# annotation

uniprotID: Q3SY89
geneSymbol: ELOA3B
length: 546
go: ENSG00000278674;
opentargets: elongin complex [GO:0070449]; regulation of transcription by RNA polymerase II [GO:0006357]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00649}.
reactome:
R-HSA-112382;R-HSA-167152;R-HSA-167200;R-HSA-167238;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-674695;R-HSA-6796648;R-HSA-75955;

name:
Elongin-A3 member B (EloA3B) (Elongin-A3-like-1) (EloA3-like-1) (RNA polymerase II transcription factor SIII subunit A3-like-1) (Transcription elongation factor B polypeptide 3C-like-1)

sequence:


uniprotID: A0A087WX78
geneSymbol: ELOA3C
name: Putative elongin-A3 member C (EloA3C)
length: 387
opentargets: elongin complex [GO:0070449]; regulation of transcription by RNA polymerase II [GO:0006357]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00649}.
sequence:


uniprotID: A6NLF2
geneSymbol: ELOA3D
length: 546
go: ENSG00000274744;
opentargets: elongin complex [GO:0070449]; regulation of transcription by RNA polymerase II [GO:0006357]
snps: rs2261291
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00649}.
name:
Elongin-A3 member D (EloA3D) (Elongin-A3-like-2) (EloA3-like-2) (RNA polymerase II transcription factor SIII subunit A3-like-2) (Transcription elongation factor B polypeptide 3C-like-2)

sequence:


uniprotID: Q9HB03
geneSymbol: ELOVL3
reactome: R-HSA-2046105;R-HSA-2046106;R-HSA-75876;
length: 270
go: ENSG00000119915;
name:
Elongation of very long chain fatty acids protein 3 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL3) (Cold-inducible glycoprotein of 30 kDa) (ELOVL fatty acid elongase 3) (ELOVL FA elongase 3) (Very long chain 3-ketoacyl-CoA synthase 3) (Very long chain 3-oxoacyl-CoA synthase 3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; 3-oxo-arachidoyl-CoA synthase activity [GO:0102336]; 3-oxo-cerotoyl-CoA synthase activity [GO:0102337]; 3-oxo-lignoceronyl-CoA synthase activity [GO:0102338]; fatty acid elongase activity [GO:0009922]; very-long-chain 3-ketoacyl-CoA synthase activity [GO:0102756]; alpha-linolenic acid metabolic process [GO:0036109]; fatty acid elongation, monounsaturated fatty acid [GO:0034625]; fatty acid elongation, polyunsaturated fatty acid [GO:0034626]; fatty acid elongation, saturated fatty acid [GO:0019367]; linoleic acid metabolic process [GO:0043651]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; positive regulation of cold-induced thermogenesis [GO:0120162]; sphingolipid biosynthetic process [GO:0030148]; unsaturated fatty acid biosynthetic process [GO:0006636]; very long-chain fatty acid biosynthetic process [GO:0042761]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000255|HAMAP-Rule:MF_03203, ECO:0000269|PubMed:20937905}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03203}.


uniprotID: Q9H9T3
geneSymbol: ELP3
reactome: R-HSA-3214847;
name: Elongator complex protein 3 (hELP3) (EC 2.3.1.48)
length: 547
go: ENSG00000134014;
sequence:

opentargets:
cytoplasm [GO:0005737]; Elongator holoenzyme complex [GO:0033588]; nucleolus [GO:0005730]; nucleus [GO:0005634]; transcription elongation factor complex [GO:0008023]; acetyltransferase activity [GO:0016407]; histone acetyltransferase activity [GO:0004402]; iron-sulfur cluster binding [GO:0051536]; metal ion binding [GO:0046872]; phosphorylase kinase regulator activity [GO:0008607]; central nervous system development [GO:0007417]; neuron migration [GO:0001764]; positive regulation of cell migration [GO:0030335]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription elongation from RNA polymerase II promoter [GO:0006368]; tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation [GO:0002926]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H9T3-1; Sequence=Displayed; Name=2; IsoId=Q9H9T3-2; Sequence=VSP_024406; Name=3; IsoId=Q9H9T3-4; Sequence=VSP_055285, VSP_055286; Note=No experimental confirmation available.; Name=4; IsoId=Q9H9T3-5; Sequence=VSP_055284; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19185337}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus.


uniprotID: Q14241
geneSymbol: ELOA
pdb: 4HFX;
length: 798
go: ENSG00000011007;
snps: rs2235541 rs520713 rs550252
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Elongin-A (EloA) (Elongin 110 kDa subunit) (RNA polymerase II transcription factor SIII subunit A1) (SIII p110) (Transcription elongation factor B polypeptide 3)

sequence:

opentargets:
elongin complex [GO:0070449]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]


uniprotID: O43427
geneSymbol: FIBP
length: 364
go: ENSG00000172500;
snps: rs11559154 rs2231893 rs36080962
name:
Acidic fibroblast growth factor intracellular-binding protein (aFGF intracellular-binding protein) (FGF-1 intracellular-binding protein)

sequence:

opentargets:
endomembrane system [GO:0012505]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; fibroblast growth factor binding [GO:0017134]; fibroblast growth factor receptor signaling pathway [GO:0008543]; platelet aggregation [GO:0070527]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=O43427-1; Sequence=Displayed; Name=Short; IsoId=O43427-2; Sequence=VSP_004250; 

location:
SUBCELLULAR LOCATION: Nucleus. Endomembrane system; Peripheral membrane protein. Note=Also associated with cytoplasmic membranes, particularly of mitochondria.


uniprotID: Q6ZR08
geneSymbol: DNAH12
length: 3092
go: ENSG00000174844;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}.
name:
Dynein heavy chain 12, axonemal (Axonemal beta dynein heavy chain 12) (Axonemal dynein heavy chain 12-like protein) (Axonemal dynein heavy chain 7-like protein) (Ciliary dynein heavy chain 12) (Dynein heavy chain 7-like, axonemal) (Dynein heavy chain domain-containing protein 2)

sequence:

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; dynein complex [GO:0030286]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule motor activity [GO:0003777]; microtubule-based movement [GO:0007018]

snps:
rs9311651 rs6778837 rs6445902 rs7629743 rs6806444 rs6773904 rs4462937 rs17050836 rs17793014 rs4681982 rs17057989 rs4060726 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6ZR08-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZR08-4; Sequence=VSP_039335, VSP_039336; Name=2; IsoId=Q6ZR08-2; Sequence=VSP_036920, VSP_036924; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZR08-3; Sequence=VSP_036921, VSP_036922, VSP_036923; Note=No experimental confirmation available.; 


uniprotID: Q6XUX3
geneSymbol: DSTYK
length: 929
go: ENSG00000133059;
snps: rs200780796 rs35845538 rs778586547
name:
Dual serine/threonine and tyrosine protein kinase (EC 2.7.12.1) (Dusty protein kinase) (Dusty PK) (RIP-homologous kinase) (Receptor-interacting serine/threonine-protein kinase 5) (Sugen kinase 496) (SgK496)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; cellular response to fibroblast growth factor stimulus [GO:0044344]; negative regulation of apoptotic process [GO:0043066]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast growth factor receptor signaling pathway [GO:0045743]; positive regulation of kinase activity [GO:0033674]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6XUX3-1; Sequence=Displayed; Name=2; IsoId=Q6XUX3-2; Sequence=VSP_018034; Note=No experimental confirmation available.; Name=3; IsoId=Q6XUX3-3; Sequence=VSP_018031; Note=No experimental confirmation available.; Name=4; IsoId=Q6XUX3-4; Sequence=VSP_018030, VSP_018032, VSP_018033; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17123648, ECO:0000269|PubMed:23862974}. Cell membrane {ECO:0000250|UniProtKB:Q6XUX1}. Apical cell membrane {ECO:0000269|PubMed:23862974}. Basolateral cell membrane {ECO:0000269|PubMed:23862974}. Cell junction {ECO:0000250|UniProtKB:Q6XUX1}. Note=Detected at apical cell-cell junctions. Colocalized with FGF receptors to the cell membrane (By similarity). Detected in basolateral and apical membranes of all tubular epithelia. {ECO:0000250|UniProtKB:Q6XUX1, ECO:0000269|PubMed:23862974}.


uniprotID: Q86SJ6
geneSymbol: DSG4
reactome: R-HSA-6805567;R-HSA-6809371;
name: Desmoglein-4 (Cadherin family member 13)
length: 1040
go: ENSG00000175065;
snps: rs13381457 rs7229252 rs4799570
sequence:

opentargets:
cornified envelope [GO:0001533]; desmosome [GO:0030057]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; BMP signaling pathway [GO:0030509]; cornification [GO:0070268]; hair follicle development [GO:0001942]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; keratinization [GO:0031424]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86SJ6-1; Sequence=Displayed; Name=2; IsoId=Q86SJ6-2; Sequence=VSP_012907; 

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


uniprotID: O60869
geneSymbol: EDF1
pdb: 1X57;
name: Endothelial differentiation-related factor 1 (EDF-1) (Multiprotein-bridging factor 1) (MBF1)
length: 148
go: ENSG00000107223;
sequence:
MAESDWDTVTVLRKKGPTAAQAKSKQAILAAQRRGEDVETSKKWAAGQNKQHSITKNTAKLDRETEELHHDRVTLEVGKVIQQGRQSKGLTQKDLATKINEKPQVIADYESGRAIPNNQVLGKIERAIGLKLRGKDIGKPIEKGPRAK

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; nucleolus [GO:0005730]; nucleus [GO:0005634]; calmodulin binding [GO:0005516]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565]; TFIID-class transcription factor complex binding [GO:0001094]; transcription coactivator activity [GO:0003713]; endothelial cell differentiation [GO:0045446]; multicellular organism development [GO:0007275]; positive regulation of DNA binding [GO:0043388]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of lipid metabolic process [GO:0019216]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Alpha; IsoId=O60869-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=O60869-2; Sequence=VSP_013336; Name=3; IsoId=O60869-3; Sequence=VSP_054701; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Also nuclear upon binding to NR5A1 and treatment of cells with TPA or forskolin.


uniprotID: Q8IY85
geneSymbol: EFCAB13
name: EF-hand calcium-binding domain-containing protein 13
length: 973
go: ENSG00000178852;
snps: rs55853213 rs4968318 rs17855599
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IY85-1; Sequence=Displayed; Name=2; IsoId=Q8IY85-2; Sequence=VSP_047187, VSP_047188, VSP_047189; 


uniprotID: Q14156
geneSymbol: EFR3A
name: Protein EFR3 homolog A (Protein EFR3-like)
length: 821
go: ENSG00000132294;
sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; phosphatidylinositol phosphorylation [GO:0046854]; protein localization to plasma membrane [GO:0072659]

snps:
rs749463078 rs780864616 rs774959333 rs754610866 rs2270877 rs1051221 rs770980074 rs779475356 rs374094815 rs759848268 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14156-1; Sequence=Displayed; Name=2; IsoId=Q14156-2; Sequence=VSP_022217; Note=No experimental confirmation available.; Name=3; IsoId=Q14156-3; Sequence=VSP_022218; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825}; Lipid-anchor {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825}. Cytoplasm, cytosol {ECO:0000269|PubMed:25380825}. Note=Palmitoylation anchors the protein to the plasma membrane (PubMed:23229899, PubMed:25380825, PubMed:26571211). A small amount is observed in the cytosol (PubMed:25380825). {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825, ECO:0000269|PubMed:26571211}.


uniprotID: Q7Z4H9
geneSymbol: FAM220A
name: Protein FAM220A (STAT3-interacting protein as a repressor)
length: 259
go: ENSG00000178397;
opentargets: nucleus [GO:0005634]
snps: rs3750041 rs3750040 rs3750039 rs6952125 rs2241445
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:


uniprotID: Q96CJ1
geneSymbol: EAF2
reactome: R-HSA-112382;R-HSA-674695;R-HSA-75955;
name: ELL-associated factor 2 (Testosterone-regulated apoptosis inducer and tumor suppressor protein)
length: 260
go: ENSG00000145088;
location: SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:12446457, ECO:0000269|PubMed:12907652}.
sequence:

opentargets:
ELL-EAF complex [GO:0032783]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; transcription elongation factor complex [GO:0008023]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; apoptotic process [GO:0006915]; negative regulation of cell growth [GO:0030308]; negative regulation of epithelial cell proliferation involved in prostate gland development [GO:0060770]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96CJ1-1; Sequence=Displayed; Name=2; IsoId=Q96CJ1-2; Sequence=VSP_015310; 


uniprotID: Q9BVJ7
geneSymbol: DUSP23
pdb: 2IMG;4ERC;
length: 150
go: ENSG00000158716;
drug: DB04214;
snps: rs11544443 rs1129923
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol. Nucleus. Note=Mainly cytosolic. Also nuclear.
name:
Dual specificity protein phosphatase 23 (EC 3.1.3.16) (EC 3.1.3.48) (Low molecular mass dual specificity phosphatase 3) (LDP-3) (VH1-like phosphatase Z)

sequence:
MGVQPPNFSWVLPGRLAGLALPRLPAHYQFLLDLGVRHLVSLTERGPPHSDSCPGLTLHRLRIPDFCPPAPDQIDRFVQIVDEANARGEAVGVHCALGFGRTGTMLACYLVKERGLAAGDAIAEIRRLRPGSIETYEQEKAVFQFYQRTK

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; phosphatase activity [GO:0016791]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; dephosphorylation [GO:0016311]


uniprotID: O00341
geneSymbol: SLC1A7
reactome: R-HSA-210500;R-HSA-425393;
length: 560
go: ENSG00000162383;
drug: DB00142;
snps: rs375136400 rs1288401
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Excitatory amino acid transporter 5 (Retinal glutamate transporter) (Solute carrier family 1 member 7)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; amino acid transmembrane transporter activity [GO:0015171]; high-affinity glutamate transmembrane transporter activity [GO:0005314]; L-glutamate transmembrane transporter activity [GO:0005313]; dicarboxylic acid transport [GO:0006835]; glutamate secretion [GO:0014047]; ion transport [GO:0006811]; neurotransmitter reuptake [GO:0098810]; neurotransmitter uptake [GO:0001504]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00341-1; Sequence=Displayed; Name=2; IsoId=O00341-2; Sequence=VSP_056560, VSP_056561; Note=No experimental confirmation available.; 


uniprotID: Q8N4Y2
geneSymbol: CRACR2B
length: 399
go: ENSG00000177685;
snps: rs7126805 rs28558789 rs35567200 rs4075289
name:
EF-hand calcium-binding domain-containing protein 4A (Calcium release-activated calcium channel regulator 2B) (CRAC channel regulator 2B) (Calcium release-activated channel regulator 2B)

sequence:

opentargets:
cytoplasm [GO:0005737]; calcium ion binding [GO:0005509]; cellular protein localization [GO:0034613]; regulation of store-operated calcium entry [GO:2001256]; store-operated calcium entry [GO:0002115]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N4Y2-1; Sequence=Displayed; Name=2; IsoId=Q8N4Y2-2; Sequence=VSP_024290, VSP_024291, VSP_024292, VSP_024293; Name=3; IsoId=Q8N4Y2-3; Sequence=VSP_039545; 


uniprotID: Q9HA90
geneSymbol: EFCC1
name: EF-hand and coiled-coil domain-containing protein 1 (Coiled-coil domain-containing protein 48)
length: 598
go: ENSG00000114654;
opentargets: calcium ion binding [GO:0005509]
snps: rs3732430
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HA90-1; Sequence=Displayed; Name=2; IsoId=Q9HA90-2; Sequence=VSP_039449; 


uniprotID: P98172
geneSymbol: EFNB1
reactome: R-HSA-2682334;R-HSA-3928662;R-HSA-3928664;R-HSA-3928665;
name: Ephrin-B1 (EFL-3) (ELK ligand) (ELK-L) (EPH-related receptor tyrosine kinase ligand 2) (LERK-2)
length: 346
go: ENSG00000090776;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; synapse [GO:0045202]; ephrin receptor binding [GO:0046875]; protein tyrosine kinase activity [GO:0004713]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; cell-cell signaling [GO:0007267]; embryonic pattern specification [GO:0009880]; ephrin receptor signaling pathway [GO:0048013]; neural crest cell migration [GO:0001755]; positive regulation of T cell proliferation [GO:0042102]; T cell costimulation [GO:0031295]

snps:
rs104894801 rs104894796 rs28936069 rs28936070 rs146636295 rs28935170 rs28936071 rs7889678 rs16989105 


uniprotID: Q8N1N2
geneSymbol: DYNAP
name: Dynactin-associated protein (Full)
length: 210
go: ENSG00000178690;
snps: rs35428499 rs9947055
sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; activation of protein kinase B activity [GO:0032148]; cellular response to ergosterol [GO:1901625]; positive regulation of cell proliferation [GO:0008284]; regulation of apoptotic process [GO:0042981]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:20978158}; Single-pass membrane protein {ECO:0000269|PubMed:20978158}. Cell membrane {ECO:0000269|PubMed:20978158}; Single-pass membrane protein {ECO:0000269|PubMed:20978158}. Note=Concentrated at cell-cell borders. Localizes at membranes in a microtubule-dependent manner.


uniprotID: Q9BQ95
geneSymbol: ECSIT
reactome: R-HSA-166058;R-HSA-6799198;R-HSA-975138;R-HSA-975871;
name: Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial (Protein SITPEC)
length: 431
go: ENSG00000130159;
snps: rs34803265 rs2302971
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; oxidoreductase activity, acting on NAD(P)H [GO:0016651]; innate immune response [GO:0045087]; mitochondrial respiratory chain complex I assembly [GO:0032981]; regulation of oxidoreductase activity [GO:0051341]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BQ95-1; Sequence=Displayed; Name=2; IsoId=Q9BQ95-2; Sequence=VSP_026345, VSP_026346; Name=3; IsoId=Q9BQ95-3; Sequence=VSP_046689; Note=Gene prediction based on EST data.; Name=4; IsoId=Q9BQ95-4; Sequence=VSP_055626, VSP_026346; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17344420}. Nucleus {ECO:0000269|PubMed:17344420}. Mitochondrion {ECO:0000269|PubMed:17344420}.


uniprotID: Q15329
geneSymbol: E2F5
pdb: 5TUV;
name: Transcription factor E2F5 (E2F-5)
length: 346
go: ENSG00000133740;
snps: rs4150841
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-1362277;R-HSA-1362300;R-HSA-1538133;R-HSA-2173796;R-HSA-539107;R-HSA-69202;R-HSA-69231;R-HSA-69656;

sequence:

opentargets:
cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; animal organ morphogenesis [GO:0009887]; cell projection organization [GO:0030030]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell cycle [GO:0051726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15329-1; Sequence=Displayed; Name=2; IsoId=Q15329-2; Sequence=VSP_040098; Name=3; IsoId=Q15329-3; Sequence=VSP_044660; Note=No experimental confirmation available.; 


uniprotID: P24530
geneSymbol: EDNRB
reactome: R-HSA-375276;R-HSA-416476;
pdb: 5GLH;5GLI;5X93;5XPR;
name: Endothelin receptor type B (ET-B) (ET-BR) (Endothelin receptor non-selective type)
length: 442
go: ENSG00000136160;
drug: DB06403;DB00559;DB08932;DB06268;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; endothelin receptor activity [GO:0004962]; peptide hormone binding [GO:0017046]; type 1 angiotensin receptor binding [GO:0031702]; aging [GO:0007568]; calcium-mediated signaling [GO:0019722]; cell surface receptor signaling pathway [GO:0007166]; cellular response to lipopolysaccharide [GO:0071222]; cGMP-mediated signaling [GO:0019934]; endothelin receptor signaling pathway [GO:0086100]; enteric nervous system development [GO:0048484]; enteric smooth muscle cell differentiation [GO:0035645]; epithelial fluid transport [GO:0042045]; G protein-coupled receptor signaling pathway [GO:0007186]; macrophage chemotaxis [GO:0048246]; melanocyte differentiation [GO:0030318]; negative regulation of adenylate cyclase activity [GO:0007194]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cellular protein metabolic process [GO:0032269]; negative regulation of neuron maturation [GO:0014043]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nervous system development [GO:0007399]; neural crest cell migration [GO:0001755]; peripheral nervous system development [GO:0007422]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of penile erection [GO:0060406]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of urine volume [GO:0035810]; posterior midgut development [GO:0007497]; regulation of blood pressure [GO:0008217]; regulation of epithelial cell proliferation [GO:0050678]; regulation of fever generation [GO:0031620]; regulation of pH [GO:0006885]; regulation of sensory perception of pain [GO:0051930]; response to endothelin [GO:1990839]; response to organic cyclic compound [GO:0014070]; response to pain [GO:0048265]; sensory perception of pain [GO:0019233]; vasoconstriction [GO:0042310]; vasodilation [GO:0042311]; vein smooth muscle contraction [GO:0014826]

snps:
rs12720160 rs5345 rs5346 rs1801710 rs2228271 rs5347 rs104894388 rs5350 rs104894387 rs5352 rs200363611 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=P24530-1; Sequence=Displayed; Name=B; IsoId=P24530-2; Sequence=VSP_001879; Name=C; Synonyms=Delta-3; IsoId=P24530-3; Sequence=VSP_001878; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28236341}; Multi-pass membrane protein. Note=internalized after activation by endothelins. {ECO:0000269|PubMed:28236341}.


uniprotID: Q3B7T1
geneSymbol: EDRF1
name: Erythroid differentiation-related factor 1
length: 1238
go: ENSG00000107938;
opentargets: nucleus [GO:0005634]; positive regulation of transcription, DNA-templated [GO:0045893]
snps: rs143528650
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q3B7T1-1; Sequence=Displayed; Name=2; IsoId=Q3B7T1-3; Sequence=VSP_019531, VSP_019532; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q3B7T1-4; Sequence=VSP_035713, VSP_035714; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q3B7T1-5; Sequence=VSP_035712; Note=No experimental confirmation available.; 


uniprotID: P20800
geneSymbol: EDN2
reactome: R-HSA-375276;R-HSA-416476;
name: Endothelin-2 (ET-2) (Preproendothelin-2) (PPET2)
length: 178
go: ENSG00000127129;
snps: rs5798 rs11572371
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MVSVPTTWCSVALALLVALHEGKGQAAATLEQPASSSHAQGTHLRLRRCSCSSWLDKECVYFCHLDIIWVNTPEQTAPYGLGNPPRRRRRSLPRRCQCSSARDPACATFCLRRPWTEAGAVPSRKSPADVFQTGKTGATTGELLQRLRDISTVKSLFAKRQQEAMREPRSTHSRWRKR

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; endothelin B receptor binding [GO:0031708]; hormone activity [GO:0005179]; artery smooth muscle contraction [GO:0014824]; calcium-mediated signaling [GO:0019722]; cell surface receptor signaling pathway [GO:0007166]; cytokine-mediated signaling pathway [GO:0019221]; energy homeostasis [GO:0097009]; G protein-coupled receptor signaling pathway [GO:0007186]; hormonal regulation of the force of heart contraction [GO:0003058]; inositol phosphate-mediated signaling [GO:0048016]; lung alveolus development [GO:0048286]; macrophage activation [GO:0042116]; macrophage chemotaxis [GO:0048246]; neutrophil chemotaxis [GO:0030593]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of heart rate [GO:0010460]; positive regulation of leukocyte chemotaxis [GO:0002690]; positive regulation of prostaglandin-endoperoxide synthase activity [GO:0060585]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of the force of heart contraction by chemical signal [GO:0003099]; prostaglandin biosynthetic process [GO:0001516]; regulation of systemic arterial blood pressure by endothelin [GO:0003100]; regulation of vasoconstriction [GO:0019229]; temperature homeostasis [GO:0001659]; vasoconstriction [GO:0042310]; vein smooth muscle contraction [GO:0014826]


uniprotID: Q9NWS6
geneSymbol: FAM118A
name: Protein FAM118A
length: 357
go: ENSG00000100376;
opentargets: integral component of membrane [GO:0016021]; identical protein binding [GO:0042802]
snps: rs11556482 rs6007594
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWS6-1; Sequence=Displayed; Name=2; IsoId=Q9NWS6-2; Sequence=VSP_056990; Note=No experimental confirmation available.; 


uniprotID: Q9BQD7
geneSymbol: FAM173A
name: Protein N-lysine methyltransferase FAM173A (EC 2.1.1.-)
length: 235
go: ENSG00000103254;
opentargets: integral component of membrane [GO:0016021]; methyltransferase activity [GO:0008168]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q969W3
geneSymbol: FAM104A
name: Protein FAM104A
length: 186
go: ENSG00000133193;
sequence:
MGGRGADAGSSGGTGPTEGYSPPAASTRAAARAKARGGGRGGRRNTTPSVPSLRGAAPRSFHPPAAMSERLRPRKRRRNGNEEDNHLPPQTKRSSRNPVFQDSWDTESSGSDSGGSSSSSSSSINSPDRASGPEGSLSQTMAGSSPNTPQPVPEQSALCQGLYFHINQTLREAHFHSLQHRGRPLT

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969W3-1; Sequence=Displayed; Name=2; IsoId=Q969W3-2; Sequence=VSP_039868; 


uniprotID: P09467
geneSymbol: FBP1
reactome: R-HSA-70263;
pdb: 1FTA;2FHY;2FIE;2FIX;2JJK;2VT5;2WBB;2WBD;2Y5K;2Y5L;3A29;3KBZ;3KC0;3KC1;4MJO;5LDZ;
length: 338
go: ENSG00000165140;
drug: DB08484;DB00131;DB04493;DB05053;DB04175;
snps: rs766005419 rs121918188 rs121918189 rs121918191 rs1769259 rs2297085 rs28369761 rs121918192
name:
Fructose-1,6-bisphosphatase 1 (FBPase 1) (EC 3.1.3.11) (D-fructose-1,6-bisphosphate 1-phosphohydrolase 1) (Liver FBPase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; AMP binding [GO:0016208]; fructose 1,6-bisphosphate 1-phosphatase activity [GO:0042132]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; monosaccharide binding [GO:0048029]; cellular response to drug [GO:0035690]; cellular response to magnesium ion [GO:0071286]; dephosphorylation [GO:0016311]; fructose 1,6-bisphosphate metabolic process [GO:0030388]; fructose 6-phosphate metabolic process [GO:0006002]; fructose metabolic process [GO:0006000]; gluconeogenesis [GO:0006094]; negative regulation of cell growth [GO:0030308]; negative regulation of glycolytic process [GO:0045820]; negative regulation of Ras protein signal transduction [GO:0046580]; negative regulation of transcription by RNA polymerase II [GO:0000122]; protein homotetramerization [GO:0051289]; regulation of gluconeogenesis [GO:0006111]; sucrose biosynthetic process [GO:0005986]


uniprotID: Q9H329
geneSymbol: EPB41L4B
name: Band 4.1-like protein 4B (FERM-containing protein CG1) (Protein EHM2)
length: 900
go: ENSG00000095203;
snps: rs3750450
sequence:

opentargets:
apical part of cell [GO:0045177]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; cytoskeletal protein binding [GO:0008092]; structural constituent of cytoskeleton [GO:0005200]; actomyosin structure organization [GO:0031032]; positive regulation of cell adhesion [GO:0045785]; positive regulation of gene expression [GO:0010628]; positive regulation of keratinocyte migration [GO:0051549]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H329-1; Sequence=Displayed; Name=2; IsoId=Q9H329-2; Sequence=VSP_007202, VSP_007203; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22006950}. Cell junction, tight junction {ECO:0000269|PubMed:22006950}. Note=Accumulates along apical cell-cell boundaries and is also detected in the cytoplasm in a punctate manner. {ECO:0000269|PubMed:22006950}.


uniprotID: P48664
geneSymbol: SLC1A6
reactome: R-HSA-210500;R-HSA-425393;
length: 564
go: ENSG00000105143;
drug: DB00142;
name:
Excitatory amino acid transporter 4 (Sodium-dependent glutamate/aspartate transporter) (Solute carrier family 1 member 6)

sequence:

opentargets:
glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; intermediate filament cytoskeleton [GO:0045111]; membrane [GO:0016020]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; high-affinity glutamate transmembrane transporter activity [GO:0005314]; L-aspartate transmembrane transporter activity [GO:0015183]; metal ion binding [GO:0046872]; aspartate transmembrane transport [GO:0015810]; chemical synaptic transmission [GO:0007268]; glutamate secretion [GO:0014047]; ion transport [GO:0006811]; L-glutamate import across plasma membrane [GO:0098712]; L-glutamate transmembrane transport [GO:0015813]; neurotransmitter uptake [GO:0001504]; regulation of membrane potential [GO:0042391]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48664-1; Sequence=Displayed; Name=2; IsoId=P48664-2; Sequence=VSP_055130; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:7791878}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q8N8J7
geneSymbol: FAM241A
name: Uncharacterized protein FAM241A
length: 132
go: ENSG00000174749;
snps: rs17852081
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000255}.
sequence:
MCSAGELLRGGDGGERDEDGDALAEREAAGTGWDPGASPRRRGQRPKESEQDVEDSQNHTGEPVGDDYKKMGTLFGELNKNLINMGFTRMYFGERIVEPVIVIFFWVMLWFLGLQALGLVAVLCLVIIYVQQ

opentargets:
Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]


uniprotID: Q5THR3
geneSymbol: EFCAB6
pdb: 1WLZ;5D67;
length: 1501
go: ENSG00000186976;
opentargets: nucleoplasm [GO:0005654]; calcium ion binding [GO:0005509]
snps: rs16990981 rs3747203 rs5764214 rs6006438 rs137794 rs137731 rs12159591 rs6006514 rs9614382
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12612053}.
name:
EF-hand calcium-binding domain-containing protein 6 (CAP-binding protein complex-interacting protein 1) (DJ-1-binding protein) (DJBP)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q5THR3-1; Sequence=Displayed; Name=2; Synonyms=Isoform b; IsoId=Q5THR3-2; Sequence=VSP_019810; Name=3; IsoId=Q5THR3-3; Sequence=VSP_019809; Name=4; IsoId=Q5THR3-4; Sequence=VSP_019808, VSP_019811; Note=No experimental confirmation available.; Name=6; IsoId=Q5THR3-6; Sequence=VSP_034831, VSP_034832; Note=No experimental confirmation available.; Name=5; IsoId=Q5THR3-5; Sequence=VSP_019812, VSP_019813; Note=No experimental confirmation available.; 


uniprotID: O75071
geneSymbol: EFCAB14
name: EF-hand calcium-binding domain-containing protein 14
length: 495
go: ENSG00000159658;
opentargets: calcium ion binding [GO:0005509]
snps: rs6665021
sequence:


uniprotID: P52797
geneSymbol: EFNA3
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
name: Ephrin-A3 (EFL-2) (EHK1 ligand) (EHK1-L) (EPH-related receptor tyrosine kinase ligand 3) (LERK-3)
length: 238
go: ENSG00000143590;
snps: rs17723260
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; intrinsic component of plasma membrane [GO:0031226]; plasma membrane [GO:0005886]; ephrin receptor binding [GO:0046875]; transmembrane-ephrin receptor activity [GO:0005005]; axon guidance [GO:0007411]; cell-cell signaling [GO:0007267]; ephrin receptor signaling pathway [GO:0048013]; negative regulation of angiogenesis [GO:0016525]; positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process [GO:1902961]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P52797-1; Sequence=Displayed; Name=2; IsoId=P52797-2; Sequence=VSP_055483; Note=No experimental confirmation available.; 


uniprotID: P41212
geneSymbol: ETV6
pdb: 1JI7;1LKY;2DAO;2QAR;2QB0;2QB1;5L0P;
name: Transcription factor ETV6 (ETS translocation variant 6) (ETS-related protein Tel1) (Tel)
length: 452
go: ENSG00000139083;
snps: rs724159947 rs724159946 rs724159945
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; 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]; protein domain specific binding [GO:0019904]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell differentiation [GO:0030154]; hematopoietic stem cell proliferation [GO:0071425]; mesenchymal cell apoptotic process [GO:0097152]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neurogenesis [GO:0022008]; regulation of transcription by RNA polymerase II [GO:0006357]; vitellogenesis [GO:0007296]


uniprotID: Q7Z5A9
geneSymbol: FAM19A1
name: Protein FAM19A1 (Chemokine-like protein TAFA-1)
length: 133
go: ENSG00000183662;
opentargets: endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15028294}.
sequence:
MAMVSAMSWVLYLWISACAMLLCHGSLQHTFQQHHLHRPEGGTCEVIAAHRCCNKNRIEERSQTVKCSCLPGKVAGTTRNRPSCVDASIVIGKWWCEMEPCLEGEECKTLPDNSGWMCATGNKIKTTRIHPRT


uniprotID: Q19T08
geneSymbol: ECSCR
length: 205
go: ENSG00000249751;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cytoplasm.
name:
Endothelial cell-specific chemotaxis regulator (Apoptosis regulator through modulating IAP expression) (ARIA) (Endothelial cell-specific molecule 2)

sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; chemotaxis [GO:0006935]; negative regulation of angiogenesis [GO:0016525]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of proteasomal protein catabolic process [GO:1901800]


uniprotID: Q96F86
geneSymbol: EDC3
reactome: R-HSA-430039;
pdb: 2VC8;2WAX;2WAY;3D3J;3D3K;
length: 508
go: ENSG00000179151;
snps: rs1057517676
location: SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:16364915}. Note=Processing bodies (PB).
name:
Enhancer of mRNA-decapping protein 3 (LSM16 homolog) (YjeF N-terminal domain-containing protein 2) (YjeF_N2) (hYjeF_N2) (YjeF domain-containing protein 1)

sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; membrane [GO:0016020]; P-body [GO:0000932]; identical protein binding [GO:0042802]; mRNA binding [GO:0003729]; phosphodiesterase decapping endonuclease activity [GO:1990174]; cytoplasmic mRNA processing body assembly [GO:0033962]; deadenylation-independent decapping of nuclear-transcribed mRNA [GO:0031087]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]


uniprotID: P52798
geneSymbol: EFNA4
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
name: Ephrin-A4 (EPH-related receptor tyrosine kinase ligand 4) (LERK-4)
length: 201
go: ENSG00000243364;
sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; intrinsic component of plasma membrane [GO:0031226]; plasma membrane [GO:0005886]; ephrin receptor binding [GO:0046875]; transmembrane-ephrin receptor activity [GO:0005005]; axon guidance [GO:0007411]; bone remodeling [GO:0046849]; cell-cell signaling [GO:0007267]; ephrin receptor signaling pathway [GO:0048013]; osteoclast differentiation [GO:0030316]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=GPI-anchored; IsoId=P52798-1; Sequence=Displayed; Name=2; Synonyms=Secreted; IsoId=P52798-2; Sequence=VSP_001448; Name=3; IsoId=P52798-3; Sequence=VSP_046707; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Lipid-anchor, GPI-anchor.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: Q96PV7
geneSymbol: FAM193B
name: Protein FAM193B
length: 902
go: ENSG00000146067;
opentargets: cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]
snps: rs337382
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96PV7-1; Sequence=Displayed; Name=2; IsoId=Q96PV7-2; Sequence=VSP_034780; Name=3; IsoId=Q96PV7-3; Sequence=VSP_047164; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21177767}. Nucleus {ECO:0000269|PubMed:21177767}. Note=Partly colocalized with an endoplasmic reticulum marker, HSP90B1. Shuttles between nucleus and cytoplasm.


uniprotID: Q9UPT5
geneSymbol: EXOC7
reactome: R-HSA-1445148;R-HSA-264876;R-HSA-5620916;
name: Exocyst complex component 7 (Exocyst complex component Exo70)
length: 735
go: ENSG00000182473;
sequence:

opentargets:
centriolar satellite [GO:0034451]; cytosol [GO:0005829]; exocyst [GO:0000145]; Flemming body [GO:0090543]; growth cone membrane [GO:0032584]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; plasma membrane [GO:0005886]; exocytosis [GO:0006887]; protein transport [GO:0015031]; regulation of entry of bacterium into host cell [GO:2000535]; regulation of macroautophagy [GO:0016241]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=3; IsoId=Q9UPT5-3; Sequence=Displayed; Note=No experimental confirmation available.; Name=1; IsoId=Q9UPT5-1; Sequence=VSP_008878; Name=2; IsoId=Q9UPT5-2; Sequence=VSP_001483; Name=4; IsoId=Q9UPT5-4; Sequence=VSP_008876, VSP_008877; Note=May be due to intron retention. No experimental confirmation available.; Name=5; IsoId=Q9UPT5-5; Sequence=VSP_041098; Name=6; IsoId=Q9UPT5-6; Sequence=VSP_041099; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:O35250}. Cell membrane {ECO:0000250|UniProtKB:O35250}; Peripheral membrane protein {ECO:0000305}. Midbody, Midbody ring {ECO:0000269|PubMed:16213214}. Note=Translocates, as a preformed complex with EXOC3/SEC6 and EXOC4/SEC8, to the plasma membrane in response to insulin through the activation of ARHQ (By similarity). Colocalizes with CNTRL/centriolin at the midbody ring (PubMed:16213214). {ECO:0000250|UniProtKB:O35250, ECO:0000269|PubMed:16213214}.


uniprotID: P12724
geneSymbol: RNASE3
reactome: R-HSA-6798695;R-HSA-6803157;
pdb: 1DYT;1H1H;1QMT;2KB5;2LVZ;4A2O;4A2Y;4OWZ;4OXB;4OXF;4X08;
name: Eosinophil cationic protein (ECP) (EC 3.1.27.-) (Ribonuclease 3) (RNase 3)
length: 160
go: ENSG00000169397;
drug: DB02098;DB04272;DB01411;
snps: rs151169198 rs2073342 rs12147890
sequence:
MVPKLFTSQICLLLLLGLMGVEGSLHARPPQFTRAQWFAIQHISLNPPRCTIAMRAINNYRWRCKNQNTFLRTTFANVVNVCGNQSIRCPHNRTLNNCHRSRFRVPLLHCDLINPGAQNISNCTYADRPGRRFYVVACDNRDPRDSPRYPVVPVHLDTTI

opentargets:
azurophil granule lumen [GO:0035578]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; endonuclease activity [GO:0004519]; lipopolysaccharide binding [GO:0001530]; nucleic acid binding [GO:0003676]; ribonuclease activity [GO:0004540]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; induction of bacterial agglutination [GO:0043152]; innate immune response [GO:0045087]; innate immune response in mucosa [GO:0002227]; neutrophil degranulation [GO:0043312]; RNA catabolic process [GO:0006401]

location:
SUBCELLULAR LOCATION: Secreted. Note=Located in the matrix of eosinophil large specific granule, which are released following activation by an immune stimulus.


uniprotID: P26641
geneSymbol: EEF1G
reactome: R-HSA-156842;
pdb: 1PBU;5DQS;5JPO;
name: Elongation factor 1-gamma (EF-1-gamma) (eEF-1B gamma)
length: 437
go: ENSG00000254772;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; translation elongation factor activity [GO:0003746]; response to virus [GO:0009615]; translational elongation [GO:0006414]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P26641-1; Sequence=Displayed; Name=2; IsoId=P26641-2; Sequence=VSP_056204; Note=No experimental confirmation available.; 


uniprotID: P68104
geneSymbol: EEF1A1
reactome: R-HSA-156842;R-HSA-156902;R-HSA-3371511;R-HSA-6798695;R-HSA-8876725;
pdb: 1SYW;3C5J;
length: 462
go: ENSG00000156508;
drug: DB04315;
name:
Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor Tu) (EF-Tu) (Eukaryotic elongation factor 1 A-1) (eEF1A-1) (Leukocyte receptor cluster member 7)

sequence:

opentargets:
cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytoplasmic side of lysosomal membrane [GO:0098574]; cytosol [GO:0005829]; eukaryotic translation elongation factor 1 complex [GO:0005853]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; secretory granule lumen [GO:0034774]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; translation elongation factor activity [GO:0003746]; tRNA binding [GO:0000049]; cellular response to epidermal growth factor stimulus [GO:0071364]; neutrophil degranulation [GO:0043312]; regulation of chaperone-mediated autophagy [GO:1904714]; translation [GO:0006412]; translational elongation [GO:0006414]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P68104-1; Sequence=Displayed; Name=2; IsoId=P68104-2; Sequence=VSP_057184; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19158340, ECO:0000269|PubMed:8650580}. Nucleus {ECO:0000269|PubMed:17177976, ECO:0000269|PubMed:8650580}. Nucleus, nucleolus {ECO:0000269|PubMed:8650580}. Cell membrane {ECO:0000269|PubMed:26497934}. Note=Colocalizes with DLC1 at actin-rich regions in the cell periphery (PubMed:19158340). Translocates together with ZPR1 from the cytoplasm to the nucleus and nucleolus after treatment with mitogens (PubMed:8650580). Localization at the cell membrane depends on EEF1A1 phosphorylation status and the presence of PPP1R16B (PubMed:26497934). {ECO:0000269|PubMed:19158340, ECO:0000269|PubMed:26497934, ECO:0000269|PubMed:8650580}.


uniprotID: Q8WVE0
geneSymbol: EEF1AKMT1
reactome: R-HSA-8876725;
length: 214
go: ENSG00000150456;
snps: rs11549810
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03187}.
name:
EEF1A lysine methyltransferase 1 (EC 2.1.1.-) (N(6)-adenine-specific DNA methyltransferase 2) (Protein-lysine N-methyltransferase N6AMT2)

sequence:

opentargets:
cytosol [GO:0005829]; methyltransferase activity [GO:0008168]; nucleic acid binding [GO:0003676]; protein-lysine N-methyltransferase activity [GO:0016279]; peptidyl-lysine methylation [GO:0018022]; protein methylation [GO:0006479]


uniprotID: P0DPD8
geneSymbol: EEF1AKMT4-ECE2
length: 883
name:
EEF1AKMT4-ECE2 readthrough transcript protein (EC 3.4.24.71) [Includes: Methyltransferase-like region (EC 2.1.1.-); Endothelin-converting enzyme 2 region (EC 3.4.24.71)]

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; transport vesicle membrane [GO:0030658]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; methyltransferase activity [GO:0008168]; peptide hormone processing [GO:0016486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=EEF1AKMT4-ECE2-1; Synonyms=ECE-2A {ECO:0000303|PubMed:11718899}; IsoId=P0DPD8-1, O60344-1; Sequence=Displayed; Note=Based on a naturally occurring readthrough transcript which produces an EEF1AKMT4-ECE2 fusion protein. {ECO:0000305}; Name=ECE2-1; Synonyms=ECE2-2C; IsoId=P0DPD6-4, O60344-5; Sequence=External; Name=ECE2-2; Synonyms=ECE-2B; IsoId=P0DPD6-2, O60344-2; Sequence=External; Name=ECE2-3; IsoId=P0DPD6-3, O60344-3; Sequence=External; Name=EEF1AKMT4-1; IsoId=P0DPD7-4, O60344-4; Sequence=External; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:P0DPE2}; Single-pass membrane protein {ECO:0000250|UniProtKB:P0DPE2}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:P0DPE2}.


uniprotID: Q15075
geneSymbol: EEA1
reactome: R-HSA-168138;
pdb: 1HYI;1HYJ;1JOC;3MJH;
length: 1411
go: ENSG00000102189;
snps: rs10745623
location: SUBCELLULAR LOCATION: Cytoplasm. Early endosome membrane; Peripheral membrane protein.
name:
Early endosome antigen 1 (Endosome-associated protein p162) (Zinc finger FYVE domain-containing protein 2)

sequence:

opentargets:
axonal spine [GO:0044308]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; extracellular exosome [GO:0070062]; extrinsic component of plasma membrane [GO:0019897]; membrane [GO:0016020]; presynapse [GO:0098793]; recycling endosome [GO:0055037]; serine-pyruvate aminotransferase complex [GO:0005969]; 1-phosphatidylinositol binding [GO:0005545]; calmodulin binding [GO:0005516]; GTP-dependent protein binding [GO:0030742]; nucleic acid binding [GO:0003676]; protein homodimerization activity [GO:0042803]; zinc ion binding [GO:0008270]; early endosome to late endosome transport [GO:0045022]; endocytosis [GO:0006897]; synaptic vesicle to endosome fusion [GO:0016189]; vesicle fusion [GO:0006906]; viral RNA genome replication [GO:0039694]


uniprotID: Q96RP9
geneSymbol: GFM1
reactome: R-HSA-5389840;
length: 751
go: ENSG00000168827;
snps: rs119470018 rs2303909 rs139430866 rs119470020
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03061}.
name:
Elongation factor G, mitochondrial (EF-Gmt) (Elongation factor G 1, mitochondrial) (mEF-G 1) (Elongation factor G1) (hEFG1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; RNA binding [GO:0003723]; translation elongation factor activity [GO:0003746]; mitochondrial translational elongation [GO:0070125]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96RP9-1; Sequence=Displayed; Name=2; IsoId=Q96RP9-2; Sequence=VSP_038189; Note=No experimental confirmation available.; 


uniprotID: O75530
geneSymbol: EED
reactome: R-HSA-212300;R-HSA-2559580;R-HSA-3214841;R-HSA-5617472;R-HSA-8943724;R-HSA-8953750;
length: 441
go: ENSG00000074266;
snps: rs1131692176 rs1131692174 rs1131692175 rs1131692173
pdb:
3IIW;3IIY;3IJ0;3IJ1;3IJC;3JPX;3JZG;3JZH;3JZN;3K26;3K27;4W2R;4X3E;5GSA;5H13;5H14;5H15;5H17;5H19;5H24;5H25;5HYN;5IJ7;5IJ8;5K0M;5LS6;5TTW;5U5H;5U5K;5U5T;5U62;5U69;5U6D;5U8A;5U8F;5WG6;5WP3;5WUK;6B3W;6C23;6C24;

name:
Polycomb protein EED (hEED) (Embryonic ectoderm development protein) (WD protein associating with integrin cytoplasmic tails 1) (WAIT-1)

sequence:

opentargets:
cytosol [GO:0005829]; ESC/E(Z) complex [GO:0035098]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pronucleus [GO:0045120]; sex chromatin [GO:0001739]; chromatin binding [GO:0003682]; histone methyltransferase activity [GO:0042054]; identical protein binding [GO:0042802]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cellular response to leukemia inhibitory factor [GO:1990830]; chromatin silencing [GO:0006342]; histone H3-K27 methylation [GO:0070734]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of histone H3-K27 methylation [GO:0061087]; regulation of adaxial/abaxial pattern formation [GO:2000011]; regulation of gene expression by genetic imprinting [GO:0006349]; spinal cord development [GO:0021510]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Comment=Additional isoforms may be produced by alternative initiation, both from non-canonical start codons upstream of the initiator methionine displayed and from other canonical start codons downstream of that displayed (PubMed:15099518 and PubMed:15684044). The precise sites of translation initiation have not been unambiguously identified.; Name=1; IsoId=O75530-1; Sequence=Displayed; Name=2; IsoId=O75530-2; Sequence=VSP_034691; Name=3; IsoId=O75530-3; Sequence=VSP_034692; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Transiently colocalizes with XIST at inactive X chromosomes.


uniprotID: P52803
geneSymbol: EFNA5
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
pdb: 2X11;3MX0;4BK5;4BKA;4L0P;4M4R;
name: Ephrin-A5 (AL-1) (EPH-related receptor tyrosine kinase ligand 7) (LERK-7)
length: 228
go: ENSG00000184349;
snps: rs469062
sequence:

opentargets:
adherens junction [GO:0005912]; anchored component of external side of plasma membrane [GO:0031362]; basement membrane [GO:0005604]; caveola [GO:0005901]; GABA-ergic synapse [GO:0098982]; plasma membrane [GO:0005886]; chemorepellent activity [GO:0045499]; ephrin receptor binding [GO:0046875]; neurotrophin TRKA receptor binding [GO:0005168]; neurotrophin TRKB receptor binding [GO:0005169]; neurotrophin TRKC receptor binding [GO:0005170]; transmembrane receptor protein tyrosine kinase activator activity [GO:0030297]; axon guidance [GO:0007411]; cellular response to follicle-stimulating hormone stimulus [GO:0071372]; cellular response to forskolin [GO:1904322]; collateral sprouting [GO:0048668]; ephrin receptor signaling pathway [GO:0048013]; negative regulation of substrate adhesion-dependent cell spreading [GO:1900025]; nervous system development [GO:0007399]; positive regulation of collateral sprouting [GO:0048672]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of synapse assembly [GO:0051965]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cell morphogenesis [GO:0022604]; regulation of cell-cell adhesion [GO:0022407]; regulation of focal adhesion assembly [GO:0051893]; regulation of GTPase activity [GO:0043087]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; regulation of microtubule cytoskeleton organization [GO:0070507]; retinal ganglion cell axon guidance [GO:0031290]; synaptic membrane adhesion [GO:0099560]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11870224}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:11870224}. Membrane, caveola {ECO:0000269|PubMed:11870224}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:11870224}. Note=Compartmentalized in discrete caveolae-like membrane microdomains.


uniprotID: O60645
geneSymbol: EXOC3
reactome: R-HSA-1445148;R-HSA-264876;R-HSA-5620916;
name: Exocyst complex component 3 (Exocyst complex component Sec6)
length: 756
go: ENSG00000180104;
sequence:

opentargets:
cytosol [GO:0005829]; exocyst [GO:0000145]; Golgi apparatus [GO:0005794]; growth cone [GO:0030426]; midbody [GO:0030496]; perinuclear region of cytoplasm [GO:0048471]; presynaptic membrane [GO:0042734]; secretory granule membrane [GO:0030667]; cadherin binding [GO:0045296]; SNARE binding [GO:0000149]; exocyst localization [GO:0051601]; exocytosis [GO:0006887]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60645-1; Sequence=Displayed; Name=2; IsoId=O60645-2; Sequence=VSP_001482; Note=No experimental confirmation available.; Name=3; IsoId=O60645-3; Sequence=VSP_046235; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O54921}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:O54921}. Cell projection, growth cone {ECO:0000250|UniProtKB:O54921}. Midbody {ECO:0000269|PubMed:18756269}. Golgi apparatus {ECO:0000305|PubMed:18756269}. Note=Perinuclear in undifferentiated cells. Redistributes to growing neurites and growth cones during neuronal differentiation (By similarity). During mitosis, early recruitment to the midbody requires RALA, but not RALB, and EXOC2. In late stages of cytokinesis, localization to the midbody is RALB-dependent (PubMed:18756269). {ECO:0000250|UniProtKB:O54921, ECO:0000269|PubMed:18756269}.


uniprotID: Q96MZ4
geneSymbol: FAM218A
name: Protein FAM218A
length: 157
go: ENSG00000250486;
snps: rs3733418
sequence:
MEGCAVRRGSCPLLPGPSAWRASPAGWAGRAKLRSWCRASGLPNRPYTLTGGRHGSVSLLRHPGTTTFVQQRSLHQSWEKRIVFSACPVSRSWCPERNFSGSIPAVTPPKLPGHSKSEGPPGKVRKRTTIRSQPLFVTRTRGFGSAVGWLPLGSPVL


uniprotID: Q5XKR9
geneSymbol: FAM104B
name: Protein FAM104B
length: 115
go: ENSG00000182518;
snps: rs1047037
sequence:
MGGCPVRKRRRNGSKEGNHHSTQPKRNKRNPIFQDSQDTEFSWSDNERSSSRINIPERASGPEGNLNQIVTEPDANFPQFLHEGLSKPVYVINWFMSFGPEIKLNTSQQGRNQAV

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q5XKR9-1; Sequence=Displayed; Name=2; IsoId=Q5XKR9-2; Sequence=VSP_019078; Name=3; IsoId=Q5XKR9-3; Sequence=VSP_019078, VSP_019079; Name=4; IsoId=Q5XKR9-4; Sequence=VSP_044976, VSP_019079; Note=No experimental confirmation available.; Name=5; IsoId=Q5XKR9-5; Sequence=VSP_046645; Note=No experimental confirmation available.; Name=6; IsoId=Q5XKR9-6; Sequence=VSP_046644, VSP_019079; Note=No experimental confirmation available.; 


uniprotID: A0A1B0GTK4
geneSymbol: FAM237A
name: Protein FAM237A
length: 181
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:
MADPGNRGGIHRPLSFTCSLLIVGMCCVSPFFCHSQTDLLALSQADPQCWESSSVLLLEMWKPRVSNTVSGFWDFMIYLKSSENLKHGALFWDLAQLFWDIYVDCVLSRNHGLGRRQLVGEEEKISAAQPQHTRSKQGTYSQLLRTSFLKKKELIEDLISMHVRRSGSSVIGKVNLEIKRK


uniprotID: Q6UWH4
geneSymbol: FAM198B
name: Protein FAM198B (Expressed in nerve and epithelium during development)
length: 519
go: ENSG00000164125;
snps: rs17857283
sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UWH4-1; Sequence=Displayed; Name=2; IsoId=Q6UWH4-2; Sequence=VSP_025795; Name=3; IsoId=Q6UWH4-3; Sequence=VSP_025794, VSP_025796; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305|PubMed:11256614}; Single-pass type II membrane protein {ECO:0000305|PubMed:11256614}.


uniprotID: A8MWA6
geneSymbol: FAM90A22P
name: Putative protein FAM90A22P
length: 464
sequence:


uniprotID: P00749
geneSymbol: PLAU
reactome: R-HSA-6798695;R-HSA-75205;
length: 431
snps: rs2227580 rs2227564 rs2227567
location: SUBCELLULAR LOCATION: Secreted.
pdb:
1C5W;1C5X;1C5Y;1C5Z;1EJN;1F5K;1F5L;1F92;1FV9;1GI7;1GI8;1GI9;1GJ7;1GJ8;1GJ9;1GJA;1GJB;1GJC;1GJD;1KDU;1LMW;1O3P;1O5A;1O5B;1O5C;1OWD;1OWE;1OWH;1OWI;1OWJ;1OWK;1SC8;1SQA;1SQO;1SQT;1U6Q;1URK;1VJ9;1VJA;1W0Z;1W10;1W11;1W12;1W13;1W14;2FD6;2I9A;2I9B;2NWN;2O8T;2O8U;2O8W;2R2W;2VIN;2VIO;2VIP;2VIQ;2VIV;2VIW;2VNT;3BT1;3BT2;3IG6;3KGP;3KHV;3KID;3M61;3MHW;3MWI;3OX7;3OY5;3OY6;3PB1;3QN7;3U73;4DVA;4DW2;4FU7;4FU8;4FU9;4FUB;4FUC;4FUD;4FUE;4FUF;4FUG;4FUH;4FUI;4FUJ;4GLY;4H42;4JK5;4JK6;4JNI;4JNL;4K24;4MNV;4MNW;4MNX;4MNY;4OS1;4OS2;4OS4;4OS5;4OS6;4OS7;4X0W;4X1N;4X1P;4X1Q;4X1R;4X1S;4XSK;4ZHL;4ZHM;4ZKN;4ZKO;4ZKR;4ZKS;5HGG;5WXF;5WXO;5WXP;5WXQ;5WXR;5WXS;5WXT;5XG4;

name:
Urokinase-type plasminogen activator (U-plasminogen activator) (uPA) (EC 3.4.21.73) [Cleaved into: Urokinase-type plasminogen activator long chain A; Urokinase-type plasminogen activator short chain A; Urokinase-type plasminogen activator chain B]

sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; serine-type endopeptidase activity [GO:0004252]; blood coagulation [GO:0007596]; chemotaxis [GO:0006935]; fibrinolysis [GO:0042730]; neutrophil degranulation [GO:0043312]; plasminogen activation [GO:0031639]; positive regulation of cell migration [GO:0030335]; proteolysis [GO:0006508]; regulation of cell adhesion mediated by integrin [GO:0033628]; regulation of cell proliferation [GO:0042127]; regulation of signaling receptor activity [GO:0010469]; regulation of smooth muscle cell migration [GO:0014910]; regulation of smooth muscle cell-matrix adhesion [GO:2000097]; regulation of wound healing [GO:0061041]; response to hypoxia [GO:0001666]; signal transduction [GO:0007165]; smooth muscle cell migration [GO:0014909]

drug:
DB07122;DB01905;DB06854;DB02193;DB03729;DB03136;DB01977;DB07076;DB03082;DB02398;DB03865;DB06855;DB06856;DB03046;DB04059;DB00594;DB03127;DB02526;DB03159;DB03782;DB06857;DB05254;DB03476;DB00013;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P00749-1; Sequence=Displayed; Name=2; IsoId=P00749-2; Sequence=VSP_038368; 


uniprotID: Q5DID0
geneSymbol: UMODL1
name: Uromodulin-like 1 (Olfactorin)
length: 1318
go: ENSG00000177398;
sequence:

opentargets:
cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]; peptidase inhibitor activity [GO:0030414]; adipose tissue development [GO:0060612]; cellular response to gonadotropin-releasing hormone [GO:0097211]; multicellular organismal reproductive process [GO:0048609]; regulation of apoptotic process [GO:0042981]; regulation of gene expression [GO:0010468]; regulation of ovarian follicle development [GO:2000354]; single fertilization [GO:0007338]

snps:
rs73371577 rs17114359 rs17114359 rs146310440 rs220126 rs220129 rs220130 rs220146 rs150611312 rs111996953 rs80040922 rs220159 rs3819142 rs220127 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist expressed specifically in testis.; Name=1; IsoId=Q5DID0-1; Sequence=Displayed; Name=2; IsoId=Q5DID0-2; Sequence=VSP_017659; Name=3; Synonyms=UMOLD1S; IsoId=Q5DID0-3; Sequence=VSP_017658; Name=4; Synonyms=UMOLD1L; IsoId=Q5DID0-4; Sequence=VSP_017658, VSP_017659; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15194491}; Single-pass type I membrane protein {ECO:0000269|PubMed:15194491}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm.


uniprotID: Q5W0Q7
geneSymbol: USPL1
length: 1092
go: ENSG00000132952;
snps: rs17853512 rs3742303 rs17609459 rs7984952 rs41412648 rs9578190 rs35371042 rs3742302 rs17857086
name:
SUMO-specific isopeptidase USPL1 (EC 3.4.22.-) (Ubiquitin-specific peptidase-like protein 1) (USP-like 1)

sequence:

opentargets:
Cajal body [GO:0015030]; extracellular space [GO:0005615]; SUMO binding [GO:0032183]; SUMO-specific isopeptidase activity [GO:0070140]; Cajal body organization [GO:0030576]; cell proliferation [GO:0008283]; protein desumoylation [GO:0016926]; snRNA transcription [GO:0009301]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5W0Q7-1; Sequence=Displayed; Name=2; IsoId=Q5W0Q7-2; Sequence=VSP_023479; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, Cajal body {ECO:0000269|PubMed:22878415, ECO:0000269|PubMed:24413172}.


uniprotID: Q9NRH1
geneSymbol: YAE1
name: Protein YAE1 homolog (Yae1 domain-containing protein 1)
length: 226
go: ENSG00000241127;
snps: rs6947660
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; protein maturation by [4Fe-4S] cluster transfer [GO:0106035]; ribosomal large subunit biogenesis [GO:0042273]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRH1-1; Sequence=Displayed; Name=2; IsoId=Q9NRH1-2; Sequence=VSP_055295, VSP_055296; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P47118}. Nucleus {ECO:0000250|UniProtKB:P47118}.


uniprotID: Q9BRU9
geneSymbol: UTP23
name: rRNA-processing protein UTP23 homolog
length: 249
go: ENSG00000147679;
snps: rs16888722 rs1133950 rs16888728
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:

opentargets:
nucleolus [GO:0005730]; small-subunit processome [GO:0032040]; mRNA 3'-UTR binding [GO:0003730]; mRNA 5'-UTR binding [GO:0048027]; RNA binding [GO:0003723]; small ribosomal subunit rRNA binding [GO:0070181]; endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000480]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRU9-1; Sequence=Displayed; Name=2; IsoId=Q9BRU9-2; Sequence=VSP_024874, VSP_024875; Note=No experimental confirmation available.; 


uniprotID: Q9UBK9
geneSymbol: UXT
reactome: R-HSA-8953750;
length: 157
go: ENSG00000126756;
name:
Protein UXT (Androgen receptor trapped clone 27 protein) (ART-27) (Ubiquitously expressed transcript protein)

sequence:
MATPPKRRAVEATGEKVLRYETFISDVLQRDLRKVLDHRDKVYEQLAKYLQLRNVIERLQEAKHSELYMQVDLGCNFFVDTVVPDTSRIYVALGYGFFLELTLAEALKFIDRKSSLLTELSNSLTKDSMNIKAHIHMLLEGLRELQGLQNFPEKPHH

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle pole [GO:0000922]; beta-tubulin binding [GO:0048487]; chromatin binding [GO:0003682]; microtubule binding [GO:0008017]; transcription corepressor activity [GO:0003714]; apoptotic process [GO:0006915]; centrosome cycle [GO:0007098]; microtubule cytoskeleton organization [GO:0000226]; mitochondrion transport along microtubule [GO:0047497]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=UXT-V2 {ECO:0000303|PubMed:21307340}; IsoId=Q9UBK9-1; Sequence=Displayed; Name=1; Synonyms=UXT-V1 {ECO:0000303|PubMed:21307340}; IsoId=Q9UBK9-2; Sequence=VSP_059081; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:21307340}.; SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21307340, ECO:0000305|PubMed:28106301}. Nucleus {ECO:0000269|PubMed:11854421, ECO:0000269|PubMed:17620405, ECO:0000269|PubMed:21307340, ECO:0000305|PubMed:28106301}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16221885}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16221885}. Note=Predominantly localizes to the nucleus (PubMed:16221885). Localizes to spindle pole during mitosis (PubMed:16221885). {ECO:0000269|PubMed:16221885, ECO:0000269|PubMed:21307340}.


uniprotID: P37288
geneSymbol: AVPR1A
reactome: R-HSA-388479;R-HSA-416476;R-HSA-5619099;
pdb: 1YTV;
length: 418
go: ENSG00000166148;
drug: DB00872;DB00035;DB00093;DB05452;DB02638;DB06212;DB00067;
snps: rs2228154
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Vasopressin V1a receptor (V1aR) (AVPR V1a) (Antidiuretic hormone receptor 1a) (Vascular/hepatic-type arginine vasopressin receptor)

sequence:

opentargets:
endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; peptide hormone binding [GO:0017046]; protein kinase C binding [GO:0005080]; V1A vasopressin receptor binding [GO:0031894]; vasopressin receptor activity [GO:0005000]; activation of phospholipase C activity [GO:0007202]; blood circulation [GO:0008015]; calcium-mediated signaling [GO:0019722]; cellular response to hormone stimulus [GO:0032870]; cellular response to water deprivation [GO:0042631]; G protein-coupled receptor signaling pathway [GO:0007186]; generation of precursor metabolites and energy [GO:0006091]; grooming behavior [GO:0007625]; maternal aggressive behavior [GO:0002125]; maternal behavior [GO:0042711]; myotube differentiation [GO:0014902]; negative regulation of female receptivity [GO:0007621]; negative regulation of transmission of nerve impulse [GO:0051970]; penile erection [GO:0043084]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular pH reduction [GO:0032849]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of glutamate secretion [GO:0014049]; positive regulation of heart rate [GO:0010460]; positive regulation of prostaglandin biosynthetic process [GO:0031394]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of systemic arterial blood pressure [GO:0003084]; positive regulation of vasoconstriction [GO:0045907]; regulation of systemic arterial blood pressure by vasopressin [GO:0001992]; response to corticosterone [GO:0051412]; social behavior [GO:0035176]; sperm ejaculation [GO:0042713]; telencephalon development [GO:0021537]


uniprotID: P47901
geneSymbol: AVPR1B
reactome: R-HSA-388479;R-HSA-416476;R-HSA-5619099;
length: 424
go: ENSG00000198049;
drug: DB00035;DB05452;DB05455;DB02638;DB00067;
snps: rs35369693 rs33990840 rs3891058 rs36030374 rs28632197
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Vasopressin V1b receptor (V1bR) (AVPR V1b) (AVPR V3) (Antidiuretic hormone receptor 1b) (Vasopressin V3 receptor)

sequence:

opentargets:
endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; protein kinase C binding [GO:0005080]; vasopressin receptor activity [GO:0005000]; activation of phospholipase C activity [GO:0007202]; cellular response to hormone stimulus [GO:0032870]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of vasoconstriction [GO:0045907]; regulation of systemic arterial blood pressure by vasopressin [GO:0001992]


uniprotID: Q8N8Y2
geneSymbol: ATP6V0D2
reactome: R-HSA-1222556;R-HSA-77387;R-HSA-917977;R-HSA-983712;
name: V-type proton ATPase subunit d 2 (V-ATPase subunit d 2) (Vacuolar proton pump subunit d 2)
length: 350
go: ENSG00000147614;
snps: rs10094744 rs4263741
sequence:

opentargets:
apical plasma membrane [GO:0016324]; early endosome [GO:0005769]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; phagocytic vesicle membrane [GO:0030670]; plasma membrane proton-transporting V-type ATPase complex [GO:0033181]; proton-transporting V-type ATPase, V0 domain [GO:0033179]; vacuolar proton-transporting V-type ATPase complex [GO:0016471]; proton-exporting ATPase activity, phosphorylative mechanism [GO:0008553]; proton-transporting ATPase activity, rotational mechanism [GO:0046961]; ATP hydrolysis coupled proton transport [GO:0015991]; insulin receptor signaling pathway [GO:0008286]; ion transmembrane transport [GO:0034220]; regulation of macroautophagy [GO:0016241]; transferrin transport [GO:0033572]; vacuolar acidification [GO:0007035]; vacuolar transport [GO:0007034]


uniprotID: Q8NHE4
geneSymbol: ATP6V0E2
reactome: R-HSA-1222556;R-HSA-77387;R-HSA-917977;R-HSA-983712;
sequence: MTAHSFALPVIIFTTFWGLVGIAGPWFVPKGPNRGVIITMLVATAVCCYLFWLIAILAQLNPLFGPQLKNETIWYVRFLWE
length: 81
go: ENSG00000171130;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
V-type proton ATPase subunit e 2 (V-ATPase subunit e 2) (Lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2) (Vacuolar proton pump subunit e 2)

opentargets:
endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; phagocytic vesicle membrane [GO:0030670]; proton-transporting V-type ATPase, V0 domain [GO:0033179]; ATPase coupled ion transmembrane transporter activity [GO:0042625]; proton-transporting ATPase activity, rotational mechanism [GO:0046961]; ATP hydrolysis coupled proton transport [GO:0015991]; insulin receptor signaling pathway [GO:0008286]; ion transmembrane transport [GO:0034220]; proton transmembrane transport [GO:1902600]; regulation of macroautophagy [GO:0016241]; transferrin transport [GO:0033572]; transmembrane transport [GO:0055085]; vacuolar acidification [GO:0007035]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NHE4-1; Sequence=Displayed; Name=2; IsoId=Q8NHE4-2; Sequence=VSP_027104; Name=3; IsoId=Q8NHE4-3; Sequence=VSP_027105; Note=May be due to a competing donor splice site.; Name=4; IsoId=Q8NHE4-4; Sequence=VSP_044857; Note=No experimental confirmation available.; 


uniprotID: Q08AM6
geneSymbol: VAC14
reactome: R-HSA-1660514;R-HSA-1660516;R-HSA-1660517;
name: Protein VAC14 homolog (Tax1-binding protein 2)
length: 782
go: ENSG00000103043;
snps: rs762388639 rs749094914 rs879255645
sequence:

opentargets:
early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; endosome membrane [GO:0010008]; extrinsic component of vacuolar membrane [GO:0000306]; Golgi membrane [GO:0000139]; late endosome membrane [GO:0031902]; PAS complex [GO:0070772]; signaling receptor activity [GO:0038023]; phosphatidylinositol biosynthetic process [GO:0006661]; signal transduction [GO:0007165]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q08AM6-1; Sequence=Displayed; Name=2; IsoId=Q08AM6-2; Sequence=VSP_056097; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:15542851, ECO:0000269|PubMed:17556371}. Microsome membrane {ECO:0000250}. Note=Mainly associated with membranes of the late endocytic pathway.


uniprotID: Q16572
geneSymbol: SLC18A3
reactome: R-HSA-264642;R-HSA-8856825;R-HSA-8856828;
name: Vesicular acetylcholine transporter (VAChT) (Solute carrier family 18 member 3)
length: 532
go: ENSG00000187714;
snps: rs8187732 rs8187733 rs8187734 rs1057517665 rs1057517666 rs8187730
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:

opentargets:
AP-1 adaptor complex [GO:0030121]; AP-2 adaptor complex [GO:0030122]; clathrin-coated vesicle membrane [GO:0030665]; clathrin-sculpted acetylcholine transport vesicle membrane [GO:0060201]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; terminal bouton [GO:0043195]; acetylcholine transmembrane transporter activity [GO:0005277]; membrane organization [GO:0061024]; neurotransmitter secretion [GO:0007269]


uniprotID: P63027
geneSymbol: VAMP2
pdb: 3FIE;3FII;3RK2;3RK3;3RL0;
name: Vesicle-associated membrane protein 2 (VAMP-2) (Synaptobrevin-2)
length: 116
go: ENSG00000220205;
drug: DB00042;
reactome:
R-HSA-1445148;R-HSA-181429;R-HSA-181430;R-HSA-210500;R-HSA-212676;R-HSA-264642;R-HSA-264876;R-HSA-421837;R-HSA-422356;R-HSA-432720;R-HSA-432722;R-HSA-449836;R-HSA-5250955;R-HSA-5250958;R-HSA-5250981;R-HSA-5250982;R-HSA-5250989;R-HSA-8856825;R-HSA-8856828;R-HSA-888590;

sequence:
MSATAATAPPAAPAGEGGPPAPPPNLTSNRRLQQTQAQVDEVVDIMRVNVDKVLERDQKLSELDDRADALQAGASQFETSAAKLKRKYWWKNLKMMIILGVICAIILIIIIVYFST

opentargets:
cell junction [GO:0030054]; clathrin-coated vesicle [GO:0030136]; clathrin-coated vesicle membrane [GO:0030665]; clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane [GO:0061202]; clathrin-sculpted glutamate transport vesicle membrane [GO:0060203]; clathrin-sculpted monoamine transport vesicle membrane [GO:0070083]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; neuron projection [GO:0043005]; neuron projection terminus [GO:0044306]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; secretory granule [GO:0030141]; secretory granule membrane [GO:0030667]; SNARE complex [GO:0031201]; synapse [GO:0045202]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; synaptobrevin 2-SNAP-25-syntaxin-1a complex [GO:0070044]; synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex [GO:0070032]; synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex [GO:0070033]; trans-Golgi network [GO:0005802]; vesicle [GO:0031982]; zymogen granule membrane [GO:0042589]; calcium-dependent protein binding [GO:0048306]; calmodulin binding [GO:0005516]; phospholipid binding [GO:0005543]; protein self-association [GO:0043621]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; syntaxin-1 binding [GO:0017075]; calcium ion regulated exocytosis [GO:0017156]; cellular response to insulin stimulus [GO:0032869]; eosinophil degranulation [GO:0043308]; exocytosis [GO:0006887]; glutamate secretion [GO:0014047]; Golgi to plasma membrane protein transport [GO:0043001]; long-term synaptic potentiation [GO:0060291]; membrane fusion [GO:0061025]; membrane organization [GO:0061024]; positive regulation of intracellular protein transport [GO:0090316]; protein transport [GO:0015031]; protein-containing complex assembly [GO:0065003]; regulation of delayed rectifier potassium channel activity [GO:1902259]; regulation of exocytosis [GO:0017157]; regulation of vesicle-mediated transport [GO:0060627]; response to glucose [GO:0009749]; synaptic vesicle exocytosis [GO:0016079]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass type IV membrane protein. Cell junction, synapse, synaptosome. Cell membrane {ECO:0000250|UniProtKB:P63045}. Note=Neuronal synaptic vesicles. Colocalizes with PRKCZ and WDFY2 in intracellular vesicles (PubMed:17313651). {ECO:0000269|PubMed:17313651}.


uniprotID: Q15904
geneSymbol: ATP6AP1
reactome: R-HSA-77387;R-HSA-917977;R-HSA-983712;
length: 470
go: ENSG00000071553;
snps: rs878853276 rs878853278 rs878853277 rs878853275
name:
V-type proton ATPase subunit S1 (V-ATPase subunit S1) (Protein XAP-3) (V-ATPase Ac45 subunit) (V-ATPase S1 accessory protein) (Vacuolar proton pump subunit S1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; proton-transporting two-sector ATPase complex [GO:0016469]; proton-transporting V-type ATPase, V1 domain [GO:0033180]; ATP binding [GO:0005524]; proton-transporting ATP synthase activity, rotational mechanism [GO:0046933]; proton-transporting ATPase activity, rotational mechanism [GO:0046961]; Rab GTPase binding [GO:0017137]; transporter activity [GO:0005215]; ATP hydrolysis coupled proton transport [GO:0015991]; cellular iron ion homeostasis [GO:0006879]; cellular response to increased oxygen levels [GO:0036295]; establishment of organelle localization [GO:0051656]; insulin receptor signaling pathway [GO:0008286]; ion transmembrane transport [GO:0034220]; pH reduction [GO:0045851]; positive regulation of bone resorption [GO:0045780]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of exocytosis [GO:0045921]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of osteoclast development [GO:2001206]; proton transmembrane transport [GO:1902600]; transferrin transport [GO:0033572]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:27231034}; Single-pass membrane protein {ECO:0000305}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:27231034}. Note=Not detected in trans-Golgi network. {ECO:0000269|PubMed:27231034}.


uniprotID: P58557
geneSymbol: YBEY
name: Endoribonuclease YbeY (EC 3.1.-.-)
length: 167
go: ENSG00000182362;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22042635}.
sequence:
MSLVIRNLQRVIPIRRAPLRSKIEIVRRILGVQKFDLGIICVDNKNIQHINRIYRDRNVPTDVLSFPFHEHLKAGEFPQPDFPDDYNLGDIFLGVEYIFHQCKENEDYNDVLTVTATHGLCHLLGFTHGTEAEWQQMFQKEKAVLDELGRRTGTRLQPLTRGLFGGS

opentargets:
nucleus [GO:0005634]; endoribonuclease activity [GO:0004521]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; IsoId=P58557-1; Sequence=Displayed; Name=B; IsoId=P58557-2; Sequence=VSP_006723; Name=C; IsoId=P58557-3; Sequence=VSP_006721; Name=D; IsoId=P58557-4; Sequence=VSP_006722; 


uniprotID: Q9UI12
geneSymbol: ATP6V1H
reactome: R-HSA-1222556;R-HSA-167590;R-HSA-182218;R-HSA-77387;R-HSA-917977;R-HSA-983712;
length: 483
go: ENSG00000047249;
name:
V-type proton ATPase subunit H (V-ATPase subunit H) (Nef-binding protein 1) (NBP1) (Protein VMA13 homolog) (V-ATPase 50/57 kDa subunits) (Vacuolar proton pump subunit H) (Vacuolar proton pump subunit SFD)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; vacuolar proton-transporting V-type ATPase, V1 domain [GO:0000221]; enzyme regulator activity [GO:0030234]; proton-transporting ATPase activity, rotational mechanism [GO:0046961]; ATP hydrolysis coupled proton transport [GO:0015991]; endocytosis [GO:0006897]; insulin receptor signaling pathway [GO:0008286]; ion transmembrane transport [GO:0034220]; regulation of defense response to virus by virus [GO:0050690]; regulation of macroautophagy [GO:0016241]; transferrin transport [GO:0033572]; vacuolar acidification [GO:0007035]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UI12-1; Sequence=Displayed; Name=2; IsoId=Q9UI12-2; Sequence=VSP_012274; 


uniprotID: P15498
geneSymbol: VAV1
pdb: 2CRH;2LCT;2MC1;2ROR;3BJI;3KY9;
name: Proto-oncogene vav
length: 845
go: ENSG00000141968;
snps: rs36097961
reactome:
R-HSA-114604;R-HSA-1257604;R-HSA-1433557;R-HSA-193648;R-HSA-194840;R-HSA-2029482;R-HSA-2219530;R-HSA-2871796;R-HSA-2871809;R-HSA-389359;R-HSA-416482;R-HSA-4420097;R-HSA-512988;R-HSA-5218920;R-HSA-6811558;R-HSA-912631;R-HSA-983695;

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; DNA-binding transcription factor activity [GO:0003700]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; phosphotyrosine residue binding [GO:0001784]; Rac guanyl-nucleotide exchange factor activity [GO:0030676]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; cytokine-mediated signaling pathway [GO:0019221]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; integrin-mediated signaling pathway [GO:0007229]; neutrophil chemotaxis [GO:0030593]; platelet activation [GO:0030168]; positive regulation of apoptotic process [GO:0043065]; positive regulation of GTPase activity [GO:0043547]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; positive regulation of protein kinase B signaling [GO:0051897]; reactive oxygen species metabolic process [GO:0072593]; regulation of cell size [GO:0008361]; regulation of GTPase activity [GO:0043087]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; small GTPase mediated signal transduction [GO:0007264]; T cell costimulation [GO:0031295]; T cell differentiation [GO:0030217]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P15498-1; Sequence=Displayed; Name=2; IsoId=P15498-2; Sequence=VSP_047563; Note=No experimental confirmation available.; 


uniprotID: Q5SQQ9
geneSymbol: VAX1
name: Ventral anterior homeobox 1
length: 334
go: ENSG00000148704;
snps: rs387907252
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding [GO:0001162]; axon guidance [GO:0007411]; brain development [GO:0007420]; camera-type eye development [GO:0043010]; negative regulation of neuroblast proliferation [GO:0007406]; neuron migration [GO:0001764]; roof of mouth development [GO:0060021]; skeletal muscle cell differentiation [GO:0035914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5SQQ9-1; Sequence=Displayed; Name=2; IsoId=Q5SQQ9-2; Sequence=VSP_019396; 


uniprotID: Q9H321
geneSymbol: VCX3B
name: Variable charge X-linked protein 3B (Variably charged protein X-C) (VCX-C)
length: 246
go: ENSG00000205642;
opentargets: nucleolus [GO:0005730]; nucleus [GO:0005634]; brain development [GO:0007420]
snps: rs201965035
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H321-1; Sequence=Displayed; Name=2; IsoId=Q9H321-2; Sequence=VSP_054105; 


uniprotID: Q9NNX9
geneSymbol: VCX3A
length: 186
go: ENSG00000169059;
opentargets: nucleolus [GO:0005730]; nucleus [GO:0005634]; brain development [GO:0007420]
name:
Variable charge X-linked protein 3 (Variable charge protein on X with eight repeats) (VCX-8r) (Variably charged protein X-A) (VCX-A)

sequence:
MSPKPRASGPPAKATEAGKRKSSSQPSPSDPKKKTTKVAKKGKAVRRGRRGKKGAATKMAAVTAPEAESGPAAPGPSDQPSQELPQHELPPEEPVSEGTQHDPLSQESELEEPLSQESEVEEPLSQESQVEEPLSQESEVEEPLSQESQVEEPLSQESEVEEPLSQESQVEEPLSQESEMEELPSV


uniprotID: O14599
geneSymbol: BPY2; BPY2B; BPY2C
name: Testis-specific basic protein Y 2 (Basic charge, Y-linked 2) (Variably charged protein Y 2)
length: 106
go: ENSG00000183753;
sequence:
MMTLVPRARTRAGQDHYSHPCPRFSQVLLTEGIMTYCLTKNLSDVNILHRLLKNGNVRNTLLQSKVGLLTYYVKLYPGEVTLLTRPSIQMRLCCITGSVSRPRSQK

opentargets:
nucleus [GO:0005634]; HECT domain binding [GO:0032399]; single fertilization [GO:0007338]; spermatogenesis [GO:0007283]


uniprotID: P45880
geneSymbol: VDAC2
reactome: R-HSA-5689880;R-HSA-8949215;
length: 294
go: ENSG00000165637;
drug: DB01375;DB06098;
location: SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:7539795}.
name:
Voltage-dependent anion-selective channel protein 2 (VDAC-2) (hVDAC2) (Outer mitochondrial membrane protein porin 2)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; membrane raft [GO:0045121]; mitochondrial nucleoid [GO:0042645]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; pore complex [GO:0046930]; synaptic vesicle [GO:0008021]; nucleotide binding [GO:0000166]; porin activity [GO:0015288]; voltage-gated anion channel activity [GO:0008308]; anion transport [GO:0006820]; binding of sperm to zona pellucida [GO:0007339]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of protein polymerization [GO:0032272]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=P45880-3; Sequence=Displayed; Name=1; IsoId=P45880-1; Sequence=VSP_005077; Name=2; IsoId=P45880-2; Sequence=VSP_005076; 


uniprotID: Q14119
geneSymbol: VEZF1
name: Vascular endothelial zinc finger 1 (Putative transcription factor DB1) (Zinc finger protein 161)
length: 521
go: ENSG00000136451;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8035792}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; angiogenesis [GO:0001525]; cellular defense response [GO:0006968]; endothelial cell development [GO:0001885]; positive regulation of endothelial cell differentiation [GO:0045603]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]


uniprotID: O43657
geneSymbol: TSPAN6
length: 245
go: ENSG00000000003;
snps: rs1802288
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Tetraspanin-6 (Tspan-6) (A15 homolog) (Putative NF-kappa-B-activating protein 321) (T245 protein) (Tetraspanin TM4-D) (Transmembrane 4 superfamily member 6)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; cell surface receptor signaling pathway [GO:0007166]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway [GO:0039532]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]


uniprotID: Q5R3I4
geneSymbol: TTC38
name: Tetratricopeptide repeat protein 38 (TPR repeat protein 38)
length: 469
go: ENSG00000075234;
opentargets: extracellular exosome [GO:0070062]
snps: rs130642
sequence:


uniprotID: Q6SA08
geneSymbol: TSSK4
length: 328
go: ENSG00000139908;
snps: rs36036137 rs34083933 rs35468205 rs1270764 rs35244223
name:
Testis-specific serine/threonine-protein kinase 4 (TSK-4) (TSSK-4) (Testis-specific kinase 4) (EC 2.7.11.1) (Serine/threonine-protein kinase 22E)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytoplasm [GO:0005737]; motile cilium [GO:0031514]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; cell differentiation [GO:0030154]; intracellular signal transduction [GO:0035556]; multicellular organism development [GO:0007275]; positive regulation of CREB transcription factor activity [GO:0032793]; protein phosphorylation [GO:0006468]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6SA08-1; Sequence=Displayed; Name=2; IsoId=Q6SA08-2; Sequence=VSP_023560; Name=3; IsoId=Q6SA08-3; Sequence=VSP_023559; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q9D411}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q9D411}. Note=In spermatozoa, present in the sperm head and in the flagellum. {ECO:0000250|UniProtKB:Q9D411}.


uniprotID: O95858
geneSymbol: TSPAN15
name: Tetraspanin-15 (Tspan-15) (Tetraspan NET-7) (Transmembrane 4 superfamily member 15)
length: 294
go: ENSG00000099282;
sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; late endosome membrane [GO:0031902]; plasma membrane [GO:0005886]; tetraspanin-enriched microdomain [GO:0097197]; enzyme binding [GO:0019899]; cell surface receptor signaling pathway [GO:0007166]; protein localization to plasma membrane [GO:0072659]; protein maturation [GO:0051604]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26686862}; Multi-pass membrane protein {ECO:0000305}. Late endosome membrane {ECO:0000269|PubMed:26686862}.


uniprotID: Q5SRH9
geneSymbol: TTC39A
length: 613
go: ENSG00000085831;
name:
Tetratricopeptide repeat protein 39A (TPR repeat protein 39A) (Differentially expressed in MCF7 with estradiol protein 6) (DEME-6)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q5SRH9-1; Sequence=Displayed; Name=2; IsoId=Q5SRH9-2; Sequence=VSP_026348; Name=3; IsoId=Q5SRH9-3; Sequence=VSP_026349, VSP_026352, VSP_026353; Note=No experimental confirmation available.; Name=4; IsoId=Q5SRH9-4; Sequence=VSP_026350, VSP_026351; Name=5; IsoId=Q5SRH9-5; Sequence=VSP_047198, VSP_026351; Note=No experimental confirmation available.; Name=6; IsoId=Q5SRH9-6; Sequence=VSP_026351; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q8N0Z6
geneSymbol: TTC5
reactome: R-HSA-6804760;
pdb: 2XVS;
length: 440
go: ENSG00000136319;
snps: rs34675160 rs3742945
name:
Tetratricopeptide repeat protein 5 (TPR repeat protein 5) (Stress-responsive activator of p300) (Strap)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA repair [GO:0006281]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of signal transduction by p53 class mediator [GO:1901796]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Phosphorylation at Ser-203 results in nuclear localization, while unphosphorylated protein localizes to the cytoplasm. {ECO:0000250}.


uniprotID: Q9BZW7
geneSymbol: TSGA10
name: Testis-specific gene 10 protein (Testis development protein NYD-SP7)
length: 698
go: ENSG00000135951;
sequence:

opentargets:
centriole [GO:0005814]; motile cilium [GO:0031514]; neuron projection [GO:0043005]; cell projection assembly [GO:0030031]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BZW7-1; Sequence=Displayed; Name=2; IsoId=Q9BZW7-2; Sequence=VSP_054409, VSP_054410; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9Z220}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28905369}. Note=In mature spermatozoa, localizes to the centriole and midpiece (PubMed:28905369). The 27-kDa peptide associates with the fibrous sheath in mature spermatozoa and localizes to the principal piece of sperm tail, while the 55-kDa peptide localizes to the midpiece (By similarity). Detected in the cytoplasm of almost all spermatogonial cells within the seminiferous tubules (By similarity). {ECO:0000250|UniProtKB:Q9Z220, ECO:0000269|PubMed:28905369}.


uniprotID: Q9H2G4
geneSymbol: TSPYL2
reactome: R-HSA-381038;
length: 693
go: ENSG00000184205;
name:
Testis-specific Y-encoded-like protein 2 (TSPY-like protein 2) (Cell division autoantigen 1) (Cutaneous T-cell lymphoma-associated antigen se20-4) (CTCL-associated antigen se20-4) (Differentially-expressed nucleolar TGF-beta1 target protein) (Nuclear protein of 79 kDa) (NP79)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; rDNA binding [GO:0000182]; cell cycle [GO:0007049]; IRE1-mediated unfolded protein response [GO:0036498]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell growth [GO:0030308]; negative regulation of DNA replication [GO:0008156]; nucleosome assembly [GO:0006334]; regulation of protein kinase activity [GO:0045859]; regulation of signal transduction [GO:0009966]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11318608, ECO:0000269|PubMed:11395479}. Cytoplasm {ECO:0000250}. Note=Enriched in transcriptionally active regions of chromatin in neurons. {ECO:0000250}.


uniprotID: Q8N6N2
geneSymbol: TTC9B
name: Tetratricopeptide repeat protein 9B (TPR repeat protein 9B)
length: 239
go: ENSG00000174521;
snps: rs11553464
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N6N2-1; Sequence=Displayed; Name=2; IsoId=Q8N6N2-2; Sequence=VSP_026650; Note=No experimental confirmation available. May be due to an intron retention.; 


uniprotID: Q9UNY4
geneSymbol: TTF2
length: 1162
go: ENSG00000116830;
snps: rs998532 rs7535524 rs34334470 rs41276572 rs34236116
name:
Transcription termination factor 2 (EC 3.6.4.-) (Lodestar homolog) (RNA polymerase II termination factor) (Transcription release factor 2) (F2) (HuF2)

sequence:

opentargets:
cytosol [GO:0005829]; spliceosomal complex [GO:0005681]; transcription elongation factor complex [GO:0008023]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA-dependent ATPase activity [GO:0008094]; helicase activity [GO:0004386]; zinc ion binding [GO:0008270]; DNA-templated transcription, termination [GO:0006353]; mRNA processing [GO:0006397]; RNA splicing [GO:0008380]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UNY4-1; Sequence=Displayed; Name=2; IsoId=Q9UNY4-2; Sequence=VSP_015370, VSP_015371; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15125840}. Nucleus {ECO:0000269|PubMed:15125840}. Note=Cytoplasmic during interphase. Relocates to the nucleus as cells enter mitosis.


uniprotID: O43156
geneSymbol: TTI1
name: TELO2-interacting protein 1 homolog (Protein SMG10)
length: 1089
go: ENSG00000101407;
snps: rs36059660 rs1057238 rs6091654 rs1064275 rs34900517
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23263282}.
sequence:

opentargets:
cytoplasm [GO:0005737]; TORC1 complex [GO:0031931]; TORC2 complex [GO:0031932]; regulation of TOR signaling [GO:0032006]


uniprotID: O60294
geneSymbol: LCMT2
reactome: R-HSA-6782861;
length: 686
go: ENSG00000168806;
drug: DB00149;
snps: rs45552436 rs3742970 rs45593931 rs45530831
name:
tRNA wybutosine-synthesizing protein 4 (tRNA yW-synthesizing protein 4) (EC 2.1.1.290) (EC 2.3.1.231) (Leucine carboxyl methyltransferase 2) (tRNA(Phe) (7-(3-amino-3-(methoxycarbonyl)propyl)wyosine(37)-N)-methoxycarbonyltransferase) (tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine(37)-O)-methyltransferase)

sequence:

opentargets:
cytoplasm [GO:0005737]; tRNA methyltransferase activity [GO:0008175]; tRNA methylation [GO:0030488]; tRNA modification [GO:0006400]; wybutosine biosynthetic process [GO:0031591]


uniprotID: Q9NV66
geneSymbol: TYW1
reactome: R-HSA-6782861;
length: 732
go: ENSG00000198874;
snps: rs2261015 rs2949097 rs28450001
name:
S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase (EC 4.1.3.44) (Radical S-adenosyl methionine and flavodoxin domain-containing protein 1) (tRNA wybutosine-synthesizing protein 1 homolog) (tRNA-yW-synthesizing protein)

sequence:

opentargets:
4 iron, 4 sulfur cluster binding [GO:0051539]; FMN binding [GO:0010181]; metal ion binding [GO:0046872]; tRNA-4-demethylwyosine synthase activity [GO:0102521]; oxidation-reduction process [GO:0055114]; tRNA processing [GO:0008033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NV66-1; Sequence=Displayed; Name=2; IsoId=Q9NV66-2; Sequence=VSP_024066, VSP_024067; Note=No experimental confirmation available.; 


uniprotID: Q01081
geneSymbol: U2AF1
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72187;
pdb: 1JMT;
length: 240
go: ENSG00000160201;
snps: rs371769427 rs371769427 rs371246226
name:
Splicing factor U2AF 35 kDa subunit (U2 auxiliary factor 35 kDa subunit) (U2 small nuclear RNA auxiliary factor 1) (U2 snRNP auxiliary factor small subunit)

sequence:

opentargets:
Cajal body [GO:0015030]; catalytic step 2 spliceosome [GO:0071013]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; spliceosomal complex [GO:0005681]; U2AF [GO:0089701]; metal ion binding [GO:0046872]; pre-mRNA 3'-splice site binding [GO:0030628]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; RNA export from nucleus [GO:0006405]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=U2AF35a; IsoId=Q01081-1; Sequence=Displayed; Name=2; Synonyms=U2AF35b; IsoId=Q01081-2; Sequence=VSP_042665; Note=Interacts with U2AF2 and stimulates U2AF splicing activity in vitro. Less efficient than isoform 1. {ECO:0000244|PubMed:24129315}; Name=3; Synonyms=U2AF35c; IsoId=Q01081-3; Sequence=VSP_042665, VSP_042666, VSP_042667; Note=Produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000244|PubMed:24129315}; Name=4; IsoId=Q01081-4; Sequence=VSP_042664; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15096518}. Nucleus speckle {ECO:0000269|PubMed:15096518, ECO:0000269|PubMed:25311244}.


uniprotID: H0YL09
geneSymbol: UBE2Q2L
name: Putative ubiquitin-conjugating enzyme E2Q2-like protein
length: 131
sequence:
MGPAVLGQGQEGQPEARACSGLLQPPKRPIVFKEKLTMKTDSLMEEKLECSLWCCLSDPSIPGRCCVLERRIVPWMQQESYSSSSPIWSVDSDEPNLTSVLERLEDTKENSSVRKETKLFSLFLMNIIFRN


uniprotID: O43818
geneSymbol: RRP9
reactome: R-HSA-6790901;R-HSA-6791226;
pdb: 4J0W;4JXM;
length: 475
go: ENSG00000114767;
snps: rs1333637065
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
name:
U3 small nucleolar RNA-interacting protein 2 (RRP9 homolog) (U3 small nucleolar ribonucleoprotein-associated 55 kDa protein) (U3 snoRNP-associated 55 kDa protein) (U3-55K)

sequence:

opentargets:
box C/D snoRNP complex [GO:0031428]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; snoRNA binding [GO:0030515]; U3 snoRNA binding [GO:0034511]; rRNA processing [GO:0006364]


uniprotID: A6NCW0
geneSymbol: USP17L3
reactome: R-HSA-5689880;
length: 530
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
name:
Ubiquitin carboxyl-terminal hydrolase 17-like protein 3 (EC 3.4.19.12) (Deubiquitinating enzyme 17-like protein 3) (Ubiquitin thioesterase 17-like protein 3) (Ubiquitin-specific-processing protease 17-like protein 3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; apoptotic process [GO:0006915]; protein deubiquitination [GO:0016579]; regulation of apoptotic process [GO:0042981]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: P0C7H9
geneSymbol: USP17L7
name: Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7
length: 530
go: ENSG00000226430;
snps: rs17815120 rs9694759
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; protein deubiquitination [GO:0016579]; regulation of apoptotic process [GO:0042981]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: P0C7I0
geneSymbol: USP17L8
reactome: R-HSA-5689880;
name: Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8
length: 530
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; protein deubiquitination [GO:0016579]; regulation of apoptotic process [GO:0042981]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: D6RCP7
geneSymbol: USP17L19
reactome: R-HSA-5689880;
name: Ubiquitin carboxyl-terminal hydrolase 17-like protein 19 (EC 3.4.19.12)
length: 530
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; protein deubiquitination [GO:0016579]; regulation of apoptotic process [GO:0042981]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: D6RJB6
geneSymbol: USP17L20
reactome: R-HSA-5689880;
name: Ubiquitin carboxyl-terminal hydrolase 17-like protein 20 (EC 3.4.19.12)
length: 530
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
sequence:


uniprotID: Q9BZF9
geneSymbol: UACA
name: Uveal autoantigen with coiled-coil domains and ankyrin repeats
length: 1416
go: ENSG00000137831;
snps: rs3743315
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; nucleus [GO:0005634]; apoptotic signaling pathway [GO:0097190]; regulation of NIK/NF-kappaB signaling [GO:1901222]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BZF9-1; Sequence=Displayed; Name=2; IsoId=Q9BZF9-2; Sequence=VSP_047199; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15358194}. Cytoplasm {ECO:0000269|PubMed:15358194}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15358194}. Note=Expressed diffusely in cytoplasm.


uniprotID: Q8WVN8
geneSymbol: UBE2Q2
reactome: R-HSA-8866652;R-HSA-983168;
pdb: 1ZUO;
length: 375
go: ENSG00000140367;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16300736}.
name:
Ubiquitin-conjugating enzyme E2 Q2 (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme Q2) (Ubiquitin carrier protein Q2) (Ubiquitin-protein ligase Q2)

sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin-protein transferase activity [GO:0004842]; protein K48-linked ubiquitination [GO:0070936]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8WVN8-1; Sequence=Displayed; Name=2; IsoId=Q8WVN8-2; Sequence=VSP_017298, VSP_017299; Name=3; IsoId=Q8WVN8-3; Sequence=VSP_044817; Note=No experimental confirmation available.; Name=4; IsoId=Q8WVN8-4; Sequence=VSP_055681; Note=No experimental confirmation available.; 


uniprotID: Q3KQV9
geneSymbol: UAP1L1
name: UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 (EC 2.7.7.-)
length: 507
go: ENSG00000197355;
snps: rs7037849 rs1122444
sequence:

opentargets:
UDP-N-acetylglucosamine diphosphorylase activity [GO:0003977]; UDP-N-acetylglucosamine biosynthetic process [GO:0006048]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3KQV9-1; Sequence=Displayed; Name=2; IsoId=Q3KQV9-2; Sequence=VSP_032280; Note=No experimental confirmation available.; 


uniprotID: P51965
geneSymbol: UBE2E1
pdb: 1XR9;3BZH;4JJQ;5LBN;
length: 193
go: ENSG00000170142;
snps: rs36060625
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18845142}.
reactome:
R-HSA-1169408;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-8866652;R-HSA-8866654;R-HSA-983168;

name:
Ubiquitin-conjugating enzyme E2 E1 (EC 2.3.2.23) ((E3-independent) E2 ubiquitin-conjugating enzyme E1) (EC 2.3.2.24) (E2 ubiquitin-conjugating enzyme E1) (UbcH6) (Ubiquitin carrier protein E1) (Ubiquitin-protein ligase E1)

sequence:
MSDDDSRASTSSSSSSSSNQQTEKETNTPKKKESKVSMSKNSKLLSTSAKRIQKELADITLDPPPNCSAGPKGDNIYEWRSTILGPPGSVYEGGVFFLDITFTPEYPFKPPKVTFRTRIYHCNINSQGVICLDILKDNWSPALTISKVLLSICSLLTDCNPADPLVGSIATQYMTNRAEHDRMARQWTKRYAT

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; ATP binding [GO:0005524]; ISG15 transferase activity [GO:0042296]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin-protein transferase activity [GO:0004842]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; histone H2B ubiquitination [GO:0033523]; histone monoubiquitination [GO:0010390]; ISG15-protein conjugation [GO:0032020]; protein K48-linked ubiquitination [GO:0070936]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P51965-1; Sequence=Displayed; Name=2; IsoId=P51965-2; Sequence=VSP_045884; Note=No experimental confirmation available.; Name=3; IsoId=P51965-3; Sequence=VSP_047200; Note=No experimental confirmation available.; 


uniprotID: Q15819
geneSymbol: UBE2V2
reactome: R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-5696395;R-HSA-69473;R-HSA-8866654;R-HSA-983168;
pdb: 1J74;1J7D;1ZGU;3VON;4NR3;4NRG;4NRI;4ONL;4ONM;4ONN;4ORH;5AIT;
length: 145
go: ENSG00000169139;
snps: rs11557776 rs11557786
name:
Ubiquitin-conjugating enzyme E2 variant 2 (DDVit 1) (Enterocyte differentiation-associated factor 1) (EDAF-1) (Enterocyte differentiation-promoting factor 1) (EDPF-1) (MMS2 homolog) (Vitamin D3-inducible protein)

sequence:
MAVSTGVKVPRNFRLLEELEEGQKGVGDGTVSWGLEDDEDMTLTRWTGMIIGPPRTNYENRIYSLKVECGPKYPEAPPSVRFVTKINMNGINNSSGMVDARSIPVLAKWQNSYSIKVVLQELRRLMMSKENMKLPQPPEGQTYNN

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; UBC13-MMS2 complex [GO:0031372]; ubiquitin conjugating enzyme activity [GO:0061631]; cell proliferation [GO:0008283]; DNA double-strand break processing [GO:0000729]; double-strand break repair via nonhomologous end joining [GO:0006303]; error-free postreplication DNA repair [GO:0042275]; negative regulation of neuron apoptotic process [GO:0043524]; positive regulation of DNA repair [GO:0045739]; positive regulation of neuron projection development [GO:0010976]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of synapse assembly [GO:0051965]; postreplication repair [GO:0006301]; protein K63-linked ubiquitination [GO:0070534]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of DNA repair [GO:0006282]


uniprotID: P62253
geneSymbol: UBE2G1
reactome: R-HSA-8866652;R-HSA-983168;
pdb: 2AWF;
length: 170
go: ENSG00000132388;
name:
Ubiquitin-conjugating enzyme E2 G1 (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme G1) (E217K) (UBC7) (Ubiquitin carrier protein G1) (Ubiquitin-protein ligase G1) [Cleaved into: Ubiquitin-conjugating enzyme E2 G1, N-terminally processed]

sequence:
MTELQSALLLRRQLAELNKNPVEGFSAGLIDDNDLYRWEVLIIGPPDTLYEGGVFKAHLTFPKDYPLRPPKMKFITEIWHPNVDKNGDVCISILHEPGEDKYGYEKPEERWLPIHTVETIMISVISMLADPNGDSPANVDAAKEWREDRNGEFKRKVARCVRKSQETAFE

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; ATP binding [GO:0005524]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; cellular protein catabolic process [GO:0044257]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; 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]


uniprotID: Q9NZ09
geneSymbol: UBAP1
reactome: R-HSA-162588;R-HSA-174490;R-HSA-917729;
pdb: 1WGN;4AE4;5LM1;
name: Ubiquitin-associated protein 1 (UBAP-1) (Nasopharyngeal carcinoma-associated gene 20 protein)
length: 502
go: ENSG00000165006;
snps: rs16935457
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; ESCRT I complex [GO:0000813]; Golgi apparatus [GO:0005794]; plasma membrane [GO:0005886]; ubiquitin binding [GO:0043130]; endosomal transport [GO:0016197]; protein transport [GO:0015031]; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway [GO:0043162]; viral life cycle [GO:0019058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NZ09-1; Sequence=Displayed; Name=2; IsoId=Q9NZ09-2; Sequence=VSP_013650; Note=Derived from EST data. No experimental confirmation available.; Name=3; IsoId=Q9NZ09-3; Sequence=VSP_046866; Note=No experimental confirmation available.; Name=4; IsoId=Q9NZ09-4; Sequence=VSP_046867; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:21757351}. Endosome {ECO:0000269|PubMed:21757351}. Note=Predominantly cytosolic. Recruited to endosomes as part of the ESCRT-I complex.


uniprotID: P49459
geneSymbol: UBE2A
reactome: R-HSA-8866652;R-HSA-8866654;R-HSA-983168;
length: 152
go: ENSG00000077721;
snps: rs387906728
name:
Ubiquitin-conjugating enzyme E2 A (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme A) (RAD6 homolog A) (HR6A) (hHR6A) (Ubiquitin carrier protein A) (Ubiquitin-protein ligase A)

sequence:
MSTPARRRLMRDFKRLQEDPPAGVSGAPSENNIMVWNAVIFGPEGTPFEDGTFKLTIEFTEEYPNKPPTVRFVSKMFHPNVYADGSICLDILQNRWSPTYDVSSILTSIQSLLDEPNPNSPANSQAAQLYQENKREYEKRVSAIVEQSWRDC

opentargets:
chromatin [GO:0000785]; cytosol [GO:0005829]; HULC complex [GO:0033503]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; XY body [GO:0001741]; ATP binding [GO:0005524]; ubiquitin binding [GO:0043130]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; blastocyst hatching [GO:0001835]; DNA repair [GO:0006281]; histone H2A ubiquitination [GO:0033522]; maternal process involved in female pregnancy [GO:0060135]; positive regulation of cell proliferation [GO:0008284]; postreplication repair [GO:0006301]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein autoubiquitination [GO:0051865]; protein K11-linked ubiquitination [GO:0070979]; protein K48-linked ubiquitination [GO:0070936]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; response to UV [GO:0009411]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P49459-1; Sequence=Displayed; Name=2; IsoId=P49459-2; Sequence=VSP_043852; Name=3; IsoId=P49459-3; Sequence=VSP_043851; Note=No experimental confirmation available.; 


uniprotID: Q8WVY7
geneSymbol: UBLCP1
pdb: 2KX3;2LGD;2M17;
length: 318
go: ENSG00000164332;
name:
Ubiquitin-like domain-containing CTD phosphatase 1 (EC 3.1.3.16) (Nuclear proteasome inhibitor UBLCP1)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; protein serine/threonine phosphatase activity [GO:0004722]; protein dephosphorylation [GO:0006470]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15883030, ECO:0000269|PubMed:21949367}. Note=Colocalizes with nuclear proteasomes.


uniprotID: Q5VVX9
geneSymbol: UBE2U
reactome: R-HSA-983168;
pdb: 1YRV;
length: 321
go: ENSG00000177414;
snps: rs7532933
name:
Ubiquitin-conjugating enzyme E2 U (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme U) (Ubiquitin carrier protein U) (Ubiquitin-protein ligase U)

sequence:

opentargets:
HULC complex [GO:0033503]; nuclear chromatin [GO:0000790]; ATP binding [GO:0005524]; ubiquitin conjugating enzyme activity [GO:0061631]; DNA repair [GO:0006281]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VVX9-1; Sequence=Displayed; Name=2; IsoId=Q5VVX9-2; Sequence=VSP_016003; 


uniprotID: Q96B02
geneSymbol: UBE2W
reactome: R-HSA-8866652;R-HSA-983168;
pdb: 2A7L;2MT6;
length: 151
go: ENSG00000104343;
name:
Ubiquitin-conjugating enzyme E2 W (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme W) (N-terminal E2 ubiquitin-conjugating enzyme) (EC 2.3.2.25) (N-terminus-conjugating E2) (Ubiquitin carrier protein W) (Ubiquitin-conjugating enzyme 16) (UBC-16) (Ubiquitin-protein ligase W)

sequence:
MASMQKRLQKELLALQNDPPPGMTLNEKSVQNSITQWIVDMEGAPGTLYEGEKFQLLFKFSSRYPFDSPQVMFTGENIPVHPHVYSNGHICLSILTEDWSPALSVQSVCLSIISMLSSCKEKRRPPDNSFYVRTCNKNPKKTKWWYHDDTC

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; cellular response to misfolded protein [GO:0071218]; DNA repair [GO:0006281]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein K11-linked ubiquitination [GO:0070979]; protein monoubiquitination [GO:0006513]; protein quality control for misfolded or incompletely synthesized proteins [GO:0006515]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96B02-1; Sequence=Displayed; Name=2; IsoId=Q96B02-2; Sequence=VSP_017943; Name=3; IsoId=Q96B02-3; Sequence=VSP_042974; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16368532, ECO:0000269|PubMed:21229326}. Note=In the nucleus, colocalizes with FANCL. {ECO:0000269|PubMed:21229326}.


uniprotID: P0CB47
geneSymbol: UBTFL1
name: Upstream-binding factor 1-like protein 1
length: 393
go: ENSG00000255009;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; blastocyst growth [GO:0001832]; embryo implantation [GO:0007566]; regulation of gene expression [GO:0010468]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q3USZ2}. Nucleus {ECO:0000250|UniProtKB:Q3USZ2, ECO:0000255|PROSITE-ProRule:PRU00267}. Note=Mainly cytoplasmic from the 4-cell stage to the morula stage. Becomes nuclear at the blastocyst stage. {ECO:0000250|UniProtKB:Q3USZ2}.


uniprotID: Q9H832
geneSymbol: UBE2Z
reactome: R-HSA-8866652;R-HSA-983168;
pdb: 5A4P;
length: 354
go: ENSG00000159202;
name:
Ubiquitin-conjugating enzyme E2 Z (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme Z) (Uba6-specific E2 conjugating enzyme 1) (Use1) (Ubiquitin carrier protein Z) (Ubiquitin-protein ligase Z)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; ubiquitin conjugating enzyme activity [GO:0061631]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; positive regulation of apoptotic process [GO:0043065]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H832-1; Sequence=Displayed; Name=2; IsoId=Q9H832-2; Sequence=VSP_023747; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17160626}. Nucleus {ECO:0000269|PubMed:17160626}.


uniprotID: P61086
geneSymbol: UBE2K
reactome: R-HSA-8866652;R-HSA-936440;R-HSA-983168;
pdb: 1YLA;2O25;3E46;3F92;3K9O;3K9P;5DFL;
length: 200
go: ENSG00000078140;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P61085}.
name:
Ubiquitin-conjugating enzyme E2 K (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme K) (Huntingtin-interacting protein 2) (HIP-2) (Ubiquitin carrier protein) (Ubiquitin-conjugating enzyme E2-25 kDa) (Ubiquitin-conjugating enzyme E2(25K)) (Ubiquitin-conjugating enzyme E2-25K) (Ubiquitin-protein ligase)

sequence:

opentargets:
cytosol [GO:0005829]; filopodium tip [GO:0032433]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; ubiquitin-ubiquitin ligase activity [GO:0034450]; cellular response to interferon-beta [GO:0035458]; free ubiquitin chain polymerization [GO:0010994]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of type I interferon-mediated signaling pathway [GO:0060340]; protein K48-linked ubiquitination [GO:0070936]; protein ubiquitination [GO:0016567]; regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032434]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P61086-1; Sequence=Displayed; Name=2; IsoId=P61086-2; Sequence=VSP_011798; Note=May be inactive.; Name=3; IsoId=P61086-3; Sequence=VSP_046211; Note=No experimental confirmation available.; 


uniprotID: Q9H0E7
geneSymbol: USP44
reactome: R-HSA-5689880;
length: 712
go: ENSG00000136014;
snps: rs3812813 rs7305024 rs7135642
name:
Ubiquitin carboxyl-terminal hydrolase 44 (EC 3.4.19.12) (Deubiquitinating enzyme 44) (Ubiquitin thioesterase 44) (Ubiquitin-specific-processing protease 44)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; zinc ion binding [GO:0008270]; cell cycle [GO:0007049]; cell division [GO:0051301]; negative regulation of ubiquitin protein ligase activity [GO:1904667]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; regulation of mitotic cell cycle spindle assembly checkpoint [GO:0090266]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20402667}. Note=Peaks in interphase, with relatively low levels maintained throughout mitosis. {ECO:0000250}.


uniprotID: A6NNY8
geneSymbol: USP27X
length: 438
go: ENSG00000273820;
snps: rs886038211
name:
Ubiquitin carboxyl-terminal hydrolase 27 (EC 3.4.19.12) (Deubiquitinating enzyme 27) (Ubiquitin carboxyl-terminal hydrolase 22-like) (Ubiquitin thioesterase 27) (Ubiquitin-specific-processing protease 27) (X-linked ubiquitin carboxyl-terminal hydrolase 27)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; Lys48-specific deubiquitinase activity [GO:1990380]; Lys63-specific deubiquitinase activity [GO:0061578]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; positive regulation of apoptotic process [GO:0043065]; protein deubiquitination [GO:0016579]; protein K48-linked deubiquitination [GO:0071108]; protein K63-linked deubiquitination [GO:0070536]; protein stabilization [GO:0050821]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q8CEG8}. Nucleus {ECO:0000250|UniProtKB:Q8CEG8}.


uniprotID: Q70EK8
geneSymbol: USP53
name: Inactive ubiquitin carboxyl-terminal hydrolase 53 (Inactive ubiquitin-specific peptidase 53)
length: 1073
go: ENSG00000145390;
snps: rs3749591
location: SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250|UniProtKB:P15975}.
sequence:

opentargets:
bicellular tight junction [GO:0005923]; action potential [GO:0001508]; neuron apoptotic process [GO:0051402]; protein deubiquitination [GO:0016579]; response to auditory stimulus [GO:0010996]; sensory perception of sound [GO:0007605]


uniprotID: Q9HAC8
geneSymbol: UBTD1
name: Ubiquitin domain-containing protein 1
length: 227
go: ENSG00000165886;
sequence:


uniprotID: O00124
geneSymbol: UBXN8
length: 270
go: ENSG00000104691;
snps: rs3174043 rs2911690
name:
UBX domain-containing protein 8 (Reproduction 8 protein) (Rep-8 protein) (UBX domain-containing protein 6)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of endoplasmic reticulum membrane [GO:0030176]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; single fertilization [GO:0007338]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=O00124-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O00124-2; Sequence=VSP_004376; Name=3; IsoId=O00124-3; Sequence=VSP_015535; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21949850}; Multi-pass membrane protein {ECO:0000269|PubMed:21949850}.


uniprotID: Q9Y5K5
geneSymbol: UCHL5
reactome: R-HSA-2173788;R-HSA-5689603;
pdb: 3A7S;3IHR;3RII;3RIS;3TB3;4UEL;4UEM;4UF5;4UF6;4WLP;
length: 329
go: ENSG00000116750;
name:
Ubiquitin carboxyl-terminal hydrolase isozyme L5 (UCH-L5) (EC 3.4.19.12) (Ubiquitin C-terminal hydrolase UCH37) (Ubiquitin thioesterase L5)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic proteasome complex [GO:0031597]; Ino80 complex [GO:0031011]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; endopeptidase inhibitor activity [GO:0004866]; proteasome binding [GO:0070628]; RNA binding [GO:0003723]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; forebrain morphogenesis [GO:0048853]; lateral ventricle development [GO:0021670]; midbrain development [GO:0030901]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; protein deubiquitination [GO:0016579]; regulation of proteasomal protein catabolic process [GO:0061136]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9Y5K5-1; Sequence=Displayed; Name=2; IsoId=Q9Y5K5-2; Sequence=VSP_005253, VSP_005254; Name=3; IsoId=Q9Y5K5-3; Sequence=VSP_005253; Name=4; IsoId=Q9Y5K5-4; Sequence=VSP_005253, VSP_017062; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18922472}. Nucleus {ECO:0000269|PubMed:18922472}. Note=Associates with the proteasome 19S subunit in the cytoplasm. Associates with the INO80 complex in the nucleus.


uniprotID: P54855
geneSymbol: UGT2B15
reactome: R-HSA-156588;
length: 530
go: ENSG00000196620;
drug: DB00316;DB06695;DB00973;DB00186;DB00295;DB00842;DB00197;DB00313;
snps: rs1902023 rs4148269
name:
UDP-glucuronosyltransferase 2B15 (UDPGT 2B15) (EC 2.4.1.17) (HLUG4) (UDP-glucuronosyltransferase 2B8) (UDPGT 2B8) (UDPGTh-3)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; glucuronosyltransferase activity [GO:0015020]; UDP-glycosyltransferase activity [GO:0008194]; cellular glucuronidation [GO:0052695]; steroid metabolic process [GO:0008202]; xenobiotic metabolic process [GO:0006805]

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: P30530
geneSymbol: AXL
reactome: R-HSA-4420097;
pdb: 2C5D;4RA0;5U6B;5VXZ;
name: Tyrosine-protein kinase receptor UFO (EC 2.7.10.1) (AXL oncogene)
length: 894
go: ENSG00000167601;
snps: rs35202236 rs7249222 rs751738506 rs747576071
sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; host cell surface [GO:0044228]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; myosin heavy chain binding [GO:0032036]; phosphatidylinositol 3-kinase binding [GO:0043548]; phosphatidylserine binding [GO:0001786]; protein heterodimerization activity [GO:0046982]; protein tyrosine kinase activity [GO:0004713]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; virus receptor activity [GO:0001618]; Wnt-protein binding [GO:0017147]; animal organ regeneration [GO:0031100]; apoptotic cell clearance [GO:0043277]; blood vessel remodeling [GO:0001974]; cell differentiation [GO:0030154]; cell maturation [GO:0048469]; cellular response to extracellular stimulus [GO:0031668]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to interferon-alpha [GO:0035457]; cellular response to lipopolysaccharide [GO:0071222]; dendritic cell differentiation [GO:0097028]; erythrocyte homeostasis [GO:0034101]; forebrain cell migration [GO:0021885]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; natural killer cell differentiation [GO:0001779]; negative regulation of apoptotic process [GO:0043066]; negative regulation of dendritic cell apoptotic process [GO:2000669]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of lymphocyte activation [GO:0051250]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of signal transduction [GO:0009968]; negative regulation of tumor necrosis factor production [GO:0032720]; neuron migration [GO:0001764]; neutrophil clearance [GO:0097350]; ovulation cycle [GO:0042698]; phagocytosis [GO:0006909]; platelet activation [GO:0030168]; positive regulation of cytokine-mediated signaling pathway [GO:0001961]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of natural killer cell differentiation [GO:0032825]; positive regulation of pinocytosis [GO:0048549]; positive regulation of protein kinase B signaling [GO:0051897]; protein kinase B signaling [GO:0043491]; secretion by cell [GO:0032940]; signal transduction [GO:0007165]; spermatogenesis [GO:0007283]; substrate adhesion-dependent cell spreading [GO:0034446]; vagina development [GO:0060068]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; viral entry into host cell [GO:0046718]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P30530-1; Sequence=Displayed; Name=Short; IsoId=P30530-2; Sequence=VSP_005017; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:7896447}; Single-pass type I membrane protein {ECO:0000269|PubMed:7896447}.


uniprotID: Q6H3X3
geneSymbol: RAET1G
reactome: R-HSA-163125;
name: UL-16 binding protein 5 (Retinoic acid early transcript 1G protein)
length: 334
go: ENSG00000203722;
snps: rs9397449
sequence:

opentargets:
anchored component of membrane [GO:0031225]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; natural killer cell lectin-like receptor binding [GO:0046703]; immune response [GO:0006955]; natural killer cell activation [GO:0030101]; natural killer cell mediated cytotoxicity [GO:0042267]; positive regulation of natural killer cell cytokine production [GO:0002729]; susceptibility to natural killer cell mediated cytotoxicity [GO:0042271]; T cell mediated cytotoxicity [GO:0001913]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:15240696}; Synonyms=RAET1G1 {ECO:0000303|PubMed:15240696}; IsoId=Q6H3X3-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15240696}; Synonyms=RAET1G2 {ECO:0000303|PubMed:15240696}; IsoId=Q6H3X3-2; Sequence=VSP_051621, VSP_051622; Name=3; Synonyms=RAET1G3 {ECO:0000303|PubMed:18544572}; IsoId=Q6H3X3-3; Sequence=VSP_059264, VSP_051622; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:15240696, ECO:0000269|PubMed:19223974, ECO:0000269|PubMed:20304922}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:20304922}. Endoplasmic reticulum {ECO:0000269|PubMed:19223974, ECO:0000269|PubMed:20304922}. Note=Mainly found intracellularly. {ECO:0000269|PubMed:15240696, ECO:0000269|PubMed:19223974, ECO:0000269|PubMed:20304922}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:19223974}.


uniprotID: Q8IWX7
geneSymbol: UNC45B
name: Protein unc-45 homolog B (Unc-45B) (SMUNC45)
length: 931
go: ENSG00000141161;
snps: rs16970659 rs35749208 rs41389545 rs370424081 rs11654824
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; Hsp90 protein binding [GO:0051879]; cell differentiation [GO:0030154]; chaperone-mediated protein folding [GO:0061077]; lens development in camera-type eye [GO:0002088]; muscle organ development [GO:0007517]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IWX7-1; Sequence=Displayed; Name=2; IsoId=Q8IWX7-2; Sequence=VSP_020586; Name=3; IsoId=Q8IWX7-3; Sequence=VSP_020587; Note=No experimental confirmation available.; 


uniprotID: O95185
geneSymbol: UNC5C
reactome: R-HSA-418886;
name: Netrin receptor UNC5C (Protein unc-5 homolog 3) (Protein unc-5 homolog C)
length: 931
go: ENSG00000182168;
snps: rs2306715 rs2289043 rs34585936
sequence:

opentargets:
cell junction [GO:0030054]; integral component of membrane [GO:0016021]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; synapse [GO:0045202]; netrin receptor activity [GO:0005042]; anterior/posterior axon guidance [GO:0033564]; apoptotic process [GO:0006915]; axon guidance [GO:0007411]; brain development [GO:0007420]; positive regulation of apoptotic process [GO:0043065]; regulation of cell migration [GO:0030334]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95185-1; Sequence=Displayed; Name=2; IsoId=O95185-2; Sequence=VSP_011700, VSP_011701; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O08747}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:O08747}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q761X5}.


uniprotID: Q9UPW8
geneSymbol: UNC13A
name: Protein unc-13 homolog A (Munc13-1)
length: 1703
go: ENSG00000130477;
snps: rs34752754
sequence:

opentargets:
calyx of Held [GO:0044305]; cell junction [GO:0030054]; glutamatergic synapse [GO:0098978]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; presynaptic active zone [GO:0048786]; presynaptic active zone cytoplasmic component [GO:0098831]; presynaptic membrane [GO:0042734]; synaptic vesicle membrane [GO:0030672]; terminal bouton [GO:0043195]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; diacylglycerol binding [GO:0019992]; phospholipid binding [GO:0005543]; syntaxin-1 binding [GO:0017075]; amyloid-beta metabolic process [GO:0050435]; dense core granule priming [GO:0061789]; innervation [GO:0060384]; intracellular signal transduction [GO:0035556]; neuromuscular junction development [GO:0007528]; neurotransmitter secretion [GO:0007269]; positive regulation of dendrite extension [GO:1903861]; positive regulation of glutamate receptor signaling pathway [GO:1900451]; positive regulation of neurotransmitter secretion [GO:0001956]; positive regulation of synaptic plasticity [GO:0031915]; presynaptic dense core vesicle exocytosis [GO:0099525]; regulation of amyloid precursor protein catabolic process [GO:1902991]; regulation of short-term neuronal synaptic plasticity [GO:0048172]; regulation of synaptic transmission, glutamatergic [GO:0051966]; synaptic transmission, glutamatergic [GO:0035249]; synaptic vesicle docking [GO:0016081]; synaptic vesicle maturation [GO:0016188]; synaptic vesicle priming [GO:0016082]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Localized to the active zone of presynaptic density. Translocated to the plasma membrane as response to phorbol ester binding (By similarity). {ECO:0000250}.


uniprotID: Q8N2C7
geneSymbol: UNC80
reactome: R-HSA-2672351;
name: Protein unc-80 homolog
length: 3258
go: ENSG00000144406;
snps: rs35822936 rs864321623 rs4673492 rs869025316
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ion transmembrane transport [GO:0034220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q8N2C7-1; Sequence=Displayed; Name=2; IsoId=Q8N2C7-2; Sequence=VSP_031528; Note=No experimental confirmation available.; Name=3; IsoId=Q8N2C7-3; Sequence=VSP_036742, VSP_036743; Note=No experimental confirmation available.; Name=4; IsoId=Q8N2C7-4; Sequence=VSP_036745, VSP_036746; Note=No experimental confirmation available.; Name=5; IsoId=Q8N2C7-5; Sequence=VSP_036741, VSP_036744; Note=No experimental confirmation available.; Name=6; IsoId=Q8N2C7-6; Sequence=VSP_036741, VSP_036745, VSP_036746; Note=No experimental confirmation available.; Name=7; IsoId=Q8N2C7-7; Sequence=VSP_054289, VSP_036744; 


uniprotID: Q96BW1
geneSymbol: UPRT
name: Uracil phosphoribosyltransferase homolog
length: 309
go: ENSG00000094841;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; GTP binding [GO:0005525]; uridine kinase activity [GO:0004849]; female pregnancy [GO:0007565]; lactation [GO:0007595]; response to insulin [GO:0032868]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96BW1-1; Sequence=Displayed; Name=2; IsoId=Q96BW1-2; Sequence=VSP_021206, VSP_021207; Note=No experimental confirmation available.; Name=3; IsoId=Q96BW1-3; Sequence=VSP_021205, VSP_021208, VSP_021209; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17384901}. Nucleus {ECO:0000269|PubMed:17384901}.


uniprotID: Q9NVA1
geneSymbol: UQCC1
length: 299
go: ENSG00000101019;
snps: rs4911494 rs6088810
name:
Ubiquinol-cytochrome-c reductase complex assembly factor 1 (Basic FGF-repressed Zic-binding protein) (bFGF-repressed Zic-binding protein) (bFZb) (Ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex III assembly [GO:0034551]; positive regulation of mitochondrial translation [GO:0070131]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9NVA1-1; Sequence=Displayed; Name=2; IsoId=Q9NVA1-2; Sequence=VSP_000857; Name=3; IsoId=Q9NVA1-3; Sequence=VSP_000855, VSP_000856; Name=4; IsoId=Q9NVA1-4; Sequence=VSP_016027; Note=May be due to a competing donor splice site.; Name=5; IsoId=Q9NVA1-5; Sequence=VSP_043406; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:24385928}. Cytoplasmic vesicle {ECO:0000250}. Note=Cytoplasmic vesicular structures. {ECO:0000250}.


uniprotID: Q9BY64
geneSymbol: UGT2B28
reactome: R-HSA-156588;
name: UDP-glucuronosyltransferase 2B28 (UDPGT 2B28) (EC 2.4.1.17)
length: 529
go: ENSG00000135226;
snps: rs4235127 rs6843900 rs6828191
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; nuclear outer membrane [GO:0005640]; glucuronosyltransferase activity [GO:0015020]; UDP-glycosyltransferase activity [GO:0008194]; steroid metabolic process [GO:0008202]; xenobiotic glucuronidation [GO:0052697]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=I; IsoId=Q9BY64-1; Sequence=Displayed; Name=2; Synonyms=II; IsoId=Q9BY64-2; Sequence=VSP_006710, VSP_006711; 

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000269|PubMed:11300766}; Single-pass membrane protein {ECO:0000269|PubMed:11300766}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:11300766}; Single-pass membrane protein {ECO:0000269|PubMed:11300766}.


uniprotID: P61960
geneSymbol: UFM1
pdb: 1WXS;5HKH;5IA7;5IA8;5IAA;5L95;
name: Ubiquitin-fold modifier 1
sequence: MSKVSFKITLTSDPRLPYKVLSVPESTPFTAVLKFAAEEFKVPAATSAIITNDGIGINPAQTAGNVFLKHGSELRIIPRDRVGSC
length: 85
go: ENSG00000120686;
opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; negative regulation of apoptotic process [GO:0043066]; protein K69-linked ufmylation [GO:1990592]; protein ufmylation [GO:0071569]; regulation of intracellular estrogen receptor signaling pathway [GO:0033146]; response to endoplasmic reticulum stress [GO:0034976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P61960-1; Sequence=Displayed; Name=2; IsoId=P61960-2; Sequence=VSP_041186; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15071506}. Cytoplasm {ECO:0000269|PubMed:15071506}.


uniprotID: Q16851
geneSymbol: UGP2
reactome: R-HSA-173599;R-HSA-3322077;
pdb: 3R2W;3R3I;4R7P;
length: 508
go: ENSG00000169764;
snps: rs1130982
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8354390}.
name:
UTP--glucose-1-phosphate uridylyltransferase (EC 2.7.7.9) (UDP-glucose pyrophosphorylase) (UDPGP) (UGPase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; glucose binding [GO:0005536]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; pyrimidine ribonucleotide binding [GO:0032557]; UTP:glucose-1-phosphate uridylyltransferase activity [GO:0003983]; glucose 1-phosphate metabolic process [GO:0019255]; glycogen biosynthetic process [GO:0005978]; glycogen metabolic process [GO:0005977]; UDP-glucose metabolic process [GO:0006011]; UDP-glucuronate biosynthetic process [GO:0006065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16851-1; Sequence=Displayed; Name=2; IsoId=Q16851-2; Sequence=VSP_012834; 


uniprotID: Q8TAS1
geneSymbol: UHMK1
length: 419
go: ENSG00000152332;
snps: rs34466082 rs56201055
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23419774}.
name:
Serine/threonine-protein kinase Kist (EC 2.7.11.1) (Kinase interacting with stathmin) (PAM COOH-terminal interactor protein 2) (P-CIP2) (U2AF homology motif kinase 1)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; dendrite cytoplasm [GO:0032839]; Golgi apparatus [GO:0005794]; neuronal ribonucleoprotein granule [GO:0071598]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; ribonucleoprotein complex binding [GO:0043021]; RNA binding [GO:0003723]; transferase activity [GO:0016740]; cell cycle arrest [GO:0007050]; neuron projection development [GO:0031175]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of translational initiation [GO:0045948]; protein autophosphorylation [GO:0046777]; regulation of protein export from nucleus [GO:0046825]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TAS1-1; Sequence=Displayed; Name=2; IsoId=Q8TAS1-2; Sequence=VSP_004908, VSP_004909; Note=No experimental confirmation available.; Name=3; IsoId=Q8TAS1-3; Sequence=VSP_046145; Note=No experimental confirmation available.; 


uniprotID: Q96QD9
geneSymbol: FYTTD1
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72187;
name: UAP56-interacting factor (Forty-two-three domain-containing protein 1) (Protein 40-2-3)
length: 318
go: ENSG00000122068;
snps: rs3205525
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA export from nucleus [GO:0006406]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96QD9-1; Sequence=Displayed; Name=2; IsoId=Q96QD9-2; Sequence=VSP_038659; Note=No experimental confirmation available.; Name=3; IsoId=Q96QD9-3; Sequence=VSP_038658; Note=No experimental confirmation available.; Name=4; IsoId=Q96QD9-4; Sequence=VSP_038660, VSP_038661; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:19836239}. Nucleus speckle {ECO:0000269|PubMed:19836239}.


uniprotID: Q13564
geneSymbol: NAE1
reactome: R-HSA-8951664;
pdb: 1R4M;1R4N;1TT5;1YOV;2NVU;3DBH;3DBL;3DBR;3GZN;
length: 534
go: ENSG00000159593;
drug: DB00171;
snps: rs363212
name:
NEDD8-activating enzyme E1 regulatory subunit (Amyloid beta precursor protein-binding protein 1, 59 kDa) (APP-BP1) (Amyloid protein-binding protein 1) (Proto-oncogene protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; NEDD8 activating enzyme activity [GO:0019781]; protein heterodimerization activity [GO:0046982]; ubiquitin protein ligase binding [GO:0031625]; mitotic DNA replication checkpoint [GO:0033314]; neuron apoptotic process [GO:0051402]; post-translational protein modification [GO:0043687]; protein neddylation [GO:0045116]; regulation of apoptotic process [GO:0042981]; regulation of neuron apoptotic process [GO:0043523]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13564-1; Sequence=Displayed; Name=2; IsoId=Q13564-2; Sequence=VSP_042895; Note=No experimental confirmation available.; Name=3; IsoId=Q13564-3; Sequence=VSP_054258; Note=No experimental confirmation available.; Name=4; IsoId=Q13564-4; Sequence=VSP_054259; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14557245}. Note=Colocalizes with APP in lipid rafts.


uniprotID: O14795
geneSymbol: UNC13B
reactome: R-HSA-181429;R-HSA-181430;R-HSA-210500;R-HSA-212676;R-HSA-264642;
name: Protein unc-13 homolog B (Munc13-2) (munc13)
length: 1591
go: ENSG00000198722;
snps: rs35199210 rs12339582
sequence:

opentargets:
calyx of Held [GO:0044305]; cell junction [GO:0030054]; cytosol [GO:0005829]; early phagosome [GO:0032009]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; membrane [GO:0016020]; neuromuscular junction [GO:0031594]; plasma membrane [GO:0005886]; presynaptic active zone [GO:0048786]; presynaptic active zone cytoplasmic component [GO:0098831]; presynaptic membrane [GO:0042734]; ribbon synapse [GO:0097470]; synaptic vesicle membrane [GO:0030672]; terminal bouton [GO:0043195]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; diacylglycerol binding [GO:0019992]; GTP-dependent protein binding [GO:0030742]; phospholipid binding [GO:0005543]; Rab GTPase binding [GO:0017137]; syntaxin-1 binding [GO:0017075]; cellular response to glucose stimulus [GO:0071333]; chemical synaptic transmission [GO:0007268]; dense core granule priming [GO:0061789]; innervation [GO:0060384]; intracellular signal transduction [GO:0035556]; negative regulation of synaptic plasticity [GO:0031914]; neuromuscular junction development [GO:0007528]; phagosome maturation [GO:0090382]; positive regulation of apoptotic process [GO:0043065]; positive regulation of defense response to bacterium [GO:1900426]; positive regulation of inhibitory postsynaptic potential [GO:0097151]; positive regulation of protein secretion [GO:0050714]; positive regulation of synaptic vesicle priming [GO:0010808]; presynaptic dense core vesicle exocytosis [GO:0099525]; regulation of short-term neuronal synaptic plasticity [GO:0048172]; synaptic transmission, glutamatergic [GO:0035249]; synaptic vesicle docking [GO:0016081]; synaptic vesicle maturation [GO:0016188]; synaptic vesicle priming [GO:0016082]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14795-1; Sequence=Displayed; Name=2; IsoId=O14795-2; Sequence=VSP_057319; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Localized to synapses. Translocated to the plasma membrane in response to phorbol ester binding (By similarity). {ECO:0000250}.


uniprotID: Q8NB66
geneSymbol: UNC13C
name: Protein unc-13 homolog C (Munc13-3)
length: 2214
go: ENSG00000137766;
snps: rs149448818 rs12437941 rs17731958 rs146433220
sequence:

opentargets:
calyx of Held [GO:0044305]; cell junction [GO:0030054]; neuromuscular junction [GO:0031594]; parallel fiber to Purkinje cell synapse [GO:0098688]; plasma membrane [GO:0005886]; presynaptic active zone [GO:0048786]; presynaptic active zone cytoplasmic component [GO:0098831]; presynaptic membrane [GO:0042734]; synaptic vesicle membrane [GO:0030672]; terminal bouton [GO:0043195]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; diacylglycerol binding [GO:0019992]; phospholipid binding [GO:0005543]; syntaxin-1 binding [GO:0017075]; chemical synaptic transmission [GO:0007268]; dense core granule priming [GO:0061789]; intracellular signal transduction [GO:0035556]; negative regulation of synaptic plasticity [GO:0031914]; neuromuscular junction development [GO:0007528]; presynaptic dense core vesicle exocytosis [GO:0099525]; synaptic transmission, glutamatergic [GO:0035249]; synaptic vesicle docking [GO:0016081]; synaptic vesicle maturation [GO:0016188]; synaptic vesicle priming [GO:0016082]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Localized to presynaptic structures. {ECO:0000250}.


uniprotID: Q9C0B0
geneSymbol: UNK
name: RING finger protein unkempt homolog (Zinc finger CCCH domain-containing protein 5)
length: 810
go: ENSG00000132478;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25737280}.
sequence:

opentargets:
cytoplasm [GO:0005737]; polysome [GO:0005844]; metal ion binding [GO:0046872]; mRNA CDS binding [GO:1990715]; polysome binding [GO:1905538]; RNA binding [GO:0003723]; cell morphogenesis involved in neuron differentiation [GO:0048667]; negative regulation of cytoplasmic translation [GO:2000766]; neuron migration [GO:0001764]


uniprotID: O00526
geneSymbol: UPK2
name: Uroplakin-2 (UP2) (Uroplakin II) (UPII)
length: 184
go: ENSG00000110375;
snps: rs3886020 rs45530531
sequence:
MAPLLPIRTLPLILILLALLSPGAADFNISSLSGLLSPALTESLLVALPPCHLTGGNATLMVRRANDSKVVTSSFVVPPCRGRRELVSVVDSGAGFTVTRLSAYQVTNLVPGTKFYISYLVKKGTATESSREIPMSTLPRRNMESIGLGMARTGGMVVITVLLSVAMFLLVLGFIIALALGSRK

opentargets:
apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; epithelial cell differentiation [GO:0030855]; multicellular organism development [GO:0007275]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Heterodimer formation with UPK1A is a prerequisite to exit out of the endoplasmic reticulum (ER). {ECO:0000250}.


uniprotID: O75631
geneSymbol: UPK3A
name: Uroplakin-3a (UP3a) (Uroplakin III) (UPIII)
length: 287
go: ENSG00000100373;
snps: rs6006979 rs1057353 rs121918187 rs121918186
sequence:

opentargets:
apical plasma membrane urothelial plaque [GO:0120001]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; cell morphogenesis [GO:0000902]; epithelial cell differentiation [GO:0030855]; kidney development [GO:0001822]; potassium ion homeostasis [GO:0055075]; sodium ion homeostasis [GO:0055078]; urea transport [GO:0015840]; urinary bladder development [GO:0060157]; water transport [GO:0006833]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75631-1; Sequence=Displayed; Name=2; IsoId=O75631-2; Sequence=VSP_030004; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Heterodimer formation with UPK1B is a prerequisite to exit out of the endoplasmic reticulum (ER). {ECO:0000250}.


uniprotID: B0FP48
geneSymbol: UPK3BL1
name: Uroplakin-3b-like protein 1
length: 263
go: ENSG00000267368;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q495M9
geneSymbol: USH1G
pdb: 2L7T;3K1R;3PVL;
name: Usher syndrome type-1G protein (Scaffold protein containing ankyrin repeats and SAM domain)
length: 461
go: ENSG00000182040;
snps: rs104894651 rs149529031 rs397517925
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; ciliary basal body [GO:0036064]; cytosol [GO:0005829]; photoreceptor connecting cilium [GO:0032391]; photoreceptor inner segment [GO:0001917]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; spectrin binding [GO:0030507]; equilibrioception [GO:0050957]; inner ear morphogenesis [GO:0042472]; inner ear receptor cell stereocilium organization [GO:0060122]; photoreceptor cell maintenance [GO:0045494]; sensory perception of light stimulus [GO:0050953]; sensory perception of sound [GO:0007605]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via interaction with CDH23 or PCDH15 (By similarity). {ECO:0000250}.


uniprotID: Q9BQ65
geneSymbol: USB1
pdb: 4H7W;5V1M;6D2Z;6D30;6D31;
name: U6 snRNA phosphodiesterase (hUsb1) (EC 3.1.4.-)
length: 265
go: ENSG00000103005;
snps: rs35025252 rs16959641
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03040, ECO:0000269|PubMed:22899009}.
sequence:

opentargets:
intercellular bridge [GO:0045171]; nucleus [GO:0005634]; 3'-5'-exoribonuclease activity [GO:0000175]; poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends [GO:1990838]; RNA splicing [GO:0008380]; U6 snRNA 3'-end processing [GO:0034477]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BQ65-1; Sequence=Displayed; Name=2; IsoId=Q9BQ65-2; Sequence=VSP_042878; Note=No experimental confirmation available.; Name=3; IsoId=Q9BQ65-3; Sequence=VSP_042936; Note=No experimental confirmation available.; 


uniprotID: P22415
geneSymbol: USF1
reactome: R-HSA-9018519;
pdb: 1AN4;
length: 310
go: ENSG00000158773;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Upstream stimulatory factor 1 (Class B basic helix-loop-helix protein 11) (bHLHb11) (Major late transcription factor 1)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; bHLH transcription factor binding [GO:0043425]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded DNA binding [GO:0003690]; enzyme binding [GO:0019899]; histone deacetylase binding [GO:0042826]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; carbon catabolite regulation of transcription [GO:0045990]; cellular response to insulin stimulus [GO:0032869]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; late viral transcription [GO:0019086]; lipid homeostasis [GO:0055088]; negative regulation of fibrinolysis [GO:0051918]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter by glucose [GO:0000432]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription from RNA polymerase II promoter by glucose [GO:0000430]; response to hypoxia [GO:0001666]; response to UV [GO:0009411]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22415-1; Sequence=Displayed; Name=2; Synonyms=usf1-bd; IsoId=P22415-2; Sequence=VSP_047740; 


uniprotID: Q9BVJ6
geneSymbol: UTP14A
reactome: R-HSA-6790901;R-HSA-6791226;
length: 771
go: ENSG00000156697;
snps: rs2281278 rs1055032
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
name:
U3 small nucleolar RNA-associated protein 14 homolog A (Antigen NY-CO-16) (Serologically defined colon cancer antigen 16)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BVJ6-1; Sequence=Displayed; Name=2; IsoId=Q9BVJ6-2; Sequence=VSP_014475, VSP_014476; Note=Gene prediction based on EST data. No experimental confirmation available.; Name=3; IsoId=Q9BVJ6-3; Sequence=VSP_046389; Note=No experimental confirmation available.; 


uniprotID: Q2YD98
geneSymbol: UVSSA
reactome: R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;
pdb: 5XV8;
name: UV-stimulated scaffold protein A
length: 709
go: ENSG00000163945;
snps: rs387907164 rs2276904 rs28522910
sequence:

opentargets:
chromosome [GO:0005694]; nucleoplasm [GO:0005654]; RNA polymerase II complex binding [GO:0000993]; protein ubiquitination [GO:0016567]; response to UV [GO:0009411]; transcription-coupled nucleotide-excision repair [GO:0006283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2YD98-1; Sequence=Displayed; Name=2; IsoId=Q2YD98-2; Sequence=VSP_030932; 

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:22466611, ECO:0000269|PubMed:22466612}. Note=Accumulates at UV DNA damage sites. {ECO:0000269|PubMed:22466611}.


uniprotID: Q8NBZ7
geneSymbol: UXS1
pdb: 2B69;4GLL;4LK3;4M55;
name: UDP-glucuronic acid decarboxylase 1 (EC 4.1.1.35) (UDP-glucuronate decarboxylase 1) (UGD) (UXS-1)
length: 420
go: ENSG00000115652;
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; NAD+ binding [GO:0070403]; protein homodimerization activity [GO:0042803]; UDP-glucuronate decarboxylase activity [GO:0048040]; protein tetramerization [GO:0051262]; UDP-D-xylose biosynthetic process [GO:0033320]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NBZ7-1; Sequence=Displayed; Name=2; IsoId=Q8NBZ7-2; Sequence=VSP_016757; Name=3; IsoId=Q8NBZ7-3; Sequence=VSP_016756; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.


uniprotID: P46937
geneSymbol: YAP1
reactome: R-HSA-1251985;R-HSA-2028269;R-HSA-2032785;R-HSA-8939236;R-HSA-8940973;R-HSA-8951671;
length: 504
go: ENSG00000137693;
snps: rs1162286204 rs376161041 rs777949318
pdb:
1JMQ;1K5R;1K9Q;1K9R;2LAW;2LAX;2LAY;2LTV;2LTW;3KYS;3MHR;4RE1;4REX;5OAQ;5YDX;5YDY;6GE3;6GE4;6GE5;6GE6;6GEC;6GEE;6GEG;6GEI;6GEK;

name:
Transcriptional coactivator YAP1 (Yes-associated protein 1) (Protein yorkie homolog) (Yes-associated protein YAP65 homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; TEAD-1-YAP complex [GO:0071148]; TEAD-2-YAP complex [GO:0071149]; activating transcription factor binding [GO:0033613]; chromatin binding [GO:0003682]; proline-rich region binding [GO:0070064]; protein C-terminus binding [GO:0008022]; protein heterodimerization activity [GO:0046982]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription regulatory region DNA binding [GO:0044212]; bud elongation involved in lung branching [GO:0060449]; cardiac muscle tissue regeneration [GO:0061026]; cell morphogenesis [GO:0000902]; cell proliferation [GO:0008283]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to gamma radiation [GO:0071480]; cellular response to retinoic acid [GO:0071300]; contact inhibition [GO:0060242]; embryonic heart tube morphogenesis [GO:0003143]; heart process [GO:0003015]; hippo signaling [GO:0035329]; keratinocyte differentiation [GO:0030216]; lateral mesoderm development [GO:0048368]; lung epithelial cell differentiation [GO:0060487]; negative regulation of epithelial cell differentiation [GO:0030857]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of stem cell differentiation [GO:2000737]; notochord development [GO:0030903]; paraxial mesoderm development [GO:0048339]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of intracellular estrogen receptor signaling pathway [GO:0033148]; positive regulation of stem cell population maintenance [GO:1902459]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; progesterone receptor signaling pathway [GO:0050847]; protein-containing complex assembly [GO:0065003]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of keratinocyte proliferation [GO:0010837]; regulation of metanephric nephron tubule epithelial cell differentiation [GO:0072307]; regulation of neurogenesis [GO:0050767]; regulation of stem cell proliferation [GO:0072091]; response to progesterone [GO:0032570]; somatic stem cell population maintenance [GO:0035019]; tissue homeostasis [GO:0001894]; transcription initiation from RNA polymerase II promoter [GO:0006367]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Comment=Isoforms of the YAP1-1 form contain only one WW domain.; Name=1; Synonyms=YAP1-2gamma, YAP2L; IsoId=P46937-1; Sequence=Displayed; Name=2; Synonyms=YAP1-2alpha, YAP2; IsoId=P46937-2; Sequence=VSP_039054; Name=3; Synonyms=YAP1-1beta; IsoId=P46937-3; Sequence=VSP_039053, VSP_039055; Name=4; IsoId=P46937-4; Sequence=VSP_045190; Note=No experimental confirmation available.; Name=5; Synonyms=YAP1-1alpha; IsoId=P46937-5; Sequence=VSP_039053, VSP_039054; Name=6; Synonyms=YAP1-1gamma; IsoId=P46937-6; Sequence=VSP_039053; Name=7; Synonyms=YAP1-1delta; IsoId=P46937-7; Sequence=VSP_039053, VSP_053483; Name=8; Synonyms=YAP1-2beta; IsoId=P46937-8; Sequence=VSP_039055; Name=9; Synonyms=YAP1-2delta; IsoId=P46937-9; Sequence=VSP_053483; Note=Highest expression in ovary and placenta, lowest in skeletal muscle and brain.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18158288, ECO:0000269|PubMed:18280240, ECO:0000269|PubMed:20048001, ECO:0000269|PubMed:22525271}. Nucleus {ECO:0000269|PubMed:17974916, ECO:0000269|PubMed:18158288, ECO:0000269|PubMed:18280240, ECO:0000269|PubMed:20048001, ECO:0000269|PubMed:22525271, ECO:0000269|PubMed:28169360}. Note=Both phosphorylation and cell density can regulate its subcellular localization. Phosphorylation sequesters it in the cytoplasm by inhibiting its translocation into the nucleus. At low density, predominantly nuclear and is translocated to the cytoplasm at high density (PubMed:18158288, PubMed:20048001). PTPN14 induces translocation from the nucleus to the cytoplasm (PubMed:22525271). {ECO:0000269|PubMed:18158288, ECO:0000269|PubMed:20048001, ECO:0000269|PubMed:22525271}.


uniprotID: Q9P0L0
geneSymbol: VAPA
reactome: R-HSA-1660661;R-HSA-6798695;
pdb: 2RR3;
length: 249
go: ENSG00000101558;
snps: rs1044163 rs1127666
name:
Vesicle-associated membrane protein-associated protein A (VAMP-A) (VAMP-associated protein A) (VAP-A) (33 kDa VAMP-associated protein) (VAP-33)

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; bicellular tight junction [GO:0005923]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; microtubule cytoskeleton [GO:0015630]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; cadherin binding [GO:0045296]; FFAT motif binding [GO:0033149]; microtubule binding [GO:0008017]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; cell death [GO:0008219]; COPII-coated vesicle budding [GO:0090114]; ER to Golgi vesicle-mediated transport [GO:0006888]; membrane fusion [GO:0061025]; negative regulation by host of viral genome replication [GO:0044828]; neuron projection development [GO:0031175]; neutrophil degranulation [GO:0043312]; positive regulation by host of viral genome replication [GO:0044829]; positive regulation by host of viral release from host cell [GO:0044791]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; protein localization to endoplasmic reticulum [GO:0070972]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P0L0-1; Sequence=Displayed; Name=2; IsoId=Q9P0L0-2; Sequence=VSP_038648; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10523508, ECO:0000269|PubMed:16143324, ECO:0000269|PubMed:19289470, ECO:0000269|PubMed:25447204}; Single-pass type IV membrane protein {ECO:0000269|PubMed:10523508, ECO:0000269|PubMed:19289470}. Cell membrane {ECO:0000269|PubMed:25447204}; Single-pass type IV membrane protein {ECO:0000305}. Cell junction, tight junction {ECO:0000269|PubMed:10523508}. Nucleus membrane {ECO:0000250|UniProtKB:Q9Z270}. Note=Present in the plasma membrane and in intracellular vesicles, together with SNARE proteins. May also associate with the cytoskeleton. Colocalizes with OCLN at the tight junction in polarized epithelial cells. {ECO:0000269|PubMed:10523508}.


uniprotID: Q7L8A9
geneSymbol: VASH1
length: 365
go: ENSG00000071246;
name:
Tubulinyl-Tyr carboxypeptidase 1 (EC 3.4.17.17) (Tubulin carboxypeptidase 1) (Tyrosine carboxypeptidase 1) (TTCP 1) (Vasohibin-1)

sequence:

opentargets:
apical part of cell [GO:0045177]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; actin binding [GO:0003779]; metallocarboxypeptidase activity [GO:0004181]; angiogenesis [GO:0001525]; cell cycle arrest [GO:0007050]; labyrinthine layer blood vessel development [GO:0060716]; negative regulation of angiogenesis [GO:0016525]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of lymphangiogenesis [GO:1901491]; proteolysis [GO:0006508]; regulation of cellular senescence [GO:2000772]; response to wounding [GO:0009611]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L8A9-1; Sequence=Displayed; Name=2; IsoId=Q7L8A9-2; Sequence=VSP_013324, VSP_013325; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15467828, ECO:0000269|PubMed:27879017}. Secreted {ECO:0000269|PubMed:15467828, ECO:0000269|PubMed:16707096, ECO:0000269|PubMed:20736312, ECO:0000269|PubMed:27879017}. Note=Mainly localizes in the cytoplasm (PubMed:27879017). Some fraction is secreted via a non-canonical secretion system; interaction with SVBP promotes secretion (PubMed:27879017). {ECO:0000269|PubMed:27879017}.


uniprotID: P50552
geneSymbol: VASP
reactome: R-HSA-202433;R-HSA-376176;R-HSA-446353;
pdb: 1EGX;1JNG;1USD;1USE;2PAV;2PBD;3CHW;
name: Vasodilator-stimulated phosphoprotein (VASP)
length: 380
go: ENSG00000125753;
snps: rs10415373 rs34345197
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; bicellular tight junction [GO:0005923]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; filopodium membrane [GO:0031527]; focal adhesion [GO:0005925]; lamellipodium membrane [GO:0031258]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; profilin binding [GO:0005522]; SH3 domain binding [GO:0017124]; actin polymerization or depolymerization [GO:0008154]; axon guidance [GO:0007411]; cell junction assembly [GO:0034329]; neural tube closure [GO:0001843]; positive regulation of actin filament polymerization [GO:0030838]; protein homotetramerization [GO:0051289]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell junction, tight junction {ECO:0000250}. Cell projection, lamellipodium membrane. Cell projection, filopodium membrane. Note=Targeted to stress fibers and focal adhesions through interaction with a number of proteins including MRL family members. Localizes to the plasma membrane in protruding lamellipodia and filopodial tips. Stimulation by thrombin or PMA, also translocates VASP to focal adhesions. Localized along the sides of actin filaments throughout the peripheral cytoplasm under basal conditions. In pre-apoptotic cells, colocalizes with MEFV in large specks (pyroptosomes).


uniprotID: Q9HCJ6
geneSymbol: VAT1L
pdb: 4A27;
name: Synaptic vesicle membrane protein VAT-1 homolog-like (EC 1.-.-.-)
length: 419
go: ENSG00000171724;
opentargets: oxidoreductase activity [GO:0016491]; zinc ion binding [GO:0008270]
sequence:


uniprotID: P38606
geneSymbol: ATP6V1A
reactome: R-HSA-1222556;R-HSA-77387;R-HSA-917977;R-HSA-983712;
length: 617
go: ENSG00000114573;
drug: DB00630;DB06733;DB06734;DB01077;DB01133;
snps: rs1060505037 rs1060505036
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:29668857}.
name:
V-type proton ATPase catalytic subunit A (V-ATPase subunit A) (EC 7.1.2.2) (V-ATPase 69 kDa subunit) (Vacuolar ATPase isoform VA68) (Vacuolar proton pump subunit alpha)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; lysosomal membrane [GO:0005765]; microvillus [GO:0005902]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; proton-transporting two-sector ATPase complex [GO:0016469]; proton-transporting V-type ATPase, V1 domain [GO:0033180]; vacuolar membrane [GO:0005774]; ATP binding [GO:0005524]; proton-transporting ATPase activity, rotational mechanism [GO:0046961]; ATP hydrolysis coupled proton transport [GO:0015991]; ATP metabolic process [GO:0046034]; cellular iron ion homeostasis [GO:0006879]; cellular response to increased oxygen levels [GO:0036295]; insulin receptor signaling pathway [GO:0008286]; ion transmembrane transport [GO:0034220]; regulation of macroautophagy [GO:0016241]; transferrin transport [GO:0033572]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P38606-1; Sequence=Displayed; Name=2; IsoId=P38606-2; Sequence=VSP_056408; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; 


uniprotID: P21281
geneSymbol: ATP6V1B2
reactome: R-HSA-1222556;R-HSA-77387;R-HSA-917977;R-HSA-983712;
length: 511
go: ENSG00000147416;
drug: DB07347;DB05260;
snps: rs730882177
name:
V-type proton ATPase subunit B, brain isoform (V-ATPase subunit B 2) (Endomembrane proton pump 58 kDa subunit) (HO57) (Vacuolar proton pump subunit B 2)

sequence:

opentargets:
cytosol [GO:0005829]; endomembrane system [GO:0012505]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; melanosome [GO:0042470]; microvillus [GO:0005902]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; proton-transporting V-type ATPase, V1 domain [GO:0033180]; ruffle [GO:0001726]; ATP binding [GO:0005524]; proton transmembrane transporter activity [GO:0015078]; proton-transporting ATPase activity, rotational mechanism [GO:0046961]; ATP hydrolysis coupled proton transport [GO:0015991]; ATP metabolic process [GO:0046034]; insulin receptor signaling pathway [GO:0008286]; ion transmembrane transport [GO:0034220]; proton transmembrane transport [GO:1902600]; regulation of macroautophagy [GO:0016241]; transferrin transport [GO:0033572]

location:
SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein. Melanosome. Note=Endomembrane. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: A6NGE7
geneSymbol: URAD
length: 173
snps: rs3897926
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000305}.
name:
Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase (OHCU decarboxylase) (EC 4.1.1.97) (Parahox neighbor) (Ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase)

sequence:
MDIEKVNSMDLGEFVDVFGNATERCPLIAAAVWSQRPFSDLEDLEKHFFAFIDALAQSGQEGILRCHPDLAGSELQRGTLTAESQREQSGAGLRSLGADERLRLAELNAQYRARFGFPFVLAARFSDRTAVPRELARRLLCPSAQELRTALGEVKKIGSLRLADLLRADPAKL

opentargets:
peroxisome [GO:0005777]; carboxy-lyase activity [GO:0016831]; allantoin biosynthetic process [GO:0019428]; purine nucleobase metabolic process [GO:0006144]; urate catabolic process [GO:0019628]


uniprotID: Q14146
geneSymbol: URB2
name: Unhealthy ribosome biogenesis protein 2 homolog
length: 1524
go: ENSG00000135763;
snps: rs3811473 rs12142450
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:15635413}.
sequence:

opentargets:
aggresome [GO:0016235]; midbody [GO:0030496]; nucleolus [GO:0005730]; ribosome biogenesis [GO:0042254]


uniprotID: Q9BTM9
geneSymbol: URM1
reactome: R-HSA-6782315;
name: Ubiquitin-related modifier 1
length: 101
go: ENSG00000167118;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:
MAAPLSVEVEFGGGAELLFDGIKKHRVTLPGQEEPWDIRNLLIWIKKNLLKERPELFIQGDSVRPGILVLINDADWELLGELDYQLQDQDSVLFISTLHGG

opentargets:
cytosol [GO:0005829]; protein urmylation [GO:0032447]; tRNA thio-modification [GO:0034227]; tRNA wobble uridine modification [GO:0002098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BTM9-1; Sequence=Displayed; Name=2; IsoId=Q9BTM9-2; Sequence=VSP_040026; Name=3; IsoId=Q9BTM9-3; Sequence=VSP_054296; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: P07911
geneSymbol: UMOD
reactome: R-HSA-446203;
pdb: 4WRN;
name: Uromodulin (Tamm-Horsfall urinary glycoprotein) (THP) [Cleaved into: Uromodulin, secreted form]
length: 640
go: ENSG00000169344;
sequence:

opentargets:
anchored component of membrane [GO:0031225]; apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; ciliary membrane [GO:0060170]; cilium [GO:0005929]; extracellular exosome [GO:0070062]; extrinsic component of membrane [GO:0019898]; Golgi lumen [GO:0005796]; spindle pole [GO:0000922]; calcium ion binding [GO:0005509]; IgG binding [GO:0019864]; cellular defense response [GO:0006968]; excretion [GO:0007588]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; ion homeostasis [GO:0050801]; leukocyte cell-cell adhesion [GO:0007159]; metanephric ascending thin limb development [GO:0072218]; metanephric distal convoluted tubule development [GO:0072221]; metanephric thick ascending limb development [GO:0072233]; negative regulation of cell proliferation [GO:0008285]; neutrophil migration [GO:1990266]

snps:
rs121917768 rs28934584 rs780462125 rs121917769 rs121917770 rs28934582 rs28934583 rs28934583 rs1447458978 rs886043751 rs121917771 rs121917772 rs121917773 rs55772253 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P07911-1; Sequence=Displayed; Name=2; IsoId=P07911-2; Sequence=VSP_017565; Note=No experimental confirmation available.; Name=3; IsoId=P07911-3; Sequence=VSP_017566; Note=No experimental confirmation available.; Name=4; IsoId=P07911-4; Sequence=VSP_040973; Name=5; IsoId=P07911-5; Sequence=VSP_054828; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:22776760, ECO:0000269|PubMed:23988501, ECO:0000269|PubMed:26673890, ECO:0000269|PubMed:7028707}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:2249987}. Basolateral cell membrane {ECO:0000269|PubMed:7028707}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:2249987}. Cell projection, cilium membrane {ECO:0000269|PubMed:20172860}. Note=Only a small fraction sorts to the basolateral pole of tubular epithelial cells compared to apical localization (PubMed:22776760). Secreted into urine after cleavage (PubMed:18375198, PubMed:26811476). Colocalizes with NPHP1 and KIF3A (PubMed:20172860). {ECO:0000269|PubMed:18375198, ECO:0000269|PubMed:20172860, ECO:0000269|PubMed:26811476, ECO:0000269|PubMed:3453112, ECO:0000269|PubMed:7028707}.; SUBCELLULAR LOCATION: Uromodulin, secreted form: Secreted {ECO:0000269|PubMed:18375198, ECO:0000269|PubMed:19005207, ECO:0000269|PubMed:26673890, ECO:0000269|PubMed:26811476, ECO:0000269|PubMed:3453112, ECO:0000269|PubMed:7028707}. Note=Detected in urine. {ECO:0000269|PubMed:18375198, ECO:0000269|PubMed:26811476, ECO:0000269|PubMed:3453112, ECO:0000269|PubMed:7028707}.


uniprotID: Q92738
geneSymbol: USP6NL
reactome: R-HSA-6811440;
name: USP6 N-terminal-like protein (Related to the N-terminus of tre) (RN-tre)
length: 828
go: ENSG00000148429;
location: SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle.
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; Golgi organization [GO:0007030]; intracellular protein transport [GO:0006886]; plasma membrane to endosome transport [GO:0048227]; positive regulation of GTPase activity [GO:0043547]; regulation of Golgi organization [GO:1903358]; retrograde transport, plasma membrane to Golgi [GO:0035526]; virion assembly [GO:0019068]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92738-1; Sequence=Displayed; Name=2; IsoId=Q92738-2; Sequence=VSP_040850; 


uniprotID: Q9Y6N9
geneSymbol: USH1C
pdb: 1X5N;2KBQ;2KBR;2KBS;2LSR;3K1R;5F3X;5MV8;5MV9;5XBF;
length: 552
go: ENSG00000006611;
snps: rs1064074
name:
Harmonin (Antigen NY-CO-38/NY-CO-37) (Autoimmune enteropathy-related antigen AIE-75) (Protein PDZ-73) (Renal carcinoma antigen NY-REN-3) (Usher syndrome type-1C protein)

sequence:

opentargets:
apical part of cell [GO:0045177]; brush border [GO:0005903]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; microvillus [GO:0005902]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; stereocilia ankle link [GO:0002141]; stereocilia ankle link complex [GO:0002142]; stereocilium [GO:0032420]; stereocilium tip [GO:0032426]; synapse [GO:0045202]; actin filament binding [GO:0051015]; spectrin binding [GO:0030507]; actin filament bundle assembly [GO:0051017]; brush border assembly [GO:1904970]; cellular protein-containing complex assembly [GO:0034622]; equilibrioception [GO:0050957]; G2/M transition of mitotic cell cycle [GO:0000086]; inner ear auditory receptor cell differentiation [GO:0042491]; inner ear morphogenesis [GO:0042472]; inner ear receptor cell stereocilium organization [GO:0060122]; parallel actin filament bundle assembly [GO:0030046]; photoreceptor cell maintenance [GO:0045494]; protein localization to microvillus [GO:1904106]; regulation of microvillus length [GO:0032532]; sensory perception of light stimulus [GO:0050953]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9Y6N9-1; Sequence=Displayed; Name=2; IsoId=Q9Y6N9-2; Sequence=VSP_003789; Name=3; IsoId=Q9Y6N9-3; Sequence=VSP_003790; 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=Q9Y6N9-4; Sequence=VSP_007422; Note=No experimental confirmation available.; Name=5; IsoId=Q9Y6N9-5; Sequence=VSP_043520, VSP_043521; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20142502}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19297620, ECO:0000269|PubMed:21709241}. Cell projection, microvillus {ECO:0000269|PubMed:24725409}. Note=Colocalizes with F-actin (By similarity). Detected at the tip of cochlear hair cell stereocilia (By similarity). Enriched in microvilli of the intestinal brush border (PubMed:24725409). {ECO:0000250|UniProtKB:Q9ES64, ECO:0000269|PubMed:24725409}.


uniprotID: O75445
geneSymbol: USH2A
name: Usherin (Usher syndrome type IIa protein) (Usher syndrome type-2A protein)
length: 5202
go: ENSG00000042781;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basement membrane [GO:0005604]; ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; periciliary membrane compartment [GO:1990075]; photoreceptor connecting cilium [GO:0032391]; photoreceptor inner segment [GO:0001917]; stereocilia ankle link complex [GO:0002142]; stereocilium bundle [GO:0032421]; stereocilium membrane [GO:0060171]; USH2 complex [GO:1990696]; collagen binding [GO:0005518]; myosin binding [GO:0017022]; protein homodimerization activity [GO:0042803]; establishment of protein localization [GO:0045184]; hair cell differentiation [GO:0035315]; inner ear receptor cell differentiation [GO:0060113]; maintenance of animal organ identity [GO:0048496]; photoreceptor cell maintenance [GO:0045494]; response to stimulus [GO:0050896]; sensory perception of light stimulus [GO:0050953]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]

snps:
rs1381795491 rs10779261 rs1171672823 rs397518026 rs45500891 rs111033280 rs748465849 rs121912599 rs758303489 rs397517963 rs369522997 rs780308389 rs750651679 rs949082769 rs121912600 rs35730265 rs111033273 rs35818432 rs200496467 rs1805048 rs696723 rs80338902 rs111033282 rs397518006 rs201527662 rs727503735 rs547581739 rs761656866 rs766108245 rs1805049 rs373599651 rs111033333 rs56222536 rs771088957 rs770329105 rs200209833 rs375668376 rs41302239 rs75698489 rs114402911 rs149202379 rs6657250 rs111033450 rs10864219 rs79444516 rs41277212 rs41277210 rs201386640 rs111033394 rs368681648 rs56385601 rs189748047 rs398124620 rs750687826 rs1424639717 rs201863550 rs111033262 rs111033529 rs59174500 rs12118814 rs41277200 rs754774098 rs56056328 rs41277194 rs56032526 rs11120645 rs4129843 rs527236118 rs111033263 rs148660051 rs553202000 rs10864198 rs368049814 rs1308924086 rs200372118 rs527236119 rs111033264 rs111033439 rs202175091 rs115403785 rs778158900 rs527236139 rs11120616 rs765306173 rs35309576 rs41303285 rs1472714005 rs182741276 rs142381713 rs111033275 rs754560357 rs199605265 rs148556640 rs745371873 rs372137776 rs527236137 rs201238640 rs111033381 rs753330544 rs139474806 rs768893227 rs138879998 rs730254 rs376077079 rs527236124 rs1369860869 rs41302237 rs80338904 rs45549044 rs12085354 rs397517990 rs113447586 rs199851839 rs143344549 rs41315587 rs143275144 rs200570742 rs77211159 rs200949691 rs56136489 rs754834155 rs41308435 rs56038610 rs145771342 rs111033435 rs111033269 rs58257972 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=b; IsoId=O75445-1; Sequence=Displayed; Name=2; IsoId=O75445-2; Sequence=VSP_017771, VSP_017772; Name=3; IsoId=O75445-3; Sequence=VSP_017773; 

location:
SUBCELLULAR LOCATION: Cell projection, stereocilium membrane {ECO:0000269|PubMed:14676276}; Single-pass type I membrane protein {ECO:0000269|PubMed:14676276}. Note=Probable component of the interstereocilia ankle links in the inner ear sensory cells.; SUBCELLULAR LOCATION: Isoform 2: Secreted.


uniprotID: Q8N6Y0
geneSymbol: USHBP1
length: 703
go: ENSG00000130307;
opentargets: PDZ domain binding [GO:0030165]
snps: rs9676419 rs12459398 rs1043963
name:
Usher syndrome type-1C protein-binding protein 1 (USH1C-binding protein 1) (AIE-75-binding protein) (MCC-2) (Mutated in colon cancer protein 2)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:11311560, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}; IsoId=Q8N6Y0-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:11311560}; IsoId=Q8N6Y0-2; Sequence=VSP_052080; Note=Due to the retention of an intron in the cDNA leading to a prematurate stop codon. {ECO:0000269|PubMed:11311560}; 


uniprotID: O75691
geneSymbol: UTP20
reactome: R-HSA-6790901;R-HSA-6791226;
length: 2785
go: ENSG00000120800;
snps: rs2290723 rs4764643 rs140657361 rs10082778 rs1061436
name:
Small subunit processome component 20 homolog (Down-regulated in metastasis protein) (Novel nucleolar protein 73) (NNP73) (Protein Key-1A6)

sequence:

opentargets:
90S preribosome [GO:0030686]; cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; preribosome, small subunit precursor [GO:0030688]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000480]; endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000447]; endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000472]; negative regulation of cell proliferation [GO:0008285]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11790298, ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:16458307}. Note=Colocalizes with NCL in the nucleolus.


uniprotID: Q765I0
geneSymbol: UTS2B
reactome: R-HSA-375276;R-HSA-416476;
length: 119
go: ENSG00000188958;
snps: rs6788319
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Urotensin-2B (Urotensin II-related peptide) (Urotensin IIB) (U-IIB) (UIIB) (Urotensin-2 domain-containing protein)

sequence:
MNKILSSTVCFGLLTLLSVLSFLQSVHGRPYLTQGNEIFPDKKYTNREELLLALLNKNFDFQRPFNTDLALPNKLEELNQLEKLKEQLVEEKDSETSYAVDGLFSSHPSKRACFWKYCV

opentargets:
extracellular region [GO:0005576]; G protein-coupled receptor binding [GO:0001664]; hormone activity [GO:0005179]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of blood pressure [GO:0008217]; regulation of blood vessel diameter [GO:0097746]


uniprotID: Q8N2B8
name: Putative uncharacterized protein FLJ33534
length: 174
sequence:
MGLLSQRKWTLSGSQQTGCVALTVPSFPWVASRMHYGRKQVSWIIFLKIGAGCQVHVGHDCSTLRRQQGAPWSFASSFRPAASPLAPPSPGVSGLFPPHERWSGGSQTRCGKCVKMQILGSTLKLFRHPPSQVTRLWGRHHLKTPAPFLQSPGIQLNPGKVPASLLRLATWKPL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N2B8-1; Sequence=Displayed; Name=2; IsoId=Q8N2B8-2; Sequence=VSP_034139; Note=No experimental confirmation available.; 


uniprotID: Q9ULK5
geneSymbol: VANGL2
reactome: R-HSA-4086400;R-HSA-4608870;
name: Vang-like protein 2 (Loop-tail protein 1 homolog) (Strabismus 1) (Van Gogh-like protein 2)
length: 521
go: ENSG00000162738;
snps: rs267607167 rs267607168
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cell pole [GO:0060187]; cell-cell junction [GO:0005911]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; plasma membrane [GO:0005886]; stress fiber [GO:0001725]; anterior/posterior pattern specification [GO:0009952]; apical protein localization [GO:0045176]; cell migration involved in kidney development [GO:0035787]; cochlea morphogenesis [GO:0090103]; convergent extension involved in axis elongation [GO:0060028]; convergent extension involved in neural plate elongation [GO:0022007]; digestive tract morphogenesis [GO:0048546]; dopaminergic neuron axon guidance [GO:0036514]; establishment of body hair planar orientation [GO:0048105]; establishment of planar polarity [GO:0001736]; establishment of planar polarity involved in neural tube closure [GO:0090177]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; glomerulus development [GO:0032835]; hair follicle development [GO:0001942]; heart looping [GO:0001947]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; inner ear receptor cell stereocilium organization [GO:0060122]; kidney morphogenesis [GO:0060993]; lateral sprouting involved in lung morphogenesis [GO:0060490]; membranous septum morphogenesis [GO:0003149]; muscular septum morphogenesis [GO:0003150]; neural tube closure [GO:0001843]; non-motile cilium assembly [GO:1905515]; orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis [GO:0060488]; planar cell polarity pathway involved in axis elongation [GO:0003402]; planar cell polarity pathway involved in axon guidance [GO:1904938]; planar cell polarity pathway involved in heart morphogenesis [GO:0061346]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; planar dichotomous subdivision of terminal units involved in lung branching morphogenesis [GO:0060489]; positive regulation of JUN kinase activity [GO:0043507]; post-anal tail morphogenesis [GO:0036342]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of Wnt signaling pathway [GO:0030111]; Rho protein signal transduction [GO:0007266]; serotonergic neuron axon guidance [GO:0036515]; somatic stem cell division [GO:0048103]; somatic stem cell population maintenance [GO:0035019]; wound healing [GO:0042060]


uniprotID: O95183
geneSymbol: VAMP5
name: Vesicle-associated membrane protein 5 (VAMP-5) (Myobrevin)
length: 116
go: ENSG00000168899;
sequence:
MAGIELERCQQQANEVTEIMRNNFGKVLERGVKLAELQQRSDQLLDMSSTFNKTTQNLAQKKCWENIRYRICVGLVVVGVLLIILIVLLVVFLPQSSDSSSAPRTQDAGIASGPGN

opentargets:
cell surface [GO:0009986]; cytoplasmic vesicle membrane [GO:0030659]; extracellular exosome [GO:0070062]; integral component of organelle membrane [GO:0031301]; integral component of plasma membrane [GO:0005887]; intercalated disc [GO:0014704]; late endosome [GO:0005770]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; cell differentiation [GO:0030154]; Golgi to plasma membrane protein transport [GO:0043001]; muscle organ development [GO:0007517]; skeletal muscle tissue development [GO:0007519]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}. Endomembrane system {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}. Golgi apparatus, trans-Golgi network membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}. Note=Associated with the plasma membrane as well as intracellular perinuclear and peripheral vesicular structures of myotubes. Associated with the trans-Golgi, but not with the cis-Golgi apparatus (By similarity). {ECO:0000250}.


uniprotID: Q9BV40
geneSymbol: VAMP8
reactome: R-HSA-1236974;R-HSA-421837;R-HSA-432720;R-HSA-432722;R-HSA-6798695;R-HSA-8856825;R-HSA-8856828;
pdb: 4WY4;
name: Vesicle-associated membrane protein 8 (VAMP-8) (Endobrevin) (EDB)
length: 100
go: ENSG00000118640;
sequence:
MEEASEGGGNDRVRNLQSEVEGVKNIMTQNVERILARGENLEHLRNKTEDLEATSEHFKTTSQKVARKFWWKNVKMIVLICVIVFIIILFIVLFATGAFS

opentargets:
azurophil granule membrane [GO:0035577]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; mucin granule [GO:0098594]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; recycling endosome membrane [GO:0055038]; secretory granule membrane [GO:0030667]; SNARE complex [GO:0031201]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; vesicle [GO:0031982]; chloride channel inhibitor activity [GO:0019869]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; autophagosome maturation [GO:0097352]; autophagosome membrane docking [GO:0016240]; membrane organization [GO:0061024]; mucus secretion [GO:0070254]; negative regulation of secretion by cell [GO:1903531]; neutrophil degranulation [GO:0043312]; positive regulation of histamine secretion by mast cell [GO:1903595]; protein transport [GO:0015031]; regulation of protein localization to plasma membrane [GO:1903076]; viral entry into host cell [GO:0046718]

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000250|UniProtKB:Q9WUF4}; Single-pass type IV membrane protein {ECO:0000305}. Early endosome membrane {ECO:0000269|PubMed:9614193}; Single-pass type IV membrane protein {ECO:0000305}. Late endosome membrane {ECO:0000250|UniProtKB:Q9WUF4}; Single-pass type IV membrane protein {ECO:0000305}. Cell membrane {ECO:0000250|UniProtKB:O70404}; Single-pass type IV membrane protein {ECO:0000305}. Note=Perinuclear vesicular structures of the early and late endosomes, coated pits, and trans-Golgi (By similarity). Sub-tight junctional domain in retinal pigment epithelium cells. Midbody region during cytokinesis. Lumenal oriented, apical membranes of nephric tubular cell (By similarity). Cycles through the apical but not through the basolateral plasma membrane (By similarity). Apical region of acinar cells; in zymogen granule membranes (By similarity). {ECO:0000250|UniProtKB:Q9WUF4}.


uniprotID: Q99536
geneSymbol: VAT1
reactome: R-HSA-6798695;
name: Synaptic vesicle membrane protein VAT-1 homolog (EC 1.-.-.-)
length: 393
go: ENSG00000108828;
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; oxidoreductase activity [GO:0016491]; zinc ion binding [GO:0008270]; negative regulation of mitochondrial fusion [GO:0010637]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99536-1; Sequence=Displayed; Name=2; IsoId=Q99536-2; Sequence=VSP_055794; Note=No experimental confirmation available.; Name=3; IsoId=Q99536-3; Sequence=VSP_055795; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion outer membrane; Peripheral membrane protein. Note=The majority is localized in the cytoplasm and a small amount is associated with mitochondria. {ECO:0000250}.


uniprotID: P15313
geneSymbol: ATP6V1B1
reactome: R-HSA-1222556;R-HSA-77387;R-HSA-917977;R-HSA-983712;
length: 513
go: ENSG00000116039;
snps: rs17720303 rs121964880 rs727505222 rs782500780 rs114234874 rs781838938 rs142905621
location: SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein. Note=Endomembrane.
name:
V-type proton ATPase subunit B, kidney isoform (V-ATPase subunit B 1) (Endomembrane proton pump 58 kDa subunit) (Vacuolar proton pump subunit B 1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extrinsic component of synaptic vesicle membrane [GO:0098850]; lateral plasma membrane [GO:0016328]; microvillus [GO:0005902]; proton-transporting V-type ATPase, V1 domain [GO:0033180]; vacuolar proton-transporting V-type ATPase complex [GO:0016471]; ATP binding [GO:0005524]; hydrolase activity [GO:0016787]; protein-containing complex binding [GO:0044877]; proton transmembrane transporter activity [GO:0015078]; ATP hydrolysis coupled proton transport [GO:0015991]; ATP metabolic process [GO:0046034]; calcium ion homeostasis [GO:0055074]; excretion [GO:0007588]; inner ear morphogenesis [GO:0042472]; insulin receptor signaling pathway [GO:0008286]; ion transmembrane transport [GO:0034220]; ossification [GO:0001503]; pH reduction [GO:0045851]; proton transmembrane transport [GO:1902600]; regulation of macroautophagy [GO:0016241]; regulation of pH [GO:0006885]; sensory perception of sound [GO:0007605]; transferrin transport [GO:0033572]


uniprotID: Q8NEY4
geneSymbol: ATP6V1C2
reactome: R-HSA-1222556;R-HSA-77387;R-HSA-917977;R-HSA-983712;
name: V-type proton ATPase subunit C 2 (V-ATPase subunit C 2) (Vacuolar proton pump subunit C 2)
length: 427
go: ENSG00000143882;
snps: rs1198849
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; lysosomal membrane [GO:0005765]; vacuolar proton-transporting V-type ATPase, V1 domain [GO:0000221]; protein dimerization activity [GO:0046983]; proton-exporting ATPase activity, phosphorylative mechanism [GO:0008553]; proton-transporting ATPase activity, rotational mechanism [GO:0046961]; ATP hydrolysis coupled proton transport [GO:0015991]; insulin receptor signaling pathway [GO:0008286]; ion transmembrane transport [GO:0034220]; positive regulation of Wnt signaling pathway [GO:0030177]; regulation of macroautophagy [GO:0016241]; transferrin transport [GO:0033572]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NEY4-1; Sequence=Displayed; Name=2; IsoId=Q8NEY4-2; Sequence=VSP_024883; 


uniprotID: Q99437
geneSymbol: ATP6V0B
reactome: R-HSA-1222556;R-HSA-77387;R-HSA-917977;R-HSA-983712;
length: 205
go: ENSG00000117410;
snps: rs373883976
location: SUBCELLULAR LOCATION: Vacuole membrane; Multi-pass membrane protein.
name:
V-type proton ATPase 21 kDa proteolipid subunit (V-ATPase 21 kDa proteolipid subunit) (Vacuolar proton pump 21 kDa proteolipid subunit) (hATPL)

sequence:

opentargets:
endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; phagocytic vesicle membrane [GO:0030670]; proton-transporting V-type ATPase, V0 domain [GO:0033179]; vacuolar membrane [GO:0005774]; proton-transporting ATPase activity, rotational mechanism [GO:0046961]; transporter activity [GO:0005215]; ATP hydrolysis coupled proton transport [GO:0015991]; insulin receptor signaling pathway [GO:0008286]; ion transmembrane transport [GO:0034220]; proton transmembrane transport [GO:1902600]; regulation of macroautophagy [GO:0016241]; transferrin transport [GO:0033572]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99437-1; Sequence=Displayed; Name=2; IsoId=Q99437-2; Sequence=VSP_046288; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9H322
geneSymbol: VCX2
length: 139
go: ENSG00000177504;
opentargets: brain development [GO:0007420]
snps: rs41309545 rs41305169 rs1058237 rs1058239
name:
Variable charge X-linked protein 2 (Variable charge protein on X with two repeats) (VCX-2r) (Variably charged protein X-B) (VCX-B)

sequence:
MSPKPRASGPPAKATEAGKRKSSSQPSPSDPKKKTTKVAKKGKAVRRGRRGKKGAATKMAAVTAPEAESAPAAPGPSDQPSQELPQHELPPEEPVSEGTQHDPLSQESEVEEPLSQESEVEEPLTVWMASFSPVSESTD


uniprotID: Q9UIW0
geneSymbol: VAX2
name: Ventral anterior homeobox 2
length: 290
go: ENSG00000116035;
snps: rs2234496 rs2234500
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; 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]; RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding [GO:0001162]; axonogenesis [GO:0007409]; dorsal/ventral axis specification [GO:0009950]; ectoderm development [GO:0007398]; embryonic eye morphogenesis [GO:0048048]; forebrain development [GO:0030900]; retina development in camera-type eye [GO:0060041]; visual perception [GO:0007601]; Wnt signaling pathway [GO:0016055]


uniprotID: Q9Y2T7
geneSymbol: YBX2
length: 364
go: ENSG00000006047;
snps: rs222859 rs8069533
name:
Y-box-binding protein 2 (Contrin) (DNA-binding protein C) (Dbpc) (Germ cell-specific Y-box-binding protein) (MSY2 homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA binding [GO:0003723]; oocyte development [GO:0048599]; positive regulation of cold-induced thermogenesis [GO:0120162]; spermatogenesis [GO:0007283]; transcription by RNA polymerase II [GO:0006366]; translational attenuation [GO:0009386]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16479255}. Nucleus {ECO:0000269|PubMed:16479255}.


uniprotID: O95847
geneSymbol: SLC25A27
reactome: R-HSA-167826;R-HSA-167827;
name: Mitochondrial uncoupling protein 4 (UCP 4) (Solute carrier family 25 member 27)
length: 323
go: ENSG00000153291;
snps: rs17853162 rs35884480
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
sequence:

opentargets:
apical part of cell [GO:0045177]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; cellular triglyceride homeostasis [GO:0035356]; inner ear development [GO:0048839]; negative regulation of apoptotic process [GO:0043066]; negative regulation of mitochondrial calcium ion concentration [GO:0051562]; negative regulation of mitochondrial membrane potential [GO:0010917]; neuron death [GO:0070997]; positive regulation of cell proliferation [GO:0008284]; proton transmembrane transport [GO:1902600]; regulation of glucose import [GO:0046324]; response to cold [GO:0009409]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95847-1; Sequence=Displayed; Name=2; IsoId=O95847-2; Sequence=VSP_045916; Note=No experimental confirmation available.; 


uniprotID: Q9HAW8
geneSymbol: UGT1A10
reactome: R-HSA-156588;
length: 530
go: ENSG00000242515;
drug: DB00316;DB00749;DB00678;DB00688;DB00197;DB00313;
snps: rs56935833 rs10187694 rs58704432 rs28969685
name:
UDP-glucuronosyltransferase 1-10 (UDPGT 1-10) (UGT1*10) (UGT1-10) (UGT1.10) (EC 2.4.1.17) (UDP-glucuronosyltransferase 1-J) (UGT-1J) (UGT1J) (UDP-glucuronosyltransferase 1A10)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; enzyme binding [GO:0019899]; glucuronosyltransferase activity [GO:0015020]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase C binding [GO:0005080]; UDP-glycosyltransferase activity [GO:0008194]; cellular glucuronidation [GO:0052695]; flavone metabolic process [GO:0051552]; flavonoid glucuronidation [GO:0052696]; negative regulation of cellular glucuronidation [GO:2001030]; negative regulation of fatty acid metabolic process [GO:0045922]; negative regulation of glucuronosyltransferase activity [GO:1904224]; xenobiotic glucuronidation [GO:0052697]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=i1; IsoId=Q9HAW8-1; Sequence=Displayed; Name=2; Synonyms=i2, UGT1A10s; IsoId=Q9HAW8-2; Sequence=VSP_053966; 

location:
SUBCELLULAR LOCATION: Microsome. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: P16662
geneSymbol: UGT2B7
reactome: R-HSA-156588;
pdb: 2O6L;
length: 529
go: ENSG00000171234;
snps: rs12233719 rs7439366 rs35590824
name:
UDP-glucuronosyltransferase 2B7 (UDPGT 2B7) (EC 2.4.1.17) (3,4-catechol estrogen-specific UDPGT) (UDP-glucuronosyltransferase 2B9) (UDPGT 2B9) (UDPGTh-2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; organelle membrane [GO:0031090]; glucuronosyltransferase activity [GO:0015020]; UDP-glycosyltransferase activity [GO:0008194]; androgen metabolic process [GO:0008209]; cellular glucuronidation [GO:0052695]; lipid metabolic process [GO:0006629]

drug:
DB06403;DB01076;DB00564;DB06777;DB00318;DB06695;DB06292;DB00586;DB00445;DB00749;DB00973;DB01544;DB00712;DB01095;DB01050;DB00328;DB00678;DB00227;DB01252;DB00295;DB00688;DB01024;DB00788;DB00842;DB08860;DB06207;DB00641;DB00870;DB06204;DB00197;DB00313;DB06737;DB00495;

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q3SY77
geneSymbol: UGT3A2
reactome: R-HSA-156588;
name: UDP-glucuronosyltransferase 3A2 (UDPGT 3A2) (EC 2.4.1.17)
length: 523
go: ENSG00000168671;
snps: rs2197514 rs138640717
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; glucuronosyltransferase activity [GO:0015020]; UDP-glycosyltransferase activity [GO:0008194]; cellular response to genistein [GO:0071412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3SY77-1; Sequence=Displayed; Name=2; IsoId=Q3SY77-2; Sequence=VSP_046099; Note=No experimental confirmation available.; 


uniprotID: P35503
geneSymbol: UGT1A3
reactome: R-HSA-156588;
length: 534
go: ENSG00000243135;
name:
UDP-glucuronosyltransferase 1-3 (UDPGT 1-3) (UGT1*3) (UGT1-03) (UGT1.3) (EC 2.4.1.17) (UDP-glucuronosyltransferase 1-C) (UGT-1C) (UGT1C) (UDP-glucuronosyltransferase 1A3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; enzyme binding [GO:0019899]; glucuronosyltransferase activity [GO:0015020]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; retinoic acid binding [GO:0001972]; UDP-glycosyltransferase activity [GO:0008194]; cellular glucuronidation [GO:0052695]; flavonoid glucuronidation [GO:0052696]; negative regulation of cellular glucuronidation [GO:2001030]; negative regulation of fatty acid metabolic process [GO:0045922]; negative regulation of glucuronosyltransferase activity [GO:1904224]; retinoic acid metabolic process [GO:0042573]; xenobiotic glucuronidation [GO:0052697]

drug:
DB06403;DB01076;DB00796;DB00434;DB06210;DB00749;DB00973;DB04953;DB01544;DB00712;DB01095;DB06741;DB01050;DB01029;DB00555;DB04725;DB00678;DB00227;DB01252;DB00295;DB08860;DB00641;DB00197;DB00313;

snps:
rs28898617 rs3821242 rs45625338 rs6431625 rs45595237 rs28898618 rs28898619 rs13406898 rs61764030 rs45449995 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=i1; IsoId=P35503-1; Sequence=Displayed; Name=2; Synonyms=i2, UGT1A3s; IsoId=P35503-3; Sequence=VSP_053959; 

location:
SUBCELLULAR LOCATION: Microsome. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: P36537
geneSymbol: UGT2B10
reactome: R-HSA-156588;
name: UDP-glucuronosyltransferase 2B10 (UDPGT 2B10) (EC 2.4.1.17)
length: 528
go: ENSG00000109181;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; transferase activity, transferring hexosyl groups [GO:0016758]; UDP-glycosyltransferase activity [GO:0008194]; lipid metabolic process [GO:0006629]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P36537-1; Sequence=Displayed; Name=2; IsoId=P36537-2; Sequence=VSP_054337; Note=No experimental confirmation available.; 


uniprotID: O75795
geneSymbol: UGT2B17
reactome: R-HSA-156588;
length: 530
go: ENSG00000197888;
drug: DB00678;
name:
UDP-glucuronosyltransferase 2B17 (UDPGT 2B17) (EC 2.4.1.17) (C19-steroid-specific UDP-glucuronosyltransferase) (C19-steroid-specific UDPGT)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; organelle membrane [GO:0031090]; glucuronosyltransferase activity [GO:0015020]; UDP-glycosyltransferase activity [GO:0008194]; cellular glucuronidation [GO:0052695]; steroid metabolic process [GO:0008202]


uniprotID: Q9NUQ7
geneSymbol: UFSP2
name: Ufm1-specific protease 2 (UfSP2) (EC 3.4.22.-)
length: 469
go: ENSG00000109775;
snps: rs17850669 rs796052130
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; thiolester hydrolase activity [GO:0016790]; UFM1 hydrolase activity [GO:0071567]; proteolysis [GO:0006508]; regulation of intracellular estrogen receptor signaling pathway [GO:0033146]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}. Nucleus {ECO:0000250}.


uniprotID: Q96RL1
geneSymbol: UIMC1
reactome: R-HSA-5689901;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-69473;
pdb: 2MKF;2MKG;2N9E;2RR9;
length: 719
go: ENSG00000087206;
snps: rs13167812 rs143282828 rs3733876 rs13360277 rs10475633
name:
BRCA1-A complex subunit RAP80 (Receptor-associated protein 80) (Retinoid X receptor-interacting protein 110) (Ubiquitin interaction motif-containing protein 1)

sequence:

opentargets:
BRCA1-A complex [GO:0070531]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone binding [GO:0042393]; K63-linked polyubiquitin modification-dependent protein binding [GO:0070530]; double-strand break repair [GO:0006302]; double-strand break repair via nonhomologous end joining [GO:0006303]; histone H2A K63-linked deubiquitination [GO:0070537]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of DNA repair [GO:0045739]; protein deubiquitination [GO:0016579]; response to ionizing radiation [GO:0010212]; signal transduction involved in G2 DNA damage checkpoint [GO:0072425]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96RL1-1; Sequence=Displayed; Name=2; IsoId=Q96RL1-2; Sequence=VSP_012935; Name=3; Synonyms=XHRIP110; IsoId=Q96RL1-3; Sequence=VSP_012932; Name=4; Synonyms=X2HRIP110; IsoId=Q96RL1-4; Sequence=VSP_012933, VSP_012934; Name=5; IsoId=Q96RL1-5; Sequence=VSP_037264, VSP_037265; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12080054, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17525341, ECO:0000269|PubMed:17525342, ECO:0000269|PubMed:17621610, ECO:0000269|PubMed:17643121}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs).


uniprotID: Q96T88
geneSymbol: UHRF1
reactome: R-HSA-5334118;
length: 793
go: ENSG00000276043;
snps: rs17886098 rs17885791 rs2307209 rs17884843 rs17883563
pdb:
2FAZ;2L3R;2LGG;2LGK;2LGL;2PB7;3ASK;3ASL;3BI7;3CLZ;3DB3;3DB4;3DWH;3FL2;3SHB;3SOU;3SOW;3SOX;3T6R;3ZVY;3ZVZ;4GY5;4QQD;5C6D;5IAY;5XPI;6B9M;

name:
E3 ubiquitin-protein ligase UHRF1 (EC 2.3.2.27) (Inverted CCAAT box-binding protein of 90 kDa) (Nuclear protein 95) (Nuclear zinc finger protein Np95) (HuNp95) (hNp95) (RING finger protein 106) (RING-type E3 ubiquitin transferase UHRF1) (Transcription factor ICBP90) (Ubiquitin-like PHD and RING finger domain-containing protein 1) (hUHRF1) (Ubiquitin-like-containing PHD and RING finger domains protein 1)

sequence:

opentargets:
euchromatin [GO:0000791]; heterochromatin [GO:0000792]; nuclear chromatin [GO:0000790]; nuclear heterochromatin [GO:0005720]; nuclear matrix [GO:0016363]; nucleus [GO:0005634]; replication fork [GO:0005657]; DNA-binding transcription factor activity [GO:0003700]; hemi-methylated DNA-binding [GO:0044729]; histone binding [GO:0042393]; identical protein binding [GO:0042802]; methyl-CpG binding [GO:0008327]; methylated histone binding [GO:0035064]; nucleosomal histone binding [GO:0031493]; proximal promoter sequence-specific DNA binding [GO:0000987]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; cell cycle [GO:0007049]; cell proliferation [GO:0008283]; DNA repair [GO:0006281]; histone monoubiquitination [GO:0010390]; histone ubiquitination [GO:0016574]; maintenance of DNA methylation [GO:0010216]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity [GO:2000373]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein autoubiquitination [GO:0051865]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96T88-1; Sequence=Displayed; Name=2; IsoId=Q96T88-2; Sequence=VSP_044394; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00358, ECO:0000269|PubMed:10646863, ECO:0000269|PubMed:17673620, ECO:0000269|PubMed:17967883, ECO:0000269|PubMed:19056828, ECO:0000269|PubMed:21777816}. Note=Localizes to replication foci. Enriched in pericentric heterochromatin. Also localizes to euchromatic regions.


uniprotID: Q9BZM6
geneSymbol: ULBP1
reactome: R-HSA-198933;
length: 244
go: ENSG00000111981;
snps: rs6903584
name:
UL16-binding protein 1 (ALCAN-beta) (NKG2D ligand 1) (N2DL-1) (NKG2DL1) (Retinoic acid early transcript 1I)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; anchored component of plasma membrane [GO:0046658]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; plasma membrane [GO:0005886]; natural killer cell lectin-like receptor binding [GO:0046703]; immune response [GO:0006955]; natural killer cell activation [GO:0030101]; natural killer cell mediated cytotoxicity [GO:0042267]; regulation of immune response [GO:0050776]; susceptibility to natural killer cell mediated cytotoxicity [GO:0042271]; T cell mediated cytotoxicity [GO:0001913]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12782710}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:12782710}. Endoplasmic reticulum {ECO:0000269|PubMed:12782710}. Note=In CMV-infected fibroblasts, detected in the endoplasmic reticulum/cis-Golgi. {ECO:0000269|PubMed:12782710}.


uniprotID: Q8IV45
geneSymbol: UNC5CL
name: UNC5C-like protein (Protein unc-5 homolog C-like) (ZU5 and death domain-containing protein)
length: 518
go: ENSG00000124602;
snps: rs742493
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; netrin receptor activity [GO:0005042]; peptidase activity [GO:0008233]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of JNK cascade [GO:0046330]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type III membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:14769797}.


uniprotID: Q86WB7
geneSymbol: UNC93A
name: Protein unc-93 homolog A (HmUnc-93A) (Unc-93A)
length: 457
go: ENSG00000112494;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
sequence:

snps:
rs36110805 rs35313366 rs2072767 rs4708771 rs35854179 rs663227 rs9459921 rs663606 rs7739897 rs752323292 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86WB7-1; Sequence=Displayed; Name=2; IsoId=Q86WB7-2; Sequence=VSP_042772; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12381271}; Multi-pass membrane protein {ECO:0000269|PubMed:12381271}.


uniprotID: Q9P2D8
geneSymbol: UNC79
reactome: R-HSA-2672351;
name: Protein unc-79 homolog
length: 2635
go: ENSG00000133958;
snps: rs28670114 rs4905081 rs2296687 rs7359096
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; behavioral response to ethanol [GO:0048149]; ion transmembrane transport [GO:0034220]; multicellular organism growth [GO:0035264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P2D8-1; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=2; IsoId=Q9P2D8-2; Sequence=VSP_030583; Note=No experimental confirmation available.; Name=3; IsoId=Q9P2D8-3; Sequence=VSP_030584; Note=No experimental confirmation available.; 


uniprotID: Q9BRT2
geneSymbol: UQCC2
length: 126
go: ENSG00000137288;
name:
Ubiquinol-cytochrome-c reductase complex assembly factor 2 (Breast cancer-associated protein SGA-81M) (Mitochondrial nucleoid factor 1) (Mitochondrial protein M19)

sequence:
MAASRYRRFLKLCEEWPVDETKRGRDLGAYLRQRVAQAFREGENTQVAEPEACDQMYESLARLHSNYYKHKYPRPRDTSFSGLSLEEYKLILSTDTLEELKEIDKGMWKKLQEKFAPKGPEEDHKA

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nuclear body [GO:0016604]; mitochondrial respiratory chain complex III assembly [GO:0034551]; positive regulation of cellular protein catabolic process [GO:1903364]; positive regulation of mitochondrial translation [GO:0070131]; regulation of insulin secretion [GO:0050796]; regulation of oxidative phosphorylation [GO:0002082]; regulation of skeletal muscle cell differentiation [GO:2001014]

location:
SUBCELLULAR LOCATION: Mitochondrion matrix, mitochondrion nucleoid. Mitochondrion. Mitochondrion intermembrane space {ECO:0000250}. Mitochondrion matrix {ECO:0000250}. Mitochondrion inner membrane {ECO:0000250}. Note=Predominantly expressed in the mitochondrial inner membrane. {ECO:0000250}.


uniprotID: Q9UKP6
geneSymbol: UTS2R
reactome: R-HSA-375276;R-HSA-416476;
name: Urotensin-2 receptor (UR-2-R) (G-protein coupled receptor 14) (Urotensin II receptor) (UR-II-R)
length: 389
go: ENSG00000181408;
snps: rs34442190 rs770047242
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; G protein-coupled receptor activity [GO:0004930]; urotensin II receptor activity [GO:0001604]; blood circulation [GO:0008015]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]; regulation of blood pressure [GO:0008217]; regulation of blood vessel diameter [GO:0097746]; signal transduction [GO:0007165]


uniprotID: Q8TCY9
geneSymbol: URGCP
length: 931
go: ENSG00000106608;
opentargets: cytosol [GO:0005829]; nucleus [GO:0005634]; GTP binding [GO:0005525]; cell cycle [GO:0007049]
snps: rs2232106 rs2232107 rs2232108
name:
Up-regulator of cell proliferation (HBV X protein up-regulated gene 4 protein) (HBxAg up-regulated gene 4 protein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TCY9-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:12082552, ECO:0000269|PubMed:15489334}; IsoId=Q8TCY9-2; Sequence=VSP_052799; Name=3; IsoId=Q8TCY9-3; Sequence=VSP_033942; Note=No experimental confirmation available.; Name=4; IsoId=Q8TCY9-4; Sequence=VSP_047068; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12082552, ECO:0000269|PubMed:17217616}. Nucleus {ECO:0000269|PubMed:12082552, ECO:0000269|PubMed:17217616}. Note=In epithelial cells localized predominantly in the cytoplasm and occasionally in nuclei.


uniprotID: O00507
geneSymbol: USP9Y
length: 2555
go: ENSG00000114374;
snps: rs7067496 rs2032596 rs20319 rs20320 rs2032606
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Probable ubiquitin carboxyl-terminal hydrolase FAF-Y (EC 3.4.19.12) (Deubiquitinating enzyme FAF-Y) (Fat facets protein-related, Y-linked) (Ubiquitin thioesterase FAF-Y) (Ubiquitin-specific protease 9, Y chromosome) (Ubiquitin-specific-processing protease FAF-Y)

sequence:

opentargets:
cytoplasm [GO:0005737]; co-SMAD binding [GO:0070410]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; BMP signaling pathway [GO:0030509]; protein deubiquitination [GO:0016579]; spermatogenesis [GO:0007283]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=Long; IsoId=O00507-1; Sequence=Displayed; Name=Short; IsoId=O00507-2; Sequence=VSP_005272; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q5TAP6
geneSymbol: UTP14C
reactome: R-HSA-6790901;R-HSA-6791226;
name: U3 small nucleolar RNA-associated protein 14 homolog C
length: 766
go: ENSG00000253797;
snps: rs3742289 rs3742290 rs17402034
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; small-subunit processome [GO:0032040]; cell differentiation [GO:0030154]; meiotic cell cycle [GO:0051321]; multicellular organism development [GO:0007275]; rRNA processing [GO:0006364]; spermatogenesis [GO:0007283]


uniprotID: Q13336
geneSymbol: SLC14A1
reactome: R-HSA-425366;
name: Urea transporter 1 (Solute carrier family 14 member 1) (Urea transporter, erythrocyte)
length: 389
go: ENSG00000141469;
drug: DB03904;
snps: rs2298720 rs749037771 rs2298719 rs9948825 rs1058396 rs78242949 rs538368217 rs565898944
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; urea channel activity [GO:0015265]; urea transmembrane transporter activity [GO:0015204]; water transmembrane transporter activity [GO:0005372]; transmembrane transport [GO:0055085]; urea transmembrane transport [GO:0071918]; urea transport [GO:0015840]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13336-1; Sequence=Displayed; Name=2; IsoId=Q13336-2; Sequence=VSP_041573; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23219802}; Multi-pass membrane protein {ECO:0000269|PubMed:23219802}. Basolateral cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Restricted to the basolateral membrane in various portions of the urothelium. {ECO:0000250}.


uniprotID: O60763
geneSymbol: USO1
reactome: R-HSA-162658;R-HSA-204005;R-HSA-6807878;
pdb: 2W3C;
length: 962
go: ENSG00000138768;
name:
General vesicular transport factor p115 (Protein USO1 homolog) (Transcytosis-associated protein) (TAP) (Vesicle-docking protein)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; fibrillar center [GO:0001650]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; transport vesicle [GO:0030133]; cadherin binding [GO:0045296]; protein transporter activity [GO:0008565]; RNA binding [GO:0003723]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; Golgi vesicle docking [GO:0048211]; intracellular protein transport [GO:0006886]; membrane fusion [GO:0061025]; transcytosis [GO:0045056]; vesicle fusion with Golgi apparatus [GO:0048280]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60763-1; Sequence=Displayed; Name=2; IsoId=O60763-2; Sequence=VSP_039120, VSP_039121; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19454686, ECO:0000269|PubMed:9478999}. Golgi apparatus membrane {ECO:0000269|PubMed:19454686, ECO:0000269|PubMed:9478999}; Peripheral membrane protein {ECO:0000269|PubMed:19454686, ECO:0000269|PubMed:9478999}. Note=Recycles between the cytosol and the Golgi apparatus during interphase. During interphase, the phosphorylated form is found exclusively in cytosol; the unphosphorylated form is associated with Golgi apparatus membranes. {ECO:0000269|PubMed:19454686, ECO:0000269|PubMed:9478999}.


uniprotID: Q969X6
geneSymbol: UTP4
reactome: R-HSA-6790901;R-HSA-6791226;
length: 686
go: ENSG00000141076;
snps: rs8056684 rs119465999
name:
U3 small nucleolar RNA-associated protein 4 homolog (Cirhin) (UTP4 small subunit processome component)

sequence:

opentargets:
90S preribosome [GO:0030686]; chromosome [GO:0005694]; fibrillar center [GO:0001650]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; small-subunit processome [GO:0032040]; t-UTP complex [GO:0034455]; RNA binding [GO:0003723]; maturation of SSU-rRNA [GO:0030490]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; regulation of transcription, DNA-templated [GO:0006355]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q969X6-1; Sequence=Displayed; Name=2; IsoId=Q969X6-2; Sequence=VSP_009201; Name=3; IsoId=Q969X6-3; Sequence=VSP_009202, VSP_009203; Note=May be due to intron retention.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:16225863, ECO:0000269|PubMed:24219289}. Chromosome {ECO:0000269|PubMed:20813266}. Note=Found predominantly at the fibrillar center. {ECO:0000269|PubMed:24219289}.


uniprotID: Q5T230
geneSymbol: UTF1
name: Undifferentiated embryonic cell transcription factor 1
length: 341
go: ENSG00000171794;
snps: rs11599284
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription coactivator activity [GO:0003713]; male gonad development [GO:0008584]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: O14607
geneSymbol: UTY
reactome: R-HSA-3214842;
pdb: 3ZLI;3ZPO;4UF0;5A1L;5FXV;5FXW;5FXX;5FXZ;5FY0;5FY1;5FY7;5FYM;
length: 1347
go: ENSG00000183878;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Histone demethylase UTY (EC 1.14.11.-) (Ubiquitously-transcribed TPR protein on the Y chromosome) (Ubiquitously-transcribed Y chromosome tetratricopeptide repeat protein)

sequence:

opentargets:
MLL3/4 complex [GO:0044666]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; dioxygenase activity [GO:0051213]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K27 specific) [GO:0071558]; metal ion binding [GO:0046872]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; regulation of gene expression [GO:0010468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Long; IsoId=O14607-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O14607-2; Sequence=VSP_006556, VSP_036783; Name=3; IsoId=O14607-3; Sequence=VSP_036784; Name=4; IsoId=O14607-4; Sequence=VSP_045611; Name=5; IsoId=O14607-5; Sequence=VSP_045611, VSP_045612, VSP_045613; 


uniprotID: Q9BY14
geneSymbol: TEX101
reactome: R-HSA-163125;
length: 249
go: ENSG00000131126;
snps: rs35033974 rs17849541
name:
Testis-expressed protein 101 (Cell surface receptor NYD-SP8) (Scleroderma-associated autoantigen) (Spermatogenesis-related gene protein)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; anchored component of plasma membrane [GO:0046658]; extracellular region [GO:0005576]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; binding of sperm to zona pellucida [GO:0007339]; fertilization [GO:0009566]; flagellated sperm motility [GO:0030317]; regulation of flagellated sperm motility [GO:1901317]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BY14-1; Sequence=Displayed; Name=2; IsoId=Q9BY14-2; Sequence=VSP_020029; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9JMI7}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q9JMI7}. Membrane raft {ECO:0000250|UniProtKB:Q9JMI7}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q9JMI7}. Secreted {ECO:0000250|UniProtKB:Q9JMI7}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:Q9JMI7}. Note=Located on plasma membrane of spermatocytes, round and elongated spermatids, and testicular spermatozoa. {ECO:0000250|UniProtKB:Q9JMI7}.


uniprotID: Q6PKC3
geneSymbol: TXNDC11
name: Thioredoxin domain-containing protein 11 (EF-hand-binding protein 1)
length: 985
go: ENSG00000153066;
snps: rs3190321
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; cell redox homeostasis [GO:0045454]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PKC3-1; Sequence=Displayed; Name=2; IsoId=Q6PKC3-2; Sequence=VSP_014335; Note=No experimental confirmation available.; Name=3; IsoId=Q6PKC3-3; Sequence=VSP_014336, VSP_014337; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: O95881
geneSymbol: TXNDC12
pdb: 1SEN;2K8V;
length: 172
go: ENSG00000117862;
drug: DB00143;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:12761212}.
name:
Thioredoxin domain-containing protein 12 (EC 1.8.4.2) (Endoplasmic reticulum resident protein 18) (ER protein 18) (ERp18) (Endoplasmic reticulum resident protein 19) (ER protein 19) (ERp19) (Thioredoxin-like protein p19) (hTLP19)

sequence:
METRPRLGATCLLGFSFLLLVISSDGHNGLGKGFGDHIHWRTLEDGKKEAAASGLPLMVIIHKSWCGACKALKPKFAESTEISELSHNFVMVNLEDEEEPKDEDFSPDGGYIPRILFLDPSGKVHPEIINENGNPSYKYFYVSAEQVVQGMKEAQERLTGDAFRKKHLEDEL

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; peptide disulfide oxidoreductase activity [GO:0015037]; protein-disulfide reductase (glutathione) activity [GO:0019153]; cell redox homeostasis [GO:0045454]; negative regulation of cell death [GO:0060548]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]


uniprotID: Q96J42
geneSymbol: TXNDC15
name: Thioredoxin domain-containing protein 15
length: 360
go: ENSG00000113621;
opentargets: cell [GO:0005623]; integral component of membrane [GO:0016021]; cell redox homeostasis [GO:0045454]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96J42-1; Sequence=Displayed; Name=2; IsoId=Q96J42-2; Sequence=VSP_027129; Note=No experimental confirmation available.; 


uniprotID: Q2TAA8
geneSymbol: TSNAXIP1
name: Translin-associated factor X-interacting protein 1 (Trax-interacting protein 1)
length: 658
go: ENSG00000102904;
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q99P25}.
sequence:

opentargets:
perinuclear region of cytoplasm [GO:0048471]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:15489334}; IsoId=Q2TAA8-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q2TAA8-2; Sequence=VSP_052710; Note=No experimental confirmation available.; 


uniprotID: P83876
geneSymbol: TXNL4A
reactome: R-HSA-72163;R-HSA-72165;
pdb: 1PQN;1QGV;1SYX;3JCR;4BWQ;4BWS;4CDO;5O9Z;
length: 142
go: ENSG00000141759;
name:
Thioredoxin-like protein 4A (DIM1 protein homolog) (Spliceosomal U5 snRNP-specific 15 kDa protein) (Thioredoxin-like U5 snRNP protein U5-15kD)

sequence:
MSYMLPHLHNGWQVDQAILSEEDRVVVIRFGHDWDPTCMKMDEVLYSIAEKVKNFAVIYLVDITEVPDFNKMYELYDPCTVMFFFRNKHIMIDLGTGNNNKINWAMEDKQEMVDIIETVYRGARKGRGLVVSPKDYSTKYRY

opentargets:
cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U5 snRNP [GO:0005682]; cell cycle [GO:0007049]; cell division [GO:0051301]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing, via transesterification reactions [GO:0000375]; spliceosomal complex assembly [GO:0000245]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10610776, ECO:0000269|PubMed:11054566, ECO:0000269|PubMed:20858735, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166}.


uniprotID: Q6A555
geneSymbol: TXNDC8
length: 127
go: ENSG00000204193;
snps: rs7041938
name:
Thioredoxin domain-containing protein 8 (Spermatid-specific thioredoxin-3) (Sptrx-3) (Thioredoxin-6)

sequence:
MVQIIKDTNEFKTFLTAAGHKLAVVQFSSKRCGPCKRMFPVFHAMSVKYQNVFFANVDVNNSPELAETCHIKTIPTFQMFKKSQKVTLFSRIKRIICCYRSGFMSNLIFEFCGADAKKLEAKTQELM

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; cell differentiation [GO:0030154]; cell redox homeostasis [GO:0045454]; glycerol ether metabolic process [GO:0006662]; multicellular organism development [GO:0007275]; oxidation-reduction process [GO:0055114]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6A555-1; Sequence=Displayed; Name=2; IsoId=Q6A555-2; Sequence=VSP_014333; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15181017}. Golgi apparatus {ECO:0000269|PubMed:15181017}.


uniprotID: O14530
geneSymbol: TXNDC9
length: 226
go: ENSG00000115514;
snps: rs11542369 rs11542371
name:
Thioredoxin domain-containing protein 9 (ATP-binding protein associated with cell differentiation) (Protein 1-4)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; midbody [GO:0030496]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; cell redox homeostasis [GO:0045454]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14530-1; Sequence=Displayed; Name=2; IsoId=O14530-2; Sequence=VSP_056553; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9CQ79}. Nucleus {ECO:0000250|UniProtKB:Q9CQ79}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q9CQ79}. Midbody {ECO:0000250|UniProtKB:Q9CQ79}. Note=Co-localizes with beta-tubulin in the centrosome. {ECO:0000250|UniProtKB:Q9CQ79}.


uniprotID: O14604
geneSymbol: TMSB4Y
name: Thymosin beta-4, Y-chromosomal
sequence: MSDKPGMAEIEKFDKSKLKKTETQEKNPLSSKETIEQERQAGES
length: 44
go: ENSG00000154620;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; actin monomer binding [GO:0003785]; actin filament organization [GO:0007015]; regulation of actin polymerization or depolymerization [GO:0008064]; regulation of cell migration [GO:0030334]; sequestering of actin monomers [GO:0042989]


uniprotID: P62328
geneSymbol: TMSB4X
reactome: R-HSA-114608;
pdb: 1UY5;3TU5;4PL7;4PL8;
sequence: MSDKPDMAEIEKFDKSKLKKTETQEKNPLPSKETIEQEKQAGES
length: 44
go: ENSG00000205542;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
name:
Thymosin beta-4 (T beta-4) (Fx) [Cleaved into: Hematopoietic system regulatory peptide (Seraspenide)]

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular region [GO:0005576]; intracellular [GO:0005622]; nucleus [GO:0005634]; platelet alpha granule lumen [GO:0031093]; actin monomer binding [GO:0003785]; enzyme binding [GO:0019899]; RNA binding [GO:0003723]; actin filament organization [GO:0007015]; cytoplasmic sequestering of NF-kappaB [GO:0007253]; negative regulation of interleukin-8 secretion [GO:2000483]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding [GO:1903026]; platelet degranulation [GO:0002576]; positive regulation of ATP biosynthetic process [GO:2001171]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of endothelial cell chemotaxis [GO:2001028]; positive regulation of proton-transporting ATP synthase activity, rotational mechanism [GO:1905273]; regulation of cell migration [GO:0030334]; regulation of inflammatory response [GO:0050727]; regulation of NIK/NF-kappaB signaling [GO:1901222]; sequestering of actin monomers [GO:0042989]; tumor necrosis factor-mediated signaling pathway [GO:0033209]


uniprotID: Q9NUW8
geneSymbol: TDP1
reactome: R-HSA-5693571;
pdb: 1JY1;1MU7;1MU9;1NOP;1QZQ;1RFF;1RFI;1RG1;1RG2;1RGT;1RGU;1RH0;5NW9;5NWA;
name: Tyrosyl-DNA phosphodiesterase 1 (Tyr-DNA phosphodiesterase 1) (EC 3.1.4.-)
length: 608
go: ENSG00000042088;
snps: rs35114462 rs35455108 rs28365054 rs35271143 rs34452707 rs119467003 rs767298655 rs35973343
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; 3'-tyrosyl-DNA phosphodiesterase activity [GO:0017005]; double-stranded DNA binding [GO:0003690]; exonuclease activity [GO:0004527]; single-stranded DNA binding [GO:0003697]; DNA repair [GO:0006281]; double-strand break repair [GO:0006302]; single strand break repair [GO:0000012]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NUW8-1; Sequence=Displayed; Name=2; IsoId=Q9NUW8-2; Sequence=VSP_055765, VSP_055766; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15647511}. Cytoplasm {ECO:0000269|PubMed:15647511}.


uniprotID: O43914
geneSymbol: TYROBP
reactome: R-HSA-198933;R-HSA-2172127;R-HSA-2424491;R-HSA-391160;R-HSA-416700;R-HSA-6798695;
pdb: 2L34;2L35;4WO1;4WOL;
length: 113
go: ENSG00000011600;
snps: rs14714
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
TYRO protein tyrosine kinase-binding protein (DNAX-activation protein 12) (Killer-activating receptor-associated protein) (KAR-associated protein)

sequence:
MGGLEPCSRLLLLPLLLAVSGLRPVQAQAQSDCSCSTVSPGVLAGIVMGDLVLTVLIALAVYFLGRLVPRGRGAAEAATRKQRITETESPYQELQGQRSDVYSDLNTQRPYYK

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; identical protein binding [GO:0042802]; signaling receptor binding [GO:0005102]; cellular defense response [GO:0006968]; innate immune response [GO:0045087]; integrin-mediated signaling pathway [GO:0007229]; intracellular signal transduction [GO:0035556]; macrophage activation involved in immune response [GO:0002281]; neutrophil degranulation [GO:0043312]; osteoclast differentiation [GO:0030316]; regulation of immune response [GO:0050776]; regulation of osteoclast development [GO:2001204]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=KARAP-a; IsoId=O43914-1; Sequence=Displayed; Name=2; Synonyms=KARAP-b; IsoId=O43914-2; Sequence=VSP_012909; Name=3; IsoId=O43914-3; Sequence=VSP_046066; Note=No experimental confirmation available.; 


uniprotID: Q2T9J0
geneSymbol: TYSND1
reactome: R-HSA-9033241;R-HSA-9033500;
length: 566
go: ENSG00000156521;
snps: rs4746970
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:22002062}.
name:
Peroxisomal leader peptide-processing protease (EC 3.4.21.-) (Trypsin domain-containing protein 1) [Cleaved into: Peroxisomal leader peptide-processing protease, 15 kDa form; Peroxisomal leader peptide-processing protease, 45 kDa form]

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; identical protein binding [GO:0042802]; protease binding [GO:0002020]; serine-type endopeptidase activity [GO:0004252]; protein homooligomerization [GO:0051260]; protein processing [GO:0016485]; protein targeting to peroxisome [GO:0006625]; proteolysis [GO:0006508]; regulation of fatty acid beta-oxidation [GO:0031998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2T9J0-1; Sequence=Displayed; Name=2; IsoId=Q2T9J0-2; Sequence=VSP_025000, VSP_025001; Note=No experimental confirmation available.; 


uniprotID: Q6IPR3
geneSymbol: TYW3
reactome: R-HSA-6782861;
length: 259
go: ENSG00000162623;
snps: rs11538281 rs1133891
name:
tRNA wybutosine-synthesizing protein 3 homolog (tRNA-yW-synthesizing protein 3) (EC 2.1.1.282) (tRNA(Phe) 7-((3-amino-3-carboxypropyl)-4-demethylwyosine(37)-N(4))-methyltransferase)

sequence:

opentargets:
cytoplasm [GO:0005737]; tRNA methyltransferase activity [GO:0008175]; tRNA methylation [GO:0030488]; wybutosine biosynthetic process [GO:0031591]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IPR3-1; Sequence=Displayed; Name=2; IsoId=Q6IPR3-2; Sequence=VSP_044477; Note=No experimental confirmation available.; 


uniprotID: Q16560
geneSymbol: SNRNP35
reactome: R-HSA-72165;
length: 246
go: ENSG00000184209;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15146077}.
name:
U11/U12 small nuclear ribonucleoprotein 35 kDa protein (U11/U12 snRNP 35 kDa protein) (U11/U12-35K) (Protein HM-1) (U1 snRNP-binding protein homolog)

sequence:

opentargets:
commitment complex [GO:0000243]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U12-type spliceosomal complex [GO:0005689]; mRNA binding [GO:0003729]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16560-1; Sequence=Displayed; Name=2; IsoId=Q16560-2; Sequence=VSP_028855; 


uniprotID: P26368
geneSymbol: U2AF2
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72187;
length: 475
go: ENSG00000063244;
location: SUBCELLULAR LOCATION: Nucleus.
pdb:
1JMT;1O0P;1OPI;1U2F;2G4B;2HZC;2M0G;2U2F;2YH0;2YH1;3VAF;3VAG;3VAH;3VAI;3VAJ;3VAK;3VAL;3VAM;4FXW;4TU7;4TU8;4TU9;5EV1;5EV2;5EV3;5EV4;5W0G;5W0H;

name:
Splicing factor U2AF 65 kDa subunit (U2 auxiliary factor 65 kDa subunit) (hU2AF(65)) (hU2AF65) (U2 snRNP auxiliary factor large subunit)

sequence:

opentargets:
commitment complex [GO:0000243]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U2-type prespliceosome [GO:0071004]; U2AF [GO:0089701]; C2H2 zinc finger domain binding [GO:0070742]; enzyme binding [GO:0019899]; poly-pyrimidine tract binding [GO:0008187]; pre-mRNA 3'-splice site binding [GO:0030628]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; negative regulation of protein ubiquitination [GO:0031397]; positive regulation of RNA splicing [GO:0033120]; RNA export from nucleus [GO:0006405]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P26368-1; Sequence=Displayed; Name=2; IsoId=P26368-2; Sequence=VSP_035414; 


uniprotID: A1L167
geneSymbol: UBE2QL1
length: 161
go: ENSG00000215218;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24000165}.
name:
Ubiquitin-conjugating enzyme E2Q-like protein 1 (EC 2.3.2.23) (E2Q-like ubiquitin-conjugating enzyme 1)

sequence:
MKELQDIARLSDRFISVELVDESLFDWNVKLHQVDKDSVLWQDMKETNTEFILLNLTFPDNFPFSPPFMRVLSPRLENGYVLDGGAICMELLTPRGWSSAYTVEAVMRQFAASLVKGQGRICRKAGKSKKSFSRKEAEATFKSLVKTHEKYGWVTPPVSDG

opentargets:
nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ubiquitin conjugating enzyme activity [GO:0061631]


uniprotID: Q8WU68
geneSymbol: U2AF1L4
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72187;
length: 220
go: ENSG00000161265;
name:
Splicing factor U2AF 26 kDa subunit (U2 auxiliary factor 26) (U2 small nuclear RNA auxiliary factor 1-like protein 4) (U2AF1-like 4) (U2(RNU2) small nuclear RNA auxiliary factor 1-like protein 3) (U2 small nuclear RNA auxiliary factor 1-like protein 3) (U2AF1-like protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; spliceosomal complex [GO:0005681]; U2AF [GO:0089701]; metal ion binding [GO:0046872]; pre-mRNA 3'-splice site binding [GO:0030628]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; RNA export from nucleus [GO:0006405]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WU68-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8WU68-2; Sequence=VSP_029264, VSP_029265; Name=3; IsoId=Q8WU68-3; Sequence=VSP_029264; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8BGJ9}. Nucleus speckle {ECO:0000250|UniProtKB:Q8BGJ9}. Cytoplasm {ECO:0000250|UniProtKB:Q8BGJ9}. Note=Interaction with C1QBP is required for the nuclear translocation. Displays active nucleo-cytoplasmic shuttling. {ECO:0000250|UniProtKB:Q8BGJ9}.


uniprotID: Q6R6M4
geneSymbol: USP17L2
reactome: R-HSA-5689880;
length: 530
go: ENSG00000223443;
snps: rs12543578
name:
Ubiquitin carboxyl-terminal hydrolase 17 (USP17) (EC 3.4.19.12) (Deubiquitinating enzyme 17-like protein 2) (Deubiquitinating protein 3) (DUB-3) (Ubiquitin carboxyl-terminal hydrolase 17-like protein 2) (Ubiquitin thioesterase 17-like protein 2) (Ubiquitin-specific-processing protease 17-like protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; apoptotic process [GO:0006915]; CAAX-box protein processing [GO:0071586]; mitotic cell cycle checkpoint [GO:0007093]; negative regulation of GTPase activity [GO:0034260]; negative regulation of histone deacetylation [GO:0031064]; negative regulation of protein processing [GO:0010955]; negative regulation of protein targeting to membrane [GO:0090315]; positive regulation of GTPase activity [GO:0043547]; positive regulation of MDA-5 signaling pathway [GO:1900245]; positive regulation of RIG-I signaling pathway [GO:1900246]; protein deubiquitination [GO:0016579]; protein K48-linked deubiquitination [GO:0071108]; protein K63-linked deubiquitination [GO:0070536]; regulation of apoptotic process [GO:0042981]; regulation of cell migration [GO:0030334]; regulation of cell proliferation [GO:0042127]; regulation of defense response to virus by host [GO:0050691]; regulation of ruffle assembly [GO:1900027]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21239494}. Endoplasmic reticulum {ECO:0000269|PubMed:19188362}.


uniprotID: D6R901
geneSymbol: USP17L21
reactome: R-HSA-5689880;
name: Ubiquitin carboxyl-terminal hydrolase 17-like protein 21 (EC 3.4.19.12)
length: 530
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
sequence:


uniprotID: O14933
geneSymbol: UBE2L6
reactome: R-HSA-1169408;R-HSA-168928;R-HSA-5656169;R-HSA-936440;R-HSA-977225;R-HSA-983168;
pdb: 1WZV;1WZW;2KJH;
length: 153
go: ENSG00000156587;
name:
Ubiquitin/ISG15-conjugating enzyme E2 L6 (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme L6) (Retinoic acid-induced gene B protein) (RIG-B) (UbcH8) (Ubiquitin carrier protein L6) (Ubiquitin-protein ligase L6)

sequence:
MMASMRVVKELEDLQKKPPPYLRNLSSDDANVLVWHALLLPDQPPYHLKAFNLRISFPPEYPFKPPMIKFTTKIYHPNVDENGQICLPIISSENWKPCTKTCQVLEALNVLVNRPNIREPLRMDLADLLTQNPELFRKNAEEFTLRFGVDRPS

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; ubiquitin ligase complex [GO:0000151]; ISG15 transferase activity [GO:0042296]; ubiquitin binding [GO:0043130]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; cellular protein metabolic process [GO:0044267]; cellular protein modification process [GO:0006464]; ISG15-protein conjugation [GO:0032020]; negative regulation of type I interferon production [GO:0032480]; translesion synthesis [GO:0019985]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14933-1; Sequence=Displayed; Name=2; IsoId=O14933-2; Sequence=VSP_037344; 


uniprotID: P62837
geneSymbol: UBE2D2
length: 147
go: ENSG00000131508;
reactome:
R-HSA-1234176;R-HSA-168927;R-HSA-202424;R-HSA-2871837;R-HSA-5607764;R-HSA-8866652;R-HSA-8866654;R-HSA-8951664;R-HSA-9033241;R-HSA-936440;R-HSA-937041;R-HSA-983168;

pdb:
1UR6;1W4U;2CLW;2ESK;2ESO;2ESP;2ESQ;3A33;3JVZ;3JW0;3L1Y;3TGD;3ZNI;4A49;4A4B;4A4C;4AUQ;4DDG;4DDI;4LDT;4V3K;4V3L;4WZ3;5D0K;5D0M;5D1K;5D1L;5D1M;5EDV;5MNJ;5ULF;5ULH;5ULK;5VZW;

name:
Ubiquitin-conjugating enzyme E2 D2 (EC 2.3.2.23) ((E3-independent) E2 ubiquitin-conjugating enzyme D2) (EC 2.3.2.24) (E2 ubiquitin-conjugating enzyme D2) (Ubiquitin carrier protein D2) (Ubiquitin-conjugating enzyme E2(17)KB 2) (Ubiquitin-conjugating enzyme E2-17 kDa 2) (Ubiquitin-protein ligase D2) (p53-regulated ubiquitin-conjugating enzyme 1)

sequence:
MALKRIHKELNDLARDPPAQCSAGPVGDDMFHWQATIMGPNDSPYQGGVFFLTIHFPTDYPFKPPKVAFTTRIYHPNINSNGSICLDILRSQWSPALTISKVLLSICSLLCDPNPDDPLVPEIARIYKTDREKYNRIAREWTQKYAM

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; ubiquitin ligase complex [GO:0000151]; ATP binding [GO:0005524]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; cellular protein modification process [GO:0006464]; protein autoubiquitination [GO:0051865]; protein K11-linked ubiquitination [GO:0070979]; protein K48-linked ubiquitination [GO:0070936]; protein polyubiquitination [GO:0000209]; protein targeting to peroxisome [GO:0006625]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P62837-1; Sequence=Displayed; Name=2; IsoId=P62837-2; Sequence=VSP_045180; Note=No experimental confirmation available.; 


uniprotID: Q86T82
geneSymbol: USP37
reactome: R-HSA-5689880;
pdb: 3U12;
length: 979
go: ENSG00000135913;
snps: rs6436058
name:
Ubiquitin carboxyl-terminal hydrolase 37 (EC 3.4.19.12) (Deubiquitinating enzyme 37) (Ubiquitin thioesterase 37) (Ubiquitin-specific-processing protease 37)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; protein kinase binding [GO:0019901]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; cell division [GO:0051301]; G1/S transition of mitotic cell cycle [GO:0000082]; protein deubiquitination [GO:0016579]; protein K11-linked deubiquitination [GO:0035871]; protein K48-linked deubiquitination [GO:0071108]; regulation of DNA replication [GO:0006275]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86T82-1; Sequence=Displayed; Name=2; IsoId=Q86T82-2; Sequence=VSP_041740, VSP_041741; 


uniprotID: Q93009
geneSymbol: USP7
length: 1102
go: ENSG00000187555;
reactome:
R-HSA-5689880;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-6804757;R-HSA-8866652;R-HSA-8948747;

pdb:
1NB8;1NBF;1YY6;1YZE;2F1W;2F1X;2F1Y;2F1Z;2FOJ;2FOO;2FOP;2KVR;2XXN;2YLM;3MQR;3MQS;4JJQ;4KG9;4M5W;4M5X;4PYZ;4WPH;4WPI;4YOC;4YSI;4Z96;4Z97;5C56;5C6D;5FWI;5GG4;5J7T;5JTJ;5JTV;5KYB;5KYC;5KYD;5KYE;5KYF;5N9R;5N9T;5NGE;5NGF;5UQV;5UQX;5VS6;5VSB;5VSK;5WHC;6F5H;

name:
Ubiquitin carboxyl-terminal hydrolase 7 (EC 3.4.19.12) (Deubiquitinating enzyme 7) (Herpesvirus-associated ubiquitin-specific protease) (Ubiquitin thioesterase 7) (Ubiquitin-specific-processing protease 7)

sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; protein-containing complex [GO:0032991]; cysteine-type endopeptidase activity [GO:0004197]; Lys48-specific deubiquitinase activity [GO:1990380]; p53 binding [GO:0002039]; protein C-terminus binding [GO:0008022]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; ubiquitinyl hydrolase activity [GO:0101005]; histone H2B conserved C-terminal lysine deubiquitination [GO:0035616]; maintenance of DNA methylation [GO:0010216]; monoubiquitinated protein deubiquitination [GO:0035520]; multicellular organism development [GO:0007275]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; positive regulation of DNA demethylation [GO:1901537]; protein deubiquitination [GO:0016579]; protein stabilization [GO:0050821]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of protein stability [GO:0031647]; regulation of telomere capping [GO:1904353]; transcription-coupled nucleotide-excision repair [GO:0006283]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q93009-1; Sequence=Displayed; Name=2; Synonyms=USP7 beta; IsoId=Q93009-2; Sequence=Not described; Note=No experimental confirmation available.; Name=3; IsoId=Q93009-3; Sequence=VSP_054884; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23973222, ECO:0000269|PubMed:25283148, ECO:0000269|PubMed:26678539}. Cytoplasm {ECO:0000269|PubMed:25283148}. Nucleus, PML body {ECO:0000269|PubMed:9034339}. Chromosome {ECO:0000269|PubMed:20601937}. Note=Present in a minority of ND10 nuclear bodies. Association with ICP0/VMW110 at early times of infection leads to an increased proportion of USP7-containing ND10. Colocalizes with ATXN1 in the nucleus. Colocalized with DAXX in speckled structures. Colocalized with PML and PTEN in promyelocytic leukemia protein (PML) nuclear bodies.


uniprotID: Q9H9J4
geneSymbol: USP42
reactome: R-HSA-5689880;
length: 1324
go: ENSG00000106346;
snps: rs6463529
name:
Ubiquitin carboxyl-terminal hydrolase 42 (EC 3.4.19.12) (Deubiquitinating enzyme 42) (Ubiquitin thioesterase 42) (Ubiquitin-specific-processing protease 42)

sequence:

opentargets:
nucleoplasm [GO:0005654]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; cell differentiation [GO:0030154]; protein deubiquitination [GO:0016579]; regulation of apoptotic process [GO:0042981]; spermatogenesis [GO:0007283]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H9J4-1; Sequence=Displayed; Name=2; IsoId=Q9H9J4-2; Sequence=VSP_040529; 


uniprotID: Q9BXU7
geneSymbol: USP26
reactome: R-HSA-5689880;
length: 913
go: ENSG00000134588;
snps: rs61741870 rs35397110 rs41299088 rs138385391
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20501646}.
name:
Ubiquitin carboxyl-terminal hydrolase 26 (EC 3.4.19.12) (Deubiquitinating enzyme 26) (Ubiquitin thioesterase 26) (Ubiquitin-specific-processing protease 26)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; G1/S transition of mitotic cell cycle [GO:0000082]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q9HBJ7
geneSymbol: USP29
length: 922
go: ENSG00000131864;
snps: rs1027392 rs3795003
name:
Ubiquitin carboxyl-terminal hydrolase 29 (EC 3.4.19.12) (Deubiquitinating enzyme 29) (Ubiquitin thioesterase 29) (Ubiquitin-specific-processing protease 29)

sequence:

opentargets:
nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; G1/S transition of mitotic cell cycle [GO:0000082]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q8WUN7
geneSymbol: UBTD2
pdb: 1TTN;2KSN;
length: 234
go: ENSG00000168246;
opentargets: cytoplasm [GO:0005737]
snps: rs17074452
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12507522}.
name:
Ubiquitin domain-containing protein 2 (Dendritic cell-derived ubiquitin-like protein) (DC-UbP) (Ubiquitin-like protein SB72)

sequence:


uniprotID: Q5T124
geneSymbol: UBXN11
length: 520
go: ENSG00000158062;
snps: rs6695966 rs4332350 rs1134584
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
name:
UBX domain-containing protein 11 (Colorectal tumor-associated antigen COA-1) (Socius) (UBX domain-containing protein 5)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; ubiquitin binding [GO:0043130]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q5T124-1; Sequence=Displayed; Name=2; IsoId=Q5T124-2; Sequence=VSP_024774; Name=3; IsoId=Q5T124-3; Sequence=VSP_024775; Name=4; IsoId=Q5T124-4; Sequence=VSP_024773; Note=No experimental confirmation available.; Name=5; IsoId=Q5T124-5; Sequence=VSP_024771; Name=6; IsoId=Q5T124-6; Sequence=VSP_024776, VSP_024777; Name=7; IsoId=Q5T124-7; Sequence=VSP_024774, VSP_024776, VSP_024777; Name=8; IsoId=Q5T124-8; Sequence=VSP_024772; 


uniprotID: Q04323
geneSymbol: UBXN1
reactome: R-HSA-532668;
name: UBX domain-containing protein 1 (SAPK substrate protein 1) (UBA/UBX 33.3 kDa protein)
length: 297
go: ENSG00000162191;
snps: rs11543359
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23545497}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; VCP-NPL4-UFD1 AAA ATPase complex [GO:0034098]; ATPase binding [GO:0051117]; K48-linked polyubiquitin modification-dependent protein binding [GO:0036435]; K6-linked polyubiquitin modification-dependent protein binding [GO:0071796]; polyubiquitin modification-dependent protein binding [GO:0031593]; proteasome regulatory particle binding [GO:1904855]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase binding [GO:0031625]; negative regulation of ERAD pathway [GO:1904293]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of protein K48-linked deubiquitination [GO:1903094]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of ubiquitin-specific protease activity [GO:2000157]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein folding [GO:0006457]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q04323-1; Sequence=Displayed; Name=2; IsoId=Q04323-2; Sequence=VSP_020367; Note=No experimental confirmation available.; 


uniprotID: Q9UHD9
geneSymbol: UBQLN2
reactome: R-HSA-8856825;
pdb: 1J8C;2NBV;
length: 624
go: ENSG00000188021;
name:
Ubiquilin-2 (Chap1) (DSK2 homolog) (Protein linking IAP with cytoskeleton 2) (PLIC-2) (hPLIC-2) (Ubiquitin-like product Chap1/Dsk2)

sequence:

opentargets:
autophagosome [GO:0005776]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; autophagy [GO:0006914]; negative regulation of clathrin-dependent endocytosis [GO:1900186]; negative regulation of G protein-coupled receptor internalization [GO:1904021]; positive regulation of ER-associated ubiquitin-dependent protein catabolic process [GO:1903071]; regulation of autophagosome assembly [GO:2000785]; regulation of macroautophagy [GO:0016241]; ubiquitin-dependent ERAD pathway [GO:0030433]

snps:
rs374522677 rs1490021329 rs17002693 rs1001930696 rs749463696 rs1243726473 rs387906709 rs387906710 rs387906711 rs387906712 rs369947678 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18199683}. Nucleus {ECO:0000269|PubMed:9853615}. Membrane {ECO:0000250|UniProtKB:Q9QZM0}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:19148225}. Note=Colocalizes with a subset of proteasomes, namely those that are cytoskeleton associated or free in the cytosol. Associated with fibers in mitotic cells. {ECO:0000269|PubMed:10983987}.


uniprotID: Q70CQ3
geneSymbol: USP30
reactome: R-HSA-5689880;
pdb: 5OHK;5OHN;5OHP;
length: 517
go: ENSG00000135093;
snps: rs16939904
name:
Ubiquitin carboxyl-terminal hydrolase 30 (EC 3.4.19.12) (Deubiquitinating enzyme 30) (Ubiquitin thioesterase 30) (Ubiquitin-specific-processing protease 30) (Ub-specific protease 30)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; autophagy of mitochondrion [GO:0000422]; mitochondrial fusion [GO:0008053]; negative regulation of mitophagy [GO:1901525]; protein deubiquitination [GO:0016579]; protein K11-linked deubiquitination [GO:0035871]; protein K6-linked deubiquitination [GO:0044313]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:18287522, ECO:0000269|PubMed:24896179}.


uniprotID: O94888
geneSymbol: UBXN7
reactome: R-HSA-8951664;
pdb: 1WJ4;2DAL;2DLX;5X3P;5X4L;
name: UBX domain-containing protein 7
length: 489
go: ENSG00000163960;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22537386}.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; VCP-NPL4-UFD1 AAA ATPase complex [GO:0034098]; transcription factor binding [GO:0008134]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase binding [GO:0031625]; post-translational protein modification [GO:0043687]


uniprotID: Q969E3
geneSymbol: UCN3
reactome: R-HSA-373080;
pdb: 2RMH;3N93;
name: Urocortin-3 (Stresscopin) (Urocortin III) (Ucn III)
length: 161
go: ENSG00000178473;
snps: rs12768730 rs10904481
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MLMPVHFLLLLLLLLGGPRTGLPHKFYKAKPIFSCLNTALSEAEKGQWEDASLLSKRSFHYLRSRDASSGEEEEGKEKKTFPISGARGGARGTRYRYVSQAQPRGKPRQDTAKSPHRTKFTLSLDVPTNIMNLLFNIAKAKNLRAQAAANAHLMAQIGRKK

opentargets:
axon terminus [GO:0043679]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; varicosity [GO:0043196]; corticotropin-releasing hormone receptor 2 binding [GO:0051431]; corticotropin-releasing hormone receptor binding [GO:0051429]; G protein-coupled receptor binding [GO:0001664]; hormone activity [GO:0005179]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cellular response to hypoxia [GO:0071456]; cellular response to nutrient levels [GO:0031669]; digestion [GO:0007586]; hormone-mediated signaling pathway [GO:0009755]; positive regulation of insulin secretion [GO:0032024]; positive regulation of membrane potential [GO:0045838]; response to corticosterone [GO:0051412]; response to glucose [GO:0009749]; response to immobilization stress [GO:0035902]; response to starvation [GO:0042594]


uniprotID: P19224
geneSymbol: UGT1A6
reactome: R-HSA-156588;
length: 532
go: ENSG00000167165;
drug: DB00316;DB08826;DB00688;DB01024;DB00818;DB00197;DB00313;
snps: rs6759892 rs1042708 rs2070959 rs1105879 rs1042709
name:
UDP-glucuronosyltransferase 1-6 (UDPGT 1-6) (UGT1*6) (UGT1-06) (UGT1.6) (EC 2.4.1.17) (Phenol-metabolizing UDP-glucuronosyltransferase) (UDP-glucuronosyltransferase 1-F) (UGT-1F) (UGT1F) (UDP-glucuronosyltransferase 1A6)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; enzyme binding [GO:0019899]; glucuronosyltransferase activity [GO:0015020]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; UDP-glycosyltransferase activity [GO:0008194]; cellular glucuronidation [GO:0052695]; flavonoid glucuronidation [GO:0052696]; negative regulation of cellular glucuronidation [GO:2001030]; negative regulation of fatty acid metabolic process [GO:0045922]; negative regulation of glucuronosyltransferase activity [GO:1904224]; xenobiotic glucuronidation [GO:0052697]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=i1; IsoId=P19224-1; Sequence=Displayed; Name=2; IsoId=P19224-2; Sequence=VSP_045779; Note=No experimental confirmation available.; Name=3; Synonyms=i2, UGT1A6s; IsoId=P19224-3; Sequence=VSP_053962; 

location:
SUBCELLULAR LOCATION: Microsome. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q9HAW9
geneSymbol: UGT1A8
reactome: R-HSA-156588;
length: 530
go: ENSG00000242366;
drug: DB00861;DB00295;DB00688;DB00818;DB00197;DB00313;
snps: rs45504099 rs17862841 rs1042597 rs1042597 rs1126803 rs72551325 rs17863762
name:
UDP-glucuronosyltransferase 1-8 (UDPGT 1-8) (UGT1*8) (UGT1-08) (UGT1.8) (EC 2.4.1.17) (UDP-glucuronosyltransferase 1-H) (UGT-1H) (UGT1H) (UDP-glucuronosyltransferase 1A8)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; drug binding [GO:0008144]; enzyme binding [GO:0019899]; enzyme inhibitor activity [GO:0004857]; fatty acid binding [GO:0005504]; glucuronosyltransferase activity [GO:0015020]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; retinoic acid binding [GO:0001972]; steroid binding [GO:0005496]; UDP-glycosyltransferase activity [GO:0008194]; cellular glucuronidation [GO:0052695]; coumarin metabolic process [GO:0009804]; drug metabolic process [GO:0017144]; fatty acid metabolic process [GO:0006631]; flavone metabolic process [GO:0051552]; flavonoid glucuronidation [GO:0052696]; negative regulation of cellular glucuronidation [GO:2001030]; negative regulation of fatty acid metabolic process [GO:0045922]; negative regulation of glucuronosyltransferase activity [GO:1904224]; negative regulation of steroid metabolic process [GO:0045939]; retinoic acid metabolic process [GO:0042573]; steroid metabolic process [GO:0008202]; xenobiotic glucuronidation [GO:0052697]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=i1; IsoId=Q9HAW9-1; Sequence=Displayed; Name=2; Synonyms=i2, UGT1A8s; IsoId=Q9HAW9-2; Sequence=VSP_053964; 


uniprotID: O60656
geneSymbol: UGT1A9
reactome: R-HSA-156588;R-HSA-1989781;
length: 530
go: ENSG00000241119;
snps: rs72551330
name:
UDP-glucuronosyltransferase 1-9 (UDPGT 1-9) (UGT1*9) (UGT1-09) (UGT1.9) (EC 2.4.1.17) (UDP-glucuronosyltransferase 1-I) (UGT-1I) (UGT1I) (UDP-glucuronosyltransferase 1A9) (lugP4)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; enzyme binding [GO:0019899]; enzyme inhibitor activity [GO:0004857]; glucuronosyltransferase activity [GO:0015020]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; retinoic acid binding [GO:0001972]; UDP-glycosyltransferase activity [GO:0008194]; cellular glucuronidation [GO:0052695]; flavone metabolic process [GO:0051552]; flavonoid glucuronidation [GO:0052696]; negative regulation of cellular glucuronidation [GO:2001030]; negative regulation of fatty acid metabolic process [GO:0045922]; negative regulation of glucuronosyltransferase activity [GO:1904224]; regulation of lipid metabolic process [GO:0019216]; retinoic acid metabolic process [GO:0042573]; xenobiotic glucuronidation [GO:0052697]; xenobiotic metabolic process [GO:0006805]

drug:
DB00316;DB06403;DB00921;DB08907;DB06695;DB06292;DB00494;DB00749;DB04953;DB00712;DB06741;DB00502;DB00062;DB00327;DB01050;DB00328;DB00762;DB06738;DB01283;DB00688;DB01024;DB00731;DB04552;DB00842;DB04824;DB00818;DB08896;DB00398;DB01015;DB06204;DB00197;DB00580;DB00313;DB00744;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=i1; IsoId=O60656-1; Sequence=Displayed; Name=2; Synonyms=i2, UGT1A9s; IsoId=O60656-2; Sequence=VSP_053965; 


