GO:0008637]; apoptotic process [GO:0006915]; apoptotic process involved in blood vessel morphogenesis [GO:1902262]; apoptotic process involved in embryonic digit morphogenesis [GO:1902263]; apoptotic signaling pathway [GO:0097190]; B cell apoptotic process [GO:0001783]; B cell homeostasis [GO:0001782]; B cell homeostatic proliferation [GO:0002358]; B cell negative selection [GO:0002352]; B cell receptor apoptotic signaling pathway [GO:1990117]; blood vessel remodeling [GO:0001974]; cellular response to unfolded protein [GO:0034620]; cellular response to UV [GO:0034644]; cerebral cortex development [GO:0021987]; development of secondary sexual characteristics [GO:0045136]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; ectopic germ cell programmed cell death [GO:0035234]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; establishment or maintenance of transmembrane electrochemical gradient [GO:0010248]; extrinsic apoptotic signaling pathway [GO:0097191]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; fertilization [GO:0009566]; germ cell development [GO:0007281]; glycosphingolipid metabolic process [GO:0006687]; homeostasis of number of cells within a tissue [GO:0048873]; hypothalamus development [GO:0021854]; intrinsic apoptotic signaling pathway [GO:0097193]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; kidney development [GO:0001822]; mitochondrial fragmentation involved in apoptotic process [GO:0043653]; mitochondrial fusion [GO:0008053]; mitochondrion morphogenesis [GO:0070584]; myeloid cell homeostasis [GO:0002262]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of endoplasmic reticulum calcium ion concentration [GO:0032471]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of protein binding [GO:0032091]; neuron apoptotic process [GO:0051402]; neuron migration [GO:0001764]; odontogenesis of dentin-containing tooth [GO:0042475]; ovarian follicle development [GO:0001541]; positive regulation of apoptotic DNA fragmentation [GO:1902512]; positive regulation of apoptotic process [GO:0043065]; positive regulation of apoptotic process involved in mammary gland involution [GO:0060058]; positive regulation of B cell apoptotic process [GO:0002904]; positive regulation of developmental pigmentation [GO:0048087]; positive regulation of endoplasmic reticulum unfolded protein response [GO:1900103]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of IRE1-mediated unfolded protein response [GO:1903896]; positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901030]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of protein oligomerization [GO:0032461]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; post-embryonic camera-type eye morphogenesis [GO:0048597]; protein complex oligomerization [GO:0051259]; protein homooligomerization [GO:0051260]; protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:0001844]; regulation of apoptotic process [GO:0042981]; regulation of mammary gland epithelial cell proliferation [GO:0033599]; regulation of mitochondrial membrane permeability involved in programmed necrotic cell death [GO:1902445]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of nitrogen utilization [GO:0006808]; regulation of protein heterodimerization activity [GO:0043497]; regulation of protein homodimerization activity [GO:0043496]; release of cytochrome c from mitochondria [GO:0001836]; release of matrix enzymes from mitochondria [GO:0032976]; response to axon injury [GO:0048678]; response to gamma radiation [GO:0010332]; response to salt stress [GO:0009651]; response to toxic substance [GO:0009636]; retina development in camera-type eye [GO:0060041]; retinal cell programmed cell death [GO:0046666]; Sertoli cell proliferation [GO:0060011]; spermatid differentiation [GO:0048515]; T cell homeostatic proliferation [GO:0001777]; thymocyte apoptotic process [GO:0070242]; transcription initiation from RNA polymerase II promoter [GO:0006367]; vagina development [GO:0060068]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=Alpha; IsoId=Q07812-1; Sequence=Displayed; Name=Beta; IsoId=Q07812-2, Q07814-1; Sequence=VSP_031237; Name=Gamma; IsoId=Q07812-3, Q07815-1; Sequence=VSP_031234, VSP_031236; Name=Delta; IsoId=Q07812-4, P55269-1; Sequence=VSP_031235; Name=Epsilon; IsoId=Q07812-5; Sequence=VSP_031240; Name=Zeta; IsoId=Q07812-6; Sequence=VSP_031239; Name=Psi; IsoId=Q07812-7; Sequence=VSP_031238; Name=Sigma; IsoId=Q07812-8; Sequence=VSP_037475; 

location:
SUBCELLULAR LOCATION: Isoform Alpha: Mitochondrion outer membrane {ECO:0000269|PubMed:29531808}; Single-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:27558414, ECO:0000269|PubMed:29531808}. Note=Colocalizes with 14-3-3 proteins in the cytoplasm. Under stress conditions, undergoes a conformation change that causes release from JNK-phosphorylated 14-3-3 proteins and translocation to the mitochondrion membrane.; SUBCELLULAR LOCATION: Isoform Beta: Cytoplasm.; SUBCELLULAR LOCATION: Isoform Gamma: Cytoplasm.; SUBCELLULAR LOCATION: Isoform Delta: Cytoplasm {ECO:0000305}.


uniprotID: Q9H2J1
geneSymbol: ARRDC1-AS1
name: Uncharacterized protein ARRDC1-AS1 (ARRDC1 antisense RNA 1) (ARRDC1 antisense gene protein 1)
length: 176
sequence:
MEFHYVAQADLELLTSSNPPASASQSTGITGGSHRARPGPVHFIDKVTDKPSHSHPFALKENWNLNPEPSSPPSPLFLEAPSRQASQHHGASPGAGTSAGCPFEKCCSTEPCLSGLGDVGRGEAASLRARPGSGASRGQGPGSRVSCRRDLGKPLHAPAGFSAGEVHTTPLGNLGA

opentargets:
NLRP3 inflammasome complex [GO:0072559]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylserine binding [GO:0001786]; pyroptosis [GO:0070269]


uniprotID: Q9UIG0
geneSymbol: BAZ1B
reactome: R-HSA-5250924;R-HSA-5693565;
pdb: 1F62;5NNF;
length: 1483
go: ENSG00000009954;
name:
Tyrosine-protein kinase BAZ1B (EC 2.7.10.2) (Bromodomain adjacent to zinc finger domain protein 1B) (Williams syndrome transcription factor) (Williams-Beuren syndrome chromosomal region 10 protein) (Williams-Beuren syndrome chromosomal region 9 protein) (hWALp2)

sequence:

opentargets:
condensed chromosome [GO:0000793]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; pericentric heterochromatin [GO:0005721]; ATP binding [GO:0005524]; histone binding [GO:0042393]; histone kinase activity [GO:0035173]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein tyrosine kinase activity [GO:0004713]; zinc ion binding [GO:0008270]; cellular response to DNA damage stimulus [GO:0006974]; chromatin assembly or disassembly [GO:0006333]; chromatin remodeling [GO:0006338]; histone phosphorylation [GO:0016572]; positive regulation of gene expression, epigenetic [GO:0045815]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UIG0-1; Sequence=Displayed; Name=2; IsoId=Q9UIG0-2; Sequence=VSP_000552; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00063, ECO:0000255|PROSITE-ProRule:PRU00475, ECO:0000269|PubMed:11980720, ECO:0000269|PubMed:15543136}. Note=Accumulates in pericentromeric heterochromatin during replication. Targeted to replication foci throughout S phase via its association with PCNA.


uniprotID: Q96LT7
geneSymbol: C9orf72
name: Guanine nucleotide exchange C9orf72
length: 481
go: ENSG00000147894;
snps: rs17769294
sequence:

opentargets:
autophagosome [GO:0005776]; axonal growth cone [GO:0044295]; cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; dendrite [GO:0030425]; endosome [GO:0005768]; extracellular space [GO:0005615]; guanyl-nucleotide exchange factor complex [GO:0032045]; lysosome [GO:0005764]; main axon [GO:0044304]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; P-body [GO:0000932]; perikaryon [GO:0043204]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rab GTPase binding [GO:0017137]; autophagy [GO:0006914]; axon extension [GO:0048675]; endocytosis [GO:0006897]; late endosome to lysosome transport [GO:1902774]; negative regulation of GTP binding [GO:1904425]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of macroautophagy [GO:0016239]; regulation of actin filament organization [GO:0110053]; regulation of autophagosome assembly [GO:2000785]; regulation of autophagy [GO:0010506]; regulation of TORC1 signaling [GO:1903432]; stress granule assembly [GO:0034063]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=C9-L {ECO:0000303|PubMed:26174152}, C9(LF) {ECO:0000303|PubMed:27037575}; IsoId=Q96LT7-1; Sequence=Displayed; Note=Encoded by 2 transcripts differing in the 5' non-coding region.; Name=2; Synonyms=C9-S {ECO:0000303|PubMed:26174152}, C9(SF) {ECO:0000303|PubMed:27037575}; IsoId=Q96LT7-2; Sequence=VSP_014745, VSP_014746; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21944779, ECO:0000269|PubMed:27037575}. Cytoplasm {ECO:0000269|PubMed:21944778, ECO:0000269|PubMed:27037575, ECO:0000269|PubMed:27193190}. Cytoplasm, P-body {ECO:0000269|PubMed:27037575}. Cytoplasm, Stress granule {ECO:0000269|PubMed:27037575}. Endosome {ECO:0000269|PubMed:24549040}. Lysosome {ECO:0000269|PubMed:24549040, ECO:0000269|PubMed:27559131}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:24549040}. Secreted {ECO:0000269|PubMed:24549040}. Cell projection, axon {ECO:0000269|PubMed:27723745}. Cell projection, growth cone {ECO:0000269|PubMed:27723745}. Perikaryon {ECO:0000250|UniProtKB:Q6DFW0}. Note=Detected in the cytoplasm of neurons from brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779). During corticogenesis, transitions from being predominantly cytoplasmic to a more even nucleocytoplasmic distribution (By similarity). {ECO:0000250|UniProtKB:Q6DFW0, ECO:0000269|PubMed:21944778, ECO:0000269|PubMed:21944779, ECO:0000269|PubMed:27037575}.; SUBCELLULAR LOCATION: Isoform 1: Perikaryon {ECO:0000269|PubMed:26174152}. Cell projection, dendrite {ECO:0000269|PubMed:26174152}. Note=Expressed diffusely throughout the cytoplasm and dendritic processes of cerebellar Purkinje cells. Also expressed diffusely throughout the cytoplasm of spinal motor neurons. {ECO:0000269|PubMed:26174152}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus membrane {ECO:0000269|PubMed:26174152}; Peripheral membrane protein {ECO:0000305}. Nucleus {ECO:0000269|PubMed:26174152}. Note=Detected at the nuclear membrane of cerebellar Purkinje cells and spinal motor neurons. Also shows diffuse nuclear expression in spinal motor neurons. {ECO:0000269|PubMed:26174152}.


uniprotID: Q9UIF8
geneSymbol: BAZ2B
name: Bromodomain adjacent to zinc finger domain protein 2B (hWALp4)
length: 2168
go: ENSG00000123636;
snps: rs10202670 rs3213790 rs3732287 rs2302924 rs415793
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00063}.
pdb:
2E7O;3G0L;3Q2F;4CUP;4CUQ;4CUR;4CUS;4CUT;4CUU;4IR3;4IR4;4IR5;4IR6;4NR9;4NRA;4NRB;4NRC;4QC1;4QC3;4QF3;4RVR;4XUA;4XUB;5CQ3;5CQ4;5CQ5;5CQ6;5CQ7;5CQ8;5CQA;5CU8;5CUA;5CUB;5CUC;5CUD;5CUE;5CUG;5DYU;5DYX;5E73;5E74;5E9I;5E9K;5E9L;5E9M;5E9Y;5L8T;5L8U;5L96;5L97;5L98;5L99;5MGE;5MGF;5MGG;5OR9;5ORB;5PB7;5PB8;5PB9;5PBA;5PBB;5PBC;5PBD;5PBE;5PBF;5PBG;5PBH;5PBI;5PBJ;5PBK;5PBL;5PBM;5PBN;5PBO;5PBP;5PBQ;5PBR;5PBS;5PBT;5PBU;5PBV;5PBW;5PBX;5PBY;5PBZ;5PC0;5PC1;5PC2;5PC3;5PC4;5PC5;5PC6;5PC7;5PC8;5PC9;5PCA;5PCB;5PCC;5PCD;5PCE;5PCF;5PCG;5PCH;5PCI;5PCJ;5PCK;5PCL;5PCM;5PCN;5PCO;5PCP;5PCQ;5PCR;5PCS;5PCT;5PCU;5PCV;5PCW;5PCX;5PCZ;5PD0;5PD1;5PD2;5PD3;5PD4;5PD5;5PD6;5PD7;5PD8;5PD9;5PDA;5PDB;5PDC;5PDD;5PDE;5PDF;5PDG;5PDH;5PDI;5PDJ;5PDK;5PDL;5PDM;5PDN;5PDO;5PDP;5PDQ;5PDR;5PDS;5PDT;5PDU;5PDV;5PDW;5PDX;5PDY;5PDZ;5PE0;5PE1;5PE2;5PE3;5PE4;5PE5;5PE6;5PE7;5PE8;5PE9;5PEA;5PEB;5PEC;5PED;5PEE;5PEF;5PEG;5PEH;5PEI;5PEJ;5PEK;5PEL;5PEM;5PEN;5PEO;5PEQ;5PER;5PES;5PET;5PEU;5PEV;5PEW;5PEX;5PEY;5PEZ;5PF0;5PF1;5PF2;5PF3;5PF4;5PF5;5PF6;5PF7;5PF8;5PF9;5PFA;5PFB;5PFC;5PFD;5PFE;5PFF;5PFG;5PFH;5PFI;5PFJ;5PFL;5PFM;5PFN;5PFO;5PFP;5PFQ;5PFR;5PFS;5PFT;5PFU;5PFV;5PFW;5PFX;5PFY;5PFZ;5PG0;5PG1;5PG2;5PG3;5PG4;5PG5;5PG6;5PG7;5PG8;5PG9;5PGA;5PGB;5PGC;5PGD;5PGE;5PGF;5PGG;5PGH;5PGI;5PGJ;5PGK;5PGL;5PGN;5PGO;5PGP;5PGQ;5PGR;5PGS;5PGT;6FGT;6FGU;6FH6;6FH7;6FHQ;6FI1;

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; chromatin remodeling [GO:0006338]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9UIF8-1; Sequence=Displayed; Name=2; IsoId=Q9UIF8-2; Sequence=VSP_037115, VSP_000553; Name=3; IsoId=Q9UIF8-3; Sequence=VSP_000554; Name=4; IsoId=Q9UIF8-4; Sequence=VSP_037114; Name=5; IsoId=Q9UIF8-5; Sequence=VSP_037115, VSP_000554; 


uniprotID: A6NGG3
geneSymbol: C9orf92
name: Putative uncharacterized protein C9orf92
sequence: MARFQRTKEREEDRCSLNIYYVRNTTQGTAPACVGKRMQPSPTGKGGKCCTVHGLTRKIHNVQPNLQSPILSAACVD
length: 77
go: ENSG00000205549;
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NGG3-1; Sequence=Displayed; Name=2; IsoId=A6NGG3-2; Sequence=VSP_030775; Note=No experimental confirmation available.; 


uniprotID: Q8NAJ2
geneSymbol: C9orf106
name: Putative uncharacterized protein C9orf106
length: 232
sequence:


uniprotID: A8MTZ0
geneSymbol: BBIP1
reactome: R-HSA-5620922;
name: BBSome-interacting protein 1 (BBSome-interacting protein of 10 kDa)
sequence: MLKAAAKRPELSGKNTISNNSDMAEVKSMFREVLPKQGPLFVEDIMTMVLCKPKLLPLKSLTLEKLEKMHQAAQNTIRQQEMAEKDQRQITH
length: 92
go: ENSG00000214413;
opentargets:
BBSome [GO:0034464]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; cilium assembly [GO:0060271]; protein transport [GO:0015031]; receptor localization to non-motile cilium [GO:0097500]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A8MTZ0-1; Sequence=Displayed; Name=2; IsoId=A8MTZ0-2; Sequence=VSP_045981; Note=No experimental confirmation available.; Name=3; IsoId=A8MTZ0-3; Sequence=VSP_046434; Note=No experimental confirmation available.; Name=4; IsoId=A8MTZ0-4; Sequence=VSP_046433; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|Ref.4}. Cytoplasm {ECO:0000269|Ref.4}. Note=Localizes inside the primary cilium but not at centriolar satellites.


uniprotID: Q5BN46
geneSymbol: C9orf116
name: UPF0691 protein C9orf116 (p53-induced expression in RB-null cells protein 1) (Pierce1)
length: 136
go: ENSG00000160345;
sequence:
MAEECPRACAEPVAPKATAPPERTSDYYRVSADLPGRFNNPGWFRGYRTQKAVSVYRTSNQAYGSRAPTVHEMPKVFYPNSNKFSQQLAAGGMFRNNTLNVYLEKSIVTGPDNCITSCDRLNFHPSYNINRPSICD

opentargets:
nucleus [GO:0005634]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to UV-C [GO:0071494]; determination of left/right symmetry [GO:0007368]; regulation of gene expression [GO:0010468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5BN46-1; Sequence=Displayed; Name=2; IsoId=Q5BN46-2; Sequence=VSP_014466, VSP_014467; 


uniprotID: Q5VTT2
geneSymbol: C9orf135
name: Protein C9orf135
length: 229
go: ENSG00000204711;
opentargets: cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VTT2-1; Sequence=Displayed; Name=2; IsoId=Q5VTT2-2; Sequence=VSP_056887; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28345668}; Single-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:28345668}.


uniprotID: Q6ZV77
geneSymbol: C9orf139
name: Uncharacterized protein C9orf139
length: 190
snps: rs12337910
sequence:
MALRGHPEPQPTNTPLSATVGGPISLFTQPRCHSAARDLVWSQAWPDPDVLEISMQTPGGSSCRKEAVLPRLRVTRPLVPEPAILPVCAARLAGSLATDLSRSHSLLPPWVDLKEPPPPSAPSLLLEDPGQGGCHGAQSCVGTCELANGARGFCPEMGQNESLSEERKGHESKRKSGGRGSPSSHPTQAS


uniprotID: Q5JTZ5
geneSymbol: C9orf152
name: Uncharacterized protein C9orf152
length: 239
go: ENSG00000188959;
sequence:


uniprotID: Q5TBE3
geneSymbol: C9orf153
name: Uncharacterized protein C9orf153
length: 101
go: ENSG00000187753;
sequence:
MFLTGDTSPAEDNREATLPQCSLPELYACIENFNKESKKSNLLKMHGISLNEAQEVLARNLNVMSFTRGADVRGDLQPVISVNKMNKPGKHRKTPSPKINK

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TBE3-1; Sequence=Displayed; Note=No experimental confirmation available. Derived from EST data.; Name=2; IsoId=Q5TBE3-2; Sequence=VSP_017734; 


uniprotID: Q8N9P6
geneSymbol: C9orf163
name: Uncharacterized protein C9orf163
length: 203
snps: rs34376913
sequence:


uniprotID: A2RU37
geneSymbol: C9orf170
name: Uncharacterized protein C9orf170
length: 121
sequence:
MWSRRGLGVSRAPLHLLLGVWGPSGRTGGQRKGASLARPGRGGLASCSVGANGKRDVLFLRKTLTNTVEDIQIDNFRRKSDLGVGSPDWKNLLIDVTREDHENSQNNSKRRCKVNCETDQR


uniprotID: Q9Y3D0
geneSymbol: CIAO2B
reactome: R-HSA-2564830;
length: 163
go: ENSG00000166595;
name:
Cytosolic iron-sulfur assembly component 2B (MSS19-interacting protein of 18 kDa) (Mitotic spindle-associated MMXD complex subunit MIP18) (Protein FAM96B)

sequence:
MVGGGGVGGGLLENANPLIYQRSGERPVTAGEEDEQVPDSIDAREIFDLIRSINDPEHPLTLEELNVVEQVRVQVSDPESTVAVAFTPTIPHCSMATLIGLSIKVKLLRSLPQRFKMDVHITPGTHASEHAVNKQLADKERVAAALENTHLLEVVNQCLSARS

opentargets:
CIA complex [GO:0097361]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; MMXD complex [GO:0071817]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle [GO:0005819]; chromosome segregation [GO:0007059]; iron-sulfur cluster assembly [GO:0016226]; protein maturation by iron-sulfur cluster transfer [GO:0097428]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20797633}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:20797633}.


uniprotID: Q8TAM1
geneSymbol: BBS10
reactome: R-HSA-5620922;
name: Bardet-Biedl syndrome 10 protein
length: 723
go: ENSG00000179941;
sequence:

opentargets:
cilium [GO:0005929]; ATP binding [GO:0005524]; RNA polymerase II repressing transcription factor binding [GO:0001103]; chaperone-mediated protein complex assembly [GO:0051131]; non-motile cilium assembly [GO:1905515]; photoreceptor cell maintenance [GO:0045494]; regulation of protein complex assembly [GO:0043254]; response to stimulus [GO:0050896]; retina homeostasis [GO:0001895]; visual perception [GO:0007601]

snps:
rs137852838 rs137852836 rs768933093 rs148374859 rs142863601 rs780916348 rs756632517 rs139658279 rs150587582 rs137852837 rs1000990130 rs938066133 rs11109474 rs786204575 rs35676114 rs141521925 rs575957641 rs141647931 rs113224628 rs759387000 rs769179905 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:19190184}. Note=Located within the basal body of the primary cilium of differentiating preadipocytes. {ECO:0000269|PubMed:19190184}.


uniprotID: Q9Y375
geneSymbol: NDUFAF1
reactome: R-HSA-6799198;
length: 327
go: ENSG00000137806;
snps: rs1899 rs3204853 rs35227875 rs12900702
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
name:
Complex I intermediate-associated protein 30, mitochondrial (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; unfolded protein binding [GO:0051082]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; protein-containing complex assembly [GO:0065003]


uniprotID: Q8NFJ9
geneSymbol: BBS1
reactome: R-HSA-5620922;
name: Bardet-Biedl syndrome 1 protein (BBS2-like protein 2)
length: 593
go: ENSG00000174483;ENSG00000256349;
sequence:

opentargets:
axoneme [GO:0005930]; BBSome [GO:0034464]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary membrane [GO:0060170]; cytosol [GO:0005829]; patched binding [GO:0005113]; RNA polymerase II repressing transcription factor binding [GO:0001103]; smoothened binding [GO:0005119]; cilium assembly [GO:0060271]; Golgi to plasma membrane protein transport [GO:0043001]; non-motile cilium assembly [GO:1905515]; photoreceptor cell maintenance [GO:0045494]; protein localization to cilium [GO:0061512]; response to stimulus [GO:0050896]; retina homeostasis [GO:0001895]; sensory perception of smell [GO:0007608]; visual perception [GO:0007601]

snps:
rs775990952 rs766602837 rs200688985 rs376894444 rs146052054 rs35520756 rs151203205 rs942862410 rs113624356 rs778225393 rs121917778 rs544767888 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NFJ9-1; Sequence=Displayed; Name=3; Synonyms=DPP3-BBS1; IsoId=Q8NFJ9-2; Sequence=VSP_008854; Note=Based on a readthrough transcript which may produce a DPP3-BBS1 fusion protein. No experimental confirmation available.; Name=2; IsoId=Q8NFJ9-3; Sequence=VSP_054152, VSP_054153; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.


uniprotID: Q96RK4
geneSymbol: BBS4
reactome: R-HSA-5620922;
name: Bardet-Biedl syndrome 4 protein
length: 519
go: ENSG00000140463;
sequence:

opentargets:
BBSome [GO:0034464]; centriolar satellite [GO:0034451]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary membrane [GO:0060170]; ciliary transition zone [GO:0035869]; cilium [GO:0005929]; cytosol [GO:0005829]; motile cilium [GO:0031514]; non-motile cilium [GO:0097730]; nucleus [GO:0005634]; pericentriolar material [GO:0000242]; photoreceptor connecting cilium [GO:0032391]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; alpha-tubulin binding [GO:0043014]; beta-tubulin binding [GO:0048487]; dynactin binding [GO:0034452]; microtubule motor activity [GO:0003777]; RNA polymerase II repressing transcription factor binding [GO:0001103]; adult behavior [GO:0030534]; brain morphogenesis [GO:0048854]; centrosome cycle [GO:0007098]; cerebral cortex development [GO:0021987]; cilium assembly [GO:0060271]; dendrite development [GO:0016358]; face development [GO:0060324]; fat cell differentiation [GO:0045444]; fat pad development [GO:0060613]; heart looping [GO:0001947]; hippocampus development [GO:0021766]; intracellular transport [GO:0046907]; maintenance of protein location in nucleus [GO:0051457]; melanosome transport [GO:0032402]; microtubule anchoring at centrosome [GO:0034454]; microtubule cytoskeleton organization [GO:0000226]; mitotic cytokinesis [GO:0000281]; negative regulation of actin filament polymerization [GO:0030837]; negative regulation of appetite by leptin-mediated signaling pathway [GO:0038108]; negative regulation of gene expression [GO:0010629]; negative regulation of GTPase activity [GO:0034260]; negative regulation of systemic arterial blood pressure [GO:0003085]; neural tube closure [GO:0001843]; neuron migration [GO:0001764]; non-motile cilium assembly [GO:1905515]; photoreceptor cell maintenance [GO:0045494]; photoreceptor cell outer segment organization [GO:0035845]; positive regulation of cilium assembly [GO:0045724]; positive regulation of multicellular organism growth [GO:0040018]; protein localization to centrosome [GO:0071539]; protein localization to cilium [GO:0061512]; protein localization to organelle [GO:0033365]; protein localization to photoreceptor outer segment [GO:1903546]; protein transport [GO:0015031]; regulation of cilium beat frequency involved in ciliary motility [GO:0060296]; regulation of cytokinesis [GO:0032465]; regulation of lipid metabolic process [GO:0019216]; regulation of non-motile cilium assembly [GO:1902855]; regulation of stress fiber assembly [GO:0051492]; retina homeostasis [GO:0001895]; retinal rod cell development [GO:0046548]; sensory perception of smell [GO:0007608]; sensory processing [GO:0050893]; social behavior [GO:0035176]; spermatid development [GO:0007286]; striatum development [GO:0021756]; ventricular system development [GO:0021591]; visual perception [GO:0007601]

snps:
rs75295839 rs1251827333 rs11638283 rs121434632 rs2277598 rs28938468 rs772548770 rs17852452 rs147202164 rs2277596 rs561284402 rs756419611 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96RK4-1; Sequence=Displayed; Name=2; IsoId=Q96RK4-2; Sequence=VSP_024410; Note=No experimental confirmation available.; Name=3; IsoId=Q96RK4-3; Sequence=VSP_047507; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cell projection, cilium membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000250}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q8C1Z7}. Cell projection, cilium {ECO:0000250|UniProtKB:Q8C1Z7}. Note=Localizes to the pericentriolar material. Centrosomal localization requires dynein (By similarity). Localizes to the connecting cilium of photoreceptor cells (By similarity). {ECO:0000250|UniProtKB:Q8C1Z7}.


uniprotID: O76071
geneSymbol: CIAO1
reactome: R-HSA-2564830;
pdb: 3FM0;
name: Probable cytosolic iron-sulfur protein assembly protein CIAO1 (WD repeat-containing protein 39)
length: 339
go: ENSG00000144021;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23585563}.
sequence:

opentargets:
CIA complex [GO:0097361]; cytoplasm [GO:0005737]; MMXD complex [GO:0071817]; chromosome segregation [GO:0007059]; iron-sulfur cluster assembly [GO:0016226]; positive regulation of cell proliferation [GO:0008284]; protein maturation by iron-sulfur cluster transfer [GO:0097428]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q8IWZ6
geneSymbol: BBS7
reactome: R-HSA-5620922;
name: Bardet-Biedl syndrome 7 protein (BBS2-like protein 1)
length: 715
go: ENSG00000138686;
snps: rs754579374 rs119466002 rs889417696 rs119466001 rs1013002037
sequence:

opentargets:
axoneme [GO:0005930]; BBSome [GO:0034464]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary membrane [GO:0060170]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; photoreceptor outer segment [GO:0001750]; RNA polymerase II repressing transcription factor binding [GO:0001103]; brain development [GO:0007420]; cilium assembly [GO:0060271]; determination of left/right symmetry [GO:0007368]; digestive tract morphogenesis [GO:0048546]; eye development [GO:0001654]; fat cell differentiation [GO:0045444]; heart looping [GO:0001947]; limb development [GO:0060173]; melanosome transport [GO:0032402]; non-motile cilium assembly [GO:1905515]; pigment granule aggregation in cell center [GO:0051877]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; primary palate development [GO:1903929]; protein localization [GO:0008104]; protein transport [GO:0015031]; regulation of transcription by RNA polymerase II [GO:0006357]; smoothened signaling pathway [GO:0007224]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long, lBBS2L1; IsoId=Q8IWZ6-1; Sequence=Displayed; Name=2; Synonyms=Short, sBBS2L1; IsoId=Q8IWZ6-2; Sequence=VSP_008850; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}. Cytoplasm {ECO:0000269|PubMed:22072986}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:22072986}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8K2G4}.


uniprotID: Q9H165
geneSymbol: BCL11A
pdb: 5VTB;
length: 835
go: ENSG00000119866;
snps: rs886037864 rs886037865 rs886037866
name:
B-cell lymphoma/leukemia 11A (BCL-11A) (B-cell CLL/lymphoma 11A) (COUP-TF-interacting protein 1) (Ecotropic viral integration site 9 protein homolog) (EVI-9) (Zinc finger protein 856)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; cellular response to L-glutamate [GO:1905232]; negative regulation of axon extension [GO:0030517]; negative regulation of branching morphogenesis of a nerve [GO:2000173]; negative regulation of collateral sprouting [GO:0048671]; negative regulation of dendrite development [GO:2000171]; negative regulation of dendrite extension [GO:1903860]; negative regulation of neuron projection development [GO:0010977]; negative regulation of neuron remodeling [GO:1904800]; negative regulation of protein homooligomerization [GO:0032463]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of collateral sprouting [GO:0048672]; positive regulation of gene expression [GO:0010628]; positive regulation of neuron projection development [GO:0010976]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein sumoylation [GO:0016925]; regulation of dendrite development [GO:0050773]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=BCL11A-XL, BCL11A eXtra long form; IsoId=Q9H165-1; Sequence=Displayed; Note=Expressed in fetal and adult brain, and in the plasmacytoid dendritic cell. Partitions into the nuclear matrix and colocalizes with BCL6 in nuclear paraspeckles. {ECO:0000269|PubMed:16704730}; Name=2; Synonyms=BCL11A-L, BCL11A long form; IsoId=Q9H165-2; Sequence=VSP_009554, VSP_009555; Note=Predominantly localized in the nucleus in nuclear paraspeckles. {ECO:0000269|PubMed:16704730}; Name=3; Synonyms=BCL11A-S, BCL11A short form; IsoId=Q9H165-3; Sequence=VSP_009550, VSP_009552; Note=Predominantly localized in the cytoplasm in the absence of interaction with isoform 1 and isoform 2. In presence of isoform 1 or isoform 2, translocates from the cytoplasm into nuclear paraspeckles. {ECO:0000269|PubMed:16704730}; Name=6; IsoId=Q9H165-6; Sequence=VSP_009548; Name=7; Synonyms=BCL11A-XS, BCL11A eXtra short form; IsoId=Q9H165-8; Sequence=VSP_058656, VSP_058657; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11161790}. Nucleus {ECO:0000269|PubMed:11161790}. Note=Associates with the nuclear body. Colocalizes with SUMO1 and SENP2 in nuclear speckles (By similarity). {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:27453576}. Nucleus {ECO:0000269|PubMed:27453576}. Note=Predominantly localized in the nucleus in nuclear paraspeckles. {ECO:0000269|PubMed:27453576}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:27453576}. Nucleus {ECO:0000269|PubMed:27453576}. Note=Predominantly localized in the cytoplasm in the absence of interaction with isoform 1 and isoform 2. In presence of isoform 1 or isoform 2, translocates from the cytoplasm into nuclear paraspeckles. {ECO:0000269|PubMed:27453576}.


uniprotID: Q96Q77
geneSymbol: CIB3
name: Calcium and integrin-binding family member 3 (Kinase-interacting protein 3) (KIP 3)
length: 187
go: ENSG00000141977;
opentargets: calcium ion binding [GO:0005509]; magnesium ion binding [GO:0000287]
snps: rs6512087
sequence:
MGNKQTVFTHEQLEAYQDCTFFTRKEIMRLFYRYQDLAPQLVPLDYTTCPDVKVPYELIGSMPELKDNPFRQRIAQVFSEDGDGHMTLDNFLDMFSVMSEMAPRDLKAYYAFKIYDFNNDDYICAWDLEQTVTKLTRGGLSAEEVSLVCEKVLDEADGDHDGRLSLEDFQNMILRAPDFLSTFHIRI

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96Q77-1; Sequence=Displayed; Name=2; IsoId=Q96Q77-2; Sequence=VSP_055509; Note=No experimental confirmation available.; 


uniprotID: A0PJX0
geneSymbol: CIB4
name: Calcium and integrin-binding family member 4
length: 185
go: ENSG00000157884;
opentargets: calcium ion binding [GO:0005509]; magnesium ion binding [GO:0000287]
snps: rs935172
sequence:
MGQCLRYQMHWEDLEEYQALTFLTRNEILCIHDTFLKLCPPGKYYKEATLTMDQVSSLPALRVNPFRDRICRVFSHKGMFSFEDVLGMASVFSEQACPSLKIEYAFRIYDFNENGFIDEEDLQRIILRLLNSDDMSEDLLMDLTNHVLSESDLDNDNMLSFSEFEHAMAKSPDFMNSFRIHFWGC


uniprotID: Q9C0K0
geneSymbol: BCL11B
length: 894
go: ENSG00000127152;
snps: rs749837100 rs750610248
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
B-cell lymphoma/leukemia 11B (BCL-11B) (B-cell CLL/lymphoma 11B) (COUP-TF-interacting protein 2) (Radiation-induced tumor suppressor gene 1 protein) (hRit1)

sequence:

opentargets:
neuron projection [GO:0043005]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; alpha-beta T cell differentiation [GO:0046632]; commitment of neuronal cell to specific neuron type in forebrain [GO:0021902]; epithelial cell morphogenesis [GO:0003382]; hematopoietic stem cell migration [GO:0035701]; keratinocyte development [GO:0003334]; lymphoid lineage cell migration into thymus [GO:0097535]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; odontogenesis of dentin-containing tooth [GO:0042475]; olfactory bulb axon guidance [GO:0071678]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive T cell selection [GO:0043368]; post-embryonic camera-type eye development [GO:0031077]; regulation of keratinocyte proliferation [GO:0010837]; regulation of lipid metabolic process [GO:0019216]; regulation of neuron differentiation [GO:0045664]; regulation of transcription, DNA-templated [GO:0006355]; striatal medium spiny neuron differentiation [GO:0021773]; T cell differentiation in thymus [GO:0033077]; T cell receptor V(D)J recombination [GO:0033153]; thymus development [GO:0048538]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha; IsoId=Q9C0K0-1; Sequence=Displayed; Name=2; IsoId=Q9C0K0-2; Sequence=VSP_009565; Note=May be due to exon skipping. {ECO:0000244|PubMed:25755297, ECO:0000244|PubMed:28112733}; 


uniprotID: Q96RK0
geneSymbol: CIC
pdb: 2M41;4J2J;4J2L;
name: Protein capicua homolog
length: 1608
go: ENSG00000079432;
snps: rs770323488 rs17339472
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; brain development [GO:0007420]; learning [GO:0007612]; lung alveolus development [GO:0048286]; memory [GO:0007613]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; social behavior [GO:0035176]


uniprotID: Q8TDM0
geneSymbol: BCAS4
name: Breast carcinoma-amplified sequence 4
length: 211
go: ENSG00000124243;
opentargets: BLOC-1 complex [GO:0031083]
snps: rs2272962 rs7273412
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TDM0-1; Sequence=Displayed; Name=2; IsoId=Q8TDM0-2; Sequence=VSP_007854, VSP_007855; Name=3; IsoId=Q8TDM0-3; Sequence=VSP_015289, VSP_015290; 


uniprotID: P54687
geneSymbol: BCAT1
reactome: R-HSA-70895;
pdb: 2ABJ;2COG;2COI;2COJ;
name: Branched-chain-amino-acid aminotransferase, cytosolic (BCAT(c)) (EC 2.6.1.42) (Protein ECA39)
length: 386
go: ENSG00000060982;
drug: DB00996;DB00142;DB00167;DB00149;DB00161;DB07544;DB00114;
snps: rs17374285 rs7313020 rs1057204
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; branched-chain-amino-acid transaminase activity [GO:0004084]; identical protein binding [GO:0042802]; L-isoleucine transaminase activity [GO:0052656]; L-leucine transaminase activity [GO:0052654]; L-valine transaminase activity [GO:0052655]; branched-chain amino acid biosynthetic process [GO:0009082]; branched-chain amino acid catabolic process [GO:0009083]; cell proliferation [GO:0008283]; G1/S transition of mitotic cell cycle [GO:0000082]; leucine biosynthetic process [GO:0009098]; valine biosynthetic process [GO:0009099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P54687-1; Sequence=Displayed; Name=2; IsoId=P54687-2; Sequence=VSP_042651, VSP_042652; Note=No experimental confirmation available.; Name=3; IsoId=P54687-3; Sequence=VSP_042652; Note=No experimental confirmation available.; Name=4; IsoId=P54687-4; Sequence=VSP_043560; Note=No experimental confirmation available.; Name=5; IsoId=P54687-5; Sequence=VSP_046057; Note=No experimental confirmation available.; 


uniprotID: P56945
geneSymbol: BCAR1
reactome: R-HSA-186763;R-HSA-372708;R-HSA-4420097;R-HSA-8849471;
pdb: 1WYX;3T6G;5O2M;5O2P;5O2Q;
length: 870
go: ENSG00000050820;
snps: rs1035539 rs16957558 rs16957552
name:
Breast cancer anti-estrogen resistance protein 1 (CRK-associated substrate) (Cas scaffolding protein family member 1) (p130cas)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; ruffle [GO:0001726]; protein kinase binding [GO:0019901]; SH3 domain binding [GO:0017124]; actin filament organization [GO:0007015]; actin filament reorganization [GO:0090527]; antigen receptor-mediated signaling pathway [GO:0050851]; B cell receptor signaling pathway [GO:0050853]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; cell division [GO:0051301]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; epidermal growth factor receptor signaling pathway [GO:0007173]; G protein-coupled receptor signaling pathway [GO:0007186]; hepatocyte growth factor receptor signaling pathway [GO:0048012]; insulin receptor signaling pathway [GO:0008286]; integrin-mediated signaling pathway [GO:0007229]; neurotrophin TRK receptor signaling pathway [GO:0048011]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of cell migration [GO:0030335]; positive regulation of endothelial cell migration [GO:0010595]; regulation of apoptotic process [GO:0042981]; regulation of cell growth [GO:0001558]; T cell receptor signaling pathway [GO:0050852]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=P56945-1; Sequence=Displayed; Name=2; IsoId=P56945-2; Sequence=VSP_043559; Note=No experimental confirmation available.; Name=3; IsoId=P56945-3; Sequence=VSP_045355; Name=4; IsoId=P56945-4; Sequence=VSP_046127, VSP_046128; Note=No experimental confirmation available.; Name=5; IsoId=P56945-5; Sequence=VSP_046748; Note=No experimental confirmation available.; Name=6; IsoId=P56945-6; Sequence=VSP_046749; Note=No experimental confirmation available.; Name=7; IsoId=P56945-7; Sequence=VSP_046750; Note=No experimental confirmation available.; Name=8; IsoId=P56945-8; Sequence=VSP_046751; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, focal adhesion {ECO:0000269|PubMed:12832404}. Cytoplasm {ECO:0000269|PubMed:12832404}. Note=Unphosphorylated form localizes in the cytoplasm and can move to the membrane upon tyrosine phosphorylation. {ECO:0000250}.


uniprotID: Q96AQ7
geneSymbol: CIDEC
reactome: R-HSA-8963889;R-HSA-8964572;
length: 238
go: ENSG00000187288;
name:
Cell death activator CIDE-3 (Cell death-inducing DFFA-like effector protein C) (Fat-specific protein FSP27 homolog)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; lipid droplet [GO:0005811]; nucleus [GO:0005634]; apoptotic process [GO:0006915]; execution phase of apoptosis [GO:0097194]; lipid droplet organization [GO:0034389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=CIDE-3; IsoId=Q96AQ7-1; Sequence=Displayed; Name=2; Synonyms=CIDE-3alpha; IsoId=Q96AQ7-2; Sequence=VSP_012738; Name=3; Synonyms=CIDE-3beta; IsoId=Q96AQ7-3; Sequence=VSP_012739, VSP_012740; Name=4; IsoId=Q96AQ7-4; Sequence=VSP_045051; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Endoplasmic reticulum. Lipid droplet. Note=Diffuses quickly on lipid droplet surface, but becomes trapped and clustered at lipid droplet contact sites, thereby enabling its rapid enrichment at lipid droplet contact sites.


uniprotID: Q9HAY6
geneSymbol: BCO1
reactome: R-HSA-975634;
length: 547
go: ENSG00000135697;
snps: rs119478057 rs12934922 rs7501331
name:
Beta,beta-carotene 15,15'-dioxygenase (EC 1.13.11.63) (Beta-carotene dioxygenase 1) (Beta-carotene oxygenase 1)

sequence:

opentargets:
cytosol [GO:0005829]; beta-carotene 15,15'-monooxygenase activity [GO:0003834]; carotenoid dioxygenase activity [GO:0010436]; metal ion binding [GO:0046872]; retinal isomerase activity [GO:0004744]; beta-carotene metabolic process [GO:1901810]; carotene catabolic process [GO:0016121]; retinal metabolic process [GO:0042574]; retinoid metabolic process [GO:0001523]; retinol metabolic process [GO:0042572]; vitamin A biosynthetic process [GO:0035238]


uniprotID: Q9BYV7
geneSymbol: BCO2
reactome: R-HSA-975634;
name: Beta,beta-carotene 9',10'-oxygenase (EC 1.13.11.71) (B-diox-II) (Beta-carotene dioxygenase 2)
length: 579
go: ENSG00000197580;
snps: rs10891338 rs17113607 rs2217401
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21106934}.
sequence:

opentargets:
intracellular [GO:0005622]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; beta,beta-carotene-9',10'-cleaving oxygenase activity [GO:0102076]; beta-carotene 15,15'-monooxygenase activity [GO:0003834]; carotenoid dioxygenase activity [GO:0010436]; metal ion binding [GO:0046872]; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen [GO:0016702]; retinal isomerase activity [GO:0004744]; carotene catabolic process [GO:0016121]; carotene metabolic process [GO:0016119]; carotenoid metabolic process [GO:0016116]; oxidation-reduction process [GO:0055114]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of reactive oxygen species metabolic process [GO:2000377]; retinal metabolic process [GO:0042574]; retinoic acid metabolic process [GO:0042573]; retinoid metabolic process [GO:0001523]; xanthophyll metabolic process [GO:0016122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BYV7-1; Sequence=Displayed; Name=2; IsoId=Q9BYV7-2; Sequence=VSP_008599; Note=No experimental confirmation available.; Name=4; IsoId=Q9BYV7-4; Sequence=VSP_008599, VSP_008600; Note=No experimental confirmation available.; Name=5; IsoId=Q9BYV7-5; Sequence=VSP_046916; Note=No experimental confirmation available.; Name=6; IsoId=Q9BYV7-6; Sequence=VSP_046915; Note=No experimental confirmation available.; 


uniprotID: Q8IUL8
geneSymbol: CILP2
length: 1156
go: ENSG00000160161;
opentargets: extracellular exosome [GO:0070062]; dephosphorylation [GO:0016311]
name:
Cartilage intermediate layer protein 2 (CILP-2) [Cleaved into: Cartilage intermediate layer protein 2 C1; Cartilage intermediate layer protein 2 C2]

sequence:

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:21880736}.


uniprotID: P10415
geneSymbol: BCL2
reactome: R-HSA-111447;R-HSA-111453;R-HSA-6785807;R-HSA-844455;R-HSA-9018519;
name: Apoptosis regulator Bcl-2
length: 239
go: ENSG00000171791;
drug: DB05764;DB05297;DB01248;DB04940;DB01050;DB01229;DB01367;DB05281;DB11581;
snps: rs1800477
pdb:
1G5M;1GJH;1YSW;2O21;2O22;2O2F;2W3L;2XA0;4AQ3;4IEH;4LVT;4LXD;4MAN;5AGW;5AGX;5FCG;5JSN;5VAU;5VAX;5VAY;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pore complex [GO:0046930]; protein-containing complex [GO:0032991]; BH3 domain binding [GO:0051434]; channel activity [GO:0015267]; channel inhibitor activity [GO:0016248]; identical protein binding [GO:0042802]; protease binding [GO:0002020]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein phosphatase 2A binding [GO:0051721]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; actin filament organization [GO:0007015]; apoptotic process [GO:0006915]; axon regeneration [GO:0031103]; axonogenesis [GO:0007409]; B cell homeostasis [GO:0001782]; B cell lineage commitment [GO:0002326]; B cell proliferation [GO:0042100]; B cell receptor signaling pathway [GO:0050853]; behavioral fear response [GO:0001662]; branching involved in ureteric bud morphogenesis [GO:0001658]; CD8-positive, alpha-beta T cell lineage commitment [GO:0043375]; cell aging [GO:0007569]; cell-cell adhesion [GO:0098609]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to glucose starvation [GO:0042149]; cellular response to hypoxia [GO:0071456]; cochlear nucleus development [GO:0021747]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; digestive tract morphogenesis [GO:0048546]; ear development [GO:0043583]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; female pregnancy [GO:0007565]; focal adhesion assembly [GO:0048041]; gland morphogenesis [GO:0022612]; glomerulus development [GO:0032835]; hair follicle morphogenesis [GO:0031069]; homeostasis of number of cells within a tissue [GO:0048873]; humoral immune response [GO:0006959]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; lymphoid progenitor cell differentiation [GO:0002320]; male gonad development [GO:0008584]; melanin metabolic process [GO:0006582]; melanocyte differentiation [GO:0030318]; mesenchymal cell development [GO:0014031]; metanephros development [GO:0001656]; negative regulation of anoikis [GO:2000811]; negative regulation of apoptotic process [GO:0043066]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of autophagy [GO:0010507]; negative regulation of calcium ion transport into cytosol [GO:0010523]; negative regulation of cell growth [GO:0030308]; negative regulation of cell migration [GO:0030336]; negative regulation of cellular pH reduction [GO:0032848]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; negative regulation of mitochondrial depolarization [GO:0051902]; negative regulation of myeloid cell apoptotic process [GO:0033033]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of ossification [GO:0030279]; negative regulation of osteoblast proliferation [GO:0033689]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative regulation of retinal cell programmed cell death [GO:0046671]; neuron apoptotic process [GO:0051402]; oocyte development [GO:0048599]; organ growth [GO:0035265]; ossification [GO:0001503]; ovarian follicle development [GO:0001541]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; pigment granule organization [GO:0048753]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of catalytic activity [GO:0043085]; positive regulation of cell growth [GO:0030307]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of melanocyte differentiation [GO:0045636]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of neuron maturation [GO:0014042]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of skeletal muscle fiber development [GO:0048743]; positive regulation of smooth muscle cell migration [GO:0014911]; post-embryonic development [GO:0009791]; protein dephosphorylation [GO:0006470]; protein polyubiquitination [GO:0000209]; reactive oxygen species metabolic process [GO:0072593]; regulation of calcium ion transport [GO:0051924]; regulation of cell-matrix adhesion [GO:0001952]; regulation of gene expression [GO:0010468]; regulation of glycoprotein biosynthetic process [GO:0010559]; regulation of mitochondrial membrane permeability [GO:0046902]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of nitrogen utilization [GO:0006808]; regulation of protein heterodimerization activity [GO:0043497]; regulation of protein homodimerization activity [GO:0043496]; regulation of protein stability [GO:0031647]; regulation of transmembrane transporter activity [GO:0022898]; regulation of viral genome replication [GO:0045069]; release of cytochrome c from mitochondria [GO:0001836]; renal system process [GO:0003014]; response to cytokine [GO:0034097]; response to drug [GO:0042493]; response to gamma radiation [GO:0010332]; response to glucocorticoid [GO:0051384]; response to hydrogen peroxide [GO:0042542]; response to iron ion [GO:0010039]; response to ischemia [GO:0002931]; response to nicotine [GO:0035094]; response to radiation [GO:0009314]; response to toxic substance [GO:0009636]; response to UV-B [GO:0010224]; spleen development [GO:0048536]; T cell differentiation in thymus [GO:0033077]; T cell homeostasis [GO:0043029]; thymus development [GO:0048538]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Alpha; IsoId=P10415-1; Sequence=Displayed; Name=Beta; IsoId=P10415-2; Sequence=VSP_000512; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:2250705}; Single-pass membrane protein {ECO:0000269|PubMed:2250705}. Nucleus membrane {ECO:0000269|PubMed:2250705}; Single-pass membrane protein {ECO:0000269|PubMed:2250705}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:2250705}; Single-pass membrane protein {ECO:0000269|PubMed:2250705}.


uniprotID: P20749
geneSymbol: BCL3
pdb: 1K1A;1K1B;
name: B-cell lymphoma 3 protein (BCL-3) (Proto-oncogene BCL3)
length: 454
go: ENSG00000069399;
sequence:

opentargets:
Bcl3-Bcl10 complex [GO:0032996]; Bcl3/NF-kappaB2 complex [GO:0033257]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; protein binding, bridging [GO:0030674]; transcription factor binding [GO:0008134]; antimicrobial humoral response [GO:0019730]; cellular response to DNA damage stimulus [GO:0006974]; defense response to bacterium [GO:0042742]; defense response to protozoan [GO:0042832]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; extracellular matrix organization [GO:0030198]; follicular dendritic cell differentiation [GO:0002268]; germinal center formation [GO:0002467]; humoral immune response mediated by circulating immunoglobulin [GO:0002455]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; maintenance of protein location in nucleus [GO:0051457]; marginal zone B cell differentiation [GO:0002315]; negative regulation of apoptotic process [GO:0043066]; negative regulation of interleukin-8 biosynthetic process [GO:0045415]; negative regulation of JAK-STAT cascade [GO:0046426]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of tumor necrosis factor biosynthetic process [GO:0042536]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-10 biosynthetic process [GO:0045082]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of translation [GO:0045727]; protein import into nucleus, translocation [GO:0000060]; regulation of apoptotic process [GO:0042981]; regulation of DNA binding [GO:0051101]; regulation of NIK/NF-kappaB signaling [GO:1901222]; response to UV-C [GO:0010225]; response to virus [GO:0009615]; spleen development [GO:0048536]; T-helper 1 type immune response [GO:0042088]; T-helper 2 cell differentiation [GO:0045064]; transcription, DNA-templated [GO:0006351]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. Note=Ubiquitination via 'Lys-63'-linked ubiquitin chains is required for nuclear accumulation. {ECO:0000250}.


uniprotID: Q8N143
geneSymbol: BCL6B
length: 479
go: ENSG00000161940;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
B-cell CLL/lymphoma 6 member B protein (Bcl6-associated zinc finger protein) (Zinc finger protein 62)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]


uniprotID: P41182
geneSymbol: BCL6
reactome: R-HSA-6785807;R-HSA-6803205;
length: 706
go: ENSG00000113916;
snps: rs34463990 rs2229362 rs1056936
pdb:
1R28;1R29;1R2B;2EN2;2EOS;2LCE;2YRM;3BIM;3E4U;3LBZ;4CP3;4U2M;5H7G;5H7H;5MW2;5MW6;5MWD;5N1X;5N1Z;5N20;5N21;5X4M;5X4N;5X4O;5X4P;5X4Q;5X9O;5X9P;

name:
B-cell lymphoma 6 protein (BCL-6) (B-cell lymphoma 5 protein) (BCL-5) (Protein LAZ-3) (Zinc finger and BTB domain-containing protein 27) (Zinc finger protein 51)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; identical protein binding [GO:0042802]; intronic transcription regulatory region sequence-specific DNA binding [GO:0001161]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; actin cytoskeleton organization [GO:0030036]; B cell differentiation [GO:0030183]; cell morphogenesis [GO:0000902]; cellular response to DNA damage stimulus [GO:0006974]; cytokine-mediated signaling pathway [GO:0019221]; erythrocyte development [GO:0048821]; germinal center formation [GO:0002467]; inflammatory response [GO:0006954]; negative regulation of B cell apoptotic process [GO:0002903]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of cellular senescence [GO:2000773]; negative regulation of isotype switching to IgE isotypes [GO:0048294]; negative regulation of mast cell cytokine production [GO:0032764]; negative regulation of mitotic cell cycle DNA replication [GO:1903464]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of Rho protein signal transduction [GO:0035024]; negative regulation of T-helper 2 cell differentiation [GO:0045629]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of apoptotic process [GO:0043065]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cellular component movement [GO:0051272]; positive regulation of histone deacetylation [GO:0031065]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of regulatory T cell differentiation [GO:0045591]; protein import into nucleus, translocation [GO:0000060]; regulation of apoptotic process [GO:0042981]; regulation of cell proliferation [GO:0042127]; regulation of germinal center formation [GO:0002634]; regulation of GTPase activity [GO:0043087]; regulation of immune response [GO:0050776]; regulation of inflammatory response [GO:0050727]; regulation of memory T cell differentiation [GO:0043380]; Rho protein signal transduction [GO:0007266]; spermatogenesis [GO:0007283]; type 2 immune response [GO:0042092]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P41182-1; Sequence=Displayed; Name=2; IsoId=P41182-2; Sequence=VSP_042709; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12504096, ECO:0000269|PubMed:17828269, ECO:0000269|PubMed:22113614, ECO:0000269|PubMed:23166356}.


uniprotID: Q9BQE9
geneSymbol: BCL7B
name: B-cell CLL/lymphoma 7 protein family member B (allergen Hom s 3)
length: 202
go: ENSG00000106635;
sequence:

opentargets:
actin binding [GO:0003779]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BQE9-1; Sequence=Displayed; Name=2; IsoId=Q9BQE9-2; Sequence=VSP_019276, VSP_019277; Note=No experimental confirmation available.; Name=3; IsoId=Q9BQE9-3; Sequence=VSP_019278, VSP_019279; Name=4; IsoId=Q9BQE9-4; Sequence=VSP_045923; Note=No experimental confirmation available.; 


uniprotID: Q8WUZ0
geneSymbol: BCL7C
name: B-cell CLL/lymphoma 7 protein family member C
length: 217
go: ENSG00000099385;
opentargets: apoptotic process [GO:0006915]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WUZ0-1; Sequence=Displayed; Name=2; IsoId=Q8WUZ0-2; Sequence=VSP_019282; 


uniprotID: P0C6P0
geneSymbol: NBEAP1
name: Putative protein BCL8 (Neurobeachin pseudogene 1)
length: 100
snps: rs6422240 rs6422239 rs7497658
sequence:
MSCCLSSRVHITRPVLEQFLSFAKYLDGLSHGVPLLKQLCDHILFINPAIWIHTPAKVQLSLYTYLSAEFIGTATIYTTICRIGTVIKDNAHLKILLLGY


uniprotID: A2AJT9
geneSymbol: BCLAF3
name: BCLAF1 and THRAP3 family member 3
length: 711
go: ENSG00000173681;
opentargets: mitochondrion [GO:0005739]
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A2AJT9-1; Sequence=Displayed; Name=2; IsoId=A2AJT9-2; Sequence=VSP_025459; Name=3; IsoId=A2AJT9-3; Sequence=VSP_025458; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q8N888
geneSymbol: BCORP1
name: Putative BCoR-like protein 2 (BCL-6 corepressor pseudogene 1) (BCL-6 corepressor-like protein 2)
length: 145
sequence:
MKEKLSKKRAEVKGNRSWLEEFLKPSDNEEGPPPKNKVLSNNASSQKPTHSSCIPLLRLPDKQQKVNESIKTDMLCTDKEEECPAASLLQKYTNNSEKPSGKRQCKTKHLISQDLRQGFLLTGKCYVENADGKIPLGTCFLLGLI


uniprotID: Q5H9F3
geneSymbol: BCORL1
pdb: 4HPM;5JH5;
name: BCL-6 corepressor-like protein 1 (BCoR-L1) (BCoR-like protein 1)
length: 1711
opentargets: nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; chromatin organization [GO:0006325]
snps: rs4830173 rs5932715
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17379597}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5H9F3-1; Sequence=Displayed; Name=2; IsoId=Q5H9F3-2; Sequence=VSP_029778; Name=3; IsoId=Q5H9F3-3; Sequence=VSP_029779; 


uniprotID: Q14011
geneSymbol: CIRBP
pdb: 1X5S;5TBX;
name: Cold-inducible RNA-binding protein (A18 hnRNP) (Glycine-rich RNA-binding protein CIRP)
length: 172
go: ENSG00000099622;
sequence:
MASDEGKLFVGGLSFDTNEQSLEQVFSKYGQISEVVVVKDRETQRSRGFGFVTFENIDDAKDAMMAMNGKSVDGRQIRVDQAGKSSDNRSRGYRGGSAGGRGFFRGGRGRGRGFSRGGGDRGYGGNRFESRSGGYGGSRDYYSSRSQSGGYSDRSSGGSYRDSYDSYATHNE

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; spliceosomal complex [GO:0005681]; mRNA 3'-UTR binding [GO:0003730]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; small ribosomal subunit rRNA binding [GO:0070181]; translation repressor activity [GO:0030371]; mRNA stabilization [GO:0048255]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]; positive regulation of translation [GO:0045727]; response to cold [GO:0009409]; response to UV [GO:0009411]; stress granule assembly [GO:0034063]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14011-1; Sequence=Displayed; Name=2; IsoId=Q14011-2; Sequence=VSP_056402, VSP_056403; Note=No experimental confirmation available.; Name=3; IsoId=Q14011-3; Sequence=VSP_056895, VSP_056403; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:11574538}. Cytoplasm {ECO:0000269|PubMed:11574538}. Note=Translocates from the nucleus to the cytoplasm after exposure to UV radiation. Translocates from the nucleus to the cytoplasm into stress granules upon various cytoplasmic stresses, such as osmotic and heat shocks. Its recruitment into stress granules occurs in the absence of TIAR proteins (By similarity). {ECO:0000250}.


uniprotID: P11274
geneSymbol: BCR
reactome: R-HSA-1839117;R-HSA-194840;R-HSA-5655302;
pdb: 1K1F;2AIN;5N6R;5N7E;5OC7;
name: Breakpoint cluster region protein (EC 2.7.11.1) (Renal carcinoma antigen NY-REN-26)
length: 1271
go: ENSG00000186716;
drug: DB06616;DB08901;
sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; postsynaptic density [GO:0014069]; postsynaptic density, intracellular component [GO:0099092]; postsynaptic membrane [GO:0045211]; protein-containing complex [GO:0032991]; Schaffer collateral - CA1 synapse [GO:0098685]; ATP binding [GO:0005524]; GTPase activator activity [GO:0005096]; kinase activity [GO:0016301]; protein serine/threonine kinase activity [GO:0004674]; protein tyrosine kinase activity [GO:0004713]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; actin cytoskeleton organization [GO:0030036]; brain development [GO:0007420]; cellular response to lipopolysaccharide [GO:0071222]; definitive hemopoiesis [GO:0060216]; homeostasis of number of cells [GO:0048872]; inner ear morphogenesis [GO:0042472]; intracellular protein transmembrane transport [GO:0065002]; intracellular signal transduction [GO:0035556]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of blood vessel remodeling [GO:0060313]; negative regulation of cellular extravasation [GO:0002692]; negative regulation of inflammatory response [GO:0050728]; negative regulation of neutrophil degranulation [GO:0043314]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative regulation of respiratory burst [GO:0060268]; neuromuscular process controlling balance [GO:0050885]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of phagocytosis [GO:0050766]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of cell cycle [GO:0051726]; regulation of nitrogen compound metabolic process [GO:0051171]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; regulation of vascular permeability [GO:0043114]; renal system process [GO:0003014]; signal transduction [GO:0007165]

snps:
rs56321828 rs4437065 rs12484731 rs140504 rs35537221 rs2229038 rs776552570 rs778229520 rs745459086 rs11558696 rs879255379 rs35812689 rs200099830 rs55816482 rs56265970 rs55719322 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11274-1; Sequence=Displayed; Name=2; IsoId=P11274-2; Sequence=VSP_024352; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q6PAJ1}.


uniprotID: Q9NSE2
geneSymbol: CISH
reactome: R-HSA-1266695;R-HSA-8951664;R-HSA-982772;
length: 258
go: ENSG00000114737;
name:
Cytokine-inducible SH2-containing protein (CIS) (CIS-1) (Protein G18) (Suppressor of cytokine signaling) (SOCS)

sequence:

opentargets:
cytosol [GO:0005829]; phosphatidylinositol 3-kinase complex [GO:0005942]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; interleukin-7-mediated signaling pathway [GO:0038111]; intracellular signal transduction [GO:0035556]; negative regulation of insulin receptor signaling pathway [GO:0046627]; phosphatidylinositol phosphorylation [GO:0046854]; post-translational protein modification [GO:0043687]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; protein ubiquitination [GO:0016567]; regulation of cell growth [GO:0001558]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NSE2-1; Sequence=Displayed; Name=1B; IsoId=Q9NSE2-2; Sequence=VSP_006194; Name=1C; IsoId=Q9NSE2-3; Sequence=VSP_006195; 


uniprotID: P23560
geneSymbol: BDNF
pdb: 1B8M;1BND;
name: Brain-derived neurotrophic factor (BDNF) (Abrineurin)
length: 247
go: ENSG00000176697;
drug: DB05047;
snps: rs8192466 rs6265 rs1048218 rs1048220 rs1048221
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-9024909;R-HSA-9026519;R-HSA-9026527;R-HSA-9028335;R-HSA-9028731;R-HSA-9032500;R-HSA-9032759;R-HSA-9032845;

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; dendrite [GO:0030425]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; perinuclear region of cytoplasm [GO:0048471]; synaptic vesicle [GO:0008021]; growth factor activity [GO:0008083]; activation of phospholipase C activity [GO:0007202]; axon guidance [GO:0007411]; brain-derived neurotrophic factor receptor signaling pathway [GO:0031547]; collateral sprouting [GO:0048668]; memory [GO:0007613]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of myotube differentiation [GO:0010832]; negative regulation of neuron apoptotic process [GO:0043524]; nerve development [GO:0021675]; nerve growth factor signaling pathway [GO:0038180]; nervous system development [GO:0007399]; neuron projection morphogenesis [GO:0048812]; neurotrophin TRK receptor signaling pathway [GO:0048011]; peripheral nervous system development [GO:0007422]; positive regulation of brain-derived neurotrophic factor receptor signaling pathway [GO:0031550]; positive regulation of collateral sprouting [GO:0048672]; positive regulation of non-membrane spanning protein tyrosine kinase activity [GO:1903997]; positive regulation of receptor binding [GO:1900122]; positive regulation of synapse assembly [GO:0051965]; regulation of neuron differentiation [GO:0045664]; regulation of protein localization to cell surface [GO:2000008]; synapse assembly [GO:0007416]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=5;  Comment=2 types of transcripts are produced: non-coding transcripts (antisense, opposite strand (OS), 8 exons) and coding transcripts (11 exons). Brain BDNF and anti-BDNF transcripts form dsRNA duplexes.; Name=1; IsoId=P23560-1; Sequence=Displayed; Name=2; IsoId=P23560-2; Sequence=VSP_037948; Name=3; IsoId=P23560-3; Sequence=VSP_038099; Name=4; IsoId=P23560-4; Sequence=VSP_038100; Name=5; IsoId=P23560-5; Sequence=VSP_038101; 


uniprotID: A6H8Y1
geneSymbol: BDP1
reactome: R-HSA-749476;R-HSA-76061;R-HSA-76066;R-HSA-76071;
pdb: 5N9G;
length: 2624
go: ENSG00000145734;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11161782}.
name:
Transcription factor TFIIIB component B'' homolog (Transcription factor IIIB 150) (TFIIIB150) (Transcription factor-like nuclear regulator)

sequence:

opentargets:
nucleoplasm [GO:0005654]; transcription factor TFIIIB complex [GO:0000126]; DNA binding [GO:0003677]; RNA polymerase III general transcription initiation factor activity [GO:0000995]; TFIIIC-class transcription factor complex binding [GO:0001156]; RNA polymerase III preinitiation complex assembly [GO:0070898]

snps:
rs3748042 rs3748043 rs9687593 rs36009281 rs3761966 rs3761967 rs715748 rs1961760 rs715747 rs6886336 rs1698063 rs12187098 rs6453014 rs17276250 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=A6H8Y1-1; Sequence=Displayed; Name=2; IsoId=A6H8Y1-2; Sequence=VSP_033577, VSP_033578; Name=3; IsoId=A6H8Y1-3; Sequence=VSP_033570, VSP_033574; Name=4; IsoId=A6H8Y1-4; Sequence=VSP_033572, VSP_033573; Name=5; IsoId=A6H8Y1-5; Sequence=VSP_033568, VSP_033571, VSP_033574; Note=No experimental confirmation available.; Name=6; IsoId=A6H8Y1-6; Sequence=VSP_033569; Note=No experimental confirmation available.; Name=7; IsoId=A6H8Y1-7; Sequence=VSP_033575, VSP_033581, VSP_033582; Note=No experimental confirmation available.; Name=8; IsoId=A6H8Y1-8; Sequence=VSP_033567, VSP_033576, VSP_033579, VSP_033580; Note=No experimental confirmation available.; 


uniprotID: Q3B7T3
geneSymbol: BEAN1
name: Protein BEAN1 (Brain-expressed protein associating with Nedd4 homolog) (BEAN)
length: 259
go: ENSG00000166546;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3B7T3-1; Sequence=Displayed; Name=2; IsoId=Q3B7T3-2; Sequence=VSP_031911; Name=3; IsoId=Q3B7T3-3; Sequence=VSP_031911, VSP_046914; Note=No experimental confirmation available.; 


uniprotID: Q14457
geneSymbol: BECN1
reactome: R-HSA-1632852;R-HSA-5689880;
pdb: 2P1L;2PON;3DVU;4DDP;4MI8;5EFM;5HHE;5VAU;5VAX;5VAY;6DCN;6DCO;
length: 450
go: ENSG00000126581;
name:
Beclin-1 (Coiled-coil myosin-like BCL2-interacting protein) (Protein GT197) [Cleaved into: Beclin-1-C 35 kDa; Beclin-1-C 37 kDa]

sequence:

opentargets:
autophagosome [GO:0005776]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; endosome membrane [GO:0010008]; extrinsic component of membrane [GO:0019898]; mitochondrial membrane [GO:0031966]; nucleus [GO:0005634]; phagocytic vesicle [GO:0045335]; phagophore assembly site [GO:0000407]; phosphatidylinositol 3-kinase complex, class III [GO:0035032]; phosphatidylinositol 3-kinase complex, class III, type I [GO:0034271]; phosphatidylinositol 3-kinase complex, class III, type II [GO:0034272]; trans-Golgi network [GO:0005802]; GTPase binding [GO:0051020]; phosphatidylinositol 3-kinase binding [GO:0043548]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; ubiquitin protein ligase binding [GO:0031625]; aging [GO:0007568]; amyloid-beta metabolic process [GO:0050435]; apoptotic process [GO:0006915]; autophagosome assembly [GO:0000045]; autophagy [GO:0006914]; autophagy of mitochondrion [GO:0000422]; cell division [GO:0051301]; cellular defense response [GO:0006968]; cellular response to aluminum ion [GO:0071275]; cellular response to amino acid starvation [GO:0034198]; cellular response to copper ion [GO:0071280]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to glucose starvation [GO:0042149]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to nitrogen starvation [GO:0006995]; defense response to virus [GO:0051607]; early endosome to late endosome transport [GO:0045022]; engulfment of apoptotic cell [GO:0043652]; late endosome to vacuole transport [GO:0045324]; lysosome organization [GO:0007040]; macroautophagy [GO:0016236]; mitophagy [GO:0000423]; mitotic metaphase plate congression [GO:0007080]; negative regulation of apoptotic process [GO:0043066]; negative regulation of autophagosome assembly [GO:1902902]; negative regulation of cell death [GO:0060548]; negative regulation of cell proliferation [GO:0008285]; negative regulation of lysosome organization [GO:1905672]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; neuron development [GO:0048666]; positive regulation of attachment of mitotic spindle microtubules to kinetochore [GO:1902425]; positive regulation of autophagosome assembly [GO:2000786]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; protein deubiquitination [GO:0016579]; protein localization by the Cvt pathway [GO:0032258]; receptor catabolic process [GO:0032801]; regulation of catalytic activity [GO:0050790]; regulation of cytokinesis [GO:0032465]; response to hypoxia [GO:0001666]; response to iron(II) ion [GO:0010040]; response to lead ion [GO:0010288]; response to mitochondrial depolarisation [GO:0098780]; response to vitamin E [GO:0033197]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O88597, ECO:0000269|PubMed:19713971, ECO:0000269|PubMed:21364619}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:19050071}; Peripheral membrane protein {ECO:0000269|PubMed:19050071}. Endosome membrane {ECO:0000269|PubMed:23878393}; Peripheral membrane protein {ECO:0000269|PubMed:23878393}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:23878393}; Peripheral membrane protein {ECO:0000269|PubMed:23878393}. Mitochondrion membrane {ECO:0000269|PubMed:23878393}; Peripheral membrane protein {ECO:0000269|PubMed:23878393}. Endosome {ECO:0000250|UniProtKB:O88597}. Cytoplasmic vesicle, autophagosome {ECO:0000305}. Note=Interaction with ATG14 promotes translocation to autophagosomes. Expressed in dendrites and cell bodies of cerebellar Purkinje cells (By similarity). {ECO:0000250|UniProtKB:O88597, ECO:0000269|PubMed:19050071}.; SUBCELLULAR LOCATION: Beclin-1-C 35 kDa: Mitochondrion {ECO:0000269|PubMed:21364619, ECO:0000269|PubMed:26263979}. Nucleus {ECO:0000269|PubMed:19713971}. Cytoplasm {ECO:0000269|PubMed:19713971}.; SUBCELLULAR LOCATION: Beclin-1-C 37 kDa: Mitochondrion {ECO:0000250|UniProtKB:O88597}.


uniprotID: Q5T742
geneSymbol: C10orf25
name: Uncharacterized protein C10orf25
length: 122
opentargets: extracellular region [GO:0005576]
snps: rs41301609 rs12269028
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MVPGPPESVVRFFLWFCFLLPPTRKASCDPRDLKSCNRPCVWSRLLKPNSSLSNLETAYFPQILRFLRPWYFSRSHLNYHQKAPARWEWLYSIYRKGTKAQRRNVLRSPCAPPQPSWPCSVI


uniprotID: A4QN01
geneSymbol: LINC01553
name: Putative uncharacterized protein encoded by LINC01553
length: 128
sequence:
MKHKYNTLSWYKKERSTQLRRFIVHQPEVGLFFFLRDVVYNYITEKTTCRCPLTQERPCDTGGKFGRIWICQPEELGKMQIWICQPEELGKMQIDKNRTMVQQMWYIWYGGLDTSTNSLLPILVRGMA


uniprotID: P0C842
geneSymbol: LINC00614
name: Putative uncharacterized protein encoded by LINC00614
length: 121
opentargets: catalytic activity [GO:0003824]
sequence:
MEGRNCTVEILPERLNIEGWYDADDTKPGKSWAGRAASIERLNEFDNNLFGISDLEAECLDPQQKLLLECTYGALESAGVPAKEVAGSRTGVFIGIMNQDYEFMSRRTPRMQTTVMPLDLQ


uniprotID: Q8N6V4
geneSymbol: C10orf53
name: UPF0728 protein C10orf53
sequence: MPKNAVVILRYGPYSAAGLPVEHHTFRLQGLQAVLAIDGHEVILEKIEDWNVVELMVNEEVIFHCNIKDLEFGGDGKLDPLCEKARIAVLNAY
length: 93
go: ENSG00000178645;
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N6V4-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8N6V4-2; Sequence=VSP_036509; Note=No experimental confirmation available.; Name=3; IsoId=Q8N6V4-3; Sequence=VSP_036867; Note=No experimental confirmation available.; Name=4; IsoId=Q8N6V4-4; Sequence=VSP_046396; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q5SWW7
geneSymbol: C10orf55
name: Uncharacterized protein C10orf55
length: 151
go: ENSG00000222047;
sequence:
MFLHLDSHSSLERTKPTVVGVDTHMELDEVHCCPGRDSGGGFIKGPMLQGLQGEGKLAPIPKPTLPSPSRLTLFVSSSQMEDHGFPARRNGLTQASFIYQMPAGWGSPGGLFLPCQPVPTPVVLKPPLPPCPISWGESGPAVDGIRRTPAP


uniprotID: Q5T681
geneSymbol: C10orf62
name: Uncharacterized protein C10orf62
length: 223
go: ENSG00000203942;
snps: rs7093840
sequence:


uniprotID: Q5T1B1
geneSymbol: C10orf91
name: Uncharacterized protein C10orf91
length: 145
snps: rs11146376
sequence:
MWSFLPGAESVSMGPVPGVSSLGACWTHDQDSGRAEDRPQAPRITQYTWVLSFLFTEKPQTRSTSPISHQGQPQTTRALSLRQPQHPSAPASGRPRPPHSSGPDLAEAAPVVDQASQAAGRASSGLGLWEQASVSQGFRNAAFEA


uniprotID: Q9H7T3
geneSymbol: C10orf95
name: Uncharacterized protein C10orf95
length: 257
sequence:


uniprotID: Q8TEF2
geneSymbol: C10orf105
name: Uncharacterized protein C10orf105
length: 133
go: ENSG00000214688;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MSTEGPSLASSPAISPLAFLSAPVTPGTLAEATDPLPMLIALACIFLLLATCLLFMTLCKPAALDPSRRRAHECMPHHPGSPSEPQLRLWKRLGSLRLSLHSFRHGRPTVPRQPLPGPEDNRSHCDYMESTKM


uniprotID: Q8N326
geneSymbol: C10orf111
name: Uncharacterized protein C10orf111
length: 155
opentargets: integral component of membrane [GO:0016021]
snps: rs7896053
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MESLQTPQHRENQDKREKEYGVKHMPMGNNAGNLEPEKRKAVRVALSSATAAQNIPSSVHCGCSKQWRLRLPSESLQSRGQVMKRPNNILKLRNLDLLIYPWPELRRRQVASDLMSLLLLPAFSGLTWAPFLFLFTYLPPFLNLLTVGFVSYFLV


uniprotID: Q5VZT2
geneSymbol: C10orf113
name: Putative uncharacterized protein C10orf113
length: 155
go: ENSG00000204683;
snps: rs11591355 rs625223
sequence:
MAKSERRIYSMESMAPEISEDIGCPLAYMRESVCALLINQSFFSCVAEMYIPDMNRPGKAERRAEKGLRPPRKLVGETRRLQSWPTLARWLRRVSFSLYKPPIQAAPEPDPGNWAKSPRLSLGPEGITKGKHGFKFQGIKEKFNVSKKVLKMTFL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VZT2-1; Sequence=Displayed; Name=2; IsoId=Q5VZT2-2; Sequence=VSP_044974, VSP_044975; Note=No experimental confirmation available.; 


uniprotID: Q00535
geneSymbol: CDK5
reactome: R-HSA-180024;R-HSA-399956;R-HSA-6804756;R-HSA-8862803;R-HSA-9032845;R-HSA-983231;
pdb: 1H4L;1LFR;1UNG;1UNH;1UNL;3O0G;4AU8;
length: 292
go: ENSG00000164885;
drug: DB04014;DB03496;DB02950;DB02052;DB02116;DB03428;
snps: rs35186917
name:
Cyclin-dependent-like kinase 5 (EC 2.7.11.1) (Cell division protein kinase 5) (Serine/threonine-protein kinase PSSALRE) (Tau protein kinase II catalytic subunit) (TPKII catalytic subunit)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; filopodium [GO:0030175]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; membrane [GO:0016020]; microtubule [GO:0005874]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; presynapse [GO:0098793]; protein kinase 5 complex [GO:0016533]; Schaffer collateral - CA1 synapse [GO:0098685]; acetylcholine receptor activator activity [GO:0030549]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cytoskeletal protein binding [GO:0008092]; ephrin receptor binding [GO:0046875]; ErbB-2 class receptor binding [GO:0005176]; ErbB-3 class receptor binding [GO:0043125]; Hsp90 protein binding [GO:0051879]; kinase activity [GO:0016301]; p53 binding [GO:0002039]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; tau-protein kinase activity [GO:0050321]; voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels [GO:0099635]; axon extension [GO:0048675]; axonogenesis [GO:0007409]; behavioral response to cocaine [GO:0048148]; calcium ion import [GO:0070509]; cell cycle [GO:0007049]; cell division [GO:0051301]; cell proliferation [GO:0008283]; cell-matrix adhesion [GO:0007160]; cellular response to amyloid-beta [GO:1904646]; central nervous system neuron development [GO:0021954]; cerebellar cortex formation [GO:0021697]; chemical synaptic transmission [GO:0007268]; corpus callosum development [GO:0022038]; cortical actin cytoskeleton organization [GO:0030866]; dendrite morphogenesis [GO:0048813]; excitatory postsynaptic potential [GO:0060079]; hippocampus development [GO:0021766]; intracellular protein transport [GO:0006886]; layer formation in cerebral cortex [GO:0021819]; microtubule cytoskeleton organization [GO:0000226]; mitochondrion organization [GO:0007005]; motor neuron axon guidance [GO:0008045]; negative regulation of axon extension [GO:0030517]; negative regulation of cell cycle [GO:0045786]; negative regulation of neuron death [GO:1901215]; negative regulation of protein export from nucleus [GO:0046826]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of proteolysis [GO:0045861]; negative regulation of synaptic plasticity [GO:0031914]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron apoptotic process [GO:0051402]; neuron differentiation [GO:0030182]; neuron migration [GO:0001764]; neuron projection development [GO:0031175]; nucleocytoplasmic transport [GO:0006913]; oligodendrocyte differentiation [GO:0048709]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; phosphorylation [GO:0016310]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of glial cell apoptotic process [GO:0034352]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of protein binding [GO:0032092]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein targeting to membrane [GO:0090314]; protein autophosphorylation [GO:0046777]; protein localization to synapse [GO:0035418]; protein phosphorylation [GO:0006468]; receptor catabolic process [GO:0032801]; receptor clustering [GO:0043113]; regulation of apoptotic process [GO:0042981]; regulation of cell cycle arrest [GO:0071156]; regulation of cell migration [GO:0030334]; regulation of dendritic spine morphogenesis [GO:0061001]; regulation of macroautophagy [GO:0016241]; regulation of protein localization to plasma membrane [GO:1903076]; regulation of synaptic plasticity [GO:0048167]; regulation of synaptic transmission, glutamatergic [GO:0051966]; regulation of synaptic vesicle recycling [GO:1903421]; response to wounding [GO:0009611]; rhythmic process [GO:0048511]; Schwann cell development [GO:0014044]; sensory perception of pain [GO:0019233]; serine phosphorylation of STAT protein [GO:0042501]; skeletal muscle tissue development [GO:0007519]; synapse assembly [GO:0007416]; synapse pruning [GO:0098883]; synaptic transmission, dopaminergic [GO:0001963]; synaptic transmission, glutamatergic [GO:0035249]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle exocytosis [GO:0016079]; synaptic vesicle transport [GO:0048489]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q00535-1; Sequence=Displayed; Name=2; Synonyms=CDK5-SV; IsoId=Q00535-2; Sequence=VSP_041948; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Cell membrane; Peripheral membrane protein. Perikaryon. Cell projection, lamellipodium {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Note=In axonal growth cone with extension to the peripheral lamellipodia (By similarity). Under neurotoxic stress and neuronal injury conditions, CDK5R (p35) is cleaved by calpain to generate CDK5R1 (p25) in response to increased intracellular calcium. The elevated level of p25, when in complex with CDK5, leads to its subcellular misallocation as well as its hyperactivation. Colocalizes with CTNND2 in the cell body of neuronal cells, and with CTNNB1 in the cell-cell contacts and plasma membrane of undifferentiated and differentiated neuroblastoma cells. Reversibly attached to the plasma membrane in an inactive form when complexed to dephosphorylated p35 or CDK5R2 (p39), p35 phosphorylation releases this attachment and activates CDK5. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus.


uniprotID: P18848
geneSymbol: ATF4
reactome: R-HSA-380994;R-HSA-381042;R-HSA-381183;
pdb: 1CI6;
length: 351
go: ENSG00000128272;
drug: DB00852;
snps: rs4894 rs1803323 rs1803324
name:
Cyclic AMP-dependent transcription factor ATF-4 (cAMP-dependent transcription factor ATF-4) (Activating transcription factor 4) (Cyclic AMP-responsive element-binding protein 2) (CREB-2) (cAMP-responsive element-binding protein 2) (DNA-binding protein TAXREB67) (Tax-responsive enhancer element-binding protein 67) (TaxREB67)

sequence:

opentargets:
ATF1-ATF4 transcription factor complex [GO:1990590]; ATF4-CREB1 transcription factor complex [GO:1990589]; CHOP-ATF4 complex [GO:1990617]; cytoplasm [GO:0005737]; dendrite membrane [GO:0032590]; Lewy body core [GO:1990037]; microtubule organizing center [GO:0005815]; neuron projection [GO:0043005]; nuclear periphery [GO:0034399]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; leucine zipper domain binding [GO:0043522]; protein C-terminus binding [GO:0008022]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; RNA polymerase II transcription factor binding [GO:0001085]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; cellular amino acid metabolic process [GO:0006520]; cellular calcium ion homeostasis [GO:0006874]; cellular response to amino acid starvation [GO:0034198]; cellular response to dopamine [GO:1903351]; cellular response to glucose starvation [GO:0042149]; cellular response to oxygen-glucose deprivation [GO:0090650]; cellular response to UV [GO:0034644]; circadian regulation of gene expression [GO:0032922]; gamma-aminobutyric acid signaling pathway [GO:0007214]; gluconeogenesis [GO:0006094]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; mRNA transcription by RNA polymerase II [GO:0042789]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of oxidative stress-induced neuron death [GO:1903204]; negative regulation of potassium ion transport [GO:0043267]; negative regulation of translational initiation in response to stress [GO:0032057]; neuron differentiation [GO:0030182]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of apoptotic process [GO:0043065]; positive regulation of biomineral tissue development [GO:0070169]; positive regulation of gene expression [GO:0010628]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of sodium-dependent phosphate transport [GO:2000120]; positive regulation of transcription by RNA polymerase I [GO:0045943]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to arsenic-containing substance [GO:0061395]; positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990440]; positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress [GO:0036091]; positive regulation of transcription from RNA polymerase II promoter in response to stress [GO:0036003]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular associated smooth muscle cell apoptotic process [GO:1905461]; positive regulation of vascular endothelial growth factor production [GO:0010575]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; response to endoplasmic reticulum stress [GO:0034976]; response to manganese-induced endoplasmic reticulum stress [GO:1990737]; response to toxic substance [GO:0009636]; transcription by RNA polymerase II [GO:0006366]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9ES19}. Cell membrane {ECO:0000250|UniProtKB:Q9ES19}. Nucleus {ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:22974638}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20873783}. Note=Colocalizes with GABBR1 in hippocampal neuron dendritic membranes (By similarity). Colocalizes with NEK6 at the centrosome (PubMed:20873783). {ECO:0000250|UniProtKB:Q9ES19, ECO:0000269|PubMed:20873783}.


uniprotID: Q9NYQ7
geneSymbol: CELSR3
length: 3312
go: ENSG00000008300;
snps: rs3733085 rs3821875 rs12107252
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Cadherin EGF LAG seven-pass G-type receptor 3 (Cadherin family member 11) (Epidermal growth factor-like protein 1) (EGF-like protein 1) (Flamingo homolog 1) (hFmi1) (Multiple epidermal growth factor-like domains protein 2) (Multiple EGF-like domains protein 2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; G protein-coupled receptor activity [GO:0004930]; axonal fasciculation [GO:0007413]; cilium assembly [GO:0060271]; dopaminergic neuron axon guidance [GO:0036514]; G protein-coupled receptor signaling pathway [GO:0007186]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; neuron migration [GO:0001764]; planar cell polarity pathway involved in axon guidance [GO:1904938]; regulation of protein localization [GO:0032880]; regulation of protein phosphorylation [GO:0001932]; serotonergic neuron axon guidance [GO:0036515]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NYQ7-1; Sequence=Displayed; Name=2; IsoId=Q9NYQ7-2; Sequence=VSP_037125; Note=No experimental confirmation available.; 


uniprotID: Q5TC12
geneSymbol: ATPAF1
name: ATP synthase mitochondrial F1 complex assembly factor 1 (ATP11 homolog)
length: 328
go: ENSG00000123472;
snps: rs11211337
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
sequence:

opentargets:
mitochondrion [GO:0005739]; mitochondrial proton-transporting ATP synthase complex assembly [GO:0033615]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5TC12-1; Sequence=Displayed; Name=2; IsoId=Q5TC12-2; Sequence=VSP_045437; Name=3; IsoId=Q5TC12-3; Sequence=VSP_045438; 


uniprotID: Q53EZ4
geneSymbol: CEP55
pdb: 3E1R;3WUT;3WUU;3WUV;
name: Centrosomal protein of 55 kDa (Cep55) (Up-regulated in colon cancer 6)
length: 464
go: ENSG00000138180;
snps: rs3740370 rs7080916 rs7072484 rs2293277
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cleavage furrow [GO:0032154]; Flemming body [GO:0090543]; intercellular bridge [GO:0045171]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; plasma membrane [GO:0005886]; cranial skeletal system development [GO:1904888]; establishment of protein localization [GO:0045184]; midbody abscission [GO:0061952]; mitotic cytokinesis [GO:0000281]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; renal system development [GO:0072001]; septum digestion after cytokinesis [GO:0000920]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53EZ4-1; Sequence=Displayed; Name=2; IsoId=Q53EZ4-2; Sequence=VSP_014750, VSP_014751; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28264986}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:16198290}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16198290}. Cleavage furrow {ECO:0000269|PubMed:16198290}. Midbody, Midbody ring {ECO:0000269|PubMed:16198290, ECO:0000269|PubMed:17853893, ECO:0000269|PubMed:18641129, ECO:0000269|PubMed:21310966, ECO:0000269|PubMed:28264986}. Note=Present at the centrosomes at interphase. A small portion is associated preferentially with the mother centriole, whereas the majority localizes to the pericentriolar material. During mitosis, loses affinity for the centrosome at the onset of prophase and diffuses throughout the cell. This dissociation from the centrosome is phosphorylation-dependent. May remain localized at the centrosome during mitosis in certain cell types. Appears at the cleavage furrow in late anaphase and in the midbody in cytokinesis. {ECO:0000269|PubMed:16198290}.


uniprotID: Q8NHQ1
geneSymbol: CEP70
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: Centrosomal protein of 70 kDa (Cep70) (p10-binding protein)
length: 597
go: ENSG00000114107;
snps: rs1673607 rs35340237
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; gamma-tubulin binding [GO:0043015]; identical protein binding [GO:0042802]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of microtubule cytoskeleton organization [GO:0070507]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8NHQ1-1; Sequence=Displayed; Name=2; IsoId=Q8NHQ1-2; Sequence=VSP_012746, VSP_012747; Name=3; IsoId=Q8NHQ1-3; Sequence=VSP_012745; Name=4; IsoId=Q8NHQ1-4; Sequence=VSP_042140; Note=No experimental confirmation available.; Name=5; IsoId=Q8NHQ1-5; Sequence=VSP_042140, VSP_042141; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:21795687}. Note=Localized at the center of the radial microtubule array in interphase and at the spindle poles during various stages of mitosis.


uniprotID: Q8TAP6
geneSymbol: CEP76
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: Centrosomal protein of 76 kDa (Cep76)
length: 659
go: ENSG00000101624;
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; protein-containing complex [GO:0032991]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of centriole replication [GO:0046599]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TAP6-1; Sequence=Displayed; Name=2; IsoId=Q8TAP6-2; Sequence=VSP_037611; Note=No experimental confirmation available.; Name=3; IsoId=Q8TAP6-3; Sequence=VSP_037610, VSP_037612, VSP_037613; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Does not localize along the ciliary axoneme.


uniprotID: P27544
geneSymbol: CERS1
reactome: R-HSA-1660661;
length: 350
go: ENSG00000223802;
snps: rs200024180
name:
Ceramide synthase 1 (CerS1) (LAG1 longevity assurance homolog 1) (Longevity assurance gene 1 protein homolog 1) (Protein UOG-1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; sphingosine N-acyltransferase activity [GO:0050291]; cellular response to dithiothreitol [GO:0072721]; cellular response to drug [GO:0035690]; cellular response to mycotoxin [GO:0036146]; cellular response to UV-A [GO:0071492]; ceramide biosynthetic process [GO:0046513]; negative regulation of telomerase activity [GO:0051974]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P27544-1; Sequence=Displayed; Name=2; IsoId=P27544-2; Sequence=VSP_003049; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Isoform 1 may recycle from the Golgi to the endoplasmic reticulum.


uniprotID: Q96G23
geneSymbol: CERS2
reactome: R-HSA-1660661;
length: 380
go: ENSG00000143418;
snps: rs267738
name:
Ceramide synthase 2 (CerS2) (LAG1 longevity assurance homolog 2) (SP260) (Tumor metastasis-suppressor gene 1 protein)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; DNA binding [GO:0003677]; sphingosine N-acyltransferase activity [GO:0050291]; ceramide biosynthetic process [GO:0046513]; negative regulation of axon regeneration [GO:0048681]; negative regulation of Schwann cell migration [GO:1900148]; negative regulation of Schwann cell proliferation involved in axon regeneration [GO:1905045]; sphingolipid biosynthetic process [GO:0030148]

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000255|PROSITE-ProRule:PRU00108}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q8IU89
geneSymbol: CERS3
reactome: R-HSA-1660661;
length: 383
go: ENSG00000154227;
snps: rs60405735 rs1023783 rs2439928
name:
Ceramide synthase 3 (CerS3) (EC 2.3.1.24) (Dihydroceramide synthase 3) (LAG1 longevity assurance homolog 3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sphingosine N-acyltransferase activity [GO:0050291]; ceramide biosynthetic process [GO:0046513]; keratinocyte differentiation [GO:0030216]; sphingolipid biosynthetic process [GO:0030148]

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000255|PROSITE-ProRule:PRU00108}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q9HA82
geneSymbol: CERS4
reactome: R-HSA-1660661;
name: Ceramide synthase 4 (CerS4) (LAG1 longevity assurance homolog 4)
length: 394
go: ENSG00000090661;
snps: rs17159388 rs2288413 rs17160348 rs36259 rs17160349
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; DNA binding [GO:0003677]; sphingosine N-acyltransferase activity [GO:0050291]; ceramide biosynthetic process [GO:0046513]; sphingolipid biosynthetic process [GO:0030148]

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000255|PROSITE-ProRule:PRU00108}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q8N5B7
geneSymbol: CERS5
reactome: R-HSA-1660661;
name: Ceramide synthase 5 (CerS5) (EC 2.3.1.24) (LAG1 longevity assurance homolog 5)
length: 392
go: ENSG00000139624;
snps: rs7302981
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; DNA binding [GO:0003677]; sphingosine N-acyltransferase activity [GO:0050291]; ceramide biosynthetic process [GO:0046513]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N5B7-1; Sequence=Displayed; Name=2; IsoId=Q8N5B7-2; Sequence=VSP_054572; Note=No experimental confirmation available.; 


uniprotID: Q12798
geneSymbol: CETN1
name: Centrin-1 (Caltractin isoform 2)
length: 172
go: ENSG00000177143;
sequence:
MASGFKKPSAASTGQKRKVAPKPELTEDQKQEVREAFDLFDVDGSGTIDAKELKVAMRALGFEPRKEEMKKMISEVDREGTGKISFNDFLAVMTQKMSEKDTKEEILKAFRLFDDDETGKISFKNLKRVANELGENLTDEELQEMIDEADRDGDGEVNEEEFLRIMKKTSLY

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; nucleus [GO:0005634]; photoreceptor connecting cilium [GO:0032391]; spindle pole [GO:0000922]; calcium ion binding [GO:0005509]; G-protein beta/gamma-subunit complex binding [GO:0031683]; heterotrimeric G-protein binding [GO:0032795]; microtubule binding [GO:0008017]; calcium-mediated signaling [GO:0019722]; cellular response to heat [GO:0034605]; centriole replication [GO:0007099]; mitotic cytokinesis [GO:0000281]; regulation of centrosome duplication [GO:0010824]; regulation of cytokinesis [GO:0032465]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:8175926}. Note=Centrosome of interphase and mitotic cells. {ECO:0000269|PubMed:8175926}.


uniprotID: Q5T4I8
geneSymbol: C6orf52
name: Putative uncharacterized protein C6orf52
length: 152
go: ENSG00000137434;
snps: rs7749306
sequence:
MAQPESSADFGIAQQNNYYCYWQSLPSAIRVKQEFQPSQSYRYGNWYARQHGSYLLSGYSYGCAVDGNGKDCFSAHETPEHTAGTLVMPKETTPLAENQDEDPLEDPHLHLNIEESNQEFMVKSEELYDSLMNCHWQPLDTVHSEIPDETPK

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T4I8-1; Sequence=Displayed; Name=2; IsoId=Q5T4I8-2; Sequence=VSP_026991; Note=No experimental confirmation available.; 


uniprotID: Q5T5N4
geneSymbol: C6orf118
name: Uncharacterized protein C6orf118
length: 469
go: ENSG00000112539;
snps: rs36007498 rs510579 rs17852379 rs540751 rs9459350 rs17856754
sequence:


uniprotID: Q5JU67
geneSymbol: CFAP157
name: Cilia- and flagella-associated protein 157
length: 520
go: ENSG00000160401;
snps: rs497632
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q0VFX2}.
sequence:

opentargets:
ciliary basal body [GO:0036064]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; microtubule binding [GO:0008017]; sperm axoneme assembly [GO:0007288]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JU67-1; Sequence=Displayed; Name=2; IsoId=Q5JU67-2; Sequence=VSP_028641, VSP_028642; Note=No experimental confirmation available.; 


uniprotID: Q6P656
geneSymbol: CFAP161
name: Cilia- and flagella-associated protein 161
length: 301
go: ENSG00000156206;
snps: rs2279997
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P656-1; Sequence=Displayed; Name=2; IsoId=Q6P656-2; Sequence=VSP_019511, VSP_019512, VSP_019513; Note=No experimental confirmation available.; 


uniprotID: Q7Z4U5
geneSymbol: C6orf201
name: Uncharacterized protein C6orf201
length: 140
go: ENSG00000185689;
snps: rs619483 rs9503910 rs643232
sequence:
MLSNLHELLPNHLMETLYSRKSEEDKKKCENPELSGLERILARHQLPKEINLTPKPNRMPPWKRKIINNVTDGWKKCHLLKRNTKEPPMSTIVVRKLIQKNVPRRHSLRNTSRKLRNLPTTAKGTQTGKSQCLLGISEPT

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z4U5-2; Sequence=Displayed; Name=2; IsoId=Q7Z4U5-3; Sequence=VSP_040789, VSP_040790; 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: Q9P0P8
geneSymbol: C6orf203
name: Uncharacterized protein C6orf203
length: 240
go: ENSG00000130349;
opentargets: mitochondrion [GO:0005739]
sequence:


uniprotID: Q96N23
geneSymbol: CFAP54
name: Cilia- and flagella-associated protein 54
length: 3096
go: ENSG00000188596;
snps: rs3809197 rs2160501 rs2160502
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A8J666}.
sequence:

opentargets:
axoneme [GO:0005930]; cell differentiation [GO:0030154]; cilium assembly [GO:0060271]; cilium movement involved in cell motility [GO:0060294]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96N23-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on partial mRNA data.; Name=2; IsoId=Q96N23-2; Sequence=VSP_057365, VSP_057366; Note=Incomplete sequence. No experimental confirmation available.; 


uniprotID: Q96MR6
geneSymbol: CFAP57
name: Cilia- and flagella-associated protein 57 (WD repeat-containing protein 65)
length: 1250
go: ENSG00000243710;
opentargets: cilium-dependent cell motility [GO:0060285]
snps: rs6663799 rs663824 rs11210805 rs387907122
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MR6-1; Sequence=Displayed; Note=Gene prediction based on similarity to mouse ortholog.; Name=2; IsoId=Q96MR6-2; Sequence=VSP_039520, VSP_039521; 


uniprotID: Q92843
geneSymbol: BCL2L2
pdb: 1MK3;1O0L;1ZY3;2Y6W;4CIM;
name: Bcl-2-like protein 2 (Bcl2-L-2) (Apoptosis regulator Bcl-W)
length: 193
go: ENSG00000129473;ENSG00000258643;
drug: DB05764;
snps: rs910332
sequence:
MATPASAPDTRALVADFVGYKLRQKGYVCGAGPGEGPAADPLHQAMRAAGDEFETRFRRTFSDLAAQLHVTPGSAQQRFTQVSDELFQGGPNWGRLVAFFVFGAALCAESVNKEMEPLVGQVQEWMVAYLETQLADWIHSSGGWAEFTALYGDGALEEARRLREGNWASVRTVLTGAVALGALVTVGAFFASK

opentargets:
Bcl-2 family protein complex [GO:0097136]; cytosol [GO:0005829]; mitochondrial outer membrane [GO:0005741]; BH domain binding [GO:0051400]; disordered domain specific binding [GO:0097718]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; negative regulation of apoptotic process [GO:0043066]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; Sertoli cell proliferation [GO:0060011]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92843-1; Sequence=Displayed; Name=3; Synonyms=BCL2L2-PABPN1; IsoId=Q92843-2; Sequence=VSP_042064; Note=Based on a readthrough transcript which may produce a BCL2L2-PABPN1 fusion protein. No experimental confirmation available. {ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:19690332, ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:23186163, ECO:0000244|PubMed:24129315, ECO:0000244|PubMed:24275569}; 

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:11423909, ECO:0000269|PubMed:12952938}; Peripheral membrane protein {ECO:0000269|PubMed:11423909, ECO:0000269|PubMed:12952938}. Note=Loosely associated with the mitochondrial membrane in healthy cells. During apoptosis, tightly bound to the membrane.


uniprotID: Q9BXK5
geneSymbol: BCL2L13
pdb: 2IPD;
name: Bcl-2-like protein 13 (Bcl2-L-13) (Bcl-rambo) (Protein Mil1)
length: 485
go: ENSG00000099968;
snps: rs2587070 rs2587070 rs16981016 rs9306198
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=2; IsoId=Q9BXK5-1; Sequence=Displayed; Name=1; IsoId=Q9BXK5-2; Sequence=VSP_000526, VSP_000527; Name=3; IsoId=Q9BXK5-4; Sequence=VSP_046931; 

location:
SUBCELLULAR LOCATION: Isoform 2: Mitochondrion membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Nucleus {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000305}.


uniprotID: Q9BZR8
geneSymbol: BCL2L14
reactome: R-HSA-6803205;
name: Apoptosis facilitator Bcl-2-like protein 14 (Bcl2-L-14) (Apoptosis regulator Bcl-G)
length: 327
go: ENSG00000121380;
sequence:

opentargets:
cytosol [GO:0005829]; endomembrane system [GO:0012505]; intracellular organelle [GO:0043229]; membrane [GO:0016020]; protein kinase binding [GO:0019901]; apoptotic process [GO:0006915]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Bcl-Gl, Long; IsoId=Q9BZR8-1; Sequence=Displayed; Name=2; Synonyms=Bcl-Gs, Short; IsoId=Q9BZR8-2; Sequence=VSP_012239, VSP_012240; Name=3; Synonyms=Median; IsoId=Q9BZR8-3; Sequence=VSP_012241, VSP_012242; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11054413}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytosol. Note=Diffusely distributed throughout the cytosol.; SUBCELLULAR LOCATION: Isoform 2: Endomembrane system. Note=Predominantly localized to cytosolic organelles.


uniprotID: P61769
geneSymbol: B2M
name: Beta-2-microglobulin [Cleaved into: Beta-2-microglobulin form pI 5.3]
length: 119
go: ENSG00000166710;
drug: DB02740;DB00254;DB04464;
snps: rs104894481 rs398122820
reactome:
R-HSA-1236974;R-HSA-1236977;R-HSA-164940;R-HSA-198933;R-HSA-2172127;R-HSA-2424491;R-HSA-6798695;R-HSA-877300;R-HSA-977225;R-HSA-983170;

pdb:
1A1M;1A1N;1A1O;1A6Z;1A9B;1A9E;1AGB;1AGC;1AGD;1AGE;1AGF;1AKJ;1AO7;1B0G;1B0R;1BD2;1C16;1CE6;1CG9;1DE4;1DUY;1DUZ;1E27;1E28;1EEY;1EEZ;1EFX;1EXU;1GZP;1GZQ;1HHG;1HHH;1HHI;1HHJ;1HHK;1HLA;1HSA;1HSB;1I1F;1I1Y;1I4F;1I7R;1I7T;1I7U;1IM3;1IM9;1JF1;1JGD;1JGE;1JHT;1JNJ;1K5N;1KPR;1KTL;1LDS;1LP9;1M05;1M6O;1MHE;1MI5;1N2R;1OF2;1OGA;1OGT;1ONQ;1P7Q;1PY4;1Q94;1QEW;1QLF;1QQD;1QR1;1QRN;1QSE;1QSF;1QVO;1R3H;1S8D;1S9W;1S9X;1S9Y;1SYS;1SYV;1T1W;1T1X;1T1Y;1T1Z;1T20;1T21;1T22;1TMC;1TVB;1TVH;1UQS;1UR7;1UXS;1UXW;1VGK;1W0V;1W0W;1W72;1X7Q;1XH3;1XR8;1XR9;1XZ0;1YDP;1YPZ;1ZHK;1ZHL;1ZS8;1ZSD;1ZT4;1ZVS;2A83;2AK4;2AV1;2AV7;2AXF;2AXG;2BCK;2BNQ;2BNR;2BSR;2BSS;2BST;2BVO;2BVP;2BVQ;2C7U;2CII;2CIK;2CLR;2D31;2D4D;2D4F;2DYP;2E8D;2ESV;2F53;2F54;2F74;2F8O;2FYY;2FZ3;2GIT;2GJ6;2GT9;2GTW;2GTZ;2GUO;2H26;2H6P;2HJK;2HJL;2HLA;2HN7;2J8U;2JCC;2NW3;2NX5;2P5E;2P5W;2PO6;2PYE;2RFX;2UWE;2V2W;2V2X;2VB5;2VLJ;2VLK;2VLL;2VLR;2X4N;2X4O;2X4P;2X4Q;2X4R;2X4S;2X4T;2X4U;2X70;2X89;2XKS;2XKU;2XPG;2YPK;2YPL;2YXF;2Z9T;3AM8;3B3I;3B6S;3BGM;3BH8;3BH9;3BHB;3BO8;3BP4;3BP7;3BVN;3BW9;3BWA;3BXN;3BZE;3BZF;3C9N;3CDG;3CII;3CIQ;3CZF;3D18;3D25;3D2U;3D39;3D3V;3DBX;3DHJ;3DHM;3DTX;3DX6;3DX7;3DX8;3DXA;3EKC;3FFC;3FQN;3FQR;3FQT;3FQU;3FQW;3FQX;3FT2;3FT3;3FT4;3GIV;3GJF;3GSN;3GSO;3GSQ;3GSR;3GSU;3GSV;3GSW;3GSX;3H7B;3H9H;3H9S;3HAE;3HCV;3HG1;3HLA;3HPJ;3HUJ;3I6G;3I6K;3I6L;3IB4;3IXA;3JTS;3KLA;3KPL;3KPM;3KPN;3KPO;3KPP;3KPQ;3KPR;3KPS;3KWW;3KXF;3KYN;3KYO;3L3D;3L3G;3L3I;3L3J;3L3K;3LKN;3LKO;3LKP;3LKQ;3LKR;3LKS;3LN4;3LN5;3LOW;3LOZ;3LV3;3M17;3M1B;3MGO;3MGT;3MR9;3MRB;3MRC;3MRD;3MRE;3MRF;3MRG;3MRH;3MRI;3MRJ;3MRK;3MRL;3MRM;3MRN;3MRO;3MRP;3MRQ;3MRR;3MV7;3MV8;3MV9;3MYJ;3MYZ;3MZT;3NA4;3NFN;3O3A;3O3B;3O3D;3O3E;3O4L;3OV6;3OX8;3OXR;3OXS;3PWJ;3PWL;3PWN;3PWP;3QDA;3QDG;3QDJ;3QDM;3QEQ;3QFD;3QFJ;3QZW;3REW;3RL1;3RL2;3RWJ;3S6C;3SDX;3SJV;3SKM;3SKO;3SPV;3T8X;3TID;3TIE;3TLR;3TM6;3TO2;3TZV;3U0P;3UPR;3UTQ;3UTS;3UTT;3V5D;3V5H;3V5K;3VCL;3VFM;3VFN;3VFO;3VFP;3VFR;3VFS;3VFT;3VFU;3VFV;3VFW;3VH8;3VRI;3VRJ;3VWJ;3VWK;3VXM;3VXN;3VXO;3VXP;3VXR;3VXS;3VXU;3W0W;3W39;3WL9;3WLB;3WUW;3X11;3X12;3X13;3X14;4E0K;4E0L;4E5X;4EN3;4EUP;4F7M;4F7P;4F7T;4FTV;4FXL;4G8G;4G8I;4G9D;4G9F;4GKN;4GKS;4GUP;4HKJ;4HWZ;4HX1;4I48;4I4W;4JFD;4JFE;4JFF;4JFO;4JFP;4JFQ;4JQV;4JQX;4JRX;4JRY;4K71;4K7F;4KDT;4L29;4L3C;4L3E;4L4T;4L4V;4LCW;4LCY;4LHU;4LNR;4M8V;4MJ5;4MJ6;4MJI;4MNQ;4N0F;4N0U;4N8V;4NNX;4NNY;4NO0;4NO2;4NO3;4NO5;4NQC;4NQD;4NQE;4NQV;4NQX;4NT6;4O2C;4O2E;4O2F;4ONO;4PJ5;4PJ7;4PJ8;4PJ9;4PJA;4PJB;4PJC;4PJD;4PJE;4PJF;4PJG;4PJH;4PJI;4PJX;4PR5;4PRA;4PRB;4PRD;4PRE;4PRH;4PRI;4PRN;4PRP;4QOK;4QRP;4QRQ;4QRR;4QRS;4QRT;4QRU;4R9H;4RA3;4RAH;4RMQ;4RMR;4RMS;4RMT;4RMU;4RMV;4RMW;4U1H;4U1I;4U1J;4U1K;4U1L;4U1M;4U1N;4U1S;4U6X;4U6Y;4UQ2;4UQ3;4WC8;4WDI;4WJ5;4WO4;4WU5;4WU7;4WUU;4WW2;4WWK;4X0S;4X6C;4X6D;4X6E;4X6F;4XXC;4Z76;4Z77;4Z78;5B38;5B39;5BJT;5BRZ;5BS0;5BXF;5C07;5C08;5C09;5C0A;5C0B;5C0C;5C0D;5C0E;5C0F;5C0G;5C0I;5C0J;5C9J;5CFH;5CKA;5CKG;5CS7;5CSB;5CSG;5D2L;5D2N;5D5M;5D7I;5D7J;5D7L;5D9S;5DDH;5DEF;5DEG;5E00;5E6I;5E9D;5ENW;5EO0;5EO1;5EOT;5EU3;5EU4;5EU5;5EU6;5EUO;5F7D;5F9J;5FA3;5FA4;5FDW;5GR7;5GRD;5GRG;5GSB;5GSD;5GSR;5GSV;5GSX;5HGA;5HGB;5HGD;5HGH;5HHM;5HHN;5HHO;5HHP;5HHQ;5HYJ;5IB1;5IB2;5IB3;5IB4;5IB5;5IEH;5IEK;5IM7;5INC;5IND;5IRO;5ISZ;5IUE;5J1A;5JHD;5JZI;5KNM;5L2J;5L2K;5MEN;5MEO;5MEP;5MEQ;5MER;5N1Y;5N6B;5NHT;5NME;5NMF;5NMG;5NMH;5NMK;5NQ1;5NQ3;5NQK;5OPI;5SWQ;5T6W;5T6X;5T6Y;5T6Z;5T70;5TEZ;5TRZ;5TS1;5TXS;5U16;5U17;5U1R;5U2V;5U6Q;5U72;5U98;5V5L;5V5M;5VGD;5VGE;5VZ5;5W1V;5W1W;5W67;5W69;5W6A;5WER;5WHK;5WJL;5WJN;5WKE;5WKF;5WKG;5WKH;5WKI;5WL1;5WMN;5WMO;5WMP;5WMQ;5WMR;5WSH;5WWI;5WWJ;5WWU;5WXC;5WXD;5XOS;5XOT;5XOV;6AM5;6AMT;6AMU;6APN;6AT5;6AT9;6AVF;6AVG;6BJ2;6BJ3;6BJ8;6BXP;6BXQ;6C09;6C15;6C97;6C98;6C99;6EI2;6ENY;6FGB;6GGM;6GH1;6GH4;6GHN;6GL1;

sequence:
MSRSVALAVLALLSLSGLEAIQRTPKIQVYSRHPAENGKSNFLNCYVSGFHPSDIEVDLLKNGERIEKVEHSDLSFSKDWSFYLLYYTEFTPTEKDEYACRVNHVTLSQPKIVKWDRDM

opentargets:
cytosol [GO:0005829]; early endosome lumen [GO:0031905]; early endosome membrane [GO:0031901]; endoplasmic reticulum lumen [GO:0005788]; ER to Golgi transport vesicle membrane [GO:0012507]; 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]; Golgi membrane [GO:0000139]; HFE-transferrin receptor complex [GO:1990712]; membrane [GO:0016020]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; identical protein binding [GO:0042802]; antibacterial humoral response [GO:0019731]; antigen processing and presentation of endogenous peptide antigen via MHC class I [GO:0019885]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent [GO:0002481]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cellular protein metabolic process [GO:0044267]; cellular response to iron ion [GO:0071281]; cellular response to iron(III) ion [GO:0071283]; cellular response to lipopolysaccharide [GO:0071222]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; ferric iron import [GO:0033216]; innate immune response [GO:0045087]; interferon-gamma-mediated signaling pathway [GO:0060333]; iron ion homeostasis [GO:0055072]; negative regulation of neuron projection development [GO:0010977]; negative regulation of receptor binding [GO:1900121]; neutrophil degranulation [GO:0043312]; positive regulation of ferrous iron binding [GO:1904434]; positive regulation of protein binding [GO:0032092]; positive regulation of receptor binding [GO:1900122]; positive regulation of receptor-mediated endocytosis [GO:0048260]; positive regulation of T cell cytokine production [GO:0002726]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; positive regulation of transferrin receptor binding [GO:1904437]; protein refolding [GO:0042026]; regulation of defense response to virus by virus [GO:0050690]; regulation of erythrocyte differentiation [GO:0045646]; regulation of immune response [GO:0050776]; regulation of iron ion import [GO:1900390]; regulation of membrane depolarization [GO:0003254]; response to cadmium ion [GO:0046686]; response to drug [GO:0042493]; response to molecule of bacterial origin [GO:0002237]; retina homeostasis [GO:0001895]; T cell differentiation in thymus [GO:0033077]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:1336137, ECO:0000269|PubMed:7554280}. Cell surface {ECO:0000269|PubMed:25356553}. Note=Detected in serum and urine (PubMed:1336137, PubMed:7554280). {ECO:0000269|PubMed:7554280, ECO:0000269|Ref.6}.; SUBCELLULAR LOCATION: Note=(Microbial infection) In the presence of M.tuberculosis EsxA-EsxB complex decreased amounts of B2M are found on the cell surface (PubMed:25356553). {ECO:0000269|PubMed:25356553}.


uniprotID: P48751
geneSymbol: SLC4A3
reactome: R-HSA-425381;
length: 1232
go: ENSG00000114923;
snps: rs597306 rs36068948 rs635311
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Anion exchange protein 3 (AE 3) (Anion exchanger 3) (CAE3/BAE3) (Cardiac/brain band 3-like protein) (Neuronal band 3-like protein) (Solute carrier family 4 member 3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; anion:anion antiporter activity [GO:0015301]; inorganic anion exchanger activity [GO:0005452]; bicarbonate transport [GO:0015701]; regulation of intracellular pH [GO:0051453]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=BAE3; IsoId=P48751-1; Sequence=Displayed; Name=CAE3; IsoId=P48751-2; Sequence=VSP_000462, VSP_000463; Name=3; IsoId=P48751-3; Sequence=VSP_038184; 


uniprotID: Q96Q91
geneSymbol: SLC4A9
reactome: R-HSA-425381;
length: 983
go: ENSG00000113073;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Anion exchange protein 4 (AE 4) (Anion exchanger 4) (Sodium bicarbonate cotransporter 5) (Solute carrier family 4 member 9)

sequence:

opentargets:
apical part of cell [GO:0045177]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; anion:anion antiporter activity [GO:0015301]; inorganic anion exchanger activity [GO:0005452]; sodium:bicarbonate symporter activity [GO:0008510]; bicarbonate transport [GO:0015701]; regulation of intracellular pH [GO:0051453]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96Q91-1; Sequence=Displayed; Name=2; IsoId=Q96Q91-2; Sequence=VSP_007085, VSP_007086, VSP_007087; Name=3; IsoId=Q96Q91-3; Sequence=VSP_007085; Name=4; IsoId=Q96Q91-4; Sequence=VSP_007085, VSP_044785; Note=No experimental confirmation available.; 


uniprotID: P59052
geneSymbol: B3GALT5-AS1
length: 145
name:
Putative uncharacterized protein B3GALT5-AS1 (B3GALT5 antisense RNA 1) (B3GALT5 antisense gene protein 1)

sequence:
MRRLRHREVRGPVLGHTATGGPQNGTSGCTTAPQQRPPPGTQGMLEQYLNRGGQKSHGLCWLLCFVSQGQNQDVISAELWCRIHVQAHWGCWQNSAVWGCRNEVLVSLLAVGQGLPSASGGRLPSLVHGPSHPDSQHPREVPLAL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P59052-1; Sequence=Displayed; Name=2; IsoId=P59052-2; Sequence=VSP_003836, VSP_003837; Note=No experimental confirmation available.; 


uniprotID: P02730
geneSymbol: SLC4A1
reactome: R-HSA-1237044;R-HSA-1247673;R-HSA-425381;R-HSA-5619050;
pdb: 1BH7;1BNX;1BTQ;1BTR;1BTS;1BTT;1BZK;1HYN;2BTA;2BTB;3BTB;4KY9;4YZF;
length: 911
go: ENSG00000004939;
name:
Band 3 anion transport protein (Anion exchange protein 1) (AE 1) (Anion exchanger 1) (Solute carrier family 4 member 1) (CD antigen CD233)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; blood microparticle [GO:0072562]; cortical cytoskeleton [GO:0030863]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; Z disc [GO:0030018]; anion transmembrane transporter activity [GO:0008509]; anion:anion antiporter activity [GO:0015301]; ankyrin binding [GO:0030506]; bicarbonate transmembrane transporter activity [GO:0015106]; chloride transmembrane transporter activity [GO:0015108]; inorganic anion exchanger activity [GO:0005452]; protein homodimerization activity [GO:0042803]; protein membrane anchor [GO:0043495]; anion transport [GO:0006820]; bicarbonate transport [GO:0015701]; cellular ion homeostasis [GO:0006873]; chloride transport [GO:0006821]; regulation of intracellular pH [GO:0051453]

snps:
rs5035 rs45562031 rs34700496 rs5036 rs13306787 rs13306788 rs781490287 rs28929480 rs5037 rs121912749 rs28931583 rs1048804130 rs373768879 rs5018 rs121912756 rs28931584 rs1398477044 rs45568837 rs868742796 rs879202054 rs121912743 rs551784583 rs1393742050 rs5019 rs121912745 rs121912744 rs121912745 rs121912754 rs878853002 rs121912746 rs121912757 rs121912758 rs372514760 rs758868427 rs75731670 rs863225463 rs5022 rs5023 rs121912748 rs863225461 rs863225462 rs121912755 rs373916826 rs121912741 rs121912753 rs1167814744 rs866727908 rs5025 rs121912750 rs2285644 rs121912751 rs5026 rs121912759 rs28931585 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=eAE1, Erythrocyte; IsoId=P02730-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:7506871}; Synonyms=kAE1, Kidney; IsoId=P02730-2; Sequence=VSP_057833; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10926824, ECO:0000269|PubMed:24121512, ECO:0000269|PubMed:26542571, ECO:0000269|PubMed:7506871}; Multi-pass membrane protein {ECO:0000269|PubMed:26542571}. Basolateral cell membrane {ECO:0000269|PubMed:7506871}; Multi-pass membrane protein {ECO:0000269|PubMed:7506871}. Note=Detected in the erythrocyte cell membrane and on the basolateral membrane of alpha-intercalated cells in the collecting duct in the kidney. {ECO:0000269|PubMed:7506871}.


uniprotID: O43633
geneSymbol: CHMP2A
reactome: R-HSA-162588;R-HSA-1632852;R-HSA-432720;R-HSA-917729;
length: 222
go: ENSG00000130724;
name:
Charged multivesicular body protein 2a (Chromatin-modifying protein 2a) (CHMP2a) (Putative breast adenocarcinoma marker BC-2) (Vacuolar protein sorting-associated protein 2-1) (Vps2-1) (hVps2-1)

sequence:

opentargets:
cytosol [GO:0005829]; ESCRT III complex [GO:0000815]; extracellular exosome [GO:0070062]; late endosome membrane [GO:0031902]; membrane [GO:0016020]; membrane coat [GO:0030117]; multivesicular body [GO:0005771]; nuclear envelope [GO:0005635]; phosphatidylcholine binding [GO:0031210]; protein domain specific binding [GO:0019904]; endosomal transport [GO:0016197]; endosome transport via multivesicular body sorting pathway [GO:0032509]; ESCRT III complex disassembly [GO:1904903]; establishment of protein localization [GO:0045184]; exit from mitosis [GO:0010458]; late endosome to vacuole transport [GO:0045324]; macroautophagy [GO:0016236]; membrane invagination [GO:0010324]; midbody abscission [GO:0061952]; mitotic metaphase plate congression [GO:0007080]; multivesicular body assembly [GO:0036258]; negative regulation of cell death [GO:0060548]; negative regulation of centriole elongation [GO:1903723]; nuclear envelope reassembly [GO:0031468]; nucleus organization [GO:0006997]; positive regulation of exosomal secretion [GO:1903543]; positive regulation of viral release from host cell [GO:1902188]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; protein polymerization [GO:0051258]; protein transport [GO:0015031]; regulation of centrosome duplication [GO:0010824]; regulation of mitotic spindle assembly [GO:1901673]; regulation of viral process [GO:0050792]; septum digestion after cytokinesis [GO:0000920]; viral budding via host ESCRT complex [GO:0039702]; viral life cycle [GO:0019058]

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:16730941, ECO:0000269|PubMed:17853893}; Peripheral membrane protein {ECO:0000269|PubMed:16730941, ECO:0000269|PubMed:17853893}; Cytoplasmic side {ECO:0000269|PubMed:16730941, ECO:0000269|PubMed:17853893}. Note=Localizes to the midbody of dividing cells. Localized in two distinct rings on either side of the Fleming body.


uniprotID: Q9BY43
geneSymbol: CHMP4A
reactome: R-HSA-162588;R-HSA-1632852;R-HSA-917729;
pdb: 3C3O;5MK1;
length: 222
go: ENSG00000254505;
snps: rs2295322
name:
Charged multivesicular body protein 4a (Chromatin-modifying protein 4a) (CHMP4a) (SNF7 homolog associated with Alix-2) (SNF7-1) (hSnf-1) (Vacuolar protein sorting-associated protein 32-1) (Vps32-1) (hVps32-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; ESCRT III complex [GO:0000815]; late endosome membrane [GO:0031902]; membrane coat [GO:0030117]; midbody [GO:0030496]; nucleus [GO:0005634]; ATPase binding [GO:0051117]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; protein homodimerization activity [GO:0042803]; endosomal transport [GO:0016197]; macroautophagy [GO:0016236]; membrane invagination [GO:0010324]; midbody abscission [GO:0061952]; mitotic metaphase plate congression [GO:0007080]; multivesicular body assembly [GO:0036258]; negative regulation of autophagosome assembly [GO:1902902]; negative regulation of neuron death [GO:1901215]; nucleus organization [GO:0006997]; plasma membrane tubulation [GO:0097320]; posttranslational protein targeting to endoplasmic reticulum membrane [GO:0006620]; protein homooligomerization [GO:0051260]; protein polymerization [GO:0051258]; vacuolar transport [GO:0007034]; vesicle budding from membrane [GO:0006900]; viral budding via host ESCRT complex [GO:0039702]; viral life cycle [GO:0019058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BY43-1; Sequence=Displayed; Name=2; IsoId=Q9BY43-2; Sequence=VSP_056264; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane. Late endosome membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Membrane-associated. Localizes to large vesicle-like structures. Localizes to the midbody of dividing cells. Localized in two distinct rings on either side of the Fleming body.


uniprotID: Q9H444
geneSymbol: CHMP4B
reactome: R-HSA-162588;R-HSA-1632852;R-HSA-917729;
pdb: 3C3Q;3UM3;4ABM;5MK2;
length: 224
go: ENSG00000101421;
snps: rs118203965 rs118203966
name:
Charged multivesicular body protein 4b (Chromatin-modifying protein 4b) (CHMP4b) (SNF7 homolog associated with Alix 1) (SNF7-2) (hSnf7-2) (Vacuolar protein sorting-associated protein 32-2) (Vps32-2) (hVps32-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; endosome [GO:0005768]; ESCRT III complex [GO:0000815]; extracellular exosome [GO:0070062]; late endosome membrane [GO:0031902]; membrane coat [GO:0030117]; midbody [GO:0030496]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; vesicle [GO:0031982]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; autophagy [GO:0006914]; endosomal transport [GO:0016197]; exit from mitosis [GO:0010458]; macroautophagy [GO:0016236]; maintenance of lens transparency [GO:0036438]; membrane fission [GO:0090148]; midbody abscission [GO:0061952]; mitotic cytokinesis [GO:0000281]; mitotic metaphase plate congression [GO:0007080]; multivesicular body assembly [GO:0036258]; negative regulation of autophagosome assembly [GO:1902902]; negative regulation of cell death [GO:0060548]; negative regulation of neuron death [GO:1901215]; nuclear envelope reassembly [GO:0031468]; nucleus organization [GO:0006997]; positive regulation of viral release from host cell [GO:1902188]; posttranslational protein targeting to endoplasmic reticulum membrane [GO:0006620]; protein homooligomerization [GO:0051260]; regulation of centrosome duplication [GO:0010824]; regulation of mitotic spindle assembly [GO:1901673]; regulation of viral process [GO:0050792]; ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway [GO:0090611]; vacuolar transport [GO:0007034]; viral budding [GO:0046755]; viral budding via host ESCRT complex [GO:0039702]; viral life cycle [GO:0019058]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15511219}. Late endosome membrane {ECO:0000269|PubMed:15511219, ECO:0000305|PubMed:12860994}; Peripheral membrane protein {ECO:0000305}. Midbody {ECO:0000269|PubMed:21310966, ECO:0000269|PubMed:22422861}. Nucleus envelope {ECO:0000269|PubMed:26040712}. Note=Recruited to the nuclear envelope by CHMP7 during late anaphase (PubMed:26040712). Localizes transiently to the midbody arms immediately before abscission (PubMed:22422861). {ECO:0000269|PubMed:22422861, ECO:0000269|PubMed:26040712}.


uniprotID: Q96CF2
geneSymbol: CHMP4C
reactome: R-HSA-162588;R-HSA-1632852;R-HSA-917729;
pdb: 3C3R;5MK3;5V3R;5WA1;
length: 233
go: ENSG00000164695;
snps: rs35094336
name:
Charged multivesicular body protein 4c (Chromatin-modifying protein 4c) (CHMP4c) (SNF7 homolog associated with Alix 3) (SNF7-3) (hSnf7-3) (Vacuolar protein sorting-associated protein 32-3) (Vps32-3) (hVps32-3)

sequence:

opentargets:
cytosol [GO:0005829]; ESCRT III complex [GO:0000815]; Flemming body [GO:0090543]; late endosome membrane [GO:0031902]; midbody [GO:0030496]; protein homodimerization activity [GO:0042803]; abscission [GO:0009838]; endosomal transport [GO:0016197]; macroautophagy [GO:0016236]; midbody abscission [GO:0061952]; mitotic cytokinesis checkpoint [GO:0044878]; mitotic metaphase plate congression [GO:0007080]; multivesicular body assembly [GO:0036258]; negative regulation of cytokinesis [GO:0032466]; nucleus organization [GO:0006997]; positive regulation of viral release from host cell [GO:1902188]; protein transport [GO:0015031]; regulation of centrosome duplication [GO:0010824]; regulation of mitotic spindle assembly [GO:1901673]; regulation of viral process [GO:0050792]; ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway [GO:0090611]; vacuolar transport [GO:0007034]; viral budding via host ESCRT complex [GO:0039702]; viral life cycle [GO:0019058]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Late endosome membrane {ECO:0000305|PubMed:14583093}; Peripheral membrane protein {ECO:0000305}. Midbody, Midbody ring {ECO:0000269|PubMed:22422861}. Note=Localizes to the midbody during late cytokinesis. During its recruitment, localizes initially to the midbody arms, before being directed to the central region, the midbody ring, also called Flemming body. Phosphorylation at Ser-210 by AURKB triggers localization to midbody ring. {ECO:0000269|PubMed:22422861}.


uniprotID: P59074
geneSymbol: CHMP4BP1
length: 171
opentargets: vacuolar transport [GO:0007034]
name:
Putative charged multivesicular body protein 4B-like protein CHMP4BP1 (Charged multivesicular body protein 4B pseudogene 1)

sequence:
MLSKKQEFLEKKIEQRHGTKNKPAALQALKRKKRYEKQLAQIDGTLSTIEFQQQALENANTNTEVLKNMGSAAKAKKAAHDNMDIDKVDELMQDIADQQELGEEISTAISKPVGFGEKSDEDELMAELEELEQEEPDKNLLEVSGPETVPLPNVPSIALPSKPAKKRKTTT


uniprotID: O75752
geneSymbol: B3GALNT1
reactome: R-HSA-1660662;
length: 331
go: ENSG00000169255;
snps: rs2231257 rs28937582 rs104893683
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
name:
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 (Beta-1,3-GalNAc-T1) (EC 2.4.1.79) (Beta-1,3-galactosyltransferase 3) (Beta-1,3-GalTase 3) (Beta3Gal-T3) (Beta3GalT3) (b3Gal-T3) (Beta-3-Gx-T3) (Galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase) (Globoside synthase) (UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity [GO:0047273]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; glycosphingolipid metabolic process [GO:0006687]; oligosaccharide biosynthetic process [GO:0009312]; protein glycosylation [GO:0006486]; protein N-linked glycosylation [GO:0006487]


uniprotID: O96024
geneSymbol: B3GALT4
length: 378
go: ENSG00000235863;
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
name:
Beta-1,3-galactosyltransferase 4 (Beta-1,3-GalTase 4) (Beta3Gal-T4) (Beta3GalT4) (GalT4) (b3Gal-T4) (EC 2.4.1.62) (Gal-T2) (Ganglioside galactosyltransferase) (UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; ganglioside galactosyltransferase activity [GO:0047915]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; ganglioside biosynthetic process [GO:0001574]; protein glycosylation [GO:0006486]


uniprotID: Q9Y3E7
geneSymbol: CHMP3
reactome: R-HSA-162588;R-HSA-1632852;R-HSA-917729;
pdb: 2GD5;2XZE;3FRT;3FRV;
length: 222
go: ENSG00000115561;ENSG00000249884;
name:
Charged multivesicular body protein 3 (Chromatin-modifying protein 3) (Neuroendocrine differentiation factor) (Vacuolar protein sorting-associated protein 24) (hVps24)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; ESCRT III complex [GO:0000815]; extracellular exosome [GO:0070062]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; multivesicular body [GO:0005771]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; phosphatidylcholine binding [GO:0031210]; protein homodimerization activity [GO:0042803]; ubiquitin-specific protease binding [GO:1990381]; apoptotic process [GO:0006915]; autophagosome maturation [GO:0097352]; endosomal transport [GO:0016197]; endosome transport via multivesicular body sorting pathway [GO:0032509]; late endosome to vacuole transport [GO:0045324]; macroautophagy [GO:0016236]; midbody abscission [GO:0061952]; multivesicular body assembly [GO:0036258]; multivesicular body sorting pathway [GO:0071985]; multivesicular body-lysosome fusion [GO:0061763]; negative regulation of viral release from host cell [GO:1902187]; positive regulation of viral release from host cell [GO:1902188]; protein heterooligomerization [GO:0051291]; protein polymerization [GO:0051258]; protein transport [GO:0015031]; regulation of centrosome duplication [GO:0010824]; regulation of early endosome to late endosome transport [GO:2000641]; regulation of viral process [GO:0050792]; septum digestion after cytokinesis [GO:0000920]; viral budding via host ESCRT complex [GO:0039702]; viral life cycle [GO:0019058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Vps24alpha; IsoId=Q9Y3E7-1; Sequence=Displayed; Name=2; Synonyms=Vps24beta; IsoId=Q9Y3E7-2; Sequence=VSP_041076; Name=3; IsoId=Q9Y3E7-3; Sequence=VSP_042124; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y3E7-4; Sequence=VSP_042125; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Membrane; Lipid-anchor. Endosome. Late endosome membrane {ECO:0000305}. Note=Localizes to the midbody of dividing cells.


uniprotID: Q96L58
geneSymbol: B3GALT6
reactome: R-HSA-1971475;R-HSA-4420332;
length: 329
go: ENSG00000176022;
name:
Beta-1,3-galactosyltransferase 6 (Beta-1,3-GalTase 6) (Beta3Gal-T6) (Beta3GalT6) (EC 2.4.1.134) (GAG GalTII) (Galactosyltransferase II) (Galactosylxylosylprotein 3-beta-galactosyltransferase) (UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi medial cisterna [GO:0005797]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; galactosyltransferase activity [GO:0008378]; galactosylxylosylprotein 3-beta-galactosyltransferase activity [GO:0047220]; UDP-galactosyltransferase activity [GO:0035250]; chondroitin sulfate biosynthetic process [GO:0030206]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan metabolic process [GO:0030203]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; protein glycosylation [GO:0006486]

snps:
rs397514722 rs397514719 rs397514720 rs397514718 rs12085009 rs397514723 rs397514724 rs397514717 rs786200939 rs397514721 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:11551958}; Single-pass type II membrane protein {ECO:0000269|PubMed:11551958}.


uniprotID: Q9BYG0
geneSymbol: B3GNT5
reactome: R-HSA-913709;
length: 378
go: ENSG00000176597;
name:
Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase (EC 2.4.1.206) (Lactotriaosylceramide synthase) (Lc(3)Cer synthase) (Lc3 synthase) (UDP-GlcNAc:beta-Gal beta-1,3-N-acetylglucosaminyltransferase 5) (BGnT-5) (Beta-1,3-Gn-T5) (Beta-1,3-N-acetylglucosaminyltransferase 5) (Beta3Gn-T5)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; acetylgalactosaminyltransferase activity [GO:0008376]; beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity [GO:0008457]; lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity [GO:0047256]; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity [GO:0008532]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; brain development [GO:0007420]; central nervous system development [GO:0007417]; glycolipid biosynthetic process [GO:0009247]; O-glycan processing [GO:0016266]; poly-N-acetyllactosamine biosynthetic process [GO:0030311]; protein glycosylation [GO:0006486]


uniprotID: O43505
geneSymbol: B4GAT1
reactome: R-HSA-2022854;R-HSA-5173105;
length: 415
go: ENSG00000174684;
snps: rs35429253 rs397509397 rs397509396
name:
Beta-1,4-glucuronyltransferase 1 (EC 2.4.1.-) (I-beta-1,3-N-acetylglucosaminyltransferase) (iGnT) (N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase) (Poly-N-acetyllactosamine extension enzyme) (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; glucuronosyltransferase activity [GO:0015020]; metal ion binding [GO:0046872]; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity [GO:0008532]; axon guidance [GO:0007411]; keratan sulfate biosynthetic process [GO:0018146]; protein O-linked glycosylation [GO:0006493]; protein O-linked mannosylation [GO:0035269]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:19587235, ECO:0000269|PubMed:23359570, ECO:0000269|PubMed:25279699}; Single-pass type II membrane protein {ECO:0000269|PubMed:23359570}. Note=Localizes near the trans-Golgi apparatus. {ECO:0000269|PubMed:25279699}.


uniprotID: Q00973
geneSymbol: B4GALNT1
reactome: R-HSA-1660662;
length: 533
go: ENSG00000135454;
snps: rs774896 rs810205 rs756710480 rs879255242 rs17454674
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
name:
Beta-1,4 N-acetylgalactosaminyltransferase 1 (EC 2.4.1.92) ((N-acetylneuraminyl)-galactosylglucosylceramide) (GM2/GD2 synthase) (GalNAc-T)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; membrane [GO:0016020]; plasma membrane [GO:0005886]; (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity [GO:0003947]; carbohydrate metabolic process [GO:0005975]; ganglioside biosynthetic process [GO:0001574]; glycosphingolipid metabolic process [GO:0006687]; lipid glycosylation [GO:0030259]; lipid storage [GO:0019915]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q00973-1; Sequence=Displayed; Name=2; IsoId=Q00973-2; Sequence=VSP_055039; Name=3; IsoId=Q00973-3; Sequence=VSP_055040, VSP_055041; 


uniprotID: Q9Y5Z6
geneSymbol: B3GALT1
length: 326
go: ENSG00000172318;
name:
Beta-1,3-galactosyltransferase 1 (Beta-1,3-GalTase 1) (Beta3Gal-T1) (Beta3GalT1) (EC 2.4.1.86) (UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylgalactosaminyltransferase activity [GO:0008376]; glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity [GO:0047275]; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity [GO:0008499]; galactosylceramide biosynthetic process [GO:0006682]; lipid glycosylation [GO:0030259]; oligosaccharide biosynthetic process [GO:0009312]; protein glycosylation [GO:0006486]; protein N-linked glycosylation [GO:0006487]


uniprotID: P0C853
geneSymbol: BAALC-AS2
length: 105
name:
Putative uncharacterized protein BAALC-AS2 (BAALC antisense RNA 2) (BAALC antisense gene protein 2) (BAALC opposite strand protein)

sequence:
MSLKSWHPQSKTKRVGASEGNPQWGSGSMEAPLLSSFLPPLASEAELTGNTWFLHRCSCILNLEESMDSDWGAWWGVSLPRRAPFLIYGSDGPWCTQAGFPGWGH


uniprotID: Q9NWV8
geneSymbol: BABAM1
reactome: R-HSA-5689901;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-69473;
length: 329
go: ENSG00000105393;
name:
BRISC and BRCA1-A complex member 1 (Mediator of RAP80 interactions and targeting subunit of 40 kDa) (New component of the BRCA1-A complex)

sequence:

opentargets:
BRCA1-A complex [GO:0070531]; BRISC complex [GO:0070552]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cell cycle [GO:0007049]; cell division [GO:0051301]; chromatin organization [GO:0006325]; double-strand break repair [GO:0006302]; double-strand break repair via nonhomologous end joining [GO:0006303]; positive regulation of DNA repair [GO:0045739]; protein deubiquitination [GO:0016579]; protein K63-linked deubiquitination [GO:0070536]; response to ionizing radiation [GO:0010212]; signal transduction involved in G2 DNA damage checkpoint [GO:0072425]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NWV8-1; Sequence=Displayed; Name=2; IsoId=Q9NWV8-2; Sequence=VSP_037246, VSP_037249; Note=No experimental confirmation available.; Name=3; IsoId=Q9NWV8-3; Sequence=VSP_037247, VSP_037248; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19261749, ECO:0000269|PubMed:24075985}. Nucleus {ECO:0000269|PubMed:19261746, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19261749, ECO:0000269|PubMed:21282113, ECO:0000269|PubMed:24075985}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000269|PubMed:19261746, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19261749, ECO:0000269|PubMed:21282113}.


uniprotID: O43745
geneSymbol: CHP2
pdb: 2BEC;
name: Calcineurin B homologous protein 2 (Hepatocellular carcinoma-associated antigen 520)
length: 196
go: ENSG00000166869;
snps: rs35641939
sequence:
MGSRSSHAAVIPDGDSIRRETGFSQASLLRLHHRFRALDRNKKGYLSRMDLQQIGALAVNPLGDRIIESFFPDGSQRVDFPGFVRVLAHFRPVEDEDTETQDPKKPEPLNSRRNKLHYAFQLYDLDRDGKISRHEMLQVLRLMVGVQVTEEQLENIADRTVQEADEDGDGAVSFVEFTKSLEKMDVEQKMSIRILK

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; cellular response to calcium ion [GO:0071277]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; positive regulation of cell proliferation [GO:0008284]; positive regulation of phosphatase activity [GO:0010922]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21392185}. Cytoplasm {ECO:0000269|PubMed:21392185}. Cell membrane {ECO:0000269|PubMed:21392185}. Note=Predominantly localized in a juxtanuclear region. Colocalizes with SLC9A3 in the juxtanuclear region and at the plasma membrane (By similarity). Exported from the nucleus to the cytoplasm through a nuclear export signal (NES) pathway. May shuttle between nucleus and cytoplasm. {ECO:0000250}.


uniprotID: O00154
geneSymbol: ACOT7
reactome: R-HSA-77289;
pdb: 2QQ2;
length: 380
go: ENSG00000097021;
name:
Cytosolic acyl coenzyme A thioester hydrolase (EC 3.1.2.2) (Acyl-CoA thioesterase 7) (Brain acyl-CoA hydrolase) (BACH) (CTE-IIa) (CTE-II) (Long chain acyl-CoA thioester hydrolase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; acyl-CoA hydrolase activity [GO:0047617]; carboxylic ester hydrolase activity [GO:0052689]; fatty-acyl-CoA binding [GO:0000062]; long-chain fatty acyl-CoA binding [GO:0036042]; myristoyl-CoA hydrolase activity [GO:0102991]; palmitoyl-CoA hydrolase activity [GO:0016290]; protein homodimerization activity [GO:0042803]; acyl-CoA metabolic process [GO:0006637]; coenzyme A biosynthetic process [GO:0015937]; fatty acid catabolic process [GO:0009062]; long-chain fatty-acyl-CoA catabolic process [GO:0036116]; medium-chain fatty acid biosynthetic process [GO:0051792]; medium-chain fatty-acyl-CoA catabolic process [GO:0036114]; palmitic acid biosynthetic process [GO:1900535]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=B, HBACHb; IsoId=O00154-1; Sequence=Displayed; Name=2; Synonyms=A-X, hBACHa-X; IsoId=O00154-2; Sequence=VSP_000152, VSP_000155, VSP_000156; Name=3; Synonyms=A-Xi, hBACHa-Xi; IsoId=O00154-3; Sequence=VSP_000152, VSP_000154; Name=4; Synonyms=A, hBACHa; IsoId=O00154-4; Sequence=VSP_000152; Note=Major isoform.; Name=5; Synonyms=C, hBACHc; IsoId=O00154-5; Sequence=VSP_000151; Name=6; Synonyms=D, hBACHd; IsoId=O00154-6; Sequence=VSP_000153; Name=7; IsoId=O00154-7; Sequence=VSP_047094; 

location:
SUBCELLULAR LOCATION: Isoform 4: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 6: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 1: Mitochondrion.; SUBCELLULAR LOCATION: Isoform 5: Mitochondrion.


uniprotID: Q92934
geneSymbol: BAD
reactome: R-HSA-111447;R-HSA-111453;R-HSA-193648;R-HSA-198323;R-HSA-5674400;
pdb: 1G5J;
length: 168
go: ENSG00000002330;
drug: DB05764;
snps: rs3729933
name:
Bcl2-associated agonist of cell death (BAD) (Bcl-2-binding component 6) (Bcl-2-like protein 8) (Bcl2-L-8) (Bcl-xL/Bcl-2-associated death promoter) (Bcl2 antagonist of cell death)

sequence:
MFQIPEFEPSEQEDSSSAERGLGPSPAGDGPSGSGKHHRQAPGLLWDASHQQEQPTSSSHHGGAGAVEIRSRHSSYPAGTEDDEGMGEEPSPFRGRSRSAPPNLWAAQRYGRELRRMSDEFVDSFKKGLPRPKSAGTATQMRQSSSWTRVFQSWWDRNLGRGSSAPSQ

opentargets:
cytosol [GO:0005829]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; 14-3-3 protein binding [GO:0071889]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; lipid binding [GO:0008289]; phospholipid binding [GO:0005543]; protein heterodimerization activity [GO:0046982]; protein kinase B binding [GO:0043422]; protein kinase binding [GO:0019901]; protein phosphatase 2B binding [GO:0030346]; protein phosphatase binding [GO:0019903]; activation of cysteine-type endopeptidase activity [GO:0097202]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; ADP metabolic process [GO:0046031]; apoptotic process [GO:0006915]; ATP metabolic process [GO:0046034]; cellular process regulating host cell cycle in response to virus [GO:0060154]; cellular response to chromate [GO:0071247]; cellular response to hypoxia [GO:0071456]; cellular response to lipid [GO:0071396]; cellular response to mechanical stimulus [GO:0071260]; cellular response to nicotine [GO:0071316]; cerebral cortex development [GO:0021987]; cytokine-mediated signaling pathway [GO:0019221]; extrinsic apoptotic signaling pathway [GO:0097191]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; glucose catabolic process [GO:0006007]; glucose homeostasis [GO:0042593]; intrinsic apoptotic signaling pathway [GO:0097193]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; pore complex assembly [GO:0046931]; positive regulation of apoptotic process [GO:0043065]; positive regulation of apoptotic process by virus [GO:0060139]; positive regulation of autophagy [GO:0010508]; positive regulation of B cell differentiation [GO:0045579]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of glucokinase activity [GO:0033133]; positive regulation of granulosa cell apoptotic process [GO:1904710]; positive regulation of insulin secretion [GO:0032024]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of intrinsic apoptotic signaling pathway in response to osmotic stress [GO:1902220]; positive regulation of mitochondrial membrane potential [GO:0010918]; positive regulation of neuron death [GO:1901216]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of proteolysis [GO:0045862]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; positive regulation of T cell differentiation [GO:0045582]; positive regulation of type B pancreatic cell development [GO:2000078]; protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:0001844]; regulation of mitochondrial membrane permeability [GO:0046902]; release of cytochrome c from mitochondria [GO:0001836]; response to amino acid [GO:0043200]; response to calcium ion [GO:0051592]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to glucocorticoid [GO:0051384]; response to glucose [GO:0009749]; response to hydrogen peroxide [GO:0042542]; response to oleic acid [GO:0034201]; response to progesterone [GO:0032570]; response to testosterone [GO:0033574]; spermatogenesis [GO:0007283]; suppression by virus of host apoptotic process [GO:0019050]; type B pancreatic cell proliferation [GO:0044342]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane. Cytoplasm {ECO:0000250|UniProtKB:Q61337}. Note=Colocalizes with HIF3A in the cytoplasm (By similarity). Upon phosphorylation, locates to the cytoplasm. {ECO:0000250|UniProtKB:Q61337}.


uniprotID: Q13829
geneSymbol: TNFAIP1
length: 316
go: ENSG00000109079;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Endosome. Note=Colocalizes with RHOB in endosomes.
name:
BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 (hBACURD2) (BTB/POZ domain-containing protein TNFAIP1) (Protein B12) (Tumor necrosis factor, alpha-induced protein 1, endothelial)

sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; endosome [GO:0005768]; nucleolus [GO:0005730]; GTP-Rho binding [GO:0017049]; identical protein binding [GO:0042802]; protein domain specific binding [GO:0019904]; apoptotic process [GO:0006915]; cell migration [GO:0016477]; DNA replication [GO:0006260]; immune response [GO:0006955]; negative regulation of Rho protein signal transduction [GO:0035024]; positive regulation of DNA replication [GO:0045740]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein homooligomerization [GO:0051260]; protein ubiquitination [GO:0016567]; stress fiber assembly [GO:0043149]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13829-1; Sequence=Displayed; Name=2; IsoId=Q13829-2; Sequence=VSP_056029; Note=No experimental confirmation available.; 


uniprotID: Q99933
geneSymbol: BAG1
reactome: R-HSA-3371453;
name: BAG family molecular chaperone regulator 1 (BAG-1) (Bcl-2-associated athanogene 1)
length: 345
go: ENSG00000107262;
pdb:
1HX1;1WXV;3FZF;3FZH;3FZK;3FZL;3FZM;3LDQ;3M3Z;5AQF;5AQG;5AQH;5AQI;5AQJ;5AQK;5AQL;5AQM;5AQN;5AQO;5AQP;5AQQ;5AQR;5AQS;5AQT;5AQU;5AQV;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; adenyl-nucleotide exchange factor activity [GO:0000774]; chaperone binding [GO:0051087]; ubiquitin protein ligase binding [GO:0031625]; apoptotic process [GO:0006915]; cell surface receptor signaling pathway [GO:0007166]; chaperone cofactor-dependent protein refolding [GO:0051085]; negative regulation of apoptotic process [GO:0043066]; regulation of cellular response to heat [GO:1900034]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=1; Synonyms=BAG-1L, p50; IsoId=Q99933-1; Sequence=Displayed; Name=2; Synonyms=BAG1V, HAPV; IsoId=Q99933-2; Sequence=VSP_000453; Note=Produced by alternative splicing.; Name=3; Synonyms=BAG-1M, RAP46; IsoId=Q99933-3; Sequence=VSP_038395; Note=Produced by alternative initiation at Met-72 of isoform 1.; Name=4; Synonyms=BAG-1, p32; IsoId=Q99933-4; Sequence=VSP_038394; Note=Produced by alternative initiation at Met-116 of isoform 1.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus. Cytoplasm. Note=Isoform 1 localizes predominantly to the nucleus.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus. Note=Isoform 2 localizes to the cytoplasm and shuttles into the nucleus in response to heat shock.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm. Nucleus. Note=Isoform 4 localizes predominantly to the cytoplasm. The cellular background in which it is expressed can influence whether it resides primarily in the cytoplasm or is also found in the nucleus. In the presence of BCL2, localizes to intracellular membranes (what appears to be the nuclear envelope and perinuclear membranes) as well as punctate cytosolic structures suggestive of mitochondria.


uniprotID: P56817
geneSymbol: BACE1
reactome: R-HSA-977225;
length: 501
go: ENSG00000186318;
snps: rs28989503 rs539765
pdb:
1FKN;1M4H;1PY1;1SGZ;1TQF;1UJJ;1UJK;1W50;1W51;1XN2;1XN3;1XS7;1YM2;1YM4;2B8L;2B8V;2F3E;2F3F;2FDP;2G94;2HIZ;2HM1;2IQG;2IRZ;2IS0;2NTR;2OAH;2OF0;2OHK;2OHL;2OHM;2OHN;2OHP;2OHQ;2OHR;2OHS;2OHT;2OHU;2P4J;2P83;2P8H;2PH6;2PH8;2Q11;2Q15;2QK5;2QMD;2QMF;2QMG;2QP8;2QU2;2QU3;2QZK;2QZL;2VA5;2VA6;2VA7;2VIE;2VIJ;2VIY;2VIZ;2VJ6;2VJ7;2VJ9;2VKM;2VNM;2VNN;2WEZ;2WF0;2WF1;2WF2;2WF3;2WF4;2WJO;2XFI;2XFJ;2XFK;2ZDZ;2ZE1;2ZHR;2ZHS;2ZHT;2ZHU;2ZHV;2ZJH;2ZJI;2ZJJ;2ZJK;2ZJL;2ZJM;2ZJN;3BRA;3BUF;3BUG;3BUH;3CIB;3CIC;3CID;3CKP;3CKR;3DM6;3DUY;3DV1;3DV5;3EXO;3FKT;3H0B;3HVG;3HW1;3I25;3IGB;3IN3;3IN4;3IND;3INE;3INF;3INH;3IVH;3IVI;3IXJ;3IXK;3K5C;3K5D;3K5F;3K5G;3KMX;3KMY;3KN0;3KYR;3L38;3L3A;3L58;3L59;3L5B;3L5C;3L5D;3L5E;3L5F;3LHG;3LNK;3LPI;3LPJ;3LPK;3MSJ;3MSK;3MSL;3N4L;3NSH;3OHF;3OHH;3OOZ;3PI5;3QBH;3QI1;3R1G;3R2F;3RSV;3RSX;3RTH;3RTM;3RTN;3RU1;3RVI;3S2O;3S7L;3S7M;3SKF;3SKG;3TPJ;3TPL;3TPP;3TPR;3U6A;3UDH;3UDJ;3UDK;3UDM;3UDN;3UDP;3UDQ;3UDR;3UDY;3UFL;3UQP;3UQR;3UQU;3UQW;3UQX;3VEU;3VF3;3VG1;3VV6;3VV7;3VV8;3WB4;3WB5;3ZMG;3ZOV;4ACU;4ACX;4AZY;4B00;4B05;4B0Q;4B1C;4B1D;4B1E;4B70;4B72;4B77;4B78;4BEK;4BFD;4D83;4D85;4D88;4D89;4D8C;4DH6;4DI2;4DJU;4DJV;4DJW;4DJX;4DJY;4DPF;4DPI;4DUS;4DV9;4DVF;4EWO;4EXG;4FCO;4FGX;4FM7;4FM8;4FRI;4FRJ;4FRK;4FRS;4FS4;4FSE;4FSL;4GID;4GMI;4H1E;4H3F;4H3G;4H3I;4H3J;4HA5;4HZT;4I0D;4I0E;4I0F;4I0G;4I0H;4I0I;4I0J;4I0Z;4I10;4I11;4I12;4I1C;4IVS;4IVT;4J0P;4J0T;4J0V;4J0Y;4J0Z;4J17;4J1C;4J1E;4J1F;4J1H;4J1I;4J1K;4JOO;4JP9;4JPC;4JPE;4K8S;4K9H;4KE0;4KE1;4L7G;4L7H;4L7J;4LC7;4LXA;4LXK;4LXM;4N00;4PZW;4PZX;4R5N;4R8Y;4R91;4R92;4R93;4R95;4RCD;4RCE;4RCF;4RRN;4RRO;4RRS;4TRW;4TRY;4TRZ;4WTU;4WY1;4WY6;4X2L;4X7I;4XKX;4XXS;4YBI;4ZPE;4ZPF;4ZPG;4ZSM;4ZSP;4ZSQ;4ZSR;5CLM;5DQC;5ENK;5ENM;5EZX;5EZZ;5F00;5F01;5HD0;5HDU;5HDV;5HDX;5HDZ;5HE4;5HE5;5HE7;5HTZ;5HU0;5HU1;5I3V;5I3W;5I3X;5I3Y;5IE1;5KQF;5KR8;5MBW;5MCO;5MCQ;5MXD;5T1U;5T1W;5TOL;5UYU;5V0N;5YGX;5YGY;6BFD;6BFE;6BFW;6BFX;6C2I;6DHC;6EJ2;6EJ3;6EQM;6FGY;

name:
Beta-secretase 1 (EC 3.4.23.46) (Aspartyl protease 2) (ASP2) (Asp 2) (Beta-site amyloid precursor protein cleaving enzyme 1) (Beta-site APP cleaving enzyme 1) (Memapsin-2) (Membrane-associated aspartic protease 2)

sequence:

opentargets:
axon [GO:0030424]; cell surface [GO:0009986]; cytoplasmic vesicle membrane [GO:0030659]; dendrite [GO:0030425]; early endosome [GO:0005769]; endoplasmic reticulum lumen [GO:0005788]; endosome [GO:0005768]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; Golgi-associated vesicle lumen [GO:0070931]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; membrane [GO:0016020]; membrane raft [GO:0045121]; multivesicular body [GO:0005771]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; synaptic vesicle [GO:0008021]; trans-Golgi network [GO:0005802]; amyloid-beta binding [GO:0001540]; aspartic-type endopeptidase activity [GO:0004190]; beta-aspartyl-peptidase activity [GO:0008798]; enzyme binding [GO:0019899]; peptidase activity [GO:0008233]; amyloid-beta metabolic process [GO:0050435]; cellular protein metabolic process [GO:0044267]; cellular response to amyloid-beta [GO:1904646]; cellular response to copper ion [GO:0071280]; cellular response to manganese ion [GO:0071287]; detection of mechanical stimulus involved in sensory perception of pain [GO:0050966]; membrane protein ectodomain proteolysis [GO:0006509]; positive regulation of neuron apoptotic process [GO:0043525]; prepulse inhibition [GO:0060134]; protein catabolic process [GO:0030163]; proteolysis [GO:0006508]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to lead ion [GO:0010288]; response to radiation [GO:0009314]

drug:
DB07736;DB07737;DB07535;DB08749;DB07345;DB07346;DB07110;DB07415;DB07206;DB07245;DB06073;DB08929;DB02378;DB07734;DB07089;DB07175;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=A; Synonyms=BACE-1A, BAC-501; IsoId=P56817-1; Sequence=Displayed; Name=B; Synonyms=BACE-1B, BACE-I-476; IsoId=P56817-2; Sequence=VSP_005223; Name=C; Synonyms=BACE-1C, BACE-I-457; IsoId=P56817-3; Sequence=VSP_005222; Name=D; Synonyms=BACE-1D, BACE-I-432; IsoId=P56817-4; Sequence=VSP_005222, VSP_005223; Name=5; IsoId=P56817-5; Sequence=VSP_047092, VSP_047093; Note=Gene prediction based on EST data.; Name=6; IsoId=P56817-6; Sequence=VSP_047092, VSP_047093, VSP_005223; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:P56818}. Endoplasmic reticulum. Endosome {ECO:0000250|UniProtKB:P56818}. Cell surface. Cytoplasmic vesicle membrane. Membrane raft {ECO:0000250|UniProtKB:P56818}. Note=Predominantly localized to the later Golgi/trans-Golgi network (TGN) and minimally detectable in the early Golgi compartments. A small portion is also found in the endoplasmic reticulum, endosomes and on the cell surface.


uniprotID: O95429
geneSymbol: BAG4
reactome: R-HSA-3371453;R-HSA-5655302;R-HSA-75893;R-HSA-8853336;
pdb: 1M62;1M7K;
length: 457
go: ENSG00000156735;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
BAG family molecular chaperone regulator 4 (BAG-4) (Bcl-2-associated athanogene 4) (Silencer of death domains)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; adenyl-nucleotide exchange factor activity [GO:0000774]; chaperone binding [GO:0051087]; RNA binding [GO:0003723]; ubiquitin protein ligase binding [GO:0031625]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to tumor necrosis factor [GO:0071356]; negative regulation of apoptotic process [GO:0043066]; negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity [GO:2001145]; negative regulation of protein targeting to mitochondrion [GO:1903215]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell adhesion [GO:0045785]; positive regulation of fibroblast migration [GO:0010763]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of stress fiber assembly [GO:0051496]; protein folding [GO:0006457]; protein localization to plasma membrane [GO:0072659]; regulation of cellular response to heat [GO:1900034]; ruffle assembly [GO:0097178]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95429-1; Sequence=Displayed; Name=2; IsoId=O95429-2; Sequence=VSP_042741; Note=No experimental confirmation available.; 


uniprotID: Q13072
geneSymbol: BAGE
name: B melanoma antigen 1 (B melanoma antigen) (Antigen MZ2-BA) (Cancer/testis antigen 2.1) (CT2.1)
sequence: MAARAVFLALSAQLLQARLMKEESPVVSWRLEPEDGTALCFIF
length: 43
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=1;  Comment=At least 6 different mRNAs, BAGE1a, BAGE1b, BAGE1c, BAGE1d, BAGE1e and BAGE1f, are produced by alternative splicing. They differ in the 3' region, but give rise to the same protein sequence. {ECO:0000269|PubMed:12461691}; Name=1; Synonyms=BAGE1a; IsoId=Q13072-1; Sequence=Displayed; 


uniprotID: Q86Y30
geneSymbol: BAGE2
name: B melanoma antigen 2 (Cancer/testis antigen 2.2) (CT2.2)
length: 109
opentargets: extracellular region [GO:0005576]
snps: rs2740327 rs9808647
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MAAGVVFLALSAQLLQARLMKEESPVVSWRLEPEDGTALDVHFVSTLEPLSNAVKRNVPRCIIILVLQEPTAFRISVTSSCFVQNTLTKLLKDRRKMQTVQCATARETS


uniprotID: Q86Y29
geneSymbol: BAGE3
name: B melanoma antigen 3 (Cancer/testis antigen 2.3) (CT2.3)
length: 109
opentargets: extracellular region [GO:0005576]
snps: rs2740327 rs9808647
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MAAGVVFLALSAQLLQARLMKEESPVVSWRLEPEDGTALDVHFVSTLEPLSNAVKRNVPRCIIILVLQEPTPFRISVTSSCFVQNTLTKLLKDRRKMQTVQCATAQETS


uniprotID: Q9P281
geneSymbol: BAHCC1
length: 2639
go: ENSG00000266074;
opentargets: chromatin binding [GO:0003682]
snps: rs12952981 rs7213444 rs35572189 rs12601317 rs34680524 rs8746
name:
BAH and coiled-coil domain-containing protein 1 (Bromo adjacent homology domain-containing protein 2) (BAH domain-containing protein 2)

sequence:


uniprotID: Q8TBE0
geneSymbol: BAHD1
name: Bromo adjacent homology domain-containing 1 protein (BAH domain-containing protein 1)
length: 780
go: ENSG00000140320;
snps: rs3743143 rs17856679 rs3803357
sequence:

opentargets:
chromatin silencing complex [GO:0005677]; chromosome [GO:0005694]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; heterochromatin assembly [GO:0031507]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TBE0-1; Sequence=Displayed; Name=2; IsoId=Q8TBE0-2; Sequence=VSP_025623; Name=3; IsoId=Q8TBE0-3; Sequence=VSP_025624; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19666599}. Chromosome {ECO:0000269|PubMed:19666599}. Note=Localizes to heterochromatin and inactive X chromosome. Colocalizes with histone H3 trimethylated at 'Lys-27' (H3K27me3).


uniprotID: Q86X52
geneSymbol: CHSY1
reactome: R-HSA-2022870;R-HSA-3595177;
length: 802
go: ENSG00000131873;
snps: rs3743193 rs387906985 rs4426333
name:
Chondroitin sulfate synthase 1 (EC 2.4.1.175) (EC 2.4.1.226) (Chondroitin glucuronyltransferase 1) (Chondroitin synthase 1) (ChSy-1) (Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1) (N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1) (N-acetylgalactosaminyltransferase 1)

sequence:

opentargets:
extracellular region [GO:0005576]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity [GO:0047238]; metal ion binding [GO:0046872]; N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity [GO:0050510]; bone morphogenesis [GO:0060349]; chondrocyte development [GO:0002063]; chondroitin sulfate biosynthetic process [GO:0030206]; negative regulation of ossification [GO:0030279]; positive regulation of smoothened signaling pathway [GO:0045880]; proximal/distal pattern formation [GO:0009954]; response to nutrient levels [GO:0031667]; sulfation [GO:0051923]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000305|PubMed:11514575}; Single-pass type II membrane protein {ECO:0000305|PubMed:11514575}. Secreted {ECO:0000269|PubMed:21129727}.


uniprotID: Q8IZ52
geneSymbol: CHPF
reactome: R-HSA-2022870;
length: 775
go: ENSG00000123989;
snps: rs6436155
name:
Chondroitin sulfate synthase 2 (EC 2.4.1.175) (EC 2.4.1.226) (Chondroitin glucuronyltransferase 2) (Chondroitin-polymerizing factor) (ChPF) (Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II) (N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II) (N-acetylgalactosaminyltransferase 2)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; mitochondrial matrix [GO:0005759]; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity [GO:0047238]; metal ion binding [GO:0046872]; N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity [GO:0050510]; chondroitin sulfate biosynthetic process [GO:0030206]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IZ52-1; Sequence=Displayed; Name=2; Synonyms=Klokin1; IsoId=Q8IZ52-2; Sequence=VSP_053433; Name=3; Synonyms=ChPF(D996); IsoId=Q8IZ52-4; Sequence=VSP_053434; 

location:
SUBCELLULAR LOCATION: Isoform 1: Golgi apparatus, Golgi stack membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Cytoplasm, cytosol {ECO:0000269|PubMed:22082830}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, cytosol {ECO:0000269|PubMed:22082830}. Mitochondrion {ECO:0000269|PubMed:22082830}.; SUBCELLULAR LOCATION: Isoform 2: Mitochondrion matrix {ECO:0000269|PubMed:22082830}.


uniprotID: Q8NDB2
geneSymbol: BANK1
name: B-cell scaffold protein with ankyrin repeats
length: 785
go: ENSG00000153064;
snps: rs10516487 rs3733197 rs3113676
sequence:

opentargets:
protein tyrosine kinase binding [GO:1990782]; signaling receptor binding [GO:0005102]; B cell activation [GO:0042113]; negative regulation of B cell activation [GO:0050869]; negative regulation of interleukin-6 secretion [GO:1900165]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of translational initiation [GO:0045947]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NDB2-1; Sequence=Displayed; Name=2; IsoId=Q8NDB2-2; Sequence=VSP_020804, VSP_020805; Note=No experimental confirmation available.; Name=3; IsoId=Q8NDB2-3; Sequence=VSP_020803; Name=4; Synonyms=delta2; IsoId=Q8NDB2-4; Sequence=VSP_034214; 


uniprotID: Q9Y4C5
geneSymbol: CHST2
reactome: R-HSA-2022854;
length: 530
go: ENSG00000175040;
name:
Carbohydrate sulfotransferase 2 (EC 2.8.2.-) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 2) (GST-2) (N-acetylglucosamine 6-O-sulfotransferase 1) (GlcNAc6ST-1) (Gn6ST-1)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intrinsic component of Golgi membrane [GO:0031228]; trans-Golgi network [GO:0005802]; N-acetylglucosamine 6-O-sulfotransferase activity [GO:0001517]; sulfotransferase activity [GO:0008146]; carbohydrate metabolic process [GO:0005975]; inflammatory response [GO:0006954]; keratan sulfate biosynthetic process [GO:0018146]; multicellular organism development [GO:0007275]; N-acetylglucosamine metabolic process [GO:0006044]; sulfur compound metabolic process [GO:0006790]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=Q9Y4C5-1; Sequence=Displayed; Name=2; IsoId=Q9Y4C5-2; Sequence=VSP_018887; Note=Higher levels of expression compared to isoform 1 when expressed in HeLa cells. Exhibits similar intracellular GlcNAc-6-O-sulfation activity.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:12855678, ECO:0000269|PubMed:22260995}; Single-pass type II membrane protein {ECO:0000269|PubMed:12855678, ECO:0000269|PubMed:22260995}.


uniprotID: Q7LGC8
geneSymbol: CHST3
reactome: R-HSA-2022870;R-HSA-3595172;
length: 479
go: ENSG00000122863;
snps: rs121908617 rs121908616 rs28937593 rs121908618 rs3740128 rs3740129 rs267606734
name:
Carbohydrate sulfotransferase 3 (EC 2.8.2.17) (Chondroitin 6-O-sulfotransferase 1) (C6ST-1) (Chondroitin 6-sulfotransferase) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0) (GST-0)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; trans-Golgi network [GO:0005802]; chondroitin 6-sulfotransferase activity [GO:0008459]; N-acetylglucosamine 6-O-sulfotransferase activity [GO:0001517]; sulfotransferase activity [GO:0008146]; carbohydrate metabolic process [GO:0005975]; chondroitin sulfate biosynthetic process [GO:0030206]; N-acetylglucosamine metabolic process [GO:0006044]; sulfur compound metabolic process [GO:0006790]


uniprotID: Q8IXM2
geneSymbol: BAP18
name: Chromatin complexes subunit BAP18 (BPTF-associated protein of 18 kDa)
length: 172
go: ENSG00000258315;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:
MTSASTKVGEIFSAAGAAFTKLGELTMQLHPVADSSPAGAKWTETEIEMLRAAVKRFGDDLNHISCVIKERTVAQIKATVKRKVYEDSGIPLPAESPKKGPKKVASGVLSPPPAAPPPSSSSVPEAGGPPIKKQKADVTLSALNDSDANSDVVDIEGLGETPPAKKLNFDQA

opentargets:
cytosol [GO:0005829]; MLL1 complex [GO:0071339]; nucleoplasm [GO:0005654]; NURF complex [GO:0016589]; DNA binding [GO:0003677]; chromatin organization [GO:0006325]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IXM2-1; Sequence=Displayed; Name=2; IsoId=Q8IXM2-2; Sequence=VSP_043754; Note=No experimental confirmation available.; Name=3; IsoId=Q8IXM2-3; Sequence=VSP_047095; Note=Gene prediction based on EST data.; 


uniprotID: Q9GZX3
geneSymbol: CHST6
reactome: R-HSA-2022854;R-HSA-3656225;
length: 395
go: ENSG00000183196;
name:
Carbohydrate sulfotransferase 6 (EC 2.8.2.-) (Corneal N-acetylglucosamine-6-O-sulfotransferase) (C-GlcNAc6ST) (hCGn6ST) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta) (GST4-beta) (N-acetylglucosamine 6-O-sulfotransferase 5) (GlcNAc6ST-5) (Gn6st-5)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; trans-Golgi network [GO:0005802]; N-acetylglucosamine 6-O-sulfotransferase activity [GO:0001517]; carbohydrate metabolic process [GO:0005975]; keratan sulfate biosynthetic process [GO:0018146]; N-acetylglucosamine metabolic process [GO:0006044]; sulfur compound metabolic process [GO:0006790]

snps:
rs68043642 rs72547549 rs28937877 rs370335460 rs72547548 rs72547547 rs775742450 rs377617168 rs72547546 rs121917822 rs72547545 rs72547544 rs1265310255 rs758105699 rs72547543 rs142954809 rs117435647 rs72547542 rs28937877 rs376162109 rs28937879 rs28937878 rs759870075 rs377706989 rs750219546 rs374493344 rs745571211 rs771397083 rs202175444 rs752785520 rs72547540 rs72547539 rs72547538 rs121917824 rs1384294258 rs35036798 


uniprotID: Q9NS84
geneSymbol: CHST7
reactome: R-HSA-2022870;
length: 486
go: ENSG00000147119;
name:
Carbohydrate sulfotransferase 7 (EC 2.8.2.-) (EC 2.8.2.17) (Chondroitin 6-sulfotransferase 2) (C6ST-2) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 5) (GST-5) (N-acetylglucosamine 6-O-sulfotransferase 4) (GlcNAc6ST-4) (Gn6st-4)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; trans-Golgi network [GO:0005802]; chondroitin 6-sulfotransferase activity [GO:0008459]; N-acetylglucosamine 6-O-sulfotransferase activity [GO:0001517]; chondroitin sulfate biosynthetic process [GO:0030206]; N-acetylglucosamine metabolic process [GO:0006044]; polysaccharide metabolic process [GO:0005976]; sulfur compound metabolic process [GO:0006790]


uniprotID: Q7L1S5
geneSymbol: CHST9
reactome: R-HSA-2022870;
length: 443
go: ENSG00000154080;
snps: rs17694469 rs758130927
name:
Carbohydrate sulfotransferase 9 (EC 2.8.2.-) (GalNAc-4-O-sulfotransferase 2) (GalNAc-4-ST2) (GalNAc4ST-2) (N-acetylgalactosamine-4-O-sulfotransferase 2)

sequence:

opentargets:
extracellular region [GO:0005576]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; chondroitin 4-sulfotransferase activity [GO:0047756]; N-acetylgalactosamine 4-O-sulfotransferase activity [GO:0001537]; carbohydrate biosynthetic process [GO:0016051]; chondroitin sulfate biosynthetic process [GO:0030206]; glycosaminoglycan metabolic process [GO:0030203]; hormone biosynthetic process [GO:0042446]; proteoglycan biosynthetic process [GO:0030166]; sulfur compound metabolic process [GO:0006790]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L1S5-1; Sequence=Displayed; Name=2; IsoId=Q7L1S5-2; Sequence=VSP_043865, VSP_043866; 

location:
SUBCELLULAR LOCATION: Isoform 1: Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: O43529
geneSymbol: CHST10
reactome: R-HSA-975578;
length: 356
go: ENSG00000115526;
snps: rs35177621 rs3748932
name:
Carbohydrate sulfotransferase 10 (EC 2.8.2.-) (HNK-1 sulfotransferase) (HNK-1ST) (HNK1ST) (HuHNK-1ST)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; HNK-1 sulfotransferase activity [GO:0016232]; sulfotransferase activity [GO:0008146]; carbohydrate biosynthetic process [GO:0016051]; cell adhesion [GO:0007155]


uniprotID: Q9NPF2
geneSymbol: CHST11
reactome: R-HSA-2022870;
length: 352
go: ENSG00000171310;
name:
Carbohydrate sulfotransferase 11 (EC 2.8.2.5) (Chondroitin 4-O-sulfotransferase 1) (Chondroitin 4-sulfotransferase 1) (C4S-1) (C4ST-1) (C4ST1)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; chondroitin 4-sulfotransferase activity [GO:0047756]; N-acetylgalactosamine 4-O-sulfotransferase activity [GO:0001537]; N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity [GO:0050659]; carbohydrate biosynthetic process [GO:0016051]; chondrocyte development [GO:0002063]; chondroitin sulfate biosynthetic process [GO:0030206]; developmental growth [GO:0048589]; embryonic digit morphogenesis [GO:0042733]; embryonic viscerocranium morphogenesis [GO:0048703]; negative regulation of apoptotic process [GO:0043066]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; polysaccharide localization [GO:0033037]; post-anal tail morphogenesis [GO:0036342]; post-embryonic development [GO:0009791]; regulation of cell proliferation [GO:0042127]; respiratory gaseous exchange [GO:0007585]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPF2-1; Sequence=Displayed; Name=2; Synonyms=C4S-1A; IsoId=Q9NPF2-2; Sequence=VSP_012992; 


uniprotID: Q9UHQ4
geneSymbol: BCAP29
pdb: 4W7Y;4W7Z;4W80;
name: B-cell receptor-associated protein 29 (BCR-associated protein 29) (Bap29)
length: 241
go: ENSG00000075790;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; apoptotic process [GO:0006915]; ER to Golgi vesicle-mediated transport [GO:0006888]; intracellular protein transport [GO:0006886]; osteoblast differentiation [GO:0001649]; protein localization to endoplasmic reticulum exit site [GO:0070973]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UHQ4-1; Sequence=Displayed; Name=2; IsoId=Q9UHQ4-2; Sequence=VSP_047096; Note=Gene prediction based on EST data.; 


uniprotID: Q9NRB3
geneSymbol: CHST12
reactome: R-HSA-2022870;
length: 414
go: ENSG00000136213;
snps: rs3735099 rs3735100 rs12536223 rs17132395 rs17132399
name:
Carbohydrate sulfotransferase 12 (EC 2.8.2.5) (Chondroitin 4-O-sulfotransferase 2) (Chondroitin 4-sulfotransferase 2) (C4ST-2) (C4ST2) (Sulfotransferase Hlo)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; membrane [GO:0016020]; 3'-phosphoadenosine 5'-phosphosulfate binding [GO:0050656]; chondroitin 4-sulfotransferase activity [GO:0047756]; carbohydrate biosynthetic process [GO:0016051]; chondroitin sulfate biosynthetic process [GO:0030206]; dermatan sulfate biosynthetic process [GO:0030208]


uniprotID: P51572
geneSymbol: BCAP31
reactome: R-HSA-111465;R-HSA-75153;R-HSA-983170;
pdb: 4JZL;4JZP;
length: 246
go: ENSG00000185825;
name:
B-cell receptor-associated protein 31 (BCR-associated protein 31) (Bap31) (6C6-AG tumor-associated antigen) (Protein CDM) (p28)

sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; Golgi cisterna membrane [GO:0032580]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; lipid droplet [GO:0005811]; membrane [GO:0016020]; mitochondrion [GO:0005739]; perinuclear endoplasmic reticulum [GO:0097038]; MHC class I protein binding [GO:0042288]; protein-containing complex binding [GO:0044877]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; apoptotic process [GO:0006915]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; ER to Golgi vesicle-mediated transport [GO:0006888]; intracellular protein transport [GO:0006886]; negative regulation of endoplasmic reticulum calcium ion concentration [GO:0032471]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ER-associated ubiquitin-dependent protein catabolic process [GO:1903071]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of mitochondrial calcium ion concentration [GO:0051561]; positive regulation of retrograde protein transport, ER to cytosol [GO:1904154]; protein localization to endoplasmic reticulum exit site [GO:0070973]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51572-1; Sequence=Displayed; Name=2; IsoId=P51572-2; Sequence=VSP_043116; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:9334338, ECO:0000269|PubMed:9396746}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:11042173, ECO:0000269|PubMed:9396746}; Multi-pass membrane protein {ECO:0000255}. Note=May shuttle between the ER and the intermediate compartment/cis-Golgi complex. {ECO:0000269|PubMed:9396746}.


uniprotID: Q99728
geneSymbol: BARD1
pdb: 1JM7;2NTE;2R1Z;3C5R;3FA2;
length: 777
go: ENSG00000138376;
reactome:
R-HSA-5685938;R-HSA-5685942;R-HSA-5689603;R-HSA-5689901;R-HSA-5693554;R-HSA-5693565;R-HSA-5693568;R-HSA-5693571;R-HSA-5693579;R-HSA-5693607;R-HSA-5693616;R-HSA-6804756;R-HSA-69473;

name:
BRCA1-associated RING domain protein 1 (BARD-1) (EC 2.3.2.27) (RING-type E3 ubiquitin transferase BARD1)

sequence:

opentargets:
BRCA1-A complex [GO:0070531]; BRCA1-BARD1 complex [GO:0031436]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; kinase binding [GO:0019900]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; ubiquitin-protein transferase activity [GO:0004842]; cell cycle arrest [GO:0007050]; cellular response to DNA damage stimulus [GO:0006974]; DNA double-strand break processing [GO:0000729]; DNA replication [GO:0006260]; double-strand break repair via nonhomologous end joining [GO:0006303]; negative regulation of apoptotic process [GO:0043066]; negative regulation of mRNA 3'-end processing [GO:0031441]; negative regulation of protein export from nucleus [GO:0046826]; positive regulation of apoptotic process [GO:0043065]; positive regulation of protein catabolic process [GO:0045732]; protein deubiquitination [GO:0016579]; protein K6-linked ubiquitination [GO:0085020]; protein ubiquitination [GO:0016567]; regulation of phosphorylation [GO:0042325]; tissue homeostasis [GO:0001894]

snps:
rs1048108 rs753377280 rs16852741 rs3738885 rs2229571 rs2070094 rs28997576 rs2228456 rs3738888 rs111367604 rs13389423 rs142155101 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=FL; IsoId=Q99728-1; Sequence=Displayed; Name=alpha; IsoId=Q99728-2; Sequence=VSP_055876; Name=beta; IsoId=Q99728-3; Sequence=VSP_055874, VSP_055875; Name=gamma; IsoId=Q99728-4; Sequence=VSP_055877, VSP_055878; 

location:
SUBCELLULAR LOCATION: Nucleus. Note=During S phase of the cell cycle, colocalizes with BRCA1 into discrete subnuclear foci. Can translocate to the cytoplasm. Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex.


uniprotID: Q8WUH1
geneSymbol: CHURC1
pdb: 2JOX;
name: Protein Churchill
length: 139
go: ENSG00000258289;
sequence:
MRQPYLSSREVSSSRKRWRTFPVDCVAMCGDCVEKEYPNRGNTCLENGSFLLNFTGCAVCSKRDFMLITNKSLKEEDGEEIVTYDHLCKNCHHVIARHEYTFSIMDEFQEYTMLCLLCGKAEDTISILPDDPRQMTLLF

opentargets:
zinc ion binding [GO:0008270]; multicellular organism development [GO:0007275]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WUH1-1; Sequence=Displayed; Name=2; IsoId=Q8WUH1-2; Sequence=VSP_021021; Note=No experimental confirmation available.; Name=3; IsoId=Q8WUH1-3; Sequence=VSP_046509; 


uniprotID: Q8N1L9
geneSymbol: BATF2
length: 274
go: ENSG00000168062;
snps: rs12419103
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978}.
name:
Basic leucine zipper transcriptional factor ATF-like 2 (B-ATF-2) (Suppressor of AP-1 regulated by IFN) (SARI)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; defense response to protozoan [GO:0042832]; myeloid dendritic cell differentiation [GO:0043011]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N1L9-1; Sequence=Displayed; Name=2; IsoId=Q8N1L9-2; Sequence=VSP_025752; 


uniprotID: Q9BXH1
geneSymbol: BBC3
reactome: R-HSA-111453;R-HSA-139915;R-HSA-6803204;
pdb: 2M04;4BPI;4BPJ;4BPK;4HNJ;5UUL;
name: Bcl-2-binding component 3 (JFY-1) (p53 up-regulated modulator of apoptosis)
length: 193
go: ENSG00000105327;
sequence:
MARARQEGSSPEPVEGLARDGPRPFPLGRLVPSAVSCGLCEPGLAAAPAAPTLLPAAYLCAPTAPPAVTAALGGSRWPGGPRSRPRGPRPDGPQPSLSLAEQHLESPVPSAPGALAGGPTQAAPGVRGEEEQWAREIGAQLRRMADDLNAQYERRRQEEQQRHRPSPWRVLYNLIMGLLPLPRGHRAPEMEPN

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic signaling pathway [GO:0097190]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to hypoxia [GO:0071456]; determination of adult lifespan [GO:0008340]; execution phase of apoptosis [GO:0097194]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; negative regulation of endoplasmic reticulum calcium ion concentration [GO:0032471]; negative regulation of growth [GO:0045926]; positive regulation of cysteine-type endopeptidase activity [GO:2001056]; positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902237]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of IRE1-mediated unfolded protein response [GO:1903896]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of protein homooligomerization [GO:0032464]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; positive regulation of thymocyte apoptotic process [GO:0070245]; protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:0001844]; regulation of apoptotic process [GO:0042981]; release of cytochrome c from mitochondria [GO:0001836]; release of sequestered calcium ion into cytosol [GO:0051209]; response to endoplasmic reticulum stress [GO:0034976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=PUMA alpha; IsoId=Q9BXH1-1; Sequence=Displayed; Name=2; Synonyms=PUMA beta; IsoId=Q9BXH1-2; Sequence=VSP_012238; Name=3; Synonyms=PUMA delta; IsoId=Q96PG8-1; Sequence=External; Name=4; Synonyms=PUMA gamma; IsoId=Q96PG8-2; Sequence=External; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11463391, ECO:0000269|PubMed:11463392, ECO:0000269|PubMed:11572983}. Note=Localized to the mitochondria in order to induce cytochrome c release.


uniprotID: Q9NRL2
geneSymbol: BAZ1A
pdb: 5UIY;
length: 1556
go: ENSG00000198604;
snps: rs1133285 rs1044140
location: SUBCELLULAR LOCATION: Nucleus. Note=May target the CHRAC complex to heterochromatin.
name:
Bromodomain adjacent to zinc finger domain protein 1A (ATP-dependent chromatin-remodeling protein) (ATP-utilizing chromatin assembly and remodeling factor 1) (hACF1) (CHRAC subunit ACF1) (Williams syndrome transcription factor-related chromatin-remodeling factor 180) (WCRF180) (hWALp1)

sequence:

opentargets:
ACF complex [GO:0016590]; CHRAC [GO:0008623]; metal ion binding [GO:0046872]; chromatin remodeling [GO:0006338]; DNA-dependent DNA replication [GO:0006261]; histone acetylation [GO:0016573]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRL2-1; Sequence=Displayed; Name=2; IsoId=Q9NRL2-2; Sequence=VSP_000551; 


uniprotID: Q8TAL5
geneSymbol: C9orf43
name: Uncharacterized protein C9orf43
length: 461
go: ENSG00000157653;
snps: rs41313331
sequence:


uniprotID: Q9UIF9
geneSymbol: BAZ2A
reactome: R-HSA-427413;
length: 1905
go: ENSG00000076108;
snps: rs2230579
pdb:
4LZ2;4Q6F;4QBM;4QF2;5AGQ;5MGJ;5MGK;5MGL;5MGM;5OR8;5T8R;6FAP;6FG6;6FGF;6FGG;6FGH;6FGI;6FGL;6FGV;6FGW;6FHU;6FI0;6FKP;

name:
Bromodomain adjacent to zinc finger domain protein 2A (Transcription termination factor I-interacting protein 5) (TTF-I-interacting protein 5) (Tip5) (hWALp3)

sequence:

opentargets:
chromatin silencing complex [GO:0005677]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; rDNA heterochromatin [GO:0033553]; histone binding [GO:0042393]; lysine-acetylated histone binding [GO:0070577]; metal ion binding [GO:0046872]; nuclear receptor binding [GO:0016922]; RNA binding [GO:0003723]; RNA polymerase I CORE element sequence-specific DNA binding [GO:0001164]; chromatin remodeling [GO:0006338]; chromatin silencing at rDNA [GO:0000183]; DNA methylation [GO:0006306]; histone deacetylation [GO:0016575]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=Q9UIF9-1; Sequence=Displayed; Name=1; IsoId=Q9UIF9-2; Sequence=VSP_037960, VSP_019111; Note=No experimental confirmation available.; Name=3; IsoId=Q9UIF9-3; Sequence=VSP_037961; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}. Note=Colocalizes with the basal RNA polymerase I transcription factor UBF in the nucleolus. {ECO:0000250}.


uniprotID: Q96MD7
geneSymbol: C9orf85
name: Uncharacterized protein C9orf85
length: 179
go: ENSG00000155621;
sequence:
MSSQKGNVARSRPQKHQNTFSFKNDKFDKSVQTKKINAKLHDGVCQRCKEVLEWRVKYSKYKPLSKPKKCVKCLQKTVKDSYHIMCRPCACELEVCAKCGKKEDIVIPWSLPLLPRLECSGRILAHHNLRLPCSSDSPASASRVAGTTGAHHHAQLIFVFLVEMGFHYVGQAGLELLTS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96MD7-3; Sequence=Displayed; Name=2; IsoId=Q96MD7-1; Sequence=VSP_014430; Name=3; IsoId=Q96MD7-2; Sequence=VSP_014428, VSP_014429; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q5T280
geneSymbol: SPOUT1
pdb: 4RG1;
length: 376
go: ENSG00000198917;
snps: rs34500948 rs6478854 rs2280843
name:
Putative methyltransferase C9orf114 (EC 2.1.1.-) (Centromere protein 32) (CENP-32) (Kinetochore-associated protein) (SPOUT domain-containing methyltransferase 1)

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; kinetochore [GO:0000776]; mitotic spindle [GO:0072686]; spindle pole centrosome [GO:0031616]; methyltransferase activity [GO:0008168]; miRNA binding [GO:0035198]; RNA binding [GO:0003723]; cell cycle [GO:0007049]; cell division [GO:0051301]; maintenance of centrosome location [GO:0051661]; posttranscriptional regulation of gene expression [GO:0010608]; production of miRNAs involved in gene silencing by miRNA [GO:0035196]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:25657325}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266, ECO:0000269|PubMed:25657325}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:25657325}. Note=Associated with the outer kinetochore. {ECO:0000269|PubMed:20813266}.


uniprotID: Q92667
geneSymbol: AKAP1
reactome: R-HSA-8949215;R-HSA-983231;
length: 903
go: ENSG00000121057;
snps: rs17761023 rs2230770 rs2230771 rs17833723
location: SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250|UniProtKB:O08715}.
name:
A-kinase anchor protein 1, mitochondrial (A-kinase anchor protein 149 kDa) (AKAP 149) (Dual specificity A-kinase-anchoring protein 1) (D-AKAP-1) (Protein kinase A-anchoring protein 1) (PRKA1) (Spermatid A-kinase anchor protein 84) (S-AKAP84)

sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; protein kinase A regulatory subunit binding [GO:0034237]; RNA binding [GO:0003723]; blood coagulation [GO:0007596]; regulation of protein kinase A signaling [GO:0010738]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=AKAP149; IsoId=Q92667-1; Sequence=Displayed; Name=2; Synonyms=S-AKAP84; IsoId=Q92667-2; Sequence=VSP_002845, VSP_002846; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: P20292
geneSymbol: ALOX5AP
reactome: R-HSA-2142688;R-HSA-2142691;R-HSA-2142700;
pdb: 2Q7M;2Q7R;
name: Arachidonate 5-lipoxygenase-activating protein (FLAP) (MK-886-binding protein)
length: 161
go: ENSG00000132965;
drug: DB05225;DB04929;
sequence:
MDQETVGNVVLLAIVTLISVVQNGFFAHKVEHESRTQNGRSFQRTGTLAFERVYTANQNCVDAYPTFLAVLWSAGLLCSQVPAAFAGLMYLFVRQKYFVGYLGERTQSTPGYIFGKRIILFLFLMSVAGIFNYYLIFFFGSDFENYIKTISTTISPLLLIP

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; arachidonic acid binding [GO:0050544]; enzyme activator activity [GO:0008047]; glutathione peroxidase activity [GO:0004602]; glutathione transferase activity [GO:0004364]; leukotriene-C4 synthase activity [GO:0004464]; protein N-terminus binding [GO:0047485]; cellular response to calcium ion [GO:0071277]; leukotriene biosynthetic process [GO:0019370]; protein homotrimerization [GO:0070207]

location:
SUBCELLULAR LOCATION: Nucleus membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.


uniprotID: O95626
geneSymbol: ANP32D
length: 131
go: ENSG00000139223;
snps: rs7956679
name:
Acidic leucine-rich nuclear phosphoprotein 32 family member D (Phosphoprotein 32-related protein 2) (Tumorigenic protein pp32r2)

sequence:
MEMGKWIHLELRNRTPSDVKELFLDNSQSNEGKLEGLTDEFEELELLNTINIGLTSIANLPKLNKLKKLELSSNRASVGLEVLAEKCPNLIHLNLSGNKIKDLSTIEPLKKLENLESLDLFTCEVTNLNNY

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


uniprotID: Q6ZTN6
geneSymbol: ANKRD13D
name: Ankyrin repeat domain-containing protein 13D
length: 518
go: ENSG00000172932;
opentargets: late endosome [GO:0005770]; plasma membrane [GO:0005886]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZTN6-1; Sequence=Displayed; Name=2; IsoId=Q6ZTN6-2; Sequence=VSP_019411, VSP_019412; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZTN6-3; Sequence=VSP_042047; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22298428}. Late endosome {ECO:0000269|PubMed:22298428}. Note=Interaction with EGFR may enhance association with the cell membrane.


uniprotID: Q9UJX6
geneSymbol: ANAPC2
pdb: 4UI9;4YII;5A31;5G04;5G05;5KHR;5KHU;5L9T;5L9U;5LCW;
name: Anaphase-promoting complex subunit 2 (APC2) (Cyclosome subunit 2)
length: 822
go: ENSG00000176248;
reactome:
R-HSA-141430;R-HSA-174048;R-HSA-174084;R-HSA-174154;R-HSA-174178;R-HSA-174184;R-HSA-176407;R-HSA-176408;R-HSA-176409;R-HSA-176412;R-HSA-179409;R-HSA-2467813;R-HSA-2559582;R-HSA-69017;R-HSA-983168;

sequence:

opentargets:
anaphase-promoting complex [GO:0005680]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; ubiquitin protein ligase binding [GO:0031625]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell cycle [GO:0007049]; cell division [GO:0051301]; positive regulation of axon extension [GO:0045773]; positive regulation of dendrite morphogenesis [GO:0050775]; positive regulation of synapse maturation [GO:0090129]; positive regulation of synaptic plasticity [GO:0031915]; protein K11-linked ubiquitination [GO:0070979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UJX6-1; Sequence=Displayed; Name=2; IsoId=Q9UJX6-2; Sequence=VSP_008463; Note=No experimental confirmation available.; 


uniprotID: O60678
geneSymbol: PRMT3
reactome: R-HSA-3214858;R-HSA-8876725;
pdb: 2FYT;3SMQ;4HSG;4QQN;4RYL;
length: 531
go: ENSG00000185238;
drug: DB01752;
snps: rs3758805 rs11025585 rs6483700
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Protein arginine N-methyltransferase 3 (EC 2.1.1.-) (Heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; histone-arginine N-methyltransferase activity [GO:0008469]; metal ion binding [GO:0046872]; methyltransferase activity [GO:0008168]; nucleic acid binding [GO:0003676]; protein-arginine N-methyltransferase activity [GO:0016274]; protein-arginine omega-N asymmetric methyltransferase activity [GO:0035242]; ribosome binding [GO:0043022]; histone arginine methylation [GO:0034969]; negative regulation of protein ubiquitination [GO:0031397]; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine [GO:0019919]; protein methylation [GO:0006479]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60678-1; Sequence=Displayed; Name=2; IsoId=O60678-2; Sequence=VSP_040330; 


uniprotID: Q6ZW76
geneSymbol: ANKS3
pdb: 4NJ8;4NL9;
name: Ankyrin repeat and SAM domain-containing protein 3
length: 656
go: ENSG00000168096;
snps: rs863980 rs9936675
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZW76-1; Sequence=Displayed; Name=2; IsoId=Q6ZW76-2; Sequence=VSP_038183; Note=No experimental confirmation available.; 


uniprotID: P47755
geneSymbol: CAPZA2
reactome: R-HSA-2132295;R-HSA-3371497;R-HSA-6807878;R-HSA-6811436;R-HSA-879415;R-HSA-983231;
name: F-actin-capping protein subunit alpha-2 (CapZ alpha-2)
length: 286
go: ENSG00000198898;
sequence:

opentargets:
actin cortical patch [GO:0030479]; actin cytoskeleton [GO:0015629]; brush border [GO:0005903]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; F-actin capping protein complex [GO:0008290]; membrane [GO:0016020]; actin filament binding [GO:0051015]; actin cytoskeleton organization [GO:0030036]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; barbed-end actin filament capping [GO:0051016]; blood coagulation [GO:0007596]; ER to Golgi vesicle-mediated transport [GO:0006888]; innate immune response [GO:0045087]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P47755-1; Sequence=Displayed; Name=2; IsoId=P47755-2; Sequence=VSP_053871, VSP_053872; Note=No experimental confirmation available.; 


uniprotID: Q8WU43
geneSymbol: C2orf15
name: Uncharacterized protein C2orf15
length: 125
go: ENSG00000273045;
opentargets: RNA binding [GO:0003723]
sequence:
MSSTLGKLSNQVEETLPLLKKVPANYFHICSAILMGFSLSKSATQVSAIHMDSKVDDHLIRGTEKSRLEPATQLFQNTKKIRLEDTNQENFTRIEGTGTGSLSGKALGSVVYVKESDGLEMTDVE


uniprotID: A6NJV1
geneSymbol: C2orf70
name: UPF0573 protein C2orf70
length: 201
go: ENSG00000173557;
opentargets: nucleus [GO:0005634]
snps: rs13002673 rs2272466
sequence:


uniprotID: A6NCS6
geneSymbol: C2orf72
name: Uncharacterized protein C2orf72
length: 295
go: ENSG00000204128;
sequence:


uniprotID: Q3KRA6
geneSymbol: C2orf76
name: UPF0538 protein C2orf76
length: 126
go: ENSG00000186132;
snps: rs1132267 rs1052500
sequence:
MAPGEVTITVRLIRSFEHRNFKPVVYHGVNLDQTVKEFIVFLKQDIPLRTNLPPPFRNYKYDALKIIHQAHKSKTNELVLSLEDDERLLLKEDSTLKAAGIASETEIAFFCEEDYKNYKANPISSW


uniprotID: A6NCI8
geneSymbol: C2orf78
name: Uncharacterized protein C2orf78
length: 922
go: ENSG00000187833;
sequence:


uniprotID: Q0P641
geneSymbol: C2orf80
name: Uncharacterized protein C2orf80
length: 193
go: ENSG00000188674;
snps: rs11898181 rs6435421 rs10804166
sequence:
MERRLIKKEMKKLLGDYIGIRLRENEFDPKGRRQLTFLDDMAHYDLAISVALQWLDPSEDLTWLEWEELKIPLHGRPIYPNRREREAMILSSYAGILMNSIPIEEVFKIYGADSSADSGTIKVPRVSSLCLSLHPFAMLTAPKAAAYARKQSVKSRKVTTNKNATSISAKEANATEWKSSQRFSDTQPKHKVT


uniprotID: Q6ZV80
geneSymbol: C2orf91
name: Uncharacterized protein C2orf91
length: 131
go: ENSG00000205086;
sequence:
MVRMSRPLFLDWAWRPLCSPSQSLPLTYGPEGWILQWKGTCRQQTALHCPFDFPQAPLRGRHTLSQVPNKGHEKASAVQLPEKQGTDQSRRGPTSAVTKARTSYPESETFIVYLCSYFWNSSKGVYMSGST


uniprotID: Q9NWB6
geneSymbol: ARGLU1
name: Arginine and glutamate-rich protein 1
length: 273
go: ENSG00000134884;
opentargets: mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; cadherin binding [GO:0045296]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NWB6-1; Sequence=Displayed; Name=2; IsoId=Q9NWB6-2; Sequence=VSP_025674; Note=No experimental confirmation available.; Name=3; IsoId=Q9NWB6-3; Sequence=VSP_053685, VSP_025674; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21454576}. Note=Recruited, in an estrogen-dependent manner, to ESR1 target gene promoters. Colocalizes with MED1.


uniprotID: Q92974
geneSymbol: ARHGEF2
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
pdb: 5EFX;
length: 986
go: ENSG00000116584;
name:
Rho guanine nucleotide exchange factor 2 (Guanine nucleotide exchange factor H1) (GEF-H1) (Microtubule-regulated Rho-GEF) (Proliferating cell nucleolar antigen p40)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendritic shaft [GO:0043198]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; neuronal cell body [GO:0043025]; podosome [GO:0002102]; postsynaptic density, intracellular component [GO:0099092]; protein-containing complex [GO:0032991]; ruffle membrane [GO:0032587]; spindle [GO:0005819]; vesicle [GO:0031982]; guanyl-nucleotide exchange factor activity [GO:0005085]; microtubule binding [GO:0008017]; Rac GTPase binding [GO:0048365]; Rac guanyl-nucleotide exchange factor activity [GO:0030676]; Rho GTPase binding [GO:0017048]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; actin filament organization [GO:0007015]; asymmetric neuroblast division [GO:0055059]; cell morphogenesis [GO:0000902]; cellular hyperosmotic response [GO:0071474]; cellular response to muramyl dipeptide [GO:0071225]; cellular response to tumor necrosis factor [GO:0071356]; establishment of mitotic spindle orientation [GO:0000132]; G protein-coupled receptor signaling pathway [GO:0007186]; innate immune response [GO:0045087]; intracellular protein transport [GO:0006886]; intracellular signal transduction [GO:0035556]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress [GO:1902219]; negative regulation of microtubule depolymerization [GO:0007026]; negative regulation of necroptotic process [GO:0060546]; negative regulation of neurogenesis [GO:0050768]; negative regulation of podosome assembly [GO:0071802]; positive regulation of apoptotic process [GO:0043065]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of neuron migration [GO:2001224]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; regulation of cell proliferation [GO:0042127]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92974-1; Sequence=Displayed; Name=2; IsoId=Q92974-2; Sequence=VSP_039458; Name=3; IsoId=Q92974-3; Sequence=VSP_039457, VSP_039458; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11912491, ECO:0000269|PubMed:21887730, ECO:0000269|PubMed:9857026}. Cytoplasm {ECO:0000269|PubMed:15827085, ECO:0000269|PubMed:21887730}. Cell junction, tight junction {ECO:0000269|PubMed:19043560}. Golgi apparatus {ECO:0000269|PubMed:15827085}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:17488622}. Cell projection, ruffle membrane {ECO:0000269|PubMed:19043560}. Cytoplasmic vesicle {ECO:0000269|PubMed:21887730}. Note=Localizes to the tips of cortical microtubules of the mitotic spindle during cell division, and is further released upon microtubule depolymerization (PubMed:15827085). Recruited into membrane ruffles induced by S.flexneri at tight junctions of polarized epithelial cells (PubMed:19043560). Colocalized with NOD2 and RIPK2 in vesicles and with the cytoskeleton (PubMed:21887730). {ECO:0000269|PubMed:15827085, ECO:0000269|PubMed:19043560, ECO:0000269|PubMed:21887730}.


uniprotID: Q9NR80
geneSymbol: ARHGEF4
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
pdb: 2DX1;2PZ1;3NMX;3NMZ;
length: 690
go: ENSG00000136002;
snps: rs10188052
name:
Rho guanine nucleotide exchange factor 4 (APC-stimulated guanine nucleotide exchange factor 1) (Asef) (Asef1)

sequence:

opentargets:
cytosol [GO:0005829]; ruffle membrane [GO:0032587]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein domain specific binding [GO:0019904]; Rac guanyl-nucleotide exchange factor activity [GO:0030676]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; filopodium assembly [GO:0046847]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; lamellipodium assembly [GO:0030032]; positive regulation of apoptotic process [GO:0043065]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NR80-1; Sequence=Displayed; Name=3; IsoId=Q9NR80-3; Sequence=VSP_011617, VSP_011618; Name=4; IsoId=Q9NR80-4; Sequence=VSP_037119; 

location:
SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Cell projection, ruffle membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Note=Associated with membrane ruffles. {ECO:0000305}.


uniprotID: Q15052
geneSymbol: ARHGEF6
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;R-HSA-446388;
pdb: 1UJY;1WYR;
length: 776
go: ENSG00000129675;
snps: rs5974620
location: SUBCELLULAR LOCATION: Cell projection, lamellipodium {ECO:0000250}.
name:
Rho guanine nucleotide exchange factor 6 (Alpha-Pix) (COOL-2) (PAK-interacting exchange factor alpha) (Rac/Cdc42 guanine nucleotide exchange factor 6)

sequence:

opentargets:
cytosol [GO:0005829]; lamellipodium [GO:0030027]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; apoptotic process [GO:0006915]; G protein-coupled receptor signaling pathway [GO:0007186]; JNK cascade [GO:0007254]; lamellipodium assembly [GO:0030032]; positive regulation of apoptotic process [GO:0043065]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15052-1; Sequence=Displayed; Name=2; IsoId=Q15052-2; Sequence=VSP_015782; 


uniprotID: O15085
geneSymbol: ARHGEF11
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;R-HSA-416572;
pdb: 1HTJ;1XCG;2DLS;3KZ1;3T06;5E6P;5JHG;5JHH;5TYT;
name: Rho guanine nucleotide exchange factor 11 (PDZ-RhoGEF)
length: 1522
go: ENSG00000132694;
snps: rs868188 rs945508
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; G protein-coupled receptor binding [GO:0001664]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; actin cytoskeleton organization [GO:0030036]; establishment of cell polarity [GO:0030010]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell growth [GO:0001558]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]; striated muscle contraction [GO:0006941]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15085-1; Sequence=Displayed; Name=2; IsoId=O15085-2; Sequence=VSP_042003; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10900204}. Membrane {ECO:0000269|PubMed:10900204}. Note=Translocated to the membrane upon stimulation.


uniprotID: Q9NZN5
geneSymbol: ARHGEF12
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;R-HSA-416572;
pdb: 1TXD;1X86;2OMJ;2OS6;
name: Rho guanine nucleotide exchange factor 12 (Leukemia-associated RhoGEF)
length: 1544
go: ENSG00000196914;
snps: rs2305013
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; G protein-coupled receptor binding [GO:0001664]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZN5-1; Sequence=Displayed; Name=2; IsoId=Q9NZN5-2; Sequence=VSP_008131; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Membrane {ECO:0000305}. Note=Translocated to the membrane upon stimulation. {ECO:0000305}.


uniprotID: Q96PE2
geneSymbol: ARHGEF17
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
length: 2063
go: ENSG00000110237;
snps: rs3741150 rs2298808
name:
Rho guanine nucleotide exchange factor 17 (164 kDa Rho-specific guanine-nucleotide exchange factor) (p164-RhoGEF) (p164RhoGEF) (Tumor endothelial marker 4)

sequence:

opentargets:
cytosol [GO:0005829]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; actin cytoskeleton organization [GO:0030036]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]


uniprotID: Q8IW93
geneSymbol: ARHGEF19
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Rho guanine nucleotide exchange factor 19 (Ephexin-2)
length: 802
go: ENSG00000142632;
snps: rs221058 rs221057
sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IW93-1; Sequence=Displayed; Name=2; IsoId=Q8IW93-2; Sequence=VSP_024827; 


uniprotID: O95376
geneSymbol: ARIH2
reactome: R-HSA-983168;
length: 493
go: ENSG00000177479;
snps: rs11507 rs34221642
name:
E3 ubiquitin-protein ligase ARIH2 (ARI-2) (Protein ariadne-2 homolog) (EC 2.3.2.31) (RING-type E3 ubiquitin transferase ARIH2) (Triad1 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; developmental cell growth [GO:0048588]; hematopoietic stem cell proliferation [GO:0071425]; multicellular organism development [GO:0007275]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein targeting to mitochondrion [GO:1903955]; protein K48-linked ubiquitination [GO:0070936]; protein K63-linked ubiquitination [GO:0070534]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16118314}. Cytoplasm {ECO:0000269|PubMed:19340006}.


uniprotID: Q68CP9
geneSymbol: ARID2
reactome: R-HSA-3214858;R-HSA-8939243;
length: 1835
go: ENSG00000189079;
location: SUBCELLULAR LOCATION: Nucleus.
name:
AT-rich interactive domain-containing protein 2 (ARID domain-containing protein 2) (BRG1-associated factor 200) (BAF200) (Zinc finger protein with activation potential) (Zipzap/p200)

sequence:

opentargets:
nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; cardiac muscle cell proliferation [GO:0060038]; coronary artery morphogenesis [GO:0060982]; embryonic organ development [GO:0048568]; heart morphogenesis [GO:0003007]; homeostatic process [GO:0042592]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; nucleosome disassembly [GO:0006337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q68CP9-1; Sequence=Displayed; Name=2; IsoId=Q68CP9-3; Sequence=VSP_015230; Note=No experimental confirmation available.; 


uniprotID: A6NKF2
geneSymbol: ARID3C
name: AT-rich interactive domain-containing protein 3C (ARID domain-containing protein 3C)
length: 412
go: ENSG00000205143;
snps: rs12337871 rs3808869
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355}.
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane raft [GO:0045121]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]


uniprotID: O95154
geneSymbol: AKR7A3
reactome: R-HSA-5423646;
pdb: 2CLP;
name: Aflatoxin B1 aldehyde reductase member 3 (EC 1.-.-.-) (AFB1 aldehyde reductase 2) (AFB1-AR 2)
length: 331
go: ENSG00000162482;
snps: rs2231198 rs1738023 rs1738025
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; aldo-keto reductase (NADP) activity [GO:0004033]; electron transfer activity [GO:0009055]; identical protein binding [GO:0042802]; aflatoxin catabolic process [GO:0046223]; cellular aldehyde metabolic process [GO:0006081]; xenobiotic metabolic process [GO:0006805]


uniprotID: Q8N8L6
geneSymbol: ARL10
name: ADP-ribosylation factor-like protein 10
length: 244
go: ENSG00000175414;
opentargets: intracellular [GO:0005622]; GTP binding [GO:0005525]
sequence:


uniprotID: Q969Q4
geneSymbol: ARL11
name: ADP-ribosylation factor-like protein 11 (ADP-ribosylation factor-like tumor suppressor protein 1)
length: 196
go: ENSG00000152213;
snps: rs147389782 rs35712316 rs147120792 rs3803185 rs146850453
sequence:
MGSVNSRGHKAEAQVVMMGLDSAGKTTLLYKLKGHQLVETLPTVGFNVEPLKAPGHVSLTLWDVGGQAPLRASWKDYLEGTDILVYVLDSTDEARLPESAAELTEVLNDPNMAGVPFLVLANKQEAPDALPLLKIRNRLSLERFQDHCWELRGCSALTGEGLPEALQSLWSLLKSRSCMCLQARAHGAERGDSKRS

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; hematopoietic progenitor cell differentiation [GO:0002244]; intracellular protein transport [GO:0006886]; vesicle-mediated transport [GO:0016192]


uniprotID: Q9NXU5
geneSymbol: ARL15
length: 204
go: ENSG00000185305;
opentargets: extracellular exosome [GO:0070062]; intracellular [GO:0005622]; GTP binding [GO:0005525]
name:
ADP-ribosylation factor-like protein 15 (ADP-ribosylation factor-related protein 2) (ARF-related protein 2)

sequence:


uniprotID: Q9NVJ2
geneSymbol: ARL8B
pdb: 2AL7;
length: 186
go: ENSG00000134108;
name:
ADP-ribosylation factor-like protein 8B (ADP-ribosylation factor-like protein 10C) (Novel small G protein indispensable for equal chromosome segregation 1)

sequence:
MLALISRLLDWFRSLFWKEEMELTLVGLQYSGKTTFVNVIASGQFSEDMIPTVGFNMRKVTKGNVTIKIWDIGGQPRFRSMWERYCRGVNAIVYMIDAADREKIEASRNELHNLLDKPQLQGIPVLVLGNKRDLPNALDEKQLIEKMNLSAIQDREICCYSISCKEKDNIDITLQWLIQHSKSRRS

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; midbody [GO:0030496]; spindle midzone [GO:0051233]; vacuolar membrane [GO:0005774]; alpha-tubulin binding [GO:0043014]; beta-tubulin binding [GO:0048487]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; cell cycle [GO:0007049]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; lysosome localization [GO:0032418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVJ2-1; Sequence=Displayed; Name=2; IsoId=Q9NVJ2-2; Sequence=VSP_056238; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:16537643}. Lysosome membrane {ECO:0000269|PubMed:25898167}. Cytoplasm, cytoskeleton, spindle. Note=Localizes with microtubules at the spindle mid-zone during mitosis. {ECO:0000269|PubMed:15331635}.


uniprotID: P49703
geneSymbol: ARL4D
name: ADP-ribosylation factor-like protein 4D (ADP-ribosylation factor-like protein 4L)
length: 201
go: ENSG00000175906;
snps: rs1059968
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; intracellular protein transport [GO:0006886]; protein secretion [GO:0009306]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:17398095}. Nucleus {ECO:0000269|PubMed:17398095}. Cytoplasm {ECO:0000269|PubMed:17398095}.


uniprotID: Q9Y689
geneSymbol: ARL5A
pdb: 1Z6Y;1ZJ6;2H16;2H17;
name: ADP-ribosylation factor-like protein 5A
length: 179
go: ENSG00000162980;
drug: DB04315;
sequence:
MGILFTRIWRLFNHQEHKVIIVGLDNAGKTTILYQFSMNEVVHTSPTIGSNVEEIVINNTRFLMWDIGGQESLRSSWNTYYTNTEFVIVVVDSTDRERISVTREELYKMLAHEDLRKAGLLIFANKQDVKECMTVAEISQFLKLTSIKDHQWHIQACCALTGEGLCQGLEWMMSRLKIR

opentargets:
cytoplasm [GO:0005737]; trans-Golgi network [GO:0005802]; GTP binding [GO:0005525]; intracellular protein transport [GO:0006886]; protein localization to Golgi membrane [GO:1903292]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y689-1; Sequence=Displayed; Name=2; IsoId=Q9Y689-2; Sequence=VSP_041017; Note=No experimental confirmation available.; 


uniprotID: Q9H0F7
geneSymbol: ARL6
reactome: R-HSA-5620922;
pdb: 2H57;
name: ADP-ribosylation factor-like protein 6 (Bardet-Biedl syndrome 3 protein)
length: 186
go: ENSG00000113966;
snps: rs104893680 rs104893680 rs587777805 rs771054395 rs104893679 rs104893681
sequence:
MGLLDRLSVLLGLKKKEVHVLCLGLDNSGKTTIINKLKPSNAQSQNILPTIGFSIEKFKSSSLSFTVFDMSGQGRYRNLWEHYYKEGQAIIFVIDSSDRLRMVVAKEELDTLLNHPDIKHRRIPILFFANKMDLRDAVTSVKVSQLLCLENIKDKPWHICASDAIKGEGLQEGVDWLQDQIQTVKT

opentargets:
axonemal microtubule [GO:0005879]; axoneme [GO:0005930]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; membrane coat [GO:0030117]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; metal ion binding [GO:0046872]; phospholipid binding [GO:0005543]; brain development [GO:0007420]; cilium assembly [GO:0060271]; determination of left/right symmetry [GO:0007368]; fat cell differentiation [GO:0045444]; intracellular protein transport [GO:0006886]; melanosome transport [GO:0032402]; protein localization to cilium [GO:0061512]; protein localization to non-motile cilium [GO:0097499]; protein polymerization [GO:0051258]; protein targeting to membrane [GO:0006612]; protein transport from ciliary membrane to plasma membrane [GO:1903445]; regulation of smoothened signaling pathway [GO:0008589]; retina layer formation [GO:0010842]; vesicle-mediated transport [GO:0016192]; visual perception [GO:0007601]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=BBS3; IsoId=Q9H0F7-1; Sequence=Displayed; Name=2; Synonyms=BBS3L; IsoId=Q9H0F7-2; Sequence=VSP_040511; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Note=Appears in a pattern of punctae flanking the microtubule axoneme that likely correspond to small membrane-associated patches. Localizes to the so-called ciliary gate where vesicles carrying ciliary cargo fuse with the membrane.


uniprotID: Q9NVT9
geneSymbol: ARMC1
name: Armadillo repeat-containing protein 1
length: 282
go: ENSG00000104442;
opentargets: metal ion binding [GO:0046872]; metal ion transport [GO:0030001]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVT9-1; Sequence=Displayed; Name=2; IsoId=Q9NVT9-2; Sequence=VSP_054645, VSP_054646; Note=No experimental confirmation available.; 


uniprotID: Q13191
geneSymbol: CBLB
reactome: R-HSA-983168;R-HSA-983695;
pdb: 2AK5;2BZ8;2DO6;2J6F;2JNH;2LDR;2OOA;2OOB;3PFV;3VGO;3ZNI;
length: 982
go: ENSG00000114423;
snps: rs17853100 rs35835913
name:
E3 ubiquitin-protein ligase CBL-B (EC 2.3.2.27) (Casitas B-lineage lymphoma proto-oncogene b) (RING finger protein 56) (RING-type E3 ubiquitin transferase CBL-B) (SH3-binding protein CBL-B) (Signal transduction protein CBL-B)

sequence:

opentargets:
cytosol [GO:0005829]; membrane raft [GO:0045121]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; phosphotyrosine residue binding [GO:0001784]; receptor tyrosine kinase binding [GO:0030971]; SH3 domain binding [GO:0017124]; ubiquitin protein ligase activity [GO:0061630]; zinc ion binding [GO:0008270]; cell surface receptor signaling pathway [GO:0007166]; negative regulation of epidermal growth factor-activated receptor activity [GO:0007175]; NLS-bearing protein import into nucleus [GO:0006607]; regulation of platelet-derived growth factor receptor-alpha signaling pathway [GO:2000583]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=Q13191-1; Sequence=Displayed; Name=Truncated 1; IsoId=Q13191-2; Sequence=VSP_005729; Name=Truncated 2; IsoId=Q13191-3; Sequence=VSP_005730, VSP_005731; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12177062}. Note=Upon EGF stimulation, associates with endocytic vesicles.


uniprotID: Q9ULV8
geneSymbol: CBLC
pdb: 3OP0;3VRN;3VRO;3VRP;3VRQ;3VRR;
length: 474
go: ENSG00000142273;
snps: rs3208856
name:
E3 ubiquitin-protein ligase CBL-C (EC 2.3.2.27) (RING finger protein 57) (RING-type E3 ubiquitin transferase CBL-C) (SH3-binding protein CBL-3) (SH3-binding protein CBL-C) (Signal transduction protein CBL-C)

sequence:

opentargets:
membrane raft [GO:0045121]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; epidermal growth factor receptor binding [GO:0005154]; phosphotyrosine residue binding [GO:0001784]; receptor tyrosine kinase binding [GO:0030971]; SH3 domain binding [GO:0017124]; ubiquitin protein ligase activity [GO:0061630]; zinc ion binding [GO:0008270]; cell surface receptor signaling pathway [GO:0007166]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of epidermal growth factor-activated receptor activity [GO:0007175]; negative regulation of MAP kinase activity [GO:0043407]; protein ubiquitination [GO:0016567]; signal transduction [GO:0007165]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=Q9ULV8-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9ULV8-2; Sequence=VSP_005732; 


uniprotID: P22681
geneSymbol: CBL
length: 906
go: ENSG00000110395;
snps: rs267606704 rs267606706 rs267606705 rs267606707 rs267606708 rs2227988 rs2229073 rs17122769
reactome:
R-HSA-1059683;R-HSA-1236382;R-HSA-1295596;R-HSA-1433559;R-HSA-182971;R-HSA-2173789;R-HSA-5637810;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-6807004;R-HSA-8849469;R-HSA-8856825;R-HSA-8856828;R-HSA-8875360;R-HSA-912631;R-HSA-983695;

pdb:
1B47;1FBV;1YVH;2CBL;2JUJ;2K4D;2OO9;2Y1M;2Y1N;3BUM;3BUN;3BUO;3BUW;3BUX;3OB1;3OB2;3PLF;4A49;4A4B;4A4C;4GPL;5HKW;5HKX;5HKY;5HKZ;5HL0;5J3X;5O76;

name:
E3 ubiquitin-protein ligase CBL (EC 2.3.2.27) (Casitas B-lineage lymphoma proto-oncogene) (Proto-oncogene c-Cbl) (RING finger protein 55) (RING-type E3 ubiquitin transferase CBL) (Signal transduction protein CBL)

sequence:

opentargets:
cilium [GO:0005929]; cytosol [GO:0005829]; flotillin complex [GO:0016600]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; growth cone [GO:0030426]; mast cell granule [GO:0042629]; membrane raft [GO:0045121]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; DNA-binding transcription factor activity [GO:0003700]; ephrin receptor binding [GO:0046875]; epidermal growth factor receptor binding [GO:0005154]; phosphatidylinositol 3-kinase regulatory subunit binding [GO:0036312]; phosphotyrosine residue binding [GO:0001784]; receptor tyrosine kinase binding [GO:0030971]; SH3 domain binding [GO:0017124]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; cell surface receptor signaling pathway [GO:0007166]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to oxygen-glucose deprivation [GO:0090650]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; cytokine-mediated signaling pathway [GO:0019221]; entry of bacterium into host cell [GO:0035635]; epidermal growth factor receptor signaling pathway [GO:0007173]; fibroblast growth factor receptor signaling pathway [GO:0008543]; interleukin-6-mediated signaling pathway [GO:0070102]; male gonad development [GO:0008584]; mast cell degranulation [GO:0043303]; membrane organization [GO:0061024]; negative regulation of apoptotic process [GO:0043066]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of epidermal growth factor-activated receptor activity [GO:0007175]; negative regulation of neuron death [GO:1901215]; neuron death [GO:0070997]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of receptor-mediated endocytosis [GO:0048260]; protein monoubiquitination [GO:0006513]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of platelet-derived growth factor receptor-alpha signaling pathway [GO:2000583]; response to activity [GO:0014823]; response to ethanol [GO:0045471]; response to gamma radiation [GO:0010332]; response to starvation [GO:0042594]; response to testosterone [GO:0033574]; signal transduction [GO:0007165]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Cell projection, cilium {ECO:0000269|PubMed:29237719}. Golgi apparatus {ECO:0000269|PubMed:29237719}. Note=Colocalizes with FGFR2 in lipid rafts at the cell membrane.


uniprotID: P15085
geneSymbol: CPA1
pdb: 2V77;3FJU;4UEE;4UEF;4UEZ;4UF4;5OM9;
name: Carboxypeptidase A1 (EC 3.4.17.1)
length: 419
go: ENSG00000091704;
drug: DB06924;DB03441;DB02494;DB04058;DB04316;DB03201;DB11095;DB02652;DB07506;DB07351;DB08762;DB03012;
snps: rs34474469 rs17849959
location: SUBCELLULAR LOCATION: Secreted.
sequence:

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


uniprotID: P15088
geneSymbol: CPA3
reactome: R-HSA-2022377;
name: Mast cell carboxypeptidase A (MC-CPA) (EC 3.4.17.1) (Carboxypeptidase A3)
length: 417
go: ENSG00000163751;
snps: rs2270523 rs12489516
location: SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle. Note=Secretory granules.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; transport vesicle [GO:0030133]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; angiotensin maturation [GO:0002003]; proteolysis [GO:0006508]


uniprotID: Q8N4T0
geneSymbol: CPA6
name: Carboxypeptidase A6 (EC 3.4.17.-)
length: 437
go: ENSG00000165078;
snps: rs10957393 rs17853192 rs17343819 rs61738009 rs114402678
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N4T0-1; Sequence=Displayed; Name=2; IsoId=Q8N4T0-2; Sequence=VSP_008808; Note=May be due to intron retention. No experimental confirmation available.; Name=3; IsoId=Q8N4T0-3; Sequence=VSP_058375, VSP_058376; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:18178555}.


uniprotID: Q9UPW5
geneSymbol: AGTPBP1
reactome: R-HSA-8955332;
length: 1226
go: ENSG00000135049;
name:
Cytosolic carboxypeptidase 1 (EC 3.4.17.-) (ATP/GTP-binding protein 1) (Nervous system nuclear protein induced by axotomy protein 1 homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; metallocarboxypeptidase activity [GO:0004181]; tubulin binding [GO:0015631]; zinc ion binding [GO:0008270]; C-terminal protein deglutamylation [GO:0035609]; cerebellar Purkinje cell differentiation [GO:0021702]; eye photoreceptor cell differentiation [GO:0001754]; mitochondrion organization [GO:0007005]; neuromuscular process [GO:0050905]; olfactory bulb development [GO:0021772]; protein side chain deglutamylation [GO:0035610]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UPW5-1; Sequence=Displayed; Name=2; IsoId=Q9UPW5-2; Sequence=VSP_029044; Name=3; IsoId=Q9UPW5-3; Sequence=VSP_040422, VSP_029044; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23085998}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q641K1}. Nucleus {ECO:0000269|PubMed:23085998}. Mitochondrion {ECO:0000250|UniProtKB:Q641K1}. Note=Localizes in both the cytoplasm and nuclei of interphase and dividing cells. {ECO:0000269|PubMed:23085998}.


uniprotID: Q5U5Z8
geneSymbol: AGBL2
reactome: R-HSA-8955332;
name: Cytosolic carboxypeptidase 2 (EC 3.4.17.-) (ATP/GTP-binding protein-like 2)
length: 902
go: ENSG00000165923;
snps: rs12795414 rs35898124 rs7941404 rs1870545 rs12286721
sequence:

opentargets:
centriole [GO:0005814]; ciliary basal body [GO:0036064]; cytosol [GO:0005829]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; protein side chain deglutamylation [GO:0035610]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5U5Z8-1; Sequence=Displayed; Name=2; IsoId=Q5U5Z8-2; Sequence=VSP_024360; Name=3; IsoId=Q5U5Z8-3; Sequence=VSP_024361; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q8CDK2}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:23085998}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:23085998}. Note=Colocalizes with gamma-tubulin in the centrioles and with glutamylated tubulin in the basal bodies of ciliated cells. {ECO:0000269|PubMed:23085998}.


uniprotID: P14384
geneSymbol: CPM
reactome: R-HSA-163125;
pdb: 1UWY;
name: Carboxypeptidase M (CPM) (EC 3.4.17.12)
length: 443
go: ENSG00000135678;
snps: rs7978197 rs7309831
sequence:

opentargets:
anchored component of membrane [GO:0031225]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; carboxypeptidase activity [GO:0004180]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; anatomical structure morphogenesis [GO:0009653]; peptide metabolic process [GO:0006518]; protein processing [GO:0016485]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12457462}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:12457462}.


uniprotID: P15169
geneSymbol: CPN1
reactome: R-HSA-977606;
pdb: 2NSM;
length: 458
go: ENSG00000120054;
snps: rs61751507
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
name:
Carboxypeptidase N catalytic chain (CPN) (EC 3.4.17.3) (Anaphylatoxin inactivator) (Arginine carboxypeptidase) (Carboxypeptidase N polypeptide 1) (Carboxypeptidase N small subunit) (Kininase-1) (Lysine carboxypeptidase) (Plasma carboxypeptidase B) (Serum carboxypeptidase N) (SCPN)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; bradykinin catabolic process [GO:0010815]; peptide metabolic process [GO:0006518]; protein processing [GO:0016485]; regulation of complement activation [GO:0030449]; response to glucocorticoid [GO:0051384]


uniprotID: Q8IVL8
geneSymbol: CPO
pdb: 5MRV;
name: Carboxypeptidase O (CPO) (EC 3.4.17.-)
length: 374
go: ENSG00000144410;
snps: rs13420911 rs11903403 rs896000260
sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; apical plasma membrane [GO:0016324]; extracellular space [GO:0005615]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; proteolysis [GO:0006508]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:21921028}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:21921028}.


uniprotID: Q9Y646
geneSymbol: CPQ
name: Carboxypeptidase Q (EC 3.4.17.-) (Lysosomal dipeptidase) (Plasma glutamate carboxypeptidase)
length: 472
go: ENSG00000104324;
drug: DB00142;
snps: rs34088584
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; carboxypeptidase activity [GO:0004180]; metal ion binding [GO:0046872]; metallodipeptidase activity [GO:0070573]; protein homodimerization activity [GO:0042803]; peptide catabolic process [GO:0043171]; proteolysis [GO:0006508]; thyroid hormone generation [GO:0006590]; tissue regeneration [GO:0042246]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:10206990}. Golgi apparatus {ECO:0000269|PubMed:10206990}. Lysosome {ECO:0000250}. Secreted {ECO:0000269|PubMed:10206990}. Note=Secretion is stimulated by TSH/thyroid-stimulating hormone, INS/insulin and SST/somatostatin. {ECO:0000250}.


uniprotID: Q9BRT8
geneSymbol: CBWD1
length: 395
go: ENSG00000172785;
opentargets: ATP binding [GO:0005524]
snps: rs16925054
name:
COBW domain-containing protein 1 (Cobalamin synthase W domain-containing protein 1) (COBP) (NPC-A-6 COBW domain-containing protein 1) (NPC-A-6)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BRT8-1; Sequence=Displayed; Name=2; IsoId=Q9BRT8-2; Sequence=VSP_019731, VSP_019732; Name=3; IsoId=Q9BRT8-3; Sequence=VSP_019734; Note=No experimental confirmation available.; Name=4; IsoId=Q9BRT8-4; Sequence=VSP_019733; Note=No experimental confirmation available.; 


