# annotation

uniprotID: Q9UN76
geneSymbol: SLC6A14
reactome: R-HSA-352230;R-HSA-442660;R-HSA-5619094;
length: 642
go: ENSG00000268104;
drug: DB03929;DB00172;DB00577;DB01610;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) (Amino acid transporter ATB0+) (Solute carrier family 6 member 14)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; amino acid transmembrane transporter activity [GO:0015171]; neurotransmitter:sodium symporter activity [GO:0005328]; amino acid transport [GO:0006865]; cellular amino acid metabolic process [GO:0006520]; response to toxic substance [GO:0009636]


uniprotID: Q9H2J7
geneSymbol: SLC6A15
reactome: R-HSA-352230;R-HSA-442660;
length: 730
go: ENSG00000072041;
snps: rs12424429 rs3782369
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Sodium-dependent neutral amino acid transporter B(0)AT2 (Sodium- and chloride-dependent neurotransmitter transporter NTT73) (Sodium-coupled branched-chain amino-acid transporter 1) (Solute carrier family 6 member 15) (Transporter v7-3)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; neurotransmitter transporter activity [GO:0005326]; neurotransmitter:sodium symporter activity [GO:0005328]; proline:sodium symporter activity [GO:0005298]; amino acid transport [GO:0006865]; leucine transport [GO:0015820]; neurotransmitter transport [GO:0006836]; neutral amino acid transport [GO:0015804]; proline transport [GO:0015824]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H2J7-1; Sequence=Displayed; Name=2; IsoId=Q9H2J7-2; Sequence=VSP_043030, VSP_043031; Note=No experimental confirmation available.; Name=3; IsoId=Q9H2J7-3; Sequence=VSP_045192; Note=No experimental confirmation available.; 


uniprotID: Q9GZN6
geneSymbol: SLC6A16
length: 736
go: ENSG00000063127;
snps: rs35860981
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 (Solute carrier family 6 member 16)

sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; neurotransmitter transporter activity [GO:0005326]; neurotransmitter:sodium symporter activity [GO:0005328]; neurotransmitter transport [GO:0006836]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZN6-1; Sequence=Displayed; Name=2; IsoId=Q9GZN6-2; Sequence=VSP_056317; Note=No experimental confirmation available.; 


uniprotID: Q8N1H7
geneSymbol: SIX6OS1
name: Protein SIX6OS1 (Six6 opposite strand transcript 1)
length: 587
go: ENSG00000179008;
snps: rs1956551 rs1033734 rs11625921
sequence:

opentargets:
central element [GO:0000801]; meiotic DNA double-strand break processing involved in reciprocal meiotic recombination [GO:0010705]; multicellular organism development [GO:0007275]; oogenesis [GO:0048477]; regulation of DNA-binding transcription factor activity [GO:0051090]; spermatogenesis [GO:0007283]; synapsis [GO:0007129]

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q9CTN5}. Note=Component of the central element of the synaptonemal complex. In spermatocytes, detected from zygonema to pachynema and localizes along synapsed lateral elements. Loading to the central element of the synaptonemal complex is dependent on the assembly of the tripartite synaptonemal complex structure that occurs upon synapsis between homologous chromosomes. {ECO:0000250|UniProtKB:Q9CTN5}.


uniprotID: Q9NTJ5
geneSymbol: SACM1L
reactome: R-HSA-1483248;R-HSA-1660514;
name: Phosphatidylinositide phosphatase SAC1 (EC 3.1.3.-) (Suppressor of actin mutations 1-like protein)
length: 587
go: ENSG00000211456;
snps: rs1468542
sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of endoplasmic reticulum membrane [GO:0030176]; phosphatase activity [GO:0016791]; phosphatidylinositol bisphosphate phosphatase activity [GO:0034593]; phosphatidylinositol phosphate 4-phosphatase activity [GO:0034596]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; phosphatidylinositol-4-phosphate phosphatase activity [GO:0043812]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NTJ5-1; Sequence=Displayed; Name=2; IsoId=Q9NTJ5-2; Sequence=VSP_056068, VSP_056069; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9ES21}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9ES21}.


uniprotID: Q9NZJ4
geneSymbol: SACS
pdb: 1IUR;3O10;5V44;5V45;5V46;5VSX;5VSZ;
name: Sacsin (DnaJ homolog subfamily C member 29) (DNAJC29)
length: 4579
go: ENSG00000151835;
sequence:

opentargets:
axon [GO:0030424]; cell body fiber [GO:0070852]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; chaperone binding [GO:0051087]; Hsp70 protein binding [GO:0030544]; proteasome binding [GO:0070628]; negative regulation of inclusion body assembly [GO:0090084]; protein folding [GO:0006457]

snps:
rs2031640 rs17325713 rs137853019 rs137853017 rs35865691 rs780332615 rs140551762 rs11839380 rs137853018 rs17078605 rs281865119 rs201505036 rs17078601 rs137853016 rs35799469 rs773009784 rs749383532 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZJ4-1; Sequence=Displayed; Name=2; IsoId=Q9NZJ4-2; Sequence=VSP_022325; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19208651}. Note=Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60.


uniprotID: Q9HBV2
geneSymbol: SPACA1
name: Sperm acrosome membrane-associated protein 1 (Sperm acrosomal membrane-associated protein 32)
length: 294
go: ENSG00000118434;
snps: rs2276089
sequence:

opentargets:
acrosomal membrane [GO:0002080]; inner acrosomal membrane [GO:0002079]; integral component of membrane [GO:0016021]; acrosome assembly [GO:0001675]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome inner membrane {ECO:0000269|PubMed:11870081}; Single-pass type I membrane protein {ECO:0000305}. Note=Primarily found in the equatorial segment of the acrosome (PubMed:11870081). The tyrosine phosphorylated protein localizes to a smaller region within the equatorial segment (By similarity). Also expressed weakly in the principal segment (PubMed:11870081). {ECO:0000250|UniProtKB:D5K8A9, ECO:0000269|PubMed:11870081}.


uniprotID: Q8IXA5
geneSymbol: SPACA3
length: 215
go: ENSG00000141316;
snps: rs16967845 rs28963 rs35420663
name:
Sperm acrosome membrane-associated protein 3 (Cancer/testis antigen 54) (CT54) (Lysozyme-like acrosomal sperm-specific secretory protein ALLP-17) (Lysozyme-like protein 3) (Sperm lysozyme-like protein 1) (Sperm protein reactive with antisperm antibodies) (Sperm protein reactive with ASA) [Cleaved into: Sperm acrosome membrane-associated protein 3, membrane form; Sperm acrosome membrane-associated protein 3, processed form]

sequence:

opentargets:
acrosomal matrix [GO:0043159]; acrosomal membrane [GO:0002080]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; secretory granule [GO:0030141]; cell wall macromolecule catabolic process [GO:0016998]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]; monocyte activation [GO:0042117]; peptidoglycan catabolic process [GO:0009253]; positive regulation of macrophage activation [GO:0043032]; positive regulation of phagocytosis [GO:0050766]; response to virus [GO:0009615]; sperm-egg recognition [GO:0035036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IXA5-1; Sequence=Displayed; Name=2; IsoId=Q8IXA5-2; Sequence=VSP_021329; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasmic vesicle, secretory vesicle, acrosome membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Note=Anterior acrosome in non-capacitated spermatozoa and retained in the equatorial segment and in the luminal face of both the inner and outer acrosomal membranes following capacitation and the acrosome reaction. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: Q9UBE0
geneSymbol: SAE1
reactome: R-HSA-3065676;R-HSA-3065678;
pdb: 1Y8Q;1Y8R;3KYC;3KYD;
length: 346
go: ENSG00000142230;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11481243}.
name:
SUMO-activating enzyme subunit 1 (Ubiquitin-like 1-activating enzyme E1A) [Cleaved into: SUMO-activating enzyme subunit 1, N-terminally processed]

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SUMO activating enzyme complex [GO:0031510]; ATP-dependent protein binding [GO:0043008]; enzyme activator activity [GO:0008047]; protein C-terminus binding [GO:0008022]; protein heterodimerization activity [GO:0046982]; small protein activating enzyme binding [GO:0044388]; ubiquitin activating enzyme activity [GO:0004839]; positive regulation of protein targeting to mitochondrion [GO:1903955]; protein sumoylation [GO:0016925]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UBE0-1; Sequence=Displayed; Name=2; IsoId=Q9UBE0-2; Sequence=VSP_045373, VSP_045374; Note=No experimental confirmation available.; Name=3; IsoId=Q9UBE0-3; Sequence=VSP_045372, VSP_045375; Note=No experimental confirmation available.; 


uniprotID: Q15424
geneSymbol: SAFB
reactome: R-HSA-3899300;
length: 915
go: ENSG00000160633;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19674106}.
name:
Scaffold attachment factor B1 (SAF-B) (SAF-B1) (HSP27 estrogen response element-TATA box-binding protein) (HSP27 ERE-TATA-binding protein)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; double-stranded DNA binding [GO:0003690]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; chromatin organization [GO:0006325]; hormone metabolic process [GO:0042445]; intracellular estrogen receptor signaling pathway [GO:0030520]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of growth [GO:0040008]; regulation of mRNA processing [GO:0050684]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q15424-1; Sequence=Displayed; Name=2; IsoId=Q15424-2; Sequence=VSP_045838, VSP_045839; Note=No experimental confirmation available.; Name=3; IsoId=Q15424-3; Sequence=VSP_045839; Note=No experimental confirmation available.; Name=4; IsoId=Q15424-4; Sequence=VSP_046902, VSP_045839; Note=No experimental confirmation available.; 


uniprotID: P63162
geneSymbol: SNRPN
reactome: R-HSA-72163;
pdb: 5MF9;
length: 240
go: ENSG00000128739;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Small nuclear ribonucleoprotein-associated protein N (snRNP-N) (Sm protein D) (Sm-D) (Sm protein N) (Sm-N) (SmN) (Tissue-specific-splicing protein)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; small nuclear ribonucleoprotein complex [GO:0030532]; spliceosomal complex [GO:0005681]; U1 snRNP [GO:0005685]; U2 snRNP [GO:0005686]; U2-type prespliceosome [GO:0071004]; U4 snRNP [GO:0005687]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U5 snRNP [GO:0005682]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; response to hormone [GO:0009725]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P63162-1; Sequence=Displayed; Name=2; IsoId=P63162-2; Sequence=VSP_056488; Note=No experimental confirmation available.; 


uniprotID: Q2I0M5
geneSymbol: RSPO4
reactome: R-HSA-4641263;
name: R-spondin-4 (Roof plate-specific spondin-4) (hRspo4)
length: 234
go: ENSG00000101282;
snps: rs74315420 rs780506366 rs6140807 rs74315421 rs74315422
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; frizzled binding [GO:0005109]; heparin binding [GO:0008201]; nail development [GO:0035878]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of Wnt signaling pathway [GO:0030177]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2I0M5-1; Sequence=Displayed; Name=2; IsoId=Q2I0M5-2; Sequence=VSP_018325; 


uniprotID: P08865
geneSymbol: RPSA
pdb: 3BCH;4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G18;6G4S;6G51;6G53;6G5H;6G5I;
length: 295
go: ENSG00000168028;
drug: DB04985;
name:
40S ribosomal protein SA (37 kDa laminin receptor precursor) (37LRP) (37/67 kDa laminin receptor) (LRP/LR) (67 kDa laminin receptor) (67LR) (Colon carcinoma laminin-binding protein) (Laminin receptor 1) (LamR) (Laminin-binding protein precursor p40) (LBP/p40) (Multidrug resistance-associated protein MGr1-Ag) (NEM/1CHD4) (Small ribosomal subunit protein uS2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; laminin binding [GO:0043236]; laminin receptor activity [GO:0005055]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; virus receptor activity [GO:0001618]; cell adhesion [GO:0007155]; 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 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000461]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; ribosomal small subunit assembly [GO:0000028]; rRNA export from nucleus [GO:0006407]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]

snps:
rs397514762 rs397514763 rs17856150 rs397514760 rs397514760 rs1214087389 rs397514761 rs369708612 rs143085301 

location:
SUBCELLULAR LOCATION: Cell membrane. Cytoplasm. Nucleus {ECO:0000255|HAMAP-Rule:MF_03016}. Note=67LR is found at the surface of the plasma membrane, with its C-terminal laminin-binding domain accessible to extracellular ligands. 37LRP is found at the cell surface, in the cytoplasm and in the nucleus (By similarity). Colocalizes with PPP1R16B in the cell membrane. {ECO:0000255|HAMAP-Rule:MF_03016}.


uniprotID: Q9H1X1
geneSymbol: RSPH9
name: Radial spoke head protein 9 homolog
length: 276
go: ENSG00000172426;
snps: rs16896629
sequence:

opentargets:
9+2 motile cilium [GO:0097729]; axoneme [GO:0005930]; motile cilium [GO:0031514]; axoneme assembly [GO:0035082]; cilium movement [GO:0003341]; cilium movement involved in cell motility [GO:0060294]; motile cilium assembly [GO:0044458]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H1X1-1; Sequence=Displayed; Name=2; IsoId=Q9H1X1-2; Sequence=VSP_042934, VSP_042935; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}. Note=Radial spoke. {ECO:0000305}.


uniprotID: Q01196
geneSymbol: RUNX1
pdb: 1CMO;1CO1;1E50;1H9D;1LJM;
length: 453
go: ENSG00000159216;
snps: rs1060499616 rs74315450 rs1055308 rs1055309
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-1912408;R-HSA-549127;R-HSA-8877330;R-HSA-8931987;R-HSA-8934593;R-HSA-8935964;R-HSA-8936459;R-HSA-8939236;R-HSA-8939242;R-HSA-8939243;R-HSA-8939245;R-HSA-8939246;R-HSA-8939247;R-HSA-8939256;R-HSA-8941333;R-HSA-8951936;R-HSA-9018519;

name:
Runt-related transcription factor 1 (Acute myeloid leukemia 1 protein) (Core-binding factor subunit alpha-2) (CBF-alpha-2) (Oncogene AML-1) (Polyomavirus enhancer-binding protein 2 alpha B subunit) (PEA2-alpha B) (PEBP2-alpha B) (SL3-3 enhancer factor 1 alpha B subunit) (SL3/AKV core-binding factor alpha B subunit)

sequence:

opentargets:
core-binding factor complex [GO:0016513]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; hematopoietic stem cell proliferation [GO:0071425]; hemopoiesis [GO:0030097]; myeloid cell differentiation [GO:0030099]; negative regulation of CD4-positive, alpha-beta T cell differentiation [GO:0043371]; negative regulation of gene expression [GO:0010629]; negative regulation of granulocyte differentiation [GO:0030853]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron differentiation [GO:0030182]; peripheral nervous system neuron development [GO:0048935]; positive regulation of angiogenesis [GO:0045766]; positive regulation of CD8-positive, alpha-beta T cell differentiation [GO:0043378]; positive regulation of granulocyte differentiation [GO:0030854]; positive regulation of interleukin-2 production [GO:0032743]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of B cell receptor signaling pathway [GO:0050855]; regulation of bicellular tight junction assembly [GO:2000810]; regulation of cytokine-mediated signaling pathway [GO:0001959]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of intracellular estrogen receptor signaling pathway [GO:0033146]; regulation of keratinocyte differentiation [GO:0045616]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of myeloid cell differentiation [GO:0045637]; regulation of regulatory T cell differentiation [GO:0045589]; regulation of Wnt signaling pathway [GO:0030111]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist.; Name=AML-1B; IsoId=Q01196-1; Sequence=Displayed; Name=AML-1A; IsoId=Q01196-2; Sequence=VSP_005929; Name=AML-1C; IsoId=Q01196-3; Sequence=VSP_005926, VSP_005927; Name=AML-1E; IsoId=Q01196-4; Sequence=VSP_005928; Name=AML-1FA; IsoId=Q01196-5; Sequence=VSP_005923, VSP_005924; Name=AML-1FB; IsoId=Q01196-6; Sequence=VSP_005921, VSP_005922; Name=AML-1FC; IsoId=Q01196-7; Sequence=VSP_005920, VSP_005925; Name=AML-1G; IsoId=Q01196-8; Sequence=VSP_005917; Name=AML-1H; IsoId=Q01196-9; Sequence=VSP_005916; Name=AML-1I; IsoId=Q01196-10; Sequence=VSP_005918; Name=AML-1L; Synonyms=AML1-delta N; IsoId=Q01196-11; Sequence=VSP_005919; 


uniprotID: Q96CM3
geneSymbol: RPUSD4
pdb: 5UBA;
length: 377
go: ENSG00000165526;
snps: rs2282580 rs35468281 rs34809853 rs35157957
name:
Mitochondrial RNA pseudouridine synthase RPUSD4 (EC 5.4.99.-) (RNA pseudouridylate synthase domain-containing protein 4)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; pseudouridine synthase activity [GO:0009982]; RNA binding [GO:0003723]; positive regulation of mitochondrial translation [GO:0070131]; pseudouridine synthesis [GO:0001522]; tRNA processing [GO:0008033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96CM3-1; Sequence=Displayed; Name=2; IsoId=Q96CM3-2; Sequence=VSP_047375; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:27974379, ECO:0000269|PubMed:28082677}. Note=Localizes to mitochondrial RNA granules, platforms for post-transcriptional RNA modification and ribosome assembly. {ECO:0000269|PubMed:27974379, ECO:0000269|PubMed:28082677}.


uniprotID: Q13761
geneSymbol: RUNX3
pdb: 5W69;
length: 415
go: ENSG00000020633;
reactome:
R-HSA-4411364;R-HSA-8941855;R-HSA-8941856;R-HSA-8941858;R-HSA-8949275;R-HSA-8951430;R-HSA-8951671;R-HSA-8951911;R-HSA-8951936;R-HSA-8952158;

name:
Runt-related transcription factor 3 (Acute myeloid leukemia 2 protein) (Core-binding factor subunit alpha-3) (CBF-alpha-3) (Oncogene AML-2) (Polyomavirus enhancer-binding protein 2 alpha C subunit) (PEA2-alpha C) (PEBP2-alpha C) (SL3-3 enhancer factor 1 alpha C subunit) (SL3/AKV core-binding factor alpha C subunit)

sequence:

opentargets:
core-binding factor complex [GO:0016513]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nuclear chromatin [GO:0000790]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; chondrocyte differentiation [GO:0002062]; hemopoiesis [GO:0030097]; negative regulation of CD4-positive, alpha-beta T cell differentiation [GO:0043371]; negative regulation of cell cycle [GO:0045786]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron differentiation [GO:0030182]; peripheral nervous system neuron development [GO:0048935]; positive regulation of CD8-positive, alpha-beta T cell differentiation [GO:0043378]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]; regulation of transcription, DNA-templated [GO:0006355]; response to transforming growth factor beta [GO:0071559]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13761-1; Sequence=Displayed; Name=2; IsoId=Q13761-2; Sequence=VSP_005949; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00399, ECO:0000269|PubMed:20100835, ECO:0000269|PubMed:20599712}. Cytoplasm {ECO:0000269|PubMed:20100835, ECO:0000269|PubMed:20599712}. Note=The tyrosine phosphorylated form localizes to the cytoplasm. Translocates from the cytoplasm to the nucleus following TGF-beta stimulation. {ECO:0000269|PubMed:20599712}.


uniprotID: Q9Y230
geneSymbol: RUVBL2
reactome: R-HSA-171319;R-HSA-3214847;
pdb: 2CQA;2XSZ;3UK6;5OAF;6ETX;6FO1;6H7X;
length: 463
go: ENSG00000183207;
name:
RuvB-like 2 (EC 3.6.4.12) (48 kDa TATA box-binding protein-interacting protein) (48 kDa TBP-interacting protein) (51 kDa erythrocyte cytosolic protein) (ECP-51) (INO80 complex subunit J) (Repressing pontin 52) (Reptin 52) (TIP49b) (TIP60-associated protein 54-beta) (TAP54-beta)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Ino80 complex [GO:0031011]; intracellular [GO:0005622]; membrane [GO:0016020]; MLL1 complex [GO:0071339]; NuA4 histone acetyltransferase complex [GO:0035267]; nuclear euchromatin [GO:0005719]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; R2TP complex [GO:0097255]; ribonucleoprotein complex [GO:1990904]; Swr1 complex [GO:0000812]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; ATP-dependent 5'-3' DNA helicase activity [GO:0043141]; ATP-dependent DNA helicase activity [GO:0004003]; ATPase binding [GO:0051117]; beta-catenin binding [GO:0008013]; chromatin DNA binding [GO:0031490]; DNA helicase activity [GO:0003678]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; TBP-class protein binding [GO:0017025]; TFIID-class transcription factor complex binding [GO:0001094]; transcription corepressor activity [GO:0003714]; unfolded protein binding [GO:0051082]; box C/D snoRNP assembly [GO:0000492]; cellular response to estradiol stimulus [GO:0071392]; cellular response to UV [GO:0034644]; chromatin remodeling [GO:0006338]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; establishment of protein localization to chromatin [GO:0071169]; histone acetylation [GO:0016573]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of estrogen receptor binding [GO:0071899]; positive regulation of histone acetylation [GO:0035066]; positive regulation of telomerase RNA localization to Cajal body [GO:1904874]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein folding [GO:0006457]; regulation of growth [GO:0040008]; regulation of transcription by RNA polymerase II [GO:0006357]; transcriptional activation by promoter-enhancer looping [GO:0071733]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y230-1; Sequence=Displayed; Name=2; IsoId=Q9Y230-2; Sequence=VSP_056584; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus matrix. Nucleus, nucleoplasm. Cytoplasm. Membrane. Note=Mainly localized in the nucleus, associated with nuclear matrix or in the nuclear cytosol. Although it is also present in the cytoplasm and associated with the cell membranes.


uniprotID: Q8NG11
geneSymbol: TSPAN14
reactome: R-HSA-6798695;
name: Tetraspanin-14 (Tspan-14) (DC-TM4F2) (Transmembrane 4 superfamily member 14)
length: 270
go: ENSG00000108219;
sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; tetraspanin-enriched microdomain [GO:0097197]; enzyme binding [GO:0019899]; cell surface receptor signaling pathway [GO:0007166]; neutrophil degranulation [GO:0043312]; positive regulation of Notch signaling pathway [GO:0045747]; protein localization to plasma membrane [GO:0072659]; protein maturation [GO:0051604]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NG11-1; Sequence=Displayed; Name=2; IsoId=Q8NG11-2; Sequence=VSP_011878; Name=3; IsoId=Q8NG11-3; Sequence=VSP_043194; Note=No experimental confirmation available.; 

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


uniprotID: Q9UKR8
geneSymbol: TSPAN16
name: Tetraspanin-16 (Tspan-16) (Tetraspanin TM4-B) (Transmembrane 4 superfamily member 16)
length: 245
go: ENSG00000130167;
snps: rs34162761 rs17001344 rs318687
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; cell surface receptor signaling pathway [GO:0007166]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UKR8-1; Sequence=Displayed; Name=2; IsoId=Q9UKR8-2; Sequence=VSP_056726; Name=3; IsoId=Q9UKR8-3; Sequence=VSP_056723, VSP_056726; Name=4; IsoId=Q9UKR8-4; Sequence=VSP_056724, VSP_056725; 


uniprotID: Q96PP4
geneSymbol: TSGA13
name: Testis-specific gene 13 protein
length: 275
go: ENSG00000213265;
sequence:


uniprotID: Q86TV6
geneSymbol: TTC7B
pdb: 5DSE;6BQ1;
length: 843
go: ENSG00000165914;
name:
Tetratricopeptide repeat protein 7B (TPR repeat protein 7B) (Tetratricopeptide repeat protein 7-like-1) (TPR repeat protein 7-like-1)

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86TV6-1; Sequence=Displayed; Note=No experimental confirmation available. Derived from EST data.; Name=2; IsoId=Q86TV6-2; Sequence=VSP_008061; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23229899}. Cell membrane {ECO:0000269|PubMed:23229899}. Note=Localizes to the cytosol and is recruited to the plasma membrane following interaction with EFR3 (EFR3A or EFR3B) (PubMed:23229899). {ECO:0000269|PubMed:23229899}.


uniprotID: Q8TAM2
geneSymbol: TTC8
reactome: R-HSA-5620922;
name: Tetratricopeptide repeat protein 8 (TPR repeat protein 8) (Bardet-Biedl syndrome 8 protein)
length: 541
go: ENSG00000165533;
sequence:

opentargets:
BBSome [GO:0034464]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary membrane [GO:0060170]; cilium [GO:0005929]; cytosol [GO:0005829]; non-motile cilium [GO:0097730]; RNA polymerase II repressing transcription factor binding [GO:0001103]; cilium assembly [GO:0060271]; establishment of anatomical structure orientation [GO:0048560]; non-motile cilium assembly [GO:1905515]; protein transport [GO:0015031]; sensory processing [GO:0050893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8TAM2-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8TAM2-2; Sequence=VSP_007821; Note=No experimental confirmation available.; Name=3; IsoId=Q8TAM2-3; Sequence=VSP_007822, VSP_007823; Name=4; IsoId=Q8TAM2-4; Sequence=VSP_007823; Name=5; IsoId=Q8TAM2-6; Sequence=VSP_041151, VSP_041152; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17574030}. Cell projection, cilium membrane {ECO:0000269|PubMed:17574030}. Cytoplasm {ECO:0000269|PubMed:22072986}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:17574030}. Cell projection, cilium {ECO:0000250|UniProtKB:Q8VD72}.


uniprotID: Q96AE7
geneSymbol: TTC17
name: Tetratricopeptide repeat protein 17 (TPR repeat protein 17)
length: 1141
go: ENSG00000052841;
snps: rs12099204 rs16937479
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; actin filament polymerization [GO:0030041]; cilium organization [GO:0044782]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96AE7-1; Sequence=Displayed; Name=2; IsoId=Q96AE7-2; Sequence=VSP_056857, VSP_056858, VSP_056859; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24475127}. Cell membrane {ECO:0000269|PubMed:24475127}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24475127}. Note=Colocalized with CATIP at F-actin rich zones and at dynamic plasma membrane protrusions.


uniprotID: P02766
geneSymbol: TTR
reactome: R-HSA-2453864;R-HSA-2453902;R-HSA-3000171;R-HSA-6798695;R-HSA-975634;R-HSA-977225;
name: Transthyretin (ATTR) (Prealbumin) (TBPA)
length: 147
go: ENSG00000118271;
location: SUBCELLULAR LOCATION: Secreted. Cytoplasm.
pdb:
1BM7;1BMZ;1BZ8;1BZD;1BZE;1DVQ;1DVS;1DVT;1DVU;1DVX;1DVY;1DVZ;1E3F;1E4H;1E5A;1ETA;1ETB;1F41;1F64;1F86;1FH2;1FHN;1G1O;1GKO;1ICT;1III;1IIK;1IJN;1QAB;1QWH;1RLB;1SOK;1SOQ;1THA;1THC;1TLM;1TSH;1TT6;1TTA;1TTB;1TTC;1TTR;1TYR;1TZ8;1U21;1X7S;1X7T;1Y1D;1Z7J;1ZCR;1ZD6;2B14;2B15;2B16;2B77;2B9A;2F7I;2F8I;2FBR;2FLM;2G3X;2G3Z;2G4E;2G4G;2G5U;2G9K;2GAB;2H4E;2M5N;2NBO;2NBP;2NOY;2PAB;2QEL;2QGB;2QGC;2QGD;2QGE;2ROX;2ROY;2TRH;2TRY;2WQA;3A4D;3A4E;3A4F;3B56;3BSZ;3BT0;3CBR;3CFM;3CFN;3CFQ;3CFT;3CN0;3CN1;3CN2;3CN3;3CN4;3CXF;3D2T;3D7P;3DGD;3DID;3DJR;3DJS;3DJT;3DJZ;3DK0;3DK2;3DO4;3ESN;3ESO;3ESP;3FC8;3FCB;3GLZ;3GPS;3GRB;3GRG;3GS0;3GS4;3GS7;3HJ0;3I9A;3I9I;3I9P;3IMR;3IMS;3IMT;3IMU;3IMV;3IMW;3IPB;3IPE;3KGS;3KGT;3KGU;3M1O;3NEE;3NEO;3NES;3NEX;3NG5;3OZK;3OZL;3P3R;3P3S;3P3T;3P3U;3SSG;3TCT;3TFB;3U2I;3U2J;3W3B;4ABQ;4ABU;4ABV;4ABW;4AC2;4AC4;4ACT;4ANK;4D7B;4DER;4DES;4DET;4DEU;4DEW;4FI6;4FI7;4FI8;4HIQ;4HIS;4HJS;4HJT;4HJU;4I85;4I87;4I89;4IIZ;4IK6;4IK7;4IKI;4IKJ;4IKK;4IKL;4KY2;4L1S;4L1T;4MAS;4MRB;4MRC;4N85;4N86;4N87;4PM1;4PME;4PMF;4PVL;4PVM;4PVN;4PWE;4PWF;4PWG;4PWH;4PWI;4PWJ;4PWK;4QRF;4QXV;4QYA;4TKW;4TL4;4TL5;4TLK;4TLS;4TLT;4TLU;4TM9;4TNE;4TNF;4TNG;4TQ8;4TQH;4TQI;4TQP;4WNJ;4WNS;4WO0;4Y9B;4Y9C;4Y9E;4Y9F;4Y9G;4YDM;4YDN;5A6I;5AKS;5AKT;5AKV;5AL0;5AL8;5AYT;5BOJ;5CLX;5CLY;5CLZ;5CM1;5CN3;5CNH;5CR1;5DEJ;5DWP;5E23;5E4A;5E4O;5EN3;5EZP;5FO2;5FW6;5FW7;5FW8;5H0V;5H0W;5H0X;5H0Y;5H0Z;5HJG;5IHH;5JID;5JIM;5JIQ;5K1J;5K1N;5L4F;5L4I;5L4J;5L4M;5LLL;5LLV;5N5Q;5N62;5N7C;5OQ0;5TTR;5TZL;5U48;5U49;5U4A;5U4B;5U4C;5U4D;5U4E;5U4F;5U4G;6GR7;6GRP;

sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE

opentargets:
azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; protein-containing complex [GO:0032991]; hormone activity [GO:0005179]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; thyroid hormone binding [GO:0070324]; cellular protein metabolic process [GO:0044267]; extracellular matrix organization [GO:0030198]; neutrophil degranulation [GO:0043312]; retinoid metabolic process [GO:0001523]; retinol metabolic process [GO:0042572]; thyroid hormone transport [GO:0070327]

drug:
DB07201;DB04474;DB07282;DB07240;DB06885;DB07176;DB00586;DB00255;DB00861;DB01093;DB02266;DB05352;DB01645;DB00451;DB00279;DB01583;DB05235;DB02179;DB03167;DB02709;

snps:
rs1800458 rs121918083 rs121918094 rs121918098 rs121918093 rs11541790 rs79977247 rs79977247 rs28933979 rs28933979 rs121918068 rs121918068 rs121918077 rs11541796 rs11541796 rs104894665 rs730881169 rs121918078 rs121918090 rs387906523 rs121918081 rs121918080 rs386134269 rs121918097 rs121918079 rs121918069 rs121918069 rs730881163 rs121918070 rs121918086 rs121918091 rs121918085 rs121918100 rs267607160 rs121918084 rs730881164 rs121918071 rs958191819 rs121918072 rs121918082 rs121918074 rs121918087 rs267607161 rs755337715 rs745834030 rs121918095 rs121918089 rs267607159 rs121918073 rs121918075 rs121918088 rs730881167 rs28933981 rs876658108 rs76992529 rs144965179 


uniprotID: P68036
geneSymbol: UBE2L3
reactome: R-HSA-8866652;R-HSA-8866654;R-HSA-983168;
pdb: 1C4Z;1FBV;3SQV;3SY2;4Q5E;4Q5H;5HPT;5TTE;5UDH;6CP2;6DJW;6DJX;
length: 154
go: ENSG00000185651;
name:
Ubiquitin-conjugating enzyme E2 L3 (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme L3) (L-UBC) (UbcH7) (Ubiquitin carrier protein L3) (Ubiquitin-conjugating enzyme E2-F1) (Ubiquitin-protein ligase L3)

sequence:
MAASRRLMKELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEINFPAEYPFKPPKITFKTKIYHPNIDEKGQVCLPVISAENWKPATKTDQVIQSLIALVNDPQPEHPLRADLAEEYSKDRKKFCKNAEEFTKKYGEKRPVD

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; ATP binding [GO:0005524]; enzyme binding [GO:0019899]; RNA binding [GO:0003723]; transcription coactivator activity [GO:0003713]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activator activity [GO:0097027]; ubiquitin-protein transferase activity [GO:0004842]; cell cycle phase transition [GO:0044770]; cell proliferation [GO:0008283]; cellular protein modification process [GO:0006464]; cellular response to glucocorticoid stimulus [GO:0071385]; cellular response to steroid hormone stimulus [GO:0071383]; positive regulation of protein targeting to mitochondrion [GO:1903955]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; protein K11-linked ubiquitination [GO:0070979]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of transcription, DNA-templated [GO:0006355]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P68036-1; Sequence=Displayed; Name=2; IsoId=P68036-2; Sequence=VSP_045152; Name=3; IsoId=P68036-3; Sequence=VSP_047342; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11278816, ECO:0000269|PubMed:17003263}. Cytoplasm {ECO:0000269|PubMed:11278816, ECO:0000269|PubMed:17003263}.


uniprotID: P63146
geneSymbol: UBE2B
reactome: R-HSA-110314;R-HSA-8866652;R-HSA-8866654;R-HSA-983168;
pdb: 1JAS;1NXA;2Y4W;2YB6;2YBF;
length: 152
go: ENSG00000119048;
name:
Ubiquitin-conjugating enzyme E2 B (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme B) (RAD6 homolog B) (HR6B) (hHR6B) (Ubiquitin carrier protein B) (Ubiquitin-conjugating enzyme E2-17 kDa) (Ubiquitin-protein ligase B)

sequence:
MSTPARRRLMRDFKRLQEDPPVGVSGAPSENNIMQWNAVIFGPEGTPFEDGTFKLVIEFSEEYPNKPPTVRFLSKMFHPNVYADGSICLDILQNRWSPTYDVSSILTSIQSLLDEPNPNSPANSQAAQLYQENKREYEKRVSAIVEQSWNDS

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; HULC complex [GO:0033503]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; replication fork [GO:0005657]; XY body [GO:0001741]; 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 DNA damage stimulus [GO:0006974]; chiasma assembly [GO:0051026]; DNA damage response, detection of DNA damage [GO:0042769]; DNA repair [GO:0006281]; histone H2A ubiquitination [GO:0033522]; histone lysine demethylation [GO:0070076]; in utero embryonic development [GO:0001701]; maintenance of chromatin silencing [GO:0006344]; meiotic telomere clustering [GO:0045141]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cAMP-mediated signaling [GO:0043951]; negative regulation of histone phosphorylation [GO:0033128]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of reciprocal meiotic recombination [GO:0010845]; 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 K63-linked ubiquitination [GO:0070534]; protein monoubiquitination [GO:0006513]; protein polyubiquitination [GO:0000209]; protein stabilization [GO:0050821]; protein ubiquitination [GO:0016567]; response to drug [GO:0042493]; response to UV [GO:0009411]; sperm axoneme assembly [GO:0007288]; spermatogenesis [GO:0007283]; synaptonemal complex organization [GO:0070193]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P63149}. Nucleus {ECO:0000250|UniProtKB:P63149}. Note=In peripheral neurons, expressed both at the plasma membrane and in nuclei. {ECO:0000250|UniProtKB:P63149}.


uniprotID: F5GYI3
geneSymbol: UBAP1L
name: Ubiquitin-associated protein 1-like (UBAP-1L)
length: 381
go: ENSG00000246922;
sequence:

opentargets:
ESCRT I complex [GO:0000813]; ubiquitin binding [GO:0043130]; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway [GO:0043162]


uniprotID: O14562
geneSymbol: UBFD1
name: Ubiquitin domain-containing protein UBFD1 (Ubiquitin-binding protein homolog)
length: 309
go: ENSG00000103353;
opentargets: cadherin binding [GO:0045296]; RNA binding [GO:0003723]
sequence:


uniprotID: Q9Y5Z9
geneSymbol: UBIAD1
reactome: R-HSA-6806664;
length: 338
go: ENSG00000120942;
name:
UbiA prenyltransferase domain-containing protein 1 (EC 2.5.1.-) (Transitional epithelial response protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of Golgi membrane [GO:0030173]; membrane [GO:0016020]; mitochondrial membrane [GO:0031966]; nucleus [GO:0005634]; antioxidant activity [GO:0016209]; prenyltransferase activity [GO:0004659]; menaquinone biosynthetic process [GO:0009234]; ubiquinone biosynthetic process [GO:0006744]; vitamin K biosynthetic process [GO:0042371]; vitamin K metabolic process [GO:0042373]

snps:
rs114000606 rs118203945 rs118203950 rs118203947 rs118203951 rs118203948 rs397514669 rs118203946 rs118203952 rs118203949 rs118203953 rs371811409 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5Z9-1; Sequence=Displayed; Name=2; IsoId=Q9Y5Z9-2; Sequence=VSP_019455, VSP_019456; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Mitochondrion membrane. Cytoplasm. Nucleus.


uniprotID: Q9C0C9
geneSymbol: UBE2O
reactome: R-HSA-983168;
length: 1292
go: ENSG00000175931;
snps: rs3803739
name:
(E3-independent) E2 ubiquitin-conjugating enzyme (EC 2.3.2.24) (E2/E3 hybrid ubiquitin-protein ligase UBE2O) (Ubiquitin carrier protein O) (Ubiquitin-conjugating enzyme E2 O) (Ubiquitin-conjugating enzyme E2 of 230 kDa) (Ubiquitin-conjugating enzyme E2-230K) (Ubiquitin-protein ligase O)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleus [GO:0005634]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; positive regulation of BMP signaling pathway [GO:0030513]; protein K63-linked ubiquitination [GO:0070534]; protein monoubiquitination [GO:0006513]; retrograde transport, endosome to Golgi [GO:0042147]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24703950}. Nucleus {ECO:0000269|PubMed:24703950}. Note=Mainly localizes to the cytoplasm.


uniprotID: P17480
geneSymbol: UBTF
reactome: R-HSA-427413;R-HSA-73728;R-HSA-73762;R-HSA-73772;R-HSA-73777;R-HSA-73863;
pdb: 1K99;1L8Y;1L8Z;2HDZ;
name: Nucleolar transcription factor 1 (Autoantigen NOR-90) (Upstream-binding factor 1) (UBF-1)
length: 764
go: ENSG00000108312;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250|UniProtKB:P25976}.
sequence:

opentargets:
fibrillar center [GO:0001650]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA binding [GO:0003723]; RNA polymerase I CORE element sequence-specific DNA binding [GO:0001164]; RNA polymerase I upstream control element sequence-specific DNA binding [GO:0001165]; scaffold protein binding [GO:0097110]; positive regulation of transcription by RNA polymerase I [GO:0045943]; regulation of transcription by RNA polymerase I [GO:0006356]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase I [GO:0006360]; transcription initiation from RNA polymerase I promoter [GO:0006361]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=UBF1; Synonyms=Long; IsoId=P17480-1; Sequence=Displayed; Name=UBF2; Synonyms=Short; IsoId=P17480-2; Sequence=VSP_002193; 


uniprotID: Q8N7F7
geneSymbol: UBL4B
name: Ubiquitin-like protein 4B
length: 174
go: ENSG00000186150;
opentargets: cytoplasm [GO:0005737]; positive regulation of protein targeting to mitochondrion [GO:1903955]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MFLTVKLLLGQRCSLKVSGQESVATLKRLVSRRLKVPEEQQHLLFRGQLLEDDKHLSDYCIGPNASINVIMQPLEKMALKEAHQPQTQPLWHQLGLVLAKHFEPQDAKAVLQLLRQEHEERLQKISLEHLEQLAQYLLAEEPHVEPAGERELEAKARPQSSCDMEEKEEAAADQ


uniprotID: Q9NPG3
geneSymbol: UBN1
reactome: R-HSA-2559584;
pdb: 4ZBJ;
name: Ubinuclein-1 (HIRA-binding protein) (Protein VT4) (Ubiquitously expressed nuclear protein)
length: 1134
go: ENSG00000118900;
snps: rs35103368
sequence:

opentargets:
bicellular tight junction [GO:0005923]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA replication-independent nucleosome assembly [GO:0006336]; regulation of transcription by RNA polymerase II [GO:0006357]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPG3-1; Sequence=Displayed; Name=2; IsoId=Q9NPG3-2; Sequence=VSP_036971; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Nucleus, PML body. Cell junction, tight junction. Note=Localized as a nuclear speckled-like pattern in proliferating primary fibroblasts. Colocalizes with HIRA, PML and SP100 in PML bodies of senescent cells. Colocalizes with TJP1 and CLDN1. Detected along the upper granular cell layer of epidermis. When overexpressed, accumulates in the nucleus in cells showing defective cytokinesis.


uniprotID: Q6ZU65
geneSymbol: UBN2
name: Ubinuclein-2
length: 1347
go: ENSG00000157741;
opentargets: extracellular space [GO:0005615]; nucleoplasm [GO:0005654]
snps: rs17160850
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZU65-1; Sequence=Displayed; Name=2; IsoId=Q6ZU65-2; Sequence=VSP_027021, VSP_027022; Note=No experimental confirmation available.; 


uniprotID: Q9Y2K6
geneSymbol: USP20
reactome: R-HSA-5689880;
pdb: 5Z4I;
length: 914
go: ENSG00000136878;
snps: rs36086252 rs36055332
name:
Ubiquitin carboxyl-terminal hydrolase 20 (EC 3.4.19.12) (Deubiquitinating enzyme 20) (Ubiquitin thioesterase 20) (Ubiquitin-specific-processing protease 20) (VHL-interacting deubiquitinating enzyme 2) (hVDU2)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; cysteine-type endopeptidase activity [GO:0004197]; G protein-coupled receptor binding [GO:0001664]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; zinc ion binding [GO:0008270]; endocytosis [GO:0006897]; protein deubiquitination [GO:0016579]; protein K48-linked deubiquitination [GO:0071108]; protein K63-linked deubiquitination [GO:0070536]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23486064}. Note=According to PubMed:12865408, it localizes in the endoplasmic reticulum; however the relevance of such result is unclear.


uniprotID: Q96K76
geneSymbol: USP47
reactome: R-HSA-5689880;
length: 1375
go: ENSG00000170242;
snps: rs11022079
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21362556}.
name:
Ubiquitin carboxyl-terminal hydrolase 47 (EC 3.4.19.12) (Deubiquitinating enzyme 47) (Ubiquitin thioesterase 47) (Ubiquitin-specific-processing protease 47)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; SCF ubiquitin ligase complex [GO:0019005]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; ubiquitinyl hydrolase activity [GO:0101005]; WD40-repeat domain binding [GO:0071987]; base-excision repair [GO:0006284]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to UV [GO:0034644]; monoubiquitinated protein deubiquitination [GO:0035520]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of G2/M transition of mitotic cell cycle [GO:0010972]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell growth [GO:0030307]; protein deubiquitination [GO:0016579]; regulation of protein stability [GO:0031647]; response to drug [GO:0042493]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96K76-1; Sequence=Displayed; Name=2; IsoId=Q96K76-2; Sequence=VSP_014415; Name=3; IsoId=Q96K76-3; Sequence=VSP_014414; Note=No experimental confirmation available.; Name=4; IsoId=Q96K76-4; Sequence=VSP_055650; Note=No experimental confirmation available.; 


uniprotID: Q3LFD5
geneSymbol: USP41
reactome: R-HSA-1169408;
length: 358
snps: rs2542134 rs2277833
name:
Putative ubiquitin carboxyl-terminal hydrolase 41 (EC 3.4.19.12) (Deubiquitinating enzyme 41) (Ubiquitin thioesterase 41) (Ubiquitin-specific-processing protease 41)

sequence:

opentargets:
cytosol [GO:0005829]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; protein deubiquitination [GO:0016579]; regulation of protein stability [GO:0031647]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q5T4S7
geneSymbol: UBR4
reactome: R-HSA-6798695;R-HSA-983168;
length: 5183
go: ENSG00000127481;
drug: DB04959;DB05483;
snps: rs16862578 rs756549939 rs12584 rs2274010
name:
E3 ubiquitin-protein ligase UBR4 (EC 2.3.2.27) (600 kDa retinoblastoma protein-associated factor) (N-recognin-4) (RING-type E3 ubiquitin transferase UBR4) (Retinoblastoma-associated factor of 600 kDa) (RBAF600) (p600) (Zinc finger UBR1-type protein 1)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; calmodulin binding [GO:0005516]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; neutrophil degranulation [GO:0043312]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q5T4S7-1; Sequence=Displayed; Name=2; IsoId=Q5T4S7-2; Sequence=VSP_025209; Note=No experimental confirmation available.; Name=3; IsoId=Q5T4S7-3; Sequence=VSP_025203, VSP_025206; Name=4; IsoId=Q5T4S7-4; Sequence=VSP_025205, VSP_025206; Name=5; IsoId=Q5T4S7-5; Sequence=VSP_025201, VSP_025202, VSP_025204; Name=6; IsoId=Q5T4S7-6; Sequence=VSP_025200, VSP_025207, VSP_025208; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm. Cytoplasm, cytoskeleton. Nucleus. Note=Concentrates at the leading edge of membrane structures involved in actin motility.


uniprotID: P68543
geneSymbol: UBXN2A
name: UBX domain-containing protein 2A (UBX domain-containing protein 4)
length: 259
go: ENSG00000173960;
sequence:

opentargets:
cis-Golgi network [GO:0005801]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; acetylcholine receptor binding [GO:0033130]; ubiquitin binding [GO:0043130]; autophagosome assembly [GO:0000045]; cellular response to leukemia inhibitory factor [GO:1990830]; Golgi organization [GO:0007030]; membrane fusion [GO:0061025]; nuclear envelope reassembly [GO:0031468]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; regulation of gene expression [GO:0010468]; regulation of protein catabolic process [GO:0042176]; regulation of protein ubiquitination [GO:0031396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P68543-1; Sequence=Displayed; Name=2; IsoId=P68543-2; Sequence=VSP_056306; Note=No experimental confirmation available.; 


uniprotID: Q9NRR5
geneSymbol: UBQLN4
length: 601
go: ENSG00000160803;
snps: rs2297792
name:
Ubiquilin-4 (Ataxin-1 interacting ubiquitin-like protein) (A1Up) (Ataxin-1 ubiquitin-like-interacting protein A1U) (Connexin43-interacting protein of 75 kDa) (CIP75)

sequence:

opentargets:
autophagosome [GO:0005776]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; identical protein binding [GO:0042802]; polyubiquitin modification-dependent protein binding [GO:0031593]; autophagy [GO:0006914]; negative regulation of autophagosome maturation [GO:1901097]; regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032434]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRR5-1; Sequence=Displayed; Name=2; IsoId=Q9NRR5-2; Sequence=VSP_041187, VSP_041188; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11001934, ECO:0000269|PubMed:15280365}. Cytoplasm {ECO:0000269|PubMed:15280365}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q99NB8}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q99NB8}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:23459205}. Note=Colocalizes with the proteasome, both in nucleus and cytoplasm. {ECO:0000269|PubMed:15280365}.


uniprotID: Q8IWV7
geneSymbol: UBR1
reactome: R-HSA-983168;
pdb: 3NY1;5TDC;
length: 1749
go: ENSG00000159459;
snps: rs119477054 rs768686147 rs34568456 rs35069201 rs140972409 rs3917223
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16311597}.
name:
E3 ubiquitin-protein ligase UBR1 (EC 2.3.2.27) (N-recognin-1) (RING-type E3 ubiquitin transferase UBR1) (Ubiquitin-protein ligase E3-alpha-1) (Ubiquitin-protein ligase E3-alpha-I)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; proteasome complex [GO:0000502]; ubiquitin ligase complex [GO:0000151]; leucine binding [GO:0070728]; ubiquitin protein ligase activity [GO:0061630]; zinc ion binding [GO:0008270]; cellular response to leucine [GO:0071233]; negative regulation of TOR signaling [GO:0032007]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process via the N-end rule pathway [GO:0071596]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IWV7-1; Sequence=Displayed; Name=2; IsoId=Q8IWV7-2; Sequence=VSP_015164, VSP_015165; Note=No experimental confirmation available.; 


uniprotID: P09936
geneSymbol: UCHL1
reactome: R-HSA-5689603;
pdb: 2ETL;2LEN;3IFW;3IRT;3KVF;3KW5;4DM9;4JKJ;
length: 223
go: ENSG00000154277;
snps: rs397515634 rs5030732 rs121917767 rs768996179 rs1057519600
name:
Ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCH-L1) (EC 3.4.19.12) (EC 6.-.-.-) (Neuron cytoplasmic protein 9.5) (PGP 9.5) (PGP9.5) (Ubiquitin thioesterase L1)

sequence:

opentargets:
axon cytoplasm [GO:1904115]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; myelin sheath [GO:0043209]; neuron projection terminus [GO:0044306]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; alpha-2A adrenergic receptor binding [GO:0031694]; cysteine-type endopeptidase activity [GO:0004197]; ligase activity [GO:0016874]; omega peptidase activity [GO:0008242]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase binding [GO:0031625]; adult walking behavior [GO:0007628]; axon target recognition [GO:0007412]; axonal transport of mitochondrion [GO:0019896]; cell proliferation [GO:0008283]; eating behavior [GO:0042755]; muscle fiber development [GO:0048747]; negative regulation of MAP kinase activity [GO:0043407]; neuromuscular process [GO:0050905]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; regulation of macroautophagy [GO:0016241]; response to ischemia [GO:0002931]; sensory perception of pain [GO:0019233]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19261853}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:19261853}; Lipid-anchor {ECO:0000269|PubMed:19261853}. Note=About 30% of total UCHL1 is associated with membranes in brain.


uniprotID: P55089
geneSymbol: UCN
reactome: R-HSA-373080;R-HSA-422085;
pdb: 2RMF;3N96;
name: Urocortin
length: 124
go: ENSG00000163794;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MRQAGRAALLAALLLLVQLCPGSSQRSPEAAGVQDPSLRWSPGARNQGGGARALLLLLAERFPRRAGPGRLGLGTAGERPRRDNPSLSIDLTFHLLRTLLELARTQSQRERAEQNRIIFDSVGK

opentargets:
axon terminus [GO:0043679]; dendrite [GO:0030425]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; perikaryon [GO:0043204]; varicosity [GO:0043196]; corticotropin-releasing hormone activity [GO:0017045]; corticotropin-releasing hormone receptor 1 binding [GO:0051430]; corticotropin-releasing hormone receptor 2 binding [GO:0051431]; histone deacetylase inhibitor activity [GO:0046811]; neuropeptide hormone activity [GO:0005184]; activation of protein kinase A activity [GO:0034199]; aerobic respiration [GO:0009060]; associative learning [GO:0008306]; drinking behavior [GO:0042756]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; gastric emptying [GO:0035483]; inflammatory response [GO:0006954]; negative regulation of apoptotic process [GO:0043066]; negative regulation of appetite [GO:0032099]; negative regulation of blood pressure [GO:0045776]; negative regulation of cell size [GO:0045792]; negative regulation of epinephrine secretion [GO:0032811]; negative regulation of feeding behavior [GO:2000252]; negative regulation of gastric acid secretion [GO:0060455]; negative regulation of gene expression [GO:0010629]; negative regulation of glucagon secretion [GO:0070093]; negative regulation of necrotic cell death [GO:0060547]; negative regulation of neuron death [GO:1901215]; neuron projection development [GO:0031175]; neuropeptide signaling pathway [GO:0007218]; pancreatic juice secretion [GO:0030157]; positive regulation of behavioral fear response [GO:2000987]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of calcium ion import [GO:0090280]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of cardiac muscle contraction [GO:0060452]; positive regulation of cell growth [GO:0030307]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of corticotropin secretion [GO:0051461]; positive regulation of cortisol secretion [GO:0051464]; positive regulation of DNA replication [GO:0045740]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of translation [GO:0045727]; positive regulation of vascular permeability [GO:0043117]; regulation of synaptic transmission, glutamatergic [GO:0051966]; response to auditory stimulus [GO:0010996]; response to estradiol [GO:0032355]; response to glucocorticoid [GO:0051384]; response to oxidative stress [GO:0006979]; response to pain [GO:0048265]; sensory perception of sound [GO:0007605]; social behavior [GO:0035176]; startle response [GO:0001964]


uniprotID: P0C7P4
geneSymbol: UQCRFS1P1
length: 283
name:
Putative cytochrome b-c1 complex subunit Rieske-like protein 1 (Ubiquinol-cytochrome c reductase Rieske iron-sulfur subunit pseudogene 1)

sequence:

opentargets:
mitochondrial respiratory chain complex III [GO:0005750]; mitochondrion [GO:0005739]; 2 iron, 2 sulfur cluster binding [GO:0051537]; metal ion binding [GO:0046872]; ubiquinol-cytochrome-c reductase activity [GO:0008121]; mitochondrial electron transport, ubiquinol to cytochrome c [GO:0006122]


uniprotID: P55916
geneSymbol: UCP3
reactome: R-HSA-167826;R-HSA-167827;
name: Mitochondrial uncoupling protein 3 (UCP 3) (Solute carrier family 25 member 9)
length: 312
go: ENSG00000175564;
snps: rs8179180 rs17848368 rs2229707
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; oxidative phosphorylation uncoupler activity [GO:0017077]; transporter activity [GO:0005215]; adaptive thermogenesis [GO:1990845]; aging [GO:0007568]; cellular response to hormone stimulus [GO:0032870]; fatty acid metabolic process [GO:0006631]; lipid metabolic process [GO:0006629]; mitochondrial transmembrane transport [GO:1990542]; proton transmembrane transport [GO:1902600]; respiratory gaseous exchange [GO:0007585]; response to activity [GO:0014823]; response to cold [GO:0009409]; response to glucocorticoid [GO:0051384]; response to hypoxia [GO:0001666]; response to insulin [GO:0032868]; response to nutrient [GO:0007584]; response to superoxide [GO:0000303]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=UCP3L; IsoId=P55916-1; Sequence=Displayed; Name=UCP3S; IsoId=P55916-2; Sequence=VSP_003271; Name=3; IsoId=P55916-3; Sequence=VSP_003270; 


uniprotID: Q9BZX2
geneSymbol: UCK2
reactome: R-HSA-73614;
pdb: 1UDW;1UEI;1UEJ;1UFQ;1UJ2;1XRJ;
length: 261
go: ENSG00000143179;
drug: DB04272;DB02097;DB03403;DB02431;DB04005;
name:
Uridine-cytidine kinase 2 (UCK 2) (EC 2.7.1.48) (Cytidine monophosphokinase 2) (Testis-specific protein TSA903) (Uridine monophosphokinase 2)

sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; nucleoside kinase activity [GO:0019206]; uridine kinase activity [GO:0004849]; CMP salvage [GO:0006238]; CTP salvage [GO:0044211]; pyrimidine nucleoside salvage [GO:0043097]; UMP salvage [GO:0044206]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BZX2-1; Sequence=Displayed; Name=2; IsoId=Q9BZX2-2; Sequence=VSP_014262; 


uniprotID: Q96PU4
geneSymbol: UHRF2
reactome: R-HSA-3899300;
pdb: 1WY8;1Z6U;2E6S;3OLN;4PW5;4PW6;4PW7;4TVR;5YCO;
length: 802
go: ENSG00000147854;
snps: rs147971931
name:
E3 ubiquitin-protein ligase UHRF2 (EC 2.3.2.27) (Np95/ICBP90-like RING finger protein) (Np95-like RING finger protein) (Nuclear protein 97) (Nuclear zinc finger protein Np97) (RING finger protein 107) (RING-type E3 ubiquitin transferase UHRF2) (Ubiquitin-like PHD and RING finger domain-containing protein 2) (Ubiquitin-like-containing PHD and RING finger domains protein 2)

sequence:

opentargets:
nuclear heterochromatin [GO:0005720]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; SUMO transferase activity [GO:0019789]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; cell cycle [GO:0007049]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; maintenance of DNA methylation [GO:0010216]; positive regulation of cell cycle arrest [GO:0071158]; protein autoubiquitination [GO:0051865]; protein ubiquitination [GO:0016567]; regulation of cell cycle [GO:0051726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96PU4-1; Sequence=Displayed; Name=2; Synonyms=a; IsoId=Q96PU4-2; Sequence=VSP_013874, VSP_013875; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00358, ECO:0000269|PubMed:12176013, ECO:0000269|PubMed:23404503}. Note=Enriched at pericentric heterochromatin (PH). This localization is dependent on the interaction with H3K9me3 (By similarity). {ECO:0000250}.


uniprotID: A0JNW5
geneSymbol: UHRF1BP1L
name: UHRF1-binding protein 1-like (Syntaxin-6 Habc-interacting protein of 164 kDa)
length: 1464
go: ENSG00000111647;
snps: rs58214704 rs7296162 rs17029945
sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; GARP complex binding [GO:0062069]; protein homodimerization activity [GO:0042803]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A0JNW5-1; Sequence=Displayed; Name=2; IsoId=A0JNW5-2; Sequence=VSP_027014, VSP_027015; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20163565}. Early endosome {ECO:0000269|PubMed:20163565}. Note=Primarily cytosolic. Recruited to early endosomes following STX6 overexpression. Overexpression of both STX6 and UHRF1BP1L results in aberrant tubulation of endosomal membranes. {ECO:0000269|PubMed:20163565}.


uniprotID: Q9BZM5
geneSymbol: ULBP2
reactome: R-HSA-163125;
length: 246
go: ENSG00000131015;
name:
UL16-binding protein 2 (ALCAN-alpha) (NKG2D ligand 2) (N2DL-2) (NKG2DL2) (Retinoic acid early transcript 1H)

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; 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]; 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}. Secreted {ECO:0000269|PubMed:11444831}. Note=In CMV-infected fibroblasts, detected in the endoplasmic reticulum/cis-Golgi. {ECO:0000269|PubMed:12782710}.


uniprotID: Q9BZM4
geneSymbol: ULBP3
reactome: R-HSA-198933;
pdb: 1KCG;
length: 244
go: ENSG00000131019;
name:
UL16-binding protein 3 (ALCAN-gamma) (NKG2D ligand 3) (N2DL-3) (NKG2DL3) (Retinoic acid early transcript 1N)

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; 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:0000250|UniProtKB:Q9BZM6}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q9BZM6}.


uniprotID: Q8IYT8
geneSymbol: ULK2
name: Serine/threonine-protein kinase ULK2 (EC 2.7.11.1) (Unc-51-like kinase 2)
length: 1036
go: ENSG00000083290;
snps: rs34670978 rs150122 rs4462660 rs55730189 rs35107651
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; membrane [GO:0016020]; phagophore assembly site [GO:0000407]; phagophore assembly site membrane [GO:0034045]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; autophagosome assembly [GO:0000045]; autophagy [GO:0006914]; autophagy of host cells involved in interaction with symbiont [GO:0075044]; axon extension [GO:0048675]; negative regulation of collateral sprouting [GO:0048671]; protein autophosphorylation [GO:0046777]; regulation of autophagy [GO:0010506]; response to starvation [GO:0042594]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000269|PubMed:18936157}; Peripheral membrane protein {ECO:0000269|PubMed:18936157}. Note=Localizes to pre-autophagosomal membrane.


uniprotID: Q8IZJ1
geneSymbol: UNC5B
reactome: R-HSA-373752;R-HSA-418886;R-HSA-418889;
length: 945
go: ENSG00000107731;
snps: rs34957097 rs10509332
name:
Netrin receptor UNC5B (Protein unc-5 homolog 2) (Protein unc-5 homolog B) (p53-regulated receptor for death and life protein 1) (p53RDL1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; netrin receptor activity [GO:0005042]; angiogenesis [GO:0001525]; anterior/posterior axon guidance [GO:0033564]; apoptotic process [GO:0006915]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of neuron apoptotic process [GO:0043524]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZJ1-1; Sequence=Displayed; Name=2; IsoId=Q8IZJ1-2; Sequence=VSP_011698; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25374360}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:O08722}. Membrane raft {ECO:0000250|UniProtKB:O08722}. Note=Associated with lipid rafts. {ECO:0000250|UniProtKB:O08722}.


uniprotID: A6NJT0
geneSymbol: UNCX
name: Homeobox protein unc-4 homolog (Homeobox protein Uncx4.1)
length: 531
go: ENSG00000164853;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; cartilage condensation [GO:0001502]; common myeloid progenitor cell proliferation [GO:0035726]; dorsal spinal cord development [GO:0021516]; olfactory bulb interneuron differentiation [GO:0021889]; pattern specification process [GO:0007389]; regulation of cell differentiation [GO:0045595]


uniprotID: C9J7I0
geneSymbol: UMAD1
length: 137
go: ENSG00000219545;
name:
UBAP1-MVB12-associated (UMA)-domain containing protein 1 (RPA3 antisense RNA 1) (RPA3 opposite strand)

sequence:
MFHFFRKPPESKKPSVPETEADGFVLLGDTTDEQRMTARGKTSDIEANQPLETNKENSSSVTVSDPEMENKAGQTLENSSLMAELLSDVPFTLAPHVLAVQGTITDLPDHLLSYDGSENLSRFWYDFTLENSVLCDS


uniprotID: Q53HI1
geneSymbol: UNC50
length: 259
go: ENSG00000115446;
name:
Protein unc-50 homolog (Periodontal ligament-specific protein 22) (PDLs22) (Protein GMH1 homolog) (hGMH1) (Uncoordinated-like protein)

sequence:

opentargets:
integral component of Golgi membrane [GO:0030173]; nuclear inner membrane [GO:0005637]; RNA binding [GO:0003723]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Golgi apparatus membrane {ECO:0000269|PubMed:12808035}; Multi-pass membrane protein {ECO:0000269|PubMed:12808035}.


uniprotID: Q70J99
geneSymbol: UNC13D
reactome: R-HSA-6798695;
name: Protein unc-13 homolog D (Munc13-4)
length: 1090
go: ENSG00000092929;
snps: rs9904366 rs17496835 rs1135688
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytosol [GO:0005829]; exocytic vesicle [GO:0070382]; extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; lysosome [GO:0005764]; membrane [GO:0016020]; recycling endosome [GO:0055037]; Weibel-Palade body [GO:0033093]; Rab GTPase binding [GO:0017137]; defense response to virus [GO:0051607]; germinal center formation [GO:0002467]; granuloma formation [GO:0002432]; natural killer cell degranulation [GO:0043320]; neutrophil degranulation [GO:0043312]; phagocytosis [GO:0006909]; positive regulation of exocytosis [GO:0045921]; positive regulation of regulated secretory pathway [GO:1903307]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; regulation of mast cell degranulation [GO:0043304]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q70J99-1; Sequence=Displayed; Name=2; IsoId=Q70J99-2; Sequence=VSP_011385, VSP_011386, VSP_011387; Note=No experimental confirmation available.; Name=3; IsoId=Q70J99-3; Sequence=VSP_037949; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Late endosome. Recycling endosome. Lysosome. Note=Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles.


uniprotID: Q9H3U1
geneSymbol: UNC45A
pdb: 2DBA;
name: Protein unc-45 homolog A (Unc-45A) (GCUNC-45) (Smooth muscle cell-associated protein 1) (SMAP-1)
length: 944
go: ENSG00000140553;
snps: rs8041035
sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nuclear speck [GO:0016607]; perinuclear region of cytoplasm [GO:0048471]; cadherin binding [GO:0045296]; Hsp90 protein binding [GO:0051879]; cell differentiation [GO:0030154]; chaperone-mediated protein folding [GO:0061077]; muscle organ development [GO:0007517]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=2, SMAP-1b; IsoId=Q9H3U1-1; Sequence=Displayed; Name=2; Synonyms=3; IsoId=Q9H3U1-2; Sequence=VSP_020585; Name=3; IsoId=Q9H3U1-3; Sequence=VSP_020584; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16478993}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:16478993}. Nucleus {ECO:0000269|PubMed:16478993}. Note=Predominant in the perinuclear region. Little protein in the nucleus.


uniprotID: Q9H0V1
geneSymbol: TMEM168
name: Transmembrane protein 168
length: 697
go: ENSG00000146802;
opentargets: integral component of membrane [GO:0016021]; transport vesicle [GO:0030133]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0V1-1; Sequence=Displayed; Name=2; IsoId=Q9H0V1-2; Sequence=VSP_056846; Note=No experimental confirmation available.; 


uniprotID: P16035
geneSymbol: TIMP2
reactome: R-HSA-1592389;R-HSA-6798695;
pdb: 1BR9;1GXD;2TMP;4ILW;
name: Metalloproteinase inhibitor 2 (CSC-21K) (Tissue inhibitor of metalloproteinases 2) (TIMP-2)
length: 220
go: ENSG00000035862;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; growth cone [GO:0030426]; neuronal cell body [GO:0043025]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; integrin binding [GO:0005178]; metalloendopeptidase inhibitor activity [GO:0008191]; peptidase inhibitor activity [GO:0030414]; protease binding [GO:0002020]; zinc ion binding [GO:0008270]; aging [GO:0007568]; central nervous system development [GO:0007417]; extracellular matrix disassembly [GO:0022617]; negative regulation of cell proliferation [GO:0008285]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of membrane protein ectodomain proteolysis [GO:0051045]; negative regulation of metallopeptidase activity [GO:1905049]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of Ras protein signal transduction [GO:0046580]; neutrophil degranulation [GO:0043312]; positive regulation of adenylate cyclase activity [GO:0045762]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of neuron differentiation [GO:0045666]; regulation of Rap protein signal transduction [GO:0032487]; response to cytokine [GO:0034097]; response to drug [GO:0042493]; response to hormone [GO:0009725]; response to organic substance [GO:0010033]


uniprotID: Q3ZCQ8
geneSymbol: TIMM50
reactome: R-HSA-1268020;
name: Mitochondrial import inner membrane translocase subunit TIM50
length: 353
go: ENSG00000105197;
snps: rs1300848445 rs1244226820
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; TIM23 mitochondrial import inner membrane translocase complex [GO:0005744]; interleukin-2 receptor binding [GO:0005134]; phosphoprotein phosphatase activity [GO:0004721]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; ribonucleoprotein complex binding [GO:0043021]; RNA binding [GO:0003723]; mitochondrial membrane organization [GO:0007006]; protein dephosphorylation [GO:0006470]; protein import into mitochondrial matrix [GO:0030150]; release of cytochrome c from mitochondria [GO:0001836]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3ZCQ8-1; Sequence=Displayed; Name=2; Synonyms=Tim50a; IsoId=Q3ZCQ8-2; Sequence=VSP_016389; Name=3; IsoId=Q3ZCQ8-3; Sequence=VSP_047682, VSP_047683; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:15044455}; Single-pass membrane protein {ECO:0000269|PubMed:15044455}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus speckle {ECO:0000269|PubMed:16008839}. Note=Nuclear and enriched in speckles with snRNPs. {ECO:0000269|PubMed:16008839}.


uniprotID: Q969K7
geneSymbol: TMEM54
name: Transmembrane protein 54 (Beta-casein-like protein) (Protein CAC-1)
length: 222
go: ENSG00000121900;
opentargets: integral component of membrane [GO:0016021]
snps: rs10914632
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q969K7-1; Sequence=Displayed; Name=2; IsoId=Q969K7-2; Sequence=VSP_017532; Name=3; IsoId=Q969K7-3; Sequence=VSP_017533; 


uniprotID: P21580
geneSymbol: TNFAIP3
reactome: R-HSA-168638;R-HSA-5357786;R-HSA-5357905;R-HSA-5357956;R-HSA-5689896;R-HSA-936440;
pdb: 2EQE;2EQF;2EQG;2VFJ;3DKB;3OJ3;3OJ4;3VUW;3VUX;3VUY;3ZJD;3ZJE;3ZJF;3ZJG;5LRX;5V3B;5V3P;
length: 790
go: ENSG00000118503;
snps: rs5029941 rs2230926 rs5029957
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Lysosome.; SUBCELLULAR LOCATION: A20p50: Cytoplasm.
name:
Tumor necrosis factor alpha-induced protein 3 (TNF alpha-induced protein 3) (EC 2.3.2.-) (EC 3.4.19.12) (OTU domain-containing protein 7C) (Putative DNA-binding protein A20) (Zinc finger protein A20) [Cleaved into: A20p50; A20p37]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; nucleus [GO:0005634]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; K63-linked polyubiquitin modification-dependent protein binding [GO:0070530]; kinase binding [GO:0019900]; Lys63-specific deubiquitinase activity [GO:0061578]; protease binding [GO:0002020]; protein self-association [GO:0043621]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; ubiquitin binding [GO:0043130]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; apoptotic process [GO:0006915]; B-1 B cell homeostasis [GO:0001922]; cell migration [GO:0016477]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to lipopolysaccharide [GO:0071222]; cytoskeleton organization [GO:0007010]; establishment of protein localization to vacuole [GO:0072666]; inflammatory response [GO:0006954]; negative regulation of B cell activation [GO:0050869]; negative regulation of bone resorption [GO:0045779]; negative regulation of CD40 signaling pathway [GO:2000349]; negative regulation of chronic inflammatory response [GO:0002677]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of inflammatory response [GO:0050728]; negative regulation of innate immune response [GO:0045824]; negative regulation of interleukin-1 beta secretion [GO:0050713]; negative regulation of interleukin-2 production [GO:0032703]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway [GO:0070429]; negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway [GO:0070433]; negative regulation of osteoclast proliferation [GO:0090291]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of smooth muscle cell proliferation [GO:0048662]; negative regulation of toll-like receptor 2 signaling pathway [GO:0034136]; negative regulation of toll-like receptor 3 signaling pathway [GO:0034140]; negative regulation of toll-like receptor 4 signaling pathway [GO:0034144]; negative regulation of toll-like receptor 5 signaling pathway [GO:0034148]; negative regulation of tumor necrosis factor production [GO:0032720]; negative regulation of type I interferon production [GO:0032480]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of cellular protein catabolic process [GO:1903364]; positive regulation of hepatocyte proliferation [GO:2000347]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of Wnt signaling pathway [GO:0030177]; protein complex oligomerization [GO:0051259]; protein deubiquitination [GO:0016579]; protein deubiquitination involved in ubiquitin-dependent protein catabolic process [GO:0071947]; protein K11-linked deubiquitination [GO:0035871]; protein K29-linked deubiquitination [GO:0035523]; protein K33-linked deubiquitination [GO:1990168]; protein K48-linked deubiquitination [GO:0071108]; protein K48-linked ubiquitination [GO:0070936]; protein K63-linked deubiquitination [GO:0070536]; regulation of defense response to virus by host [GO:0050691]; regulation of germinal center formation [GO:0002634]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; regulation of vascular wound healing [GO:0061043]; response to molecule of bacterial origin [GO:0002237]; response to muramyl dipeptide [GO:0032495]; tolerance induction to lipopolysaccharide [GO:0072573]


uniprotID: Q5U3C3
geneSymbol: TMEM164
name: Transmembrane protein 164
length: 297
go: ENSG00000157600;
opentargets: integral component of membrane [GO:0016021]
snps: rs34026111
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5U3C3-1; Sequence=Displayed; Name=2; IsoId=Q5U3C3-2; Sequence=VSP_044964; Note=No experimental confirmation available.; 


uniprotID: Q9Y6G1
geneSymbol: TMEM14A
pdb: 2LOO;2LOP;
name: Transmembrane protein 14A
sequence: MDLIGFGYAALVTFGSIFGYKRRGGVPSLIAGLFVGCLAGYGAYRVSNDKRDVKVSLFTAFFLATIMGVRFKRSKKIMPAGLVAGLSLMMILRLVLLLL
length: 99
go: ENSG00000096092;
snps: rs11543266
opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901029]

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:21723035}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:21723035}.


uniprotID: O75509
geneSymbol: TNFRSF21
reactome: R-HSA-1989781;
pdb: 2DBH;3QO4;3U3P;3U3Q;3U3S;3U3T;3U3V;
name: Tumor necrosis factor receptor superfamily member 21 (Death receptor 6) (CD antigen CD358)
length: 655
go: ENSG00000146072;
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; intrinsic component of plasma membrane [GO:0031226]; plasma membrane [GO:0005886]; adaptive immune response [GO:0002250]; apoptotic process [GO:0006915]; axonal fasciculation [GO:0007413]; B cell apoptotic process [GO:0001783]; cellular response to tumor necrosis factor [GO:0071356]; humoral immune response [GO:0006959]; myelination [GO:0042552]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of interleukin-10 secretion [GO:2001180]; negative regulation of interleukin-13 secretion [GO:2000666]; negative regulation of interleukin-5 secretion [GO:2000663]; negative regulation of myelination [GO:0031642]; negative regulation of T cell proliferation [GO:0042130]; neuron apoptotic process [GO:0051402]; oligodendrocyte apoptotic process [GO:0097252]; regulation of lipid metabolic process [GO:0019216]; regulation of oligodendrocyte differentiation [GO:0048713]; T cell receptor signaling pathway [GO:0050852]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19654028}; Single-pass type I membrane protein {ECO:0000269|PubMed:19654028}.


uniprotID: Q4W5G0
geneSymbol: TIGD2
name: Tigger transposable element-derived protein 2
length: 525
go: ENSG00000180346;
opentargets: nucleus [GO:0005634]; DNA binding [GO:0003677]
snps: rs2280099
sequence:

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00320, ECO:0000255|PROSITE-ProRule:PRU00583}.


uniprotID: Q5BJD5
geneSymbol: TMEM41B
name: Transmembrane protein 41B
length: 291
go: ENSG00000166471;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; autophagosome assembly [GO:0000045]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5BJD5-1; Sequence=Displayed; Name=2; IsoId=Q5BJD5-2; Sequence=VSP_026316, VSP_026317; Note=No experimental confirmation available.; Name=3; IsoId=Q5BJD5-3; Sequence=VSP_045268, VSP_045269; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:30093494}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q96JJ7
geneSymbol: TMX3
reactome: R-HSA-114608;
length: 454
go: ENSG00000166479;
snps: rs11557684
name:
Protein disulfide-isomerase TMX3 (EC 5.3.4.1) (Thioredoxin domain-containing protein 10) (Thioredoxin-related transmembrane protein 3)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; protein disulfide isomerase activity [GO:0003756]; thiol oxidase activity [GO:0016972]; cell redox homeostasis [GO:0045454]; peptidyl-cysteine oxidation [GO:0018171]; platelet degranulation [GO:0002576]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JJ7-1; Sequence=Displayed; Name=2; IsoId=Q96JJ7-2; Sequence=VSP_013748, VSP_013749; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15623505}; Single-pass membrane protein {ECO:0000269|PubMed:15623505}.


uniprotID: Q99805
geneSymbol: TM9SF2
name: Transmembrane 9 superfamily member 2 (p76)
length: 663
go: ENSG00000125304;
location: SUBCELLULAR LOCATION: Endosome membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endosome [GO:0005768]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; protein localization to membrane [GO:0072657]


uniprotID: Q8NBN3
geneSymbol: TMEM87A
name: Transmembrane protein 87A
length: 555
go: ENSG00000103978;
sequence:

opentargets:
cytosol [GO:0005829]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NBN3-1; Sequence=Displayed; Name=2; IsoId=Q8NBN3-2; Sequence=VSP_022208, VSP_022209; Name=3; IsoId=Q8NBN3-3; Sequence=VSP_022207; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:26157166}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: A6NML5
geneSymbol: TMEM212
name: Transmembrane protein 212
length: 194
go: ENSG00000186329;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MKGLYQAAGRILVTLGILSVCSGVIAFFPVFSYKPWFTGWSVRIACPIWNGALAITTGVLLLLAYREWTQRYLGEATFTFVILSIMGCPLHFAIALESALLGPYCFYSFSGIAGTNYLGYAVTFPYPYAKFPLACVDPPHYEEYHLTLQALDLCLSFTLLCTSLTVFIKLSARLIQNGHINMQLPAGNPNPFSP


uniprotID: Q6UX40
geneSymbol: TMEM107
name: Transmembrane protein 107
length: 140
go: ENSG00000179029;
sequence:
MGRVSGLVPSRFLTLLAHLVVVITLFWSRDSNIQACLPLTFTPEEYDKQDIQLVAALSVTLGLFAVELAGFLSGVSMFNSTQSLISIGAHCSASVALSFFIFERWECTTYWYIFVFCSALPAVTEMALFVTVFGLKKKPF

opentargets:
ciliary transition zone [GO:0035869]; integral component of membrane [GO:0016021]; MKS complex [GO:0036038]; cilium assembly [GO:0060271]; embryonic digit morphogenesis [GO:0042733]; neural tube patterning [GO:0021532]; non-motile cilium assembly [GO:1905515]; protein localization to ciliary transition zone [GO:1904491]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6UX40-1; Sequence=Displayed; Name=2; IsoId=Q6UX40-2; Sequence=VSP_021210, VSP_021211; Note=No experimental confirmation available.; Name=3; IsoId=Q6UX40-3; Sequence=VSP_021212, VSP_021213; Note=No experimental confirmation available.; Name=4; IsoId=Q6UX40-4; Sequence=VSP_021212; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell projection, cilium {ECO:0000269|PubMed:26595381}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000269|PubMed:26595381}.


uniprotID: Q8WW62
geneSymbol: TMED6
name: Transmembrane emp24 domain-containing protein 6 (p24 family protein gamma-5) (p24gamma5)
length: 240
go: ENSG00000157315;
sequence:

opentargets:
COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; intracellular protein transport [GO:0006886]


uniprotID: Q6ZNK6
geneSymbol: TIFAB
name: TRAF-interacting protein with FHA domain-containing protein B (TIFA-like protein)
length: 161
go: ENSG00000255833;
sequence:
MEKPLTVLRVSLYHPTLGPSAFANVPPRLQHDTSPLLLGRGQDAHLQLQLPRLSRRHLSLEPYLEKGSALLAFCLKALSRKGCVWVNGLTLRYLEQVPLSTVNRVSFSGIQMLVRVEEGTSLEAFVCYFHVSPSPLIYRPEAEETDEWEGISQGQPPPGSG

opentargets:
intracellular [GO:0005622]; auditory behavior [GO:0031223]; cochlea development [GO:0090102]; cochlea morphogenesis [GO:0090103]; craniofacial suture morphogenesis [GO:0097094]; genitalia development [GO:0048806]; genitalia morphogenesis [GO:0035112]; hard palate morphogenesis [GO:1905748]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inner ear development [GO:0048839]; inner ear morphogenesis [GO:0042472]; learned vocalization behavior [GO:0098583]; mastication [GO:0071626]; negative regulation of relaxation of muscle [GO:1901078]; negative regulation of saliva secretion [GO:1905747]; neuromuscular process controlling balance [GO:0050885]; peristalsis [GO:0030432]; regulation of muscle organ development [GO:0048634]; thorax and anterior abdomen determination [GO:0007356]; trigeminal nerve development [GO:0021559]; vestibulocochlear nerve formation [GO:0021650]


uniprotID: Q96HH4
geneSymbol: TMEM169
name: Transmembrane protein 169
length: 297
go: ENSG00000163449;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q96B21
geneSymbol: TMEM45B
name: Transmembrane protein 45B
length: 275
go: ENSG00000151715;
opentargets: integral component of membrane [GO:0016021]
snps: rs558813
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q5BJH2
geneSymbol: TMEM128
name: Transmembrane protein 128
length: 165
go: ENSG00000132406;
opentargets: integral component of membrane [GO:0016021]
snps: rs6854167
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MDSSRARQQLRRRFLLLPDAEAQLDREGDAGPETSTAVEKKEKPLPRLNIHSGFWILASIVVTYYVDFFKTLKENFHTSSWFLCGSALLLVSLSIAFYCIVYLEWYCGIGEYDVKYPALIPITTASFIAAGICFNIALWHVWSFFTPLLLFTQFMGVVMFITLLG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5BJH2-1; Sequence=Displayed; Name=2; IsoId=Q5BJH2-2; Sequence=VSP_021229; Note=No experimental confirmation available.; 


uniprotID: Q9BU02
geneSymbol: THTPA
reactome: R-HSA-196819;
pdb: 3BHD;3TVL;
name: Thiamine-triphosphatase (ThTPase) (EC 3.6.1.28)
length: 230
go: ENSG00000259431;
snps: rs34015250
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11827967}.
sequence:

opentargets:
cytosol [GO:0005829]; hydrolase activity [GO:0016787]; magnesium ion binding [GO:0000287]; thiamin-triphosphatase activity [GO:0050333]; dephosphorylation [GO:0016311]; generation of precursor metabolites and energy [GO:0006091]; thiamine diphosphate metabolic process [GO:0042357]; thiamine metabolic process [GO:0006772]; thiamine-containing compound metabolic process [GO:0042723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BU02-1; Sequence=Displayed; Name=2; IsoId=Q9BU02-2; Sequence=VSP_047213, VSP_047214; Note=No experimental confirmation available.; 


uniprotID: Q9BTF0
geneSymbol: THUMPD2
name: THUMP domain-containing protein 2
length: 503
go: ENSG00000138050;
sequence:

opentargets:
RNA binding [GO:0003723]; tRNA (guanine) methyltransferase activity [GO:0016423]; tRNA methylation [GO:0030488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BTF0-1; Sequence=Displayed; Name=2; IsoId=Q9BTF0-2; Sequence=VSP_041645, VSP_041646; 


uniprotID: Q8WZ59
geneSymbol: TMEM190
name: Transmembrane protein 190
length: 177
go: ENSG00000160472;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:
MLGCGIPALGLLLLLQGSADGNGIQGFFYPWSCEGDIWDRESCGGQAAIDSPNLCLRLRCCYRNGVCYHQRPDENVRRKHMWALVWTCSGLLLLSCSICLFWWAKRRDVLHMPGFLAGPCDMSKSVSLLSKHRGTKKTPSTGSVPVALSKESRDVEGGTEGEGTEEGEETEGEEEED

opentargets:
inner acrosomal membrane [GO:0002079]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; protein self-association [GO:0043621]; hematopoietic progenitor cell differentiation [GO:0002244]


uniprotID: Q9ULS5
geneSymbol: TMCC3
name: Transmembrane and coiled-coil domain protein 3
length: 477
go: ENSG00000057704;
opentargets: integral component of membrane [GO:0016021]
snps: rs1274523 rs17854038
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9NUH8
geneSymbol: TMEM14B
name: Transmembrane protein 14B
length: 114
go: ENSG00000137210;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}.
sequence:
MEKPLFPLVPLHWFGFGYTALVVSGGIVGYVKTGSVPSLAAGLLFGSLAGLGAYQLYQDPRNVWGFLAATSVTFVGVMGMRSYYYGKFMPVGLIAGASLLMAAKVGVRMLMTSD

opentargets:
integral component of membrane [GO:0016021]; cerebral cortex development [GO:0021987]; neural precursor cell proliferation [GO:0061351]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NUH8-1; Sequence=Displayed; Name=2; IsoId=Q9NUH8-2; Sequence=VSP_046899; Note=Gene prediction based on EST data.; 


uniprotID: P49788
geneSymbol: RARRES1
length: 294
go: ENSG00000118849;
drug: DB00755;
snps: rs7621322 rs11919919
name:
Retinoic acid receptor responder protein 1 (Phorbol ester-induced gene 1 protein) (PERG-1) (RAR-responsive protein TIG1) (Tazarotene-induced gene 1 protein)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; negative regulation of cell proliferation [GO:0008285]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=P49788-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=1; IsoId=P49788-2; Sequence=VSP_010697, VSP_010698; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:21303978}; Single-pass type III membrane protein {ECO:0000269|PubMed:21303978}.


uniprotID: Q9BZD7
geneSymbol: PRRG3
length: 231
go: ENSG00000130032;
snps: rs4323608
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Transmembrane gamma-carboxyglutamic acid protein 3 (Proline-rich gamma-carboxyglutamic acid protein 3) (Proline-rich Gla protein 3)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]


uniprotID: Q04725
geneSymbol: TLE2
reactome: R-HSA-201722;R-HSA-2122947;R-HSA-3769402;R-HSA-4641265;
name: Transducin-like enhancer protein 2 (Enhancer of split groucho-like protein 2) (ESG2)
length: 743
go: ENSG00000065717;
snps: rs199788562
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
extracellular space [GO:0005615]; focal adhesion [GO:0005925]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; repressing transcription factor binding [GO:0070491]; transcription corepressor activity [GO:0003714]; animal organ morphogenesis [GO:0009887]; beta-catenin-TCF complex assembly [GO:1904837]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of transcription, DNA-templated [GO:0045892]; signal transduction [GO:0007165]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q04725-1; Sequence=Displayed; Name=2; IsoId=Q04725-2; Sequence=VSP_045693, VSP_045694; Note=No experimental confirmation available.; Name=3; IsoId=Q04725-3; Sequence=VSP_046162, VSP_046163, VSP_046164; Note=No experimental confirmation available.; 


uniprotID: Q8NBT3
geneSymbol: TMEM145
name: Transmembrane protein 145
length: 493
go: ENSG00000167619;
snps: rs7254227
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; G protein-coupled receptor signaling pathway [GO:0007186]; response to pheromone [GO:0019236]


uniprotID: Q9Y2C9
geneSymbol: TLR6
reactome: R-HSA-1236974;R-HSA-166058;R-HSA-168188;R-HSA-5602498;R-HSA-5603041;R-HSA-5686938;
pdb: 4OM7;
name: Toll-like receptor 6 (CD antigen CD286)
length: 796
go: ENSG00000174130;
sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; membrane raft [GO:0045121]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; Toll-like receptor 2-Toll-like receptor 6 protein complex [GO:0035355]; identical protein binding [GO:0042802]; lipopeptide binding [GO:0071723]; protein heterodimerization activity [GO:0046982]; signaling receptor activity [GO:0038023]; signaling receptor binding [GO:0005102]; Toll-like receptor 2 binding [GO:0035663]; transmembrane signaling receptor activity [GO:0004888]; activation of NF-kappaB-inducing kinase activity [GO:0007250]; cell activation [GO:0001775]; cellular response to amyloid-beta [GO:1904646]; cellular response to diacyl bacterial lipopeptide [GO:0071726]; cellular response to oxidised low-density lipoprotein particle stimulus [GO:0140052]; defense response to bacterium [GO:0042742]; detection of diacyl bacterial lipopeptide [GO:0042496]; immune response [GO:0006955]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-1 beta secretion [GO:0050702]; microglial cell activation [GO:0001774]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of interleukin-8 secretion [GO:2000483]; negative regulation of toll-like receptor 2 signaling pathway [GO:0034136]; nitric oxide metabolic process [GO:0046209]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]; positive regulation of gene expression [GO:0010628]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-6 biosynthetic process [GO:0045410]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of macrophage activation [GO:0043032]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of NLRP3 inflammasome complex assembly [GO:1900227]; positive regulation of oxidative stress-induced neuron death [GO:1903223]; positive regulation of reactive oxygen species biosynthetic process [GO:1903428]; signal transduction [GO:0007165]; toll-like receptor 6 signaling pathway [GO:0034150]; toll-like receptor signaling pathway [GO:0002224]; toll-like receptor TLR6:TLR2 signaling pathway [GO:0038124]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]

snps:
rs5743808 rs137853178 rs5743809 rs137853180 rs137853179 rs35220466 rs5743810 rs137853181 rs3796508 rs5743813 rs5743815 rs137853182 rs5743816 rs5743817 rs75244616 rs114855575 rs137853183 rs5743822 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2C9-1; Sequence=Displayed; Name=2; IsoId=Q9Y2C9-2; Sequence=VSP_056851; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20037584}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:Q9EPW9}; Single-pass type I membrane protein {ECO:0000255}. Membrane raft {ECO:0000269|PubMed:16880211}. Golgi apparatus {ECO:0000269|PubMed:16880211}. Note=Upon complex formation with CD36 and TLR4, internalized through dynamin-dependent endocytosis. Does not reside in lipid rafts before stimulation but accumulates increasingly in the raft upon the presence of the microbial ligand. In response to diacylated lipoproteins, TLR2:TLR6 heterodimers are recruited in lipid rafts, this recruitment determine the intracellular targeting to the Golgi apparatus (PubMed:16880211). {ECO:0000269|PubMed:16880211, ECO:0000269|PubMed:20037584}.


uniprotID: P31483
geneSymbol: TIA1
reactome: R-HSA-6803529;
pdb: 2MJN;3BS9;5ITH;5O2V;5O3J;
length: 386
go: ENSG00000116001;
snps: rs747068278
name:
Nucleolysin TIA-1 isoform p40 (RNA-binding protein TIA-1) (T-cell-restricted intracellular antigen-1) (TIA-1) (p40-TIA-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; nuclear stress granule [GO:0097165]; nucleoplasm [GO:0005654]; AU-rich element binding [GO:0017091]; poly(A) binding [GO:0008143]; RNA binding [GO:0003723]; apoptotic process [GO:0006915]; fibroblast growth factor receptor signaling pathway [GO:0008543]; negative regulation of cytokine biosynthetic process [GO:0042036]; negative regulation of translation [GO:0017148]; positive regulation of epithelial cell apoptotic process [GO:1904037]; protein localization to cytoplasmic stress granule [GO:1903608]; regulation of mRNA splicing, via spliceosome [GO:0048024]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=P31483-1; Sequence=Displayed; Name=Short; IsoId=P31483-2; Sequence=VSP_005892; Name=3; IsoId=P31483-3; Sequence=VSP_057403, VSP_057404; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, Stress granule {ECO:0000269|PubMed:15371533}. Nucleus {ECO:0000269|PubMed:15371533, ECO:0000305|PubMed:18201561}. Note=Accumulates in cytoplasmic stress granules (SG) following cellular damage. {ECO:0000269|PubMed:15371533}.


uniprotID: Q96HH6
geneSymbol: TMEM19
name: Transmembrane protein 19
length: 336
go: ENSG00000139291;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96HH6-1; Sequence=Displayed; Name=2; IsoId=Q96HH6-2; Sequence=VSP_024659, VSP_024660; Note=No experimental confirmation available.; 


uniprotID: Q96CP7
geneSymbol: TLCD1
name: Calfacilitin (TLC domain-containing protein 1)
length: 247
go: ENSG00000160606;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96CP7-1; Sequence=Displayed; Name=2; IsoId=Q96CP7-2; Sequence=VSP_055726; Note=Gene prediction based on EST data.; 


uniprotID: A0A1W2PP97
geneSymbol: THSD8
name: Thrombospondin type-1 domain-containing protein 8
length: 115
sequence:
MARTPGALLLAPLLLLQLATPALVYQDYQYLGQQGEGDSWEQLRLQHLKEVEDSILGPWGKWRCLCDLGKQERSREVVGTAPGPVFMDPEKLIQLRPCRQRDCPSCKPFDCDWRL


uniprotID: A6NGC4
geneSymbol: TLCD2
name: TLC domain-containing protein 2
length: 264
go: ENSG00000185561;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8N0U2
geneSymbol: TMEM61
name: Transmembrane protein 61
length: 210
go: ENSG00000143001;
opentargets: integral component of membrane [GO:0016021]
snps: rs3737832
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: O15040
geneSymbol: TECPR2
length: 1411
go: ENSG00000196663;
opentargets: autophagy [GO:0006914]
snps: rs1309353 rs11845676 rs2273906 rs10149146
name:
Tectonin beta-propeller repeat-containing protein 2 (WD repeat-containing protein KIAA0329/KIAA0297)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15040-1; Sequence=Displayed; Name=2; IsoId=O15040-2; Sequence=VSP_044793, VSP_044794; Note=No experimental confirmation available.; 


uniprotID: Q8TDR4
geneSymbol: TCP10L
name: T-complex protein 10A homolog 1 (T-complex protein 10A-1) (TCP10A-1) (TCP10-like)
length: 215
go: ENSG00000242220;
snps: rs9622 rs16989521
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14586771, ECO:0000269|PubMed:15910542}.
sequence:

opentargets:
nucleus [GO:0005634]; identical protein binding [GO:0042802]; protein self-association [GO:0043621]; repressing transcription factor binding [GO:0070491]; transcription corepressor activity [GO:0003714]; negative regulation of transcription by RNA polymerase II [GO:0000122]


uniprotID: P05452
geneSymbol: CLEC3B
reactome: R-HSA-114608;
pdb: 1HTN;1RJH;1TN3;3L9J;
name: Tetranectin (TN) (C-type lectin domain family 3 member B) (Plasminogen kringle 4-binding protein)
length: 202
go: ENSG00000163815;
drug: DB00031;
snps: rs13963
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; granular component [GO:0001652]; platelet dense granule lumen [GO:0031089]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; heparin binding [GO:0008201]; kringle domain binding [GO:0036143]; bone mineralization [GO:0030282]; cellular response to organic substance [GO:0071310]; cellular response to transforming growth factor beta stimulus [GO:0071560]; ossification [GO:0001503]; platelet degranulation [GO:0002576]; positive regulation of plasminogen activation [GO:0010756]


uniprotID: P10646
geneSymbol: TFPI
reactome: R-HSA-140834;
pdb: 1ADZ;1IRH;1TFX;4BQD;4DTG;5NMV;
length: 304
go: ENSG00000003436;
drug: DB00036;DB06779;
snps: rs5940
name:
Tissue factor pathway inhibitor (TFPI) (Extrinsic pathway inhibitor) (EPI) (Lipoprotein-associated coagulation inhibitor) (LACI)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; caveola [GO:0005901]; cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; organelle membrane [GO:0031090]; plasma membrane [GO:0005886]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase inhibitor activity [GO:0004867]; blood coagulation [GO:0007596]; blood coagulation, extrinsic pathway [GO:0007598]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to steroid hormone stimulus [GO:0071383]; negative regulation of blood coagulation [GO:0030195]; response to estradiol [GO:0032355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Alpha; Synonyms=TFPIalpha; IsoId=P10646-1; Sequence=Displayed; Name=Beta; Synonyms=TFPIbeta; IsoId=P10646-2; Sequence=VSP_003030, VSP_003031; Note=GPI-anchored.; 

location:
SUBCELLULAR LOCATION: Isoform Alpha: Secreted.; SUBCELLULAR LOCATION: Isoform Beta: Microsome membrane {ECO:0000269|PubMed:22144186}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:22144186}.


uniprotID: Q8IUE1
geneSymbol: TGIF2LX
pdb: 2DMN;
length: 241
go: ENSG00000153779;
snps: rs2290380
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
name:
Homeobox protein TGIF2LX (TGF-beta-induced transcription factor 2-like protein) (TGFB-induced factor 2-like protein, X-linked) (TGIF-like on the X)

sequence:


uniprotID: Q8IUE0
geneSymbol: TGIF2LY
length: 185
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
name:
Homeobox protein TGIF2LY (TGF-beta-induced transcription factor 2-like protein) (TGFB-induced factor 2-like protein, Y-linked) (TGIF-like on the Y)

sequence:
MEAAADGPAETQSPVEKDSPAKTQSPAQDTSIMSRNNADTGRVLALPEHKKKRKGNLPAESVKILRDWMYKHRFKAYPSEEEKQMLSEKTNLSLLRISNWFINARRRILPDMLQQRRNDPIIGHKTGKDAHATHLQSTEASVPAKSGPVVQTMYKACPCGPCQRARCQERSNQIRSRPLARSSPE


uniprotID: Q9Y6L7
geneSymbol: TLL2
reactome: R-HSA-1474228;R-HSA-1650814;R-HSA-2214320;R-HSA-2243919;
name: Tolloid-like protein 2 (EC 3.4.24.-)
length: 1015
go: ENSG00000095587;
drug: DB01989;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; metalloendopeptidase activity [GO:0004222]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; cell differentiation [GO:0030154]; extracellular matrix disassembly [GO:0022617]; multicellular organism development [GO:0007275]; negative regulation of skeletal muscle tissue growth [GO:0048632]


uniprotID: P29401
geneSymbol: TKT
reactome: R-HSA-163754;R-HSA-71336;
pdb: 3MOS;3OOY;4KXU;4KXV;4KXW;4KXX;4KXY;
name: Transketolase (TK) (EC 2.2.1.1)
length: 623
go: ENSG00000163931;
snps: rs17052920 rs782092363
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; myelin sheath [GO:0043209]; nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; peroxisome [GO:0005777]; vesicle [GO:0031982]; cofactor binding [GO:0048037]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; transketolase activity [GO:0004802]; glyceraldehyde-3-phosphate biosynthetic process [GO:0046166]; pentose-phosphate shunt [GO:0006098]; pentose-phosphate shunt, non-oxidative branch [GO:0009052]; regulation of growth [GO:0040008]; xylulose biosynthetic process [GO:0005999]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P29401-1; Sequence=Displayed; Name=2; IsoId=P29401-2; Sequence=VSP_045566; Note=No experimental confirmation available.; 


uniprotID: Q8N661
geneSymbol: TMEM86B
reactome: R-HSA-1482788;
name: Lysoplasmalogenase (EC 3.3.2.2) (Transmembrane protein 86B)
length: 226
go: ENSG00000180089;
snps: rs35608872 rs4644955
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; alkenylglycerophosphocholine hydrolase activity [GO:0047408]; alkenylglycerophosphoethanolamine hydrolase activity [GO:0047409]; ether hydrolase activity [GO:0016803]; ether lipid metabolic process [GO:0046485]; phosphatidylcholine acyl-chain remodeling [GO:0036151]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:21515882}.


uniprotID: Q9BRN9
geneSymbol: TM2D3
name: TM2 domain-containing protein 3 (Beta-amyloid-binding protein-like protein 2) (BBP-like protein 2)
length: 247
go: ENSG00000184277;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRN9-1; Sequence=Displayed; Name=2; IsoId=Q9BRN9-2; Sequence=VSP_027496; 


uniprotID: Q9NXG2
geneSymbol: THUMPD1
reactome: R-HSA-6790901;
pdb: 2DIR;
name: THUMP domain-containing protein 1
length: 353
go: ENSG00000066654;
snps: rs11074471
sequence:

opentargets:
nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; rRNA modification [GO:0000154]; tRNA modification [GO:0006400]


uniprotID: A0PJX8
geneSymbol: TMEM82
name: Transmembrane protein 82
length: 343
go: ENSG00000162460;
opentargets: integral component of membrane [GO:0016021]
snps: rs11580250
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q14656
geneSymbol: TMEM187
name: Transmembrane protein 187 (Protein ITBA1)
length: 261
go: ENSG00000177854;
opentargets: integral component of membrane [GO:0016021]; transport vesicle [GO:0030133]
snps: rs2266890 rs7350355 rs36085378
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6PL24
geneSymbol: TMED8
name: Protein TMED8
length: 325
go: ENSG00000100580;
snps: rs3742737
sequence:


uniprotID: A6NKF7
geneSymbol: TMEM88B
name: Transmembrane protein 88B
length: 163
go: ENSG00000205116;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MSEQGRETEEEEGGGGASDTAPMLPRGPPDHQASALTCPGWSGPPLLPGRLLAGLLLHLLLPAAAFLLVLLPAAAVVYLGFLCHSRVHPAPGPRCRALFSDRGSAALIVFGLLSLPPLLVLASAVRARLARRLRPLLPPPAGTPGPRRPPGRPDEDEQLCAWV

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; PDZ domain binding [GO:0030165]


uniprotID: Q8TBZ6
geneSymbol: TRMT10A
reactome: R-HSA-6782315;
pdb: 4FMW;
length: 339
go: ENSG00000145331;
snps: rs10007569 rs587777744
name:
tRNA methyltransferase 10 homolog A (EC 2.1.1.221) (RNA (guanine-9-)-methyltransferase domain-containing protein 2) (tRNA (guanine(9)-N(1))-methyltransferase TRMT10A)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]; tRNA (guanine(9)-N(1))-methyltransferase activity [GO:0052905]; tRNA (guanine-N1-)-methyltransferase activity [GO:0009019]; tRNA binding [GO:0000049]; tRNA methylation [GO:0030488]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24204302}. Nucleus, nucleolus {ECO:0000269|PubMed:24204302}.


uniprotID: P82094
geneSymbol: TMF1
reactome: R-HSA-6811440;
length: 1093
go: ENSG00000144747;
snps: rs35447207 rs34428015 rs3736422 rs1532918
name:
TATA element modulatory factor (TMF) (Androgen receptor coactivator 160 kDa protein) (Androgen receptor-associated protein of 160 kDa)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; nucleus [GO:0005634]; DNA binding [GO:0003677]; transcription coregulator activity [GO:0003712]; acrosome assembly [GO:0001675]; cellular response to organic cyclic compound [GO:0071407]; defense response to bacterium [GO:0042742]; flagellated sperm motility [GO:0030317]; Leydig cell differentiation [GO:0033327]; luteinizing hormone secretion [GO:0032275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of gene expression [GO:0010629]; positive regulation of cytokine production [GO:0001819]; positive regulation of testosterone secretion [GO:2000845]; regulation of proteasomal protein catabolic process [GO:0061136]; regulation of transcription, DNA-templated [GO:0006355]; spermatid nucleus differentiation [GO:0007289]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P82094-1; Sequence=Displayed; Name=2; IsoId=P82094-2; Sequence=VSP_037411; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Golgi apparatus membrane. Note=Concentrated at the budding structures localized at the tips of cisternae.


uniprotID: Q9Y5J9
geneSymbol: TIMM8B
reactome: R-HSA-1268020;
sequence: MAELGEADEAELQRLVAAEQQKAQFTAQVHHFMELCWDKCVEKPGNRLDSRTENCLSSCVDRFIDTTLAITSRFAQIVQKGGQ
length: 83
go: ENSG00000150779;
name:
Mitochondrial import inner membrane translocase subunit Tim8 B (DDP-like protein) (Deafness dystonia protein 2)

opentargets:
extracellular space [GO:0005615]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space protein transporter complex [GO:0042719]; zinc ion binding [GO:0008270]; chaperone-mediated protein transport [GO:0072321]; protein targeting to mitochondrion [GO:0006626]; sensory perception of sound [GO:0007605]

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


uniprotID: Q6QAJ8
geneSymbol: TMEM220
name: Transmembrane protein 220
length: 160
go: ENSG00000187824;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MAPALWRACNGLMAAFFALAALVQVNDPDAEVWVVVYTIPAVLTLLVGLNPEVTGNVIWKSISAIHILFCTVWAVGLASYLLHRTQQNILHEEEGRELSGLVIITAWIILCHSSSKNPVGGRIQLAIAIVITLFPFISWVYIYINKEMRSSWPTHCKTVI

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6QAJ8-1; Sequence=Displayed; Name=2; IsoId=Q6QAJ8-2; Sequence=VSP_031477; 


uniprotID: Q9Y490
geneSymbol: TLN1
pdb: 1SYQ;2MWN;4DJ9;
name: Talin-1
length: 2541
go: ENSG00000137076;
snps: rs2295795 rs17854239 rs35642290
reactome:
R-HSA-114608;R-HSA-354192;R-HSA-354194;R-HSA-372708;R-HSA-381038;R-HSA-399955;R-HSA-445355;R-HSA-5674135;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

sequence:

opentargets:
cell surface [GO:0009986]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; ruffle [GO:0001726]; ruffle membrane [GO:0032587]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; integrin binding [GO:0005178]; LIM domain binding [GO:0030274]; phosphatidylinositol binding [GO:0035091]; phosphatidylserine binding [GO:0001786]; structural constituent of cytoskeleton [GO:0005200]; vinculin binding [GO:0017166]; cell-cell junction assembly [GO:0007043]; cell-substrate junction assembly [GO:0007044]; cortical actin cytoskeleton organization [GO:0030866]; cytoskeletal anchoring at plasma membrane [GO:0007016]; integrin activation [GO:0033622]; integrin-mediated signaling pathway [GO:0007229]; IRE1-mediated unfolded protein response [GO:0036498]; muscle contraction [GO:0006936]; platelet aggregation [GO:0070527]; platelet degranulation [GO:0002576]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cell projection, ruffle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell surface {ECO:0000250|UniProtKB:P26039}. Cell junction, focal adhesion {ECO:0000250|UniProtKB:P26039}. Note=Colocalizes with LAYN at the membrane ruffles. Localized preferentially in focal adhesions than fibrillar adhesions (By similarity). {ECO:0000250}.


uniprotID: Q8TDI8
geneSymbol: TMC1
name: Transmembrane channel-like protein 1 (Transmembrane cochlear-expressed protein 1)
length: 760
go: ENSG00000165091;
snps: rs1796993 rs11143384 rs17058153 rs121908072 rs121908074
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; stereocilium tip [GO:0032426]; ion channel activity [GO:0005216]; mechanosensitive ion channel activity [GO:0008381]; voltage-gated calcium channel activity [GO:0005245]; auditory receptor cell development [GO:0060117]; detection of mechanical stimulus involved in sensory perception of sound [GO:0050910]; regulation of calcium ion transmembrane transport [GO:1903169]; vestibular reflex [GO:0060005]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8R4P5}; Multi-pass membrane protein {ECO:0000305}. Note=Localized to the stereocilia of the cochlear hair cells. {ECO:0000250|UniProtKB:Q8R4P5}.


uniprotID: Q8IY95
geneSymbol: TMEM192
name: Transmembrane protein 192
length: 271
go: ENSG00000170088;
sequence:

opentargets:
endosome [GO:0005768]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; protein homodimerization activity [GO:0042803]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IY95-1; Sequence=Displayed; Name=2; IsoId=Q8IY95-2; Sequence=VSP_029502; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:20370317}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319}. Late endosome {ECO:0000269|PubMed:20370317}.


uniprotID: O60220
geneSymbol: TIMM8A
reactome: R-HSA-1268020;
sequence: MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWEKCMDKPGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSKPVFSESLSD
length: 97
go: ENSG00000126953;
snps: rs80356560
name:
Mitochondrial import inner membrane translocase subunit Tim8 A (Deafness dystonia protein 1) (X-linked deafness dystonia protein)

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; metal ion binding [GO:0046872]; chaperone-mediated protein transport [GO:0072321]; nervous system development [GO:0007399]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11489896}; Peripheral membrane protein {ECO:0000269|PubMed:11489896}; Intermembrane side {ECO:0000269|PubMed:11489896}.


uniprotID: Q96K49
geneSymbol: TMEM87B
name: Transmembrane protein 87B
length: 555
go: ENSG00000153214;
snps: rs369634007
sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96K49-1; Sequence=Displayed; Name=2; IsoId=Q96K49-2; Sequence=VSP_026219; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305|PubMed:26157166}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q6GV28
geneSymbol: TMEM225
name: Transmembrane protein 225
length: 225
snps: rs10893099 rs1939927
sequence:

opentargets:
acrosomal membrane [GO:0002080]; integral component of membrane [GO:0016021]; negative regulation of phosphatase activity [GO:0010923]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome membrane {ECO:0000250|UniProtKB:Q9D9S2}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q8WUH6
geneSymbol: TMEM263
name: Transmembrane protein 263
length: 116
go: ENSG00000151135;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MNQTDKNQQEIPSYLNDEPPEGSMKDHPQQQPGMLSRVTGGIFSVTKGAVGATIGGVAWIGGKSLEVTKTAVTTVPSMGIGLVKGGVSAVAGGVTAVGSAVVNKVPLTGKKKDKSD


uniprotID: P56557
geneSymbol: TMEM50B
name: Transmembrane protein 50B (HCV p7-trans-regulated protein 3)
length: 158
go: ENSG00000142188;
sequence:
MAGFLDNFRWPECECIDWSERRNAVASVVAGILFFTGWWIMIDAAVVYPKPEQLNHAFHTCGVFSTLAFFMINAVSNAQVRGDSYESGCLGRTGARVWLFIGFMLMFGSLIASMWILFGAYVTQNTDVYPGLAVFFQNALIFFSTLIYKFGRTEELWT

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; late endosome to vacuole transport via multivesicular body sorting pathway [GO:0032511]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9D1X9}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9D1X9}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q96MH6
geneSymbol: TMEM68
name: Transmembrane protein 68
length: 324
go: ENSG00000167904;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; transferase activity, transferring acyl groups [GO:0016746]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96MH6-1; Sequence=Displayed; Name=2; IsoId=Q96MH6-2; Sequence=VSP_021246; Name=3; IsoId=Q96MH6-3; Sequence=VSP_021244, VSP_021245; 


uniprotID: Q9BSN7
geneSymbol: TMEM204
name: Transmembrane protein 204 (Claudin-like protein 24)
length: 226
go: ENSG00000131634;
snps: rs1057612
sequence:

opentargets:
adherens junction [GO:0005912]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; lymph vessel development [GO:0001945]; regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030947]; smooth muscle cell differentiation [GO:0051145]

location:
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000269|PubMed:15206924}. Cell membrane {ECO:0000269|PubMed:15206924}; Multi-pass membrane protein {ECO:0000269|PubMed:15206924}. Note=Colocalizes with the beta-catenin adherins.


uniprotID: Q86WS5
geneSymbol: TMPRSS12
name: Transmembrane protease serine 12 (EC 3.4.21.-)
length: 348
go: ENSG00000186452;
opentargets: integral component of membrane [GO:0016021]; serine-type endopeptidase activity [GO:0004252]
snps: rs10876100 rs829121 rs861204
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q5JTV8
geneSymbol: TOR1AIP1
pdb: 4TVS;
name: Torsin-1A-interacting protein 1 (Lamin-associated protein 1B) (LAP1B)
length: 583
go: ENSG00000143337;
snps: rs1281378 rs775134055 rs609521 rs17279712
sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear inner membrane [GO:0005637]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; ATPase activator activity [GO:0001671]; ATPase binding [GO:0051117]; cytoskeletal protein binding [GO:0008092]; lamin binding [GO:0005521]; nuclear membrane organization [GO:0071763]; positive regulation of ATPase activity [GO:0032781]; protein localization to nucleus [GO:0034504]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JTV8-1; Sequence=Displayed; Name=2; IsoId=Q5JTV8-2; Sequence=VSP_055704, VSP_055705; Note=No experimental confirmation available.; Name=3; IsoId=Q5JTV8-3; Sequence=VSP_055704; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000269|PubMed:12061773, ECO:0000269|PubMed:24275647}; Single-pass membrane protein {ECO:0000269|PubMed:12061773, ECO:0000269|PubMed:24275647}.


uniprotID: Q9BVV7
geneSymbol: TIMM21
reactome: R-HSA-1268020;
name: Mitochondrial import inner membrane translocase subunit Tim21 (TIM21-like protein, mitochondrial)
length: 248
go: ENSG00000075336;
snps: rs3737512
sequence:

opentargets:
integral component of membrane [GO:0016021]; TIM23 mitochondrial import inner membrane translocase complex [GO:0005744]; mitochondrial respiratory chain complex I assembly [GO:0032981]; mitochondrial respiratory chain complex IV assembly [GO:0033617]; protein import into mitochondrial matrix [GO:0030150]

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


uniprotID: Q6ZNR0
geneSymbol: TMEM91
name: Transmembrane protein 91 (Dispanin subfamily C member 3) (DSPC3)
length: 172
go: ENSG00000142046;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MDSPSLRELQQPLLEGTECETPAQKPGRHELGSPLREIAFAESLRGLQFLSPPLPSVSAGLGEPRPPDVEDMSSSDSDSDWDGGSRLSPFLPHDHLGLAVFSMLCCFWPVGIAAFCLAQKTNKAWAKGDIQGAGAASRRAFLLGVLAVGLGVCTYAAALVTLAAYLASRDPP

opentargets:
integral component of membrane [GO:0016021]; hematopoietic progenitor cell differentiation [GO:0002244]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6ZNR0-1; Sequence=Displayed; Name=2; IsoId=Q6ZNR0-2; Sequence=VSP_042819; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZNR0-3; Sequence=VSP_045717; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZNR0-4; Sequence=VSP_047211; Note=No experimental confirmation available.; Name=5; IsoId=Q6ZNR0-5; Sequence=VSP_047212; Note=No experimental confirmation available.; 


uniprotID: Q01085
geneSymbol: TIAL1
reactome: R-HSA-6803529;
pdb: 1X4G;2CQI;2DH7;
name: Nucleolysin TIAR (TIA-1-related protein)
length: 375
go: ENSG00000151923;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; lysosome [GO:0005764]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; AU-rich element binding [GO:0017091]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; apoptotic process [GO:0006915]; defense response [GO:0006952]; fibroblast growth factor receptor signaling pathway [GO:0008543]; germ cell development [GO:0007281]; positive regulation of cell proliferation [GO:0008284]; regulation of transcription by RNA polymerase II [GO:0006357]; stem cell division [GO:0017145]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q01085-1; Sequence=Displayed; Name=2; IsoId=Q01085-2; Sequence=VSP_043700; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Cytoplasmic granule. Note=The cytoplasmic granules are stress granules which are a dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. Colocalizes with NANOS3 in the stress granules (By similarity). Cytoplasmic granules of cytolytic T-lymphocytes. {ECO:0000250}.


uniprotID: Q9NVV0
geneSymbol: TMEM38B
name: Trimeric intracellular cation channel type B (TRIC-B) (TRICB) (Transmembrane protein 38B)
length: 291
go: ENSG00000095209;
snps: rs35232724
sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; sarcoplasmic reticulum membrane [GO:0033017]; potassium channel activity [GO:0005267]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9DAV9}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9DAV9}.


uniprotID: Q9P016
geneSymbol: THYN1
pdb: 3EOP;5J3E;
name: Thymocyte nuclear protein 1 (Thymocyte protein Thy28)
length: 225
go: ENSG00000151500;
opentargets: nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P016-1; Sequence=Displayed; Name=2; IsoId=Q9P016-2; Sequence=VSP_021789; 


uniprotID: Q8WZ71
geneSymbol: TMEM158
name: Transmembrane protein 158 (40 kDa BINP-binding protein) (p40BBP) (Ras-induced senescence protein 1)
length: 300
go: ENSG00000249992;
opentargets: integral component of membrane [GO:0016021]; peptide binding [GO:0042277]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WZ71-1; Sequence=Displayed; Name=2; IsoId=Q8WZ71-2; Sequence=VSP_024826; Note=No experimental confirmation available.; 


uniprotID: O14788
geneSymbol: TNFSF11
reactome: R-HSA-5668541;R-HSA-5669034;R-HSA-5676594;
pdb: 3URF;5BNQ;
length: 317
go: ENSG00000120659;
drug: DB06643;DB00480;DB11582;
snps: rs121909072
name:
Tumor necrosis factor ligand superfamily member 11 (Osteoclast differentiation factor) (ODF) (Osteoprotegerin ligand) (OPGL) (Receptor activator of nuclear factor kappa-B ligand) (RANKL) (TNF-related activation-induced cytokine) (TRANCE) (CD antigen CD254) [Cleaved into: Tumor necrosis factor ligand superfamily member 11, membrane form; Tumor necrosis factor ligand superfamily member 11, soluble form]

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cytokine activity [GO:0005125]; tumor necrosis factor receptor binding [GO:0005164]; tumor necrosis factor receptor superfamily binding [GO:0032813]; activation of JUN kinase activity [GO:0007257]; bone resorption [GO:0045453]; calcium ion homeostasis [GO:0055074]; calcium-mediated signaling [GO:0019722]; cellular response to leukemia inhibitory factor [GO:1990830]; cytokine-mediated signaling pathway [GO:0019221]; ERK1 and ERK2 cascade [GO:0070371]; immune response [GO:0006955]; mammary gland alveolus development [GO:0060749]; mammary gland epithelial cell proliferation [GO:0033598]; monocyte chemotaxis [GO:0002548]; ossification [GO:0001503]; osteoclast development [GO:0036035]; osteoclast differentiation [GO:0030316]; osteoclast proliferation [GO:0002158]; paracrine signaling [GO:0038001]; positive regulation of bone resorption [GO:0045780]; positive regulation of corticotropin-releasing hormone secretion [GO:0051466]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling [GO:0071848]; positive regulation of fever generation by positive regulation of prostaglandin secretion [GO:0071812]; positive regulation of homotypic cell-cell adhesion [GO:0034112]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of intracellular signal transduction [GO:1902533]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of osteoclast development [GO:2001206]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of T cell activation [GO:0050870]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein homooligomerization [GO:0051260]; TNFSF11-mediated signaling pathway [GO:0071847]; tooth eruption [GO:0044691]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O14788-1; Sequence=Displayed; Name=2; Synonyms=SODF; IsoId=O14788-2; Sequence=VSP_006447; Name=3; IsoId=O14788-3; Sequence=VSP_006446; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000250}.; SUBCELLULAR LOCATION: Tumor necrosis factor ligand superfamily member 11, soluble form: Secreted {ECO:0000250}.


uniprotID: Q68D42
geneSymbol: TMEM215
name: Transmembrane protein 215
length: 235
go: ENSG00000188133;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q96NL1
geneSymbol: TMEM74
name: Transmembrane protein 74
length: 305
go: ENSG00000164841;
sequence:

opentargets:
autophagosome membrane [GO:0000421]; cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; macroautophagy [GO:0016236]

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:18294959}; Multi-pass membrane protein {ECO:0000269|PubMed:18294959}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000269|PubMed:18294959}; Multi-pass membrane protein {ECO:0000269|PubMed:18294959}.


uniprotID: Q8N9X5
geneSymbol: TMEM75
name: Putative transmembrane protein 75
length: 138
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:
MRPTADSFRLKKGNVFPNFDPCAQALQKSCHFALSFLIGKMGIIILSVCLICTRLLQEGIAQSKCLINVSFSLYSCFIVFVTISQDSETLSLDCDHRLFFSLPFTDPASGGQSQHSWPCPERSKNLPQVSKQLRNRAG


uniprotID: O14668
geneSymbol: PRRG1
length: 218
go: ENSG00000130962;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Transmembrane gamma-carboxyglutamic acid protein 1 (Proline-rich gamma-carboxyglutamic acid protein 1) (Proline-rich Gla protein 1)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14668-1; Sequence=Displayed; Name=2; IsoId=O14668-2; Sequence=VSP_044789, VSP_044790; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q7L0Y3
geneSymbol: TRMT10C
reactome: R-HSA-6785470;R-HSA-6787450;R-HSA-8868766;
pdb: 5NFJ;
length: 403
go: ENSG00000174173;
snps: rs3762735 rs16844031 rs199730889 rs875989831
name:
tRNA methyltransferase 10 homolog C (HBV pre-S2 trans-regulated protein 2) (Mitochondrial ribonuclease P protein 1) (Mitochondrial RNase P protein 1) (RNA (guanine-9-)-methyltransferase domain-containing protein 1) (Renal carcinoma antigen NY-REN-49) (mRNA methyladenosine-N(1)-methyltransferase) (EC 2.1.1.-) (tRNA (adenine(9)-N(1))-methyltransferase) (EC 2.1.1.218) (tRNA (guanine(9)-N(1))-methyltransferase) (EC 2.1.1.221)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrial ribonuclease P complex [GO:0030678]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; mRNA (adenine-N1-)-methyltransferase activity [GO:0061953]; RNA binding [GO:0003723]; tRNA (adenine-N1-)-methyltransferase activity [GO:0016429]; tRNA (guanine(9)-N(1))-methyltransferase activity [GO:0052905]; tRNA (guanine-N1-)-methyltransferase activity [GO:0009019]; tRNA binding [GO:0000049]; mitochondrial RNA 5'-end processing [GO:0000964]; mitochondrial tRNA 3'-end processing [GO:1990180]; mitochondrial tRNA 5'-end processing [GO:0097745]; mitochondrial tRNA processing [GO:0090646]; mRNA methylation [GO:0080009]; positive regulation of mitochondrial translation [GO:0070131]

location:
SUBCELLULAR LOCATION: Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:18984158, ECO:0000269|PubMed:23473034}.


uniprotID: O43508
geneSymbol: TNFSF12
reactome: R-HSA-5668541;R-HSA-5676594;
pdb: 4HT1;
length: 249
go: ENSG00000239697;ENSG00000248871;
name:
Tumor necrosis factor ligand superfamily member 12 (APO3 ligand) (TNF-related weak inducer of apoptosis) (TWEAK) [Cleaved into: Tumor necrosis factor ligand superfamily member 12, membrane form; Tumor necrosis factor ligand superfamily member 12, secreted form]

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; cytokine activity [GO:0005125]; signaling receptor binding [GO:0005102]; tumor necrosis factor receptor binding [GO:0005164]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; cell differentiation [GO:0030154]; endothelial cell migration [GO:0043542]; extrinsic apoptotic signaling pathway [GO:0097191]; immune response [GO:0006955]; positive regulation of angiogenesis [GO:0045766]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of protein catabolic process [GO:0045732]; signal transduction [GO:0007165]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43508-1; Sequence=Displayed; Name=TWE-PRIL; Synonyms=TNFSF12-TNFSF13; IsoId=O43508-2; Sequence=VSP_045245; Note=Based on a readthrough transcript which may produce a TWE-PRIL (TNFSF12-TNFSF13) fusion protein. Expressed at protein level in primary T-lymphocytes and monocytic cell lines.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12411489}; Single-pass type II membrane protein {ECO:0000269|PubMed:12411489}.; SUBCELLULAR LOCATION: Tumor necrosis factor ligand superfamily member 12, secreted form: Secreted.; SUBCELLULAR LOCATION: Isoform TWE-PRIL: Cell membrane; Single-pass membrane protein.


uniprotID: Q9BQJ4
geneSymbol: TMEM47
name: Transmembrane protein 47 (Brain cell membrane protein 1) (Transmembrane 4 superfamily member 10)
length: 181
go: ENSG00000147027;
sequence:
MASAGSGMEEVRVSVLTPLKLVGLVCIFLALCLDLGAVLSPAWVTADHQYYLSLWESCRKPASLDIWHCESTLSSDWQIATLALLLGGAAIILIAFLVGLISICVGSRRRFYRPVAVMLFAAVVLQVCSLVLYPIKFIETVSLKIYHEFNWGYGLAWGATIFSFGGAILYCLNPKNYEDYY

opentargets:
adherens junction [GO:0005912]; cell junction [GO:0030054]; cell-cell junction [GO:0005911]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q9XSV3}. Note=Colocalizes with FYB1 at cell-cell contacts in podocytes. {ECO:0000250|UniProtKB:Q9JJG6}.


uniprotID: Q9UM00
geneSymbol: TMCO1
length: 188
go: ENSG00000143183;
name:
Calcium load-activated calcium channel (CLAC channel) (Transmembrane and coiled-coil domain-containing protein 1) (Transmembrane and coiled-coil domains protein 4) (Xenogeneic cross-immune protein PCIA3)

sequence:
MSTMFADTLLIVFISVCTALLAEGITWVLVYRTDKYKRLKAEVEKQSKKLEKKKETITESAGRQQKKKIERQEEKLKNNNRDLSMVRMKSMFAIGFCFTALMGMFNSIFDGRVVAKLPFTPLSYIQGLSHRNLLGDDTTDCSFIFLYILCTMSIRQNIQKILGLAPSRAATKQAGGFLGPPPPSGKFS

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi membrane [GO:0000139]; integral component of endoplasmic reticulum membrane [GO:0030176]; calcium channel activity [GO:0005262]; calcium ion transmembrane transport [GO:0070588]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; ER overload response [GO:0006983]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UM00-1; Sequence=Displayed; Name=2; IsoId=Q9UM00-2; Sequence=VSP_019505; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10393320, ECO:0000269|PubMed:27212239}; Multi-pass membrane protein {ECO:0000269|PubMed:10393320, ECO:0000269|PubMed:27212239}. Golgi apparatus membrane {ECO:0000269|PubMed:10393320}; Multi-pass membrane protein {ECO:0000269|PubMed:10393320}. Note=The first transmembrane region is required for localization to the endoplasmic reticulum (PubMed:27212239). A publication reported localization in cytoplasm and nucleus (PubMed:22714896). Nuclear localization is however in contradiction with two other reports (PubMed:10393320, PubMed:27212239). {ECO:0000269|PubMed:10393320, ECO:0000269|PubMed:22714896, ECO:0000269|PubMed:27212239}.


uniprotID: P50616
geneSymbol: TOB1
pdb: 2D5R;2Z15;5CI8;5CI9;
name: Protein Tob1 (Transducer of erbB-2 1)
length: 345
go: ENSG00000141232;
snps: rs3316
sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; receptor tyrosine kinase binding [GO:0030971]; SH3/SH2 adaptor activity [GO:0005070]; SMAD binding [GO:0046332]; transcription corepressor activity [GO:0003714]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of cell proliferation [GO:0008285]; negative regulation of nuclear-transcribed mRNA poly(A) tail shortening [GO:0060212]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of translation [GO:0017148]; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:1900153]; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening [GO:0060213]; regulation of gene expression [GO:0010468]; regulation of SMAD protein signal transduction [GO:0060390]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Only a small fraction localizes to the cytoplasm except in late S-phase where more than half of proteins become cytoplasmic. {ECO:0000250}.


uniprotID: Q8IU68
geneSymbol: TMC8
name: Transmembrane channel-like protein 8 (Epidermodysplasia verruciformis protein 2)
length: 726
go: ENSG00000167895;
snps: rs7208422 rs11651675
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; nuclear membrane [GO:0031965]; ion channel activity [GO:0005216]; mechanosensitive ion channel activity [GO:0008381]; signaling receptor binding [GO:0005102]; negative regulation of protein binding [GO:0032091]; negative regulation of protein oligomerization [GO:0032460]; regulation of cell growth [GO:0001558]; regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902041]; zinc ion homeostasis [GO:0055069]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Large EVER2; IsoId=Q8IU68-1; Sequence=Displayed; Name=2; Synonyms=Small EVER2; IsoId=Q8IU68-2; Sequence=VSP_016448; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12426567}; Multi-pass membrane protein {ECO:0000269|PubMed:12426567}.


uniprotID: Q6ZP80
geneSymbol: TMEM182
name: Transmembrane protein 182
length: 229
go: ENSG00000170417;
opentargets: integral component of membrane [GO:0016021]
snps: rs887987
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZP80-1; Sequence=Displayed; Name=2; IsoId=Q6ZP80-2; Sequence=VSP_026135; Name=3; IsoId=Q6ZP80-3; Sequence=VSP_026134; Note=No experimental confirmation available.; 


uniprotID: Q9UKE5
geneSymbol: TNIK
reactome: R-HSA-2559580;
pdb: 2X7F;5AX9;5CWZ;5D7A;
name: TRAF2 and NCK-interacting protein kinase (EC 2.7.11.1)
length: 1360
go: ENSG00000154310;
snps: rs55778284 rs35090763 rs17857452
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; postsynaptic density, intracellular component [GO:0099092]; presynapse [GO:0098793]; recycling endosome [GO:0055037]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; actin cytoskeleton reorganization [GO:0031532]; activation of JNKK activity [GO:0007256]; activation of protein kinase activity [GO:0032147]; cytoskeleton organization [GO:0007010]; intracellular signal transduction [GO:0035556]; MAPK cascade [GO:0000165]; microvillus assembly [GO:0030033]; neuron projection morphogenesis [GO:0048812]; positive regulation of protein phosphorylation [GO:0001934]; protein autophosphorylation [GO:0046777]; protein localization to plasma membrane [GO:0072659]; protein phosphorylation [GO:0006468]; regulation of dendrite morphogenesis [GO:0048814]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q9UKE5-1; Sequence=Displayed; Name=2; IsoId=Q9UKE5-2; Sequence=VSP_004889; Name=3; IsoId=Q9UKE5-3; Sequence=VSP_004890; Name=4; IsoId=Q9UKE5-4; Sequence=VSP_004891; Name=5; IsoId=Q9UKE5-5; Sequence=VSP_004889, VSP_004890; Name=6; IsoId=Q9UKE5-6; Sequence=VSP_004889, VSP_004891; Name=7; IsoId=Q9UKE5-7; Sequence=VSP_004890, VSP_004891; Name=8; IsoId=Q9UKE5-8; Sequence=VSP_004889, VSP_004890, VSP_004891; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Recycling endosome. Cytoplasm, cytoskeleton. Note=Associated with recycling endosomes and the cytoskeletal fraction upon RAP2A overexpression.


uniprotID: Q12767
geneSymbol: TMEM94
name: Transmembrane protein 94
length: 1356
go: ENSG00000177728;
opentargets: integral component of membrane [GO:0016021]
snps: rs8073809
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12767-1; Sequence=Displayed; Name=2; IsoId=Q12767-2; Sequence=VSP_011043; Note=No experimental confirmation available.; 


uniprotID: Q7Z2Z1
geneSymbol: TICRR
length: 1910
go: ENSG00000140534;
snps: rs10775247 rs11629584 rs3743372 rs12905387 rs16943377 rs894157 rs1866928 rs3743372
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20080954}. Note=Associates with chromatin.
name:
Treslin (TopBP1-interacting checkpoint and replication regulator) (TopBP1-interacting, replication-stimulating protein)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; formation of translation preinitiation complex [GO:0001731]; mitotic cell cycle checkpoint [GO:0007093]; mitotic DNA replication checkpoint [GO:0033314]; regulation of DNA-dependent DNA replication initiation [GO:0030174]; response to ionizing radiation [GO:0010212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z2Z1-1; Sequence=Displayed; Name=2; IsoId=Q7Z2Z1-2; Sequence=VSP_039218; 


uniprotID: Q96BF3
geneSymbol: TMIGD2
length: 282
go: ENSG00000167664;
snps: rs58237134 rs28477168
name:
Transmembrane and immunoglobulin domain-containing protein 2 (CD28 homolog) (Immunoglobulin and proline-rich receptor 1) (IGPR-1)

sequence:

opentargets:
extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; coreceptor activity [GO:0015026]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cytokine production [GO:0001819]; T cell costimulation [GO:0031295]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96BF3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96BF3-2; Sequence=VSP_022967; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22419821}; Single-pass type I membrane protein {ECO:0000269|PubMed:22419821}.


uniprotID: Q53EQ6
geneSymbol: TIGD5
name: Tigger transposable element-derived protein 5
length: 642
go: ENSG00000179886;
snps: rs10282929
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
actin cortical patch [GO:0030479]; actin filament [GO:0005884]; nucleus [GO:0005634]; actin filament binding [GO:0051015]; DNA binding [GO:0003677]; actin cortical patch assembly [GO:0000147]; actin cortical patch localization [GO:0051666]; actin filament-based movement [GO:0030048]; endocytosis [GO:0006897]; positive regulation of actin nucleation [GO:0051127]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53EQ6-1; Sequence=Displayed; Name=2; IsoId=Q53EQ6-2; Sequence=VSP_042796; 


uniprotID: Q9HAV5
geneSymbol: EDA2R
reactome: R-HSA-5669034;
length: 297
go: ENSG00000131080;
snps: rs1385699 rs1385698
location: SUBCELLULAR LOCATION: Membrane; Single-pass type III membrane protein.
name:
Tumor necrosis factor receptor superfamily member 27 (X-linked ectodysplasin-A2 receptor) (EDA-A2 receptor)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; tumor necrosis factor-activated receptor activity [GO:0005031]; ectodermal cell differentiation [GO:0010668]; epidermis development [GO:0008544]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; multicellular organism development [GO:0007275]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of JNK cascade [GO:0046330]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HAV5-1; Sequence=Displayed; Name=2; Synonyms=Long; IsoId=Q9HAV5-2; Sequence=VSP_011568; Name=3; IsoId=Q9HAV5-3; Sequence=VSP_011569; 


uniprotID: Q8N6L7
geneSymbol: TMEM252
name: Transmembrane protein 252
length: 170
go: ENSG00000181778;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MQNRTGLILCALALLMGFLMVCLGAFFISWGSIFDCQGSLIAAYLLLPLGFVILLSGIFWSNYRQVTESKGVLRHMLRQHLAHGALPVATVDRPDFYPPAYEESLEVEKQSCPAEREASGIPPPLYTETGLEFQDGNDSHPEAPPSYRESIAGLVVTAISEDAQRRGQEC


uniprotID: Q9Y5L4
geneSymbol: TIMM13
reactome: R-HSA-1268020;
name: Mitochondrial import inner membrane translocase subunit Tim13
sequence: MEGGFGSDFGGSGSGKLDPGLIMEQVKVQIAVANAQELLQRMTDKCFRKCIGKPGGSLDNSEQKCIAMCMDRYMDAWNTVSRAYNSRLQRERANM
length: 95
go: ENSG00000099800;
opentargets:
fibrillar center [GO:0001650]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space protein transporter complex [GO:0042719]; mitochondrion [GO:0005739]; protein transporter activity [GO:0008565]; zinc ion binding [GO:0008270]; chaperone-mediated protein transport [GO:0072321]; protein import into mitochondrial inner membrane [GO:0045039]; protein targeting to mitochondrion [GO:0006626]; sensory perception of sound [GO:0007605]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11489896}; Peripheral membrane protein {ECO:0000269|PubMed:11489896}; Intermembrane side {ECO:0000269|PubMed:11489896}.


uniprotID: A6NEH6
geneSymbol: TMEM247
name: Transmembrane protein 247
length: 219
opentargets: endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6B0B8
geneSymbol: TIGD3
name: Tigger transposable element-derived protein 3
length: 471
go: ENSG00000173825;
opentargets: nucleus [GO:0005634]; DNA binding [GO:0003677]
sequence:

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00320, ECO:0000255|PROSITE-ProRule:PRU00583}.


uniprotID: Q9NPL8
geneSymbol: TIMMDC1
reactome: R-HSA-6799198;
length: 285
go: ENSG00000113845;
snps: rs11539377 rs57168946
name:
Complex I assembly factor TIMMDC1, mitochondrial (Protein M5-14) (Translocase of inner mitochondrial membrane domain-containing protein 1) (TIMM domain containing-protein 1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mitochondrial respiratory chain complex I assembly [GO:0032981]

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:24191001}; Multi-pass membrane protein {ECO:0000269|PubMed:24191001}.


uniprotID: P57088
geneSymbol: TMEM33
name: Transmembrane protein 33 (Protein DB83) (SHINC-3)
length: 247
go: ENSG00000109133;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; melanosome [GO:0042470]; nuclear envelope [GO:0005635]; positive regulation of IRE1-mediated unfolded protein response [GO:1903896]; positive regulation of PERK-mediated unfolded protein response [GO:1903899]; regulation of endoplasmic reticulum tubular network organization [GO:1903371]; response to endoplasmic reticulum stress [GO:0034976]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:25612671, ECO:0000269|PubMed:26268696}; Multi-pass membrane protein {ECO:0000255}. Melanosome {ECO:0000269|PubMed:17081065}. Nucleus envelope {ECO:0000269|PubMed:25612671}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Co-localizes with RTN4 at the ER sheets. {ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:25612671}.


uniprotID: Q9NVH6
geneSymbol: TMLHE
reactome: R-HSA-71262;
length: 421
go: ENSG00000185973;
drug: DB00139;DB00126;
snps: rs869320708 rs782001959
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:15754339}.
name:
Trimethyllysine dioxygenase, mitochondrial (EC 1.14.11.8) (Epsilon-trimethyllysine 2-oxoglutarate dioxygenase) (Epsilon-trimethyllysine hydroxylase) (TML hydroxylase) (TML-alpha-ketoglutarate dioxygenase) (TML dioxygenase) (TMLD)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen [GO:0016702]; trimethyllysine dioxygenase activity [GO:0050353]; carnitine biosynthetic process [GO:0045329]; negative regulation of oxidoreductase activity [GO:0051354]; oxidation-reduction process [GO:0055114]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=8;  Name=1; Synonyms=TMLHa, TMLH1a; IsoId=Q9NVH6-1; Sequence=Displayed; Name=2; Synonyms=TMLHb; IsoId=Q9NVH6-3; Sequence=VSP_042278; Note=Produced by alternative splicing. Lacks enzymatic activity.; Name=3; Synonyms=TMLHc; IsoId=Q9NVH6-4; Sequence=VSP_042279; Note=Produced by alternative splicing. Lacks enzymatic activity.; Name=4; Synonyms=TMLHd; IsoId=Q9NVH6-2; Sequence=VSP_021579; Note=Produced by alternative splicing. Lacks enzymatic activity.; Name=5; Synonyms=TMLHe; IsoId=Q9NVH6-5; Sequence=VSP_042280, VSP_042281; Note=Produced by alternative splicing. Lacks enzymatic activity.; Name=6; Synonyms=TMLHf; IsoId=Q9NVH6-6; Sequence=VSP_042277; Note=Produced by alternative splicing. Lacks the mitochondrial transit signal.; Name=7; Synonyms=TMLHg; IsoId=Q9NVH6-7; Sequence=VSP_042275; Note=Produced by alternative splicing.; Name=8; Synonyms=TMLH1b; IsoId=Q9NVH6-8; Sequence=VSP_042276; Note=Produced by alternative promoter usage. Although the expression of the alternative 5' exon has been detected by PCR in heart and skeletal muscle, the identification of the alternative promoter leading to this form remains elusive (PubMed:17408883). {ECO:0000305|PubMed:17408883}; 


uniprotID: Q96A57
geneSymbol: TMEM230
name: Transmembrane protein 230
length: 120
go: ENSG00000089063;
snps: rs1056737920 rs764786986 rs143571424 rs141394228
sequence:
MMPSRTNLATGIPSSKVKYSRLSSTDDGYIDLQFKKTPPKIPYKAIALATVLFLIGAFLIIIGSLLLSGYISKGGADRAVPVLIIGILVFLPGFYHLRIAYYASKGYRGYSYDDIPDFDD

opentargets:
autophagosome [GO:0005776]; cell junction [GO:0030054]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; recycling endosome [GO:0055037]; synaptic vesicle [GO:0008021]; trans-Golgi network [GO:0005802]; synaptic vesicle transport [GO:0048489]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q96A57-1; Sequence=Displayed; Name=1; IsoId=Q96A57-2; Sequence=VSP_018155; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:27270108}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000269|PubMed:27270108}. Early endosome {ECO:0000269|PubMed:27270108}. Recycling endosome {ECO:0000269|PubMed:27270108}. Late endosome {ECO:0000269|PubMed:27270108}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:27270108}.


uniprotID: Q6ICI0
geneSymbol: TMEM211
name: Transmembrane protein 211
length: 200
go: ENSG00000206069;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P49755
geneSymbol: TMED10
reactome: R-HSA-204005;R-HSA-5694530;R-HSA-6807878;R-HSA-6811434;
length: 219
go: ENSG00000170348;
snps: rs4929 rs17103066
name:
Transmembrane emp24 domain-containing protein 10 (21 kDa transmembrane-trafficking protein) (S31III125) (S31I125) (Tmp-21-I) (Transmembrane protein Tmp21) (p23) (p24 family protein delta-1) (p24delta1) (p24delta)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; COPI-coated vesicle [GO:0030137]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; ER to Golgi transport vesicle membrane [GO:0012507]; gamma-secretase complex [GO:0070765]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; melanosome [GO:0042470]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; trans-Golgi network transport vesicle [GO:0030140]; transport vesicle [GO:0030133]; zymogen granule membrane [GO:0042589]; protein-containing complex binding [GO:0044877]; syntaxin binding [GO:0019905]; cargo loading into vesicle [GO:0035459]; COPI coating of Golgi vesicle [GO:0048205]; COPI-coated vesicle budding [GO:0035964]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; intracellular protein transport [GO:0006886]; kidney development [GO:0001822]; protein complex oligomerization [GO:0051259]; regulated exocytosis [GO:0045055]; regulation of amyloid-beta formation [GO:1902003]; response to alkaloid [GO:0043279]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; vesicle targeting, to, from or within Golgi [GO:0048199]

location:
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane; Single-pass type I membrane protein. Melanosome. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Cycles between compartments of the early secretatory pathway.


uniprotID: Q7RTY8
geneSymbol: TMPRSS7
name: Transmembrane protease serine 7 (EC 3.4.21.-) (Matriptase-3)
length: 843
go: ENSG00000176040;
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7RTY8-1; Sequence=Displayed; Note=Gene prediction based on similarity to mouse ortholog.; Name=2; IsoId=Q7RTY8-2; Sequence=VSP_040772, VSP_040773, VSP_040774; Name=3; IsoId=Q7RTY8-3; Sequence=VSP_040771; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.


uniprotID: P35590
geneSymbol: TIE1
pdb: 5N06;
name: Tyrosine-protein kinase receptor Tie-1 (EC 2.7.10.1)
length: 1138
go: ENSG00000066056;
snps: rs56302794 rs35573981 rs34993202
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; in utero embryonic development [GO:0001701]; mesoderm development [GO:0007498]; negative regulation of angiogenesis [GO:0016525]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell migration [GO:0030336]; negative regulation of signal transduction [GO:0009968]; plasma membrane fusion [GO:0045026]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; response to retinoic acid [GO:0032526]; signal transduction [GO:0007165]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P35590-1; Sequence=Displayed; Name=2; IsoId=P35590-2; Sequence=VSP_047609, VSP_047610; Name=3; IsoId=P35590-3; Sequence=VSP_047607, VSP_047608; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15851516, ECO:0000269|PubMed:20227369}; Single-pass type I membrane protein {ECO:0000269|PubMed:15851516, ECO:0000269|PubMed:20227369}.


uniprotID: Q8WUU8
geneSymbol: TMEM174
name: Transmembrane protein 174
length: 243
go: ENSG00000164325;
opentargets: endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WUU8-1; Sequence=Displayed; Name=2; IsoId=Q8WUU8-2; Sequence=VSP_024210; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:20331980}; Multi-pass membrane protein {ECO:0000269|PubMed:20331980}.


uniprotID: A8MWL7
geneSymbol: TMEM14DP
name: Transmembrane protein 14DP
length: 114
opentargets: integral component of membrane [GO:0016021]
snps: rs5030881
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MEKPLFPLVPLHWFGFGYTALVVSGGIVGYVKTGRAPSLAAGLLFGSLAGVGAYQLYQDPRNVWDFLAATSVTFVGIMGMRSYYYGKFMPVGLIAGASLLMAAKVGVRMLMTSD


uniprotID: P57727
geneSymbol: TMPRSS3
length: 454
go: ENSG00000160183;
name:
Transmembrane protease serine 3 (EC 3.4.21.-) (Serine protease TADG-12) (Tumor-associated differentially-expressed gene 12 protein)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; scavenger receptor activity [GO:0005044]; serine-type endopeptidase activity [GO:0004252]; sodium channel regulator activity [GO:0017080]; cellular sodium ion homeostasis [GO:0006883]; proteolysis [GO:0006508]; sensory perception of sound [GO:0007605]

snps:
rs928302 rs387906915 rs201632198 rs35227181 rs766000719 rs137853000 rs137852999 rs2839500 rs28939084 rs773780151 rs56264519 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=A; IsoId=P57727-1; Sequence=Displayed; Name=B; Synonyms=C; IsoId=P57727-2; Sequence=VSP_005391; Name=D; IsoId=P57727-3; Sequence=VSP_005392; Name=T; Synonyms=Truncated, TADG-12V; IsoId=P57727-4; Sequence=VSP_005393, VSP_005394; Name=E; IsoId=P57727-5; Sequence=VSP_013184; Name=6; Synonyms=TMPRSS3e; IsoId=P57727-6; Sequence=VSP_047695; Note=Has a predicted N-terminal signal sequence, indicating it may be secreted. Expressed in retina, lung, liver, pancreas, placenta and kidney.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12393794}; Single-pass type II membrane protein {ECO:0000269|PubMed:12393794}.


uniprotID: P13805
geneSymbol: TNNT1
reactome: R-HSA-390522;
name: Troponin T, slow skeletal muscle (TnTs) (Slow skeletal muscle troponin T) (sTnT)
length: 278
go: ENSG00000105048;
sequence:

opentargets:
cytosol [GO:0005829]; troponin complex [GO:0005861]; calcium ion binding [GO:0005509]; tropomyosin binding [GO:0005523]; troponin T binding [GO:0031014]; cardiac muscle contraction [GO:0060048]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]; negative regulation of muscle contraction [GO:0045932]; sarcomere organization [GO:0045214]; skeletal muscle contraction [GO:0003009]; slow-twitch skeletal muscle fiber contraction [GO:0031444]; transition between fast and slow fiber [GO:0014883]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P13805-1; Sequence=Displayed; Name=2; IsoId=P13805-2; Sequence=VSP_006639, VSP_006640; Name=3; IsoId=P13805-3; Sequence=VSP_006640; 


uniprotID: Q9BYE2
geneSymbol: TMPRSS13
length: 586
go: ENSG00000137747;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
Transmembrane protease serine 13 (EC 3.4.21.-) (Membrane-type mosaic serine protease) (Mosaic serine protease)

sequence:

opentargets:
blood microparticle [GO:0072562]; integral component of membrane [GO:0016021]; scavenger receptor activity [GO:0005044]; serine-type endopeptidase activity [GO:0004252]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=MSPL, Large form, Membrane-type; IsoId=Q9BYE2-1; Sequence=Displayed; Name=2; IsoId=Q9BYE2-2; Sequence=VSP_013103, VSP_013104; Note=No experimental confirmation available.; Name=5; IsoId=Q9BYE2-5; Sequence=VSP_013099; Name=3; Synonyms=MSPS, Small form; IsoId=Q9BYE2-3; Sequence=VSP_013099, VSP_013102; Name=4; IsoId=Q9BYE2-4; Sequence=VSP_013100, VSP_013101; Note=No experimental confirmation available.; 


uniprotID: P59090
geneSymbol: TSPEAR-AS2
sequence: MGNPRLPRLLCALKFSGFLSNIRGPLAGEDGMGDTQLARVRDSALKTPWRPAPCPPPAHSLDDWK
length: 65
name:
Putative uncharacterized protein TSPEAR-AS2 (TSPEAR antisense RNA 2) (TSPEAR antisense gene protein 2)

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P59090-1; Sequence=Displayed; Name=2; IsoId=P59090-2; Sequence=VSP_003838, VSP_003839; 


uniprotID: Q8WUA8
geneSymbol: TSKU
name: Tsukushin (Tsukushi) (E2-induced gene 4 protein) (Leucine-rich repeat-containing protein 54)
length: 353
go: ENSG00000182704;
snps: rs3740772 rs11236938 rs3740771 rs1149621
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular space [GO:0005615]; anterior commissure morphogenesis [GO:0021960]; ciliary body morphogenesis [GO:0061073]; corpus callosum morphogenesis [GO:0021540]; lateral ventricle development [GO:0021670]; negative regulation of Wnt signaling pathway [GO:0030178]; regulation of gene expression [GO:0010468]


uniprotID: P07996
geneSymbol: THBS1
reactome: R-HSA-114608;R-HSA-186797;R-HSA-216083;R-HSA-3000170;R-HSA-5083635;R-HSA-5173214;R-HSA-8936459;
pdb: 1LSL;1UX6;1Z78;1ZA4;2ERF;2ES3;2OUH;2OUJ;3R6B;5FOE;
name: Thrombospondin-1 (Glycoprotein G)
length: 1170
go: ENSG00000137801;
snps: rs41515347 rs2292305 rs2228262
sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; fibrinogen complex [GO:0005577]; platelet alpha granule [GO:0031091]; platelet alpha granule lumen [GO:0031093]; sarcoplasmic reticulum [GO:0016529]; secretory granule [GO:0030141]; calcium ion binding [GO:0005509]; collagen V binding [GO:0070052]; extracellular matrix structural constituent [GO:0005201]; fibrinogen binding [GO:0070051]; fibroblast growth factor binding [GO:0017134]; fibronectin binding [GO:0001968]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; integrin binding [GO:0005178]; laminin binding [GO:0043236]; low-density lipoprotein particle binding [GO:0030169]; phosphatidylserine binding [GO:0001786]; proteoglycan binding [GO:0043394]; transforming growth factor beta binding [GO:0050431]; activation of MAPK activity [GO:0000187]; behavioral response to pain [GO:0048266]; cell adhesion [GO:0007155]; cell cycle arrest [GO:0007050]; cell migration [GO:0016477]; cellular response to growth factor stimulus [GO:0071363]; cellular response to heat [GO:0034605]; cellular response to nitric oxide [GO:0071732]; cellular response to tumor necrosis factor [GO:0071356]; chronic inflammatory response [GO:0002544]; endocardial cushion development [GO:0003197]; engulfment of apoptotic cell [GO:0043652]; extracellular matrix organization [GO:0030198]; growth plate cartilage development [GO:0003417]; immune response [GO:0006955]; inflammatory response [GO:0006954]; negative regulation of angiogenesis [GO:0016525]; negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II [GO:0002581]; negative regulation of apoptotic process [GO:0043066]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:1903588]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of cGMP-mediated signaling [GO:0010754]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of dendritic cell antigen processing and presentation [GO:0002605]; negative regulation of endothelial cell chemotaxis [GO:2001027]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of fibrinolysis [GO:0051918]; negative regulation of fibroblast growth factor receptor signaling pathway [GO:0040037]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of interleukin-12 production [GO:0032695]; negative regulation of nitric oxide mediated signal transduction [GO:0010751]; negative regulation of plasma membrane long-chain fatty acid transport [GO:0010748]; negative regulation of plasminogen activation [GO:0010757]; negative regulation of sprouting angiogenesis [GO:1903671]; peptide cross-linking [GO:0018149]; platelet degranulation [GO:0002576]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood coagulation [GO:0030194]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of chemotaxis [GO:0050921]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902043]; positive regulation of fibroblast migration [GO:0010763]; positive regulation of macrophage activation [GO:0043032]; positive regulation of macrophage chemotaxis [GO:0010759]; positive regulation of phosphorylation [GO:0042327]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transforming growth factor beta production [GO:0071636]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; positive regulation of transforming growth factor beta1 production [GO:0032914]; positive regulation of translation [GO:0045727]; positive regulation of tumor necrosis factor biosynthetic process [GO:0042535]; regulation of megakaryocyte differentiation [GO:0045652]; response to calcium ion [GO:0051592]; response to drug [GO:0042493]; response to endoplasmic reticulum stress [GO:0034976]; response to glucose [GO:0009749]; response to hypoxia [GO:0001666]; response to magnesium ion [GO:0032026]; response to mechanical stimulus [GO:0009612]; response to progesterone [GO:0032570]; response to testosterone [GO:0033574]; response to unfolded protein [GO:0006986]; sprouting angiogenesis [GO:0002040]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P07996-1; Sequence=Displayed; Name=2; IsoId=P07996-2; Sequence=VSP_055757; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:6777381}. Cell surface {ECO:0000269|PubMed:6777381}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:6341993}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P35441}. Sarcoplasmic reticulum {ECO:0000250|UniProtKB:P35441}. Note=Secreted by thrombin-activated platelets and binds to the cell surface in the presence of extracellular Ca(2+) (PubMed:6777381). Incorporated into the extracellular matrix of fibroblasts (PubMed:6341993). Also detected in the endoplasmic reticulum and sarcoplasmic reticulum where it plays a role in the ER stress response (By similarity). {ECO:0000250|UniProtKB:P35441, ECO:0000269|PubMed:6341993, ECO:0000269|PubMed:6777381}.


uniprotID: Q5VTQ0
geneSymbol: TTC39B
name: Tetratricopeptide repeat protein 39B (TPR repeat protein 39B)
length: 682
go: ENSG00000155158;
snps: rs10961917 rs1407977
sequence:

opentargets:
cholesterol homeostasis [GO:0042632]; lipid metabolic process [GO:0006629]; negative regulation of cholesterol storage [GO:0010887]; regulation of cholesterol efflux [GO:0010874]; regulation of cholesterol metabolic process [GO:0090181]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q5VTQ0-1; Sequence=Displayed; Name=2; IsoId=Q5VTQ0-2; Sequence=VSP_026355; Note=No experimental confirmation available.; Name=3; IsoId=Q5VTQ0-3; Sequence=VSP_042802; Name=4; IsoId=Q5VTQ0-4; Sequence=VSP_042801; Name=5; IsoId=Q5VTQ0-5; Sequence=VSP_042799; Name=6; IsoId=Q5VTQ0-6; Sequence=VSP_042800; Name=7; IsoId=Q5VTQ0-7; Sequence=VSP_042798, VSP_042803; 


uniprotID: Q96SJ8
geneSymbol: TSPAN18
name: Tetraspanin-18 (Tspan-18)
length: 248
go: ENSG00000157570;
snps: rs2291334
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; cell surface receptor signaling pathway [GO:0007166]


uniprotID: P0C672
geneSymbol: TSPAN19
name: Putative tetraspanin-19 (Tspan-19)
length: 248
go: ENSG00000231738;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; cell surface receptor signaling pathway [GO:0007166]


uniprotID: Q5T7W7
geneSymbol: TSTD2
length: 516
go: ENSG00000136925;
snps: rs2773347 rs10817858
name:
Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2 (Rhodanese domain-containing protein 2)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T7W7-1; Sequence=Displayed; Name=2; IsoId=Q5T7W7-2; Sequence=VSP_017825, VSP_017826, VSP_017827, VSP_017828; Note=No experimental confirmation available.; 


uniprotID: O60636
geneSymbol: TSPAN2
name: Tetraspanin-2 (Tspan-2) (Tetraspan NET-3)
length: 221
go: ENSG00000134198;
snps: rs9659602
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; myelin sheath [GO:0043209]; astrocyte development [GO:0014002]; axon development [GO:0061564]; brain development [GO:0007420]; cell surface receptor signaling pathway [GO:0007166]; inflammatory response [GO:0006954]; microglia development [GO:0014005]; myelination [GO:0042552]; oligodendrocyte differentiation [GO:0048709]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60636-1; Sequence=Displayed; Name=2; IsoId=O60636-2; Sequence=VSP_047734; 


uniprotID: Q8N5M4
geneSymbol: TTC9C
name: Tetratricopeptide repeat protein 9C (TPR repeat protein 9C)
length: 171
go: ENSG00000162222;
sequence:
MEKRLQEAQLYKEEGNQRYREGKYRDAVSRYHRALLQLRGLDPSLPSPLPNLGPQGPALTPEQENILHTTQTDCYNNLAACLLQMEPVNYERVREYSQKVLERQPDNAKALYRAGVAFFHLQDYDQARHYLLAAVNRQPKDANVRRYLQLTQSELSSYHRKEKQLYLGMFG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N5M4-1; Sequence=Displayed; Name=2; IsoId=Q8N5M4-2; Sequence=VSP_056610, VSP_056611; Note=No experimental confirmation available.; 


uniprotID: P29597
geneSymbol: TYK2
name: Non-receptor tyrosine-protein kinase TYK2 (EC 2.7.10.2)
length: 1187
go: ENSG00000105397;
reactome:
R-HSA-1059683;R-HSA-110056;R-HSA-112411;R-HSA-449836;R-HSA-6783783;R-HSA-6785807;R-HSA-6788467;R-HSA-8854691;R-HSA-8984722;R-HSA-9020591;R-HSA-9020933;R-HSA-9020956;R-HSA-909733;R-HSA-912694;

pdb:
3LXN;3LXP;3NYX;3NZ0;3ZON;4GFO;4GIH;4GII;4GJ2;4GJ3;4GVJ;4OLI;4PO6;4PY1;4WOV;5C01;5C03;5F1Z;5F20;5TKD;5WAL;6AAM;6DBK;6DBM;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleus [GO:0005634]; ATP binding [GO:0005524]; growth hormone receptor binding [GO:0005131]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein tyrosine kinase activity [GO:0004713]; type 1 angiotensin receptor binding [GO:0031702]; cytokine-mediated signaling pathway [GO:0019221]; interleukin-12-mediated signaling pathway [GO:0035722]; interleukin-23-mediated signaling pathway [GO:0038155]; interleukin-27-mediated signaling pathway [GO:0070106]; intracellular signal transduction [GO:0035556]; protein phosphorylation [GO:0006468]; type I interferon signaling pathway [GO:0060337]

snps:
rs12720343 rs1049619 rs12720263 rs2304256 rs2304255 rs55956017 rs2304254 rs12720356 rs55882956 rs34046749 rs35018800 rs34536443 rs55886939 


uniprotID: P04818
geneSymbol: TYMS
reactome: R-HSA-499943;R-HSA-539107;
name: Thymidylate synthase (TS) (TSase) (EC 2.1.1.45)
length: 313
go: ENSG00000176890;
pdb:
1HVY;1HW3;1HW4;1HZW;1I00;1JU6;1JUJ;1YPV;2ONB;2RD8;2RDA;3EAW;3EBU;3ED7;3EDW;3EF9;3EGY;3EHI;3EJL;3GG5;3GH0;3GH2;3H9K;3HB8;3N5E;3N5G;3OB7;4E28;4FGT;4G2O;4G6W;4GD7;4GYH;4H1I;4JEF;4KPW;4O1U;4O1X;4UP1;5HS3;5WRN;5X4W;5X4X;5X4Y;5X5A;5X5D;5X5Q;5X66;5X67;5X69;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; cofactor binding [GO:0048037]; folic acid binding [GO:0005542]; nucleotide binding [GO:0000166]; protein homodimerization activity [GO:0042803]; sequence-specific mRNA binding [GO:1990825]; thymidylate synthase activity [GO:0004799]; translation repressor activity, mRNA regulatory element binding [GO:0000900]; aging [GO:0007568]; cartilage development [GO:0051216]; circadian rhythm [GO:0007623]; developmental growth [GO:0048589]; DNA biosynthetic process [GO:0071897]; dTMP biosynthetic process [GO:0006231]; dTTP biosynthetic process [GO:0006235]; dUMP metabolic process [GO:0046078]; immortalization of host cell by virus [GO:0019088]; intestinal epithelial cell maturation [GO:0060574]; liver regeneration [GO:0097421]; negative regulation of translation [GO:0017148]; nucleobase-containing small molecule interconversion [GO:0015949]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; response to cytokine [GO:0034097]; response to ethanol [GO:0045471]; response to folic acid [GO:0051593]; response to glucocorticoid [GO:0051384]; response to organophosphorus [GO:0046683]; response to progesterone [GO:0032570]; response to vitamin A [GO:0033189]; tetrahydrofolate interconversion [GO:0035999]; uracil metabolic process [GO:0019860]

drug:
DB03800;DB05308;DB01101;DB00322;DB00544;DB00441;DB00563;DB08478;DB05116;DB05457;DB00642;DB06813;DB00293;DB01643;DB00432;DB00440;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P04818-1; Sequence=Displayed; Name=2; Synonyms=delta4; IsoId=P04818-2; Sequence=VSP_047746; Note=Expressed both in normal and cancerous tissues.; Name=3; Synonyms=delta2+3; IsoId=P04818-3; Sequence=VSP_047745; Note=Expressed only in cancerous tissues.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21876188}. Cytoplasm {ECO:0000269|PubMed:21876188}. Mitochondrion {ECO:0000269|PubMed:21876188}. Mitochondrion matrix {ECO:0000269|PubMed:21876188}. Mitochondrion inner membrane {ECO:0000269|PubMed:21876188}.


uniprotID: A2RUC4
geneSymbol: TYW5
reactome: R-HSA-6782861;
pdb: 3AL5;3AL6;
length: 315
go: ENSG00000162971;
snps: rs10497844
name:
tRNA wybutosine-synthesizing protein 5 (hTYW5) (EC 1.14.11.42) (tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine(37)-C(2))-hydroxylase)

sequence:

opentargets:
cytoplasm [GO:0005737]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors [GO:0016706]; protein homodimerization activity [GO:0042803]; tRNA binding [GO:0000049]; tRNAPhe (7-(3-amino-3-carboxypropyl)wyosine37-C2)-hydroxylase activity [GO:0102524]; tRNA modification [GO:0006400]; wybutosine biosynthetic process [GO:0031591]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A2RUC4-1; Sequence=Displayed; Name=2; IsoId=A2RUC4-2; Sequence=VSP_029106; Note=No experimental confirmation available.; 


uniprotID: P25490
geneSymbol: YY1
reactome: R-HSA-5617472;R-HSA-5689603;R-HSA-5696394;R-HSA-8866910;R-HSA-9018519;
pdb: 1UBD;1ZNM;4C5I;
length: 414
go: ENSG00000100811;
snps: rs1131692163 rs1131692044 rs386834266 rs1131692043
name:
Transcriptional repressor protein YY1 (Delta transcription factor) (INO80 complex subunit S) (NF-E1) (Yin and yang 1) (YY-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; Ino80 complex [GO:0031011]; nuclear chromatin [GO:0000790]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer sequence-specific DNA binding [GO:0001158]; four-way junction DNA binding [GO:0000400]; histone deacetylase binding [GO:0042826]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; proximal promoter sequence-specific DNA binding [GO:0000987]; RNA binding [GO:0003723]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II repressing transcription factor binding [GO:0001103]; sequence-specific DNA binding [GO:0043565]; SMAD binding [GO:0046332]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; anterior/posterior pattern specification [GO:0009952]; camera-type eye morphogenesis [GO:0048593]; cell differentiation [GO:0030154]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to interleukin-1 [GO:0071347]; cellular response to UV [GO:0034644]; chromosome organization [GO:0051276]; double-strand break repair via homologous recombination [GO:0000724]; negative regulation of gene expression [GO:0010629]; negative regulation of interferon-beta production [GO:0032688]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; regulation of transcription by RNA polymerase II [GO:0006357]; response to prostaglandin F [GO:0034696]; response to UV-C [GO:0010225]; RNA localization [GO:0006403]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000269|PubMed:18026119, ECO:0000269|PubMed:23385818, ECO:0000269|PubMed:9493912}. Note=Associated with the nuclear matrix.


uniprotID: O15391
geneSymbol: YY2
name: Transcription factor YY2 (Yin and yang 2) (YY-2) (Zinc finger protein 631)
length: 372
go: ENSG00000230797;
snps: rs147081325
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; proximal promoter sequence-specific DNA binding [GO:0000987]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II repressing transcription factor binding [GO:0001103]; sequence-specific DNA binding [GO:0043565]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P10074
geneSymbol: ZBTB48
pdb: 3B84;5YJ3;
length: 688
go: ENSG00000204859;
snps: rs2229330
name:
Telomere zinc finger-associated protein (TZAP) (Krueppel-related zinc finger protein 3) (hKR3) (Zinc finger and BTB domain-containing protein 48) (Zinc finger protein 855)

sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded telomeric DNA binding [GO:0003691]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; transcription regulatory region DNA binding [GO:0044212]; positive regulation of transcription, DNA-templated [GO:0045893]; telomere maintenance via telomere lengthening [GO:0010833]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Chromosome, telomere {ECO:0000269|PubMed:28082411, ECO:0000269|PubMed:28500257}. Note=Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat (PubMed:28500257, PubMed:28082411). According to a report, preferentially binds to long telomeres that have a low concentration of shelterin complex, competing with the telomeric repeat binding factors TERF1 and TERF2 (PubMed:28082411). According to another report, binds telomeres regardless of their length (PubMed:28500257). {ECO:0000269|PubMed:28082411, ECO:0000269|PubMed:28500257}.


uniprotID: P0DN76
geneSymbol: U2AF1L5
length: 240
go: ENSG00000160201;
name:
Splicing factor U2AF 35 kDa subunit-like protein (U2 small nuclear RNA auxiliary factor 1-like protein 5)

sequence:

opentargets:
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]; RS domain binding [GO:0050733]; mRNA splicing, via spliceosome [GO:0000398]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q01081}. Nucleus speckle {ECO:0000250|UniProtKB:Q01081}.


uniprotID: A6NCW7
geneSymbol: USP17L4
reactome: R-HSA-5689880;
name: Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4
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]


uniprotID: C9JJH3
geneSymbol: USP17L10
reactome: R-HSA-5689880;
name: Ubiquitin carboxyl-terminal hydrolase 17-like protein 10 (EC 3.4.19.12)
length: 530
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
sequence:


uniprotID: C9JVI0
geneSymbol: USP17L11
reactome: R-HSA-5689880;
name: Ubiquitin carboxyl-terminal hydrolase 17-like protein 11 (EC 3.4.19.12)
length: 530
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
sequence:


uniprotID: Q8TBC4
geneSymbol: UBA3
reactome: R-HSA-5607761;R-HSA-5676590;R-HSA-8951664;R-HSA-983168;
pdb: 1R4M;1R4N;1TT5;1Y8X;1YOV;2LQ7;2NVU;3DBH;3DBL;3DBR;3FN1;3GZN;5JJM;
length: 463
go: ENSG00000144744;
snps: rs17852113
name:
NEDD8-activating enzyme E1 catalytic subunit (EC 6.2.1.-) (NEDD8-activating enzyme E1C) (Ubiquitin-activating enzyme E1C) (Ubiquitin-like modifier-activating enzyme 3) (Ubiquitin-activating enzyme 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; acid-amino acid ligase activity [GO:0016881]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; NEDD8 activating enzyme activity [GO:0019781]; NEDD8 transferase activity [GO:0019788]; nuclear receptor binding [GO:0016922]; protein heterodimerization activity [GO:0046982]; cellular protein modification process [GO:0006464]; endomitotic cell cycle [GO:0007113]; negative regulation of transcription, DNA-templated [GO:0045892]; post-translational protein modification [GO:0043687]; protein neddylation [GO:0045116]; proteolysis [GO:0006508]; regulation of cell cycle [GO:0051726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TBC4-1; Sequence=Displayed; Name=2; IsoId=Q8TBC4-2; Sequence=VSP_041127; 


uniprotID: P41226
geneSymbol: UBA7
reactome: R-HSA-1169408;R-HSA-168928;R-HSA-5656169;R-HSA-936440;R-HSA-983168;
length: 1012
go: ENSG00000182179;
snps: rs11928913 rs2230149
name:
Ubiquitin-like modifier-activating enzyme 7 (Ubiquitin-activating enzyme 7) (D8) (Ubiquitin-activating enzyme E1 homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; ISG15 activating enzyme activity [GO:0019782]; ubiquitin-protein transferase activity [GO:0004842]; cellular protein modification process [GO:0006464]; cellular response to DNA damage stimulus [GO:0006974]; ISG15-protein conjugation [GO:0032020]; modification-dependent protein catabolic process [GO:0019941]; negative regulation of type I interferon production [GO:0032480]


uniprotID: Q8TB05
geneSymbol: UBALD1
name: UBA-like domain-containing protein 1
length: 177
go: ENSG00000153443;
sequence:
MSVNMDELKHQVMINQFVLTAGCAADQAKQLLQAAHWQFETALSAFFQETNIPYSHHHHQMMCTPANTPATPPNFPDALTMFSRLKASESFHSGGSGSPMAATATSPPPHFPHAATSSSAASSWPTAASPPGGPQHHQPQPPLWTPTPPSPASDWPPLAPQQATSEPRAHPAMEAER

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TB05-1; Sequence=Displayed; Name=2; IsoId=Q8TB05-2; Sequence=VSP_018573; Note=No experimental confirmation available.; 


uniprotID: Q9Y385
geneSymbol: UBE2J1
reactome: R-HSA-983168;
length: 318
go: ENSG00000198833;
snps: rs8099 rs10502
name:
Ubiquitin-conjugating enzyme E2 J1 (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme J1) (Non-canonical ubiquitin-conjugating enzyme 1) (NCUBE-1) (Yeast ubiquitin-conjugating enzyme UBC6 homolog E) (HsUBC6e)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; ATP binding [GO:0005524]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin protein ligase binding [GO:0031625]; negative regulation of retrograde protein transport, ER to cytosol [GO:1904153]; protein N-linked glycosylation via asparagine [GO:0018279]; regulation of tumor necrosis factor biosynthetic process [GO:0042534]; spermatid development [GO:0007286]; ubiquitin-dependent ERAD pathway [GO:0030433]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12082160}; Single-pass type IV membrane protein {ECO:0000269|PubMed:12082160}.


uniprotID: P63279
geneSymbol: UBE2I
length: 158
go: ENSG00000103275;
reactome:
R-HSA-1221632;R-HSA-196791;R-HSA-3065678;R-HSA-3108214;R-HSA-3232118;R-HSA-3232142;R-HSA-3899300;R-HSA-4085377;R-HSA-4090294;R-HSA-4551638;R-HSA-4570464;R-HSA-4615885;R-HSA-4655427;R-HSA-4755510;R-HSA-5693565;R-HSA-5693607;R-HSA-5696395;R-HSA-8866904;

pdb:
1A3S;1KPS;1Z5Q;1Z5S;2GRN;2GRO;2GRP;2GRQ;2GRR;2O25;2PE6;2PX9;2XWU;3A4S;3UIN;3UIO;3UIP;4W5V;4Y1L;5D2M;5F6D;5F6E;5F6U;5F6V;5F6W;5F6X;5F6Y;5FQ2;

name:
SUMO-conjugating enzyme UBC9 (EC 2.3.2.-) (RING-type E3 SUMO transferase UBC9) (SUMO-protein ligase) (Ubiquitin carrier protein 9) (Ubiquitin carrier protein I) (Ubiquitin-conjugating enzyme E2 I) (Ubiquitin-protein ligase I) (p18)

sequence:
MSGIALSRLAQERKAWRKDHPFGFVAVPTKNPDGTMNLMNWECAIPGKKGTPWEGGLFKLRMLFKDDYPSSPPKCKFEPPLFHPNVYPSGTVCLSILEEDKDWRPAITIKQILLGIQELLNEPNIQDPAQAEAYTIYCQNRVEYEKRVRAQAKKFAPS

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; fibrillar center [GO:0001650]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; sumoylated E2 ligase complex [GO:1990356]; synapse [GO:0045202]; synaptonemal complex [GO:0000795]; transferase complex [GO:1990234]; ATP binding [GO:0005524]; bHLH transcription factor binding [GO:0043425]; enzyme binding [GO:0019899]; HLH domain binding [GO:0043398]; protein C-terminus binding [GO:0008022]; RING-like zinc finger domain binding [GO:0071535]; RNA binding [GO:0003723]; small protein activating enzyme binding [GO:0044388]; SUMO conjugating enzyme activity [GO:0061656]; SUMO transferase activity [GO:0019789]; transcription factor binding [GO:0008134]; ubiquitin-protein transferase activity [GO:0004842]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular protein modification process [GO:0006464]; chromosome segregation [GO:0007059]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of intracellular steroid hormone receptor signaling pathway [GO:0033145]; positive regulation of SUMO transferase activity [GO:1903755]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein sumoylation [GO:0016925]; regulation of signaling receptor activity [GO:0010469]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly nuclear. In spermatocytes, localizes in synaptonemal complexes. Recruited by BCL11A into the nuclear body (By similarity). {ECO:0000250}.


uniprotID: P22314
geneSymbol: UBA1
reactome: R-HSA-8866652;R-HSA-983168;
pdb: 4P22;
length: 1058
go: ENSG00000130985;
drug: DB04119;
snps: rs2070169 rs80356545 rs80356546
name:
Ubiquitin-like modifier-activating enzyme 1 (EC 6.2.1.45) (Protein A1S9) (Ubiquitin-activating enzyme E1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; ubiquitin activating enzyme activity [GO:0004839]; cellular response to DNA damage stimulus [GO:0006974]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; Synonyms=E1a; IsoId=P22314-1; Sequence=Displayed; Name=2; Synonyms=E1b; IsoId=P22314-2; Sequence=VSP_055913; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:1376922}. Mitochondrion {ECO:0000269|PubMed:1376922}. Nucleus {ECO:0000269|PubMed:1376922, ECO:0000269|PubMed:22456334}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:7528747, ECO:0000269|PubMed:9099746}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:7528747}.


uniprotID: O15205
geneSymbol: UBD
reactome: R-HSA-8951664;
pdb: 2MBE;6GF1;6GF2;
name: Ubiquitin D (Diubiquitin) (Ubiquitin-like protein FAT10)
length: 165
go: ENSG00000213886;
snps: rs2076484 rs2076485 rs2076486 rs2076487 rs17184290 rs8337 rs7757931
sequence:
MAPNASCLCVHVRSEEWDLMTFDANPYDSVKKIKEHVRSKTKVPVQDQVLLLGSKILKPRRSLSSYGIDKEKTIHLTLKVVKPSDEELPLFLVESGDEAKRHLLQVRRSSSVAQVKAMIETKTGIIPETQIVTCNGKRLEDGKMMADYGIRKGNLLFLACYCIGG

opentargets:
aggresome [GO:0016235]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; proteasome binding [GO:0070628]; aggresome assembly [GO:0070842]; myeloid dendritic cell differentiation [GO:0043011]; positive regulation of apoptotic process [GO:0043065]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; post-translational protein modification [GO:0043687]; protein modification by small protein conjugation [GO:0032446]; protein ubiquitination [GO:0016567]; proteolysis [GO:0006508]; regulation of mitotic cell cycle phase transition [GO:1901990]; response to interferon-gamma [GO:0034341]; response to tumor necrosis factor [GO:0034612]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12730673, ECO:0000269|PubMed:19033385}. Cytoplasm {ECO:0000250}. Note=Accumulates in aggresomes under proteasome inhibition conditions.


uniprotID: P61088
geneSymbol: UBE2N
length: 152
go: ENSG00000177889;
reactome:
R-HSA-1169408;R-HSA-168638;R-HSA-168927;R-HSA-202424;R-HSA-2871837;R-HSA-445989;R-HSA-450302;R-HSA-450321;R-HSA-5607764;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-5696395;R-HSA-69473;R-HSA-8866654;R-HSA-9020702;R-HSA-937039;R-HSA-937041;R-HSA-975110;R-HSA-975144;R-HSA-983168;

pdb:
1J7D;2C2V;3HCT;3HCU;3VON;3W31;4DHI;4DHJ;4DHZ;4IP3;4NR3;4NRG;4NRI;4ONL;4ONM;4ONN;4ORH;4TKP;4WHV;5AIT;5AIU;5EYA;5H7S;5VNZ;5VO0;5YWR;

name:
Ubiquitin-conjugating enzyme E2 N (EC 2.3.2.23) (Bendless-like ubiquitin-conjugating enzyme) (E2 ubiquitin-conjugating enzyme N) (Ubc13) (UbcH13) (Ubiquitin carrier protein N) (Ubiquitin-protein ligase N)

sequence:
MAGLPRRIIKETQRLLAEPVPGIKAEPDESNARYFHVVIAGPQDSPFEGGTFKLELFLPEEYPMAAPKVRFMTKIYHPNVDKLGRICLDILKDKWSPALQIRTVLLSIQALLSAPNPDDPLANDVAEQWKTNEAQAIETARAWTRLYAMNNI

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; UBC13-MMS2 complex [GO:0031372]; UBC13-UEV1A complex [GO:0035370]; ubiquitin ligase complex [GO:0000151]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; ubiquitin binding [GO:0043130]; ubiquitin conjugating enzyme activity [GO:0061631]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; activation of MAPK activity [GO:0000187]; cellular protein modification process [GO:0006464]; DNA double-strand break processing [GO:0000729]; double-strand break repair via homologous recombination [GO:0000724]; double-strand break repair via nonhomologous end joining [GO:0006303]; histone ubiquitination [GO:0016574]; interleukin-1-mediated signaling pathway [GO:0070498]; JNK cascade [GO:0007254]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of DNA repair [GO:0045739]; positive regulation of histone modification [GO:0031058]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; postreplication repair [GO:0006301]; protein K63-linked ubiquitination [GO:0070534]; protein ubiquitination [GO:0016567]; proteolysis [GO:0006508]; regulation of DNA repair [GO:0006282]; regulation of histone ubiquitination [GO:0033182]; T cell receptor signaling pathway [GO:0050852]; ubiquitin-dependent protein catabolic process [GO:0006511]

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


uniprotID: Q9NZI7
geneSymbol: UBP1
name: Upstream-binding protein 1 (Transcription factor LBP-1)
length: 540
go: ENSG00000153560;
snps: rs3736563 rs17854430
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8114710}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; angiogenesis [GO:0001525]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of transcription by RNA polymerase II [GO:0006357]; viral genome replication [GO:0019079]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=LBP-1b; IsoId=Q9NZI7-1; Sequence=Displayed; Name=2; Synonyms=LBP-1a; IsoId=Q9NZI7-4; Sequence=VSP_017730; 


uniprotID: Q96S82
geneSymbol: UBL7
pdb: 2CWB;2DEN;
length: 380
go: ENSG00000138629;
name:
Ubiquitin-like protein 7 (Bone marrow stromal cell ubiquitin-like protein) (BMSC-UbP) (Ubiquitin-like protein SB132)

sequence:


uniprotID: P11441
geneSymbol: UBL4A
pdb: 2DZI;4WWR;4X86;
name: Ubiquitin-like protein 4A (Ubiquitin-like protein GDX)
length: 157
go: ENSG00000102178;
sequence:
MQLTVKALQGRECSLQVPEDELVSTLKQLVSEKLNVPVRQQRLLFKGKALADGKRLSDYSIGPNSKLNLVVKPLEKVLLEEGEAQRLADSPPPQVWQLISKVLARHFSAADASRVLEQLQRDYERSLSRLTLDDIERLASRFLHPEVTETMEKGFSK

opentargets:
BAT3 complex [GO:0071818]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chaperone binding [GO:0051087]; ubiquitin-like protein transferase activity [GO:0019787]; cellular protein modification process [GO:0006464]; tail-anchored membrane protein insertion into ER membrane [GO:0071816]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20676083, ECO:0000269|PubMed:21636303}. Nucleus {ECO:0000269|PubMed:21636303}.


uniprotID: P54578
geneSymbol: USP14
reactome: R-HSA-5689880;
pdb: 2AYN;2AYO;5GJQ;
length: 494
go: ENSG00000101557;
name:
Ubiquitin carboxyl-terminal hydrolase 14 (EC 3.4.19.12) (Deubiquitinating enzyme 14) (Ubiquitin thioesterase 14) (Ubiquitin-specific-processing protease 14)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; proteasome complex [GO:0000502]; synapse [GO:0045202]; cysteine-type endopeptidase activity [GO:0004197]; endopeptidase inhibitor activity [GO:0004866]; proteasome binding [GO:0070628]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; tRNA guanylyltransferase activity [GO:0008193]; chemical synaptic transmission [GO:0007268]; innate immune response [GO:0045087]; negative regulation of ER-associated ubiquitin-dependent protein catabolic process [GO:1903070]; protein deubiquitination [GO:0016579]; regulation of chemotaxis [GO:0050920]; regulation of proteasomal protein catabolic process [GO:0061136]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P54578-1; Sequence=Displayed; Name=2; IsoId=P54578-2; Sequence=VSP_047343; Note=No experimental confirmation available.; Name=3; IsoId=P54578-3; Sequence=VSP_057292; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19106094}. Cell membrane {ECO:0000269|PubMed:19106094}; Peripheral membrane protein {ECO:0000269|PubMed:19106094}.


uniprotID: P51784
geneSymbol: USP11
reactome: R-HSA-390471;R-HSA-5689880;
pdb: 4MEL;
length: 963
go: ENSG00000102226;
name:
Ubiquitin carboxyl-terminal hydrolase 11 (EC 3.4.19.12) (Deubiquitinating enzyme 11) (Ubiquitin thioesterase 11) (Ubiquitin-specific-processing protease 11)

sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; 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]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12084015, ECO:0000269|PubMed:15314155, ECO:0000269|PubMed:20233726}. Cytoplasm {ECO:0000269|PubMed:15314155}. Chromosome {ECO:0000269|PubMed:20233726, ECO:0000269|PubMed:20601937}. Note=Predominantly nuclear (PubMed:12084015, PubMed:15314155). Associates with chromatin (PubMed:20601937, PubMed:20233726). {ECO:0000269|PubMed:12084015, ECO:0000269|PubMed:15314155, ECO:0000269|PubMed:20233726, ECO:0000269|PubMed:20601937}.


uniprotID: O75317
geneSymbol: USP12
reactome: R-HSA-5689880;
pdb: 5K16;5K1A;5K1B;5K1C;5L8W;
length: 370
go: ENSG00000152484;
name:
Ubiquitin carboxyl-terminal hydrolase 12 (EC 3.4.19.12) (Deubiquitinating enzyme 12) (Ubiquitin thioesterase 12) (Ubiquitin-hydrolyzing enzyme 1) (Ubiquitin-specific-processing protease 12)

sequence:

opentargets:
nucleoplasm [GO:0005654]; cysteine-type endopeptidase activity [GO:0004197]; metal ion binding [GO:0046872]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q9UPU5
geneSymbol: USP24
reactome: R-HSA-5689880;
length: 2620
go: ENSG00000162402;
snps: rs1165222 rs2274540 rs12753590 rs487230
name:
Ubiquitin carboxyl-terminal hydrolase 24 (EC 3.4.19.12) (Deubiquitinating enzyme 24) (Ubiquitin thioesterase 24) (Ubiquitin-specific-processing protease 24)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q70CQ4
geneSymbol: USP31
length: 1352
go: ENSG00000103404;
snps: rs1978066 rs4597335 rs13339649 rs9932912 rs10083789 rs35541113 rs35254998
name:
Ubiquitin carboxyl-terminal hydrolase 31 (EC 3.4.19.12) (Deubiquitinating enzyme 31) (Ubiquitin thioesterase 31) (Ubiquitin-specific-processing protease 31)

sequence:

opentargets:
nucleus [GO:0005634]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q70CQ4-1; Sequence=Displayed; Name=2; IsoId=Q70CQ4-2; Sequence=VSP_020459, VSP_020460, VSP_020461, VSP_020462; Note=No experimental confirmation available.; 


uniprotID: Q8NFA0
geneSymbol: USP32
length: 1604
go: ENSG00000170832;
snps: rs7208980 rs3207630 rs1053621 rs1053625
name:
Ubiquitin carboxyl-terminal hydrolase 32 (EC 3.4.19.12) (Deubiquitinating enzyme 32) (Renal carcinoma antigen NY-REN-60) (Ubiquitin thioesterase 32) (Ubiquitin-specific-processing protease 32)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NFA0-1; Sequence=Displayed; Name=2; IsoId=Q8NFA0-2; Sequence=VSP_056307, VSP_056308; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Golgi apparatus {ECO:0000269|PubMed:20549504}.


uniprotID: Q70CQ2
geneSymbol: USP34
reactome: R-HSA-201681;R-HSA-5689880;
length: 3546
go: ENSG00000115464;
snps: rs6722430 rs6723818 rs4386306
name:
Ubiquitin carboxyl-terminal hydrolase 34 (EC 3.4.19.12) (Deubiquitinating enzyme 34) (Ubiquitin thioesterase 34) (Ubiquitin-specific-processing protease 34)

sequence:

opentargets:
cytosol [GO:0005829]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; protein deubiquitination [GO:0016579]; protein K48-linked deubiquitination [GO:0071108]; regulation of protein stability [GO:0031647]; ubiquitin-dependent protein catabolic process [GO:0006511]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q70CQ2-1; Sequence=Displayed; Name=2; IsoId=Q70CQ2-2; Sequence=VSP_035639, VSP_035640; Name=3; IsoId=Q70CQ2-3; Sequence=VSP_035639, VSP_035640, VSP_020463; Note=No experimental confirmation available.; 


uniprotID: Q9P2H5
geneSymbol: USP35
pdb: 5TXK;
length: 1018
go: ENSG00000118369;
snps: rs2510044
name:
Ubiquitin carboxyl-terminal hydrolase 35 (EC 3.4.19.12) (Deubiquitinating enzyme 35) (Ubiquitin thioesterase 35) (Ubiquitin-specific-processing protease 35)

sequence:

opentargets:
cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2H5-1; Sequence=Displayed; Name=2; IsoId=Q9P2H5-2; Sequence=VSP_040291; Note=No experimental confirmation available.; 


uniprotID: Q9UMW8
geneSymbol: USP18
reactome: R-HSA-1169408;R-HSA-5689880;R-HSA-912694;
length: 372
go: ENSG00000184979;
snps: rs3180408
name:
Ubl carboxyl-terminal hydrolase 18 (EC 3.4.19.-) (43 kDa ISG15-specific protease) (hUBP43) (ISG15-specific-processing protease) (Ubl thioesterase 18)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; ISG15-specific protease activity [GO:0019785]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; protein deubiquitination [GO:0016579]; regulation of inflammatory response [GO:0050727]; regulation of protein stability [GO:0031647]; regulation of type I interferon-mediated signaling pathway [GO:0060338]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=Q9UMW8-1; Sequence=Displayed; Name=2; Synonyms=USP18-sf; IsoId=Q9UMW8-2; Sequence=VSP_055236; Note=Produced by alternative initiation at a CTG start codon. An IRES Element in the 5' region contributes to expression.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:22170061}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:22170061}. Cytoplasm {ECO:0000269|PubMed:22170061}.


uniprotID: O94966
geneSymbol: USP19
reactome: R-HSA-5689880;
pdb: 1WH0;4X3G;
length: 1318
go: ENSG00000172046;
snps: rs11552724
name:
Ubiquitin carboxyl-terminal hydrolase 19 (EC 3.4.19.12) (Deubiquitinating enzyme 19) (Ubiquitin thioesterase 19) (Ubiquitin-specific-processing protease 19) (Zinc finger MYND domain-containing protein 9)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; Hsp90 protein binding [GO:0051879]; Lys48-specific deubiquitinase activity [GO:1990380]; metal ion binding [GO:0046872]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; ubiquitin protein ligase binding [GO:0031625]; negative regulation of proteasomal protein catabolic process [GO:1901799]; negative regulation of skeletal muscle tissue development [GO:0048642]; positive regulation of cell cycle process [GO:0090068]; protein deubiquitination [GO:0016579]; protein stabilization [GO:0050821]; regulation of cellular response to hypoxia [GO:1900037]; regulation of ERAD pathway [GO:1904292]; regulation of protein stability [GO:0031647]; response to endoplasmic reticulum stress [GO:0034976]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=O94966-1; Sequence=Displayed; Name=2; IsoId=O94966-2; Sequence=VSP_026708, VSP_026709, VSP_026710, VSP_026711; Note=No experimental confirmation available.; Name=3; IsoId=O94966-3; Sequence=VSP_026712, VSP_026713; Note=No experimental confirmation available.; Name=4; IsoId=O94966-4; Sequence=VSP_026708, VSP_045891, VSP_026712, VSP_026713; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=O94966-5; Sequence=VSP_026709; Note=No experimental confirmation available.; Name=6; IsoId=O94966-6; Sequence=VSP_026709, VSP_045891, VSP_026712, VSP_026713; Note=No experimental confirmation available.; Name=7; IsoId=O94966-7; Sequence=VSP_047057, VSP_026712, VSP_026713; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19465887}; Single-pass membrane protein {ECO:0000269|PubMed:19465887}.


uniprotID: Q9Y6I4
geneSymbol: USP3
reactome: R-HSA-5689880;
length: 520
go: ENSG00000140455;
snps: rs34776764
name:
Ubiquitin carboxyl-terminal hydrolase 3 (EC 3.4.19.12) (Deubiquitinating enzyme 3) (Ubiquitin thioesterase 3) (Ubiquitin-specific-processing protease 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; Flemming body [GO:0090543]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone binding [GO:0042393]; promoter-specific chromatin binding [GO:1990841]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; zinc ion binding [GO:0008270]; DNA repair [GO:0006281]; histone deubiquitination [GO:0016578]; mitotic cell cycle [GO:0000278]; negative regulation of transcription by RNA polymerase II [GO:0000122]; protein deubiquitination [GO:0016579]; regulation of protein stability [GO:0031647]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6I4-1; Sequence=Displayed; Name=2; IsoId=Q9Y6I4-2; Sequence=VSP_044712; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17980597}. Note=Localizes preferentially with monoubiquitinated H2A to chromatin.


uniprotID: Q6ZT12
geneSymbol: UBR3
length: 1888
go: ENSG00000144357;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
E3 ubiquitin-protein ligase UBR3 (EC 2.3.2.27) (N-recognin-3) (RING-type E3 ubiquitin transferase UBR3) (Ubiquitin-protein ligase E3-alpha-3) (Ubiquitin-protein ligase E3-alpha-III) (Zinc finger protein 650)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; ubiquitin ligase complex [GO:0000151]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; embryo development ending in birth or egg hatching [GO:0009792]; in utero embryonic development [GO:0001701]; olfactory behavior [GO:0042048]; protein ubiquitination [GO:0016567]; sensory perception of smell [GO:0007608]; suckling behavior [GO:0001967]; ubiquitin-dependent protein catabolic process [GO:0006511]; ubiquitin-dependent protein catabolic process via the N-end rule pathway [GO:0071596]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6ZT12-1; Sequence=Displayed; Name=2; IsoId=Q6ZT12-2; Sequence=VSP_030354, VSP_023142; Name=3; IsoId=Q6ZT12-3; Sequence=VSP_023141; Name=4; IsoId=Q6ZT12-4; Sequence=VSP_036405; Note=No experimental confirmation available.; 


uniprotID: Q96RU2
geneSymbol: USP28
reactome: R-HSA-5689880;
pdb: 2LVA;2MUU;
length: 1077
go: ENSG00000048028;
location: SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:17558397}.
name:
Ubiquitin carboxyl-terminal hydrolase 28 (EC 3.4.19.12) (Deubiquitinating enzyme 28) (Ubiquitin thioesterase 28) (Ubiquitin-specific-processing protease 28)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; cysteine-type endopeptidase activity [GO:0004197]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; cell proliferation [GO:0008283]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to UV [GO:0034644]; DNA damage checkpoint [GO:0000077]; DNA repair [GO:0006281]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; protein deubiquitination [GO:0016579]; Ras protein signal transduction [GO:0007265]; regulation of protein stability [GO:0031647]; response to ionizing radiation [GO:0010212]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96RU2-1; Sequence=Displayed; Name=2; IsoId=Q96RU2-2; Sequence=VSP_015580; Name=3; IsoId=Q96RU2-3; Sequence=VSP_057359, VSP_057360; Note=No experimental confirmation available.; 


uniprotID: Q70EK9
geneSymbol: USP51
length: 711
go: ENSG00000247746;
name:
Ubiquitin carboxyl-terminal hydrolase 51 (EC 3.4.19.12) (Deubiquitinating enzyme 51) (Ubiquitin thioesterase 51) (Ubiquitin-specific-processing protease 51)

sequence:

opentargets:
chromosome [GO:0005694]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; zinc ion binding [GO:0008270]; DNA repair [GO:0006281]; histone deubiquitination [GO:0016578]; protein deubiquitination [GO:0016579]; regulation of cell cycle process [GO:0010564]; regulation of double-strand break repair via homologous recombination [GO:0010569]; regulation of double-strand break repair via nonhomologous end joining [GO:2001032]; regulation of response to DNA damage stimulus [GO:2001020]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000305|PubMed:27083998}. Note=Upon DNA damage, chromatin-bound USP51 disassociates from chromatin immediately following DNA damage and reassociates with chromatin following DNA repair. {ECO:0000269|PubMed:27083998}.


uniprotID: Q14157
geneSymbol: UBAP2L
name: Ubiquitin-associated protein 2-like (Protein NICE-4)
length: 1087
go: ENSG00000143569;
snps: rs17849745
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; RNA binding [GO:0003723]; binding of sperm to zona pellucida [GO:0007339]; hematopoietic stem cell homeostasis [GO:0061484]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q14157-2; Sequence=Displayed; Name=2; IsoId=Q14157-1; Sequence=VSP_019417; Name=3; IsoId=Q14157-3; Sequence=VSP_021728; Name=4; IsoId=Q14157-4; Sequence=VSP_038235, VSP_019417; Note=No experimental confirmation available. {ECO:0000244|PubMed:19608861, ECO:0000244|PubMed:24129315}; Name=5; IsoId=Q14157-5; Sequence=VSP_042167; 


uniprotID: Q70EL1
geneSymbol: USP54
name: Inactive ubiquitin carboxyl-terminal hydrolase 54 (Inactive ubiquitin-specific peptidase 54)
length: 1684
go: ENSG00000166348;
opentargets: thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; protein deubiquitination [GO:0016579]
snps: rs1618542 rs4619071 rs7083344
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q70EL1-1; Sequence=Displayed; Name=2; IsoId=Q70EL1-4; Sequence=VSP_026525, VSP_026526; Note=No experimental confirmation available.; Name=3; IsoId=Q70EL1-6; Sequence=VSP_035675, VSP_035676; Note=No experimental confirmation available.; Name=4; IsoId=Q70EL1-7; Sequence=VSP_029922; Note=No experimental confirmation available.; Name=5; IsoId=Q70EL1-8; Sequence=VSP_035674; Name=6; IsoId=Q70EL1-9; Sequence=VSP_035674, VSP_035678; Name=7; IsoId=Q70EL1-10; Sequence=VSP_035674, VSP_035677; 


uniprotID: O75604
geneSymbol: USP2
reactome: R-HSA-5357786;R-HSA-5357905;R-HSA-5357956;R-HSA-5689880;R-HSA-6804757;
pdb: 2HD5;2IBI;3NHE;3V6C;3V6E;5XU8;5XVE;
length: 605
go: ENSG00000036672;
snps: rs33929148 rs45533837
name:
Ubiquitin carboxyl-terminal hydrolase 2 (EC 3.4.19.12) (41 kDa ubiquitin-specific protease) (Deubiquitinating enzyme 2) (Ubiquitin thioesterase 2) (Ubiquitin-specific-processing protease 2)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; cyclin binding [GO:0030332]; cysteine-type endopeptidase activity [GO:0004197]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; ubiquitin protein ligase binding [GO:0031625]; cell cycle [GO:0007049]; circadian behavior [GO:0048512]; circadian regulation of gene expression [GO:0032922]; entrainment of circadian clock by photoperiod [GO:0043153]; locomotor rhythm [GO:0045475]; muscle organ development [GO:0007517]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of mitotic cell cycle [GO:0045931]; protein deubiquitination [GO:0016579]; protein stabilization [GO:0050821]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=USP2a, USP2-69; IsoId=O75604-1; Sequence=Displayed; Name=2; Synonyms=USP2b; IsoId=O75604-2; Sequence=VSP_005256, VSP_005257; Note=No experimental confirmation available.; Name=3; IsoId=O75604-3; Sequence=VSP_039559; Name=4; IsoId=O75604-4; Sequence=VSP_039560; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O88623}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:O88623}. Note=Localizes in the spermatid head in late-elongating spermatids in the thin area between the outer acrosomal membrane and the plasma membrane. {ECO:0000250|UniProtKB:Q5U349}.; SUBCELLULAR LOCATION: Isoform 4: Nucleus {ECO:0000250|UniProtKB:Q5U349}. Membrane {ECO:0000250|UniProtKB:O88623}; Peripheral membrane protein {ECO:0000305}. Cytoplasm {ECO:0000250|UniProtKB:O88623}. Note=Predominantly expressed at membranes. {ECO:0000250|UniProtKB:O88623}.


uniprotID: Q9H347
geneSymbol: UBQLN3
pdb: 1WX7;1YQB;2DAH;
name: Ubiquilin-3
length: 655
go: ENSG00000175520;
snps: rs2234446 rs2234449 rs2234450 rs2234451 rs2234455 rs2227271
sequence:


uniprotID: Q92575
geneSymbol: UBXN4
pdb: 2KXJ;
name: UBX domain-containing protein 4 (Erasin) (UBX domain-containing protein 2)
length: 508
go: ENSG00000144224;
snps: rs2304602
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; nuclear envelope [GO:0005635]; response to unfolded protein [GO:0006986]; ubiquitin-dependent ERAD pathway [GO:0030433]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16968747}; Peripheral membrane protein {ECO:0000269|PubMed:16968747}. Nucleus envelope {ECO:0000269|PubMed:16968747}. Note=Both the N- and the C-terminus face the cytosol. Also found in the nucleus envelope contiguous to the ER. {ECO:0000269|PubMed:16968747}.


uniprotID: Q8IYU4
geneSymbol: UBQLNL
name: Ubiquilin-like protein
length: 475
go: ENSG00000175518;
snps: rs7933557 rs3802978 rs2047456 rs16932225 rs2017434 rs2017433 rs393044 rs12223282
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYU4-1; Sequence=Displayed; Name=2; IsoId=Q8IYU4-2; Sequence=VSP_028833; Note=No experimental confirmation available.; 


uniprotID: Q9BZV1
geneSymbol: UBXN6
name: UBX domain-containing protein 6 (UBX domain-containing protein 1)
length: 441
go: ENSG00000167671;
snps: rs1127888 rs35436704
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; extracellular exosome [GO:0070062]; extrinsic component of membrane [GO:0019898]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; endosome to lysosome transport via multivesicular body sorting pathway [GO:0032510]; ERAD pathway [GO:0036503]; macroautophagy [GO:0016236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BZV1-1; Sequence=Displayed; Name=2; IsoId=Q9BZV1-2; Sequence=VSP_007453; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18656546}. Cytoplasm, cytosol {ECO:0000269|PubMed:19275885}. Membrane {ECO:0000269|PubMed:19275885}; Peripheral membrane protein {ECO:0000269|PubMed:19275885}. Nucleus {ECO:0000269|PubMed:18656546}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:18656546}. Early endosome membrane {ECO:0000269|PubMed:21822278}; Peripheral membrane protein {ECO:0000305|PubMed:19275885}. Late endosome membrane {ECO:0000269|PubMed:21822278}; Peripheral membrane protein {ECO:0000305|PubMed:19275885}. Lysosome membrane {ECO:0000269|PubMed:21822278, ECO:0000269|PubMed:27753622}; Peripheral membrane protein {ECO:0000305|PubMed:19275885}. Note=Localizes at the centrosome both in interphase and during mitosis (PubMed:18656546). May be recruited to endosomal and lysosomal membranes as part of a ternary complex with CAV1 and VCP (PubMed:21822278). Recruited to damaged lysosomes decorated with K48-linked ubiquitin chains (PubMed:27753622). {ECO:0000269|PubMed:18656546, ECO:0000269|PubMed:21822278, ECO:0000269|PubMed:27753622}.


uniprotID: Q8WVF2
geneSymbol: UCMA
reactome: R-HSA-8940973;
length: 138
go: ENSG00000165623;
opentargets: extracellular matrix [GO:0031012]; negative regulation of osteoblast differentiation [GO:0045668]
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
Unique cartilage matrix-associated protein [Cleaved into: Unique cartilage matrix-associated protein C-terminal fragment (Ucma-C) (Gla-rich protein) (GRP)]

sequence:
MTWRQAVLLSCFSAVVLLSMLREGTSVSVGTMQMAGEEASEDAKQKIFMQESDASNFLKRRGKRSPKSRDEVNVENRQKLRVDELRREYYEEQRNEFENFVEEQNDEQEERSREAVEQWRQWHYDGLHPSYLYNRHHT


uniprotID: P15374
geneSymbol: UCHL3
reactome: R-HSA-5689603;R-HSA-8866652;R-HSA-8951664;
pdb: 1UCH;1XD3;
length: 230
go: ENSG00000118939;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Ubiquitin carboxyl-terminal hydrolase isozyme L3 (UCH-L3) (EC 3.4.19.12) (Ubiquitin thioesterase L3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; NEDD8-specific protease activity [GO:0019784]; peptidase activity [GO:0008233]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; ubiquitin binding [GO:0043130]; post-translational protein modification [GO:0043687]; protein catabolic process [GO:0030163]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q9HA47
geneSymbol: UCK1
reactome: R-HSA-73614;
pdb: 2JEO;2UVQ;
length: 277
go: ENSG00000130717;
name:
Uridine-cytidine kinase 1 (UCK 1) (EC 2.7.1.48) (Cytidine monophosphokinase 1) (Uridine monophosphokinase 1)

sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; nucleoside kinase activity [GO:0019206]; uridine kinase activity [GO:0004849]; CTP salvage [GO:0044211]; pyrimidine nucleoside salvage [GO:0043097]; UMP salvage [GO:0044206]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9HA47-1; Sequence=Displayed; Name=2; IsoId=Q9HA47-2; Sequence=VSP_041269; Name=3; IsoId=Q9HA47-3; Sequence=VSP_045174; Name=4; IsoId=Q9HA47-4; Sequence=VSP_056748; 


uniprotID: P06133
geneSymbol: UGT2B4
reactome: R-HSA-156588;
length: 528
go: ENSG00000156096;
drug: DB08907;DB00318;DB06292;DB00712;DB06741;DB01050;DB00295;
snps: rs41299974 rs41299976 rs41299978 rs41300004 rs72552707 rs13119049 rs41298245
name:
UDP-glucuronosyltransferase 2B4 (UDPGT 2B4) (EC 2.4.1.17) (HLUG25) (Hyodeoxycholic acid-specific UDPGT) (UDPGTh-1)

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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P06133-1; Sequence=Displayed; Name=2; IsoId=P06133-2; Sequence=VSP_056679, VSP_056680; Note=No experimental confirmation available.; Name=3; IsoId=P06133-3; Sequence=VSP_056869, VSP_056870; Note=No experimental confirmation available.; 


uniprotID: P22309
geneSymbol: UGT1A1
reactome: R-HSA-156588;R-HSA-189483;R-HSA-5579002;
length: 533
go: ENSG00000241635;
name:
UDP-glucuronosyltransferase 1-1 (UDPGT 1-1) (UGT1*1) (UGT1-01) (UGT1.1) (EC 2.4.1.17) (Bilirubin-specific UDPGT isozyme 1) (hUG-BR1) (UDP-glucuronosyltransferase 1-A) (UGT-1A) (UGT1A) (UDP-glucuronosyltransferase 1A1)

sequence:

opentargets:
cytochrome complex [GO:0070069]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum chaperone complex [GO:0034663]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; 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]; steroid binding [GO:0005496]; UDP-glycosyltransferase activity [GO:0008194]; acute-phase response [GO:0006953]; animal organ regeneration [GO:0031100]; bilirubin conjugation [GO:0006789]; biphenyl catabolic process [GO:0070980]; cellular glucuronidation [GO:0052695]; cellular response to estradiol stimulus [GO:0071392]; cellular response to ethanol [GO:0071361]; cellular response to glucocorticoid stimulus [GO:0071385]; drug metabolic process [GO:0017144]; estrogen metabolic process [GO:0008210]; flavone metabolic process [GO:0051552]; flavonoid glucuronidation [GO:0052696]; heme catabolic process [GO:0042167]; heterocycle metabolic process [GO:0046483]; liver development [GO:0001889]; 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]; response to lipopolysaccharide [GO:0032496]; response to nutrient [GO:0007584]; response to starvation [GO:0042594]; retinoic acid metabolic process [GO:0042573]; steroid metabolic process [GO:0008202]; xenobiotic glucuronidation [GO:0052697]

drug:
DB01048;DB00316;DB00173;DB01076;DB06626;DB00586;DB08930;DB06210;DB00530;DB00783;DB00773;DB00973;DB04953;DB01544;DB00712;DB01095;DB06741;DB01050;DB05039;DB00328;DB00762;DB00678;DB00227;DB00295;DB00688;DB01024;DB00704;DB00788;DB04868;DB06589;DB00818;DB06817;DB08896;DB01045;DB00641;DB00398;DB00870;DB01420;DB00197;

snps:
rs111033541 rs72551339 rs4148323 rs56059937 rs72551341 rs72551342 rs72551343 rs35003977 rs35350960 rs754922685 rs72551345 rs397978903 rs72551347 rs62625011 rs72551348 rs750453538 rs139607673 rs72551351 rs55750087 rs55750087 rs72551352 rs748989741 rs72551353 rs72551354 rs901936528 rs367897068 rs28934877 rs72551355 rs778766461 rs72551356 rs758411577 rs34993780 rs1042709 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=i1; IsoId=P22309-1; Sequence=Displayed; Name=2; Synonyms=i2, UGT1A1s; IsoId=P22309-2; Sequence=VSP_053958; 

location:
SUBCELLULAR LOCATION: Isoform 1: Microsome {ECO:0000269|PubMed:17187418}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:17187418}; Single-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Microsome {ECO:0000269|PubMed:17187418}. Endoplasmic reticulum {ECO:0000305|PubMed:17187418}.


uniprotID: Q8IX04
geneSymbol: UEVLD
pdb: 2I6T;3DL2;
length: 471
go: ENSG00000151116;
name:
Ubiquitin-conjugating enzyme E2 variant 3 (UEV-3) (EV and lactate/malate dehydrogenase domain-containing protein)

sequence:

opentargets:
extracellular exosome [GO:0070062]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; carbohydrate metabolic process [GO:0005975]; carboxylic acid metabolic process [GO:0019752]; cellular protein modification process [GO:0006464]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1 {ECO:0000269|PubMed:14702039}; IsoId=Q8IX04-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:12427560}; IsoId=Q8IX04-2; Sequence=VSP_023350, VSP_023351; Name=3 {ECO:0000269|PubMed:15489334}; IsoId=Q8IX04-3; Sequence=VSP_023347, VSP_023350, VSP_023351; Name=4; IsoId=Q8IX04-4; Sequence=VSP_023346, VSP_023350, VSP_023351; Name=5; IsoId=Q8IX04-5; Sequence=VSP_023348, VSP_023349; Name=6; IsoId=Q8IX04-6; Sequence=VSP_023347; Note=No experimental confirmation available.; Name=7; IsoId=Q8IX04-7; Sequence=VSP_045986, VSP_045987, VSP_045988; Note=No experimental confirmation available.; 


uniprotID: O60701
geneSymbol: UGDH
reactome: R-HSA-173599;
pdb: 2Q3E;2QG4;3ITK;3KHU;3PRJ;3PTZ;3TDK;3TF5;4EDF;4RJT;5TJH;5VR8;5W4X;6C4J;6C4K;
name: UDP-glucose 6-dehydrogenase (UDP-Glc dehydrogenase) (UDP-GlcDH) (UDPGDH) (EC 1.1.1.22)
length: 494
go: ENSG00000109814;
drug: DB00157;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; electron transfer activity [GO:0009055]; NAD binding [GO:0051287]; UDP-glucose 6-dehydrogenase activity [GO:0003979]; gastrulation with mouth forming second [GO:0001702]; glycosaminoglycan biosynthetic process [GO:0006024]; UDP-glucose metabolic process [GO:0006011]; UDP-glucuronate biosynthetic process [GO:0006065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60701-1; Sequence=Displayed; Name=2; IsoId=O60701-2; Sequence=VSP_042550; Note=No experimental confirmation available.; Name=3; IsoId=O60701-3; Sequence=VSP_046234; Note=No experimental confirmation available.; 


uniprotID: Q9NYU2
geneSymbol: UGGT1
reactome: R-HSA-901032;
length: 1555
go: ENSG00000136731;
name:
UDP-glucose:glycoprotein glucosyltransferase 1 (UGT1) (hUGT1) (EC 2.4.1.-) (UDP--Glc:glycoprotein glucosyltransferase) (UDP-glucose ceramide glucosyltransferase-like 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum quality control compartment [GO:0044322]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; protein-containing complex [GO:0032991]; UDP-glucose:glycoprotein glucosyltransferase activity [GO:0003980]; unfolded protein binding [GO:0051082]; 'de novo' posttranslational protein folding [GO:0051084]; endoplasmic reticulum mannose trimming [GO:1904380]; ER-associated misfolded protein catabolic process [GO:0071712]; protein N-linked glycosylation via asparagine [GO:0018279]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NYU2-1; Sequence=Displayed; Name=2; IsoId=Q9NYU2-2; Sequence=VSP_036508; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:10694380}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:10694380}.


uniprotID: C9JPN9
geneSymbol: USP17L12
reactome: R-HSA-5689880;
name: Ubiquitin carboxyl-terminal hydrolase 17-like protein 12 (EC 3.4.19.12)
length: 530
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
sequence:


uniprotID: Q9H0I9
geneSymbol: TKTL2
name: Transketolase-like protein 2 (EC 2.2.1.1)
length: 626
go: ENSG00000151005;
opentargets: cytoplasm [GO:0005737]; metal ion binding [GO:0046872]; transketolase activity [GO:0004802]
snps: rs3811750 rs11735477
sequence:


uniprotID: Q8TEL6
geneSymbol: TRPC4AP
reactome: R-HSA-3295583;
length: 797
go: ENSG00000100991;
name:
Short transient receptor potential channel 4-associated protein (Trp4-associated protein) (Trpc4-associated protein) (Protein TAP1) (TNF-receptor ubiquitous scaffolding/signaling protein) (Protein TRUSS)

sequence:

opentargets:
Cul4A-RING E3 ubiquitin ligase complex [GO:0031464]; plasma membrane [GO:0005886]; calcium channel activity [GO:0005262]; phosphatase binding [GO:0019902]; calcium ion transmembrane transport [GO:0070588]; hair follicle maturation [GO:0048820]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TEL6-1; Sequence=Displayed; Name=2; IsoId=Q8TEL6-2; Sequence=VSP_003982; Note=No experimental confirmation available.; Name=3; IsoId=Q8TEL6-3; Sequence=VSP_054231; 


uniprotID: Q96IK0
geneSymbol: TMEM101
name: Transmembrane protein 101 (Putative NF-kappa-B-activating protein 130)
length: 257
go: ENSG00000091947;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]


uniprotID: O94900
geneSymbol: TOX
length: 526
go: ENSG00000198846;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
name:
Thymocyte selection-associated high mobility group box protein TOX (Thymus high mobility group box protein TOX)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; lymph node development [GO:0048535]; lymphocyte differentiation [GO:0030098]; Peyer's patch development [GO:0048541]; positive regulation of natural killer cell differentiation [GO:0032825]


uniprotID: Q9P0U1
geneSymbol: TOMM7
reactome: R-HSA-1268020;R-HSA-5205685;
sequence: MVKLSKEAKQRLQQLFKGSQFAIRWGFIPLVIYLGFKRGADPGMPEPTVLSLLWG
length: 55
go: ENSG00000196683;
name:
Mitochondrial import receptor subunit TOM7 homolog (Translocase of outer membrane 7 kDa subunit homolog)

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrial outer membrane translocase complex [GO:0005742]; mitochondrion [GO:0005739]; protein transmembrane transporter activity [GO:0008320]; positive regulation of mitophagy in response to mitochondrial depolarization [GO:0098779]; positive regulation of protein targeting to mitochondrion [GO:1903955]; protein import into mitochondrial matrix [GO:0030150]; protein targeting to mitochondrion [GO:0006626]; regulation of protein stability [GO:0031647]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:12198123}; Single-pass membrane protein {ECO:0000269|PubMed:12198123}.


uniprotID: Q9ULQ1
geneSymbol: TPCN1
reactome: R-HSA-2672351;
name: Two pore calcium channel protein 1 (Voltage-dependent calcium channel protein TPC1)
length: 816
go: ENSG00000186815;
sequence:

opentargets:
endosome [GO:0005768]; endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; identical protein binding [GO:0042802]; NAADP-sensitive calcium-release channel activity [GO:0072345]; voltage-gated calcium channel activity [GO:0005245]; ion transmembrane transport [GO:0034220]; positive regulation of autophagy [GO:0010508]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9ULQ1-1; Sequence=Displayed; Name=2; IsoId=Q9ULQ1-2; Sequence=VSP_023003, VSP_023004, VSP_023005; Name=3; IsoId=Q9ULQ1-3; Sequence=VSP_041346; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:19620632}; Multi-pass membrane protein {ECO:0000269|PubMed:19620632}. Endosome membrane {ECO:0000269|PubMed:19620632}; Multi-pass membrane protein {ECO:0000269|PubMed:19620632}.


uniprotID: Q96NM4
geneSymbol: TOX2
name: TOX high mobility group box family member 2 (Granulosa cell HMG box protein 1) (GCX-1)
length: 488
go: ENSG00000124191;
snps: rs6103584
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96NM4-1; Sequence=Displayed; Name=2; IsoId=Q96NM4-2; Sequence=VSP_002187; Note=No experimental confirmation available.; Name=3; IsoId=Q96NM4-3; Sequence=VSP_045645, VSP_002187; Note=No experimental confirmation available.; Name=4; IsoId=Q96NM4-4; Sequence=VSP_047108, VSP_002187; 


uniprotID: Q9NRR2
geneSymbol: TPSG1
length: 321
snps: rs760357 rs4984638 rs11248860 rs1004041
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Tryptase gamma (EC 3.4.21.-) (Serine protease 31) (Transmembrane tryptase) [Cleaved into: Tryptase gamma light chain; Tryptase gamma heavy chain]

sequence:

opentargets:
extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; proteolysis [GO:0006508]


uniprotID: Q9NRE2
geneSymbol: TSHZ2
name: Teashirt homolog 2 (Ovarian cancer-related protein 10-2) (OVC10-2) (Zinc finger protein 218)
length: 1034
go: ENSG00000182463;
snps: rs739869 rs6097319
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; multicellular organism development [GO:0007275]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRE2-1; Sequence=Displayed; Name=2; IsoId=Q9NRE2-2; Sequence=VSP_046071; Note=No experimental confirmation available.; 


uniprotID: P0CV98
geneSymbol: TSPY3
name: Testis-specific Y-encoded protein 3
length: 308
sequence:

opentargets:
nucleus [GO:0005634]; cell differentiation [GO:0030154]; gonadal mesoderm development [GO:0007506]; nucleosome assembly [GO:0006334]; spermatogenesis [GO:0007283]


uniprotID: O60637
geneSymbol: TSPAN3
name: Tetraspanin-3 (Tspan-3) (Tetraspanin TM4-A) (Transmembrane 4 superfamily member 8)
length: 253
go: ENSG00000140391;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60637-1; Sequence=Displayed; Name=2; IsoId=O60637-2; Sequence=VSP_042679; Note=No experimental confirmation available.; Name=3; IsoId=O60637-3; Sequence=VSP_043519; Note=No experimental confirmation available.; 


uniprotID: Q9H1Z9
geneSymbol: TSPAN10
name: Tetraspanin-10 (Tspan-10) (Oculospanin)
length: 355
snps: rs34896443 rs34379910
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; enzyme binding [GO:0019899]; cell surface receptor signaling pathway [GO:0007166]; establishment of protein localization to organelle [GO:0072594]


uniprotID: Q99614
geneSymbol: TTC1
name: Tetratricopeptide repeat protein 1 (TPR repeat protein 1)
length: 292
go: ENSG00000113312;
sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal membrane [GO:0005778]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]


uniprotID: Q6PF05
geneSymbol: TTC23L
name: Tetratricopeptide repeat protein 23-like
length: 361
go: ENSG00000205838;
snps: rs6451173 rs6866035 rs34566695 rs35769440 rs34702907 rs35665026
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; spindle [GO:0005819]; response to endoplasmic reticulum stress [GO:0034976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PF05-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; IsoId=Q6PF05-2; Sequence=VSP_033814, VSP_033815; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q6PF05-3; Sequence=VSP_033816; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:25751302}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:25751302}. Midbody {ECO:0000269|PubMed:25751302}. Note=Exhibits dynamic subcellular localization during the cell cycle. In prophase cells, detected on split centrosomes. Translocates to the mitotic spindles during metaphase and early anaphase, then to the midbody and cleavage furrow in late anaphase. {ECO:0000269|PubMed:25751302}.


uniprotID: O95857
geneSymbol: TSPAN13
name: Tetraspanin-13 (Tspan-13) (Tetraspan NET-6) (Transmembrane 4 superfamily member 13)
length: 204
go: ENSG00000106537;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; calcium channel regulator activity [GO:0005246]; cell surface receptor signaling pathway [GO:0007166]; regulation of calcium ion transmembrane transport [GO:1903169]


uniprotID: P19075
geneSymbol: TSPAN8
name: Tetraspanin-8 (Tspan-8) (Transmembrane 4 superfamily member 3) (Tumor-associated antigen CO-029)
length: 237
go: ENSG00000127324;
snps: rs17849952 rs3763978 rs1051334
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; integrin binding [GO:0005178]; cell surface receptor signaling pathway [GO:0007166]; negative regulation of blood coagulation [GO:0030195]; regulation of gene expression [GO:0010468]; spermatogenesis [GO:0007283]


uniprotID: Q86WT1
geneSymbol: TTC30A
reactome: R-HSA-5620924;
name: Tetratricopeptide repeat protein 30A (TPR repeat protein 30A)
length: 665
go: ENSG00000197557;
snps: rs28630685 rs17854236
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}.
sequence:

opentargets:
cilium [GO:0005929]; intraciliary transport particle B [GO:0030992]; intraciliary transport [GO:0042073]


uniprotID: O75954
geneSymbol: TSPAN9
name: Tetraspanin-9 (Tspan-9) (Tetraspan NET-5)
length: 239
go: ENSG00000011105;
sequence:

opentargets:
focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; tetraspanin-enriched microdomain [GO:0097197]; cell surface receptor signaling pathway [GO:0007166]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Colocalizes with GP6 in tetraspanin microdomains on the platelet surface. {ECO:0000250}.


uniprotID: Q86TZ1
geneSymbol: TTC6
name: Tetratricopeptide repeat protein 6 (TPR repeat protein 6)
length: 520
go: ENSG00000139865;
snps: rs12896790 rs17768654 rs4901284 rs17107176
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86TZ1-1; Sequence=Displayed; Name=2; IsoId=Q86TZ1-2; Sequence=VSP_056321, VSP_056322, VSP_056323, VSP_056324; Note=No experimental confirmation available.; 


uniprotID: Q9UI38
geneSymbol: PRSS50
length: 385
go: ENSG00000206549;
snps: rs34788938 rs35866901
name:
Probable threonine protease PRSS50 (EC 3.4.25.-) (Cancer/testis antigen 20) (Serine protease 50) (Testis-specific protease-like protein 50)

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extrinsic component of plasma membrane [GO:0019897]; serine-type endopeptidase activity [GO:0004252]; threonine-type endopeptidase activity [GO:0004298]; proteolysis [GO:0006508]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000305|PubMed:17283160}. Note=May also localize to cytoplasmic membranes.


uniprotID: Q9UJ04
geneSymbol: TSPYL4
name: Testis-specific Y-encoded-like protein 4 (TSPY-like protein 4)
length: 414
go: ENSG00000187189;
opentargets: nucleus [GO:0005634]; nucleosome assembly [GO:0006334]
snps: rs2232470
sequence:


uniprotID: Q6DKK2
geneSymbol: TTC19
name: Tetratricopeptide repeat protein 19, mitochondrial (TPR repeat protein 19)
length: 380
go: ENSG00000011295;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:21278747}.
sequence:

opentargets:
centrosome [GO:0005813]; midbody [GO:0030496]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; respiratory chain [GO:0070469]; mitochondrial respiratory chain complex III assembly [GO:0034551]; mitotic cytokinesis [GO:0000281]; oxidation-reduction process [GO:0055114]


uniprotID: P49638
geneSymbol: TTPA
reactome: R-HSA-8877627;
pdb: 1OIP;1OIZ;1R5L;5MUE;5MUG;
name: Alpha-tocopherol transfer protein (Alpha-TTP)
length: 278
go: ENSG00000137561;
drug: DB00163;
snps: rs397515522 rs121917849 rs143010236 rs397515524 rs34647756 rs121917850 rs35916840 rs397515526
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7887897}.
sequence:

opentargets:
cytosol [GO:0005829]; late endosome [GO:0005770]; intermembrane lipid transfer activity [GO:0120013]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; vitamin E binding [GO:0008431]; embryonic placenta development [GO:0001892]; intermembrane lipid transfer [GO:0120009]; intracellular pH reduction [GO:0051452]; lipid metabolic process [GO:0006629]; negative regulation of cell death [GO:0060548]; negative regulation of establishment of blood-brain barrier [GO:0090212]; response to nutrient [GO:0007584]; response to pH [GO:0009268]; response to toxic substance [GO:0009636]; vitamin E metabolic process [GO:0042360]; vitamin transport [GO:0051180]


uniprotID: Q15361
geneSymbol: TTF1
reactome: R-HSA-427389;R-HSA-427413;R-HSA-5683826;R-HSA-5688031;R-HSA-73762;R-HSA-73863;
length: 905
go: ENSG00000125482;
snps: rs11550314 rs8999 rs3739914 rs3739915 rs3739916 rs12336746 rs1752676
location: SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus {ECO:0000250}.
name:
Transcription termination factor 1 (TTF-1) (RNA polymerase I termination factor) (Transcription termination factor I) (TTF-I)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; cellular protein metabolic process [GO:0044267]; DNA-templated transcription, termination [GO:0006353]; negative regulation of DNA replication [GO:0008156]; termination of RNA polymerase I transcription [GO:0006363]


uniprotID: O95922
geneSymbol: TTLL1
reactome: R-HSA-8955332;
length: 423
go: ENSG00000100271;
snps: rs6003030
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
name:
Probable tubulin polyglutamylase TTLL1 (EC 6.-.-.-) (Tubulin polyglutamylase complex subunit 3) (PGs3) (Tubulin--tyrosine ligase-like protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; ATP binding [GO:0005524]; tubulin-glutamic acid ligase activity [GO:0070740]; epithelial cilium movement [GO:0003351]; protein polyglutamylation [GO:0018095]; sperm axoneme assembly [GO:0007288]; sperm flagellum movement involved in flagellated sperm motility [GO:1905419]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=A; Synonyms=TTLL1a; IsoId=O95922-1; Sequence=Displayed; Name=B; Synonyms=TTLL1b, Truncated; IsoId=O95922-2; Sequence=VSP_006671, VSP_006672; 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=O95922-4; Sequence=VSP_011825; Note=No experimental confirmation available.; 


uniprotID: A6NNM8
geneSymbol: TTLL13P
reactome: R-HSA-8955332;
length: 815
go: ENSG00000213471;
snps: rs12912620 rs2063743
name:
Tubulin polyglutamylase TTLL13P (EC 6.-.-.-) (Tubulin tyrosine ligase-like family member 13 pseudogene) (Tubulin--tyrosine ligase-like protein 13)

sequence:

opentargets:
cytosol [GO:0005829]; microtubule [GO:0005874]; ATP binding [GO:0005524]; tubulin-glutamic acid ligase activity [GO:0070740]; protein polyglutamylation [GO:0018095]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000305}; IsoId=A6NNM8-1; Sequence=Displayed; Note=Gene prediction based on similarity to mouse ortholog. {ECO:0000305}; Name=2 {ECO:0000305}; IsoId=A6NNM8-2; Sequence=VSP_052720, VSP_052721; Note=May be due to an intron retention.; 


uniprotID: O75896
geneSymbol: TUSC2
name: Tumor suppressor candidate 2 (Fusion 1 protein) (Fus-1 protein) (PDGFA-associated protein 2)
length: 110
go: ENSG00000114383;
sequence:
MGASGSKARGLWPFASAAGGGGSEAAGAEQALVRPRGRAVPPFVFTRRGSMFYDEDGDLAHEFYEETIVTKNGQKRAKLRRVHKNLIPQGIVKLDHPRIHVDFPVILYEV

opentargets:
mitochondrion [GO:0005739]; cell cycle [GO:0007049]; cell maturation [GO:0048469]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; chemokine (C-C motif) ligand 5 production [GO:0071609]; inflammatory response [GO:0006954]; interleukin-15 production [GO:0032618]; natural killer cell differentiation [GO:0001779]; negative regulation of interleukin-17 production [GO:0032700]; neutrophil mediated killing of gram-negative bacterium [GO:0070945]; phagocytosis [GO:0006909]; positive regulation of interleukin-10 production [GO:0032733]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of reactive oxygen species metabolic process [GO:2000377]; response to defense-related host reactive oxygen species production [GO:0052567]


uniprotID: Q9Y4R7
geneSymbol: TTLL3
reactome: R-HSA-8955332;
name: Tubulin monoglycylase TTLL3 (EC 6.3.2.-) (HOTTL) (Tubulin--tyrosine ligase-like protein 3)
length: 772
go: ENSG00000214021;
snps: rs3806669 rs2290302 rs2290305 rs1057278
sequence:

opentargets:
axoneme [GO:0005930]; cilium [GO:0005929]; cytosol [GO:0005829]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; ATP binding [GO:0005524]; protein-glycine ligase activity [GO:0070735]; protein-glycine ligase activity, initiating [GO:0070736]; axoneme assembly [GO:0035082]; cilium assembly [GO:0060271]; protein polyglycylation [GO:0018094]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y4R7-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9Y4R7-2; Sequence=VSP_032568, VSP_032572, VSP_032573; Name=3; IsoId=Q9Y4R7-5; Sequence=VSP_032568, VSP_032576, VSP_032577; Name=4; IsoId=Q9Y4R7-6; Sequence=VSP_032567, VSP_032572, VSP_032573; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, cilium {ECO:0000250}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}.


uniprotID: Q2TAM9
geneSymbol: TUSC1
name: Tumor suppressor candidate gene 1 protein (TSG-9) (TSG9)
length: 212
go: ENSG00000198680;
snps: rs34498078
sequence:


uniprotID: Q5VYS8
geneSymbol: TUT7
reactome: R-HSA-429947;
pdb: 5W0B;5W0M;5W0N;5W0O;
length: 1495
go: ENSG00000083223;
snps: rs2378695
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25480299}.
name:
Terminal uridylyltransferase 7 (TUTase 7) (EC 2.7.7.52) (Zinc finger CCHC domain-containing protein 6)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; miRNA binding [GO:0035198]; RNA binding [GO:0003723]; RNA uridylyltransferase activity [GO:0050265]; uridylyltransferase activity [GO:0070569]; zinc ion binding [GO:0008270]; miRNA metabolic process [GO:0010586]; negative regulation of transposition, RNA-mediated [GO:0010526]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; oocyte maturation [GO:0001556]; polyuridylation-dependent mRNA catabolic process [GO:1990074]; pre-miRNA processing [GO:0031054]; RNA 3' uridylation [GO:0071076]; RNA 3'-end processing [GO:0031123]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q5VYS8-1; Sequence=Displayed; Name=2; IsoId=Q5VYS8-2; Sequence=VSP_013837, VSP_013838; Note=No experimental confirmation available.; Name=3; IsoId=Q5VYS8-3; Sequence=VSP_013835, VSP_013836; Note=No experimental confirmation available.; Name=4; IsoId=Q5VYS8-4; Sequence=VSP_013832, VSP_013839; Note=No experimental confirmation available.; Name=5; IsoId=Q5VYS8-5; Sequence=VSP_013833, VSP_013834; Note=No experimental confirmation available.; Name=6; IsoId=Q5VYS8-6; Sequence=VSP_013840; Note=No experimental confirmation available.; 


