# annotation

uniprotID: Q8TB68
geneSymbol: PRR7
name: Proline-rich protein 7 (Synaptic proline-rich membrane protein)
length: 274
go: ENSG00000131188;
snps: rs17851889
sequence:

opentargets:
cell junction [GO:0030054]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; postsynaptic density, intracellular component [GO:0099092]; postsynaptic membrane [GO:0045211]; adaptive immune response [GO:0002250]; postsynapse to nucleus signaling pathway [GO:0099527]; T cell differentiation [GO:0030217]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TB68-1; Sequence=Displayed; Name=2; IsoId=Q8TB68-2; Sequence=VSP_032750; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21460222}; Single-pass type III membrane protein {ECO:0000305}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:P0C6T3}; Single-pass type III membrane protein {ECO:0000305}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:21460222}. Cell junction, synapse {ECO:0000269|PubMed:27458189}. Cell projection, dendrite {ECO:0000269|PubMed:27458189}. Nucleus {ECO:0000269|PubMed:27458189}. Note=Enriched in postsynaptic plasma membrane and postsynaptic densities (PSD). Accumulates in spines along with synapse maturation and colocalizes with DLG4 in a punctate pattern. Translocates from synapses to nuclei following NMDA receptor activity (By similarity). {ECO:0000250|UniProtKB:P0C6T3}.


uniprotID: Q99811
geneSymbol: PRRX2
name: Paired mesoderm homeobox protein 2 (Paired-related homeobox protein 2) (PRX-2)
length: 253
go: ENSG00000167157;
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; multicellular organism development [GO:0007275]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q5T870
geneSymbol: PRR9
name: Proline-rich protein 9
length: 116
go: ENSG00000203783;
sequence:
MSFSEQQCKQPCVPPPCLPKTQEQCQAKAEEVCLPTCQHPCQDKCLVQAQEVCLSQCQESSQEKCPQQGQEPYLPPCQDQCPPQCAEPCQELFQTKCVEVCPQKVQEKCSSPGKGK

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; structural molecule activity [GO:0005198]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]


uniprotID: A6NEY8
geneSymbol: PRORSD1P
length: 169
opentargets: aminoacyl-tRNA editing activity [GO:0002161]
name:
Putative prolyl-tRNA synthetase associated domain-containing protein 1 (PrdX deacylase domain-containing protein 1) (Prolyl-tRNA synthetase associated domain-containing protein 1 pseudogene)

sequence:
MAGAELGAALEQRLGALAIHTEVVEHPEVFTVEEMMPHIQHLKGAHSKNLFLKDKKKKNYWLVTVLHDRQINLNELAKQLGVGSGNLRFADETAMLEKLKVGQGCATPLALFCDGGDVKFVLDSAFLEGGHEKVYFHPMTNAATMGLSPEDFLTFVKMTGHDPIILNFD


uniprotID: P35998
geneSymbol: PSMC2
length: 433
go: ENSG00000161057;
name:
26S proteasome regulatory subunit 7 (26S proteasome AAA-ATPase subunit RPT1) (Proteasome 26S subunit ATPase 2) (Protein MSS1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; proteasome accessory complex [GO:0022624]; proteasome complex [GO:0000502]; proteasome regulatory particle, base subcomplex [GO:0008540]; secretory granule lumen [GO:0034774]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; proteasome-activating ATPase activity [GO:0036402]; TBP-class protein binding [GO:0017025]; neutrophil degranulation [GO:0043312]; osteoblast differentiation [GO:0001649]; positive regulation of RNA polymerase II transcriptional preinitiation complex assembly [GO:0045899]; post-translational protein modification [GO:0043687]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35998-1; Sequence=Displayed; Name=2; IsoId=P35998-2; Sequence=VSP_056178; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22078707}. Note=Colocalizes with TRIM5 in cytoplasmic bodies. {ECO:0000269|PubMed:22078707}.


uniprotID: A6NEC2
geneSymbol: NPEPPSL1
name: Puromycin-sensitive aminopeptidase-like protein (EC 3.4.11.-)
length: 478
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; metalloaminopeptidase activity [GO:0070006]; peptide binding [GO:0042277]; zinc ion binding [GO:0008270]; peptide catabolic process [GO:0043171]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A6NEC2-1; Sequence=Displayed; Name=2; IsoId=A6NEC2-2; Sequence=VSP_035110; Name=3; IsoId=A6NEC2-3; Sequence=VSP_035111, VSP_035112; 


uniprotID: P55786
geneSymbol: NPEPPS
reactome: R-HSA-983168;
name: Puromycin-sensitive aminopeptidase (PSA) (EC 3.4.11.14) (Cytosol alanyl aminopeptidase) (AAP-S)
length: 919
go: ENSG00000141279;
drug: DB05745;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10978616}. Nucleus {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; aminopeptidase activity [GO:0004177]; metalloaminopeptidase activity [GO:0070006]; peptide binding [GO:0042277]; zinc ion binding [GO:0008270]; cellular response to hypoxia [GO:0071456]; peptide catabolic process [GO:0043171]; positive regulation of protein targeting to mitochondrion [GO:1903955]; protein polyubiquitination [GO:0000209]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55786-1; Sequence=Displayed; Name=2; IsoId=P55786-2; Sequence=VSP_056446, VSP_056447; Note=No experimental confirmation available.; 


uniprotID: Q99436
geneSymbol: PSMB7
length: 277
go: ENSG00000136930;
snps: rs4574
pdb:
4R3O;4R67;5A0Q;5GJQ;5GJR;5L4G;5LE5;5LEX;5LEY;5LEZ;5LF0;5LF1;5LF3;5LF4;5LF6;5LF7;5LN3;5M32;5T0C;5T0G;5T0H;5T0I;5T0J;5VFO;5VFP;5VFQ;5VFR;5VFS;5VFT;5VFU;

name:
Proteasome subunit beta type-7 (EC 3.4.25.1) (Macropain chain Z) (Multicatalytic endopeptidase complex chain Z) (Proteasome subunit Z)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome core complex [GO:0005839]; proteasome core complex, beta-subunit complex [GO:0019774]; secretory granule lumen [GO:0034774]; endopeptidase activity [GO:0004175]; threonine-type endopeptidase activity [GO:0004298]; neutrophil degranulation [GO:0043312]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99436-1; Sequence=Displayed; Name=2; IsoId=Q99436-2; Sequence=VSP_056573, VSP_056574; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12181345, ECO:0000269|PubMed:18549262}. Nucleus {ECO:0000269|PubMed:12181345, ECO:0000269|PubMed:18549262}.


uniprotID: Q9UL46
geneSymbol: PSME2
length: 239
go: ENSG00000100911;
snps: rs7146672
reactome:
R-HSA-1169091;R-HSA-1234176;R-HSA-1236974;R-HSA-1236978;R-HSA-174084;R-HSA-174113;R-HSA-174154;R-HSA-174178;R-HSA-174184;R-HSA-180534;R-HSA-180585;R-HSA-187577;R-HSA-195253;R-HSA-202424;R-HSA-211733;R-HSA-2467813;R-HSA-2871837;R-HSA-349425;R-HSA-350562;R-HSA-382556;R-HSA-450408;R-HSA-4608870;R-HSA-4641257;R-HSA-4641258;R-HSA-5358346;R-HSA-5362768;R-HSA-5607761;R-HSA-5607764;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5632684;R-HSA-5658442;R-HSA-5668541;R-HSA-5676590;R-HSA-5678895;R-HSA-5687128;R-HSA-5689603;R-HSA-5689880;R-HSA-68827;R-HSA-68949;R-HSA-69017;R-HSA-69229;R-HSA-69481;R-HSA-69601;R-HSA-8852276;R-HSA-8854050;R-HSA-8939236;R-HSA-8939902;R-HSA-8941858;R-HSA-8948751;R-HSA-8950505;R-HSA-8951664;R-HSA-9010553;R-HSA-9020702;R-HSA-9604323;R-HSA-983168;

name:
Proteasome activator complex subunit 2 (11S regulator complex subunit beta) (REG-beta) (Activator of multicatalytic protease subunit 2) (Proteasome activator 28 subunit beta) (PA28b) (PA28beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; proteasome activator complex [GO:0008537]; proteasome complex [GO:0000502]; endopeptidase activator activity [GO:0061133]; identical protein binding [GO:0042802]; interleukin-12-mediated signaling pathway [GO:0035722]; positive regulation of endopeptidase activity [GO:0010950]; post-translational protein modification [GO:0043687]; protein deubiquitination [GO:0016579]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; regulation of proteasomal protein catabolic process [GO:0061136]


uniprotID: P61289
geneSymbol: PSME3
length: 254
go: ENSG00000131467;
name:
Proteasome activator complex subunit 3 (11S regulator complex subunit gamma) (REG-gamma) (Activator of multicatalytic protease subunit 3) (Ki nuclear autoantigen) (Proteasome activator 28 subunit gamma) (PA28g) (PA28gamma)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome activator complex [GO:0008537]; proteasome complex [GO:0000502]; endopeptidase activator activity [GO:0061133]; identical protein binding [GO:0042802]; MDM2/MDM4 family protein binding [GO:0097371]; p53 binding [GO:0002039]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; positive regulation of endopeptidase activity [GO:0010950]; post-translational protein modification [GO:0043687]; protein deubiquitination [GO:0016579]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; regulation of proteasomal protein catabolic process [GO:0061136]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P61289-1, Q12920-1; Sequence=Displayed; Name=2; IsoId=P61289-2, Q12920-2; Sequence=VSP_004516; Name=3; IsoId=P61289-3; Sequence=VSP_055047; Note=No experimental confirmation. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10657252, ECO:0000269|PubMed:12629132}. Cytoplasm {ECO:0000250}. Note=Localizes to the cytoplasm during mitosis following nuclear envelope breakdown at this distinct stage of the cell cycle which allows its interaction with MAP3K3 kinase. {ECO:0000250}.


uniprotID: P49810
geneSymbol: PSEN2
length: 448
go: ENSG00000143801;
snps: rs58973334 rs140501902 rs63749851 rs63750197 rs63750215 rs63750812 rs63749884 rs28936379
name:
Presenilin-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E5-1) (STM-2) [Cleaved into: Presenilin-2 NTF subunit; Presenilin-2 CTF subunit]

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell cortex [GO:0005938]; centrosome [GO:0005813]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; kinetochore [GO:0000776]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nuclear inner membrane [GO:0005637]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; Z disc [GO:0030018]; aspartic endopeptidase activity, intramembrane cleaving [GO:0042500]; aspartic-type endopeptidase activity [GO:0004190]; endopeptidase activity [GO:0004175]; amyloid precursor protein catabolic process [GO:0042987]; amyloid-beta metabolic process [GO:0050435]; calcium ion transport [GO:0006816]; intracellular signal transduction [GO:0035556]; membrane protein ectodomain proteolysis [GO:0006509]; Notch receptor processing [GO:0007220]; Notch receptor processing, ligand-dependent [GO:0035333]; positive regulation of catalytic activity [GO:0043085]; protein processing [GO:0016485]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P49810-1; Sequence=Displayed; Name=2; IsoId=P49810-2; Sequence=VSP_005194; Name=3; IsoId=P49810-3; Sequence=VSP_043648; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:8574969}; Multi-pass membrane protein {ECO:0000269|PubMed:8574969}. Golgi apparatus membrane {ECO:0000269|PubMed:8574969}; Multi-pass membrane protein {ECO:0000269|PubMed:8574969}.


uniprotID: Q8IYL9
geneSymbol: GPR65
reactome: R-HSA-373076;R-HSA-416476;
name: Psychosine receptor (G-protein coupled receptor 65) (T-cell death-associated gene 8 protein)
length: 337
go: ENSG00000140030;
snps: rs3742704
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; actin cytoskeleton reorganization [GO:0031532]; activation of GTPase activity [GO:0090630]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; apoptotic process [GO:0006915]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; multicellular organism development [GO:0007275]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of Rho protein signal transduction [GO:0035025]; positive regulation of stress fiber assembly [GO:0051496]; response to acidic pH [GO:0010447]


uniprotID: Q9UKA9
geneSymbol: PTBP2
pdb: 2CQ1;2MJU;4CQ1;
length: 531
go: ENSG00000117569;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Polypyrimidine tract-binding protein 2 (Neural polypyrimidine tract-binding protein) (Neurally-enriched homolog of PTB) (PTB-like protein)

sequence:

opentargets:
growth cone [GO:0030426]; neuronal cell body [GO:0043025]; spliceosomal complex [GO:0005681]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; cerebellum development [GO:0021549]; mRNA splice site selection [GO:0006376]; negative regulation of RNA splicing [GO:0033119]; regulation of neural precursor cell proliferation [GO:2000177]; spinal cord development [GO:0021510]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=nPTB1; IsoId=Q9UKA9-1; Sequence=Displayed; Name=2; Synonyms=nPTB2, PTBPLP-L; IsoId=Q9UKA9-2; Sequence=VSP_018018; Name=3; Synonyms=nPTB3, PTBPLP-L'; IsoId=Q9UKA9-3; Sequence=VSP_018015, VSP_018018; Name=4; Synonyms=nPTB4; IsoId=Q9UKA9-4; Sequence=VSP_018015; Name=5; Synonyms=nPTB5, nPTB7, PTBPLP-S; IsoId=Q9UKA9-5; Sequence=VSP_018016, VSP_018017; Name=6; Synonyms=nPTB6, nPTB8, PTBPLP-S'; IsoId=Q9UKA9-6; Sequence=VSP_018015, VSP_018016, VSP_018017; 


uniprotID: O95758
geneSymbol: PTBP3
name: Polypyrimidine tract-binding protein 3 (Regulator of differentiation 1) (Rod1)
length: 552
go: ENSG00000119314;
sequence:

opentargets:
nucleus [GO:0005634]; RNA binding [GO:0003723]; anatomical structure morphogenesis [GO:0009653]; erythrocyte maturation [GO:0043249]; mRNA processing [GO:0006397]; negative regulation of RNA splicing [GO:0033119]; regulation of cell differentiation [GO:0045595]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=3; IsoId=O95758-3; Sequence=Displayed; Name=1; IsoId=O95758-1; Sequence=VSP_035985; Name=2; IsoId=O95758-2; Sequence=VSP_035985, VSP_010867, VSP_010868; Name=4; IsoId=O95758-4; Sequence=VSP_035986; Name=5; IsoId=O95758-5; Sequence=VSP_010867; Name=6; IsoId=O95758-6; Sequence=VSP_035985, VSP_010867; Name=7; IsoId=O95758-7; Sequence=VSP_045608; Note=No experimental confirmation available.; 


uniprotID: Q9Y3E5
geneSymbol: PTRH2
reactome: R-HSA-5689880;
pdb: 1Q7S;
name: Peptidyl-tRNA hydrolase 2, mitochondrial (PTH 2) (EC 3.1.1.29) (Bcl-2 inhibitor of transcription 1)
length: 179
go: ENSG00000141378;
snps: rs730882234
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:
MPSKSLVMEYLAHPSTLGLAVGVACGMCLGWSLRVCFGMLPKSKTSKTHTDTESEASILGDSGEYKMILVVRNDLKMGKGKVAAQCSHAAVSAYKQIQRRNPEMLKQWEYCGQPKVVVKAPDEETLIALLAHAKMLGLTVSLIQDAGRTQIAPGSQTVLGIGPGPADLIDKVTGHLKLY

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrion [GO:0005739]; aminoacyl-tRNA hydrolase activity [GO:0004045]; apoptotic process [GO:0006915]; negative regulation of anoikis [GO:2000811]; negative regulation of gene expression [GO:0010629]; positive regulation of anoikis [GO:2000210]


uniprotID: Q13635
geneSymbol: PTCH1
reactome: R-HSA-373080;R-HSA-5610787;R-HSA-5632681;R-HSA-5632684;R-HSA-5635838;
pdb: 6D4H;6D4J;6DMB;6DMO;6DMY;6E1H;
name: Protein patched homolog 1 (PTC) (PTC1)
length: 1447
go: ENSG00000185920;
sequence:

opentargets:
axonal growth cone [GO:0044295]; caveola [GO:0005901]; ciliary membrane [GO:0060170]; dendritic growth cone [GO:0044294]; endocytic vesicle membrane [GO:0030666]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; midbody [GO:0030496]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; cholesterol binding [GO:0015485]; cyclin binding [GO:0030332]; hedgehog family protein binding [GO:0097108]; hedgehog receptor activity [GO:0008158]; heparin binding [GO:0008201]; patched binding [GO:0005113]; protein-containing complex binding [GO:0044877]; smoothened binding [GO:0005119]; animal organ morphogenesis [GO:0009887]; brain development [GO:0007420]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell differentiation involved in kidney development [GO:0061005]; cell fate determination [GO:0001709]; cell proliferation involved in metanephros development [GO:0072203]; cellular response to cholesterol [GO:0071397]; commissural neuron axon guidance [GO:0071679]; dorsal/ventral pattern formation [GO:0009953]; embryonic limb morphogenesis [GO:0030326]; embryonic organ development [GO:0048568]; epidermal cell fate specification [GO:0009957]; glucose homeostasis [GO:0042593]; heart morphogenesis [GO:0003007]; hindlimb morphogenesis [GO:0035137]; in utero embryonic development [GO:0001701]; keratinocyte proliferation [GO:0043616]; limb morphogenesis [GO:0035108]; liver regeneration [GO:0097421]; mammary gland duct morphogenesis [GO:0060603]; mammary gland epithelial cell differentiation [GO:0060644]; negative regulation of cell division [GO:0051782]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of multicellular organism growth [GO:0040015]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of smoothened signaling pathway [GO:0045879]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neural plate axis specification [GO:0021997]; neural tube closure [GO:0001843]; neural tube patterning [GO:0021532]; pharyngeal system development [GO:0060037]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of epidermal cell differentiation [GO:0045606]; positive regulation of transcription, DNA-templated [GO:0045893]; prostate gland development [GO:0030850]; protein localization to plasma membrane [GO:0072659]; protein processing [GO:0016485]; regulation of mitotic cell cycle [GO:0007346]; regulation of protein localization [GO:0032880]; regulation of smoothened signaling pathway [GO:0008589]; renal system development [GO:0072001]; response to chlorate [GO:0010157]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to mechanical stimulus [GO:0009612]; response to retinoic acid [GO:0032526]; smoothened signaling pathway [GO:0007224]; smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:0060831]; somite development [GO:0061053]; spinal cord motor neuron differentiation [GO:0021522]

snps:
rs199476091 rs878853845 rs115556836 rs199476092 rs201125580 rs199476093 rs138911275 rs587776689 rs878853856 rs2236405 rs779417284 rs2227968 rs357564 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=L; Synonyms=1B; IsoId=Q13635-1; Sequence=Displayed; Name=L'; Synonyms=1Ckid; IsoId=Q13635-2; Sequence=VSP_041369; Name=M; Synonyms=1C; IsoId=Q13635-3; Sequence=VSP_041371; Name=S; Synonyms=1A, 1CdeltaE2; IsoId=Q13635-4; Sequence=VSP_041370; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q61115}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q3KNS1
geneSymbol: PTCHD3
name: Patched domain-containing protein 3 (Patched-related protein)
length: 767
go: ENSG00000182077;
snps: rs12098477 rs6482626 rs12098562 rs2152099 rs2484180 rs2429485 rs2505327 rs1638630
sequence:

opentargets:
integral component of membrane [GO:0016021]; sperm midpiece [GO:0097225]; spermatid development [GO:0007286]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Localizes to the midpiece of the sperm tail. {ECO:0000269|PubMed:17904097}.


uniprotID: Q14761
geneSymbol: PTPRCAP
length: 206
go: ENSG00000213402;
snps: rs60969594
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Protein tyrosine phosphatase receptor type C-associated protein (PTPRC-associated protein) (CD45-associated protein) (CD45-AP) (Lymphocyte phosphatase-associated phosphoprotein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; defense response [GO:0006952]


uniprotID: O75127
geneSymbol: PTCD1
name: Pentatricopeptide repeat-containing protein 1, mitochondrial
length: 700
go: ENSG00000106246;
snps: rs34714513 rs35633728
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; RNA binding [GO:0003723]; tRNA binding [GO:0000049]; tRNA 3'-end processing [GO:0042780]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19651879, ECO:0000269|PubMed:21857155}. Mitochondrion matrix {ECO:0000250}.


uniprotID: Q2M3V2
geneSymbol: SOWAHA
length: 549
snps: rs40274 rs40470
name:
Ankyrin repeat domain-containing protein SOWAHA (Ankyrin repeat domain-containing protein 43) (Protein sosondowah homolog A)

sequence:


uniprotID: Q9P2T0
geneSymbol: THEG
name: Testicular haploid expressed gene protein (Cancer/testis antigen 56) (CT56)
length: 379
go: ENSG00000105549;
snps: rs2303810 rs2278287 rs10422863 rs3764656
sequence:

opentargets:
nucleus [GO:0005634]; cell differentiation [GO:0030154]; chaperone-mediated protein complex assembly [GO:0051131]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=THEG major; IsoId=Q9P2T0-1; Sequence=Displayed; Name=2; Synonyms=THEG minor; IsoId=Q9P2T0-2; Sequence=VSP_028446; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Localized predominantly in the nucleus of haploid round spermatid. {ECO:0000250}.


uniprotID: Q96A25
geneSymbol: TMEM106A
name: Transmembrane protein 106A
length: 262
go: ENSG00000184988;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96A25-1; Sequence=Displayed; Name=2; IsoId=Q96A25-2; Sequence=VSP_056642; Note=No experimental confirmation available.; 


uniprotID: Q9NUM4
geneSymbol: TMEM106B
name: Transmembrane protein 106B
length: 274
go: ENSG00000106460;
snps: rs3173615
sequence:

opentargets:
endosome [GO:0005768]; integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; dendrite morphogenesis [GO:0048813]; lysosomal transport [GO:0007041]; lysosome localization [GO:0032418]; lysosome organization [GO:0007040]; positive regulation of dendrite development [GO:1900006]

location:
SUBCELLULAR LOCATION: Late endosome membrane; Single-pass type II membrane protein. Lysosome membrane; Single-pass type II membrane protein. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: Q9BVX2
geneSymbol: TMEM106C
name: Transmembrane protein 106C (Endoplasmic reticulum membrane protein overexpressed in cancer)
length: 250
go: ENSG00000134291;
opentargets: endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]
snps: rs35000511 rs2286025
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BVX2-1; Sequence=Displayed; Name=2; IsoId=Q9BVX2-2; Sequence=VSP_019483; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|Ref.1}; Multi-pass membrane protein {ECO:0000269|Ref.1}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: H3BS89
geneSymbol: TMEM178B
name: Transmembrane protein 178B
length: 294
go: ENSG00000261115;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q86VY9
geneSymbol: TMEM200A
name: Transmembrane protein 200A
length: 491
go: ENSG00000164484;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6ZMB5
geneSymbol: TMEM184A
name: Transmembrane protein 184A
length: 413
go: ENSG00000164855;
snps: rs17852421 rs3779607
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; transport vesicle membrane [GO:0030658]; heparin binding [GO:0008201]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q4QQS1}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q4QQS1}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:Q1RMW2}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000250|UniProtKB:Q3UFJ6}; Multi-pass membrane protein {ECO:0000255}. Endosome {ECO:0000250|UniProtKB:Q3UFJ6}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:Q3UFJ6}.


uniprotID: Q69YZ2
geneSymbol: TMEM200B
length: 307
go: ENSG00000253304;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Transmembrane protein 200B (Transmembrane protein TTMA) (Two transmembrane domain-containing family member B)

sequence:


uniprotID: A6NKL6
geneSymbol: TMEM200C
length: 621
go: ENSG00000206432;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Transmembrane protein 200C (Transmembrane protein TTMA) (Two transmembrane domain-containing family member A)

sequence:


uniprotID: Q9H0A3
geneSymbol: TMEM191A
name: Transmembrane protein 191A
length: 160
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:
MMNNTDFLMLNNPWNKLCLVSMDFCFPLDFVSNLFWIFASKFIIVTGQIKADFKRTSWEAKAEGSLEPGRLKLQLASIVPLYSSLVTAGPASKIIILKRTSLPTVSPSNERAYLLPVSFTDLAHVFYLSYFSINAKSNSFSLDIIIALGIPHNTQAHFNH


uniprotID: Q9Y2B4
geneSymbol: TP53TG5
name: TP53-target gene 5 protein (TP53-inducible gene 5 protein)
length: 290
go: ENSG00000124251;
snps: rs2231616 rs2231619 rs2231620 rs2231622 rs2231623 rs2231627 rs2231628
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; intracellular signal transduction [GO:0035556]; negative regulation of cell growth [GO:0030308]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10719363}. Nucleus {ECO:0000269|PubMed:10719363}. Note=Cell cycle dependent intracellular localization.


uniprotID: Q9NYJ8
geneSymbol: TAB2
pdb: 2DAE;2WWZ;2WX0;2WX1;
length: 693
go: ENSG00000055208;
snps: rs267607101 rs267607100 rs886039238
reactome:
R-HSA-1251985;R-HSA-168638;R-HSA-202424;R-HSA-2871837;R-HSA-445989;R-HSA-450302;R-HSA-450321;R-HSA-5357956;R-HSA-5607764;R-HSA-9014325;R-HSA-9020702;R-HSA-937042;R-HSA-937072;R-HSA-975163;

name:
TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 (Mitogen-activated protein kinase kinase kinase 7-interacting protein 2) (TAK1-binding protein 2) (TAB-2) (TGF-beta-activated kinase 1-binding protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; endosome membrane [GO:0010008]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; K63-linked polyubiquitin modification-dependent protein binding [GO:0070530]; metal ion binding [GO:0046872]; activation of MAPK activity [GO:0000187]; Fc-epsilon receptor signaling pathway [GO:0038095]; heart development [GO:0007507]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; interleukin-1-mediated signaling pathway [GO:0070498]; JNK cascade [GO:0007254]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of autophagy [GO:0010507]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein kinase activity [GO:0045860]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NYJ8-1; Sequence=Displayed; Name=2; IsoId=Q9NYJ8-2; Sequence=VSP_017419, VSP_017420; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10882101}; Peripheral membrane protein {ECO:0000269|PubMed:10882101}. Cytoplasm, cytosol {ECO:0000269|PubMed:10882101}. Note=Following IL1 stimulation, translocation occurs from the membrane to cytosol.


uniprotID: Q9BSH4
geneSymbol: TACO1
reactome: R-HSA-5628897;R-HSA-611105;
length: 297
go: ENSG00000136463;
opentargets: mitochondrion [GO:0005739]; nucleus [GO:0005634]; regulation of translation [GO:0006417]
snps: rs35252424
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19503089}.
name:
Translational activator of cytochrome c oxidase 1 (Coiled-coil domain-containing protein 44) (Translational activator of mitochondrially-encoded cytochrome c oxidase I)

sequence:


uniprotID: P37837
geneSymbol: TALDO1
reactome: R-HSA-163754;R-HSA-6791055;R-HSA-6791462;R-HSA-71336;R-HSA-8950505;
pdb: 1F05;
name: Transaldolase (EC 2.2.1.2)
length: 337
go: ENSG00000177156;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular [GO:0005622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; monosaccharide binding [GO:0048029]; sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity [GO:0004801]; carbohydrate metabolic process [GO:0005975]; fructose 6-phosphate metabolic process [GO:0006002]; interleukin-12-mediated signaling pathway [GO:0035722]; pentose-phosphate shunt [GO:0006098]; pentose-phosphate shunt, non-oxidative branch [GO:0009052]; xylulose biosynthetic process [GO:0005999]


uniprotID: Q9C0I4
geneSymbol: THSD7B
reactome: R-HSA-5083635;R-HSA-5173214;
name: Thrombospondin type-1 domain-containing protein 7B
length: 1608
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: O00268
geneSymbol: TAF4
pdb: 1H3O;2P6V;
length: 1085
go: ENSG00000130699;
snps: rs6089604
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcription initiation factor TFIID subunit 4 (RNA polymerase II TBP-associated factor subunit C) (TBP-associated factor 4) (Transcription initiation factor TFIID 130 kDa subunit) (TAF(II)130) (TAFII-130) (TAFII130) (Transcription initiation factor TFIID 135 kDa subunit) (TAF(II)135) (TAFII-135) (TAFII135)

sequence:

opentargets:
cytosol [GO:0005829]; MLL1 complex [GO:0071339]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; transcription factor TFIID complex [GO:0005669]; transcription factor TFTC complex [GO:0033276]; aryl hydrocarbon receptor binding [GO:0017162]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; protein heterodimerization activity [GO:0046982]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; DNA-templated transcription, initiation [GO:0006352]; ovarian follicle development [GO:0001541]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of signal transduction by p53 class mediator [GO:1901796]; RNA polymerase II preinitiation complex assembly [GO:0051123]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]; viral process [GO:0016032]


uniprotID: Q9BVV6
geneSymbol: KIAA0586
name: Protein TALPID3
length: 1533
go: ENSG00000100578;
snps: rs772739103 rs1748986
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; photoreceptor inner segment [GO:0001917]; cilium assembly [GO:0060271]; regulation of establishment of protein localization [GO:0070201]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BVV6-1; Sequence=Displayed; Name=2; IsoId=Q9BVV6-2; Sequence=VSP_040642, VSP_040643; Note=No experimental confirmation available.; Name=3; IsoId=Q9BVV6-3; Sequence=VSP_046005, VSP_046006, VSP_046007; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q9BVV6-4; Sequence=VSP_046387, VSP_046006; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:19144723}. Photoreceptor inner segment {ECO:0000269|PubMed:26386247}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:24421332, ECO:0000269|PubMed:26386247}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:26386247}. Note=Forms a ring-like structure at the extreme distal end of both mother and daughter centrioles (PubMed:24421332). In photoreceptor cells localized to the joint between the inner and outer segments, specifically localized at the mother centriole (basal body) and the adjacent centriole as well as between the two centrioles but not in the connecting cilium (PubMed:26386247). {ECO:0000269|PubMed:24421332, ECO:0000269|PubMed:26386247}.


uniprotID: O43752
geneSymbol: STX6
reactome: R-HSA-6811438;R-HSA-6811440;
pdb: 2NPS;4J2C;
name: Syntaxin-6
length: 255
go: ENSG00000135823;
sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; cytosol [GO:0005829]; early endosome [GO:0005769]; endomembrane system [GO:0012505]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; integral component of synaptic vesicle membrane [GO:0030285]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; SNARE complex [GO:0031201]; synaptic vesicle [GO:0008021]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; SNAP receptor activity [GO:0005484]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; endocytic recycling [GO:0032456]; endosome organization [GO:0007032]; Golgi ribbon formation [GO:0090161]; Golgi vesicle transport [GO:0048193]; intracellular protein transport [GO:0006886]; regulation of cellular protein localization [GO:1903827]; regulation of protein localization [GO:0032880]; retrograde transport, endosome to Golgi [GO:0042147]; synaptic vesicle to endosome fusion [GO:0016189]; vesicle docking [GO:0048278]; vesicle fusion [GO:0006906]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43752-1; Sequence=Displayed; Name=2; IsoId=O43752-2; Sequence=VSP_054763; 

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


uniprotID: P61956
geneSymbol: SUMO2
sequence: MADEKPKEGVKTENNDHINLKVAGQDGSVVQFKIKRHTPLSKLMKAYCERQGLSMRQIRFRFDGQPINETDTPAQLEMEDEDTIDVFQQQTGGVY
length: 95
go: ENSG00000188612;
snps: rs17850328
location: SUBCELLULAR LOCATION: Nucleus. Nucleus, PML body.
reactome:
R-HSA-196791;R-HSA-3065676;R-HSA-3065678;R-HSA-3065679;R-HSA-3108214;R-HSA-3232118;R-HSA-3899300;R-HSA-4085377;R-HSA-4090294;R-HSA-4551638;R-HSA-4570464;R-HSA-4615885;R-HSA-5693607;R-HSA-5696395;

pdb:
1WM2;1WM3;1WZ0;1Z5Q;2AWT;2CKH;2D07;2IO0;2IO3;2IYD;2N1W;2N9E;2RPQ;3UIN;3UIO;3ZO5;4BKG;4NPN;5D2M;5ELU;5EQL;5GHB;5GHC;

name:
Small ubiquitin-related modifier 2 (SUMO-2) (HSMT3) (SMT3 homolog 2) (SUMO-3) (Sentrin-2) (Ubiquitin-like protein SMT3B) (Smt3B)

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; protein tag [GO:0031386]; RNA binding [GO:0003723]; SUMO transferase activity [GO:0019789]; transcription corepressor binding [GO:0001222]; ubiquitin protein ligase binding [GO:0031625]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein sumoylation [GO:0016925]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P61956-1; Sequence=Displayed; Name=2; IsoId=P61956-2; Sequence=VSP_042351; 


uniprotID: Q7L0J3
geneSymbol: SV2A
reactome: R-HSA-5250955;R-HSA-5250968;R-HSA-5250981;R-HSA-5250992;
pdb: 4V11;
name: Synaptic vesicle glycoprotein 2A
length: 742
go: ENSG00000159164;
drug: DB01202;
sequence:

opentargets:
cell-cell junction [GO:0005911]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of synaptic vesicle membrane [GO:0030285]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; presynaptic active zone [GO:0048786]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; protein kinase binding [GO:0019901]; transmembrane transporter activity [GO:0022857]; cellular calcium ion homeostasis [GO:0006874]; regulation of gamma-aminobutyric acid secretion [GO:0014052]; synaptic vesicle priming [GO:0016082]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L0J3-1; Sequence=Displayed; Name=2; IsoId=Q7L0J3-2; Sequence=VSP_019265; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse {ECO:0000250|UniProtKB:Q9JIS5}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q02563}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q02563}. Note=Enriched in chromaffin granules, not present in adrenal microsomes. Associated with both insulin granules and synaptic-like microvesicles in insulin-secreting cells of the pancreas (By similarity). Colocalizes with ATP2B1 at photoreceptor synaptic terminals. {ECO:0000250|UniProtKB:Q02563, ECO:0000250|UniProtKB:Q9JIS5}.


uniprotID: Q9BX26
geneSymbol: SYCP2
reactome: R-HSA-1221632;
name: Synaptonemal complex protein 2 (SCP-2) (Synaptonemal complex lateral element protein) (hsSCP2)
length: 1530
go: ENSG00000196074;
snps: rs13039338 rs1359836 rs6071006 rs6128714
sequence:

opentargets:
lateral element [GO:0000800]; nucleus [GO:0005634]; synaptonemal complex [GO:0000795]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; cell division [GO:0051301]; female meiotic nuclear division [GO:0007143]; fertilization [GO:0009566]; male genitalia morphogenesis [GO:0048808]; male meiotic nuclear division [GO:0007140]; negative regulation of apoptotic process [GO:0043066]; synaptonemal complex assembly [GO:0007130]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9CUU3}. Chromosome {ECO:0000250|UniProtKB:Q9CUU3}. Note=In axial/lateral elements of the tripartite segments of synaptonemal complexes. {ECO:0000250|UniProtKB:Q9CUU3}.


uniprotID: P60508
geneSymbol: ERVFRD-1
pdb: 1Y4M;
length: 538
go: ENSG00000244476;
name:
Syncytin-2 (Endogenous retrovirus group FRD member 1) (Envelope polyprotein) (HERV-FRD) (HERV-FRD_6p24.1 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; syncytium formation [GO:0006949]; syncytium formation by plasma membrane fusion [GO:0000768]

location:
SUBCELLULAR LOCATION: Virion {ECO:0000305}.; SUBCELLULAR LOCATION: Surface protein: Cell membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=The surface protein is not anchored to the membrane, but localizes to the extracellular surface through its binding to TM. {ECO:0000250|UniProtKB:Q9UQF0}.; SUBCELLULAR LOCATION: Transmembrane protein: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000255}.


uniprotID: P47897
geneSymbol: QARS
reactome: R-HSA-2408517;R-HSA-379716;R-HSA-379726;
pdb: 4R3Z;4YE6;4YE8;4YE9;
name: Glutamine--tRNA ligase (EC 6.1.1.18) (Glutaminyl-tRNA synthetase) (GlnRS)
length: 775
go: ENSG00000172053;
drug: DB00130;
snps: rs587777331 rs587777333 rs587777332 rs587777334
sequence:

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; glutamine-tRNA ligase activity [GO:0004819]; protein kinase binding [GO:0019901]; protein kinase inhibitor activity [GO:0004860]; brain development [GO:0007420]; glutaminyl-tRNA aminoacylation [GO:0006425]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of stress-activated MAPK cascade [GO:0032873]; negative regulation of transcription, DNA-templated [GO:0045892]; tRNA aminoacylation for protein translation [GO:0006418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P47897-1; Sequence=Displayed; Name=2; IsoId=P47897-2; Sequence=VSP_055107; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}. Cytoplasm {ECO:0000269|PubMed:24656866}.


uniprotID: Q8WUY1
geneSymbol: THEM6
name: Protein THEM6 (Mesenchymal stem cell protein DSCD75) (Thioesterase superfamily member 6)
length: 208
go: ENSG00000130193;
opentargets: extracellular region [GO:0005576]
snps: rs17851711
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: P59541
geneSymbol: TAS2R30
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 30 (T2R30) (Taste receptor type 2 member 47) (T2R47)
length: 319
go: ENSG00000256188;
snps: rs2599404
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:


uniprotID: P59540
geneSymbol: TAS2R46
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 46 (T2R46) (Taste receptor type 2 member 54) (T2R54)
length: 309
go: ENSG00000226761;
snps: rs2708380
sequence:

opentargets:
ciliary membrane [GO:0060170]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bitter taste receptor activity [GO:0033038]; G protein-coupled receptor activity [GO:0004930]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; G protein-coupled receptor signaling pathway [GO:0007186]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:19628819}; Multi-pass membrane protein {ECO:0000269|PubMed:19628819}. Cell projection, cilium membrane {ECO:0000269|PubMed:19628819}. Note=In airway epithelial cells, localizes to motile cilia.


uniprotID: Q96FV9
geneSymbol: THOC1
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72187;
pdb: 1WXP;
name: THO complex subunit 1 (Tho1) (Nuclear matrix protein p84) (p84N5) (hTREX84)
length: 657
go: ENSG00000079134;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; THO complex [GO:0000347]; THO complex part of transcription export complex [GO:0000445]; transcription export complex [GO:0000346]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; apoptotic process [GO:0006915]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; negative regulation of DNA damage checkpoint [GO:2000002]; negative regulation of isotype switching to IgA isotypes [GO:0048297]; positive regulation of DNA-templated transcription, elongation [GO:0032786]; regulation of DNA recombination [GO:0000018]; regulation of DNA-templated transcription, elongation [GO:0032784]; replication fork processing [GO:0031297]; RNA export from nucleus [GO:0006405]; RNA processing [GO:0006396]; RNA splicing [GO:0008380]; signal transduction [GO:0007165]; viral mRNA export from host cell nucleus [GO:0046784]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96FV9-1; Sequence=Displayed; Name=2; Synonyms=p84N5s; IsoId=Q96FV9-2; Sequence=VSP_038073, VSP_038074; Note=May be due to an intron retention.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus speckle. Nucleus, nucleoplasm. Nucleus matrix. Cytoplasm. Note=Can shuttle between the nucleus and cytoplasm. Nuclear localization is required for induction of apoptotic cell death. Translocates to the cytoplasm during the early phase of apoptosis execution.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.


uniprotID: Q9NYW3
geneSymbol: TAS2R7
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 7 (T2R7) (Taste receptor family B member 4) (TRB4)
length: 318
go: ENSG00000121377;
snps: rs11838055 rs3759251 rs619381
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bitter taste receptor activity [GO:0033038]; G protein-coupled receptor activity [GO:0004930]; taste receptor activity [GO:0008527]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: P0C7N4
geneSymbol: TMEM191B
name: Transmembrane protein 191B
length: 346
go: ENSG00000278558;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:


uniprotID: Q5T4T1
geneSymbol: TMEM170B
name: Transmembrane protein 170B
length: 132
go: ENSG00000205269;
sequence:
MKAEGGDHSMINLSVQQVLSLWAHGTVLRNLTEMWYWIFLWALFSSLFVHGAAGVLMFVMLQRHRQGRVISVIAVSIGFLASVTGAMITSAAVAGIYRVAGKNMAPLEALVWGVGQTVLTLIISFSRILATL

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:29367600}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: B2RXF0
geneSymbol: TMEM229A
name: Transmembrane protein 229A
length: 380
go: ENSG00000234224;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q99576
geneSymbol: TSC22D3
reactome: R-HSA-2672351;
length: 134
go: ENSG00000157514;
name:
TSC22 domain family protein 3 (DSIP-immunoreactive peptide) (Protein DIP) (hDIP) (Delta sleep-inducing peptide immunoreactor) (Glucocorticoid-induced leucine zipper protein) (GILZ) (TSC-22-like protein) (TSC-22-related protein) (TSC-22R)

sequence:
MNTEMYQTPMEVAVYQLHNFSISFFSSLLGGDVVSVKLDNSASGASVVAIDNKIEQAMDLVKNHLMYAVREEVEILKEQIRELVEKNSQLERENTLLKTLASPEQLEKFQSCLSPEEPAPESPQVPEAPGGSAV

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; ion transmembrane transport [GO:0034220]; negative regulation of activation-induced cell death of T cells [GO:0070236]; regulation of transcription, DNA-templated [GO:0006355]; response to osmotic stress [GO:0006970]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99576-1; Sequence=Displayed; Name=2; IsoId=Q99576-3; Sequence=VSP_012689; Name=3; IsoId=Q99576-4; Sequence=VSP_020732; Note=Incomplete sequence. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Localization depends on differentiation status of myoblasts. In undifferentiated myoblasts, isoform 1 localizes to the cytoplasm, but in differentiating myoblasts, isoform 1 is localized to the nucleus (By similarity). {ECO:0000250}.


uniprotID: Q7Z7N9
geneSymbol: TMEM179B
reactome: R-HSA-6798695;
name: Transmembrane protein 179B
length: 219
go: ENSG00000185475;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; neutrophil degranulation [GO:0043312]


uniprotID: Q8IXX5
geneSymbol: TMEM183A
name: Transmembrane protein 183A
length: 376
go: ENSG00000163444;
opentargets: integral component of membrane [GO:0016021]
snps: rs11558253 rs6678040
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IXX5-1; Sequence=Displayed; Name=2; IsoId=Q8IXX5-2; Sequence=VSP_015084; Note=No experimental confirmation available.; 


uniprotID: Q1AE95
geneSymbol: TMEM183B
name: Transmembrane protein 183B
length: 376
opentargets: integral component of membrane [GO:0016021]
snps: rs7630407
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q5JRV8
geneSymbol: TMEM255A
name: Transmembrane protein 255A (Protein FAM70A)
length: 349
go: ENSG00000125355;
opentargets: integral component of membrane [GO:0016021]; response to bacterium [GO:0009617]
snps: rs17854410
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5JRV8-1; Sequence=Displayed; Name=2; IsoId=Q5JRV8-2; Sequence=VSP_021920, VSP_021921; Note=No experimental confirmation available.; Name=3; IsoId=Q5JRV8-3; Sequence=VSP_046825; Name=4; IsoId=Q5JRV8-4; Sequence=VSP_046826; Note=Gene prediction based on EST data.; 


uniprotID: P29083
geneSymbol: GTF2E1
pdb: 1VD4;2JTX;2RNQ;2RNR;5GPY;5IY6;5IY7;5IY8;5IY9;5IYA;5IYB;5IYC;5IYD;
length: 439
go: ENSG00000153767;
snps: rs3732401
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:1956398, ECO:0000269|PubMed:7651391}.
reactome:
R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-674695;R-HSA-6807505;R-HSA-73776;R-HSA-73779;R-HSA-75953;R-HSA-76042;

name:
General transcription factor IIE subunit 1 (General transcription factor IIE 56 kDa subunit) (Transcription initiation factor IIE subunit alpha) (TFIIE-alpha)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor TFIID complex [GO:0005669]; transcription factor TFIIE complex [GO:0005673]; transcriptional preinitiation complex [GO:0097550]; metal ion binding [GO:0046872]; RNA polymerase II complex binding [GO:0000993]; sequence-specific DNA binding [GO:0043565]; TFIIH-class transcription factor complex binding [GO:0001097]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcriptional open complex formation at RNA polymerase II promoter [GO:0001113]; viral process [GO:0016032]


uniprotID: Q96DZ7
geneSymbol: TM4SF19
length: 209
go: ENSG00000145107;
opentargets: integral component of membrane [GO:0016021]
snps: rs6785339 rs35643777
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Transmembrane 4 L6 family member 19 (Osteoclast maturation-associated gene 4 protein) (Tetraspan membrane protein OCTM4)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DZ7-1; Sequence=Displayed; Name=2; IsoId=Q96DZ7-2; Sequence=VSP_045895; Note=No experimental confirmation available.; 


uniprotID: P29084
geneSymbol: GTF2E2
pdb: 1D8J;1D8K;5GPY;5IY6;5IY7;5IY8;5IY9;5IYA;5IYB;5IYC;5IYD;
length: 291
go: ENSG00000197265;
snps: rs2229299 rs875989846 rs2978277 rs875989847
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:7651391}.
reactome:
R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-674695;R-HSA-6807505;R-HSA-73776;R-HSA-73779;R-HSA-75953;R-HSA-76042;

name:
Transcription initiation factor IIE subunit beta (TFIIE-beta) (General transcription factor IIE subunit 2)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor TFIID complex [GO:0005669]; transcription factor TFIIE complex [GO:0005673]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q92609
geneSymbol: TBC1D5
pdb: 5GTU;
name: TBC1 domain family member 5
length: 795
go: ENSG00000131374;
snps: rs1138454
sequence:

opentargets:
autophagosome [GO:0005776]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; retromer complex [GO:0030904]; AP-2 adaptor complex binding [GO:0035612]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; retromer complex binding [GO:1905394]; activation of GTPase activity [GO:0090630]; autophagy [GO:0006914]; intracellular protein transport [GO:0006886]; macroautophagy [GO:0016236]; positive regulation of receptor internalization [GO:0002092]; response to starvation [GO:0042594]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92609-1; Sequence=Displayed; Name=2; IsoId=Q92609-2; Sequence=VSP_045039; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:20923837}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:22354992}. Note=During starvation induced autophagy is relocalized from endosomal localization to LC3-positive autophagosomes. {ECO:0000269|PubMed:22354992}.


uniprotID: Q8TAQ9
geneSymbol: SUN3
name: SUN domain-containing protein 3 (Sad1/unc-84 domain-containing protein 1)
length: 357
go: ENSG00000164744;
snps: rs17852360 rs7797657
sequence:

opentargets:
integral component of membrane [GO:0016021]; meiotic nuclear membrane microtubule tethering complex [GO:0034993]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]; protein membrane anchor [GO:0043495]; cytoskeletal anchoring at nuclear membrane [GO:0090286]; nuclear envelope organization [GO:0006998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TAQ9-1; Sequence=Displayed; Name=2; IsoId=Q8TAQ9-2; Sequence=VSP_029748, VSP_029749; Name=3; IsoId=Q8TAQ9-3; Sequence=VSP_055624; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Nucleus envelope {ECO:0000250|UniProtKB:Q5SS91}. Nucleus inner membrane {ECO:0000305}.


uniprotID: Q96RS0
geneSymbol: TGS1
pdb: 3EGI;3GDH;
length: 853
go: ENSG00000137574;
snps: rs1818 rs3213971 rs11986329 rs10100659 rs16922259 rs10109493 rs7823773
reactome:
R-HSA-1368082;R-HSA-1368108;R-HSA-191859;R-HSA-1989781;R-HSA-2151201;R-HSA-2426168;R-HSA-381340;R-HSA-400206;R-HSA-400253;

name:
Trimethylguanosine synthase (EC 2.1.1.-) (CLL-associated antigen KW-2) (Cap-specific guanine-N2 methyltransferase) (Hepatocellular carcinoma-associated antigen 137) (Nuclear receptor coactivator 6-interacting protein) (PRIP-interacting protein with methyltransferase motif) (PIMT) (PIPMT)

sequence:

opentargets:
Cajal body [GO:0015030]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small nuclear ribonucleoprotein complex [GO:0030532]; RNA methyltransferase activity [GO:0008173]; RNA trimethylguanosine synthase activity [GO:0071164]; 7-methylguanosine cap hypermethylation [GO:0036261]; 7-methylguanosine RNA capping [GO:0009452]; regulation of lipid metabolic process [GO:0019216]; ribonucleoprotein complex biogenesis [GO:0022613]; spliceosomal snRNP assembly [GO:0000387]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12943661}. Nucleus, Cajal body {ECO:0000305|PubMed:12032086}. Nucleus, nucleolus {ECO:0000269|PubMed:12032086}. Note=A 90 kDa isoform is found in the nucleus while a 55 kDa isoform is found in the cytoplasm and colocalizes with the tubulin network. {ECO:0000269|PubMed:12943661}.


uniprotID: Q5T1C6
geneSymbol: THEM4
reactome: R-HSA-1257604;R-HSA-165158;R-HSA-199418;R-HSA-389357;R-HSA-5218920;R-HSA-77289;
pdb: 4AE8;4GAH;
length: 240
go: ENSG00000159445;
snps: rs3748805 rs144257719
name:
Acyl-coenzyme A thioesterase THEM4 (Acyl-CoA thioesterase THEM4) (EC 3.1.2.2) (Carboxyl-terminal modulator protein) (Thioesterase superfamily member 4)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; acyl-CoA hydrolase activity [GO:0047617]; myristoyl-CoA hydrolase activity [GO:0102991]; palmitoyl-CoA hydrolase activity [GO:0016290]; acyl-CoA metabolic process [GO:0006637]; fatty acid metabolic process [GO:0006631]; negative regulation of protein kinase B signaling [GO:0051898]; protein kinase B signaling [GO:0043491]; regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902108]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11598301}. Cell projection, ruffle membrane {ECO:0000269|PubMed:11598301}. Cytoplasm {ECO:0000269|PubMed:19604401}. Mitochondrion {ECO:0000269|PubMed:19168129, ECO:0000269|PubMed:19421406, ECO:0000269|PubMed:19604401}. Mitochondrion inner membrane; Peripheral membrane protein {ECO:0000269|PubMed:19168129}. Mitochondrion intermembrane space {ECO:0000269|PubMed:19168129, ECO:0000269|PubMed:19604401}. Note=Released from the mitochondria into the cytosol in response to apoptotic stimuli. {ECO:0000269|PubMed:19168129}.


uniprotID: P54577
geneSymbol: YARS
reactome: R-HSA-379716;
pdb: 1N3L;1NTG;1Q11;4Q93;4QBT;5THH;5THL;
length: 528
go: ENSG00000134684;
drug: DB01766;DB00135;DB07205;DB08371;DB03978;
snps: rs121908833 rs2128600 rs121908834 rs758897498
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16429158}.
name:
Tyrosine--tRNA ligase, cytoplasmic (EC 6.1.1.1) (Tyrosyl-tRNA synthetase) (TyrRS) [Cleaved into: Tyrosine--tRNA ligase, cytoplasmic, N-terminally processed]

sequence:

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; methionyl glutamyl tRNA synthetase complex [GO:0017102]; nuclear body [GO:0016604]; ATP binding [GO:0005524]; interleukin-8 receptor binding [GO:0005153]; RNA binding [GO:0003723]; tRNA binding [GO:0000049]; tyrosine-tRNA ligase activity [GO:0004831]; apoptotic process [GO:0006915]; tRNA aminoacylation for protein translation [GO:0006418]; tyrosyl-tRNA aminoacylation [GO:0006437]


uniprotID: Q8NBD8
geneSymbol: TMEM229B
name: Transmembrane protein 229B
length: 167
go: ENSG00000198133;
opentargets: integral component of membrane [GO:0016021]; response to bacterium [GO:0009617]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MASAEPLTALSRWYLYAIHGYFCEVMFTAAWEFVVNLNWKFPGVTSVWALFIYGTSILIVERMYLRLRGRCPLLLRCLIYTLWTYLWEFTTGFILRQFNACPWDYSQFDFDFMGLITLEYAVPWFCGALIMEQFIIRNTLRLRFDKDAEPGEPSGALALANGHVKTD


uniprotID: Q96EM0
geneSymbol: L3HYPDH
name: Trans-3-hydroxy-L-proline dehydratase (EC 4.2.1.77) (Trans-L-3-hydroxyproline dehydratase)
length: 354
go: ENSG00000126790;
opentargets: hydro-lyase activity [GO:0016836]; trans-L-3-hydroxyproline dehydratase activity [GO:0050346]
drug: DB00172;
snps: rs17096291 rs35622288 rs1046701 rs8660
sequence:


uniprotID: Q9ULZ0
geneSymbol: TP53TG3; TP53TG3B; TP53TG3C; TP53TG3D; TP53TG3E; TP53TG3F
name: TP53-target gene 3 protein (TP53-inducible gene 3 protein)
length: 132
go: ENSG00000183632;ENSG00000205456;ENSG00000205457;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
sequence:
MRASPCISQPAASWHPRPSALRPTAGSGPDTRTPGTVEDGSAPCPAFRSPAVSPCGEEPCCFQISPAEETLELGRLVSPGNCDTLSPRAAGFYACHVRSLIPCRSTKGRWPLTASAAGLSRHAQCGPSLGLG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=TP53TG3b; IsoId=Q9ULZ0-1; 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. {ECO:0000305}; Name=2; Synonyms=TP53TG3a; IsoId=Q9ULZ0-2; Sequence=VSP_032871; Name=3; IsoId=Q9ULZ0-3; Sequence=VSP_032870; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10534768}. Nucleus {ECO:0000269|PubMed:10534768}.


uniprotID: P59542
geneSymbol: TAS2R19
reactome: R-HSA-418594;R-HSA-420499;
length: 299
go: ENSG00000212124;
snps: rs12424373 rs10772420
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Taste receptor type 2 member 19 (Taste receptor type 2 member 23) (Taste receptor type 2 member 48) (T2R48)

sequence:


uniprotID: Q8N9U0
geneSymbol: TC2N
length: 490
go: ENSG00000165929;
opentargets: nucleus [GO:0005634]
snps: rs2402073 rs8020529
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Tandem C2 domains nuclear protein (Membrane targeting tandem C2 domain-containing protein 1) (Tandem C2 protein in nucleus) (Tac2-N)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9U0-1; Sequence=Displayed; Name=2; IsoId=Q8N9U0-2; Sequence=VSP_008572; Note=No experimental confirmation available.; 


uniprotID: A6NHL2
geneSymbol: TUBAL3
name: Tubulin alpha chain-like 3
length: 446
go: ENSG00000178462;
snps: rs11818372 rs34080891
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
reactome:
R-HSA-1445148;R-HSA-190840;R-HSA-190861;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-3371497;R-HSA-380320;R-HSA-389960;R-HSA-389977;R-HSA-437239;R-HSA-5617833;R-HSA-5626467;R-HSA-5663220;R-HSA-6807878;R-HSA-6811434;R-HSA-6811436;R-HSA-68877;R-HSA-8852276;R-HSA-8955332;R-HSA-983189;

sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; structural constituent of cytoskeleton [GO:0005200]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NHL2-1; Sequence=Displayed; Name=2; IsoId=A6NHL2-2; Sequence=VSP_030108; 


uniprotID: Q8IZP1
geneSymbol: TBC1D3
reactome: R-HSA-8854214;
length: 549
go: ENSG00000274611;
name:
TBC1 domain family member 3 (Prostate cancer gene 17 protein) (Protein TRE17-alpha) (Rab GTPase-activating protein PRC17)

sequence:

opentargets:
early endosome membrane [GO:0031901]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZP1-1; Sequence=Displayed; Name=2; IsoId=Q8IZP1-2; Sequence=VSP_056829, VSP_056830; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23578663}; Lipid-anchor {ECO:0000269|PubMed:23578663}. Note=Associated with lipid rafts.


uniprotID: P63165
geneSymbol: SUMO1
length: 101
go: ENSG00000116030;
reactome:
R-HSA-3065676;R-HSA-3065678;R-HSA-3065679;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-5693571;R-HSA-5693607;R-HSA-5696395;R-HSA-69473;R-HSA-877312;R-HSA-8866904;

pdb:
1A5R;1TGZ;1WYW;1Y8R;1Z5S;2ASQ;2BF8;2G4D;2IO2;2IY0;2IY1;2KQS;2LAS;2MW5;2N1A;2N1V;2PE6;2UYZ;2VRR;3KYC;3KYD;3RZW;3UIP;4WJN;4WJO;4WJP;4WJQ;5AEK;5B7A;5ELJ;5GHD;6EOP;6EOT;

name:
Small ubiquitin-related modifier 1 (SUMO-1) (GAP-modifying protein 1) (GMP1) (SMT3 homolog 3) (Sentrin) (Ubiquitin-homology domain protein PIC1) (Ubiquitin-like protein SMT3C) (Smt3C) (Ubiquitin-like protein UBL1)

sequence:
MSDQEAKPSTEDLGDKKEGEYIKLKVIGQDSSEIHFKVKMTTHLKKLKESYCQRQGVPMNSLRFLFEGQRIADNHTPKELGMEEEDVIEVYQEQTGGHSTV

opentargets:
cytosol [GO:0005829]; dendrite [GO:0030425]; fibrillar center [GO:0001650]; heterochromatin [GO:0000792]; nuclear body [GO:0016604]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nuclear speck [GO:0016607]; nuclear stress granule [GO:0097165]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; PML body [GO:0016605]; SUMO activating enzyme complex [GO:0031510]; synapse [GO:0045202]; XY body [GO:0001741]; enzyme binding [GO:0019899]; glucocorticoid receptor binding [GO:0035259]; potassium channel regulator activity [GO:0015459]; protein binding, bridging [GO:0030674]; protein C-terminus binding [GO:0008022]; protein tag [GO:0031386]; RNA binding [GO:0003723]; small protein activating enzyme binding [GO:0044388]; SUMO transferase activity [GO:0019789]; transcription corepressor binding [GO:0001222]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; cellular response to cadmium ion [GO:0071276]; cellular response to heat [GO:0034605]; DNA repair [GO:0006281]; double-strand break repair via nonhomologous end joining [GO:0006303]; negative regulation of action potential [GO:0045759]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; negative regulation of DNA binding [GO:0043392]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; PML body organization [GO:0030578]; positive regulation of calcium-transporting ATPase activity [GO:1901896]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein complex assembly [GO:0031334]; protein localization to nuclear pore [GO:0090204]; protein stabilization [GO:0050821]; protein sumoylation [GO:0016925]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of interferon-gamma-mediated signaling pathway [GO:0060334]; regulation of protein localization [GO:0032880]; roof of mouth development [GO:0060021]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P63165-1; Sequence=Displayed; Name=2; IsoId=P63165-2; Sequence=VSP_046756; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus membrane. Nucleus speckle. Cytoplasm. Nucleus, PML body. Cell membrane {ECO:0000269|PubMed:19223394}. Nucleus {ECO:0000269|PubMed:24651376}. Note=Recruited by BCL11A into the nuclear body. In the presence of ZFHX3, sequesterd to nuclear body (NB)-like dots in the nucleus some of which overlap or closely associate with PML body. {ECO:0000250|UniProtKB:P63166, ECO:0000269|PubMed:24651376}.


uniprotID: Q6UWL2
geneSymbol: SUSD1
name: Sushi domain-containing protein 1
length: 747
go: ENSG00000106868;
opentargets: integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]
snps: rs17829458 rs17855713
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UWL2-1; Sequence=Displayed; Name=2; IsoId=Q6UWL2-2; Sequence=VSP_020832; Note=No experimental confirmation available.; Name=3; IsoId=Q6UWL2-3; Sequence=VSP_026677; 


uniprotID: Q8NHG7
geneSymbol: SVIP
reactome: R-HSA-6798695;
name: Small VCP/p97-interacting protein
sequence: MGLCFPCPGESAPPTPDLEEKRAKLAEAAERRQKEAASRGILDVQSVQEKRKKKEKIEKQIATSGPPPEGGLRWTVS
length: 77
go: ENSG00000198168;
opentargets:
anchored component of membrane [GO:0031225]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; smooth endoplasmic reticulum membrane [GO:0030868]; tertiary granule membrane [GO:0070821]; ATPase binding [GO:0051117]; protein self-association [GO:0043621]; negative regulation of ER-associated ubiquitin-dependent protein catabolic process [GO:1903070]; negative regulation of protein complex assembly [GO:0031333]; negative regulation of retrograde protein transport, ER to cytosol [GO:1904153]; negative regulation of VCP-NPL4-UFD1 AAA ATPase complex assembly [GO:1904240]; neutrophil degranulation [GO:0043312]; positive regulation of autophagy [GO:0010508]; positive regulation of protein lipidation [GO:1903061]

location:
SUBCELLULAR LOCATION: Smooth endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: Q9Y2Z4
geneSymbol: YARS2
reactome: R-HSA-379726;
pdb: 2PID;3ZXI;
name: Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) (Tyrosyl-tRNA synthetase) (TyrRS)
length: 477
go: ENSG00000139131;
drug: DB00135;
snps: rs587777213 rs267607180 rs11539445
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:15779907}.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nuclear body [GO:0016604]; ATP binding [GO:0005524]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; tRNA binding [GO:0000049]; tyrosine binding [GO:0072545]; tyrosine-tRNA ligase activity [GO:0004831]; mitochondrial tyrosyl-tRNA aminoacylation [GO:0070184]; translation [GO:0006412]; tRNA aminoacylation [GO:0043039]; tRNA aminoacylation for protein translation [GO:0006418]


uniprotID: Q15714
geneSymbol: TSC22D1
length: 1073
go: ENSG00000102804;
snps: rs9525983
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
TSC22 domain family protein 1 (Cerebral protein 2) (Regulatory protein TSC-22) (TGFB-stimulated clone 22 homolog) (Transforming growth factor beta-1-induced transcript 4 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q15714-1; Sequence=Displayed; Name=2; IsoId=Q15714-2; Sequence=VSP_035325, VSP_035326; Name=3; IsoId=Q15714-3; Sequence=VSP_035324; Name=4; IsoId=Q15714-4; Sequence=VSP_044939, VSP_044940; Note=No experimental confirmation available.; 


uniprotID: Q9Y3Q8
geneSymbol: TSC22D4
length: 395
go: ENSG00000166925;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
TSC22 domain family protein 4 (TSC22-related-inducible leucine zipper protein 2) (Tsc-22-like protein THG-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; negative regulation of transcription, DNA-templated [GO:0045892]; response to osmotic stress [GO:0006970]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y3Q8-1; Sequence=Displayed; Name=2; IsoId=Q9Y3Q8-2; Sequence=VSP_056245; Note=No experimental confirmation available.; 


uniprotID: P40200
geneSymbol: CD96
reactome: R-HSA-198933;
length: 585
go: ENSG00000153283;
snps: rs2276872 rs119477056
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
T-cell surface protein tactile (Cell surface antigen CD96) (T cell-activated increased late expression protein) (CD antigen CD96)

sequence:

opentargets:
adherens junction [GO:0005912]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; cell-matrix adhesion [GO:0007160]; cytokine production involved in inflammatory response [GO:0002534]; immune response [GO:0006955]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of natural killer cell cytokine production [GO:0002728]; regulation of immune response [GO:0050776]; response to lipopolysaccharide [GO:0032496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P40200-1; Sequence=Displayed; Name=2; IsoId=P40200-2; Sequence=VSP_029908; 


uniprotID: P48775
geneSymbol: TDO2
reactome: R-HSA-71240;
pdb: 4PW8;5TI9;5TIA;6A4I;
length: 406
go: ENSG00000151790;
drug: DB00150;DB00779;DB00500;
name:
Tryptophan 2,3-dioxygenase (TDO) (EC 1.13.11.11) (Tryptamin 2,3-dioxygenase) (Tryptophan oxygenase) (TO) (TRPO) (Tryptophan pyrrolase) (Tryptophanase)

sequence:

opentargets:
cytosol [GO:0005829]; amino acid binding [GO:0016597]; heme binding [GO:0020037]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; oxygen binding [GO:0019825]; tryptophan 2,3-dioxygenase activity [GO:0004833]; protein homotetramerization [GO:0051289]; response to nitroglycerin [GO:1904842]; tryptophan catabolic process [GO:0006569]; tryptophan catabolic process to acetyl-CoA [GO:0019442]; tryptophan catabolic process to kynurenine [GO:0019441]


uniprotID: Q96RI9
geneSymbol: TAAR9
reactome: R-HSA-375280;R-HSA-418555;
name: Trace amine-associated receptor 9 (TaR-9) (Trace amine receptor 9) (Trace amine receptor 3) (TaR-3)
length: 348
go: ENSG00000237110;
snps: rs9389004
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; trace-amine receptor activity [GO:0001594]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q9NYV9
geneSymbol: TAS2R13
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 13 (T2R13) (Taste receptor family B member 3) (TRB3)
length: 303
go: ENSG00000212128;
snps: rs1015443
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bitter taste receptor activity [GO:0033038]; G protein-coupled receptor activity [GO:0004930]; taste receptor activity [GO:0008527]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cytokinesis [GO:0032467]


uniprotID: O14894
geneSymbol: TM4SF5
name: Transmembrane 4 L6 family member 5 (Tetraspan transmembrane protein L6H)
length: 197
go: ENSG00000142484;
opentargets: integral component of plasma membrane [GO:0005887]
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:
MCTGKCARCVGLSLITLCLVCIVANALLLVPNGETSWTNTNHLSLQVWLMGGFIGGGLMVLCPGIAAVRAGGKGCCGAGCCGNRCRMLRSVFSSAFGVLGAIYCLSVSGAGLRNGPRCLMNGEWGYHFEDTAGAYLLNRTLWDRCEAPPRVVPWNVTLFSLLVAASCLEIVLCGIQLVNATIGVFCGDCRKKQDTPH


uniprotID: Q92844
geneSymbol: TANK
reactome: R-HSA-9013973;R-HSA-933541;R-HSA-936964;
pdb: 1KZZ;1L0A;5H10;
name: TRAF family member-associated NF-kappa-B activator (TRAF-interacting protein) (I-TRAF)
length: 425
go: ENSG00000136560;
snps: rs10183668 rs2229759 rs3769969
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; protein-containing complex [GO:0032991]; deubiquitinase activator activity [GO:0035800]; metal ion binding [GO:0046872]; ubiquitin protein ligase binding [GO:0031625]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to interleukin-1 [GO:0071347]; cellular response to ionizing radiation [GO:0071479]; cellular response to tumor necrosis factor [GO:0071356]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; positive regulation of protein deubiquitination [GO:1903003]; positive regulation of ubiquitin-specific protease activity [GO:2000158]; proteolysis [GO:0006508]; signal transduction [GO:0007165]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=Q92844-1; Sequence=Displayed; Name=Short; IsoId=Q92844-2; Sequence=VSP_004442, VSP_004443; Note=No experimental confirmation available.; Name=3; IsoId=Q92844-3; Sequence=VSP_043702, VSP_043703; Note=No experimental confirmation available.; 


uniprotID: Q96SB4
geneSymbol: SRPK1
pdb: 1WAK;1WBP;3BEG;4WUA;5MXX;5MY8;5NNG;5XV7;
length: 655
go: ENSG00000096063;
snps: rs35519113
name:
SRSF protein kinase 1 (EC 2.7.11.1) (SFRS protein kinase 1) (Serine/arginine-rich protein-specific kinase 1) (SR-protein-specific kinase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; nuclear matrix [GO:0016363]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; RNA binding [GO:0003723]; chromosome segregation [GO:0007059]; innate immune response [GO:0045087]; intracellular signal transduction [GO:0035556]; negative regulation of viral genome replication [GO:0045071]; positive regulation of viral genome replication [GO:0045070]; protein phosphorylation [GO:0006468]; regulation of gene expression [GO:0010468]; regulation of mRNA processing [GO:0050684]; regulation of mRNA splicing, via spliceosome [GO:0048024]; RNA splicing [GO:0008380]; sperm chromatin condensation [GO:0035092]; spliceosomal complex assembly [GO:0000245]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2 {ECO:0000269|PubMed:11509566, ECO:0000269|PubMed:8208298}; IsoId=Q96SB4-2; Sequence=Displayed; Name=1; Synonyms=1a; IsoId=Q96SB4-3; Sequence=VSP_042130; Note=Due to intron retention.; Name=3; IsoId=Q96SB4-4; Sequence=VSP_057356; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus. Nucleus matrix. Microsome. Note=Shuttles between the nucleus and the cytoplasm. Inhibition of the Hsp90 ATPase activity, osmotic stress and interaction with HHV-1 ICP27 protein can induce its translocation to the nucleus. KAT5/TIP60 inhibits its nuclear translocation.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Nucleus matrix. Microsome. Note=Mainly localized in the microsomal fraction and the cytoplasm, and to a lesser extent in the nuclear matrix.


uniprotID: O60499
geneSymbol: STX10
reactome: R-HSA-6811440;
pdb: 4DND;
name: Syntaxin-10 (Syn10)
length: 249
go: ENSG00000104915;
sequence:

opentargets:
cytosol [GO:0005829]; endomembrane system [GO:0012505]; integral component of membrane [GO:0016021]; integral component of synaptic vesicle membrane [GO:0030285]; perinuclear region of cytoplasm [GO:0048471]; SNARE complex [GO:0031201]; synaptic vesicle [GO:0008021]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; vesicle [GO:0031982]; SNAP receptor activity [GO:0005484]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; Golgi vesicle transport [GO:0048193]; intracellular protein transport [GO:0006886]; regulation of protein localization [GO:0032880]; retrograde transport, endosome to Golgi [GO:0042147]; vesicle docking [GO:0048278]; vesicle fusion [GO:0006906]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60499-1; Sequence=Displayed; Name=2; IsoId=O60499-2; Sequence=VSP_006347; Note=No experimental confirmation available.; 

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


uniprotID: Q8TCJ2
geneSymbol: STT3B
length: 826
go: ENSG00000163527;
name:
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B (Oligosaccharyl transferase subunit STT3B) (STT3-B) (EC 2.4.99.18) (Source of immunodominant MHC-associated peptides homolog)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; oligosaccharyltransferase complex [GO:0008250]; oligosaccharyltransferase I complex [GO:0034998]; protein-containing complex [GO:0032991]; dolichyl-diphosphooligosaccharide-protein glycotransferase activity [GO:0004579]; metal ion binding [GO:0046872]; co-translational protein modification [GO:0043686]; glycoprotein catabolic process [GO:0006516]; post-translational protein modification [GO:0043687]; protein N-linked glycosylation via asparagine [GO:0018279]; response to unfolded protein [GO:0006986]; ubiquitin-dependent ERAD pathway [GO:0030433]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:12887896}. Endoplasmic reticulum membrane; Multi-pass membrane protein {ECO:0000250|UniProtKB:P39007}.


uniprotID: Q6ZVD7
geneSymbol: STOX1
name: Storkhead-box protein 1 (Winged-helix domain-containing protein)
length: 989
go: ENSG00000165730;
snps: rs556362193 rs1341667 rs10509305 rs41278532 rs7904300
sequence:

opentargets:
cell cortex [GO:0005938]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular response to nitrosative stress [GO:0071500]; inner ear development [GO:0048839]; negative regulation of gene expression [GO:0010629]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cyclin-dependent protein kinase activity [GO:1904031]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of gene expression [GO:0010628]; positive regulation of otic vesicle morphogenesis [GO:1904120]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of gene expression [GO:0010468]; regulation of mitochondrial DNA metabolic process [GO:1901858]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of mitochondrion organization [GO:0010821]; regulation of response to oxidative stress [GO:1902882]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=Q6ZVD7-1; Sequence=Displayed; Name=B; IsoId=Q6ZVD7-2; Sequence=VSP_016228, VSP_016229; Name=C; IsoId=Q6ZVD7-3; Sequence=VSP_016226, VSP_016227; 

location:
SUBCELLULAR LOCATION: Isoform A: Cytoplasm {ECO:0000269|PubMed:22253775}. Nucleus {ECO:0000269|PubMed:22253775}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:22253775}. Note=In epithelial cells, diffusely expressed in the cytoplasm, particularly in peri-membrane cortical regions (By similarity). Concentrated at centrosomes during metaphase (PubMed:22253775). {ECO:0000250|UniProtKB:B2RQL2, ECO:0000269|PubMed:22253775}.; SUBCELLULAR LOCATION: Isoform B: Nucleus.; SUBCELLULAR LOCATION: Isoform C: Nucleus, nucleolus.


uniprotID: P02808
geneSymbol: STATH
name: Statherin
sequence: MKFLVFAFILALMVSMIGADSSEEKFLRRIGRFGYGYGPYQPVPEQPLYPQPYQPQYQQYTF
length: 62
go: ENSG00000126549;
location: SUBCELLULAR LOCATION: Secreted.
opentargets:
extracellular region [GO:0005576]; extracellular matrix constituent, lubricant activity [GO:0030197]; hydroxyapatite binding [GO:0046848]; structural constituent of tooth enamel [GO:0030345]; biomineral tissue development [GO:0031214]; defense response to bacterium [GO:0042742]; negative regulation of bone mineralization [GO:0030502]; ossification [GO:0001503]; saliva secretion [GO:0046541]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Both isoforms can occur with the Phe-62 deletion.; Name=1; IsoId=P02808-1; Sequence=Displayed; Name=2; IsoId=P02808-2; Sequence=VSP_045744; 


uniprotID: Q86WV6
geneSymbol: TMEM173
reactome: R-HSA-1834941;R-HSA-3134975;R-HSA-3249367;R-HSA-3270619;R-HSA-6798695;
pdb: 4EF4;4EF5;4EMT;4EMU;4F5D;4F5E;4F5W;4F5Y;4F9E;4F9G;4KSY;4LOH;4LOI;4QXO;4QXP;4QXQ;4QXR;5BQX;5JEJ;
length: 379
go: ENSG00000184584;
snps: rs11554776 rs587777611 rs587777609 rs587777610 rs1131769 rs7380824
name:
Stimulator of interferon genes protein (hSTING) (Endoplasmic reticulum interferon stimulator) (ERIS) (Mediator of IRF3 activation) (hMITA) (Transmembrane protein 173)

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; perinuclear region of cytoplasm [GO:0048471]; peroxisome [GO:0005777]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; cyclic-di-GMP binding [GO:0035438]; cyclic-GMP-AMP binding [GO:0061507]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; activation of innate immune response [GO:0002218]; apoptotic process [GO:0006915]; cellular response to exogenous dsRNA [GO:0071360]; cellular response to interferon-beta [GO:0035458]; cellular response to organic cyclic compound [GO:0071407]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; interferon-beta production [GO:0032608]; neutrophil degranulation [GO:0043312]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of protein binding [GO:0032092]; positive regulation of protein import into nucleus, translocation [GO:0033160]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type I interferon production [GO:0032481]; regulation of type I interferon production [GO:0032479]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18724357, ECO:0000269|PubMed:19285439, ECO:0000269|PubMed:19433799, ECO:0000269|PubMed:19776740, ECO:0000269|PubMed:25254379}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion outer membrane {ECO:0000269|PubMed:18724357, ECO:0000269|PubMed:19285439, ECO:0000269|PubMed:19433799, ECO:0000269|PubMed:19776740}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000250|UniProtKB:Q3TBT3}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:19433799}. Cytoplasm {ECO:0000269|PubMed:23027953}. Note=In response to double-stranded DNA stimulation, relocalizes to perinuclear region, where the kinase TBK1 is recruited.


uniprotID: Q15833
geneSymbol: STXBP2
reactome: R-HSA-114608;R-HSA-449836;
pdb: 4CCA;
length: 593
go: ENSG00000076944;
snps: rs121918541 rs746897867 rs773360200 rs769717341 rs121918540 rs6791
name:
Syntaxin-binding protein 2 (Protein unc-18 homolog 2) (Unc18-2) (Protein unc-18 homolog B) (Unc-18B)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; azurophil granule [GO:0042582]; cytolytic granule [GO:0044194]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; specific granule [GO:0042581]; tertiary granule [GO:0070820]; zymogen granule membrane [GO:0042589]; syntaxin-1 binding [GO:0017075]; syntaxin-3 binding [GO:0030348]; cellular response to interferon-gamma [GO:0071346]; leukocyte mediated cytotoxicity [GO:0001909]; neutrophil degranulation [GO:0043312]; platelet degranulation [GO:0002576]; protein transport [GO:0015031]; regulation of mast cell degranulation [GO:0043304]; vesicle docking involved in exocytosis [GO:0006904]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15833-1; Sequence=Displayed; Name=2; IsoId=Q15833-2; Sequence=VSP_040121; Name=3; IsoId=Q15833-3; Sequence=VSP_055157; Note=No experimental confirmation available.; 


uniprotID: Q9UBS9
geneSymbol: SUCO
length: 1254
go: ENSG00000094975;
name:
SUN domain-containing ossification factor (Membrane protein CH1) (Protein osteopotentia homolog) (SUN-like protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; rough endoplasmic reticulum [GO:0005791]; rough endoplasmic reticulum membrane [GO:0030867]; multicellular organism development [GO:0007275]; ossification [GO:0001503]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of osteoblast differentiation [GO:0045669]; protein folding in endoplasmic reticulum [GO:0034975]; regulation of bone remodeling [GO:0046850]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBS9-1; Sequence=Displayed; Name=2; IsoId=Q9UBS9-2; Sequence=VSP_027921, VSP_027922, VSP_027923; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Rough endoplasmic reticulum membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: Q9UGT4
geneSymbol: SUSD2
name: Sushi domain-containing protein 2
length: 822
go: ENSG00000099994;
snps: rs56289213 rs9680526 rs8141797
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; polysaccharide binding [GO:0030247]; scavenger receptor activity [GO:0005044]; immune response [GO:0006955]; negative regulation of cell cycle G1/S phase transition [GO:1902807]; negative regulation of cell division [GO:0051782]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23131994, ECO:0000269|PubMed:25351403}; Single-pass type I membrane protein {ECO:0000305}. Note=SUSD2 and LGALS1 co-localized in very specific, punctate regions along the cell membrane of breast cancer cells. {ECO:0000269|PubMed:23131994}.


uniprotID: Q96L08
geneSymbol: SUSD3
name: Sushi domain-containing protein 3
length: 255
go: ENSG00000157303;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
snps: rs1131773
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96L08-1; Sequence=Displayed; Name=2; IsoId=Q96L08-2; Sequence=VSP_020834; Note=No experimental confirmation available.; Name=3; IsoId=Q96L08-3; Sequence=VSP_020833; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24413080}; Single-pass membrane protein {ECO:0000305}. Note=Prominently localized to cell-cell borders. {ECO:0000269|PubMed:24413080}.


uniprotID: Q15022
geneSymbol: SUZ12
reactome: R-HSA-212300;R-HSA-2559580;R-HSA-3214841;R-HSA-4551638;R-HSA-5617472;R-HSA-8943724;R-HSA-8953750;
pdb: 4W2R;5HYN;5IJ7;5IJ8;5LS6;5WAI;5WAK;5WG6;6B3W;6C23;6C24;
length: 739
go: ENSG00000178691;
snps: rs17339444 rs1131692177
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15231737}.
name:
Polycomb protein SUZ12 (Chromatin precipitated E2F target 9 protein) (ChET 9 protein) (Joined to JAZF1 protein) (Suppressor of zeste 12 protein homolog)

sequence:

opentargets:
ESC/E(Z) complex [GO:0035098]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; RSC-type complex [GO:0016586]; sex chromatin [GO:0001739]; chromatin DNA binding [GO:0031490]; histone methyltransferase activity [GO:0042054]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; promoter-specific chromatin binding [GO:1990841]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; histone H3-K27 methylation [GO:0070734]; histone ubiquitination [GO:0016574]; negative regulation of cell differentiation [GO:0045596]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell proliferation [GO:0008284]


uniprotID: Q9UH65
geneSymbol: SWAP70
pdb: 2DN6;
name: Switch-associated protein 70 (SWAP-70)
length: 585
go: ENSG00000133789;
snps: rs397686 rs415895
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; DNA binding [GO:0003677]; actin filament bundle assembly [GO:0051017]; isotype switching [GO:0045190]; negative regulation of actin filament depolymerization [GO:0030835]; negative regulation of cell-cell adhesion mediated by integrin [GO:0033633]; negative regulation of peptidyl-serine dephosphorylation [GO:1902309]; positive regulation of actin filament bundle assembly [GO:0032233]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of mast cell chemotaxis [GO:0060754]; regulation of protein localization [GO:0032880]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10681448}. Cell membrane. Nucleus {ECO:0000269|PubMed:10681448}. Cell projection, lamellipodium {ECO:0000269|PubMed:12925760}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12925760}. Note=In resting B-cells it is localized mainly in the cytoplasm and upon cell activation it is recruited to the plasma membrane and then translocates to the nucleus (PubMed:10681448). In activated, class-switching B-cells it is associated with membrane IgG but not IgM (PubMed:10681448). Localized to loose actin filament arrays located behind actively extending lamellipodia (PubMed:12925760). {ECO:0000269|PubMed:10681448, ECO:0000269|PubMed:12925760}.


uniprotID: P35269
geneSymbol: GTF2F1
pdb: 1F3U;1I27;1J2X;1NHA;1ONV;2K7L;5IY6;5IY7;5IY8;5IY9;5IYA;5IYB;5IYC;5IYD;
length: 517
go: ENSG00000125651;
snps: rs34826931
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167160;R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-167200;R-HSA-167238;R-HSA-167242;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-168325;R-HSA-674695;R-HSA-6796648;R-HSA-6803529;R-HSA-6807505;R-HSA-72086;R-HSA-72163;R-HSA-72165;R-HSA-72203;R-HSA-73776;R-HSA-73779;R-HSA-75953;R-HSA-75955;R-HSA-76042;R-HSA-77075;R-HSA-8851708;R-HSA-9018519;

name:
General transcription factor IIF subunit 1 (General transcription factor IIF 74 kDa subunit) (Transcription initiation factor IIF subunit alpha) (TFIIF-alpha) (Transcription initiation factor RAP74)

sequence:

opentargets:
cell junction [GO:0030054]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; transcription factor TFIID complex [GO:0005669]; transcription factor TFIIF complex [GO:0005674]; DNA binding [GO:0003677]; phosphatase activator activity [GO:0019211]; promoter-specific chromatin binding [GO:1990841]; protein domain specific binding [GO:0019904]; protein phosphatase binding [GO:0019903]; RNA binding [GO:0003723]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; 7-methylguanosine mRNA capping [GO:0006370]; fibroblast growth factor receptor signaling pathway [GO:0008543]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of protein binding [GO:0032091]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; response to virus [GO:0009615]; RNA metabolic process [GO:0016070]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q9NYW4
geneSymbol: TAS2R5
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 5 (T2R5)
length: 299
go: ENSG00000127366;
snps: rs2234013 rs2227264 rs2234014 rs34529840 rs2234015 rs2234016
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bitter taste receptor activity [GO:0033038]; G protein-coupled receptor activity [GO:0004930]; taste receptor activity [GO:0008527]; chemosensory behavior [GO:0007635]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: P59539
geneSymbol: TAS2R45
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 45 (T2R45) (G-protein coupled receptor 59)
length: 299
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q70YC4
geneSymbol: ZNF365
name: Talanin
length: 216
go: ENSG00000138311;
snps: rs7076156
sequence:

opentargets:
centrosome [GO:0005813]; protein homodimerization activity [GO:0042803]; gamma-tubulin complex localization [GO:0033566]; mitotic cytokinesis [GO:0000281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=4; Synonyms=Talanin, ZNF365D; IsoId=Q70YC4-1; Sequence=Displayed; Name=1; Synonyms=ZNF365A; IsoId=Q70YC5-1; Sequence=External; Name=2; Synonyms=ZNF365B; IsoId=Q70YC5-2; Sequence=External; Name=3; Synonyms=ZNF365C; IsoId=Q70YC5-3; Sequence=External; Name=5; IsoId=Q70YC5-4; Sequence=External; Note=No experimental confirmation available.; Name=6; IsoId=Q70YC5-5; Sequence=External; Note=No experimental confirmation available.; 


uniprotID: Q9UPE1
geneSymbol: SRPK3
length: 567
go: ENSG00000184343;
snps: rs55910507 rs35865042 rs34497419
name:
SRSF protein kinase 3 (EC 2.7.11.1) (Muscle-specific serine kinase 1) (MSSK-1) (Serine/arginine-rich protein-specific kinase 3) (SR-protein-specific kinase 3) (Serine/threonine-protein kinase 23)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; cell differentiation [GO:0030154]; intracellular signal transduction [GO:0035556]; muscle tissue development [GO:0060537]; regulation of gene expression [GO:0010468]; regulation of mRNA processing [GO:0050684]; skeletal muscle tissue development [GO:0007519]; spliceosomal complex assembly [GO:0000245]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UPE1-1; Sequence=Displayed; Name=2; IsoId=Q9UPE1-2; Sequence=VSP_040939, VSP_040940, VSP_040941; Name=3; IsoId=Q9UPE1-3; Sequence=VSP_040940, VSP_040941; Name=4; IsoId=Q9UPE1-4; Sequence=VSP_040940; 


uniprotID: P53597
geneSymbol: SUCLG1
reactome: R-HSA-71403;
pdb: 6G4Q;
length: 346
go: ENSG00000163541;
drug: DB00139;
snps: rs369610897 rs267607097 rs267607099
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03222}.
name:
Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial (EC 6.2.1.4) (EC 6.2.1.5) (Succinyl-CoA synthetase subunit alpha) (SCS-alpha)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; succinate-CoA ligase complex (GDP-forming) [GO:0045244]; cofactor binding [GO:0048037]; GDP binding [GO:0019003]; nucleoside diphosphate kinase activity [GO:0004550]; RNA binding [GO:0003723]; succinate-CoA ligase (ADP-forming) activity [GO:0004775]; succinate-CoA ligase (GDP-forming) activity [GO:0004776]; nucleoside triphosphate biosynthetic process [GO:0009142]; succinate metabolic process [GO:0006105]; succinyl-CoA metabolic process [GO:0006104]; tricarboxylic acid cycle [GO:0006099]


uniprotID: Q6J9G0
geneSymbol: STYK1
length: 422
go: ENSG00000060140;
snps: rs6650202 rs3759259 rs34981955 rs55877878 rs34638573 rs55766125
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Tyrosine-protein kinase STYK1 (EC 2.7.10.2) (Novel oncogene with kinase domain) (Protein PK-unique) (Serine/threonine/tyrosine kinase 1)

sequence:

opentargets:
extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; regulation of cell proliferation [GO:0042127]


uniprotID: Q8NBK3
geneSymbol: SUMF1
reactome: R-HSA-1660662;R-HSA-1663150;
pdb: 1Y1E;1Y1F;1Y1G;1Y1H;1Y1I;1Y1J;1Z70;2AFT;2AFY;2AII;2AIJ;2AIK;2HI8;2HIB;
length: 374
go: ENSG00000144455;
name:
Formylglycine-generating enzyme (FGE) (EC 1.8.3.7) (C-alpha-formylglycine-generating enzyme 1) (Sulfatase-modifying factor 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; cupric ion binding [GO:1903135]; Formylglycine-generating oxidase activity [GO:0120147]; oxidoreductase activity [GO:0016491]; protein homodimerization activity [GO:0042803]; glycosphingolipid metabolic process [GO:0006687]; post-translational protein modification [GO:0043687]; protein oxidation [GO:0018158]

snps:
rs200142963 rs2819590 rs137852850 rs757323641 rs137852854 rs759888604 rs764215221 rs763243827 rs137852849 rs137852848 rs137852852 rs137852853 rs137852847 rs137852846 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8NBK3-1; Sequence=Displayed; Name=2; IsoId=Q8NBK3-2; Sequence=VSP_007877; Note=No experimental confirmation available.; Name=3; IsoId=Q8NBK3-3; Sequence=VSP_013185; Name=4; IsoId=Q8NBK3-4; Sequence=VSP_045414; Note=No experimental confirmation available.; Name=5; IsoId=Q8NBK3-5; Sequence=VSP_045415; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:15657036, ECO:0000269|PubMed:15962010, ECO:0000269|PubMed:18266766, ECO:0000269|PubMed:21224894}.


uniprotID: Q7L1I2
geneSymbol: SV2B
reactome: R-HSA-5250955;R-HSA-5250968;R-HSA-5250981;R-HSA-5250992;
name: Synaptic vesicle glycoprotein 2B
length: 683
go: ENSG00000185518;
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cell junction [GO:0030054]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; transmembrane transporter activity [GO:0022857]; chemical synaptic transmission [GO:0007268]; neurotransmitter transport [GO:0006836]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L1I2-1; Sequence=Displayed; Name=2; IsoId=Q7L1I2-2; Sequence=VSP_045194; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q63564}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q63564}. Note=Associated with synaptic-like microvesicles but not with insulin-containing vesicles in insulin-secreting cells of the pancreas (By similarity). Localizes to microvesicles in the pinealocytes. Localizes to the acrosome in spermatids (By similarity). {ECO:0000250|UniProtKB:Q63564}.


uniprotID: Q9NYW2
geneSymbol: TAS2R8
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 8 (T2R8) (Taste receptor family B member 5) (TRB5)
length: 309
go: ENSG00000121314;
snps: rs2537817
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bitter taste receptor activity [GO:0033038]; G protein-coupled receptor activity [GO:0004930]; taste receptor activity [GO:0008527]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: P21731
geneSymbol: TBXA2R
reactome: R-HSA-391908;R-HSA-416476;R-HSA-416482;R-HSA-428930;
pdb: 1LBN;
name: Thromboxane A2 receptor (TXA2-R) (Prostanoid TP receptor)
length: 343
go: ENSG00000006638;
drug: DB01207;
snps: rs34377097 rs5743 rs5744 rs5746 rs5749 rs5750 rs5751
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; integral component of plasma membrane [GO:0005887]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; guanyl-nucleotide exchange factor activity [GO:0005085]; thromboxane A2 receptor activity [GO:0004961]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cellular response to lipopolysaccharide [GO:0071222]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood coagulation [GO:0030194]; positive regulation of blood pressure [GO:0045777]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of vasoconstriction [GO:0045907]; response to ethanol [GO:0045471]; response to nutrient [GO:0007584]; response to testosterone [GO:0033574]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha; IsoId=P21731-3; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=P21731-2; Sequence=VSP_001925; 


uniprotID: Q9NYV8
geneSymbol: TAS2R14
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 14 (T2R14) (Taste receptor family B member 1) (TRB1)
length: 317
go: ENSG00000212127;
snps: rs16925868 rs35804287
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9NYW7
geneSymbol: TAS2R1
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 1 (T2R1) (Taste receptor family B member 7) (TRB7)
length: 299
go: ENSG00000169777;
snps: rs41469 rs2234232 rs2234233
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8N5C8
geneSymbol: TAB3
length: 712
go: ENSG00000157625;
snps: rs5927629
reactome:
R-HSA-168638;R-HSA-2871837;R-HSA-445989;R-HSA-450302;R-HSA-450321;R-HSA-5357956;R-HSA-5607764;R-HSA-9014325;R-HSA-9020702;R-HSA-937042;R-HSA-937072;R-HSA-975163;

name:
TGF-beta-activated kinase 1 and MAP3K7-binding protein 3 (Mitogen-activated protein kinase kinase kinase 7-interacting protein 3) (NF-kappa-B-activating protein 1) (TAK1-binding protein 3) (TAB-3) (TGF-beta-activated kinase 1-binding protein 3)

sequence:

opentargets:
cytosol [GO:0005829]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; activation of MAPK activity [GO:0000187]; Fc-epsilon receptor signaling pathway [GO:0038095]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; interleukin-1-mediated signaling pathway [GO:0070498]; JNK cascade [GO:0007254]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of autophagy [GO:0010507]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Tab3a; IsoId=Q8N5C8-1; Sequence=Displayed; Name=2; Synonyms=Tab3b; IsoId=Q8N5C8-2; Sequence=VSP_017516; 


uniprotID: Q7RTR8
geneSymbol: TAS2R42
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 42 (T2R42) (Taste receptor type 2 member 55) (T2R55)
length: 314
snps: rs35969491 rs5020531 rs1669413 rs1451772 rs1669412 rs1650017
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q8IZX4
geneSymbol: TAF1L
pdb: 3HMH;5IGL;
length: 1826
go: ENSG00000122728;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Transcription initiation factor TFIID subunit 1-like (TAF(II)210) (TBP-associated factor 1-like) (TBP-associated factor 210 kDa) (Transcription initiation factor TFIID 210 kDa subunit)

sequence:

opentargets:
nucleoplasm [GO:0005654]; transcription factor TFIID complex [GO:0005669]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone acetyltransferase activity [GO:0004402]; lysine-acetylated histone binding [GO:0070577]; protein serine/threonine kinase activity [GO:0004674]; sequence-specific DNA binding [GO:0043565]; TBP-class protein binding [GO:0017025]; male meiotic nuclear division [GO:0007140]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of transcription by RNA polymerase II [GO:0006357]; RNA polymerase II preinitiation complex assembly [GO:0051123]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]

snps:
rs56352331 rs55991718 rs17219559 rs56128445 rs56157814 rs34787787 rs35905429 rs55767137 rs55976674 rs55824107 rs56107531 rs56393725 rs34500740 rs55782058 rs34241003 rs16918393 rs56342342 


uniprotID: P13984
geneSymbol: GTF2F2
pdb: 1BBY;1F3U;2BBY;5IY6;5IY7;5IY8;5IY9;5IYA;5IYB;5IYC;5IYD;
length: 249
go: ENSG00000188342;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10454543}.
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167160;R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-167200;R-HSA-167238;R-HSA-167242;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-168325;R-HSA-674695;R-HSA-6796648;R-HSA-6803529;R-HSA-6807505;R-HSA-72086;R-HSA-72163;R-HSA-72165;R-HSA-72203;R-HSA-73776;R-HSA-73779;R-HSA-75953;R-HSA-75955;R-HSA-76042;R-HSA-77075;R-HSA-8851708;R-HSA-9018519;

name:
General transcription factor IIF subunit 2 (EC 3.6.4.12) (ATP-dependent helicase GTF2F2) (General transcription factor IIF 30 kDa subunit) (Transcription initiation factor IIF subunit beta) (TFIIF-beta) (Transcription initiation factor RAP30)

sequence:

opentargets:
microtubule cytoskeleton [GO:0015630]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor TFIIF complex [GO:0005674]; transcriptional preinitiation complex [GO:0097550]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; 7-methylguanosine mRNA capping [GO:0006370]; fibroblast growth factor receptor signaling pathway [GO:0008543]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; RNA metabolic process [GO:0016070]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q96BN2
geneSymbol: TADA1
reactome: R-HSA-3214847;
length: 335
go: ENSG00000152382;
snps: rs2272792
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11564863}.
name:
Transcriptional adapter 1 (SPT3-associated factor 42) (STAF42) (Transcriptional adapter 1-like protein)

sequence:

opentargets:
cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SAGA complex [GO:0000124]; STAGA complex [GO:0030914]; transcription coactivator activity [GO:0003713]; histone H3 acetylation [GO:0043966]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q9C0D5
geneSymbol: TANC1
length: 1861
go: ENSG00000115183;
snps: rs34588551 rs12466551 rs13421084 rs4664277
name:
Protein TANC1 (Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1)

sequence:

opentargets:
axon terminus [GO:0043679]; cell junction [GO:0030054]; dendrite [GO:0030425]; neuronal cell body [GO:0043025]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; dendritic spine maintenance [GO:0097062]; myoblast fusion [GO:0007520]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C0D5-1; Sequence=Displayed; Name=2; IsoId=Q9C0D5-2; Sequence=VSP_030828; Note=Incomplete sequence. No experimental confirmation available.; 

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


uniprotID: Q9Y6J9
geneSymbol: TAF6L
reactome: R-HSA-3214847;
length: 622
go: ENSG00000162227;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11564863, ECO:0000269|PubMed:9674425}.
name:
TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L (PCAF-associated factor 65-alpha) (PAF65-alpha)

sequence:

opentargets:
extracellular exosome [GO:0070062]; histone deacetylase complex [GO:0000118]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SAGA complex [GO:0000124]; SLIK (SAGA-like) complex [GO:0046695]; STAGA complex [GO:0030914]; transcription factor TFIID complex [GO:0005669]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; RNA polymerase II activating transcription factor binding [GO:0001102]; transcription coactivator activity [GO:0003713]; chromatin organization [GO:0006325]; chromatin remodeling [GO:0006338]; DNA-templated transcription, initiation [GO:0006352]; histone H3 acetylation [GO:0043966]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q8N3R3
geneSymbol: TCAIM
name: T-cell activation inhibitor, mitochondrial (Tolerance associated gene-1 protein) (TOAG-1)
length: 496
go: ENSG00000179152;
opentargets: mitochondrion [GO:0005739]
snps: rs35830741
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N3R3-1; Sequence=Displayed; Name=2; IsoId=Q8N3R3-2; Sequence=VSP_018471, VSP_018472; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=3; IsoId=Q8N3R3-3; Sequence=VSP_018469, VSP_018470; Name=4; IsoId=Q8N3R3-4; Sequence=VSP_038421; 


uniprotID: Q13247
geneSymbol: SRSF6
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72165;R-HSA-72187;
length: 344
go: ENSG00000124193;
name:
Serine/arginine-rich splicing factor 6 (Pre-mRNA-splicing factor SRP55) (Splicing factor, arginine/serine-rich 6)

sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; pre-mRNA binding [GO:0036002]; RNA binding [GO:0003723]; alternative mRNA splicing, via spliceosome [GO:0000380]; mRNA 3'-end processing [GO:0031124]; mRNA cis splicing, via spliceosome [GO:0045292]; mRNA export from nucleus [GO:0006406]; mRNA splice site selection [GO:0006376]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of cell death [GO:0060548]; negative regulation of keratinocyte differentiation [GO:0045617]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; negative regulation of type B pancreatic cell apoptotic process [GO:2000675]; positive regulation of epithelial cell proliferation involved in lung morphogenesis [GO:0060501]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of keratinocyte proliferation [GO:0010837]; regulation of wound healing [GO:0061041]; response to insulin [GO:0032868]; RNA export from nucleus [GO:0006405]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=SRP55-1; IsoId=Q13247-1; Sequence=Displayed; Name=SRP55-2; IsoId=Q13247-2; Sequence=VSP_005869, VSP_005870; Name=SRP55-3; IsoId=Q13247-3; Sequence=VSP_005871; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12549914, ECO:0000269|PubMed:22767602}. Nucleus speckle {ECO:0000269|PubMed:22767602}.


uniprotID: A6NGW2
geneSymbol: STRCP1
name: Putative stereocilin-like protein (Stereocilin pseudogene 1)
length: 1772
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; kinocilium [GO:0060091]; stereocilium tip [GO:0032426]; cell-matrix adhesion [GO:0007160]


uniprotID: Q8IWZ8
geneSymbol: SUGP1
reactome: R-HSA-72163;
name: SURP and G-patch domain-containing protein 1 (RNA-binding protein RBP) (Splicing factor 4)
length: 645
go: ENSG00000105705;
snps: rs17751061 rs1044980
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; spliceosomal complex [GO:0005681]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=RNA-binding protein splice variant A; IsoId=Q8IWZ8-1; Sequence=Displayed; Name=2; Synonyms=RNA-binding protein splice variant B; IsoId=Q8IWZ8-2; Sequence=VSP_013109, VSP_013110; 


uniprotID: B6A8C7
geneSymbol: TARM1
reactome: R-HSA-6798695;
length: 271
snps: rs17305269 rs80087697 rs77768804
name:
T-cell-interacting, activating receptor on myeloid cells protein 1 (OSCAR-like transcript-2 protein) (OLT-2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; immunoglobulin receptor binding [GO:0034987]; adaptive immune response [GO:0002250]; innate immune response [GO:0045087]; negative regulation of CD4-positive, alpha-beta T cell activation [GO:2000515]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=B6A8C7-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=B6A8C7-2; Sequence=VSP_039225; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26311901}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: Q9NVA4
geneSymbol: TMEM184C
name: Transmembrane protein 184C (Transmembrane protein 34)
length: 438
go: ENSG00000164168;
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=Q9NVA4-1; Sequence=Displayed; Name=2; IsoId=Q9NVA4-2; Sequence=VSP_025566; Note=No experimental confirmation available.; 


uniprotID: Q8NFB2
geneSymbol: TMEM185A
name: Transmembrane protein 185A (Protein FAM11A)
length: 350
opentargets: dendrite [GO:0030425]; integral component of membrane [GO:0016021]
snps: rs396058 rs609828
sequence:

location:
SUBCELLULAR LOCATION: Cell projection, dendrite {ECO:0000250}. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: P59551
geneSymbol: TAS2R60
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 60 (T2R60) (Taste receptor type 2 member 56) (T2R56)
length: 318
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bitter taste receptor activity [GO:0033038]; G protein-coupled receptor activity [GO:0004930]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; G protein-coupled receptor signaling pathway [GO:0007186]; sensory perception of bitter taste [GO:0050913]


uniprotID: Q9NYV7
geneSymbol: TAS2R16
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 16 (T2R16)
length: 291
go: ENSG00000128519;
snps: rs846664 rs860170
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; bitter taste receptor activity [GO:0033038]; G protein-coupled receptor activity [GO:0004930]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; G protein-coupled receptor signaling pathway [GO:0007186]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16720576}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q96J01
geneSymbol: THOC3
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72187;
name: THO complex subunit 3 (Tho3) (TEX1 homolog) (hTREX45)
length: 351
go: ENSG00000051596;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Nucleus speckle {ECO:0000305}.
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; THO complex part of transcription export complex [GO:0000445]; transcription export complex [GO:0000346]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; RNA export from nucleus [GO:0006405]; RNA splicing [GO:0008380]; viral mRNA export from host cell nucleus [GO:0046784]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96J01-1; Sequence=Displayed; Name=2; IsoId=Q96J01-2; Sequence=VSP_056173; Note=No experimental confirmation available.; 


uniprotID: P59537
geneSymbol: TAS2R43
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 43 (T2R43) (Taste receptor type 2 member 52) (T2R52)
length: 309
sequence:

opentargets:
ciliary membrane [GO:0060170]; integral component of membrane [GO:0016021]; motile cilium [GO:0031514]; plasma membrane [GO:0005886]; bitter taste receptor activity [GO:0033038]; G protein-coupled receptor activity [GO:0004930]; taste receptor activity [GO:0008527]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; G protein-coupled receptor signaling pathway [GO:0007186]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:19628819}; Multi-pass membrane protein {ECO:0000269|PubMed:19628819}. Cell projection, cilium membrane {ECO:0000269|PubMed:19628819}. Note=In airway epithelial cells, localizes to motile cilia.


uniprotID: O75410
geneSymbol: TACC1
name: Transforming acidic coiled-coil-containing protein 1 (Gastric cancer antigen Ga55) (Taxin-1)
length: 805
go: ENSG00000147526;
snps: rs34235313 rs6980553 rs10107016
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; nucleus [GO:0005634]; cell cycle [GO:0007049]; cell division [GO:0051301]; cell proliferation [GO:0008283]; cerebral cortex development [GO:0021987]; microtubule cytoskeleton organization [GO:0000226]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=A, Long; IsoId=O75410-1; Sequence=Displayed; Name=2; Synonyms=F; IsoId=O75410-2; Sequence=VSP_012647; Name=3; Synonyms=E; IsoId=O75410-3; Sequence=VSP_012638; Name=4; Synonyms=D; IsoId=O75410-4; Sequence=VSP_012641, VSP_012642; Name=5; Synonyms=C; IsoId=O75410-5; Sequence=VSP_012639, VSP_012646; Name=6; Synonyms=Short; IsoId=O75410-6; Sequence=VSP_012644, VSP_012645; Name=7; IsoId=O75410-7; Sequence=VSP_012637, VSP_012643, VSP_012648; Name=8; IsoId=O75410-8; Sequence=VSP_012640; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14767476}. Nucleus {ECO:0000269|PubMed:14767476}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:21531210}. Midbody {ECO:0000269|PubMed:21531210}. Note=Nucleus during interphase. Weakly concentrated at centrosomes during mitosis and colocalizes with AURKC at the midbody during cytokinesis. {ECO:0000269|PubMed:21531210}.; SUBCELLULAR LOCATION: Isoform 5: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: O95359
geneSymbol: TACC2
name: Transforming acidic coiled-coil-containing protein 2 (Anti-Zuai-1) (AZU-1)
length: 2948
go: ENSG00000138162;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; nuclear hormone receptor binding [GO:0035257]; cell proliferation [GO:0008283]; cerebral cortex development [GO:0021987]; microtubule cytoskeleton organization [GO:0000226]

snps:
rs11200385 rs10887063 rs7073433 rs4752642 rs7920896 rs12765679 rs7083331 rs3750843 rs2295873 rs2295874 rs2295875 rs2295876 rs11200483 rs2295878 rs2295879 rs1063627 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=4; Synonyms=Long, TACC2s; IsoId=O95359-4; Sequence=Displayed; Name=1; Synonyms=Short; IsoId=O95359-1; Sequence=VSP_022153, VSP_022156; Name=2; IsoId=O95359-2; Sequence=VSP_022151, VSP_006368, VSP_006369; Name=3; Synonyms=ECTACC; IsoId=O95359-3; Sequence=VSP_006369; Name=5; Synonyms=TACC21; IsoId=O95359-5; Sequence=VSP_022154, VSP_022155; Name=6; IsoId=O95359-6; Sequence=VSP_022153, VSP_022156, VSP_022158; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10749935}. Nucleus {ECO:0000269|PubMed:10749935, ECO:0000269|PubMed:14767476}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:15304323}.


uniprotID: Q13769
geneSymbol: THOC5
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72187;
length: 683
go: ENSG00000100296;
snps: rs8141153 rs737976 rs1049534
name:
THO complex subunit 5 homolog (Functional spliceosome-associated protein 79) (fSAP79) (NF2/meningioma region protein pK1.3) (Placental protein 39.2) (PP39.2) (hTREX90)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromosome [GO:0000228]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; THO complex [GO:0000347]; THO complex part of transcription export complex [GO:0000445]; transcription export complex [GO:0000346]; mRNA binding [GO:0003729]; monocyte differentiation [GO:0030224]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; negative regulation of DNA damage checkpoint [GO:2000002]; positive regulation of DNA-templated transcription, elongation [GO:0032786]; primitive hemopoiesis [GO:0060215]; RNA export from nucleus [GO:0006405]; RNA splicing [GO:0008380]; viral mRNA export from host cell nucleus [GO:0046784]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19059247, ECO:0000269|PubMed:19165146}. Cytoplasm {ECO:0000269|PubMed:19059247}. Note=Shuttles between nucleus and cytoplasm. {ECO:0000269|PubMed:19059247}.


uniprotID: P0CG35
geneSymbol: TMSB15B
name: Thymosin beta-15B
sequence: MSDKPDLSEVEKFDRSKLKKTNTEEKNTLPSKETIQQEKECVQTS
length: 45
go: ENSG00000158164;ENSG00000158427;ENSG00000269226;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; actin monomer binding [GO:0003785]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; actin filament organization [GO:0007015]; positive regulation of cell migration [GO:0030335]; regulation of cell migration [GO:0030334]; sequestering of actin monomers [GO:0042989]


uniprotID: P49588
geneSymbol: AARS
reactome: R-HSA-379716;
pdb: 4XEM;4XEO;5KNN;5T5S;5T76;5V59;
length: 968
go: ENSG00000090861;
drug: DB00160;
snps: rs387906792 rs786205157 rs11537667 rs267606621 rs143370729 rs369774476
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03133, ECO:0000269|PubMed:27911835}.
name:
Alanine--tRNA ligase, cytoplasmic (EC 6.1.1.7) (Alanyl-tRNA synthetase) (AlaRS) (Renal carcinoma antigen NY-REN-42)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; alanine-tRNA ligase activity [GO:0004813]; amino acid binding [GO:0016597]; aminoacyl-tRNA editing activity [GO:0002161]; ATP binding [GO:0005524]; Ser-tRNA(Ala) hydrolase activity [GO:0002196]; translation regulator activity [GO:0045182]; tRNA binding [GO:0000049]; zinc ion binding [GO:0008270]; alanyl-tRNA aminoacylation [GO:0006419]; cerebellar Purkinje cell layer development [GO:0021680]; negative regulation of neuron apoptotic process [GO:0043524]; neuromuscular process controlling balance [GO:0050885]; regulation of cytoplasmic translational fidelity [GO:0140018]; tRNA aminoacylation for protein translation [GO:0006418]; tRNA modification [GO:0006400]; tRNA processing [GO:0008033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49588-1; Sequence=Displayed; Name=2; IsoId=P49588-2; Sequence=VSP_057201, VSP_057202; Note=No experimental confirmation available.; 


uniprotID: A6NEL2
geneSymbol: SOWAHB
length: 793
go: ENSG00000186212;
snps: rs2703129 rs2703130
name:
Ankyrin repeat domain-containing protein SOWAHB (Ankyrin repeat domain-containing protein 56) (Protein sosondowah homolog B)

sequence:


uniprotID: O75157
geneSymbol: TSC22D2
name: TSC22 domain family protein 2 (TSC22-related-inducible leucine zipper protein 4)
length: 780
go: ENSG00000196428;
snps: rs879634
sequence:

opentargets:
DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; response to osmotic stress [GO:0006970]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=TILZ4a, TILZ4c; IsoId=O75157-1; Sequence=Displayed; Name=2; Synonyms=TILZ4b; IsoId=O75157-2; Sequence=VSP_013202; 


uniprotID: Q6ZVK1
geneSymbol: TMEM179
name: Transmembrane protein 179 (Transmembrane protein 179A)
length: 233
go: ENSG00000258986;
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=Q6ZVK1-1; Sequence=Displayed; Name=2; IsoId=Q6ZVK1-2; Sequence=VSP_021227, VSP_021228; Note=No experimental confirmation available.; 


uniprotID: P30408
geneSymbol: TM4SF1
length: 202
go: ENSG00000169908;
opentargets: integral component of plasma membrane [GO:0005887]; blastocyst formation [GO:0001825]
name:
Transmembrane 4 L6 family member 1 (Membrane component chromosome 3 surface marker 1) (Tumor-associated antigen L6)

sequence:

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Note=Colocalizes with SDCBP2 in the apical region of the cell (PubMed:11102519). {ECO:0000269|PubMed:11102519}.


uniprotID: Q9NYW0
geneSymbol: TAS2R10
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 10 (T2R10) (Taste receptor family B member 2) (TRB2)
length: 307
go: ENSG00000121318;
snps: rs597468
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:


uniprotID: P48230
geneSymbol: TM4SF4
name: Transmembrane 4 L6 family member 4 (Intestine and liver tetraspan membrane protein) (IL-TMP)
length: 202
go: ENSG00000169903;
opentargets: integral component of membrane [GO:0016021]; tissue regeneration [GO:0042246]
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9Y228
geneSymbol: TRAF3IP3
name: TRAF3-interacting JNK-activating modulator (TRAF3-interacting protein 3)
length: 551
go: ENSG00000009790;
opentargets: integral component of membrane [GO:0016021]
snps: rs669694
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y228-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9Y228-2; Sequence=VSP_017271; Name=3; IsoId=Q9Y228-3; Sequence=VSP_017272, VSP_017273; Note=No experimental confirmation available.; 


uniprotID: Q96A56
geneSymbol: TP53INP1
reactome: R-HSA-6803204;R-HSA-6804756;
length: 240
go: ENSG00000164938;
snps: rs11991800
name:
Tumor protein p53-inducible nuclear protein 1 (Stress-induced protein) (p53-dependent damage-inducible nuclear protein 1) (p53DINP1)

sequence:

opentargets:
autophagosome [GO:0005776]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; antioxidant activity [GO:0016209]; apoptotic process [GO:0006915]; autophagic cell death [GO:0048102]; autophagosome assembly [GO:0000045]; cell cycle arrest [GO:0007050]; cellular response to ethanol [GO:0071361]; cellular response to hydroperoxide [GO:0071447]; cellular response to methyl methanesulfonate [GO:0072703]; cellular response to UV [GO:0034644]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of gene expression [GO:0010629]; negative regulation of myofibroblast differentiation [GO:1904761]; positive regulation of apoptotic process [GO:0043065]; positive regulation of autophagy [GO:0010508]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of apoptotic process [GO:0042981]; regulation of signal transduction by p53 class mediator [GO:1901796]; response to heat [GO:0009408]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=p53DINP1a, alpha, SIP27, TEAP; IsoId=Q96A56-1; Sequence=Displayed; Name=2; Synonyms=p53DINP1b, beta, SIP18; IsoId=Q96A56-2; Sequence=VSP_013176; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Nucleus. Nucleus, PML body. Cytoplasmic vesicle, autophagosome. Note=Shuttles between the nucleus and the cytoplasm, depending on cellular stress conditions, and re-localizes to autophagosomes on autophagy activation.


uniprotID: Q9NYW6
geneSymbol: TAS2R3
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 3 (T2R3)
length: 316
go: ENSG00000127362;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NI27
geneSymbol: THOC2
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72187;
name: THO complex subunit 2 (Tho2) (hTREX120)
length: 1593
go: ENSG00000125676;
snps: rs797045019 rs797045018 rs797045021 rs797045020
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Nucleus speckle {ECO:0000305}.
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; THO complex [GO:0000347]; THO complex part of transcription export complex [GO:0000445]; transcription export complex [GO:0000346]; mRNA binding [GO:0003729]; generation of neurons [GO:0048699]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; neuron development [GO:0048666]; poly(A)+ mRNA export from nucleus [GO:0016973]; RNA export from nucleus [GO:0006405]; RNA splicing [GO:0008380]; viral mRNA export from host cell nucleus [GO:0046784]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NI27-1; Sequence=Displayed; Name=2; IsoId=Q8NI27-2; Sequence=VSP_008588; Note=No experimental confirmation available.; 


uniprotID: Q9NYW5
geneSymbol: TAS2R4
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 4 (T2R4)
length: 299
go: ENSG00000127364;
snps: rs2233995 rs2233998 rs2233999 rs2234000 rs2234001 rs2234002 rs2234003
sequence:

opentargets:
ciliary membrane [GO:0060170]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bitter taste receptor activity [GO:0033038]; G protein-coupled receptor activity [GO:0004930]; taste receptor activity [GO:0008527]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; G protein-coupled receptor signaling pathway [GO:0007186]; respiratory gaseous exchange [GO:0007585]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:19628819}; Multi-pass membrane protein {ECO:0000269|PubMed:19628819}. Cell projection, cilium membrane {ECO:0000269|PubMed:19628819}. Note=In airway epithelial cells, localizes to motile cilia.


uniprotID: P59543
geneSymbol: TAS2R20
reactome: R-HSA-418594;R-HSA-420499;
length: 309
go: ENSG00000255837;
snps: rs7135018 rs12226920 rs12226919 rs10845281 rs10845280 rs10845279
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Taste receptor type 2 member 20 (Taste receptor type 2 member 49) (T2R49) (Taste receptor type 2 member 56) (T2R56)

sequence:


uniprotID: P21675
geneSymbol: TAF1
pdb: 1EQF;3AAD;3UV4;3UV5;4RGW;4YYM;4YYN;5FUR;5I1Q;5I29;5MG2;6FIC;
length: 1872
go: ENSG00000147133;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:2038334, ECO:0000269|PubMed:27007846}.
name:
Transcription initiation factor TFIID subunit 1 (EC 2.3.1.48) (EC 2.7.11.1) (Cell cycle gene 1 protein) (TBP-associated factor 250 kDa) (p250) (Transcription initiation factor TFIID 250 kDa subunit) (TAF(II)250) (TAFII-250) (TAFII250)

sequence:

opentargets:
MLL1 complex [GO:0071339]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; transcription factor TFIID complex [GO:0005669]; ATP binding [GO:0005524]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone acetyltransferase activity [GO:0004402]; kinase activity [GO:0016301]; lysine-acetylated histone binding [GO:0070577]; nuclear hormone receptor binding [GO:0035257]; p53 binding [GO:0002039]; protein heterodimerization activity [GO:0046982]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II sequence-specific DNA-binding transcription factor binding [GO:0061629]; sequence-specific DNA binding [GO:0043565]; TBP-class protein binding [GO:0017025]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; ubiquitin conjugating enzyme activity [GO:0061631]; cell cycle [GO:0007049]; cellular response to ATP [GO:0071318]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to UV [GO:0034644]; DNA-templated transcription, initiation [GO:0006352]; midbrain development [GO:0030901]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of gene expression [GO:0010629]; negative regulation of protein autoubiquitination [GO:1905524]; negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding [GO:1903026]; negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage [GO:0010768]; negative regulation of ubiquitin-dependent protein catabolic process [GO:2000059]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of androgen receptor activity [GO:2000825]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein binding [GO:0032092]; positive regulation of transcription by RNA polymerase I [GO:0045943]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription initiation from RNA polymerase II promoter [GO:0060261]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; protein polyubiquitination [GO:0000209]; protein stabilization [GO:0050821]; regulation of cell cycle G1/S phase transition [GO:1902806]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of transcription initiation from RNA polymerase II promoter [GO:0060260]; regulation of transcription, DNA-templated [GO:0006355]; RNA polymerase II preinitiation complex assembly [GO:0051123]; transcription by RNA polymerase II [GO:0006366]; transcription factor catabolic process [GO:0036369]; transcription initiation from RNA polymerase II promoter [GO:0006367]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]

snps:
rs28382158 rs35317750 rs200177996 rs864321630 rs864321628 rs864321631 rs864321629 rs864321627 rs7050748 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Comment=the TAF1/DYT3 multiple transcript system is composed of 38 evolutionary conserved exons plus 5 downstream exons referred to as exons d1-d5 that are primate-specific. Multiple highly polymorphic variants can be generated by splicing exons d3 and d4 to various combinations of exons 1-37.; Name=1; IsoId=P21675-1; Sequence=Displayed; Name=2; IsoId=P21675-2; Sequence=VSP_012362; Name=3; IsoId=P21675-3; Sequence=VSP_053382, VSP_053383, VSP_053384; Name=4; IsoId=P21675-4; Sequence=VSP_053383; Name=2a; IsoId=P21675-5; Sequence=VSP_053383, VSP_053384; Name=2c; IsoId=P21675-6; Sequence=VSP_053384; Name=2d; IsoId=P21675-7; Sequence=VSP_053381, VSP_053384; Name=2e; Synonyms=2F; IsoId=P21675-8; Sequence=VSP_053379, VSP_053380; Name=2g; IsoId=P21675-9; Sequence=VSP_053381, VSP_053383, VSP_053384; Name=2h; IsoId=P21675-10; Sequence=VSP_053375, VSP_053377; Name=2i; IsoId=P21675-11; Sequence=VSP_053376, VSP_053378; Name=N-TAF1; Synonyms=TA14-391; IsoId=P21675-12; Sequence=VSP_012362, VSP_053381; Note=Only detected in brain, highest expression in the caudate nucleus.; 


uniprotID: Q9P1P4
geneSymbol: TAAR3P
reactome: R-HSA-375280;R-HSA-418555;
length: 343
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
name:
Putative trace amine-associated receptor 3 (TaR-3) (Trace amine receptor 3) (hTaar3) (G-protein coupled receptor 57)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; trace-amine receptor activity [GO:0001594]; sensory perception of chemical stimulus [GO:0007606]


uniprotID: Q86W42
geneSymbol: THOC6
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72187;
length: 341
go: ENSG00000131652;
snps: rs587777030
name:
THO complex subunit 6 homolog (Functional spliceosome-associated protein 35) (fSAP35) (WD repeat-containing protein 58)

sequence:

opentargets:
nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; THO complex [GO:0000347]; THO complex part of transcription export complex [GO:0000445]; transcription export complex [GO:0000346]; RNA binding [GO:0003723]; apoptotic process [GO:0006915]; central nervous system development [GO:0007417]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; negative regulation of apoptotic process [GO:0043066]; RNA export from nucleus [GO:0006405]; RNA splicing [GO:0008380]; viral mRNA export from host cell nucleus [GO:0046784]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86W42-1; Sequence=Displayed; Name=2; Synonyms=hTREX40; IsoId=Q86W42-2; Sequence=VSP_018079; Note=No experimental confirmation available.; Name=3; IsoId=Q86W42-3; Sequence=VSP_018078; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23621916}. Nucleus speckle {ECO:0000305|PubMed:23621916}.


uniprotID: Q96BW9
geneSymbol: TAMM41
length: 452
go: ENSG00000144559;
snps: rs7641243 rs11551661
name:
Phosphatidate cytidylyltransferase, mitochondrial (EC 2.7.7.41) (CDP-diacylglycerol synthase) (CDP-DAG synthase) (Mitochondrial translocator assembly and maintenance protein 41 homolog) (TAM41)

sequence:

opentargets:
extrinsic component of mitochondrial inner membrane [GO:0031314]; phosphatidate cytidylyltransferase activity [GO:0004605]; cardiolipin biosynthetic process [GO:0032049]; CDP-diacylglycerol biosynthetic process [GO:0016024]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96BW9-1; Sequence=Displayed; Name=2; IsoId=Q96BW9-2; Sequence=VSP_053905, VSP_053906; Note=No experimental confirmation available.; Name=3; IsoId=Q96BW9-3; Sequence=VSP_055724, VSP_055725; Note=Gene prediction based on EST data.; 


uniprotID: Q9HCD6
geneSymbol: TANC2
length: 1990
go: ENSG00000170921;
name:
Protein TANC2 (Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2)

sequence:

opentargets:
glutamatergic synapse [GO:0098978]; postsynaptic density, intracellular component [GO:0099092]; in utero embryonic development [GO:0001701]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9HCD6-1; Sequence=Displayed; Name=2; IsoId=Q9HCD6-2; Sequence=VSP_033550; Name=3; IsoId=Q9HCD6-3; Sequence=VSP_033546, VSP_033547; Note=No experimental confirmation available.; Name=4; IsoId=Q9HCD6-4; Sequence=VSP_033548, VSP_033549; Note=No experimental confirmation available.; 


uniprotID: Q15170
geneSymbol: TCEAL1
length: 157
go: ENSG00000172465;
snps: rs34421776
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcription elongation factor A protein-like 1 (TCEA-like protein 1) (Nuclear phosphoprotein p21/SIIR) (Transcription elongation factor S-II protein-like 1)

sequence:
MDKPRKENEEEPQSRPRPMRRGLRWSTLPKSSPPRSSLRRSSPRRRSSFLRSSCLSSCLRCSSRRTPSAGLSRKDLFEGRPPMEQPPCGVGKHKLEEGSFKERLARSRPQFRGDIHGRNLSNEEMIQAADELEEMKRVRNKLMIMHWKAKRSRPYPI

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; WW domain binding [GO:0050699]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15170-1; Sequence=Displayed; Name=2; IsoId=Q15170-2; Sequence=VSP_019108; 


uniprotID: P78371
geneSymbol: CCT2
reactome: R-HSA-389957;R-HSA-389960;R-HSA-390450;R-HSA-390471;R-HSA-5620922;R-HSA-6798695;R-HSA-6814122;
name: T-complex protein 1 subunit beta (TCP-1-beta) (CCT-beta)
length: 535
go: ENSG00000166226;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20080638}.
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cell body [GO:0044297]; chaperonin-containing T-complex [GO:0005832]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; microtubule [GO:0005874]; myelin sheath [GO:0043209]; zona pellucida receptor complex [GO:0002199]; ATP binding [GO:0005524]; protein binding involved in protein folding [GO:0044183]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; binding of sperm to zona pellucida [GO:0007339]; chaperone mediated protein folding independent of cofactor [GO:0051086]; chaperone-mediated protein complex assembly [GO:0051131]; neutrophil degranulation [GO:0043312]; positive regulation of establishment of protein localization to telomere [GO:1904851]; positive regulation of protein localization to Cajal body [GO:1904871]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomerase RNA localization to Cajal body [GO:1904874]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protein folding [GO:0006457]; protein stabilization [GO:0050821]; scaRNA localization to Cajal body [GO:0090666]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78371-1; Sequence=Displayed; Name=2; IsoId=P78371-2; Sequence=VSP_042648; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; 


uniprotID: Q9HAU6
geneSymbol: TPT1P8
length: 139
opentargets: cytoplasm [GO:0005737]; calcium ion binding [GO:0005509]; apoptotic process [GO:0006915]
name:
Putative translationally-controlled tumor protein-like protein TPT1P8 (Putative apoptosis inhibitor FKSG2)

sequence:
MIIFQDLISHNEMFSDIYKIWEITNGLCLEVEQKMLSKTTGNTDDSLIGRNSSSESTEDEVTESTIITSVDIVTNHHLQESIFTKEAYKKYIKDYMKSINEKLEEQRPERVKLFITGMKNKSSTSLLIFKTTSSLLVKT


uniprotID: Q15527
geneSymbol: SURF2
name: Surfeit locus protein 2 (Surf-2)
length: 256
snps: rs12763 rs7863933
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]


uniprotID: O15260
geneSymbol: SURF4
reactome: R-HSA-6798695;R-HSA-6811434;
name: Surfeit locus protein 4
length: 269
go: ENSG00000148248;
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; transport vesicle [GO:0030133]; Golgi organization [GO:0007030]; neutrophil degranulation [GO:0043312]; positive regulation of organelle organization [GO:0010638]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15260-1; Sequence=Displayed; Name=2; IsoId=O15260-2; Sequence=VSP_006307, VSP_006308; Name=3; IsoId=O15260-3; Sequence=VSP_054686, VSP_054687; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15308636, ECO:0000269|PubMed:18287528}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:18287528}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:18287528}; Multi-pass membrane protein {ECO:0000255}. Note=Cycles between the endoplasmic reticulum and the Golgi. {ECO:0000269|PubMed:18287528}.


uniprotID: O60279
geneSymbol: SUSD5
name: Sushi domain-containing protein 5
length: 629
go: ENSG00000173705;
snps: rs9637517 rs9637517 rs9872477 rs9872477 rs6810039
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; hyaluronic acid binding [GO:0005540]; cell adhesion [GO:0007155]; Notch signaling pathway [GO:0007219]


uniprotID: Q4LDE5
geneSymbol: SVEP1
length: 3571
go: ENSG00000165124;
name:
Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 (CCP module-containing protein 22) (Polydom) (Selectin-like osteoblast-derived protein) (SEL-OB) (Serologically defined breast cancer antigen NY-BR-38)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; chromatin binding [GO:0003682]; cell adhesion [GO:0007155]

snps:
rs3818764 rs10980419 rs872665 rs10817033 rs13286541 rs10817025 rs7038903 rs10817021 rs1889323 rs7863519 rs7852962 rs2986671 rs17204832 rs3802433 rs7030192 rs16914996 rs3739451 rs16914992 rs17204533 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q4LDE5-1; Sequence=Displayed; Name=2; IsoId=Q4LDE5-2; Sequence=VSP_031626, VSP_031627; Name=3; IsoId=Q4LDE5-3; Sequence=VSP_031625; Name=4; IsoId=Q4LDE5-4; Sequence=VSP_031628; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:16206243}. Membrane {ECO:0000269|PubMed:16206243}; Peripheral membrane protein {ECO:0000269|PubMed:16206243}.


uniprotID: Q1ZZU3
geneSymbol: SWI5
name: DNA repair protein SWI5 homolog (HBV DNAPTP1-transactivated protein A) (Protein SAE3 homolog)
length: 235
go: ENSG00000175854;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; Swi5-Sfr1 complex [GO:0032798]; cellular response to ionizing radiation [GO:0071479]; DNA recombinase assembly [GO:0000730]; double-strand break repair via homologous recombination [GO:0000724]


uniprotID: Q96CE8
geneSymbol: TM4SF18
name: Transmembrane 4 L6 family member 18
length: 201
go: ENSG00000163762;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q969N4
geneSymbol: TAAR8
reactome: R-HSA-375280;R-HSA-418555;
length: 342
go: ENSG00000146385;
snps: rs8192626 rs187426282 rs8192627
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Trace amine-associated receptor 8 (TaR-8) (Trace amine receptor 8) (G-protein coupled receptor 102) (Trace amine receptor 5) (TaR-5)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; trace-amine receptor activity [GO:0001594]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q15750
geneSymbol: TAB1
length: 504
go: ENSG00000100324;
snps: rs17001096
reactome:
R-HSA-168638;R-HSA-2871837;R-HSA-445989;R-HSA-450302;R-HSA-450321;R-HSA-5357956;R-HSA-5607764;R-HSA-5689880;R-HSA-9014325;R-HSA-9020702;R-HSA-937042;R-HSA-937072;R-HSA-975163;

pdb:
2J4O;2POM;2POP;2YDS;2YIY;4AY5;4AY6;4GS6;4KA3;4L3P;4L52;4L53;4O91;5DIY;5E7R;5GJD;5GJF;5GJG;5J7S;5J8I;5J9L;5JGA;5JGB;5JGD;5JH6;5JK3;5NZZ;5O90;5V5N;5VVU;

name:
TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 (Mitogen-activated protein kinase kinase kinase 7-interacting protein 1) (TGF-beta-activated kinase 1-binding protein 1) (TAK1-binding protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; endosome membrane [GO:0010008]; nuclear speck [GO:0016607]; protein-containing complex [GO:0032991]; enzyme activator activity [GO:0008047]; kinase activator activity [GO:0019209]; mitogen-activated protein kinase p38 binding [GO:0048273]; protein serine/threonine phosphatase activity [GO:0004722]; protein-containing complex binding [GO:0044877]; activation of MAPK activity [GO:0000187]; activation of MAPKKK activity [GO:0000185]; aorta development [GO:0035904]; cardiac septum development [GO:0003279]; coronary vasculature development [GO:0060976]; Fc-epsilon receptor signaling pathway [GO:0038095]; heart morphogenesis [GO:0003007]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; in utero embryonic development [GO:0001701]; interleukin-1-mediated signaling pathway [GO:0070498]; JNK cascade [GO:0007254]; lung development [GO:0030324]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein deubiquitination [GO:0016579]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=TAB1alpha; IsoId=Q15750-1; Sequence=Displayed; Name=2; Synonyms=TAB1beta; IsoId=Q15750-2; Sequence=VSP_042024; Note=Does not bind nor activate MAP3K7/TAK1.; 


uniprotID: Q8IXH6
geneSymbol: TP53INP2
length: 220
go: ENSG00000078804;
name:
Tumor protein p53-inducible nuclear protein 2 (Diabetes and obesity-regulated gene) (p53-inducible protein U) (PIG-U)

sequence:

opentargets:
autophagosome [GO:0005776]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; nucleus [GO:0005634]; PML body [GO:0016605]; ubiquitin binding [GO:0043130]; autophagosome assembly [GO:0000045]; negative regulation of cellular protein localization [GO:1903828]; osteoblast differentiation [GO:0001649]; positive regulation of autophagy [GO:0010508]; positive regulation of transcription, DNA-templated [GO:0045893]; tissue homeostasis [GO:0001894]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Nucleus. Nucleus, PML body. Cytoplasmic vesicle, autophagosome. Note=Shuttles between the nucleus and the cytoplasm, depending on cellular stress conditions, and re-localizes to autophagosomes on autophagy activation.


uniprotID: Q86V81
geneSymbol: ALYREF
reactome: R-HSA-109688;R-HSA-159227;R-HSA-159230;R-HSA-159231;R-HSA-159236;R-HSA-72163;R-HSA-72187;
pdb: 3ULH;
length: 257
name:
THO complex subunit 4 (Tho4) (Ally of AML-1 and LEF-1) (Aly/REF export factor) (Transcriptional coactivator Aly/REF) (bZIP-enhancing factor BEF)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; transcription export complex [GO:0000346]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; osteoblast differentiation [GO:0001649]; positive regulation of DNA-templated transcription, elongation [GO:0032786]; regulation of DNA recombination [GO:0000018]; replication fork processing [GO:0031297]; RNA export from nucleus [GO:0006405]; viral mRNA export from host cell nucleus [GO:0046784]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10488337, ECO:0000269|PubMed:19324961, ECO:0000269|PubMed:23826332, ECO:0000305|PubMed:18974867}. Nucleus speckle {ECO:0000269|PubMed:19324961, ECO:0000269|PubMed:23826332}. Cytoplasm {ECO:0000269|PubMed:19324961}. Note=Colocalizes with the core EJC, ALYREF/THOC4, NXF1 and DDX39B in the nucleus and nuclear speckles. Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA (PubMed:19324961). Localizes to regions surrounding nuclear speckles known as perispeckles in which TREX complex assembly seems to occur (PubMed:23826332). {ECO:0000269|PubMed:19324961, ECO:0000269|PubMed:23826332}.


uniprotID: Q9Y6A5
geneSymbol: TACC3
reactome: R-HSA-9013507;R-HSA-9604323;
pdb: 5LXN;5LXO;5ODS;5ODT;
name: Transforming acidic coiled-coil-containing protein 3 (ERIC-1)
length: 838
go: ENSG00000013810;
snps: rs34205238 rs17132047 rs1063743 rs17680881
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; mitotic spindle [GO:0072686]; spindle pole [GO:0000922]; cell division [GO:0051301]; cell proliferation [GO:0008283]; cerebral cortex development [GO:0021987]; metaphase/anaphase transition of mitotic cell cycle [GO:0007091]; microtubule cytoskeleton organization [GO:0000226]; microtubule cytoskeleton organization involved in mitosis [GO:1902850]; regulation of mitotic spindle organization [GO:0060236]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17545617}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:17545617, ECO:0000269|PubMed:21297582, ECO:0000269|PubMed:23918938}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000250|UniProtKB:Q9PTG8}. Note=In complex with CKAP5 localized to microtubule plus-ends in mitosis and interphase. In complex with CKAP5 and clathrin localized to inter-microtubule bridges in mitotic spindles. {ECO:0000269|PubMed:25596274}.


uniprotID: Q96RJ0
geneSymbol: TAAR1
reactome: R-HSA-375280;R-HSA-418555;
name: Trace amine-associated receptor 1 (TaR-1) (Trace amine receptor 1)
length: 339
go: ENSG00000146399;
drug: DB00182;DB01576;DB01577;DB06714;
snps: rs8192618 rs6926857
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; trace-amine receptor activity [GO:0001594]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q9P1P5
geneSymbol: TAAR2
reactome: R-HSA-375280;R-HSA-418555;
name: Trace amine-associated receptor 2 (TaR-2) (Trace amine receptor 2) (G-protein coupled receptor 58)
length: 351
go: ENSG00000146378;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=Q9P1P5-1; Sequence=Displayed; Name=2; Synonyms=Small; IsoId=Q9P1P5-2; Sequence=VSP_016301; 


uniprotID: Q92750
geneSymbol: TAF4B
length: 862
go: ENSG00000141384;
snps: rs16942219 rs12963653
name:
Transcription initiation factor TFIID subunit 4B (Transcription initiation factor TFIID 105 kDa subunit) (TAF(II)105) (TAFII-105) (TAFII105)

sequence:

opentargets:
cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; transcription factor TFIID complex [GO:0005669]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; NF-kappaB binding [GO:0051059]; protein heterodimerization activity [GO:0046982]; transcription factor binding [GO:0008134]; oogenesis [GO:0048477]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of signal transduction by p53 class mediator [GO:1901796]; RNA polymerase II preinitiation complex assembly [GO:0051123]; spermatogenesis [GO:0007283]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92750-1; Sequence=Displayed; Name=2; Synonyms=TAFII105-E9; IsoId=Q92750-2; Sequence=VSP_022025, VSP_022026; Note=May be due to exon inclusion. No experimental confirmation available. Unphosphorylated form.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11567023, ECO:0000269|PubMed:16088961}. Cytoplasm {ECO:0000269|PubMed:11567023, ECO:0000269|PubMed:16088961}. Note=Export into the cytoplasm is mediated by a CRM1-independent nuclear export pathway and not by phosphorylation. {ECO:0000269|PubMed:11567023}.


uniprotID: Q92748
geneSymbol: THRSP
reactome: R-HSA-200425;
name: Thyroid hormone-inducible hepatic protein (Spot 14 protein) (S14) (SPOT14)
length: 146
go: ENSG00000151365;
sequence:
MQVLTKRYPKNCLLTVMDRYAAEVHNMEQVVMIPSLLRDVQLSGPGGQAQAEAPDLYTYFTMLKAICVDVDHGLLPREEWQAKVAGSEENGTAETEEVEDESASGELDLEAQFHLHFSSLHHILMHLTEKAQEVTRKYQEMTGQVW

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; carnitine shuttle [GO:0006853]; lipid metabolic process [GO:0006629]; regulation of lipid biosynthetic process [GO:0046890]; regulation of triglyceride biosynthetic process [GO:0010866]; response to bacterium [GO:0009617]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18299245}. Cytoplasm {ECO:0000269|PubMed:18299245}.


uniprotID: Q9UPZ6
geneSymbol: THSD7A
reactome: R-HSA-5083635;R-HSA-5173214;
length: 1657
go: ENSG00000005108;
snps: rs2074599 rs47 rs2285744 rs1432 rs56264449
name:
Thrombospondin type-1 domain-containing protein 7A [Cleaved into: Thrombospondin type-1 domain-containing protein 7A, soluble form]

sequence:

opentargets:
cell projection [GO:0042995]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]

location:
SUBCELLULAR LOCATION: Thrombospondin type-1 domain-containing protein 7A: Cell membrane {ECO:0000269|PubMed:22194972, ECO:0000269|PubMed:25394321, ECO:0000269|PubMed:27214550}; Single-pass type I membrane protein {ECO:0000269|PubMed:22194972}. Cell projection {ECO:0000250|UniProtKB:Q69ZU6}. Note=Detected on podocyte foot processes. {ECO:0000250|UniProtKB:Q69ZU6}.; SUBCELLULAR LOCATION: Thrombospondin type-1 domain-containing protein 7A, soluble form: Secreted {ECO:0000269|PubMed:22194972}. Note=Proteolytic cleavage in the extracellular region generates a 210 kDa soluble form. {ECO:0000269|PubMed:22194972}.


uniprotID: Q16559
geneSymbol: TAL2
length: 108
go: ENSG00000186051;
name:
T-cell acute lymphocytic leukemia protein 2 (TAL-2) (Class A basic helix-loop-helix protein 19) (bHLHa19)

sequence:
MTRKIFTNTRERWRQQNVNSAFAKLRKLIPTHPPDKKLSKNETLRLAMRYINFLVKVLGEQSLQQTGVAAQGNILGLFPQGPHLPGLEDRTLLENYQVPSPGPSHHIP

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; midbrain development [GO:0030901]; multicellular organism growth [GO:0035264]; post-embryonic development [GO:0009791]; regulation of transcription by RNA polymerase II [GO:0006357]; thalamus development [GO:0021794]


uniprotID: O75529
geneSymbol: TAF5L
reactome: R-HSA-3214847;
length: 589
go: ENSG00000135801;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11564863, ECO:0000269|PubMed:9674425}.
name:
TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L (PCAF-associated factor 65 beta) (PAF65-beta)

sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; STAGA complex [GO:0030914]; transcription factor TFTC complex [GO:0033276]; DNA-binding transcription factor activity [GO:0003700]; transcription coactivator activity [GO:0003713]; histone H3 acetylation [GO:0043966]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75529-1; Sequence=Displayed; Name=2; IsoId=O75529-2; Sequence=VSP_010156, VSP_010157; Note=May be due to an intron retention. No experimental confirmation available.; 


uniprotID: Q15542
geneSymbol: TAF5
pdb: 2NXP;
length: 800
go: ENSG00000148835;
snps: rs10883859
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-674695;R-HSA-6804756;R-HSA-6807505;R-HSA-73776;R-HSA-73779;R-HSA-75953;R-HSA-76042;

name:
Transcription initiation factor TFIID subunit 5 (Transcription initiation factor TFIID 100 kDa subunit) (TAF(II)100) (TAFII-100) (TAFII100)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor TFIID complex [GO:0005669]; transcription factor TFTC complex [GO:0033276]; DNA-binding transcription factor activity [GO:0003700]; identical protein binding [GO:0042802]; protein dimerization activity [GO:0046983]; transcription regulatory region DNA binding [GO:0044212]; chromatin organization [GO:0006325]; DNA-templated transcription, initiation [GO:0006352]; histone acetylation [GO:0016573]; regulation of signal transduction by p53 class mediator [GO:1901796]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q15542-1; Sequence=Displayed; Name=Short; IsoId=Q15542-2; Sequence=VSP_006787; 


uniprotID: Q9NY65
geneSymbol: TUBA8
name: Tubulin alpha-8 chain (Alpha-tubulin 8) (Tubulin alpha chain-like 2)
length: 449
go: ENSG00000183785;
drug: DB03010;DB01873;
snps: rs2234331 rs2234333
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
reactome:
R-HSA-1445148;R-HSA-190840;R-HSA-190861;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-3371497;R-HSA-380320;R-HSA-389960;R-HSA-389977;R-HSA-437239;R-HSA-5617833;R-HSA-5626467;R-HSA-5663220;R-HSA-6807878;R-HSA-6811434;R-HSA-6811436;R-HSA-68877;R-HSA-8852276;R-HSA-8955332;R-HSA-983189;

sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; structural constituent of cytoskeleton [GO:0005200]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NY65-1; Sequence=Displayed; Name=2; IsoId=Q9NY65-2; Sequence=VSP_042810; 


uniprotID: Q96S79
geneSymbol: RASL10B
name: Ras-like protein family member 10B (Ras-like protein VTS58635) (Ras-related protein 17) (RRP17)
length: 203
go: ENSG00000270885;
snps: rs781851443
sequence:

opentargets:
plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; positive regulation of peptide hormone secretion [GO:0090277]; regulation of systemic arterial blood pressure by atrial natriuretic peptide [GO:0003050]; signal transduction [GO:0007165]


uniprotID: Q6PCB5
geneSymbol: RSBN1L
name: Round spermatid basic protein 1-like protein
length: 846
go: ENSG00000187257;
opentargets: nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PCB5-1; Sequence=Displayed; Name=2; IsoId=Q6PCB5-2; Sequence=VSP_027658; 


uniprotID: Q8WWV3
geneSymbol: RTN4IP1
pdb: 2VN8;
name: Reticulon-4-interacting protein 1, mitochondrial (NOGO-interacting mitochondrial protein)
length: 396
go: ENSG00000130347;
snps: rs372054380
sequence:

opentargets:
mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; oxidoreductase activity [GO:0016491]; zinc ion binding [GO:0008270]; regulation of dendrite development [GO:0050773]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WWV3-1; Sequence=Displayed; Name=2; IsoId=Q8WWV3-2; Sequence=VSP_015742; Note=No experimental confirmation available.; Name=3; Synonyms=Short; IsoId=Q8WWV3-3; Sequence=VSP_015743, VSP_015744; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:12067236, ECO:0000269|PubMed:26593267}. Note=Colocalizes with the endoplasmic reticulum HSPA5 at spots corresponding to contacts with mitochondria. {ECO:0000269|PubMed:26593267}.


uniprotID: Q5HYW3
geneSymbol: RTL5
name: Retrotransposon Gag-like protein 5 (Retrotransposon gag domain-containing protein 4)
length: 569
go: ENSG00000242732;
snps: rs6624595
sequence:


uniprotID: Q17RB0
geneSymbol: RTL8B
name: Retrotransposon Gag-like protein 8B (Mammalian retrotransposon derived protein 8B)
length: 113
go: ENSG00000212747;
sequence:
MEGRVQLMKALLARPLRPAARRWRNPIPFPETFDGDTDRLPEFIVQTSSYMFVDENTFSNDALKVTFLITRLTGPALQWVIPYIKKESPLLSDYRGFLAEMKRVFGWEEDEDF


uniprotID: Q8NET4
geneSymbol: RTL9
length: 1388
go: ENSG00000243978;
snps: rs35495390
name:
Retrotransposon Gag-like protein 9 (Retrotransposon gag domain-containing protein 1) (Tumor antigen BJ-HCC-23)

sequence:


uniprotID: Q14D33
geneSymbol: RTP5
reactome: R-HSA-381753;
length: 572
go: ENSG00000188011;
snps: rs7420371
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Receptor-transporting protein 5 (3CxxC-type zinc finger protein 5) (CXXC-type zinc finger protein 11)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; olfactory receptor binding [GO:0031849]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; protein insertion into membrane [GO:0051205]; protein targeting to membrane [GO:0006612]


uniprotID: P09234
geneSymbol: SNRPC
reactome: R-HSA-72163;
pdb: 2VRD;3CW1;4PJO;
name: U1 small nuclear ribonucleoprotein C (U1 snRNP C) (U1-C) (U1C)
length: 159
go: ENSG00000124562;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03153, ECO:0000269|PubMed:2136774}.
sequence:
MPKFYCDYCDTYLTHDSPSVRKTHCSGRKHKENVKDYYQKWMEEQAQSLIDKTTAAFQQGKIPPTPFSAPPPAGAMIPPPPSLPGPPRPGMMPAPHMGGPPMMPMMGPPPPGMMPVGPAPGMRPPMGGHMPMMPGPPMMRPPARPMMVPTRPGMTRPDR

opentargets:
Cajal body [GO:0015030]; commitment complex [GO:0000243]; nucleoplasm [GO:0005654]; U1 snRNP [GO:0005685]; U2-type prespliceosome [GO:0071004]; mRNA binding [GO:0003729]; pre-mRNA 5'-splice site binding [GO:0030627]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; single-stranded RNA binding [GO:0003727]; U1 snRNP binding [GO:1990446]; zinc ion binding [GO:0008270]; mRNA 5'-splice site recognition [GO:0000395]; mRNA splicing, via spliceosome [GO:0000398]; spliceosomal snRNP assembly [GO:0000387]


uniprotID: P09661
geneSymbol: SNRPA1
reactome: R-HSA-72163;R-HSA-8950505;
pdb: 1A9N;5MQF;5O9Z;5XJC;5YZG;5Z56;5Z57;5Z58;
name: U2 small nuclear ribonucleoprotein A' (U2 snRNP A')
length: 255
go: ENSG00000131876;
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small nuclear ribonucleoprotein complex [GO:0030532]; spliceosomal complex [GO:0005681]; U2 snRNP [GO:0005686]; U2-type catalytic step 2 spliceosome [GO:0071007]; U2-type precatalytic spliceosome [GO:0071005]; RNA binding [GO:0003723]; U2 snRNA binding [GO:0030620]; interleukin-12-mediated signaling pathway [GO:0035722]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166}.


uniprotID: Q59EK9
geneSymbol: RUNDC3A
name: RUN domain-containing protein 3A (Rap2-interacting protein 8) (RPIP-8)
length: 446
go: ENSG00000108309;
sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; GTPase regulator activity [GO:0030695]; positive regulation of cGMP-mediated signaling [GO:0010753]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q59EK9-1; Sequence=Displayed; Name=2; IsoId=Q59EK9-2; Sequence=VSP_032153, VSP_032155, VSP_032156; Name=3; IsoId=Q59EK9-3; Sequence=VSP_032155, VSP_032156; Name=4; IsoId=Q59EK9-4; Sequence=VSP_032154; 


uniprotID: Q9UJJ7
geneSymbol: RPUSD1
pdb: 5VBB;
length: 312
go: ENSG00000007376;
snps: rs2272898 rs3751672
name:
RNA pseudouridylate synthase domain-containing protein 1 (Ribosomal large subunit pseudouridine synthase C-like protein)

sequence:

opentargets:
pseudouridine synthase activity [GO:0009982]; RNA binding [GO:0003723]; pseudouridine synthesis [GO:0001522]


uniprotID: Q96GQ5
geneSymbol: C16orf58
name: RUS1 family protein C16orf58
length: 468
go: ENSG00000140688;
opentargets: integral component of membrane [GO:0016021]; membrane [GO:0016020]
snps: rs17855405
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96GQ5-1; Sequence=Displayed; Name=2; IsoId=Q96GQ5-2; Sequence=VSP_024255, VSP_024256; 


uniprotID: Q5JPH6
geneSymbol: EARS2
reactome: R-HSA-379726;
name: Probable glutamate--tRNA ligase, mitochondrial (EC 6.1.1.17) (Glutamyl-tRNA synthetase) (GluRS)
length: 523
go: ENSG00000103356;
drug: DB00142;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; glutamate-tRNA ligase activity [GO:0004818]; glutamate-tRNA(Gln) ligase activity [GO:0050561]; tRNA binding [GO:0000049]; zinc ion binding [GO:0008270]; glutamyl-tRNA aminoacylation [GO:0006424]; tRNA aminoacylation for mitochondrial protein translation [GO:0070127]

snps:
rs770862902 rs397514595 rs397514593 rs1355685453 rs1021330566 rs376103091 rs201842633 rs397514594 rs397514591 rs397514592 rs141129877 rs746838793 rs6497671 rs757965573 rs201727231 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JPH6-1; Sequence=Displayed; Name=2; IsoId=Q5JPH6-2; Sequence=VSP_057203; Note=No experimental confirmation available.; 


uniprotID: P07814
geneSymbol: EPRS
reactome: R-HSA-2408517;R-HSA-379716;R-HSA-6782315;
pdb: 1FYJ;4HVC;4K86;4K87;4K88;5A1N;5A34;5A5H;5BMU;5V58;5VAD;5Y6L;
length: 1512
go: ENSG00000136628;
drug: DB03376;DB02510;DB02684;DB00142;DB00172;
snps: rs35999099 rs2230301 rs1063236 rs5030751 rs2230302 rs5030752 rs12144752 rs34559775
name:
Bifunctional glutamate/proline--tRNA ligase (Bifunctional aminoacyl-tRNA synthetase) (Cell proliferation-inducing gene 32 protein) (Glutamatyl-prolyl-tRNA synthetase) [Includes: Glutamate--tRNA ligase (EC 6.1.1.17) (Glutamyl-tRNA synthetase) (GluRS); Proline--tRNA ligase (EC 6.1.1.15) (Prolyl-tRNA synthetase)]

sequence:

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; GAIT complex [GO:0097452]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ribonucleoprotein complex [GO:1990904]; ATP binding [GO:0005524]; glutamate-tRNA ligase activity [GO:0004818]; GTPase binding [GO:0051020]; identical protein binding [GO:0042802]; proline-tRNA ligase activity [GO:0004827]; protein homodimerization activity [GO:0042803]; RNA stem-loop binding [GO:0035613]; zinc ion binding [GO:0008270]; cellular response to insulin stimulus [GO:0032869]; cellular response to interferon-gamma [GO:0071346]; glutamyl-tRNA aminoacylation [GO:0006424]; long-chain fatty acid import [GO:0044539]; negative regulation of translation [GO:0017148]; prolyl-tRNA aminoacylation [GO:0006433]; protein-containing complex assembly [GO:0065003]; tRNA aminoacylation for protein translation [GO:0006418]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}. Membrane {ECO:0000269|PubMed:28178239}; Peripheral membrane protein {ECO:0000305|PubMed:19289464, ECO:0000305|PubMed:28178239}. Note=Translocates from cytosol to membranes upon phosphorylation at Ser-999. {ECO:0000269|PubMed:19289464, ECO:0000269|PubMed:28178239}.


uniprotID: Q9HCS7
geneSymbol: XAB2
reactome: R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-72163;
pdb: 5MQF;5XJC;5YZG;5Z56;5Z57;
name: Pre-mRNA-splicing factor SYF1 (Protein HCNP) (XPA-binding protein 2)
length: 855
go: ENSG00000076924;
snps: rs4134822 rs4134850 rs4134865
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; post-mRNA release spliceosomal complex [GO:0071014]; Prp19 complex [GO:0000974]; U2-type catalytic step 2 spliceosome [GO:0071007]; blastocyst development [GO:0001824]; cerebral cortex development [GO:0021987]; generation of catalytic spliceosome for first transesterification step [GO:0000349]; mRNA splicing, via spliceosome [GO:0000398]; transcription, DNA-templated [GO:0006351]; transcription-coupled nucleotide-excision repair [GO:0006283]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:25599396, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}. Note=Detected in the splicing complex carrying pre-mRNA. {ECO:0000250|UniProtKB:Q99PK0}.


uniprotID: O95926
geneSymbol: SYF2
reactome: R-HSA-72163;
pdb: 5MQF;5XJC;5YZG;
name: Pre-mRNA-splicing factor SYF2 (CCNDBP1-interactor) (p29)
length: 243
go: ENSG00000117614;
snps: rs35324907
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; post-mRNA release spliceosomal complex [GO:0071014]; Prp19 complex [GO:0000974]; U2-type catalytic step 2 spliceosome [GO:0071007]; RNA binding [GO:0003723]; embryonic organ development [GO:0048568]; gastrulation [GO:0007369]; in utero embryonic development [GO:0001701]; mitotic G2 DNA damage checkpoint [GO:0007095]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of cell proliferation [GO:0008284]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95926-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=O95926-2; Sequence=VSP_054802; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11118353, ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}.


uniprotID: A8MWD9
geneSymbol: SNRPGP15
name: Putative small nuclear ribonucleoprotein G-like protein 15
sequence: MSKAHPPELKKFTDKKFSLKLNGGRHVQGILRGFDPFMNLVIDECVEMATSGQQKNIGMVEIRGNSIIMLEALERV
length: 76
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
opentargets:
catalytic step 2 spliceosome [GO:0071013]; P granule [GO:0043186]; SMN-Sm protein complex [GO:0034719]; U1 snRNP [GO:0005685]; U12-type spliceosomal complex [GO:0005689]; U2 snRNP [GO:0005686]; U2-type prespliceosome [GO:0071004]; U4 snRNP [GO:0005687]; U5 snRNP [GO:0005682]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; spliceosomal snRNP assembly [GO:0000387]


uniprotID: Q9UIY3
geneSymbol: RWDD2A
pdb: 2DAW;
name: RWD domain-containing protein 2A
length: 292
go: ENSG00000013392;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UIY3-1; Sequence=Displayed; Name=2; IsoId=Q9UIY3-2; Sequence=VSP_055504; Note=No experimental confirmation available.; 


uniprotID: Q99584
geneSymbol: S100A13
pdb: 1YUR;1YUS;1YUT;1YUU;2EGD;2H2K;2K8M;2KI4;2KI6;2KOT;2L5X;2LE9;
name: Protein S100-A13 (S100 calcium-binding protein A13)
sequence: MAAEPLTELEESIETVVTTFFTFARQEGRKDSLSVNEFKELVTQQLPHLLKDVGSLDEKMKSLDVNQDSELKFNEYWRLIGELAKEIRKKKDLKIRKK
length: 98
go: ENSG00000189171;
drug: DB01025;DB00768;
opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; mast cell granule [GO:0042629]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; copper ion binding [GO:0005507]; fibroblast growth factor binding [GO:0017134]; lipid binding [GO:0008289]; protein homodimerization activity [GO:0042803]; RAGE receptor binding [GO:0050786]; zinc ion binding [GO:0008270]; cytokine secretion [GO:0050663]; interleukin-1 alpha secretion [GO:0050703]; mast cell degranulation [GO:0043303]; positive regulation of cell proliferation [GO:0008284]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; regulation of cell shape [GO:0008360]; response to copper ion [GO:0046688]; response to electrical stimulus [GO:0051602]

location:
SUBCELLULAR LOCATION: Cytoplasm. Secreted. Note=Secretion is mediated by exposure to stress and requires copper ions.


uniprotID: Q9Y666
geneSymbol: SLC12A7
reactome: R-HSA-426117;
length: 1083
go: ENSG00000113504;
drug: DB00761;
snps: rs4526148
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Solute carrier family 12 member 7 (Electroneutral potassium-chloride cotransporter 4) (K-Cl cotransporter 4)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; potassium:chloride symporter activity [GO:0015379]; protein kinase binding [GO:0019901]; cell volume homeostasis [GO:0006884]; chemical synaptic transmission [GO:0007268]; chloride ion homeostasis [GO:0055064]; chloride transmembrane transport [GO:1902476]; ion transport [GO:0006811]; potassium ion homeostasis [GO:0055075]; potassium ion import [GO:0010107]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y666-1; Sequence=Displayed; Name=2; IsoId=Q9Y666-2; Sequence=VSP_006119, VSP_006120; Note=No experimental confirmation available.; 


uniprotID: Q9UH99
geneSymbol: SUN2
reactome: R-HSA-1221632;
pdb: 3UNP;4DXR;4DXS;4DXT;4FI9;
length: 717
go: ENSG00000100242;
snps: rs2072799 rs35496634 rs138708 rs2072797
name:
SUN domain-containing protein 2 (Protein unc-84 homolog B) (Rab5-interacting protein) (Rab5IP) (Sad1/unc-84 protein-like 2)

sequence:

opentargets:
condensed nuclear chromosome [GO:0000794]; endosome membrane [GO:0010008]; integral component of nuclear inner membrane [GO:0005639]; meiotic nuclear membrane microtubule tethering complex [GO:0034993]; nuclear chromosome, telomeric region [GO:0000784]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; identical protein binding [GO:0042802]; lamin binding [GO:0005521]; microtubule binding [GO:0008017]; protein membrane anchor [GO:0043495]; centrosome localization [GO:0051642]; cytoskeletal anchoring at nuclear membrane [GO:0090286]; meiotic cell cycle [GO:0051321]; mitotic spindle organization [GO:0007052]; nuclear envelope organization [GO:0006998]; nuclear matrix anchoring at nuclear membrane [GO:0090292]; nuclear migration [GO:0007097]; nuclear migration along microfilament [GO:0031022]; nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration [GO:0021817]; positive regulation of cell migration [GO:0030335]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UH99-1; Sequence=Displayed; Name=2; IsoId=Q9UH99-2; Sequence=VSP_045882; Note=No experimental confirmation available.; Name=3; IsoId=Q9UH99-3; Sequence=VSP_053702; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000269|PubMed:15082709}; Single-pass type II membrane protein {ECO:0000269|PubMed:15082709}. Nucleus envelope {ECO:0000269|PubMed:15082709, ECO:0000269|PubMed:17132086, ECO:0000269|PubMed:17724119}. Endosome membrane {ECO:0000269|PubMed:10818110}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q8N434
geneSymbol: SVOPL
name: Putative transporter SVOPL (SV2-related protein-like) (SVOP-like protein)
length: 492
go: ENSG00000157703;
opentargets: integral component of membrane [GO:0016021]; transmembrane transporter activity [GO:0022857]
snps: rs2305816
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=Q8N434-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8N434-2; Sequence=VSP_026651, VSP_026652; Note=No experimental confirmation available.; 


uniprotID: Q9UK61
geneSymbol: FAM208A
length: 1670
go: ENSG00000163946;
opentargets: chromosome [GO:0005694]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]
snps: rs958755 rs17056999 rs2291498 rs9835332 rs2291498
name:
Protein TASOR (CTCL tumor antigen se89-1) (Retinoblastoma-associated protein RAP140) (Transgene activation suppressor protein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UK61-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on partial mRNA data. {ECO:0000305}; Name=2; IsoId=Q9UK61-2; Sequence=VSP_027030, VSP_027032; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q9UK61-3; Sequence=VSP_027033, VSP_027034; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q9UK61-4; Sequence=VSP_027031; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26022416}. Chromosome {ECO:0000269|PubMed:26022416}. Note=Localizes to chromatin. {ECO:0000269|PubMed:26022416}.


uniprotID: P10828
geneSymbol: THRB
reactome: R-HSA-383280;R-HSA-4090294;
pdb: 1BSX;1N46;1NAX;1NQ0;1NQ1;1NQ2;1NUO;1Q4X;1R6G;1XZX;1Y0X;2J4A;2NLL;2PIN;3D57;3GWS;3IMY;3JZC;4ZO1;
length: 461
go: ENSG00000151090;
drug: DB08085;DB00509;DB03788;DB05035;DB00451;DB00279;DB01583;DB05192;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Thyroid hormone receptor beta (Nuclear receptor subfamily 1 group A member 2) (c-erbA-2) (c-erbA-beta)

sequence:

opentargets:
nuclear body [GO:0016604]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; nuclear receptor transcription coactivator activity [GO:0030374]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; thyroid hormone binding [GO:0070324]; thyroid hormone receptor activity [GO:0004887]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; animal organ morphogenesis [GO:0009887]; cell differentiation [GO:0030154]; female courtship behavior [GO:0008050]; hormone-mediated signaling pathway [GO:0009755]; multicellular organism development [GO:0007275]; negative regulation of eye photoreceptor cell development [GO:0042480]; negative regulation of female receptivity [GO:0007621]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of heart contraction [GO:0008016]; response to lipid [GO:0033993]; retinal cone cell apoptotic process [GO:0097474]; retinal cone cell development [GO:0046549]; sensory perception of sound [GO:0007605]; thyroid gland development [GO:0030878]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription, DNA-templated [GO:0006351]; type I pneumocyte differentiation [GO:0060509]

snps:
rs9865746 rs121918694 rs121918707 rs121918695 rs121918690 rs121918696 rs121918693 rs28999969 rs1054624 rs121918697 rs121918688 rs121918686 rs121918686 rs28999970 rs28999971 rs121918698 rs121918691 rs121918692 rs121918703 rs121918687 rs28933408 rs121918702 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Beta-1; IsoId=P10828-1; Sequence=Displayed; Name=Beta-2; IsoId=P10828-2, P37243-1; Sequence=VSP_031077; 


uniprotID: P0DJG4
geneSymbol: THEGL
name: Testicular haploid expressed gene protein-like (Theg spermatid-like protein)
length: 465
go: ENSG00000249693;
sequence:


uniprotID: P54136
geneSymbol: RARS
reactome: R-HSA-2408517;R-HSA-379716;
pdb: 4Q2T;4Q2X;4Q2Y;4R3Z;4ZAJ;
name: Arginine--tRNA ligase, cytoplasmic (EC 6.1.1.19) (Arginyl-tRNA synthetase) (ArgRS)
length: 660
go: ENSG00000113643;
snps: rs672601372 rs244903 rs1059443 rs2305734 rs369398935
sequence:

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; arginine binding [GO:0034618]; arginine-tRNA ligase activity [GO:0004814]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; tRNA binding [GO:0000049]; arginyl-tRNA aminoacylation [GO:0006420]; tRNA aminoacylation for protein translation [GO:0006418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=Complexed; IsoId=P54136-1; Sequence=Displayed; Name=Monomeric; IsoId=P54136-2; Sequence=VSP_018905; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16055448, ECO:0000269|PubMed:16430231}. Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}.


uniprotID: Q9BWD1
geneSymbol: ACAT2
reactome: R-HSA-191273;
pdb: 1WL4;1WL5;
length: 397
go: ENSG00000120437;
drug: DB01992;DB01915;
snps: rs25683
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Acetyl-CoA acetyltransferase, cytosolic (EC 2.3.1.9) (Acetyl-CoA transferase-like protein) (Cytosolic acetoacetyl-CoA thiolase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; 3-hydroxyacyl-CoA dehydrogenase activity [GO:0003857]; acetyl-CoA C-acetyltransferase activity [GO:0003985]; acetyl-CoA C-acyltransferase activity [GO:0003988]; enoyl-CoA hydratase activity [GO:0004300]; cholesterol biosynthetic process [GO:0006695]; ergosterol biosynthetic process [GO:0006696]; fatty acid beta-oxidation [GO:0006635]; lipid metabolic process [GO:0006629]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BWD1-1; Sequence=Displayed; Name=2; IsoId=Q9BWD1-2; Sequence=VSP_056217; Note=No experimental confirmation available.; 


uniprotID: P82914
geneSymbol: MRPS15
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 257
go: ENSG00000116898;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S15, mitochondrial (MRP-S15) (S15mt) (Mitochondrial small ribosomal subunit protein uS15m)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial small ribosomal subunit [GO:0005763]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; mitochondrial translation [GO:0032543]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]


uniprotID: Q9Y3D5
geneSymbol: MRPS18C
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 142
go: ENSG00000163319;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S18c, mitochondrial (MRP-S18-c) (Mrps18-c) (S18mt-c) (28S ribosomal protein S18-1, mitochondrial) (MRP-S18-1) (Mitochondrial small ribosomal subunit protein bS18c) (Mitochondrial small ribosomal subunit protein bS18m)

sequence:
MAAVVAVCGGLGRKKLTHLVTAAVSLTHPGTHTVLWRRGCSQQVSSNEDLPISMENPYKEPLKKCILCGKHVDYKNVQLLSQFVSPFTGCIYGRHITGLCGKKQKEITKAIKRAQIMGFMPVTYKDPAYLKDPKVCNIRYRE

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial small ribosomal subunit [GO:0005763]; small ribosomal subunit rRNA binding [GO:0070181]; structural constituent of ribosome [GO:0003735]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]


uniprotID: Q9NVS2
geneSymbol: MRPS18A
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 196
go: ENSG00000096080;
name:
39S ribosomal protein S18a, mitochondrial (MRP-S18-a) (Mrps18a) (S18mt-a) (39S ribosomal protein S18-3, mitochondrial) (MRP-S18-3) (Mitochondrial large ribosomal subunit protein bS18a) (Mitochondrial large ribosomal subunit protein mL66)

sequence:
MAALKALVSGCGRLLRGLLAGPAATSWSRLPARGFREVVETQEGKTTIIEGRITATPKESPNPPNPSGQCPICRWNLKHKYNYDDVLLLSQFIRPHGGMLPRKITGLCQEEHRKIEECVKMAHRAGLLPNHRPRLPEGVVPKSKPQLNRYLTRWAPGSVKPIYKKGPRWNRVRMPVGSPLLRDNVCYSRTPWKLYH

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrial small ribosomal subunit [GO:0005763]; mitochondrion [GO:0005739]; small ribosomal subunit rRNA binding [GO:0070181]; structural constituent of ribosome [GO:0003735]; mitochondrial translation [GO:0032543]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NVS2-1; Sequence=Displayed; Name=2; IsoId=Q9NVS2-2; Sequence=VSP_041245; Name=3; IsoId=Q9NVS2-3; Sequence=VSP_043496; Note=No experimental confirmation available.; 


uniprotID: P82650
geneSymbol: MRPS22
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 360
go: ENSG00000175110;
snps: rs119478059
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S22, mitochondrial (MRP-S22) (S22mt) (Mitochondrial small ribosomal subunit protein mS22)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial ribosome [GO:0005761]; mitochondrial small ribosomal subunit [GO:0005763]; mitochondrion [GO:0005739]; structural constituent of ribosome [GO:0003735]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P82650-1; Sequence=Displayed; Name=2; IsoId=P82650-2; Sequence=VSP_056634, VSP_056635, VSP_056636; 


uniprotID: P82930
geneSymbol: MRPS34
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 218
go: ENSG00000074071;
snps: rs1131692037 rs11552431
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11279123}.
name:
28S ribosomal protein S34, mitochondrial (MRP-S34) (S34mt) (Mitochondrial small ribosomal subunit protein mS34)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial small ribosomal subunit [GO:0005763]; mitochondrion [GO:0005739]; structural constituent of ribosome [GO:0003735]; mitochondrial translation [GO:0032543]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]


uniprotID: Q92552
geneSymbol: MRPS27
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 414
go: ENSG00000113048;
snps: rs3209157
name:
28S ribosomal protein S27, mitochondrial (MRP-S27) (S27mt) (Mitochondrial ribosomal protein S27) (Mitochondrial small ribosomal subunit protein mS27)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial inner membrane [GO:0005743]; mitochondrial small ribosomal subunit [GO:0005763]; mitochondrion [GO:0005739]; mitochondrial ribosome binding [GO:0097177]; rRNA binding [GO:0019843]; tRNA binding [GO:0000049]; cell proliferation [GO:0008283]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; positive regulation of mitochondrial translation [GO:0070131]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92552-1; Sequence=Displayed; Name=2; IsoId=Q92552-2; Sequence=VSP_054882; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28714366}. Mitochondrion {ECO:0000269|PubMed:22841715, ECO:0000269|PubMed:25838379}.


uniprotID: Q9BQC6
geneSymbol: MRPL57
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J7Y;3J9M;5OOL;5OOM;
length: 102
go: ENSG00000173141;
name:
Ribosomal protein 63, mitochondrial (hMRP63) (Mitochondrial large ribosomal subunit protein mL63) (Mitochondrial ribosomal protein 63) (Mitochondrial ribosomal protein L57)

sequence:
MFLTALLWRGRIPGRQWIGKHRRPRFVSLRAKQNMIRRLEIEAENHYWLSMPYMTREQERGHAAVRRREAFEAIKAAATSKFPPHRFIADQLDHLNVTKKWS

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrial ribosome [GO:0005761]; mitochondrion [GO:0005739]; structural constituent of ribosome [GO:0003735]; mitochondrial translation [GO:0032543]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]


uniprotID: Q8N8U3
geneSymbol: RTL3
name: Retrotransposon Gag-like protein 3 (Zinc finger CCHC domain-containing protein 5)
length: 475
go: ENSG00000179300;
opentargets: nucleus [GO:0005634]; nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]
snps: rs4077512
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q6P1Y1}.
sequence:


uniprotID: Q6ZR62
geneSymbol: RTL4
length: 310
go: ENSG00000187823;
snps: rs6568050 rs7474140
name:
Retrotransposon Gag-like protein 4 (Mammalian retrotransposon-derived protein 4) (Zinc finger CCHC domain-containing protein 16)

sequence:

opentargets:
nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]; cognition [GO:0050890]; norepinephrine metabolic process [GO:0042415]


uniprotID: O00442
geneSymbol: RTCA
length: 366
go: ENSG00000137996;
location: SUBCELLULAR LOCATION: Nucleus, nucleoplasm.
name:
RNA 3'-terminal phosphate cyclase (RNA cyclase) (RNA-3'-phosphate cyclase) (EC 6.5.1.4) (RNA terminal phosphate cyclase domain-containing protein 1) (RTC domain-containing protein 1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; RNA-3'-phosphate cyclase activity [GO:0003963]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00442-1; Sequence=Displayed; Name=2; IsoId=O00442-2; Sequence=VSP_005915; Note=No experimental confirmation available.; 


uniprotID: Q16799
geneSymbol: RTN1
name: Reticulon-1 (Neuroendocrine-specific protein)
length: 776
go: ENSG00000139970;
snps: rs35645652 rs35707243
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; neuron differentiation [GO:0030182]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=RTN1-A; Synonyms=NSP-A; IsoId=Q16799-1; Sequence=Displayed; Name=RTN1-B; Synonyms=NSP-B; IsoId=Q16799-2; Sequence=VSP_005644; Name=RTN1-C; Synonyms=NSP-C; IsoId=Q16799-3; Sequence=VSP_005645, VSP_005646; 


uniprotID: Q86VV8
geneSymbol: RTTN
name: Rotatin
length: 2226
go: ENSG00000176225;
snps: rs201884120 rs3911730 rs17082206 rs318240757 rs285227 rs4891392
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; centriole replication [GO:0007099]; centriole-centriole cohesion [GO:0010457]; ciliary basal body organization [GO:0032053]; determination of left/right symmetry [GO:0007368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86VV8-1; Sequence=Displayed; Name=2; IsoId=Q86VV8-2; Sequence=VSP_029024, VSP_029025; Note=May be due to an intron retention. No experimental confirmation available.; Name=3; IsoId=Q86VV8-3; Sequence=VSP_029030, VSP_029031; Note=No experimental confirmation available.; Name=4; IsoId=Q86VV8-4; Sequence=VSP_029026, VSP_029027; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:22939636}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Note=Colocalizes with the basal bodies at the primary cilium.


uniprotID: Q96DX8
geneSymbol: RTP4
reactome: R-HSA-381753;
length: 246
go: ENSG00000136514;
snps: rs1047584 rs35224605
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type III membrane protein {ECO:0000305}.
name:
Receptor-transporting protein 4 (28 kDa interferon-responsive protein) (3CxxC-type zinc finger protein 4)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; olfactory receptor binding [GO:0031849]; defense response to virus [GO:0051607]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; protein insertion into membrane [GO:0051205]; protein targeting to membrane [GO:0006612]


uniprotID: Q96T51
geneSymbol: RUFY1
reactome: R-HSA-1660499;
pdb: 2YQM;2YW8;
length: 708
go: ENSG00000176783;
snps: rs6879322
location: SUBCELLULAR LOCATION: Cytoplasm. Early endosome membrane; Peripheral membrane protein.
name:
RUN and FYVE domain-containing protein 1 (FYVE-finger protein EIP1) (La-binding protein 1) (Rab4-interacting protein) (Zinc finger FYVE domain-containing protein 12)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; intracellular membrane-bounded organelle [GO:0043231]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; lipid binding [GO:0008289]; metal ion binding [GO:0046872]; protein transporter activity [GO:0008565]; SH2 domain binding [GO:0042169]; SH3 domain binding [GO:0017124]; endocytosis [GO:0006897]; phosphatidylinositol biosynthetic process [GO:0006661]; protein transport [GO:0015031]; regulation of endocytosis [GO:0030100]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=rabip4'; IsoId=Q96T51-1; Sequence=Displayed; Name=2; Synonyms=rabip4; IsoId=Q96T51-2; Sequence=VSP_019785; Name=3; IsoId=Q96T51-3; Sequence=VSP_019786, VSP_019787; Note=No experimental confirmation available.; 


uniprotID: Q92622
geneSymbol: RUBCN
length: 972
go: ENSG00000145016;
name:
Run domain Beclin-1-interacting and cysteine-rich domain-containing protein (Rubicon) (Beclin-1 associated RUN domain containing protein) (Baron)

sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; lysosome [GO:0005764]; nucleoplasm [GO:0005654]; autophagy [GO:0006914]; immune system process [GO:0002376]; multivesicular body sorting pathway [GO:0071985]; negative regulation of autophagosome maturation [GO:1901097]; negative regulation of autophagy [GO:0010507]; negative regulation of endocytosis [GO:0045806]; negative regulation of phosphatidylinositol 3-kinase activity [GO:0043553]; phagocytosis [GO:0006909]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92622-1; Sequence=Displayed; Name=2; IsoId=Q92622-2; Sequence=VSP_039160, VSP_039161; Name=3; IsoId=Q92622-3; Sequence=VSP_039471, VSP_039472, VSP_039473; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Late endosome {ECO:0000269|PubMed:19270696}. Lysosome {ECO:0000269|PubMed:19270696}. Early endosome {ECO:0000269|PubMed:19270696, ECO:0000269|PubMed:20974968}. Note=Predominantly located in late endosomes/lysosomes, only partially detected in early endosome and not at all in the Golgi apparatus.


uniprotID: Q96NL0
geneSymbol: RUNDC3B
name: RUN domain-containing protein 3B (Rap2-binding protein 9) (Rap2-interacting protein 9) (RPIP-9)
length: 473
go: ENSG00000105784;
snps: rs17852065 rs17852063 rs17856673
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96NL0-1; Sequence=Displayed; Name=2; IsoId=Q96NL0-2; Sequence=VSP_033804, VSP_033806, VSP_033807; Name=3; IsoId=Q96NL0-3; Sequence=VSP_033803, VSP_033807; Name=4; IsoId=Q96NL0-4; Sequence=VSP_033805, VSP_033807; Name=5; IsoId=Q96NL0-5; Sequence=VSP_033805; Note=No experimental confirmation available.; 


uniprotID: Q8WWU5
geneSymbol: TCP11
name: T-complex protein 11 homolog
length: 503
go: ENSG00000124678;
snps: rs2234045 rs2234051
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; integral component of membrane [GO:0016021]; sperm flagellum [GO:0036126]; sperm midpiece [GO:0097225]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; protein kinase A signaling [GO:0010737]; regulation of cAMP-mediated signaling [GO:0043949]; regulation of sperm capacitation [GO:1902490]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=TCP11b {ECO:0000303|PubMed:12545228}; IsoId=Q8WWU5-1; Sequence=Displayed; Name=2; Synonyms=TCP11a {ECO:0000303|PubMed:21597245}; IsoId=Q8WWU5-2; Sequence=VSP_032186; Name=3; Synonyms=TCP11c {ECO:0000303|PubMed:12905703}; IsoId=Q8WWU5-3; Sequence=VSP_032185; Name=4; IsoId=Q8WWU5-4; Sequence=VSP_045217; Name=5; IsoId=Q8WWU5-5; Sequence=VSP_047125, VSP_047126; Name=6; IsoId=Q8WWU5-6; Sequence=VSP_047124; Name=7; IsoId=Q8WWU5-7; Sequence=VSP_047125; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q01755}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q01755}. Note=Localizes on the acrosomal cap region of acrosome-intact, but not acrosome-reacted sperm. Colocalizes with MROH2B and PRKACA on the acrosome and tail regions in round spermatids and spermatozoa regardless of the capacitation status of the sperm. {ECO:0000250|UniProtKB:Q01755}.


uniprotID: Q5JR98
geneSymbol: TCTEX1D4
name: Tctex1 domain-containing protein 4 (Protein N22.1) (Tctex-2-beta)
length: 221
go: ENSG00000188396;
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; axoneme [GO:0005930]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; sperm flagellum [GO:0036126]; protein phosphatase 1 binding [GO:0008157]


uniprotID: A0A087X1G2
geneSymbol: TBC1D3K
name: TBC1 domain family member 3K
length: 549
sequence:

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8IZP1}; Lipid-anchor {ECO:0000250|UniProtKB:Q8IZP1}. Note=Associated with lipid rafts. {ECO:0000250|UniProtKB:Q8IZP1}.


uniprotID: P68363
geneSymbol: TUBA1B
pdb: 2E4H;5IJ0;5IJ9;5N5N;
length: 451
go: ENSG00000123416;
drug: DB05147;DB03010;DB01873;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
reactome:
R-HSA-1445148;R-HSA-190840;R-HSA-190861;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-3371497;R-HSA-380320;R-HSA-389960;R-HSA-389977;R-HSA-437239;R-HSA-5610787;R-HSA-5617833;R-HSA-5620924;R-HSA-5626467;R-HSA-5663220;R-HSA-6807878;R-HSA-6811434;R-HSA-6811436;R-HSA-68877;R-HSA-8852276;R-HSA-8955332;R-HSA-983189;

name:
Tubulin alpha-1B chain (Alpha-tubulin ubiquitous) (Tubulin K-alpha-1) (Tubulin alpha-ubiquitous chain) [Cleaved into: Detyrosinated tubulin alpha-1B chain]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; membrane raft [GO:0045121]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; myelin sheath [GO:0043209]; double-stranded RNA binding [GO:0003725]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; structural constituent of cytoskeleton [GO:0005200]; structural molecule activity [GO:0005198]; ubiquitin protein ligase binding [GO:0031625]; cell division [GO:0051301]; cellular response to interleukin-4 [GO:0071353]; cytoskeleton-dependent intracellular transport [GO:0030705]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P68363-1; Sequence=Displayed; Name=2; IsoId=P68363-2; Sequence=VSP_055764; Note=No experimental confirmation available.; 


uniprotID: Q86XR7
geneSymbol: TICAM2
pdb: 2M1W;
length: 235
go: ENSG00000243414;ENSG00000251201;
reactome:
R-HSA-140534;R-HSA-166016;R-HSA-166166;R-HSA-2562578;R-HSA-6798695;R-HSA-9014325;R-HSA-936964;R-HSA-937041;R-HSA-937072;R-HSA-975163;

name:
TIR domain-containing adapter molecule 2 (TICAM-2) (Putative NF-kappa-B-activating protein 502) (TRIF-related adapter molecule) (Toll-like receptor adaptor protein 3) (Toll/interleukin-1 receptor domain-containing protein) (MyD88-4)

sequence:

opentargets:
COPII-coated ER to Golgi transport vesicle [GO:0030134]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; apoptotic signaling pathway [GO:0097190]; cellular response to lipopolysaccharide [GO:0071222]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; intracellular protein transport [GO:0006886]; MyD88-independent toll-like receptor signaling pathway [GO:0002756]; necroptotic process [GO:0070266]; negative regulation of chemokine (C-C motif) ligand 5 production [GO:0071650]; negative regulation of MyD88-independent toll-like receptor signaling pathway [GO:0034128]; negative regulation of toll-like receptor 4 signaling pathway [GO:0034144]; neutrophil degranulation [GO:0043312]; positive regulation of chemokine (C-C motif) ligand 5 production [GO:0071651]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-18-mediated signaling pathway [GO:2000494]; positive regulation of toll-like receptor 4 signaling pathway [GO:0034145]; toll-like receptor 4 signaling pathway [GO:0034142]; TRAM-dependent toll-like receptor 4 signaling pathway [GO:0035669]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=TRAM; IsoId=Q86XR7-1; Sequence=Displayed; Name=2; Synonyms=TAG, TRAM adaptor with GOLD domain; IsoId=Q86XR7-2; Sequence=VSP_047437; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Golgi apparatus. Cell membrane. Endoplasmic reticulum. Early endosome membrane. Late endosome membrane. Note=Localized to the plasma membrane as a result of myristoylation. Phosphorylation on Ser-16 leads to its depletion from the membrane. Upon LPS stimulation colcoalizes with isoform 2 in late endosomes.; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum. Early endosome membrane. Late endosome membrane. Note=Translocates to late endosomes upon LPS stimulation where it colcoalizes with isoform 1.


uniprotID: Q5VWI1
geneSymbol: TCERG1L
name: Transcription elongation regulator 1-like protein
length: 586
go: ENSG00000176769;
opentargets: nucleus [GO:0005634]; RNA polymerase binding [GO:0070063]
snps: rs17857275 rs1480561756 rs17857276 rs17854242
sequence:


uniprotID: A7MCY6
geneSymbol: TBKBP1
name: TANK-binding kinase 1-binding protein 1 (TBK1-binding protein 1)
length: 615
go: ENSG00000198933;
opentargets: innate immune response [GO:0045087]; viral process [GO:0016032]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9872452}; IsoId=A7MCY6-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=A7MCY6-2; Sequence=VSP_052714, VSP_052715; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q7RTU1
geneSymbol: TCF23
name: Transcription factor 23 (TCF-23) (Class A basic helix-loop-helix protein 24) (bHLHa24)
length: 214
snps: rs11126879 rs4502371
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; cell differentiation [GO:0030154]; decidualization [GO:0046697]; muscle organ development [GO:0007517]; positive regulation of gene expression [GO:0010628]


uniprotID: Q5VWP2
geneSymbol: TENT5C
name: Terminal nucleotidyltransferase 5C (EC 2.7.7.19) (Non-canonical poly(A) polymerase FAM46C)
length: 391
go: ENSG00000183508;
snps: rs1630312
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; RNA adenylyltransferase activity [GO:1990817]; RNA binding [GO:0003723]; mRNA stabilization [GO:0048255]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28931820}. Cytoplasm {ECO:0000269|PubMed:28931820}.


uniprotID: Q9BT92
geneSymbol: TCHP
length: 498
go: ENSG00000139437;
snps: rs202208566 rs200027650 rs10774978 rs16940680
name:
Trichoplein keratin filament-binding protein (Protein TCHP) (Mitochondrial protein with oncostatic activity) (Mitostatin) (Tumor suppressor protein)

sequence:

opentargets:
apical cortex [GO:0045179]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; desmosome [GO:0030057]; keratin filament [GO:0045095]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; apoptotic process [GO:0006915]; cell projection organization [GO:0030030]; negative regulation of cell growth [GO:0030308]; negative regulation of cilium assembly [GO:1902018]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15731013}. Cytoplasm {ECO:0000269|PubMed:18931701}. Cell membrane {ECO:0000305|PubMed:15731013, ECO:0000305|PubMed:18931701}. Mitochondrion {ECO:0000269|PubMed:18931701}. Cell junction, desmosome {ECO:0000269|PubMed:15731013}.


uniprotID: Q6ZYL4
geneSymbol: GTF2H5
pdb: 1YDL;2JNJ;5IVW;5IY6;5IY7;5IY8;5IY9;5OF4;
sequence: MVNVLKGVLIECDPAMKQFLLYLDESNALGKKFIIQDIDDTHVFVIAELVNVLQERVGELMDQNAFSLTQK
length: 71
go: ENSG00000272047;
snps: rs121434365
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15220921}.
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167160;R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-167200;R-HSA-167246;R-HSA-427413;R-HSA-5696395;R-HSA-5696400;R-HSA-674695;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-6796648;R-HSA-72086;R-HSA-73762;R-HSA-73772;R-HSA-73776;R-HSA-73777;R-HSA-73779;R-HSA-73863;R-HSA-75953;R-HSA-75955;R-HSA-76042;R-HSA-77075;

name:
General transcription factor IIH subunit 5 (General transcription factor IIH polypeptide 5) (TFB5 ortholog) (TFIIH basal transcription factor complex TTD-A subunit)

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; transcription factor TFIID complex [GO:0005669]; transcription factor TFIIH core complex [GO:0000439]; rDNA binding [GO:0000182]; 7-methylguanosine mRNA capping [GO:0006370]; cellular response to gamma radiation [GO:0071480]; global genome nucleotide-excision repair [GO:0070911]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; regulation of transcription, DNA-templated [GO:0006355]; rRNA processing [GO:0006364]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase I promoter [GO:0006362]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription initiation from RNA polymerase I promoter [GO:0006361]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription-coupled nucleotide-excision repair [GO:0006283]


uniprotID: A2RU30
geneSymbol: TESPA1
name: Protein TESPA1 (Thymocyte-expressed positive selection-associated protein 1)
length: 521
go: ENSG00000135426;
snps: rs997173
sequence:

opentargets:
COP9 signalosome [GO:0008180]; cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; signaling receptor binding [GO:0005102]; COP9 signalosome assembly [GO:0010387]; positive regulation of T cell differentiation in thymus [GO:0033089]; positive regulation of T cell receptor signaling pathway [GO:0050862]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A2RU30-1; Sequence=Displayed; Name=2; IsoId=A2RU30-2; Sequence=VSP_030488; Name=3; IsoId=A2RU30-3; Sequence=VSP_030488, VSP_030489; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22561606, ECO:0000269|PubMed:23501103}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:23501103}. Note=May localize to mitochondria-associated endoplasmic reticulum membrane (MAM). {ECO:0000269|PubMed:23501103}.


uniprotID: A8MXK1
geneSymbol: VSTM5
name: V-set and transmembrane domain-containing protein 5
length: 200
go: ENSG00000214376;
sequence:

opentargets:
axon [GO:0030424]; dendrite [GO:0030425]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; filopodium assembly [GO:0046847]; positive regulation of excitatory synapse assembly [GO:1904891]; protein homooligomerization [GO:0051260]; ventral spinal cord development [GO:0021517]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9D806}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q9D806}. Cell projection, axon {ECO:0000250|UniProtKB:Q9D806}.


uniprotID: P42765
geneSymbol: ACAA2
reactome: R-HSA-77289;
pdb: 4C2J;4C2K;
length: 397
go: ENSG00000167315;
snps: rs11549285
name:
3-ketoacyl-CoA thiolase, mitochondrial (EC 2.3.1.16) (Acetyl-CoA acyltransferase) (Beta-ketothiolase) (Mitochondrial 3-oxoacyl-CoA thiolase) (T1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; acetyl-CoA C-acyltransferase activity [GO:0003988]; RNA binding [GO:0003723]; cellular response to hypoxia [GO:0071456]; cholesterol biosynthetic process [GO:0006695]; fatty acid beta-oxidation [GO:0006635]; negative regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902109]; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901029]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18371312}. Note=Colocalizes with BNIP3 in the mitochondria.


uniprotID: Q9P0N9
geneSymbol: TBC1D7
reactome: R-HSA-8854214;
pdb: 3QWL;4Z6Y;5EJC;5ULO;
name: TBC1 domain family member 7 (Cell migration-inducing protein 23)
length: 293
go: ENSG00000145979;
snps: rs543580 rs9381921
sequence:

opentargets:
ciliary basal body [GO:0036064]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; negative regulation of cilium assembly [GO:1902018]; negative regulation of TOR signaling [GO:0032007]; positive regulation of GTPase activity [GO:0043547]; positive regulation of protein ubiquitination [GO:0031398]; response to growth factor [GO:0070848]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9P0N9-1; Sequence=Displayed; Name=2; IsoId=Q9P0N9-2; Sequence=VSP_041480; Name=3; IsoId=Q9P0N9-3; Sequence=VSP_044186; Note=No experimental confirmation available.; Name=4; IsoId=Q9P0N9-4; Sequence=VSP_044892; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000269|PubMed:17658474}. Note=Localizes in the cytoplasmic vesicles of the endomembrane in association with TSC1-TSC2 complex.


uniprotID: B9A6J9
geneSymbol: TBC1D3L
name: TBC1 domain family member 3L
length: 549
go: ENSG00000274512;
sequence:


uniprotID: P57738
geneSymbol: TCTA
length: 103
go: ENSG00000145022;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
T-cell leukemia translocation-altered gene protein (T-cell leukemia translocation-associated gene protein)

sequence:
MAESWSGQALQALPATVLGALGSEFLREWEAQDMRVTLFKLLLLWLVLSLLGIQLAWGFYGNTVTGLYHRPGLGGQNGSTPDGSTHFPSWEMAANEPLKTHRE

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; negative regulation of osteoclast differentiation [GO:0045671]; osteoclast fusion [GO:0072675]


uniprotID: P40227
geneSymbol: CCT6A
reactome: R-HSA-389957;R-HSA-389960;R-HSA-390450;R-HSA-390471;R-HSA-6814122;
length: 531
go: ENSG00000146731;
snps: rs33922584
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8034610}.
name:
T-complex protein 1 subunit zeta (TCP-1-zeta) (Acute morphine dependence-related protein 2) (CCT-zeta-1) (HTR3) (Tcp20)

sequence:

opentargets:
chaperonin-containing T-complex [GO:0005832]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microtubule [GO:0005874]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; unfolded protein binding [GO:0051082]; WD40-repeat domain binding [GO:0071987]; positive regulation of establishment of protein localization to telomere [GO:1904851]; positive regulation of protein localization to Cajal body [GO:1904871]; positive regulation of telomerase RNA localization to Cajal body [GO:1904874]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protein folding [GO:0006457]; protein stabilization [GO:0050821]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P40227-1; Sequence=Displayed; Name=2; IsoId=P40227-2; Sequence=VSP_044918; Note=No experimental confirmation available.; 


uniprotID: P13385
geneSymbol: TDGF1
reactome: R-HSA-1181150;R-HSA-1433617;R-HSA-2892247;
length: 188
go: ENSG00000241186;
snps: rs11130097 rs2293025 rs34501971
name:
Teratocarcinoma-derived growth factor 1 (Cripto-1 growth factor) (CRGF) (Epidermal growth factor-like cripto protein CR1)

sequence:
MDCRKMARFSYSVIWIMAISKVFELGLVAGLGHQEFARPSRGYLAFRDDSIWPQEEPAIRPRSSQRVPPMGIQHSKELNRTCCLNGGTCMLGSFCACPPSFYGRNCEHDVRKENCGSVPHDTWLPKKCSLCKCWHGQLRCFPQAFLPGCDGLVMDEHLVASRTPELPPSARTTTFMLVGICLSIQSYY

opentargets:
anchored component of membrane [GO:0031225]; apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extrinsic component of plasma membrane [GO:0019897]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; activin receptor binding [GO:0070697]; growth factor activity [GO:0008083]; nodal binding [GO:0038100]; signaling receptor binding [GO:0005102]; activation of MAPK activity [GO:0000187]; anatomical structure development [GO:0048856]; anterior/posterior axis specification, embryo [GO:0008595]; anterior/posterior pattern specification [GO:0009952]; BMP signaling pathway [GO:0030509]; cell differentiation [GO:0030154]; cell migration involved in sprouting angiogenesis [GO:0002042]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-6 [GO:0071354]; cellular response to tumor necrosis factor [GO:0071356]; determination of left/right symmetry [GO:0007368]; embryo development ending in birth or egg hatching [GO:0009792]; heart development [GO:0007507]; mammary gland development [GO:0030879]; morphogenesis of a branching structure [GO:0001763]; negative regulation of apoptotic process [GO:0043066]; nodal signaling pathway [GO:0038092]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; regulation of signal transduction [GO:0009966]; somatic stem cell population maintenance [GO:0035019]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18930707, ECO:0000269|PubMed:27881714}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:18930707, ECO:0000269|PubMed:27881714}. Secreted {ECO:0000269|PubMed:27881714}. Note=Released from the cell membrane by GPI cleavage. {ECO:0000269|PubMed:27881714}.


uniprotID: Q9BYX2
geneSymbol: TBC1D2
reactome: R-HSA-8854214;
pdb: 2DHK;
length: 928
go: ENSG00000095383;
snps: rs879368 rs879369 rs1573025
name:
TBC1 domain family member 2A (Armus) (Prostate antigen recognized and identified by SEREX 1) (PARIS-1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; intracellular protein transport [GO:0006886]; positive regulation of GTPase activity [GO:0043547]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=A variant C; IsoId=Q9BYX2-1; Sequence=Displayed; Name=2; Synonyms=PARIS-1; IsoId=Q9BYX2-2; Sequence=VSP_039382; Name=3; Synonyms=A; IsoId=Q9BYX2-3; Sequence=VSP_039383; Name=4; IsoId=Q9BYX2-4; Sequence=VSP_039381; Name=5; IsoId=Q9BYX2-5; Sequence=VSP_039380; Name=6; IsoId=Q9BYX2-6; Sequence=VSP_039379; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20116244}. Cytoplasmic vesicle {ECO:0000269|PubMed:20116244}. Cell junction {ECO:0000269|PubMed:20116244}.


uniprotID: Q96A09
geneSymbol: TENT5B
name: Terminal nucleotidyltransferase 5B (EC 2.7.7.-)
length: 425
go: ENSG00000158246;
opentargets: RNA adenylyltransferase activity [GO:1990817]
sequence:


uniprotID: Q9UJT0
geneSymbol: TUBE1
name: Tubulin epsilon chain (Epsilon-tubulin)
length: 475
go: ENSG00000074935;
drug: DB00570;
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; pericentriolar material [GO:0000242]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; structural constituent of cytoskeleton [GO:0005200]; centrosome cycle [GO:0007098]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Associated with pericentriolar material.


uniprotID: Q9NWX6
geneSymbol: THG1L
reactome: R-HSA-6782315;
pdb: 3OTB;3OTC;3OTD;3OTE;
length: 298
go: ENSG00000113272;
snps: rs2270812
name:
Probable tRNA(His) guanylyltransferase (EC 2.7.7.79) (Interphase cytoplasmic foci protein 45) (tRNA-histidine guanylyltransferase)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; nucleotidyltransferase activity [GO:0016779]; tRNA binding [GO:0000049]; tRNA guanylyltransferase activity [GO:0008193]; protein homotetramerization [GO:0051289]; tRNA modification [GO:0006400]; tRNA processing [GO:0008033]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15459185}. Note=Found near the nuclear membrane.


uniprotID: Q7Z6L1
geneSymbol: TECPR1
pdb: 4TQ1;
name: Tectonin beta-propeller repeat-containing protein 1
length: 1165
go: ENSG00000205356;
snps: rs35623371 rs11762014
sequence:

opentargets:
autophagosome membrane [GO:0000421]; cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; nucleoplasm [GO:0005654]; phosphatidylinositol-3-phosphate binding [GO:0032266]; autophagosome maturation [GO:0097352]; autophagy [GO:0006914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7Z6L1-1; Sequence=Displayed; Name=2; IsoId=Q7Z6L1-2; Sequence=VSP_033861; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z6L1-3; Sequence=VSP_042969, VSP_042970, VSP_042973; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z6L1-4; Sequence=VSP_042971, VSP_042972; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, autophagosome membrane. Lysosome membrane. Note=Localizes to Lysosome membranes, and binds PtdIns(3)P at the surface of autophagosome. Localizes to autolysosomes, a vesicle formed by the fusion between autophagosomes and lysosomes.


uniprotID: Q99593
geneSymbol: TBX5
reactome: R-HSA-2032785;R-HSA-5578768;
pdb: 2X6U;2X6V;4S0H;5BQD;
name: T-box transcription factor TBX5 (T-box protein 5)
length: 518
go: ENSG00000089225;
snps: rs104894383 rs104894384 rs104894381 rs374906778 rs104894378 rs104894382
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; protein-DNA complex [GO:0032993]; 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]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; atrial septum morphogenesis [GO:0060413]; atrioventricular valve morphogenesis [GO:0003181]; bundle of His development [GO:0003166]; cardiac left ventricle formation [GO:0003218]; cardiac muscle cell differentiation [GO:0055007]; cell migration involved in coronary vasculogenesis [GO:0060980]; cell-cell signaling [GO:0007267]; embryonic forelimb morphogenesis [GO:0035115]; embryonic limb morphogenesis [GO:0030326]; endocardial cushion development [GO:0003197]; forelimb morphogenesis [GO:0035136]; heart development [GO:0007507]; lung development [GO:0030324]; morphogenesis of an epithelium [GO:0002009]; negative regulation of cardiac muscle cell proliferation [GO:0060044]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; pattern specification process [GO:0007389]; pericardium development [GO:0060039]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cardioblast differentiation [GO:0051891]; positive regulation of secondary heart field cardioblast proliferation [GO:0072513]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription initiation from RNA polymerase II promoter [GO:0006367]; ventricular septum development [GO:0003281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=Q99593-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q99593-2; Sequence=VSP_006387, VSP_006388; Name=3; IsoId=Q99593-3; Sequence=VSP_046845; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201, ECO:0000269|PubMed:29174768}. Cytoplasm {ECO:0000269|PubMed:29174768}. Note=Shuttles between the cytoplasm and the nucleus. Acetylation at Lys-339 promotes nuclear retention. {ECO:0000269|PubMed:29174768}.


uniprotID: Q0IIM8
geneSymbol: TBC1D8B
reactome: R-HSA-432722;
name: TBC1 domain family member 8B
length: 1120
go: ENSG00000133138;
sequence:

opentargets:
intracellular [GO:0005622]; calcium ion binding [GO:0005509]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q0IIM8-1; Sequence=Displayed; Name=2; IsoId=Q0IIM8-2; Sequence=VSP_033953, VSP_033954; Name=3; IsoId=Q0IIM8-3; Sequence=VSP_043710, VSP_033954; 


uniprotID: P62380
geneSymbol: TBPL1
length: 186
go: ENSG00000028839;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
TATA box-binding protein-like protein 1 (TBP-like protein 1) (21 kDa TBP-like protein) (Second TBP of unique DNA protein) (STUD) (TATA box-binding protein-related factor 2) (TBP-related factor 2) (TBP-like factor) (TBP-related protein)

sequence:
MDADSDVALDILITNVVCVFRTRCHLNLRKIALEGANVIYKRDVGKVLMKLRKPRITATIWSSGKIICTGATSEEEAKFGARRLARSLQKLGFQVIFTDFKVVNVLAVCNMPFEIRLPEFTKNNRPHASYEPELHPAVCYRIKSLRATLQIFSTGSITVTGPNVKAVATAVEQIYPFVFESRKEIL

opentargets:
cytoplasm [GO:0005737]; transcription factor complex [GO:0005667]; transcription factor TFIIA complex [GO:0005672]; transcription factor TFIID complex [GO:0005669]; transcription factor TFIIIB complex [GO:0000126]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase III regulatory region DNA binding [GO:0001016]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; acrosome assembly [GO:0001675]; dTTP biosynthetic process [GO:0006235]; positive regulation of transcription by RNA polymerase II [GO:0045944]; RNA polymerase III preinitiation complex assembly [GO:0070898]; spermatid nucleus differentiation [GO:0007289]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q9UHQ7
geneSymbol: TCEAL9
length: 104
go: ENSG00000185222;
opentargets: nucleus [GO:0005634]; WW domain binding [GO:0050699]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Transcription elongation factor A protein-like 9 (TCEA-like protein 9) (Transcription elongation factor S-II protein-like 9) (WW domain-binding protein 5) (WBP-5)

sequence:
MKSCQKMEGKPENESEPKHEEEPKPEEKPEEEEKLEEEAKAKGTFRERLIQSLQEFKEDIHNRHLSNEDMFREVDEIDEIRRVRNKLIVMRWKVNRNHPYPYLM


uniprotID: Q9NVR7
geneSymbol: TBCCD1
name: TBCC domain-containing protein 1
length: 557
go: ENSG00000113838;
snps: rs7619912
sequence:

opentargets:
cytoplasm [GO:0005737]; spindle pole centrosome [GO:0031616]; cell morphogenesis [GO:0000902]; maintenance of centrosome location [GO:0051661]; maintenance of Golgi location [GO:0051684]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVR7-1; Sequence=Displayed; Name=2; IsoId=Q9NVR7-2; Sequence=VSP_054000, VSP_054001; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20168327}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:20168327}. Note=Localizes at the spindle midzone, midbody and basal bodies of primary and motile cilia.


uniprotID: A6NM43
geneSymbol: CCT8L1P
name: Putative T-complex protein 1 subunit theta-like 1
length: 557
opentargets: chaperonin-containing T-complex [GO:0005832]; ATP binding [GO:0005524]
snps: rs6969304 rs12672139 rs6953943
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P40227}.
sequence:


uniprotID: Q8NEK8
geneSymbol: TENT5D
name: Terminal nucleotidyltransferase 5D (EC 2.7.7.19) (Non-canonical poly(A) polymerase FAM46D)
length: 389
go: ENSG00000174016;
opentargets: RNA adenylyltransferase activity [GO:1990817]
snps: rs1113265
sequence:


uniprotID: Q15569
geneSymbol: TESK1
reactome: R-HSA-446388;
name: Dual specificity testis-specific protein kinase 1 (EC 2.7.12.1) (Testicular protein kinase 1)
length: 626
go: ENSG00000107140;
snps: rs55673450
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein C-terminus binding [GO:0008022]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; actin cytoskeleton organization [GO:0030036]; negative regulation of protein autophosphorylation [GO:0031953]; negative regulation of protein serine/threonine kinase activity [GO:0071901]; positive regulation of stress fiber assembly [GO:0051496]; regulation of protein localization [GO:0032880]; spermatogenesis [GO:0007283]


uniprotID: Q6YHU6
geneSymbol: THADA
reactome: R-HSA-6782315;
pdb: 5T6Y;
name: Thyroid adenoma-associated protein (Gene inducing thyroid adenomas protein)
length: 1953
go: ENSG00000115970;
snps: rs10210191 rs17031056 rs7578597 rs33979934 rs17334247 rs35720761 rs17030648
sequence:

opentargets:
cytoplasmic side of endoplasmic reticulum membrane [GO:0098554]; cytosol [GO:0005829]; adaptive thermogenesis [GO:1990845]; lipid homeostasis [GO:0055088]; negative regulation of calcium-transporting ATPase activity [GO:1901895]; negative regulation of endoplasmic reticulum calcium ion concentration [GO:0032471]; tRNA methylation [GO:0030488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q6YHU6-1; Sequence=Displayed; Name=2; Synonyms=GITA-A2; IsoId=Q6YHU6-2; Sequence=VSP_034731, VSP_034734; Name=3; IsoId=Q6YHU6-3; Sequence=VSP_034735; Name=4; IsoId=Q6YHU6-4; Sequence=VSP_034730; Name=5; IsoId=Q6YHU6-5; Sequence=VSP_034732, VSP_034733; Name=6; IsoId=Q6YHU6-6; Sequence=VSP_054421, VSP_054422; Note=No experimental confirmation available.; 


uniprotID: Q9NVV9
geneSymbol: THAP1
pdb: 2JTG;2KO0;2L1G;
name: THAP domain-containing protein 1
length: 213
go: ENSG00000131931;
sequence:

opentargets:
fibrillar center [GO:0001650]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; PML body [GO:0016605]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; zinc ion binding [GO:0008270]; cell cycle [GO:0007049]; endothelial cell proliferation [GO:0001935]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of mitotic cell cycle [GO:0007346]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]

snps:
rs267607112 rs766483829 rs387907177 rs387907176 rs767952378 rs372080941 rs118204013 rs768017019 rs267607111 rs950435041 rs769988455 rs374512193 rs138918468 rs767519301 rs759392096 rs377725442 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVV9-1; Sequence=Displayed; Name=2; IsoId=Q9NVV9-2; Sequence=VSP_044665, VSP_044666; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:12717420}. Nucleus, PML body {ECO:0000269|PubMed:12717420}.


uniprotID: Q9Y4P3
geneSymbol: TBL2
length: 447
go: ENSG00000106638;
snps: rs35607697
name:
Transducin beta-like protein 2 (WS beta-transducin repeats protein) (WS-betaTRP) (Williams-Beuren syndrome chromosomal region 13 protein)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of endoplasmic reticulum membrane [GO:0030176]; phosphoprotein binding [GO:0051219]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; translation initiation factor binding [GO:0031369]; cellular response to glucose starvation [GO:0042149]; cellular response to hypoxia [GO:0071456]; endoplasmic reticulum unfolded protein response [GO:0030968]


uniprotID: P48643
geneSymbol: CCT5
reactome: R-HSA-389957;R-HSA-389960;R-HSA-390450;R-HSA-390471;R-HSA-5620922;R-HSA-6814122;
pdb: 5UYX;5UYZ;
name: T-complex protein 1 subunit epsilon (TCP-1-epsilon) (CCT-epsilon)
length: 541
go: ENSG00000150753;
snps: rs11557652 rs118203986
sequence:

opentargets:
cell body [GO:0044297]; centrosome [GO:0005813]; chaperonin-containing T-complex [GO:0005832]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microtubule [GO:0005874]; myelin sheath [GO:0043209]; nucleolus [GO:0005730]; ATP binding [GO:0005524]; beta-tubulin binding [GO:0048487]; G-protein beta-subunit binding [GO:0031681]; mRNA 3'-UTR binding [GO:0003730]; mRNA 5'-UTR binding [GO:0048027]; unfolded protein binding [GO:0051082]; binding of sperm to zona pellucida [GO:0007339]; positive regulation of establishment of protein localization to telomere [GO:1904851]; positive regulation of protein localization to Cajal body [GO:1904871]; positive regulation of telomerase RNA localization to Cajal body [GO:1904874]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protein folding [GO:0006457]; protein stabilization [GO:0050821]; response to virus [GO:0009615]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48643-1; Sequence=Displayed; Name=2; IsoId=P48643-2; Sequence=VSP_054005, VSP_054006; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20080638}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:20080638}.


uniprotID: O95379
geneSymbol: TNFAIP8
reactome: R-HSA-1483255;
length: 198
go: ENSG00000145779;
snps: rs3203922
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14724590}.
name:
Tumor necrosis factor alpha-induced protein 8 (TNF alpha-induced protein 8) (Head and neck tumor and metastasis-related protein) (MDC-3.13) (NF-kappa-B-inducible DED-containing protein) (NDED) (SCC-S2) (TNF-induced protein GG2-1)

sequence:
MHSEAEESKEVATDVFNSKNLAVQAQKKILGKMVSKSIATTLIDDTSSEVLDELYRVTREYTQNKKEAEKIIKNLIKTVIKLAILYRNNQFNQDELALMEKFKKKVHQLAMTVVSFHQVDYTFDRNVLSRLLNECREMLHQIIQRHLTAKSHGRVNNVFDHFSDCEFLAALYNPFGNFKPHLQKLCDGINKMLDEENI

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; negative regulation of apoptotic process [GO:0043066]; positive regulation of apoptotic process [GO:0043065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O95379-1; Sequence=Displayed; Name=2; IsoId=O95379-2; Sequence=VSP_024899; Name=3; IsoId=O95379-3; Sequence=VSP_024898; Name=4; IsoId=O95379-4; Sequence=VSP_054827; Note=No experimental confirmation available.; 


uniprotID: P01135
geneSymbol: TGFA
reactome: R-HSA-204005;R-HSA-5694530;R-HSA-8866910;R-HSA-9018519;
pdb: 1GK5;1MOX;1YUF;1YUG;2TGF;3E50;3TGF;4TGF;5KN5;
length: 160
go: ENSG00000163235;
snps: rs11466259
name:
Protransforming growth factor alpha [Cleaved into: Transforming growth factor alpha (TGF-alpha) (EGF-like TGF) (ETGF) (TGF type 1)]

sequence:
MVPSAGQLALFALGIVLAACQALENSTSPLSADPPVAAAVVSHFNDCPDSHTQFCFHGTCRFLVQEDKPACVCHSGYVGARCEHADLLAVVAASQKKQAITALVVVSIVALAVLIITCVLIHCCQVRKHCEWCRALICRHEKPSALLKGRTACCHSETVV

opentargets:
basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; cytoplasmic vesicle [GO:0031410]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; epidermal growth factor receptor binding [GO:0005154]; growth factor activity [GO:0008083]; activation of MAPK activity [GO:0000187]; cell proliferation [GO:0008283]; COPII vesicle coating [GO:0048208]; epidermal growth factor receptor signaling pathway [GO:0007173]; ER to Golgi vesicle-mediated transport [GO:0006888]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epidermal growth factor-activated receptor activity [GO:0045741]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of mitotic nuclear division [GO:0045840]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P01135-1; Sequence=Displayed; Name=2; IsoId=P01135-2; Sequence=VSP_038369; Name=3; Synonyms=VaII; IsoId=P01135-3; Sequence=VSP_038369, VSP_038370; Name=4; Synonyms=VaI; IsoId=P01135-4; Sequence=VSP_038371; Name=5; Synonyms=VaIM; IsoId=P01135-5; Sequence=VSP_038369, VSP_038371; 

location:
SUBCELLULAR LOCATION: Transforming growth factor alpha: Secreted, extracellular space.; SUBCELLULAR LOCATION: Protransforming growth factor alpha: Cell membrane; Single-pass type I membrane protein.


uniprotID: Q969E4
geneSymbol: TCEAL3
length: 200
go: ENSG00000196507;
opentargets: nucleus [GO:0005634]; WW domain binding [GO:0050699]
snps: rs12009847
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Transcription elongation factor A protein-like 3 (TCEA-like protein 3) (Transcription elongation factor S-II protein-like 3)

sequence:


uniprotID: Q17R31
geneSymbol: TATDN3
pdb: 2Y1H;
name: Putative deoxyribonuclease TATDN3 (EC 3.1.21.-)
length: 274
go: ENSG00000203705;
opentargets: nucleus [GO:0005634]; metal ion binding [GO:0046872]; nuclease activity [GO:0004518]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q17R31-1; Sequence=Displayed; Name=2; IsoId=Q17R31-2; Sequence=VSP_030048; Note=Gene prediction based on EST data.; Name=3; IsoId=Q17R31-3; Sequence=VSP_044448; Note=No experimental confirmation available.; Name=4; IsoId=Q17R31-4; Sequence=VSP_045263; Note=No experimental confirmation available.; Name=5; IsoId=Q17R31-5; Sequence=VSP_044448, VSP_045742; 


uniprotID: Q9BQ87
geneSymbol: TBL1Y
length: 522
go: ENSG00000092377;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
F-box-like/WD repeat-containing protein TBL1Y (Transducin beta-like protein 1Y) (Transducin-beta-like protein 1, Y-linked)

sequence:

opentargets:
histone deacetylase complex [GO:0000118]; transcription corepressor activity [GO:0003714]; histone deacetylation [GO:0016575]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P50991
geneSymbol: CCT4
reactome: R-HSA-389957;R-HSA-389960;R-HSA-390450;R-HSA-390471;R-HSA-5620922;R-HSA-6814122;
name: T-complex protein 1 subunit delta (TCP-1-delta) (CCT-delta) (Stimulator of TAR RNA-binding)
length: 539
go: ENSG00000115484;
snps: rs2272428
sequence:

opentargets:
cell body [GO:0044297]; cell projection [GO:0042995]; centrosome [GO:0005813]; chaperonin-containing T-complex [GO:0005832]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; melanosome [GO:0042470]; microtubule [GO:0005874]; nucleoplasm [GO:0005654]; zona pellucida receptor complex [GO:0002199]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; unfolded protein binding [GO:0051082]; binding of sperm to zona pellucida [GO:0007339]; positive regulation of establishment of protein localization to telomere [GO:1904851]; positive regulation of protein localization to Cajal body [GO:1904871]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomerase RNA localization to Cajal body [GO:1904874]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protein folding [GO:0006457]; protein stabilization [GO:0050821]; scaRNA localization to Cajal body [GO:0090666]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50991-1; Sequence=Displayed; Name=2; IsoId=P50991-2; Sequence=VSP_045537; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:20080638}. Melanosome {ECO:0000269|PubMed:17081065}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:20080638}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:P80315}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:17081065}.


uniprotID: Q92734
geneSymbol: TFG
reactome: R-HSA-204005;
name: Protein TFG (TRK-fused gene protein)
length: 400
go: ENSG00000114354;
snps: rs587777175 rs376971794 rs430945 rs207482230 rs6772054
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum exit site [GO:0070971]; Golgi membrane [GO:0000139]; identical protein binding [GO:0042802]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q92734-1; Sequence=Displayed; Name=2; IsoId=Q92734-2; Sequence=VSP_047131; Note=No experimental confirmation available.; Name=3; IsoId=Q92734-3; Sequence=VSP_057414, VSP_057415; Name=4; IsoId=Q92734-4; Sequence=VSP_047131, VSP_057414, VSP_057415; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:27813252}. Note=Localizes to endoplasmic reticulum exit site (ERES) (PubMed:27813252). {ECO:0000269|PubMed:27813252}.


uniprotID: Q16650
geneSymbol: TBR1
name: T-box brain protein 1 (T-brain-1) (TBR-1) (TES-56)
length: 682
go: ENSG00000136535;
snps: rs12994035
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; protein kinase binding [GO:0019901]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; amygdala development [GO:0021764]; brain development [GO:0007420]; cerebral cortex development [GO:0021987]; commitment of neuronal cell to specific neuron type in forebrain [GO:0021902]; conditioned taste aversion [GO:0001661]; hindbrain development [GO:0030902]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of axon guidance [GO:1902667]; specification of animal organ identity [GO:0010092]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16650-1; Sequence=Displayed; Name=2; IsoId=Q16650-2; Sequence=VSP_056591; Note=No experimental confirmation available.; 


uniprotID: Q9H3H9
geneSymbol: TCEAL2
length: 227
go: ENSG00000184905;
opentargets: nucleus [GO:0005634]; WW domain binding [GO:0050699]
snps: rs34924423 rs5944856
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Transcription elongation factor A protein-like 2 (TCEA-like protein 2) (Transcription elongation factor S-II protein-like 2)

sequence:


uniprotID: P20061
geneSymbol: TCN1
reactome: R-HSA-196741;R-HSA-6798695;
pdb: 2CKV;4KKI;4KKJ;
name: Transcobalamin-1 (TC-1) (Haptocorrin) (HC) (Protein R) (Transcobalamin I) (TC I) (TCI)
length: 433
go: ENSG00000134827;
drug: DB00115;DB00200;
snps: rs34528912 rs34324219
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; cobalamin binding [GO:0031419]; cobalamin metabolic process [GO:0009235]; cobalamin transport [GO:0015889]; cobalt ion transport [GO:0006824]; neutrophil degranulation [GO:0043312]


uniprotID: P20062
geneSymbol: TCN2
reactome: R-HSA-196741;R-HSA-3359454;R-HSA-3359485;
pdb: 2BB5;4ZRP;4ZRQ;5NO0;5NP4;5NRP;5NSA;
name: Transcobalamin-2 (TC-2) (Transcobalamin II) (TC II) (TCII)
length: 427
go: ENSG00000185339;
drug: DB00115;DB00200;
snps: rs9606756 rs35915865 rs35838082 rs17849434 rs1801198 rs9621049 rs1131603 rs4820889
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:3782074, ECO:0000269|PubMed:8443384}.
sequence:

opentargets:
endosome [GO:0005768]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosomal lumen [GO:0043202]; cobalamin binding [GO:0031419]; metal ion binding [GO:0046872]; cobalamin metabolic process [GO:0009235]; cobalamin transport [GO:0015889]; cobalt ion transport [GO:0006824]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P20062-1; Sequence=Displayed; Name=2; IsoId=P20062-2; Sequence=VSP_043711; Note=No experimental confirmation available.; 


uniprotID: O14746
geneSymbol: TERT
reactome: R-HSA-171319;R-HSA-201722;
pdb: 2BCK;4B18;4MNQ;5MEN;5MEO;5MEP;5MEQ;5MER;5UGW;
length: 1132
go: ENSG00000164362;
drug: DB05036;DB04937;DB00495;
name:
Telomerase reverse transcriptase (EC 2.7.7.49) (HEST2) (Telomerase catalytic subunit) (Telomerase-associated protein 2) (TP2)

sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; cytosol [GO:0005829]; mitochondrial nucleoid [GO:0042645]; nuclear chromosome, telomeric region [GO:0000784]; nuclear speck [GO:0016607]; nuclear telomere cap complex [GO:0000783]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; PML body [GO:0016605]; RNA-directed RNA polymerase complex [GO:0031379]; telomerase catalytic core complex [GO:0000333]; telomerase holoenzyme complex [GO:0005697]; TERT-RMRP complex [GO:1990572]; chaperone binding [GO:0051087]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; nucleotidyltransferase activity [GO:0016779]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; protein N-terminus binding [GO:0047485]; RNA binding [GO:0003723]; RNA-directed 5'-3' RNA polymerase activity [GO:0003968]; RNA-directed DNA polymerase activity [GO:0003964]; telomerase activity [GO:0003720]; telomerase RNA binding [GO:0070034]; telomerase RNA reverse transcriptase activity [GO:0003721]; telomeric DNA binding [GO:0042162]; template-free RNA nucleotidyltransferase [GO:0098680]; transcription coactivator binding [GO:0001223]; tRNA binding [GO:0000049]; beta-catenin-TCF complex assembly [GO:1904837]; cellular response to hypoxia [GO:0071456]; DNA biosynthetic process [GO:0071897]; DNA strand elongation [GO:0022616]; establishment of protein localization to telomere [GO:0070200]; mitochondrion organization [GO:0007005]; negative regulation of cellular senescence [GO:2000773]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of gene expression [GO:0010629]; negative regulation of glial cell proliferation [GO:0060253]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of production of siRNA involved in RNA interference [GO:1903704]; positive regulation of angiogenesis [GO:0045766]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of glucose import [GO:0046326]; positive regulation of hair cycle [GO:0042635]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of protein binding [GO:0032092]; positive regulation of protein localization to nucleolus [GO:1904751]; positive regulation of stem cell proliferation [GO:2000648]; positive regulation of transdifferentiation [GO:1903620]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; positive regulation of Wnt signaling pathway [GO:0030177]; production of siRNA involved in RNA interference [GO:0030422]; regulation of protein stability [GO:0031647]; replicative senescence [GO:0090399]; response to cadmium ion [GO:0046686]; RNA biosynthetic process [GO:0032774]; RNA-dependent DNA biosynthetic process [GO:0006278]; telomere maintenance [GO:0000723]; telomere maintenance via telomerase [GO:0007004]; transcription, RNA-templated [GO:0001172]

snps:
rs387907247 rs544215765 rs387907248 rs121918661 rs61748181 rs756624928 rs34094720 rs199422294 rs199422295 rs121918662 rs199422297 rs387907249 rs199422299 rs149566858 rs121918663 rs141425941 rs199422301 rs121918666 rs201159197 rs199422304 rs121918665 rs387907250 rs387907251 rs34062885 rs199422305 rs35719940 rs121918664 rs199422306 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O14746-1; Sequence=Displayed; Name=2; IsoId=O14746-2; Sequence=VSP_019587, VSP_019588; Name=3; IsoId=O14746-3; Sequence=VSP_021727; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=4; IsoId=O14746-4; Sequence=VSP_053369, VSP_019587, VSP_019588; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:22226966}. Nucleus, nucleoplasm. Nucleus. Chromosome, telomere. Cytoplasm. Nucleus, PML body. Note=Shuttling between nuclear and cytoplasm depends on cell cycle, phosphorylation states, transformation and DNA damage. Diffuse localization in the nucleoplasm. Enriched in nucleoli of certain cell types. Translocated to the cytoplasm via nuclear pores in a CRM1/RAN-dependent manner involving oxidative stress-mediated phosphorylation at Tyr-707. Dephosphorylation at this site by SHP2 retains TERT in the nucleus. Translocated to the nucleus by phosphorylation by AKT.


uniprotID: P36402
geneSymbol: TCF7
reactome: R-HSA-201722;R-HSA-3769402;R-HSA-4086398;R-HSA-4411364;R-HSA-4641265;R-HSA-8951430;
name: Transcription factor 7 (TCF-7) (T-cell-specific transcription factor 1) (T-cell factor 1) (TCF-1)
length: 384
go: ENSG00000081059;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nuclear body [GO:0016604]; nuclear euchromatin [GO:0005719]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; beta-catenin binding [GO:0008013]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; alpha-beta T cell differentiation [GO:0046632]; beta-catenin-TCF complex assembly [GO:1904837]; canonical Wnt signaling pathway [GO:0060070]; canonical Wnt signaling pathway involved in negative regulation of apoptotic process [GO:0044336]; cellular response to interleukin-4 [GO:0071353]; embryonic digestive tract morphogenesis [GO:0048557]; embryonic genitalia morphogenesis [GO:0030538]; embryonic hindgut morphogenesis [GO:0048619]; immune response [GO:0006955]; neural tube development [GO:0021915]; regulation of cell proliferation [GO:0042127]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; T cell receptor V(D)J recombination [GO:0033153]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=16;  Comment=2 series of isoforms, L and S, are produced by alternative promoter usage. Additional isoforms seem to exist.; Name=4L; Synonyms=D; IsoId=P36402-1; Sequence=Displayed; Name=4S; IsoId=P36402-2; Sequence=VSP_006961; Name=1L; IsoId=P36402-3; Sequence=VSP_006960; Note=Produced by alternative splicing of isoform 4L.; Name=1S; Synonyms=E; IsoId=P36402-4; Sequence=VSP_006961, VSP_006960; Note=Produced by alternative splicing of isoform 4S.; Name=5L; Synonyms=D; IsoId=P36402-9; Sequence=VSP_012160; Note=Produced by alternative splicing of isoform 4L.; Name=5S; IsoId=P36402-10; Sequence=VSP_006961, VSP_012160; Note=Produced by alternative splicing of isoform 4S.; Name=6L; Synonyms=E; IsoId=P36402-11; Sequence=VSP_012161; Note=Produced by alternative splicing of isoform 4L.; Name=6S; IsoId=P36402-12; Sequence=VSP_006961, VSP_012161; Note=Produced by alternative splicing of isoform 4S.; Name=7L; Synonyms=F; IsoId=P36402-13; Sequence=VSP_012162; Note=Produced by alternative splicing of isoform 4L.; Name=7S; IsoId=P36402-14; Sequence=VSP_006961, VSP_012162; Note=Produced by alternative splicing of isoform 4S.; Name=8L; Synonyms=G; IsoId=P36402-15; Sequence=VSP_012163; Note=Produced by alternative splicing of isoform 4L.; Name=8S; IsoId=P36402-16; Sequence=VSP_006961, VSP_012163; Note=Produced by alternative splicing of isoform 4S.; Name=2L; IsoId=P36402-5; Sequence=VSP_002191; Note=Produced by alternative splicing of isoform 4L.; Name=2S; Synonyms=B; IsoId=P36402-6; Sequence=VSP_006961, VSP_002191; Note=Produced by alternative splicing of isoform 4S.; Name=3L; IsoId=P36402-7; Sequence=VSP_002192; Note=Produced by alternative splicing of isoform 4L.; Name=3S; Synonyms=C; IsoId=P36402-8; Sequence=VSP_006961, VSP_002192; Note=Produced by alternative splicing of isoform 4S.; 


