# annotation

uniprotID: Q03519
geneSymbol: TAP2
reactome: R-HSA-1236974;R-HSA-983170;
pdb: 5U1D;
length: 686
go: ENSG00000204267;
snps: rs17220192 rs111303994 rs1800454 rs150253319 rs2228396 rs2228391 rs4148876 rs241447
name:
Antigen peptide transporter 2 (APT2) (ATP-binding cassette sub-family B member 3) (Peptide supply factor 2) (Peptide transporter PSF2) (PSF-2) (Peptide transporter TAP2) (Peptide transporter involved in antigen processing 2) (Really interesting new gene 11 protein)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; MHC class I peptide loading complex [GO:0042824]; nuclear speck [GO:0016607]; phagocytic vesicle membrane [GO:0030670]; TAP complex [GO:0042825]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; MHC class Ib protein binding [GO:0023029]; peptide antigen-transporting ATPase activity [GO:0015433]; TAP1 binding [GO:0046978]; tapasin binding [GO:0046980]; transporter activity [GO:0005215]; adaptive immune response [GO:0002250]; antigen processing and presentation of endogenous peptide antigen via MHC class I [GO:0019885]; antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent [GO:0002489]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; cytosol to ER transport [GO:0046967]; peptide antigen transport [GO:0046968]; protein transport [GO:0015031]; vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane [GO:1990668]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q03519-1; Sequence=Displayed; Name=2; IsoId=Q03519-2; Sequence=VSP_038904; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments seem to form a pore in the membrane.


uniprotID: Q14714
geneSymbol: SSPN
name: Sarcospan (K-ras oncogene-associated protein) (Kirsten-ras-associated protein)
length: 243
go: ENSG00000123096;
snps: rs12313670 rs12313736
sequence:

opentargets:
cell junction [GO:0030054]; dystrophin-associated glycoprotein complex [GO:0016010]; integral component of plasma membrane [GO:0005887]; postsynaptic membrane [GO:0045211]; sarcolemma [GO:0042383]; transport vesicle [GO:0030133]; cell adhesion [GO:0007155]; muscle contraction [GO:0006936]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=SPN1; IsoId=Q14714-1; Sequence=Displayed; Name=2; Synonyms=SPN2; IsoId=Q14714-2; Sequence=VSP_004431; Name=3; IsoId=Q14714-3; Sequence=VSP_046351; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell membrane, sarcolemma {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Also found in myotendinous junctions and in the postsynaptic membrane of neuromuscular junctions. {ECO:0000250}.


uniprotID: Q9BYN0
geneSymbol: SRXN1
pdb: 1XW3;1XW4;1YZS;2B6F;2RII;3CYI;3HY2;
name: Sulfiredoxin-1 (EC 1.8.98.2)
length: 137
go: ENSG00000271303;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15448164}.
sequence:
MGLRAGGTLGRAGAGRGAPEGPGPSGGAQGGSIHSGRIAAVHNVPLSVLIRPLPSVLDPAKVQSLVDTIREDPDSVPPIDVLWIKGAQGGDYFYSFGGCHRYAAYQQLQRETIPAKLVQSTLSDLRVYLGASTPDLQ

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; oxidoreductase activity, acting on a sulfur group of donors [GO:0016667]; sulfiredoxin activity [GO:0032542]; cellular response to oxidative stress [GO:0034599]; response to oxidative stress [GO:0006979]


uniprotID: P32745
geneSymbol: SSTR3
reactome: R-HSA-375276;R-HSA-418594;R-HSA-5620922;
name: Somatostatin receptor type 3 (SS-3-R) (SS3-R) (SS3R) (SSR-28)
length: 418
go: ENSG00000278195;
drug: DB06663;
snps: rs4988466 rs34943557 rs6413537 rs4988469 rs229568 rs4988471
sequence:

opentargets:
ciliary membrane [GO:0060170]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; non-motile cilium [GO:0097730]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; neuropeptide binding [GO:0042923]; signaling receptor binding [GO:0005102]; somatostatin receptor activity [GO:0004994]; cell-cell signaling [GO:0007267]; cellular response to estradiol stimulus [GO:0071392]; cellular response to glucocorticoid stimulus [GO:0071385]; cerebellum development [GO:0021549]; forebrain development [GO:0030900]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; hormone-mediated apoptotic signaling pathway [GO:0008628]; negative regulation of cell proliferation [GO:0008285]; neuropeptide signaling pathway [GO:0007218]; response to starvation [GO:0042594]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Internalized into endoplasmic vesicles upon somatostatin-stimulation. {ECO:0000250}.


uniprotID: P49888
geneSymbol: SULT1E1
reactome: R-HSA-156584;
pdb: 1G3M;1HY3;4JVL;4JVM;4JVN;
length: 294
go: ENSG00000109193;
drug: DB02902;DB00316;DB01812;DB01176;
snps: rs11569705
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Estrogen sulfotransferase (EC 2.8.2.4) (EST-1) (Sulfotransferase 1E1) (ST1E1) (Sulfotransferase, estrogen-preferring)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear membrane [GO:0031965]; aryl sulfotransferase activity [GO:0004062]; estrone sulfotransferase activity [GO:0004304]; flavonol 3-sulfotransferase activity [GO:0047894]; steroid binding [GO:0005496]; steroid sulfotransferase activity [GO:0050294]; sulfotransferase activity [GO:0008146]; 3'-phosphoadenosine 5'-phosphosulfate metabolic process [GO:0050427]; estrogen catabolic process [GO:0006711]; estrogen metabolic process [GO:0008210]; ethanol catabolic process [GO:0006068]; positive regulation of fat cell differentiation [GO:0045600]; steroid metabolic process [GO:0008202]; sulfation [GO:0051923]


uniprotID: Q9H668
geneSymbol: STN1
pdb: 4JOI;4JQF;
length: 368
go: ENSG00000107960;
snps: rs1057519583 rs2487999 rs765462548 rs10786775
name:
CST complex subunit STN1 (Oligonucleotide/oligosaccharide-binding fold-containing protein 1) (Suppressor of cdc thirteen homolog)

sequence:

opentargets:
CST complex [GO:1990879]; fibrillar center [GO:0001650]; intermediate filament cytoskeleton [GO:0045111]; intracellular membrane-bounded organelle [GO:0043231]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; single-stranded DNA binding [GO:0003697]; single-stranded telomeric DNA binding [GO:0043047]; telomeric DNA binding [GO:0042162]; negative regulation of telomere maintenance via telomerase [GO:0032211]; positive regulation of DNA replication [GO:0045740]; telomere capping [GO:0016233]; telomere maintenance [GO:0000723]; telomere maintenance via telomere lengthening [GO:0010833]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19854130}. Chromosome, telomere {ECO:0000269|PubMed:19648609, ECO:0000269|PubMed:19854130, ECO:0000269|PubMed:22763445}.


uniprotID: Q13586
geneSymbol: STIM1
reactome: R-HSA-139853;R-HSA-5578775;R-HSA-983695;
pdb: 2K60;2MAJ;2MAK;3TEQ;4O9B;
name: Stromal interaction molecule 1
length: 685
go: ENSG00000167323;
sequence:

opentargets:
cortical endoplasmic reticulum [GO:0032541]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of plasma membrane [GO:0005887]; microtubule [GO:0005874]; plasma membrane [GO:0005886]; sarcoplasmic reticulum membrane [GO:0033017]; calcium channel regulator activity [GO:0005246]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; microtubule plus-end binding [GO:0051010]; protease binding [GO:0002020]; activation of store-operated calcium channel activity [GO:0032237]; cellular calcium ion homeostasis [GO:0006874]; detection of calcium ion [GO:0005513]; enamel mineralization [GO:0070166]; positive regulation of angiogenesis [GO:0045766]; regulation of calcium ion transport [GO:0051924]; regulation of cardiac conduction [GO:1903779]; regulation of store-operated calcium entry [GO:2001256]; store-operated calcium entry [GO:0002115]

snps:
rs397515436 rs748277951 rs397514675 rs397514676 rs397514677 rs527236030 rs483352867 rs1057519505 rs397514671 rs35960304 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13586-1; Sequence=Displayed; Name=2; IsoId=Q13586-2; Sequence=VSP_055150, VSP_055151; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein {ECO:0000269|PubMed:11004585, ECO:0000269|PubMed:16005298, ECO:0000269|PubMed:16208375, ECO:0000269|PubMed:18854159, ECO:0000269|PubMed:19249086, ECO:0000269|PubMed:27185316, ECO:0000269|PubMed:28219928}. Endoplasmic reticulum membrane; Single-pass type I membrane protein {ECO:0000269|PubMed:16005298, ECO:0000269|PubMed:16208375, ECO:0000269|PubMed:18854159, ECO:0000269|PubMed:19249086, ECO:0000269|PubMed:26322679, ECO:0000269|PubMed:27185316}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19632184}. Sarcoplasmic reticulum {ECO:0000269|PubMed:25326555}. Note=Translocates from the endoplasmic reticulum to the cell membrane in response to a depletion of intracellular calcium and is detected at punctae corresponding to junctions between the endoplasmic reticulum and the cell membrane (PubMed:19249086, PubMed:16005298, PubMed:16208375, PubMed:18854159). Associated with the microtubule network at the growing distal tip of microtubules (PubMed:19632184). Colocalizes with ORAI1 at the cell membrane (PubMed:27185316). Colocalizes preferentially with CASQ1 at endoplasmic reticulum in response to a depletion of intracellular calcium (PubMed:27185316). {ECO:0000269|PubMed:16005298, ECO:0000269|PubMed:16208375, ECO:0000269|PubMed:18854159, ECO:0000269|PubMed:19249086, ECO:0000269|PubMed:19632184, ECO:0000269|PubMed:27185316}.


uniprotID: O14662
geneSymbol: STX16
reactome: R-HSA-6811438;R-HSA-6811440;
name: Syntaxin-16 (Syn16)
length: 325
go: ENSG00000124222;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; Golgi cisterna [GO:0031985]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; SNARE complex [GO:0031201]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; SNAP receptor activity [GO:0005484]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; Golgi ribbon formation [GO:0090161]; intracellular protein transport [GO:0006886]; retrograde transport, endosome to Golgi [GO:0042147]; vesicle docking [GO:0048278]; vesicle fusion [GO:0006906]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=B; IsoId=O14662-1; Sequence=Displayed; Name=A; IsoId=O14662-2; Sequence=VSP_006348; Name=C; IsoId=O14662-3; Sequence=VSP_006349, VSP_006350, VSP_006351; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=D; IsoId=O14662-4; Sequence=VSP_006349; Name=E; IsoId=O14662-5; Sequence=VSP_043849; Name=6; IsoId=O14662-6; Sequence=VSP_045073; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type IV membrane protein.; SUBCELLULAR LOCATION: Isoform C: Cytoplasm.


uniprotID: Q8WUJ0
geneSymbol: STYX
pdb: 2R0B;
length: 223
go: ENSG00000198252;
name:
Serine/threonine/tyrosine-interacting protein (Inactive tyrosine-protein phosphatase STYX) (Phosphoserine/threonine/tyrosine interaction protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; F-box domain binding [GO:1990444]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; pseudophosphatase activity [GO:0001691]; MAPK export from nucleus [GO:0045204]; negative regulation of catalytic activity [GO:0043086]; negative regulation of protein binding [GO:0032091]; negative regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process [GO:0062026]; regulation of ERK1 and ERK2 cascade [GO:0070372]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23847209, ECO:0000269|PubMed:28007894}. Cytoplasm, cytosol {ECO:0000269|PubMed:23847209}. Note=Predominantly localizes to the nucleus. {ECO:0000269|PubMed:23847209, ECO:0000269|PubMed:28007894}.


uniprotID: P61764
geneSymbol: STXBP1
length: 594
go: ENSG00000136854;
reactome:
R-HSA-181429;R-HSA-181430;R-HSA-210500;R-HSA-212676;R-HSA-264642;R-HSA-422356;R-HSA-6794361;R-HSA-888590;

name:
Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Protein unc-18 homolog 1) (Unc18-1) (Protein unc-18 homolog A) (Unc-18A) (p67)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; platelet alpha granule [GO:0031091]; postsynapse [GO:0098794]; presynaptic active zone membrane [GO:0048787]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; phospholipase binding [GO:0043274]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; protein N-terminus binding [GO:0047485]; RNA binding [GO:0003723]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; syntaxin-1 binding [GO:0017075]; axon target recognition [GO:0007412]; cellular response to interferon-gamma [GO:0071346]; developmental process involved in reproduction [GO:0003006]; long-term synaptic depression [GO:0060292]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of protein complex assembly [GO:0031333]; negative regulation of synaptic transmission, GABAergic [GO:0032229]; neuromuscular synaptic transmission [GO:0007274]; platelet aggregation [GO:0070527]; platelet degranulation [GO:0002576]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; positive regulation of glutamate secretion, neurotransmission [GO:1903296]; positive regulation of mast cell degranulation [GO:0043306]; positive regulation of vesicle docking [GO:0106022]; presynaptic dense core vesicle exocytosis [GO:0099525]; protein localization to plasma membrane [GO:0072659]; protein stabilization [GO:0050821]; protein transport [GO:0015031]; regulation of SNARE complex assembly [GO:0035542]; regulation of synaptic vesicle fusion to presynaptic active zone membrane [GO:0031630]; regulation of synaptic vesicle priming [GO:0010807]; response to estradiol [GO:0032355]; synaptic vesicle maturation [GO:0016188]; synaptic vesicle priming [GO:0016082]; vesicle docking involved in exocytosis [GO:0006904]

snps:
rs121918320 rs34830702 rs121918318 rs796053355 rs587777310 rs796053361 rs886041337 rs796053367 rs886041246 rs121918319 rs796053368 rs121918317 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A; IsoId=P61764-1, Q64320-1; Sequence=Displayed; Name=2; Synonyms=BE, HUNC18b; IsoId=P61764-2, Q64320-2; Sequence=VSP_006713; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20887364}. Membrane; Peripheral membrane protein.


uniprotID: Q5T5C0
geneSymbol: STXBP5
name: Syntaxin-binding protein 5 (Lethal(2) giant larvae protein homolog 3) (Tomosyn-1)
length: 1151
go: ENSG00000164506;
snps: rs1039084
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; extrinsic component of presynaptic membrane [GO:0098888]; neuromuscular junction [GO:0031594]; plasma membrane [GO:0005886]; presynaptic cytosol [GO:0099523]; Schaffer collateral - CA1 synapse [GO:0098685]; SNARE complex [GO:0031201]; synaptic vesicle [GO:0008021]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; syntaxin binding [GO:0019905]; syntaxin-1 binding [GO:0017075]; exocytosis [GO:0006887]; positive regulation of exocytosis [GO:0045921]; protein transport [GO:0015031]; regulation of exocytosis [GO:0017157]; synaptic vesicle cycle [GO:0099504]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T5C0-1; Sequence=Displayed; Name=2; IsoId=Q5T5C0-2; Sequence=VSP_016205; Name=3; IsoId=Q5T5C0-3; Sequence=VSP_016204; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Cytoplasmic, and associated with vesicular membranes and the plasma membrane. Detected at synapses and on synaptic vesicles (By similarity). {ECO:0000250}.


uniprotID: P62280
geneSymbol: RPS11
pdb: 4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G18;6G4S;6G4W;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S11 (Small ribosomal subunit protein uS17)
length: 158
go: ENSG00000142534;
sequence:
MADIQTERAYQKQPTIFQNKKRVLLGETGKEKLPRYYKNIGLGFKTPKEAIEGTYIDKKCPFTGNVSIRGRILSGVVTKMKMQRTIVIRRDYLHYIRKYNRFEKRHKNMSVHLSPCFRDVQIGDIVTVGECRPLSKTVRFNVLKVTKAAGTKKQFQKF

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ribosome [GO:0005840]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; structural constituent of ribosome [GO:0003735]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: Q9HCK4
geneSymbol: ROBO2
reactome: R-HSA-376176;R-HSA-428542;R-HSA-8985801;R-HSA-9010553;R-HSA-9010642;
pdb: 1UEM;1UJT;2EDJ;5NOI;
name: Roundabout homolog 2
length: 1378
go: ENSG00000185008;
snps: rs267607014 rs267607015
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
axolemma [GO:0030673]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; axon guidance receptor activity [GO:0008046]; identical protein binding [GO:0042802]; aorta development [GO:0035904]; aortic valve morphogenesis [GO:0003180]; apoptotic process involved in luteolysis [GO:0061364]; axon guidance [GO:0007411]; axon midline choice point recognition [GO:0016199]; brain development [GO:0007420]; cellular response to hormone stimulus [GO:0032870]; central nervous system development [GO:0007417]; endocardial cushion formation [GO:0003272]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; metanephros development [GO:0001656]; negative regulation of negative chemotaxis [GO:0050925]; negative regulation of synapse assembly [GO:0051964]; olfactory bulb interneuron development [GO:0021891]; outflow tract septum morphogenesis [GO:0003148]; positive regulation of axonogenesis [GO:0050772]; positive regulation of Notch signaling pathway involved in heart induction [GO:0035481]; pulmonary valve morphogenesis [GO:0003184]; retinal ganglion cell axon guidance [GO:0031290]; Roundabout signaling pathway [GO:0035385]; spinal cord development [GO:0021510]; ureteric bud development [GO:0001657]; ventricular septum morphogenesis [GO:0060412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HCK4-1; Sequence=Displayed; Name=2; IsoId=Q9HCK4-2; Sequence=VSP_010647; Name=3; IsoId=Q9HCK4-3; Sequence=VSP_043394; Note=No experimental confirmation available.; 


uniprotID: P62277
geneSymbol: RPS13
pdb: 4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G18;6G4S;6G4W;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S13 (Small ribosomal subunit protein uS15)
length: 151
go: ENSG00000110700;
sequence:
MGRMHAPGKGLSQSALPYRRSVPTWLKLTSDDVKEQIYKLAKKGLTPSQIGVILRDSHGVAQVRFVTGNKILRILKSKGLAPDLPEDLYHLIKKAVAVRKHLERNRKDKDAKFRLILIESRIHRLARYYKTKRVLPPNWKYESSTASALVA

opentargets:
cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; ribosome [GO:0005840]; mRNA 5'-UTR binding [GO:0048027]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; small ribosomal subunit rRNA binding [GO:0070181]; structural constituent of ribosome [GO:0003735]; negative regulation of RNA splicing [GO:0033119]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: Q5TBB1
geneSymbol: RNASEH2B
pdb: 3P56;3P87;3PUF;
length: 312
go: ENSG00000136104;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Ribonuclease H2 subunit B (RNase H2 subunit B) (Aicardi-Goutieres syndrome 2 protein) (AGS2) (Deleted in lymphocytic leukemia 8) (Ribonuclease HI subunit B)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonuclease H2 complex [GO:0032299]; RNA-DNA hybrid ribonuclease activity [GO:0004523]; in utero embryonic development [GO:0001701]; negative regulation of gene expression [GO:0010629]; positive regulation of fibroblast proliferation [GO:0048146]; regulation of DNA damage checkpoint [GO:2000001]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; ribonucleotide metabolic process [GO:0009259]; RNA catabolic process [GO:0006401]

snps:
rs79564863 rs75325951 rs78071087 rs76158094 rs77931005 rs78705382 rs76219783 rs75971463 rs79310911 rs75184679 rs77377571 rs74555752 rs77391331 rs768565639 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TBB1-1; Sequence=Displayed; Name=2; IsoId=Q5TBB1-2; Sequence=VSP_054039, VSP_054040; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q99942
geneSymbol: RNF5
reactome: R-HSA-382556;R-HSA-5678895;R-HSA-901032;
length: 180
go: ENSG00000204308;
name:
E3 ubiquitin-protein ligase RNF5 (EC 2.3.2.27) (Protein G16) (RING finger protein 5) (RING-type E3 ubiquitin transferase RNF5) (Ram1 homolog) (HsRma1)

sequence:
MAAAEEEDGGPEGPNRERGGAGATFECNICLETAREAVVSVCGHLYCWPCLHQWLETRPERQECPVCKAGISREKVVPLYGRGSQKPQDPRLKTPPRPQGQRPAPESRGGFQPFGDTGGFHFSFGVGAFPFGFFTTVFNAHEPFRRGTGVDLGQGHPASSWQDSLFLFLAIFFFFWLLSI

opentargets:
Derlin-1 retrotranslocation complex [GO:0036513]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum quality control compartment [GO:0044322]; integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; identical protein binding [GO:0042802]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-like protein conjugating enzyme binding [GO:0044390]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; cellular protein catabolic process [GO:0044257]; endoplasmic reticulum mannose trimming [GO:1904380]; ER-associated misfolded protein catabolic process [GO:0071712]; ERAD pathway [GO:0036503]; negative regulation of autophagy [GO:0010507]; protein destabilization [GO:0031648]; protein K48-linked ubiquitination [GO:0070936]; protein K63-linked ubiquitination [GO:0070534]; regulation of autophagosome assembly [GO:2000785]; response to bacterium [GO:0009617]; transmembrane transport [GO:0055085]; ubiquitin-dependent ERAD pathway [GO:0030433]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Mitochondrion membrane. Endoplasmic reticulum membrane. Note=Predominantly located in the plasma membrane, with some localization occurring within cytoplasmic organelles.


uniprotID: P46783
geneSymbol: RPS10
pdb: 4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S10 (Small ribosomal subunit protein eS10)
length: 165
go: ENSG00000124614;
sequence:
MLMPKKNRIAIYELLFKEGVMVAKKDVHMPKHPELADKNVPNLHVMKAMQSLKSRGYVKEQFAWRHFYWYLTNEGIQYLRDYLHLPPEIVPATLRRSRPETGRPRPKGLEGERPARLTRGEADRDTYRRSAVPPGADKKAEAGAGSATEFQFRGGFGRGRGQPPQ

opentargets:
cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ribosome [GO:0005840]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; ribosomal small subunit assembly [GO:0000028]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20159986}. Nucleus, nucleolus {ECO:0000269|PubMed:20159986}. Note=Localized in the granular component (GC) region of the nucleolus. Methylation is required for its localization in the GC region. Colocalizes with NPS1 in the GC region of the nucleolus.


uniprotID: Q96MS0
geneSymbol: ROBO3
reactome: R-HSA-428542;R-HSA-9010553;R-HSA-9010642;
name: Roundabout homolog 3 (Roundabout-like protein 3)
length: 1386
go: ENSG00000154134;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
axon [GO:0030424]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell-cell adhesion mediator activity [GO:0098632]; axon guidance [GO:0007411]; axon midline choice point recognition [GO:0016199]; chemoattraction of axon [GO:0061642]; commissural neuron axon guidance [GO:0071679]; dendrite self-avoidance [GO:0070593]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; Roundabout signaling pathway [GO:0035385]

snps:
rs121918275 rs121918276 rs121918274 rs121918270 rs3862618 rs4935898 rs121918271 rs121918272 rs55706177 rs35723495 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MS0-1; Sequence=Displayed; Name=2; IsoId=Q96MS0-2; Sequence=VSP_010650, VSP_010651; 


uniprotID: Q8WZ75
geneSymbol: ROBO4
name: Roundabout homolog 4 (Magic roundabout)
length: 1007
go: ENSG00000154133;
snps: rs59648931 rs4408324
sequence:

opentargets:
axon [GO:0030424]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell-cell adhesion mediator activity [GO:0098632]; signaling receptor activity [GO:0038023]; angiogenesis [GO:0001525]; axon guidance [GO:0007411]; dendrite self-avoidance [GO:0070593]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; regulation of cell migration [GO:0030334]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WZ75-1; Sequence=Displayed; Name=2; IsoId=Q8WZ75-2; Sequence=VSP_010658, VSP_010659; Name=3; IsoId=Q8WZ75-3; Sequence=VSP_010654, VSP_010657; 


uniprotID: P12271
geneSymbol: RLBP1
reactome: R-HSA-2187335;R-HSA-2453864;R-HSA-2453902;
pdb: 1XGG;1XGH;3HX3;3HY5;4CIZ;4CJ6;
name: Retinaldehyde-binding protein 1 (Cellular retinaldehyde-binding protein)
length: 317
go: ENSG00000140522;
drug: DB00162;
snps: rs137853290 rs137853291 rs28933990
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cell body [GO:0044297]; cytosol [GO:0005829]; 11-cis retinal binding [GO:0005502]; retinol binding [GO:0019841]; response to stimulus [GO:0050896]; retinoid metabolic process [GO:0001523]; visual perception [GO:0007601]; vitamin A metabolic process [GO:0006776]


uniprotID: Q96EH5
geneSymbol: RPL39L
sequence: MSSHKTFTIKRFLAKKQKQNRPIPQWIQMKPGSKIRYNSKRRHWRRTKLGL
length: 51
go: ENSG00000163923;
name:
60S ribosomal protein L39-like (60S ribosomal protein L39-2) (Large ribosomal subunit protein eL39-like)

opentargets:
cytosolic large ribosomal subunit [GO:0022625]; structural constituent of ribosome [GO:0003735]; spermatogenesis [GO:0007283]; translation [GO:0006412]


uniprotID: Q9Y6S9
geneSymbol: RPS6KL1
name: Ribosomal protein S6 kinase-like 1 (EC 2.7.11.1)
length: 549
go: ENSG00000198208;
snps: rs7156590 rs2286913 rs55871101
sequence:

opentargets:
ribosome [GO:0005840]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y6S9-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9Y6S9-2; Sequence=VSP_036440, VSP_036441; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y6S9-4; Sequence=VSP_017931, VSP_017932; Note=No experimental confirmation available.; 


uniprotID: P62424
geneSymbol: RPL7A
pdb: 4UG0;4V6X;5AJ0;5LKS;5T2C;6EK0;
length: 266
go: ENSG00000148303;
name:
60S ribosomal protein L7a (Large ribosomal subunit protein eL8) (PLA-X polypeptide) (Surfeit locus protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic large ribosomal subunit [GO:0022625]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; polysomal ribosome [GO:0042788]; synapse [GO:0045202]; cadherin binding [GO:0045296]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; maturation of LSU-rRNA [GO:0000470]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: Q68DV7
geneSymbol: RNF43
reactome: R-HSA-4641263;R-HSA-5340588;
pdb: 4KNG;
length: 783
go: ENSG00000108375;
snps: rs3744093 rs2257205 rs2285990 rs2680701 rs34523089 rs2526374 rs9652855
name:
E3 ubiquitin-protein ligase RNF43 (EC 2.3.2.27) (RING finger protein 43) (RING-type E3 ubiquitin transferase RNF43)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; nuclear envelope [GO:0005635]; plasma membrane [GO:0005886]; frizzled binding [GO:0005109]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; negative regulation of Wnt signaling pathway [GO:0030178]; protein ubiquitination [GO:0016567]; stem cell proliferation [GO:0072089]; ubiquitin-dependent protein catabolic process [GO:0006511]; Wnt receptor catabolic process [GO:0038018]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q68DV7-1; Sequence=Displayed; Name=2; IsoId=Q68DV7-2; Sequence=VSP_037339; Note=No experimental confirmation available.; Name=3; IsoId=Q68DV7-3; Sequence=VSP_037338; Note=No experimental confirmation available.; Name=4; IsoId=Q68DV7-4; Sequence=VSP_037340; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Nucleus envelope. Note=According to a report, may be secreted. {ECO:0000269|PubMed:15492824}.


uniprotID: Q9Y252
geneSymbol: RNF6
reactome: R-HSA-983168;
name: E3 ubiquitin-protein ligase RNF6 (EC 2.3.2.27) (RING-type E3 ubiquitin transferase RNF6)
length: 685
go: ENSG00000127870;
snps: rs3910433 rs121434522 rs61760897 rs7990167 rs121434523 rs121434524 rs138379662 rs17083436
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; androgen receptor binding [GO:0050681]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; negative regulation of axon extension [GO:0030517]; positive regulation of transcription, DNA-templated [GO:0045893]; protein K27-linked ubiquitination [GO:0044314]; protein K48-linked ubiquitination [GO:0070936]; protein K6-linked ubiquitination [GO:0085020]; regulation of androgen receptor signaling pathway [GO:0060765]; regulation of transcription, DNA-templated [GO:0006355]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y252-1; Sequence=Displayed; Name=2; IsoId=Q9Y252-2; Sequence=VSP_055424, VSP_055425; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y252-3; Sequence=VSP_055426, VSP_055427; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19345326}. Cytoplasm {ECO:0000269|PubMed:19345326}. Cell projection, axon {ECO:0000250}. Nucleus, PML body {ECO:0000250}. Note=Localizes to the PML nuclear bodies in Sertoli cells. {ECO:0000250}.


uniprotID: P04844
geneSymbol: RPN2
reactome: R-HSA-1799339;R-HSA-446203;
length: 631
go: ENSG00000118705;
snps: rs34951322
name:
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 (Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit) (RIBIIR) (Ribophorin II) (RPN-II) (Ribophorin-2)

sequence:

opentargets:
autophagosome membrane [GO:0000421]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; oligosaccharyltransferase complex [GO:0008250]; rough endoplasmic reticulum [GO:0005791]; ribosome binding [GO:0043022]; aging [GO:0007568]; cellular protein modification process [GO:0006464]; protein N-linked glycosylation [GO:0006487]; protein N-linked glycosylation via asparagine [GO:0018279]; response to drug [GO:0042493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P04844-1; Sequence=Displayed; Name=2; IsoId=P04844-2; Sequence=VSP_043051, VSP_043052; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250|UniProtKB:F1PCT7}. Endoplasmic reticulum membrane; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q969K3
geneSymbol: RNF34
reactome: R-HSA-6804757;R-HSA-983168;
length: 372
go: ENSG00000170633;
name:
E3 ubiquitin-protein ligase RNF34 (EC 2.3.2.27) (Caspase regulator CARP1) (Caspases-8 and -10-associated RING finger protein 1) (CARP-1) (FYVE-RING finger protein Momo) (Human RING finger homologous to inhibitor of apoptosis protein) (hRFI) (RING finger protein 34) (RING finger protein RIFF) (RING-type E3 ubiquitin transferase RNF34)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; p53 binding [GO:0002039]; phosphatidylinositol phosphate binding [GO:1901981]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin protein ligase binding [GO:0031625]; apoptotic process [GO:0006915]; cellular response to cold [GO:0070417]; negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis [GO:2001271]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of signal transduction by p53 class mediator [GO:1901797]; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway [GO:0035872]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein K48-linked ubiquitination [GO:0070936]; protein ubiquitination [GO:0016567]; regulation of oxygen metabolic process [GO:2000374]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969K3-1; Sequence=Displayed; Name=2; IsoId=Q969K3-2; Sequence=VSP_038341; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15069192}; Peripheral membrane protein {ECO:0000305}. Endomembrane system {ECO:0000250|UniProtKB:Q6AYH3}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q6AYH3}. Nucleus {ECO:0000269|PubMed:22064484}. Nucleus speckle {ECO:0000269|PubMed:12118383}. Cytoplasm, cytosol {ECO:0000269|PubMed:15069192}.


uniprotID: Q9H4P4
geneSymbol: RNF41
reactome: R-HSA-1358803;R-HSA-983168;
pdb: 2FZP;2GWF;
length: 317
go: ENSG00000181852;
name:
E3 ubiquitin-protein ligase NRDP1 (EC 2.3.2.27) (RING finger protein 41) (RING-type E3 ubiquitin transferase NRDP1)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum tubular network [GO:0071782]; perinuclear region of cytoplasm [GO:0048471]; erythropoietin receptor binding [GO:0005128]; interleukin-3 receptor binding [GO:0005135]; protein domain specific binding [GO:0019904]; Ral GTPase binding [GO:0017160]; receptor tyrosine kinase binding [GO:0030971]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; autophagy [GO:0006914]; extrinsic apoptotic signaling pathway [GO:0097191]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of mitophagy [GO:1901525]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; proteasomal protein catabolic process [GO:0010498]; protein autoubiquitination [GO:0051865]; protein polyubiquitination [GO:0000209]; regulation of establishment of cell polarity [GO:2000114]; regulation of lymphocyte differentiation [GO:0045619]; regulation of MAPK cascade [GO:0043408]; regulation of myeloid cell differentiation [GO:0045637]; regulation of protein kinase B signaling [GO:0051896]; regulation of reactive oxygen species metabolic process [GO:2000377]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H4P4-1; Sequence=Displayed; Name=2; IsoId=Q9H4P4-2; Sequence=VSP_044670; Note=No experimental confirmation available.; 


uniprotID: Q9Y2L1
geneSymbol: DIS3
reactome: R-HSA-380994;R-HSA-429958;R-HSA-450385;R-HSA-450513;R-HSA-450604;R-HSA-6791226;
pdb: 6D6Q;6D6R;6H25;
length: 958
go: ENSG00000083520;
snps: rs4883918 rs7332388
name:
Exosome complex exonuclease RRP44 (EC 3.1.13.-) (EC 3.1.26.-) (Protein DIS3 homolog) (Ribosomal RNA-processing protein 44)

sequence:

opentargets:
cytoplasmic exosome (RNase complex) [GO:0000177]; cytosol [GO:0005829]; exosome (RNase complex) [GO:0000178]; membrane [GO:0016020]; nuclear exosome (RNase complex) [GO:0000176]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 3'-5'-exoribonuclease activity [GO:0000175]; endonuclease activity [GO:0004519]; guanyl-nucleotide exchange factor activity [GO:0005085]; RNA binding [GO:0003723]; CUT catabolic process [GO:0071034]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; regulation of mRNA stability [GO:0043488]; RNA catabolic process [GO:0006401]; rRNA catabolic process [GO:0016075]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2L1-1; Sequence=Displayed; Name=2; IsoId=Q9Y2L1-2; Sequence=VSP_014971; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20531386}. Nucleus, nucleolus {ECO:0000269|PubMed:12429849}. Nucleus, nucleoplasm {ECO:0000269|PubMed:20531389}. Nucleus {ECO:0000269|PubMed:20531386}. Note=Predominantly located in the nucleus (PubMed:20531386). According to PubMed:12429849, found in the nucleolus (PubMed:12429849). According to PubMed:20531386, excluded from nucleolus supporting the existence of a nucleolar RNA exosome complex devoid of DIS3 (PubMed:20531386). {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:20531386}.


uniprotID: Q9UHP6
geneSymbol: RSPH14
name: Radial spoke head 14 homolog (Rhabdoid tumor deletion region protein 1)
length: 348
go: ENSG00000100218;
snps: rs35211242
sequence:


uniprotID: Q7L4I2
geneSymbol: RSRC2
name: Arginine/serine-rich coiled-coil protein 2
length: 434
go: ENSG00000111011;
opentargets: RNA binding [GO:0003723]
snps: rs17886684
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L4I2-1; Sequence=Displayed; Name=2; IsoId=Q7L4I2-2; Sequence=VSP_030440; 


uniprotID: Q86UC2
geneSymbol: RSPH3
length: 560
go: ENSG00000130363;
opentargets: cilium [GO:0005929]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]
snps: rs16889320 rs34582178 rs10455840 rs768994 rs12204826 rs3756987
name:
Radial spoke head protein 3 homolog (A-kinase anchor protein RSPH3) (Radial spoke head-like protein 2)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86UC2-1; Sequence=Displayed; Name=2; IsoId=Q86UC2-2; Sequence=VSP_030128; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:P12759}. Cell projection, cilium {ECO:0000269|PubMed:27120127}.


uniprotID: Q6UXX9
geneSymbol: RSPO2
reactome: R-HSA-4641263;
name: R-spondin-2 (Roof plate-specific spondin-2) (hRspo2)
length: 243
go: ENSG00000147655;
snps: rs601558
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q8BFU0}.
sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; frizzled binding [GO:0005109]; heparin binding [GO:0008201]; signaling receptor binding [GO:0005102]; bone mineralization [GO:0030282]; dopaminergic neuron differentiation [GO:0071542]; embryonic forelimb morphogenesis [GO:0035115]; embryonic hindlimb morphogenesis [GO:0035116]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; lung growth [GO:0060437]; negative regulation of odontogenesis of dentin-containing tooth [GO:0042489]; osteoblast differentiation [GO:0001649]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of Wnt signaling pathway [GO:0030177]; trachea cartilage morphogenesis [GO:0060535]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UXX9-1; Sequence=Displayed; Name=2; IsoId=Q6UXX9-2; Sequence=VSP_018321; Note=No experimental confirmation available.; Name=3; IsoId=Q6UXX9-3; Sequence=VSP_018322, VSP_018323; Note=No experimental confirmation available.; 


uniprotID: Q15404
geneSymbol: RSU1
reactome: R-HSA-446388;
name: Ras suppressor protein 1 (RSP-1) (Rsu-1)
length: 277
go: ENSG00000148484;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of GTPase activity [GO:0043547]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15404-1; Sequence=Displayed; Name=2; IsoId=Q15404-2; Sequence=VSP_043831; 


uniprotID: P49589
geneSymbol: CARS
reactome: R-HSA-379716;
name: Cysteine--tRNA ligase, cytoplasmic (EC 6.1.1.16) (Cysteinyl-tRNA synthetase) (CysRS)
length: 748
go: ENSG00000110619;
drug: DB00151;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; cysteine-tRNA ligase activity [GO:0004817]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; tRNA binding [GO:0000049]; cysteinyl-tRNA aminoacylation [GO:0006423]; tRNA aminoacylation for protein translation [GO:0006418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P49589-1; Sequence=Displayed; Name=2; IsoId=P49589-2; Sequence=VSP_006312; Note=Found in 20% of the mRNAs.; Name=3; IsoId=P49589-3; Sequence=VSP_043571; 


uniprotID: P14868
geneSymbol: DARS
reactome: R-HSA-2408517;R-HSA-379716;
pdb: 4J15;5Y6L;
length: 501
go: ENSG00000115866;
drug: DB00128;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}.
name:
Aspartate--tRNA ligase, cytoplasmic (EC 6.1.1.12) (Aspartyl-tRNA synthetase) (AspRS) (Cell proliferation-inducing gene 40 protein)

sequence:

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; synapse [GO:0045202]; aminoacylase activity [GO:0004046]; aspartate-tRNA ligase activity [GO:0004815]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; aspartyl-tRNA aminoacylation [GO:0006422]; protein-containing complex assembly [GO:0065003]; translation [GO:0006412]; tRNA aminoacylation for protein translation [GO:0006418]

snps:
rs886037635 rs369152939 rs370064817 rs1803165 rs587776985 rs148806569 rs587776984 rs147077598 rs147077598 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14868-1; Sequence=Displayed; Name=2; IsoId=P14868-2; Sequence=VSP_056192; Note=No experimental confirmation available.; 


uniprotID: Q9H0K4
geneSymbol: RSPH6A
name: Radial spoke head protein 6 homolog A (Radial spoke head-like protein 1)
length: 717
go: ENSG00000104941;
opentargets: intracellular [GO:0005622]
snps: rs12459916
sequence:


uniprotID: P14678
geneSymbol: SNRPB
reactome: R-HSA-109688;R-HSA-111367;R-HSA-191859;R-HSA-72163;R-HSA-72165;R-HSA-77588;
pdb: 1D3B;3CW1;3JCR;3PGW;4PJO;4WZJ;5MQF;5O9Z;5XJC;5YZG;5Z56;5Z57;5Z58;
length: 240
go: ENSG00000125835;
snps: rs11545672
name:
Small nuclear ribonucleoprotein-associated proteins B and B' (snRNP-B) (Sm protein B/B') (Sm-B/B') (SmB/B')

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; histone pre-mRNA 3'end processing complex [GO:0071204]; methylosome [GO:0034709]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small nuclear ribonucleoprotein complex [GO:0030532]; SMN-Sm protein complex [GO:0034719]; spliceosomal complex [GO:0005681]; telomerase holoenzyme complex [GO:0005697]; U1 snRNP [GO:0005685]; U12-type spliceosomal complex [GO:0005689]; U2 snRNP [GO:0005686]; U2-type catalytic step 2 spliceosome [GO:0071007]; U2-type precatalytic spliceosome [GO:0071005]; U2-type prespliceosome [GO:0071004]; U4 snRNP [GO:0005687]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U5 snRNP [GO:0005682]; U7 snRNP [GO:0005683]; histone pre-mRNA DCP binding [GO:0071208]; RNA binding [GO:0003723]; telomerase RNA binding [GO:0070034]; U2 snRNA binding [GO:0030620]; histone mRNA metabolic process [GO:0008334]; import into nucleus [GO:0051170]; mRNA splicing, via spliceosome [GO:0000398]; protein methylation [GO:0006479]; RNA splicing [GO:0008380]; spliceosomal snRNP assembly [GO:0000387]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=SM-B'; IsoId=P14678-1; Sequence=Displayed; Name=SM-B; IsoId=P14678-2; Sequence=VSP_005914; Name=SM-B1; IsoId=P14678-3; Sequence=VSP_012221; 


uniprotID: P63220
geneSymbol: RPS21
pdb: 4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6G18;6G4S;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S21 (Small ribosomal subunit protein eS21)
sequence: MQNDAGEFVDLYVPRKCSASNRIIGAKDHASIQMNVAEVDKVTGRFNGQFKTYAICGAIRRMGESDDSILRLAKADGIVSKNF
length: 83
go: ENSG00000171858;
opentargets:
cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; nucleoplasm [GO:0005654]; polysomal ribosome [GO:0042788]; rough endoplasmic reticulum [GO:0005791]; small ribosomal subunit [GO:0015935]; synapse [GO:0045202]; protein N-terminus binding [GO:0047485]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; cytoplasmic translation [GO:0002181]; endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000447]; endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000461]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:25957688}. Cytoplasm {ECO:0000305|PubMed:23636399, ECO:0000305|PubMed:25901680}. Rough endoplasmic reticulum {ECO:0000250|UniProtKB:P63221}. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:P63221, ECO:0000269|PubMed:25957688}.


uniprotID: P42677
geneSymbol: RPS27
pdb: 4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G18;6G4S;6G4W;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S27 (Metallopan-stimulin 1) (MPS-1) (Small ribosomal subunit protein eS27)
sequence: MPLAKDLLHPSPEEEKRKHKKKRLVQSPNSYFMDVKCPGCYKITTVFSHAQTVVLCVGCSTVLCQPTGGKARLTEGCSFRRKQH
length: 84
go: ENSG00000177954;
reactome:
R-HSA-141444;R-HSA-156827;R-HSA-156902;R-HSA-1799339;R-HSA-192823;R-HSA-2408557;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-6791226;R-HSA-68877;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;R-HSA-72764;R-HSA-9010553;R-HSA-975956;R-HSA-975957;

opentargets:
cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; presynapse [GO:0098793]; ribosome [GO:0005840]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; zinc ion binding [GO:0008270]; cell proliferation [GO:0008283]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; ribosomal small subunit assembly [GO:0000028]; rRNA processing [GO:0006364]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: P62753
geneSymbol: RPS6
name: 40S ribosomal protein S6 (Phosphoprotein NP33) (Small ribosomal subunit protein eS6)
length: 249
go: ENSG00000137154;
snps: rs17852447
reactome:
R-HSA-156827;R-HSA-156902;R-HSA-166208;R-HSA-1799339;R-HSA-192823;R-HSA-2408557;R-HSA-6790901;R-HSA-6791226;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;R-HSA-72764;R-HSA-9010553;R-HSA-975956;R-HSA-975957;

pdb:
4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6F4P;6F4Q;6FEC;6G18;6G4S;6G4W;6G51;6G53;6G5H;6G5I;

sequence:

opentargets:
cell body [GO:0044297]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; polysome [GO:0005844]; ribonucleoprotein complex [GO:1990904]; small ribosomal subunit [GO:0015935]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; activation-induced cell death of T cells [GO:0006924]; erythrocyte development [GO:0048821]; G1/S transition of mitotic cell cycle [GO:0000082]; gastrulation [GO:0007369]; glucose homeostasis [GO:0042593]; mammalian oogenesis stage [GO:0022605]; mitotic cell cycle checkpoint [GO:0007093]; negative regulation of apoptotic process [GO:0043066]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; placenta development [GO:0001890]; positive regulation of apoptotic process [GO:0043065]; ribosomal small subunit biogenesis [GO:0042274]; rRNA processing [GO:0006364]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; T cell differentiation in thymus [GO:0033077]; T cell proliferation involved in immune response [GO:0002309]; TOR signaling [GO:0031929]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: Q96T23
geneSymbol: RSF1
reactome: R-HSA-606279;
length: 1441
go: ENSG00000048649;
snps: rs58758035 rs7950873
name:
Remodeling and spacing factor 1 (Rsf-1) (HBV pX-associated protein 8) (Hepatitis B virus X-associated protein) (p325 subunit of RSF chromatin-remodeling complex)

sequence:

opentargets:
histone acetyltransferase complex [GO:0000123]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RSF complex [GO:0031213]; histone acetyltransferase activity [GO:0004402]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; CENP-A containing nucleosome assembly [GO:0034080]; chromatin remodeling [GO:0006338]; DNA-templated transcription, initiation [GO:0006352]; negative regulation of DNA binding [GO:0043392]; negative regulation of transcription, DNA-templated [GO:0045892]; nucleosome assembly [GO:0006334]; nucleosome positioning [GO:0016584]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of viral transcription [GO:0050434]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=Alpha, XAP8alpha; IsoId=Q96T23-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q96T23-2; Sequence=VSP_012500; Name=3; Synonyms=Gamma; IsoId=Q96T23-3; Sequence=VSP_012499; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11788598, ECO:0000269|PubMed:11944984, ECO:0000269|PubMed:12972596}.


uniprotID: Q8N0S2
geneSymbol: SYCE1
reactome: R-HSA-1221632;
name: Synaptonemal complex central element protein 1 (Cancer/testis antigen 76) (CT76)
length: 351
go: ENSG00000171772;
snps: rs8181357 rs3747881 rs1313001903
sequence:

opentargets:
central element [GO:0000801]; synaptonemal complex [GO:0000795]; cell division [GO:0051301]; synaptonemal complex assembly [GO:0007130]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N0S2-1; Sequence=Displayed; Name=2; IsoId=Q8N0S2-2; Sequence=VSP_021691, VSP_021692; Name=3; IsoId=Q8N0S2-3; Sequence=VSP_021690, VSP_021692; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9D495}. Chromosome {ECO:0000250|UniProtKB:Q9D495}. Note=Associates with chromatin. In prophase I stage of meiosis, localizes in the transverse central elements of the central region between lateral elements of the synaptonemal complexes. Found only where the chromosome cores are synapsed. Colocalizes with SYCE2 in the central elements. {ECO:0000250|UniProtKB:Q9D495}.


uniprotID: Q9BPW5
geneSymbol: RASL11B
name: Ras-like protein family member 11B
length: 248
go: ENSG00000128045;
sequence:

opentargets:
membrane [GO:0016020]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; transforming growth factor beta receptor binding [GO:0005160]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; signal transduction [GO:0007165]


uniprotID: Q5T4T6
geneSymbol: SYCP2L
name: Synaptonemal complex protein 2-like (SCP-2-like) (145 kDa nucleolar protein homolog) (hsNO145)
length: 812
go: ENSG00000153157;
opentargets: condensed nuclear chromosome, centromeric region [GO:0000780]; nucleoplasm [GO:0005654]
snps: rs6456746 rs905595849 rs3798751 rs1225746
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T4T6-1; Sequence=Displayed; Name=2; IsoId=Q5T4T6-2; Sequence=VSP_033545; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17374641}. Chromosome, centromere {ECO:0000269|PubMed:26362258}. Note=Localized to the synaptonemal complex lateral elements in late diplotene oocytes, while it is absent on the synaptonemal complex of leptotene, zygotene, pachytene and early diplotene oocytes (By similarity). Localizes to centromeres in dictyate oocytes (By similarity). Detected in nuclear granules and sizable aggregates (PubMed:17374641). {ECO:0000250|UniProtKB:A0A0M3U1B0, ECO:0000269|PubMed:17374641}.


uniprotID: P13693
geneSymbol: TPT1
pdb: 1YZ1;2HR9;3EBM;4Z9V;5O9L;5O9M;
name: Translationally-controlled tumor protein (TCTP) (Fortilin) (Histamine-releasing factor) (HRF) (p23)
length: 172
go: ENSG00000133112;
snps: rs3087989
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9059837}.
sequence:
MIIYRDLISHDEMFSDIYKIREIADGLCLEVEGKMVSRTEGNIDDSLIGGNASAEGPEGEGTESTVITGVDIVMNHHLQETSFTKEAYKKYIKDYMKSIKGKLEEQRPERVKPFMTGAAEQIKHILANFKNYQFFIGENMNPDGMVALLDYREDGVTPYMIFFKDGLEMEKC

opentargets:
cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; multivesicular body [GO:0005771]; nucleus [GO:0005634]; spindle pole [GO:0000922]; calcium ion binding [GO:0005509]; RNA binding [GO:0003723]; calcium ion transport [GO:0006816]; cellular calcium ion homeostasis [GO:0006874]; negative regulation of apoptotic process [GO:0043066]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; regulation of apoptotic process [GO:0042981]; response to virus [GO:0009615]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13693-1; Sequence=Displayed; Name=2; IsoId=P13693-2; Sequence=VSP_054838; 


uniprotID: Q9NVG8
geneSymbol: TBC1D13
reactome: R-HSA-8854214;
name: TBC1 domain family member 13
length: 400
go: ENSG00000107021;
snps: rs1572912
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; 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=Q9NVG8-1; Sequence=Displayed; Name=2; IsoId=Q9NVG8-2; Sequence=VSP_039845; Name=3; IsoId=Q9NVG8-3; Sequence=VSP_053994; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q8R3D1}. Cytoplasm {ECO:0000250|UniProtKB:Q8R3D1}.


uniprotID: Q92526
geneSymbol: CCT6B
reactome: R-HSA-389957;R-HSA-389960;R-HSA-390450;R-HSA-390471;R-HSA-6814122;
length: 530
go: ENSG00000132141;
snps: rs9635769 rs2230552 rs2230553
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:8812458}.
name:
T-complex protein 1 subunit zeta-2 (TCP-1-zeta-2) (CCT-zeta-2) (CCT-zeta-like) (TCP-1-zeta-like) (Testis-specific Tcp20) (Testis-specific protein TSA303)

sequence:

opentargets:
chaperonin-containing T-complex [GO:0005832]; cytosol [GO:0005829]; ATP binding [GO:0005524]; protein transporter activity [GO:0008565]; unfolded protein binding [GO:0051082]; chaperone-mediated protein complex assembly [GO:0051131]; protein folding [GO:0006457]; spermatogenesis [GO:0007283]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92526-1; Sequence=Displayed; Name=2; IsoId=Q92526-2; Sequence=VSP_043040; Note=No experimental confirmation available.; Name=3; IsoId=Q92526-3; Sequence=VSP_047129; 


uniprotID: O60806
geneSymbol: TBX19
name: T-box transcription factor TBX19 (T-box protein 19) (T-box factor, pituitary)
length: 448
go: ENSG00000143178;
snps: rs74315377
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer sequence-specific DNA binding [GO:0001158]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; anatomical structure morphogenesis [GO:0009653]; cell fate commitment [GO:0045165]; pituitary gland development [GO:0021983]; regulation of cell differentiation [GO:0045595]; regulation of cell proliferation [GO:0042127]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q9Y2I9
geneSymbol: TBC1D30
name: TBC1 domain family member 30
length: 924
go: ENSG00000111490;
snps: rs11615287 rs2290527 rs939875 rs2290527
sequence:

opentargets:
ciliary basal body [GO:0036064]; cilium [GO:0005929]; cytosol [GO:0005829]; 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]; negative regulation of cilium assembly [GO:1902018]; positive regulation of GTPase activity [GO:0043547]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y2I9-1; Sequence=Displayed; Name=2; IsoId=Q9Y2I9-2; Sequence=VSP_042427; Name=3; IsoId=Q9Y2I9-3; Sequence=VSP_042427, VSP_042428; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19077034}; Peripheral membrane protein {ECO:0000269|PubMed:19077034}.


uniprotID: Q8WUH2
geneSymbol: TGFBRAP1
length: 860
go: ENSG00000135966;
snps: rs2241797
name:
Transforming growth factor-beta receptor-associated protein 1 (TGF-beta receptor-associated protein 1) (TRAP-1) (TRAP1)

sequence:

opentargets:
CORVET complex [GO:0033263]; early endosome [GO:0005769]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; SMAD binding [GO:0046332]; transforming growth factor beta receptor binding [GO:0005160]; endosomal vesicle fusion [GO:0034058]; endosome to lysosome transport [GO:0008333]; intracellular protein transport [GO:0006886]; regulation of transcription, DNA-templated [GO:0006355]; signal transduction [GO:0007165]; transforming growth factor beta receptor signaling pathway [GO:0007179]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11278302}. Early endosome {ECO:0000269|PubMed:25266290}. Note=Colocalizes with TGF-beta receptors in the absence of signaling.


uniprotID: P24752
geneSymbol: ACAT1
reactome: R-HSA-70895;R-HSA-77108;R-HSA-77111;
pdb: 2F2S;2IB7;2IB8;2IB9;2IBU;2IBW;2IBY;
name: Acetyl-CoA acetyltransferase, mitochondrial (EC 2.3.1.9) (Acetoacetyl-CoA thiolase) (T2)
length: 427
go: ENSG00000075239;
drug: DB00795;
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:

opentargets:
extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; acetyl-CoA C-acetyltransferase activity [GO:0003985]; acetyl-CoA C-acyltransferase activity [GO:0003988]; carbon-carbon lyase activity [GO:0016830]; coenzyme binding [GO:0050662]; enzyme binding [GO:0019899]; ligase activity, forming carbon-carbon bonds [GO:0016885]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; acetyl-CoA biosynthetic process [GO:0006085]; acetyl-CoA catabolic process [GO:0046356]; adipose tissue development [GO:0060612]; brain development [GO:0007420]; branched-chain amino acid catabolic process [GO:0009083]; coenzyme A biosynthetic process [GO:0015937]; coenzyme A metabolic process [GO:0015936]; fatty acid beta-oxidation [GO:0006635]; isoleucine catabolic process [GO:0006550]; ketone body biosynthetic process [GO:0046951]; ketone body catabolic process [GO:0046952]; ketone body metabolic process [GO:1902224]; liver development [GO:0001889]; metanephric proximal convoluted tubule development [GO:0072229]; propionyl-CoA biosynthetic process [GO:1902860]; protein homooligomerization [GO:0051260]; response to hormone [GO:0009725]; response to organic cyclic compound [GO:0014070]; response to starvation [GO:0042594]

snps:
rs3741056 rs120074145 rs762991875 rs148639841 rs120074141 rs886041122 rs120074146 rs120074147 rs120074143 rs120074140 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P24752-1; Sequence=Displayed; Name=2; IsoId=P24752-2; Sequence=VSP_056844, VSP_056845; Note=No experimental confirmation available.; 


uniprotID: P09110
geneSymbol: ACAA1
reactome: R-HSA-2046106;R-HSA-390247;R-HSA-6798695;R-HSA-9033241;R-HSA-9033500;
pdb: 2IIK;
length: 424
go: ENSG00000060971;
drug: DB09069;
snps: rs156265 rs2229528
location: SUBCELLULAR LOCATION: Peroxisome.
name:
3-ketoacyl-CoA thiolase, peroxisomal (EC 2.3.1.16) (Acetyl-CoA acyltransferase) (Beta-ketothiolase) (Peroxisomal 3-oxoacyl-CoA thiolase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; specific granule lumen [GO:0035580]; acetate CoA-transferase activity [GO:0008775]; acetyl-CoA C-acyltransferase activity [GO:0003988]; palmitoyl-CoA oxidase activity [GO:0016401]; alpha-linolenic acid metabolic process [GO:0036109]; bile acid metabolic process [GO:0008206]; fatty acid beta-oxidation [GO:0006635]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; neutrophil degranulation [GO:0043312]; phenylacetate catabolic process [GO:0010124]; protein targeting to peroxisome [GO:0006625]; very long-chain fatty acid metabolic process [GO:0000038]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P09110-1; Sequence=Displayed; Name=2; IsoId=P09110-2; Sequence=VSP_046195, VSP_046196; Note=No experimental confirmation available.; 


uniprotID: Q99757
geneSymbol: TXN2
reactome: R-HSA-1614558;R-HSA-3299685;
pdb: 1UVZ;1W4V;1W89;
name: Thioredoxin, mitochondrial (MTRX) (Mt-Trx) (Thioredoxin-2)
length: 166
go: ENSG00000100348;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12032145, ECO:0000269|PubMed:12080052}.
sequence:
MAQRLLLRRFLASVISRKPSQGQWPPLTSRALQTPQCSPGGLTVTPNPARTIYTTRISLTTFNIQDGPDFQDRVVNSETPVVVDFHAQWCGPCKILGPRLEKMVAKQHGKVVMAKVDIDDHTDLAIEYEVSAVPTVLAMKNGDVVDKFVGIKDEDQLEAFLKKLIG

opentargets:
dendrite [GO:0030425]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; nucleolus [GO:0005730]; peptide-methionine (R)-S-oxide reductase activity [GO:0033743]; peptide-methionine (S)-S-oxide reductase activity [GO:0008113]; protein disulfide oxidoreductase activity [GO:0015035]; protein-containing complex binding [GO:0044877]; cell redox homeostasis [GO:0045454]; cellular response to nutrient levels [GO:0031669]; glycerol ether metabolic process [GO:0006662]; response to axon injury [GO:0048678]; response to drug [GO:0042493]; response to glucose [GO:0009749]; response to hormone [GO:0009725]; response to hypoxia [GO:0001666]; response to organic cyclic compound [GO:0014070]; response to oxidative stress [GO:0006979]; sulfur amino acid catabolic process [GO:0000098]


uniprotID: Q8IYQ7
geneSymbol: THNSL1
name: Threonine synthase-like 1 (TSH1)
length: 743
go: ENSG00000185875;
drug: DB00156;DB00114;
snps: rs35827877 rs41279890 rs34929144 rs41279894
sequence:


uniprotID: Q86YJ6
geneSymbol: THNSL2
length: 484
go: ENSG00000144115;
snps: rs4129190 rs35541720 rs34136143 rs17855905
name:
Threonine synthase-like 2 (TSH2) (EC 4.2.3.-) (Secreted osteoclastogenic factor of activated T-cells) (SOFAT)

sequence:

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; lyase activity [GO:0016829]; pyridoxal phosphate binding [GO:0030170]; serine binding [GO:0070905]; 2-oxobutyrate biosynthetic process [GO:0046360]; dephosphorylation [GO:0016311]; serine family amino acid catabolic process [GO:0009071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q86YJ6-1; Sequence=Displayed; Name=2; IsoId=Q86YJ6-2; Sequence=VSP_028469; Note=No experimental confirmation available.; Name=3; IsoId=Q86YJ6-3; Sequence=VSP_028470; Note=No experimental confirmation available.; Name=4; IsoId=Q86YJ6-4; Sequence=VSP_028468; Note=No experimental confirmation available.; Name=SOFAT; IsoId=Q86YJ6-5; Sequence=VSP_041659, VSP_041660; 

location:
SUBCELLULAR LOCATION: Isoform SOFAT: Secreted. Note=Secreted by activated T-cells via a calcineurin-independent pathway.


uniprotID: P36897
geneSymbol: TGFBR1
length: 503
go: ENSG00000106799;
drug: DB07267;DB03921;DB08450;DB07152;DB04434;
reactome:
R-HSA-2173788;R-HSA-2173789;R-HSA-2173791;R-HSA-3304356;R-HSA-3315487;R-HSA-3645790;R-HSA-3656532;R-HSA-3656535;R-HSA-5689603;R-HSA-5689880;

pdb:
1B6C;1IAS;1PY5;1RW8;1TBI;1VJY;2L5S;2PJY;2WOT;2WOU;2X7O;3FAA;3GXL;3HMM;3KCF;3KFD;3TZM;4X0M;4X2F;4X2G;4X2J;4X2K;4X2N;5E8S;5E8T;5E8U;5E8W;5E8X;5E8Z;5E90;5FRI;5USQ;6B8Y;

name:
TGF-beta receptor type-1 (TGFR-1) (EC 2.7.11.30) (Activin A receptor type II-like protein kinase of 53kD) (Activin receptor-like kinase 5) (ALK-5) (ALK5) (Serine/threonine-protein kinase receptor R4) (SKR4) (TGF-beta type I receptor) (Transforming growth factor-beta receptor type I) (TGF-beta receptor type I) (TbetaR-I)

sequence:

opentargets:
activin receptor complex [GO:0048179]; bicellular tight junction [GO:0005923]; cell [GO:0005623]; cell surface [GO:0009986]; endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; transforming growth factor beta receptor complex [GO:0070022]; activin binding [GO:0048185]; ATP binding [GO:0005524]; growth factor binding [GO:0019838]; I-SMAD binding [GO:0070411]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; SMAD binding [GO:0046332]; transforming growth factor beta binding [GO:0050431]; transforming growth factor beta receptor activity, type I [GO:0005025]; transforming growth factor beta-activated receptor activity [GO:0005024]; type II transforming growth factor beta receptor binding [GO:0005114]; activation of MAPKK activity [GO:0000186]; activin receptor signaling pathway [GO:0032924]; angiogenesis involved in coronary vascular morphogenesis [GO:0060978]; anterior/posterior pattern specification [GO:0009952]; apoptotic process [GO:0006915]; artery morphogenesis [GO:0048844]; blastocyst development [GO:0001824]; cardiac epithelial to mesenchymal transition [GO:0060317]; cell cycle arrest [GO:0007050]; cell motility [GO:0048870]; cellular response to transforming growth factor beta stimulus [GO:0071560]; collagen fibril organization [GO:0030199]; coronary artery morphogenesis [GO:0060982]; embryonic cranial skeleton morphogenesis [GO:0048701]; endothelial cell activation [GO:0042118]; endothelial cell migration [GO:0043542]; epicardium morphogenesis [GO:1905223]; epithelial to mesenchymal transition [GO:0001837]; extracellular structure organization [GO:0043062]; germ cell migration [GO:0008354]; heart development [GO:0007507]; in utero embryonic development [GO:0001701]; intracellular signal transduction [GO:0035556]; kidney development [GO:0001822]; lens development in camera-type eye [GO:0002088]; male gonad development [GO:0008584]; mesenchymal cell differentiation [GO:0048762]; negative regulation of chondrocyte differentiation [GO:0032331]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; neuron fate commitment [GO:0048663]; parathyroid gland development [GO:0060017]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; pattern specification process [GO:0007389]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; pharyngeal system development [GO:0060037]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular component movement [GO:0051272]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation [GO:1905007]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of gene expression [GO:0010628]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of SMAD protein signal transduction [GO:0060391]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of tight junction disassembly [GO:1905075]; positive regulation of transcription, DNA-templated [GO:0045893]; post-embryonic development [GO:0009791]; protein deubiquitination [GO:0016579]; protein phosphorylation [GO:0006468]; regulation of cardiac muscle cell proliferation [GO:0060043]; regulation of epithelial to mesenchymal transition [GO:0010717]; regulation of gene expression [GO:0010468]; regulation of protein binding [GO:0043393]; regulation of protein ubiquitination [GO:0031396]; regulation of transcription, DNA-templated [GO:0006355]; response to cholesterol [GO:0070723]; roof of mouth development [GO:0060021]; signal transduction [GO:0007165]; skeletal system development [GO:0001501]; skeletal system morphogenesis [GO:0048705]; thymus development [GO:0048538]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ventricular compact myocardium morphogenesis [GO:0003223]; ventricular septum morphogenesis [GO:0060412]; ventricular trabecula myocardium morphogenesis [GO:0003222]; wound healing [GO:0042060]

snps:
rs387906696 rs587776865 rs757374917 rs148176750 rs56014374 rs121918712 rs111854391 rs35974499 rs121918710 rs121918711 rs113605875 rs113605875 rs111426349 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P36897-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P36897-2; Sequence=VSP_041326; Name=3; IsoId=P36897-3; Sequence=VSP_041327; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25893292, ECO:0000269|PubMed:9472030}; Single-pass type I membrane protein {ECO:0000269|PubMed:9472030}. Cell junction, tight junction {ECO:0000269|PubMed:15761148}. Cell surface {ECO:0000269|PubMed:25893292}. Membrane raft {ECO:0000269|PubMed:25893292}.


uniprotID: Q9BTW9
geneSymbol: TBCD
reactome: R-HSA-389977;
name: Tubulin-specific chaperone D (Beta-tubulin cofactor D) (tfcD) (SSD-1) (Tubulin-folding cofactor D)
length: 1192
go: ENSG00000141556;
sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; lateral plasma membrane [GO:0016328]; microtubule [GO:0005874]; beta-tubulin binding [GO:0048487]; chaperone binding [GO:0051087]; GTPase activator activity [GO:0005096]; adherens junction assembly [GO:0034333]; bicellular tight junction assembly [GO:0070830]; cell morphogenesis involved in neuron differentiation [GO:0048667]; microtubule cytoskeleton organization [GO:0000226]; mitotic cell cycle [GO:0000278]; negative regulation of cell-substrate adhesion [GO:0010812]; negative regulation of microtubule polymerization [GO:0031115]; post-chaperonin tubulin folding pathway [GO:0007023]; protein folding [GO:0006457]; tubulin complex assembly [GO:0007021]

snps:
rs778417127 rs953299085 rs764085684 rs886041086 rs775014444 rs2292971 rs749225304 rs181969865 rs886041085 rs3214033 rs886041087 rs8072406 rs867484272 rs764003906 rs755177846 rs2292969 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BTW9-1; Sequence=Displayed; Name=2; IsoId=Q9BTW9-2; Sequence=VSP_017210; Note=No experimental confirmation available.; Name=3; IsoId=Q9BTW9-3; Sequence=VSP_017211, VSP_017215, VSP_017213, VSP_017214; Name=4; IsoId=Q9BTW9-4; Sequence=VSP_017217, VSP_017218; Note=No experimental confirmation available.; Name=5; IsoId=Q9BTW9-5; Sequence=VSP_017212, VSP_017216; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250|UniProtKB:Q28205}. Lateral cell membrane {ECO:0000250|UniProtKB:Q28205}. Cytoplasm {ECO:0000250|UniProtKB:Q28205}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q28205}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:27666370}. Note=Localized in cell-cell contacts. {ECO:0000250|UniProtKB:Q28205}.


uniprotID: Q13569
geneSymbol: TDG
reactome: R-HSA-110328;R-HSA-110329;R-HSA-110357;R-HSA-3108214;R-HSA-5221030;
pdb: 1WYW;2D07;2RBA;3UFJ;3UO7;3UOB;4FNC;4JGC;4XEG;4Z3A;4Z47;4Z7B;4Z7Z;5CYS;5FF8;5HF7;5JXY;5T2W;
name: G/T mismatch-specific thymine DNA glycosylase (EC 3.2.2.29) (Thymine-DNA glycosylase) (hTDG)
length: 410
go: ENSG00000139372;
snps: rs4135113 rs2888805 rs2888805 rs3953597
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8662714}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; PML body [GO:0016605]; ATP binding [GO:0005524]; chloride ion binding [GO:0031404]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; DNA N-glycosylase activity [GO:0019104]; double-stranded DNA binding [GO:0003690]; G/U mismatch-specific uracil-DNA glycosylase activity [GO:0043739]; magnesium ion binding [GO:0000287]; mismatched DNA binding [GO:0030983]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; protein kinase C binding [GO:0005080]; protein self-association [GO:0043621]; pyrimidine-specific mismatch base pair DNA N-glycosylase activity [GO:0008263]; sodium ion binding [GO:0031402]; SUMO binding [GO:0032183]; transcription coregulator activity [GO:0003712]; transcription factor binding [GO:0008134]; uracil DNA N-glycosylase activity [GO:0004844]; base-excision repair [GO:0006284]; base-excision repair, AP site formation [GO:0006285]; chromatin organization [GO:0006325]; depyrimidination [GO:0045008]; DNA demethylation [GO:0080111]; mismatch repair [GO:0006298]; negative regulation of chromatin binding [GO:0035562]; negative regulation of protein binding [GO:0032091]; negative regulation of transcription by RNA polymerase II [GO:0000122]; oxidative DNA demethylation [GO:0035511]; regulation of DNA N-glycosylase activity [GO:1902544]; regulation of embryonic development [GO:0045995]; regulation of gene expression, epigenetic [GO:0040029]


uniprotID: Q13428
geneSymbol: TCOF1
name: Treacle protein (Treacher Collins syndrome protein)
length: 1488
go: ENSG00000070814;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12777385}.
sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleolus [GO:0005730]; nucleus [GO:0005634]; protein heterodimerization activity [GO:0046982]; RNA binding [GO:0003723]; RNA polymerase I core binding [GO:0001042]; scaffold protein binding [GO:0097110]; transporter activity [GO:0005215]; neural crest cell development [GO:0014032]; neural crest formation [GO:0014029]; regulation of translation [GO:0006417]; skeletal system development [GO:0001501]

snps:
rs11541811 rs138645438 rs2071240 rs7713638 rs1206146416 rs1136103 rs11541812 rs15251 rs45491898 rs151344580 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q13428-1; Sequence=Displayed; Note=Major.; Name=2; IsoId=Q13428-2; Sequence=VSP_022295; Name=3; IsoId=Q13428-3; Sequence=VSP_022297; Name=4; IsoId=Q13428-4; Sequence=VSP_022296; Note=Minor.; Name=5; IsoId=Q13428-5; Sequence=VSP_023133, VSP_023134; Note=No experimental confirmation available.; Name=6; IsoId=Q13428-6; Sequence=VSP_040382; Name=7; IsoId=Q13428-7; Sequence=VSP_040382, VSP_022297; Name=8; IsoId=Q13428-8; Sequence=VSP_022295, VSP_022297; Note=No experimental confirmation available.; 


uniprotID: O60343
geneSymbol: TBC1D4
reactome: R-HSA-1445148;
pdb: 3QYB;
name: TBC1 domain family member 4 (Akt substrate of 160 kDa) (AS160)
length: 1298
go: ENSG00000136111;
snps: rs56223054 rs1062087 rs58232698 rs9600455 rs557337 rs11616741
sequence:

opentargets:
cytosol [GO:0005829]; vesicle [GO:0031982]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; cellular response to insulin stimulus [GO:0032869]; intracellular protein transport [GO:0006886]; negative regulation of vesicle fusion [GO:0031339]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O60343-1; Sequence=Displayed; Name=2; Synonyms=AS160_tv2; IsoId=O60343-2; Sequence=VSP_036869; Name=3; Synonyms=AS160_tv3; IsoId=O60343-3; Sequence=VSP_036870; Name=4; IsoId=O60343-4; Sequence=VSP_036868, VSP_036871; Note=No experimental confirmation available.; Name=5; IsoId=O60343-5; Sequence=VSP_036868; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18771725}. Note=Isoform 2 shows a cytoplasmic perinuclear localization in a myoblastic cell line in resting and insulin-stimulated cells.


uniprotID: P61812
geneSymbol: TGFB2
reactome: R-HSA-114608;R-HSA-2129379;R-HSA-3000178;
pdb: 1TFG;2TGI;4KXZ;5TX4;5TY4;
length: 414
go: ENSG00000092969;
snps: rs10482721 rs10482810 rs863223792 rs869312903 rs387907278
name:
Transforming growth factor beta-2 proprotein (Cetermin) (Glioblastoma-derived T-cell suppressor factor) (G-TSF) [Cleaved into: Latency-associated peptide (LAP); Transforming growth factor beta-2 (TGF-beta-2)]

sequence:

opentargets:
axon [GO:0030424]; collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; neuronal cell body [GO:0043025]; platelet alpha granule lumen [GO:0031093]; amyloid-beta binding [GO:0001540]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; transforming growth factor beta receptor binding [GO:0005160]; type II transforming growth factor beta receptor binding [GO:0005114]; type III transforming growth factor beta receptor binding [GO:0034714]; activation of protein kinase activity [GO:0032147]; angiogenesis [GO:0001525]; ascending aorta morphogenesis [GO:0035910]; atrial septum morphogenesis [GO:0060413]; atrial septum primum morphogenesis [GO:0003289]; atrioventricular valve morphogenesis [GO:0003181]; cardiac epithelial to mesenchymal transition [GO:0060317]; cardiac muscle cell proliferation [GO:0060038]; cardiac right ventricle morphogenesis [GO:0003215]; cardioblast differentiation [GO:0010002]; cell cycle arrest [GO:0007050]; cell death [GO:0008219]; cell development [GO:0048468]; cell migration [GO:0016477]; cell morphogenesis [GO:0000902]; cell proliferation [GO:0008283]; cell-cell junction organization [GO:0045216]; cell-cell signaling [GO:0007267]; collagen fibril organization [GO:0030199]; cranial skeletal system development [GO:1904888]; dopamine biosynthetic process [GO:0042416]; embryo development ending in birth or egg hatching [GO:0009792]; embryonic digestive tract development [GO:0048566]; embryonic limb morphogenesis [GO:0030326]; endocardial cushion fusion [GO:0003274]; endocardial cushion morphogenesis [GO:0003203]; epithelial to mesenchymal transition [GO:0001837]; extrinsic apoptotic signaling pathway [GO:0097191]; eye development [GO:0001654]; generation of neurons [GO:0048699]; glial cell migration [GO:0008347]; hair follicle development [GO:0001942]; hair follicle morphogenesis [GO:0031069]; heart development [GO:0007507]; heart morphogenesis [GO:0003007]; heart valve morphogenesis [GO:0003179]; hemopoiesis [GO:0030097]; inner ear development [GO:0048839]; kidney development [GO:0001822]; male gonad development [GO:0008584]; membranous septum morphogenesis [GO:0003149]; negative regulation of alkaline phosphatase activity [GO:0010693]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation [GO:1905006]; negative regulation of gene expression [GO:0010629]; negative regulation of immune response [GO:0050777]; negative regulation of macrophage cytokine production [GO:0010936]; negative regulation of Ras protein signal transduction [GO:0046580]; neural retina development [GO:0003407]; neural tube closure [GO:0001843]; neuron development [GO:0048666]; neutrophil chemotaxis [GO:0030593]; odontogenesis [GO:0042476]; outflow tract septum morphogenesis [GO:0003148]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; pharyngeal arch artery morphogenesis [GO:0061626]; platelet degranulation [GO:0002576]; positive regulation of cardioblast differentiation [GO:0051891]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell division [GO:0051781]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation [GO:1905007]; positive regulation of heart contraction [GO:0045823]; positive regulation of immune response [GO:0050778]; positive regulation of integrin biosynthetic process [GO:0045726]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of ossification [GO:0045778]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of protein secretion [GO:0050714]; positive regulation of stress-activated MAPK cascade [GO:0032874]; positive regulation of timing of catagen [GO:0051795]; protein phosphorylation [GO:0006468]; pulmonary valve morphogenesis [GO:0003184]; regulation of apoptotic process [GO:0042981]; regulation of apoptotic process involved in outflow tract morphogenesis [GO:1902256]; regulation of cell proliferation [GO:0042127]; regulation of MAPK cascade [GO:0043408]; regulation of timing of catagen [GO:0051794]; regulation of transforming growth factor beta2 production [GO:0032909]; response to drug [GO:0042493]; response to hypoxia [GO:0001666]; response to progesterone [GO:0032570]; response to wounding [GO:0009611]; salivary gland morphogenesis [GO:0007435]; secondary palate development [GO:0062009]; skeletal system development [GO:0001501]; SMAD protein signal transduction [GO:0060395]; somatic stem cell division [GO:0048103]; substantia propria of cornea development [GO:1903701]; transforming growth factor beta receptor signaling pathway [GO:0007179]; uterine wall breakdown [GO:0042704]; uterus development [GO:0060065]; ventricular septum morphogenesis [GO:0060412]; ventricular trabecula myocardium morphogenesis [GO:0003222]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=P61812-1, P08112-1; Sequence=Displayed; Name=B; IsoId=P61812-2, P08112-2; Sequence=VSP_006417; 

location:
SUBCELLULAR LOCATION: Latency-associated peptide: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:P01137}.; SUBCELLULAR LOCATION: Transforming growth factor beta-2: Secreted {ECO:0000250|UniProtKB:P01137}.


uniprotID: Q9H4B7
geneSymbol: TUBB1
name: Tubulin beta-1 chain
length: 451
go: ENSG00000101162;
drug: DB06772;DB01394;DB05147;DB01248;DB04940;DB03010;DB01873;DB01229;DB00309;DB06042;
snps: rs415064 rs463312 rs35565630 rs6070697 rs121918555
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:18849486}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; 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]; spindle assembly [GO:0051225]


uniprotID: Q15560
geneSymbol: TCEA2
pdb: 2LW4;
length: 299
go: ENSG00000171703;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcription elongation factor A protein 2 (Testis-specific S-II) (Transcription elongation factor S-II protein 2) (Transcription elongation factor TFIIS.l)

sequence:

opentargets:
transcription elongation factor complex [GO:0008023]; DNA binding [GO:0003677]; zinc ion binding [GO:0008270]; DNA-templated transcription, elongation [GO:0006354]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of DNA-templated transcription, elongation [GO:0032784]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15560-1; Sequence=Displayed; Name=2; IsoId=Q15560-2; Sequence=VSP_047345; Note=No experimental confirmation available.; 


uniprotID: Q96IP4
geneSymbol: TENT5A
length: 442
go: ENSG00000112773;
name:
Terminal nucleotidyltransferase 5A (EC 2.7.7.-) (HBV X-transactivated gene 11 protein) (HBV XAg-transactivated protein 11)

sequence:

opentargets:
RNA adenylyltransferase activity [GO:1990817]; RNA binding [GO:0003723]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IP4-1; Sequence=Displayed; Name=2; IsoId=Q96IP4-2; Sequence=VSP_035502; 


uniprotID: Q9UL17
geneSymbol: TBX21
length: 535
go: ENSG00000073861;
snps: rs2240017 rs12721471
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24845384}.
name:
T-box transcription factor TBX21 (T-box protein 21) (T-cell-specific T-box transcription factor T-bet) (Transcription factor TBLYM)

sequence:

opentargets:
neuronal cell body [GO:0043025]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; cellular response to organic substance [GO:0071310]; lymphocyte migration [GO:0072676]; multicellular organism development [GO:0007275]; negative regulation of interleukin-2 production [GO:0032703]; negative regulation of T-helper 17 cell differentiation [GO:2000320]; negative regulation of T-helper 17 cell lineage commitment [GO:2000329]; negative regulation of T-helper 2 cell cytokine production [GO:2000552]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of isotype switching to IgG isotypes [GO:0048304]; positive regulation of transcription, DNA-templated [GO:0045893]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; regulation of T cell differentiation [GO:0045580]; regulation of transcription, DNA-templated [GO:0006355]; response to virus [GO:0009615]; T cell differentiation [GO:0030217]


uniprotID: Q9UJT1
geneSymbol: TUBD1
name: Tubulin delta chain (Delta-tubulin)
length: 453
go: ENSG00000108423;
drug: DB00570;
snps: rs1292053
sequence:

opentargets:
centriole [GO:0005814]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule [GO:0005874]; nucleoplasm [GO:0005654]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; structural constituent of cytoskeleton [GO:0005200]; cell projection organization [GO:0030030]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]; multicellular organism development [GO:0007275]; positive regulation of smoothened signaling pathway [GO:0045880]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9UJT1-1; Sequence=Displayed; Name=2; IsoId=Q9UJT1-2; Sequence=VSP_006681; Name=3; IsoId=Q9UJT1-3; Sequence=VSP_006680; Name=4; IsoId=Q9UJT1-4; Sequence=VSP_045196; Note=No experimental confirmation available.; Name=5; IsoId=Q9UJT1-5; Sequence=VSP_046950; Note=No experimental confirmation available.; Name=6; IsoId=Q9UJT1-6; Sequence=VSP_046949; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9R1K7}. Cytoplasm {ECO:0000250|UniProtKB:Q9R1K7}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:Q9R1K7}. Cell projection, cilium {ECO:0000250|UniProtKB:Q9R1K7}. Note=Associated with centrioles. Both cytoplasmic and nuclear. In the elongating spermatid it is associated with the manchette, a specialized microtubule system present during reshaping of the sperm head. {ECO:0000250|UniProtKB:Q9R1K7}.


uniprotID: Q03403
geneSymbol: TFF2
name: Trefoil factor 2 (Spasmolysin) (Spasmolytic polypeptide) (SP)
length: 129
go: ENSG00000160181;
drug: DB03088;
snps: rs7277409
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MGRRDAQLLAALLVLGLCALAGSEKPSPCQCSRLSPHNRTNCGFPGITSDQCFDNGCCFDSSVTGVPWCFHPLPKQESDQCVMEVSDRRNCGYPGISPEECASRKCCFSNFIFEVPWCFFPKSVEDCHY

opentargets:
extracellular space [GO:0005615]; CXCR4 chemokine receptor binding [GO:0031723]; chemokine-mediated signaling pathway [GO:0070098]; maintenance of gastrointestinal epithelium [GO:0030277]; negative regulation of gastric acid secretion [GO:0060455]


uniprotID: P52888
geneSymbol: THOP1
reactome: R-HSA-983168;
pdb: 1S4B;2O36;
name: Thimet oligopeptidase (EC 3.4.24.15) (Endopeptidase 24.15) (MP78)
length: 689
go: ENSG00000172009;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial intermembrane space [GO:0005758]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; peptide binding [GO:0042277]; peptide metabolic process [GO:0006518]; protein polyubiquitination [GO:0000209]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P52888-1; Sequence=Displayed; Name=2; IsoId=P52888-2; Sequence=VSP_056494, VSP_056495; Note=No experimental confirmation available.; 


uniprotID: P10600
geneSymbol: TGFB3
reactome: R-HSA-114608;R-HSA-2129379;R-HSA-3000178;
pdb: 1KTZ;1TGJ;1TGK;2PJY;3EO1;4UM9;
length: 412
go: ENSG00000119699;
snps: rs4252315 rs398122984
name:
Transforming growth factor beta-3 proprotein [Cleaved into: Latency-associated peptide (LAP); Transforming growth factor beta-3 (TGF-beta-3)]

sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; platelet alpha granule lumen [GO:0031093]; T-tubule [GO:0030315]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; transforming growth factor beta binding [GO:0050431]; transforming growth factor beta receptor binding [GO:0005160]; type I transforming growth factor beta receptor binding [GO:0034713]; type II transforming growth factor beta receptor binding [GO:0005114]; type III transforming growth factor beta receptor binding [GO:0034714]; activation of MAPK activity [GO:0000187]; aging [GO:0007568]; cell development [GO:0048468]; cell-cell junction organization [GO:0045216]; detection of hypoxia [GO:0070483]; digestive tract development [GO:0048565]; embryonic neurocranium morphogenesis [GO:0048702]; face morphogenesis [GO:0060325]; female pregnancy [GO:0007565]; frontal suture morphogenesis [GO:0060364]; in utero embryonic development [GO:0001701]; inner ear development [GO:0048839]; lung alveolus development [GO:0048286]; mammary gland development [GO:0030879]; negative regulation of cell proliferation [GO:0008285]; negative regulation of macrophage cytokine production [GO:0010936]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; odontogenesis [GO:0042476]; ossification involved in bone remodeling [GO:0043932]; platelet degranulation [GO:0002576]; positive regulation of apoptotic process [GO:0043065]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of protein secretion [GO:0050714]; positive regulation of SMAD protein signal transduction [GO:0060391]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of tight junction disassembly [GO:1905075]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of apoptotic process [GO:0042981]; regulation of cell proliferation [GO:0042127]; regulation of MAPK cascade [GO:0043408]; response to estrogen [GO:0043627]; response to hypoxia [GO:0001666]; response to laminar fluid shear stress [GO:0034616]; response to progesterone [GO:0032570]; salivary gland morphogenesis [GO:0007435]; secondary palate development [GO:0062009]; SMAD protein signal transduction [GO:0060395]; transforming growth factor beta receptor signaling pathway [GO:0007179]; uterine wall breakdown [GO:0042704]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P10600-1; Sequence=Displayed; Name=2; IsoId=P10600-2; Sequence=VSP_056285; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Latency-associated peptide: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:P01137}.; SUBCELLULAR LOCATION: Transforming growth factor beta-3: Secreted {ECO:0000250|UniProtKB:P01137}.


uniprotID: O43294
geneSymbol: TGFB1I1
length: 461
go: ENSG00000140682;
snps: rs45475699
name:
Transforming growth factor beta-1-induced transcript 1 protein (Androgen receptor coactivator 55 kDa protein) (Androgen receptor-associated protein of 55 kDa) (Hydrogen peroxide-inducible clone 5 protein) (Hic-5)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; focal adhesion [GO:0005925]; intracellular [GO:0005622]; nuclear matrix [GO:0016363]; androgen receptor binding [GO:0050681]; I-SMAD binding [GO:0070411]; metal ion binding [GO:0046872]; Roundabout binding [GO:0048495]; transcription coactivator activity [GO:0003713]; androgen receptor signaling pathway [GO:0030521]; cell adhesion [GO:0007155]; cell fate commitment [GO:0045165]; epithelial cell differentiation [GO:0030855]; morphogenesis of embryonic epithelium [GO:0016331]; negative regulation of cell proliferation [GO:0008285]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; response to heat [GO:0009408]; transcription by RNA polymerase II [GO:0006366]; ubiquitin-dependent SMAD protein catabolic process [GO:0030579]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43294-1; Sequence=Displayed; Name=2; IsoId=O43294-2; Sequence=VSP_026183; 

location:
SUBCELLULAR LOCATION: Cell junction, focal adhesion. Nucleus matrix. Cytoplasm, cytoskeleton. Note=Associated with the actin cytoskeleton; colocalizes with stress fibers.


uniprotID: Q8WW35
geneSymbol: TCTEX1D2
reactome: R-HSA-5620924;
name: Tctex1 domain-containing protein 2
length: 142
go: ENSG00000213123;
sequence:
MATSIGVSFSVGDGVPEAEKNAGEPENTYILRPVFQQRFRPSVVKDCIHAVLKEELANAEYSPEEMPQLTKHLSENIKDKLKEMGFDRYKMVVQVVIGEQRGEGVFMASRCFWDADTDNYTHDVFMNDSLFCVVAAFGCFYY

opentargets:
cytoplasmic dynein complex [GO:0005868]; dynein intermediate chain binding [GO:0045505]; cilium assembly [GO:0060271]; regulation of cilium assembly [GO:1902017]; regulation of intraciliary retrograde transport [GO:1905799]


uniprotID: P57082
geneSymbol: TBX4
name: T-box transcription factor TBX4 (T-box protein 4)
length: 545
go: ENSG00000121075;
snps: rs3744448 rs148424252 rs28938474 rs3744438 rs28936696
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; angiogenesis [GO:0001525]; embryonic limb morphogenesis [GO:0030326]; limb morphogenesis [GO:0035108]; lung development [GO:0030324]; morphogenesis of an epithelium [GO:0002009]; multicellular organism development [GO:0007275]; regulation of transcription, DNA-templated [GO:0006355]; skeletal system morphogenesis [GO:0048705]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P57082-1; Sequence=Displayed; Name=2; IsoId=P57082-2; Sequence=VSP_054002; Note=No experimental confirmation available.; 


uniprotID: Q6IPX3
geneSymbol: TCEAL6
length: 200
go: ENSG00000204071;
opentargets: nucleus [GO:0005634]; WW domain binding [GO:0050699]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Transcription elongation factor A protein-like 6 (TCEA-like protein 6) (Transcription elongation factor S-II protein-like 6)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IPX3-1; Sequence=Displayed; Name=2; IsoId=Q6IPX3-2; Sequence=VSP_019110; Note=No experimental confirmation available.; 


uniprotID: Q6N021
geneSymbol: TET2
reactome: R-HSA-5221030;
pdb: 4NM6;5D9Y;5DEU;
name: Methylcytosine dioxygenase TET2 (EC 1.14.11.n2)
length: 2002
go: ENSG00000168769;
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; ferrous iron binding [GO:0008198]; iron ion binding [GO:0005506]; methylcytosine dioxygenase activity [GO:0070579]; zinc ion binding [GO:0008270]; 5-methylcytosine catabolic process [GO:0006211]; cell cycle [GO:0007049]; DNA demethylation [GO:0080111]; histone H3-K4 trimethylation [GO:0080182]; myeloid cell differentiation [GO:0030099]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein O-linked glycosylation [GO:0006493]; response to organic cyclic compound [GO:0014070]

snps:
rs12498609 rs111948941 rs773565437 rs114619974 rs146031219 rs6843141 rs61744960 rs17253672 rs201642693 rs376570662 rs753786455 rs144386291 rs4145756 rs34485921 rs532738858 rs778464072 rs75056899 rs769422572 rs761811530 rs898441677 rs771761785 rs749210253 rs62623390 rs142312318 rs34402524 rs146348065 rs2454206 rs62621450 rs116519313 rs767475870 rs200971953 rs754215085 rs1406914931 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6N021-1; Sequence=Displayed; Name=2; IsoId=Q6N021-2; Sequence=VSP_032283, VSP_032284; Name=3; IsoId=Q6N021-3; Sequence=VSP_032282, VSP_032285; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q15554
geneSymbol: TERF2
reactome: R-HSA-1221632;R-HSA-171306;R-HSA-2559586;
pdb: 1H6P;1VF9;1VFC;1W0U;1XG1;3BU8;3BUA;3K6G;3SJM;4M7C;4RQI;5WQD;5XYF;
name: Telomeric repeat-binding factor 2 (TTAGGG repeat-binding factor 2) (Telomeric DNA-binding protein)
length: 542
go: ENSG00000132604;
snps: rs35874485
sequence:

opentargets:
axon cytoplasm [GO:1904115]; chromosome, telomeric region [GO:0000781]; nuclear body [GO:0016604]; nuclear chromosome, telomeric region [GO:0000784]; nuclear telomere cap complex [GO:0000783]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; shelterin complex [GO:0070187]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded telomeric DNA binding [GO:0003691]; enzyme binding [GO:0019899]; G-rich strand telomeric DNA binding [GO:0098505]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; telomeric DNA binding [GO:0042162]; anterograde axonal transport of messenger ribonucleoprotein complex [GO:0099087]; cell cycle [GO:0007049]; cellular senescence [GO:0090398]; negative regulation of beta-galactosidase activity [GO:1903770]; negative regulation of cellular senescence [GO:2000773]; negative regulation of exonuclease activity [GO:1905778]; negative regulation of gene expression [GO:0010629]; negative regulation of t-circle formation [GO:1904430]; negative regulation of telomere capping [GO:1904354]; negative regulation of telomere maintenance [GO:0032205]; negative regulation of telomere maintenance via recombination [GO:0032208]; negative regulation of telomere maintenance via semi-conservative replication [GO:0032214]; negative regulation of telomere maintenance via telomerase [GO:0032211]; negative regulation of telomere maintenance via telomere lengthening [GO:1904357]; negative regulation of telomere single strand break repair [GO:1903824]; negative regulation of telomeric D-loop disassembly [GO:1905839]; positive regulation of gene expression [GO:0010628]; positive regulation of nitric-oxide synthase activity [GO:0051000]; protection from non-homologous end joining at telomere [GO:0031848]; protein localization to chromosome, telomeric region [GO:0070198]; regulation of telomere maintenance [GO:0032204]; regulation of telomere maintenance via telomerase [GO:0032210]; RNA-dependent DNA biosynthetic process [GO:0006278]; telomere capping [GO:0016233]; telomere maintenance [GO:0000723]; telomeric D-loop disassembly [GO:0061820]; telomeric loop formation [GO:0031627]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15554-3; Sequence=Displayed; Name=2; IsoId=Q15554-4; Sequence=VSP_003304, VSP_003305; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00625, ECO:0000269|PubMed:20655466}. Chromosome, telomere {ECO:0000269|PubMed:20655466}. Note=Colocalizes with telomeric DNA in interphase cells and is located at chromosome ends during metaphase.


uniprotID: Q9UPU7
geneSymbol: TBC1D2B
name: TBC1 domain family member 2B
length: 963
go: ENSG00000167202;
sequence:

opentargets:
cytosol [GO:0005829]; 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=Q9UPU7-1; Sequence=Displayed; Name=2; IsoId=Q9UPU7-2; Sequence=VSP_030669; Name=3; IsoId=Q9UPU7-3; Sequence=VSP_030666, VSP_030667, VSP_030668; Note=No experimental confirmation available.; 


uniprotID: P13726
geneSymbol: F3
reactome: R-HSA-140834;
name: Tissue factor (TF) (Coagulation factor III) (Thromboplastin) (CD antigen CD142)
length: 295
go: ENSG00000117525;
drug: DB07207;DB13150;DB00036;
snps: rs3917604 rs3917627 rs5901 rs3789683
pdb:
1AHW;1BOY;1DAN;1FAK;1J9C;1JPS;1NL8;1O5D;1TFH;1UJ3;1W0Y;1W2K;1WQV;1WSS;1WTG;1WUN;1WV7;1Z6J;2A2Q;2AEI;2AER;2B7D;2B8O;2C4F;2CEF;2CEH;2CEZ;2CFJ;2EC9;2F9B;2FIR;2FLB;2FLR;2HFT;2PUQ;2ZP0;2ZWL;2ZZU;3ELA;3TH2;3TH3;3TH4;4IBL;4M7L;4YLQ;4Z6A;4ZMA;5W06;

sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; intrinsic component of external side of plasma membrane [GO:0031233]; plasma membrane [GO:0005886]; serine-type peptidase complex [GO:1905286]; phospholipid binding [GO:0005543]; protease binding [GO:0002020]; activation of blood coagulation via clotting cascade [GO:0002543]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of plasma proteins involved in acute inflammatory response [GO:0002541]; blood coagulation [GO:0007596]; blood coagulation, extrinsic pathway [GO:0007598]; cytokine-mediated signaling pathway [GO:0019221]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell migration [GO:0030335]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of platelet-derived growth factor receptor signaling pathway [GO:0010641]; positive regulation of positive chemotaxis [GO:0050927]; positive regulation of protein kinase B signaling [GO:0051897]; protein processing [GO:0016485]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms may exist.; Name=1; Synonyms=flTF; IsoId=P13726-1; Sequence=Displayed; Name=2; Synonyms=asHTF; IsoId=P13726-2; Sequence=VSP_041896, VSP_041897; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000269|PubMed:12652293}; Single-pass type I membrane protein {ECO:0000269|PubMed:12652293}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:12652293}.


uniprotID: Q92994
geneSymbol: BRF1
reactome: R-HSA-749476;R-HSA-76061;R-HSA-76066;
length: 677
go: ENSG00000185024;
snps: rs370270828 rs606231416 rs373957300 rs606231450 rs371981699
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Transcription factor IIIB 90 kDa subunit (TFIIIB90) (hTFIIIB90) (B-related factor 1) (BRF-1) (hBRF) (TAF3B2) (TATA box-binding protein-associated factor, RNA polymerase III, subunit 2)

sequence:

opentargets:
nucleoplasm [GO:0005654]; transcription factor TFIIIB complex [GO:0000126]; metal ion binding [GO:0046872]; RNA polymerase III general transcription initiation factor activity [GO:0000995]; TBP-class protein binding [GO:0017025]; positive regulation of transcription by RNA polymerase III [GO:0045945]; rRNA transcription [GO:0009303]; transcription by RNA polymerase III [GO:0006383]; transcription initiation from RNA polymerase III promoter [GO:0006384]; transcription preinitiation complex assembly [GO:0070897]; tRNA transcription [GO:0009304]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=hBRF1; IsoId=Q92994-1; Sequence=Displayed; Name=2; Synonyms=hBRF2; IsoId=Q92994-2; Sequence=VSP_006396, VSP_006397, VSP_006398; Name=3; Synonyms=hBRF3; IsoId=Q92994-3; Sequence=VSP_006396; Name=4; Synonyms=hBRF4; IsoId=Q92994-4; Sequence=VSP_006399, VSP_006400; Name=5; IsoId=Q92994-5; Sequence=VSP_014697; Name=6; IsoId=Q92994-6; Sequence=VSP_043835, VSP_043836; Name=7; IsoId=Q92994-7; Sequence=VSP_044244; Name=8; IsoId=Q92994-8; Sequence=VSP_044244, VSP_045046; Note=No experimental confirmation available.; Name=9; IsoId=Q92994-9; Sequence=VSP_045045; Note=No experimental confirmation available.; 


uniprotID: Q6I9Y2
geneSymbol: THOC7
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72187;
length: 204
go: ENSG00000163634;
name:
THO complex subunit 7 homolog (Functional spliceosome-associated protein 24) (fSAP24) (Ngg1-interacting factor 3-like protein 1-binding protein 1) (NIF3L1-binding protein 1) (hTREX30)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; 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]; 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]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12951069}. Nucleus {ECO:0000269|PubMed:12951069, ECO:0000269|PubMed:19059247}. Nucleus speckle {ECO:0000305}. Note=Interaction with THOC5 is required for nuclear localization. {ECO:0000269|PubMed:19059247}.


uniprotID: P23258
geneSymbol: TUBG1
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
pdb: 1Z5V;1Z5W;3CB2;
name: Tubulin gamma-1 chain (Gamma-1-tubulin) (Gamma-tubulin complex component 1) (GCP-1)
length: 451
go: ENSG00000131462;
drug: DB00570;
snps: rs398123046 rs398123047 rs398123045 rs13663
sequence:

opentargets:
apical part of cell [GO:0045177]; cell leading edge [GO:0031252]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; condensed nuclear chromosome [GO:0000794]; cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; gamma-tubulin complex [GO:0000930]; microtubule [GO:0005874]; non-motile cilium [GO:0097730]; nucleus [GO:0005634]; pericentriolar material [GO:0000242]; polar microtubule [GO:0005827]; recycling endosome [GO:0055037]; spindle [GO:0005819]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; structural constituent of cytoskeleton [GO:0005200]; ciliary basal body-plasma membrane docking [GO:0097711]; cytoplasmic microtubule organization [GO:0031122]; G2/M transition of mitotic cell cycle [GO:0000086]; meiotic spindle organization [GO:0000212]; microtubule cytoskeleton organization [GO:0000226]; microtubule nucleation [GO:0007020]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]; mitotic sister chromatid segregation [GO:0000070]; mitotic spindle organization [GO:0007052]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:24107630, ECO:0000269|PubMed:9566967, ECO:0000269|PubMed:9566969}.


uniprotID: Q96EI5
geneSymbol: TCEAL4
length: 215
go: ENSG00000133142;
opentargets: nucleus [GO:0005634]; WW domain binding [GO:0050699]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Transcription elongation factor A protein-like 4 (TCEA-like protein 4) (Transcription elongation factor S-II protein-like 4)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96EI5-1; Sequence=Displayed; Name=2; IsoId=Q96EI5-2; Sequence=VSP_019109; Note=No experimental confirmation available.; 


uniprotID: O43435
geneSymbol: TBX1
pdb: 4A04;
name: T-box transcription factor TBX1 (T-box protein 1) (Testis-specific T-box protein)
length: 398
go: ENSG00000184058;
snps: rs28939675 rs74315522 rs41298838 rs4819522
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; protein homodimerization activity [GO:0042803]; sequence-specific DNA binding [GO:0043565]; angiogenesis [GO:0001525]; anterior/posterior pattern specification [GO:0009952]; aorta morphogenesis [GO:0035909]; artery morphogenesis [GO:0048844]; blood vessel development [GO:0001568]; blood vessel morphogenesis [GO:0048514]; cell fate specification [GO:0001708]; cell proliferation [GO:0008283]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to retinoic acid [GO:0071300]; cochlea morphogenesis [GO:0090103]; coronary artery morphogenesis [GO:0060982]; determination of left/right symmetry [GO:0007368]; ear morphogenesis [GO:0042471]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic viscerocranium morphogenesis [GO:0048703]; enamel mineralization [GO:0070166]; epithelial cell differentiation [GO:0030855]; face morphogenesis [GO:0060325]; heart development [GO:0007507]; heart morphogenesis [GO:0003007]; inner ear morphogenesis [GO:0042472]; lymph vessel development [GO:0001945]; mesenchymal cell apoptotic process [GO:0097152]; mesoderm development [GO:0007498]; middle ear morphogenesis [GO:0042474]; muscle cell fate commitment [GO:0042693]; muscle organ development [GO:0007517]; muscle organ morphogenesis [GO:0048644]; muscle tissue morphogenesis [GO:0060415]; negative regulation of cell differentiation [GO:0045596]; negative regulation of mesenchymal cell apoptotic process [GO:2001054]; neural crest cell migration [GO:0001755]; odontogenesis of dentin-containing tooth [GO:0042475]; outer ear morphogenesis [GO:0042473]; outflow tract morphogenesis [GO:0003151]; outflow tract septum morphogenesis [GO:0003148]; parathyroid gland development [GO:0060017]; pattern specification process [GO:0007389]; pharyngeal system development [GO:0060037]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of tongue muscle cell differentiation [GO:2001037]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of animal organ morphogenesis [GO:2000027]; regulation of transcription by RNA polymerase II [GO:0006357]; retinoic acid receptor signaling pathway [GO:0048384]; semicircular canal morphogenesis [GO:0048752]; sensory perception of sound [GO:0007605]; social behavior [GO:0035176]; soft palate development [GO:0060023]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]; tongue morphogenesis [GO:0043587]; vagus nerve morphogenesis [GO:0021644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=O43435-1; Sequence=Displayed; Name=B; IsoId=O43435-2; Sequence=VSP_006383; Name=C; Synonyms=TBX1C; IsoId=O43435-3; Sequence=VSP_007423; 


uniprotID: Q99426
geneSymbol: TBCB
reactome: R-HSA-389977;
length: 244
go: ENSG00000105254;
name:
Tubulin-folding cofactor B (Cytoskeleton-associated protein 1) (Cytoskeleton-associated protein CKAPI) (Tubulin-specific chaperone B)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; cell differentiation [GO:0030154]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99426-1; Sequence=Displayed; Name=2; IsoId=Q99426-2; Sequence=VSP_055521; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15831477, ECO:0000269|PubMed:22777741}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15831477}. Note=Colocalizes with microtubules. In differentiated neurons, located in the cytoplasm. In differentiating neurons, accumulates at the growth cone. {ECO:0000269|PubMed:15831477}.


uniprotID: O43680
geneSymbol: TCF21
length: 179
go: ENSG00000118526;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcription factor 21 (TCF-21) (Capsulin) (Class A basic helix-loop-helix protein 23) (bHLHa23) (Epicardin) (Podocyte-expressed 1) (Pod-1)

sequence:
MSTGSLSDVEDLQEVEMLECDGLKMDSNKEFVTSNESTEESSNCENGSPQKGRGGLGKRRKAPTKKSPLSGVSQEGKQVQRNAANARERARMRVLSKAFSRLKTTLPWVPPDTKLSKLDTLRLASSYIAHLRQILANDKYENGYIHPVNLTWPFMVAGKPESDLKEVVTASRLCGTTAS

opentargets:
nucleus [GO:0005634]; androgen receptor binding [GO:0050681]; bHLH transcription factor binding [GO:0043425]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; histone deacetylase binding [GO:0042826]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; branching involved in ureteric bud morphogenesis [GO:0001658]; branchiomeric skeletal muscle development [GO:0014707]; bronchiole development [GO:0060435]; diaphragm development [GO:0060539]; embryonic digestive tract morphogenesis [GO:0048557]; epithelial cell differentiation [GO:0030855]; gland development [GO:0048732]; glomerulus development [GO:0032835]; kidney development [GO:0001822]; lung alveolus development [GO:0048286]; lung morphogenesis [GO:0060425]; lung vasculature development [GO:0060426]; metanephric glomerular capillary formation [GO:0072277]; metanephric mesenchymal cell differentiation [GO:0072162]; morphogenesis of a branching structure [GO:0001763]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; reproductive structure development [GO:0048608]; respiratory system development [GO:0060541]; roof of mouth development [GO:0060021]; Sertoli cell differentiation [GO:0060008]; sex determination [GO:0007530]; spleen development [GO:0048536]; ureteric bud development [GO:0001657]; vasculature development [GO:0001944]


uniprotID: Q92759
geneSymbol: GTF2H4
pdb: 5IVW;5IY6;5IY7;5IY8;5IY9;5OF4;
length: 462
go: ENSG00000213780;
snps: rs3218820
location: SUBCELLULAR LOCATION: Nucleus.
name:
General transcription factor IIH subunit 4 (Basic transcription factor 2 52 kDa subunit) (BTF2 p52) (General transcription factor IIH polypeptide 4) (TFIIH basal transcription factor complex p52 subunit)

sequence:

opentargets:
core TFIIH complex portion of holo TFIIH complex [GO:0000438]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor TFIID complex [GO:0005669]; transcription factor TFIIH core complex [GO:0000439]; transcription factor TFIIH holo complex [GO:0005675]; ATPase activator activity [GO:0001671]; DNA-binding transcription factor activity [GO:0003700]; double-stranded DNA binding [GO:0003690]; 7-methylguanosine mRNA capping [GO:0006370]; DNA repair [GO:0006281]; 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]; phosphorylation of RNA polymerase II C-terminal domain [GO:0070816]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase II [GO:0006366]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92759-1; Sequence=Displayed; Name=2; IsoId=Q92759-2; Sequence=VSP_056835, VSP_056836, VSP_056837; Note=No experimental confirmation available.; 


uniprotID: Q93075
geneSymbol: TATDN2
reactome: R-HSA-381038;
name: Putative deoxyribonuclease TATDN2 (EC 3.1.21.-)
length: 761
go: ENSG00000157014;
snps: rs2241314 rs394558 rs2075352
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; endodeoxyribonuclease activity, producing 5'-phosphomonoesters [GO:0016888]; metal ion binding [GO:0046872]; IRE1-mediated unfolded protein response [GO:0036498]


uniprotID: O95947
geneSymbol: TBX6
name: T-box transcription factor TBX6 (T-box protein 6)
length: 436
go: ENSG00000149922;
snps: rs202193096 rs949681104 rs56098093 rs12925839 rs12925838
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II transcription factor binding [GO:0001085]; anatomical structure morphogenesis [GO:0009653]; cell fate specification [GO:0001708]; mesoderm development [GO:0007498]; mesoderm formation [GO:0001707]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of neuron maturation [GO:0014043]; negative regulation of neuron projection development [GO:0010977]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; signal transduction involved in regulation of gene expression [GO:0023019]; somite rostral/caudal axis specification [GO:0032525]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95947-1; Sequence=Displayed; Name=2; IsoId=O95947-2; Sequence=VSP_054003, VSP_054004; Note=No experimental confirmation available.; 


uniprotID: Q8IYX1
geneSymbol: TBC1D21
name: TBC1 domain family member 21
length: 336
go: ENSG00000167139;
snps: rs16958445
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; actin binding [GO:0003779]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; cell differentiation [GO:0030154]; intracellular protein transport [GO:0006886]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYX1-1; Sequence=Displayed; Name=2; IsoId=Q8IYX1-2; Sequence=VSP_053999; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q9D9D3}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9D9D3}. Note=Located at the edge of the acrosomal region, neck and annulus during spermiogenesis. Colocalizes with RAB3A at the acrosome-acroplaxome and neck regions of spermatids. Colocalizes with ACTB at the neck region in elongated spermatids. {ECO:0000250|UniProtKB:Q9D9D3}.


uniprotID: Q6SJ96
geneSymbol: TBPL2
length: 375
go: ENSG00000182521;
snps: rs8019270
name:
TATA box-binding protein-like protein 2 (TBP-like protein 2) (TATA box-binding protein-related factor 3) (TBP-related factor 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; 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]; 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 factor binding [GO:0008134]; multicellular organism development [GO:0007275]; negative regulation of transcription, DNA-templated [GO:0045892]; RNA polymerase III preinitiation complex assembly [GO:0070898]; transcription by RNA polymerase II [GO:0006366]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14634207}. Nucleus {ECO:0000269|PubMed:14634207}. Note=Present in the cytoplasm during cytokinesis. {ECO:0000269|PubMed:14634207}.


uniprotID: O15178
geneSymbol: TBXT
pdb: 6F58;6F59;
name: T-box transcription factor T (Brachyury protein) (Protein T)
length: 435
go: ENSG00000164458;
snps: rs587777303 rs2305089 rs3127328 rs77703807 rs35292451 rs3816300 rs34517945
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22611028, ECO:0000269|PubMed:24253444}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription factor binding [GO:0001085]; anterior/posterior axis specification, embryo [GO:0008595]; BMP signaling pathway [GO:0030509]; bone morphogenesis [GO:0060349]; canonical Wnt signaling pathway [GO:0060070]; cellular response to retinoic acid [GO:0071300]; determination of heart left/right asymmetry [GO:0061371]; embryonic skeletal system development [GO:0048706]; heart morphogenesis [GO:0003007]; mesoderm development [GO:0007498]; mesoderm migration involved in gastrulation [GO:0007509]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neural plate morphogenesis [GO:0001839]; neural tube closure [GO:0001843]; notochord formation [GO:0014028]; penetration of zona pellucida [GO:0007341]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation [GO:0003257]; post-anal tail morphogenesis [GO:0036342]; primitive streak formation [GO:0090009]; signal transduction [GO:0007165]; signal transduction involved in regulation of gene expression [GO:0023019]; SMAD protein signal transduction [GO:0060395]; somitogenesis [GO:0001756]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15178-1; Sequence=Displayed; Name=2; IsoId=O15178-2; Sequence=VSP_044795; Note=No experimental confirmation available.; 


uniprotID: P54274
geneSymbol: TERF1
reactome: R-HSA-1221632;R-HSA-171306;R-HSA-2559586;
pdb: 1BA5;1H6O;1ITY;1IV6;1W0T;3BQO;3L82;5HKP;5WIR;5XUP;
length: 439
go: ENSG00000147601;
name:
Telomeric repeat-binding factor 1 (NIMA-interacting protein 2) (TTAGGG repeat-binding factor 1) (Telomeric protein Pin2/TRF1)

sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; nuclear body [GO:0016604]; nuclear chromosome, telomeric region [GO:0000784]; nuclear telomere cap complex [GO:0000783]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; shelterin complex [GO:0070187]; spindle [GO:0005819]; ankyrin repeat binding [GO:0071532]; DNA binding [GO:0003677]; DNA binding, bending [GO:0008301]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded telomeric DNA binding [GO:0003691]; G-rich strand telomeric DNA binding [GO:0098505]; microtubule binding [GO:0008017]; protein C-terminus binding [GO:0008022]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; telomeric DNA binding [GO:0042162]; cell division [GO:0051301]; G2/M transition of mitotic cell cycle [GO:0000086]; meiotic telomere clustering [GO:0045141]; mitotic spindle assembly checkpoint [GO:0007094]; negative regulation of DNA replication [GO:0008156]; negative regulation of establishment of protein localization to telomere [GO:1904850]; negative regulation of establishment of protein-containing complex localization to telomere [GO:1904914]; negative regulation of establishment of RNA localization to telomere [GO:1904911]; negative regulation of exonuclease activity [GO:1905778]; negative regulation of telomerase activity [GO:0051974]; negative regulation of telomere maintenance via semi-conservative replication [GO:0032214]; negative regulation of telomere maintenance via telomerase [GO:0032211]; negative regulation of telomere maintenance via telomere lengthening [GO:1904357]; negative regulation of telomeric D-loop disassembly [GO:1905839]; positive regulation of apoptotic process [GO:0043065]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of shelterin complex assembly [GO:1904792]; protein homooligomerization [GO:0051260]; response to drug [GO:0042493]; t-circle formation [GO:0090656]; telomere capping [GO:0016233]; telomere maintenance [GO:0000723]; telomere maintenance via telomerase [GO:0007004]; telomeric D-loop disassembly [GO:0061820]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=TRF1; IsoId=P54274-1; Sequence=Displayed; Name=2; Synonyms=Pin2; IsoId=P54274-2; Sequence=VSP_003303; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, spindle. Chromosome, telomere. Note=Colocalizes with telomeric DNA in interphase and prophase cells. Telomeric localization decreases in metaphase, anaphase and telophase. Associates with the mitotic spindle.


uniprotID: Q5QJ38
geneSymbol: TCHHL1
name: Trichohyalin-like protein 1 (Basalin) (Protein S100-A17) (S100 calcium-binding protein A17)
length: 904
go: ENSG00000182898;
opentargets: transition metal ion binding [GO:0046914]
snps: rs16833835
sequence:


uniprotID: Q96EK4
geneSymbol: THAP11
pdb: 2LAU;5AJS;
name: THAP domain-containing protein 11
length: 314
go: ENSG00000168286;
sequence:

opentargets:
cytoplasm [GO:0005737]; intercellular bridge [GO:0045171]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; zinc ion binding [GO:0008270]; negative regulation of transcription by RNA polymerase II [GO:0000122]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9853615}. Cytoplasm {ECO:0000250}. Note=May be regulated by shuttling of the protein between the cytoplasm and nucleus. {ECO:0000250}.


uniprotID: Q13207
geneSymbol: TBX2
name: T-box transcription factor TBX2 (T-box protein 2)
length: 712
go: ENSG00000121068;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; aorta morphogenesis [GO:0035909]; atrioventricular canal development [GO:0036302]; cardiac muscle tissue development [GO:0048738]; cell aging [GO:0007569]; cellular senescence [GO:0090398]; developmental growth involved in morphogenesis [GO:0060560]; embryonic camera-type eye morphogenesis [GO:0048596]; embryonic digit morphogenesis [GO:0042733]; embryonic heart tube development [GO:0035050]; endocardial cushion morphogenesis [GO:0003203]; heart looping [GO:0001947]; mammary placode formation [GO:0060596]; muscle cell fate determination [GO:0007521]; negative regulation of cardiac chamber formation [GO:1901211]; negative regulation of heart looping [GO:1901208]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; Notch signaling pathway [GO:0007219]; outflow tract morphogenesis [GO:0003151]; outflow tract septum morphogenesis [GO:0003148]; pharynx development [GO:0060465]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell proliferation [GO:0008284]; regulation of heart contraction [GO:0008016]; regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation [GO:0003256]; roof of mouth development [GO:0060021]


uniprotID: P58753
geneSymbol: TIRAP
reactome: R-HSA-1236974;R-HSA-166058;R-HSA-5602498;R-HSA-5603041;
pdb: 2NDH;2Y92;3UB2;3UB3;3UB4;4FZ5;4LQD;5T7Q;5UZB;
length: 221
go: ENSG00000150455;
snps: rs8177369 rs8177399 rs3802813 rs8177400 rs8177374 rs7932976
name:
Toll/interleukin-1 receptor domain-containing adapter protein (TIR domain-containing adapter protein) (Adaptor protein Wyatt) (MyD88 adapter-like protein) (MyD88-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; identical protein binding [GO:0042802]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein binding, bridging [GO:0030674]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase C binding [GO:0005080]; Toll-like receptor 2 binding [GO:0035663]; Toll-like receptor 4 binding [GO:0035662]; 3'-UTR-mediated mRNA stabilization [GO:0070935]; activation of NF-kappaB-inducing kinase activity [GO:0007250]; cell surface receptor signaling pathway [GO:0007166]; cellular response to bacterial lipopeptide [GO:0071221]; cellular response to lipoteichoic acid [GO:0071223]; defense response to Gram-positive bacterium [GO:0050830]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; myeloid cell differentiation [GO:0030099]; negative regulation of growth of symbiont in host [GO:0044130]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of chemokine (C-X-C motif) ligand 1 production [GO:2000340]; positive regulation of chemokine (C-X-C motif) ligand 2 production [GO:2000343]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-15 production [GO:0032738]; positive regulation of interleukin-6 biosynthetic process [GO:0045410]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of JNK cascade [GO:0046330]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein homodimerization activity [GO:0090073]; positive regulation of toll-like receptor 2 signaling pathway [GO:0034137]; positive regulation of toll-like receptor 3 signaling pathway [GO:0034141]; positive regulation of toll-like receptor 4 signaling pathway [GO:0034145]; positive regulation of tumor necrosis factor production [GO:0032760]; regulation of innate immune response [GO:0045088]; regulation of interferon-beta production [GO:0032648]; response to lipopolysaccharide [GO:0032496]; TIRAP-dependent toll-like receptor 4 signaling pathway [GO:0035665]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P58753-1; Sequence=Displayed; Name=2; IsoId=P58753-2; Sequence=VSP_010765; Name=3; IsoId=P58753-3; Sequence=VSP_017239; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19948740}. Cell membrane {ECO:0000269|PubMed:19948740}. Membrane {ECO:0000269|PubMed:19948740}. Note=Colocalizes with DAB2IP at the plasma membrane.


uniprotID: P07437
geneSymbol: TUBB
pdb: 3QNZ;3QO0;5N5N;
name: Tubulin beta chain (Tubulin beta-5 chain)
length: 444
go: ENSG00000196230;
drug: DB05284;DB01394;DB05147;DB03010;DB01873;DB01179;DB00570;DB00541;DB00361;DB06042;
snps: rs864321676 rs864321677 rs587777355 rs587777356 rs587777357
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:26637975}.
reactome:
R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-6798695;R-HSA-8854518;

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cell body [GO:0044297]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane raft [GO:0045121]; microtubule [GO:0005874]; nuclear envelope lumen [GO:0005641]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activating protein binding [GO:0032794]; GTPase activity [GO:0003924]; MHC class I protein binding [GO:0042288]; protein domain specific binding [GO:0019904]; protein-containing complex binding [GO:0044877]; structural constituent of cytoskeleton [GO:0005200]; structural molecule activity [GO:0005198]; ubiquitin protein ligase binding [GO:0031625]; cell division [GO:0051301]; cellular process [GO:0009987]; ciliary basal body-plasma membrane docking [GO:0097711]; cytoskeleton-dependent intracellular transport [GO:0030705]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]; natural killer cell mediated cytotoxicity [GO:0042267]; neutrophil degranulation [GO:0043312]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of synapse organization [GO:0050807]; spindle assembly [GO:0051225]


uniprotID: Q13885
geneSymbol: TUBB2A
name: Tubulin beta-2A chain (Tubulin beta class IIa)
length: 445
go: ENSG00000137267;
drug: DB05147;
snps: rs774124807 rs886037663 rs2808001
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; microtubule [GO:0005874]; nucleus [GO:0005634]; 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]


uniprotID: Q12788
geneSymbol: TBL3
reactome: R-HSA-6790901;R-HSA-6791226;
name: Transducin beta-like protein 3 (WD repeat-containing protein SAZD)
length: 808
go: ENSG00000183751;
snps: rs2230086 rs8052713 rs17605
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Pwp2p-containing subcomplex of 90S preribosome [GO:0034388]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; snoRNA binding [GO:0030515]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; rRNA processing [GO:0006364]


uniprotID: Q86UD7
geneSymbol: TBC1D26
name: TBC1 domain family member 26
length: 250
snps: rs11650318 rs17855672
sequence:

opentargets:
intracellular [GO:0005622]; 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=Q86UD7-1; Sequence=Displayed; Name=2; IsoId=Q86UD7-2; Sequence=VSP_033827, VSP_033828; Note=No experimental confirmation available.; Name=3; IsoId=Q86UD7-3; Sequence=VSP_033825, VSP_033826; Note=No experimental confirmation available.; 


uniprotID: Q2M2D7
geneSymbol: TBC1D28
name: TBC1 domain family member 28
length: 210
sequence:


uniprotID: Q13889
geneSymbol: GTF2H3
pdb: 5IVW;5IY6;5IY7;5IY8;5IY9;5O85;5OF4;
length: 308
go: ENSG00000111358;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27193682, ECO:0000269|PubMed:9852112}.
name:
General transcription factor IIH subunit 3 (Basic transcription factor 2 34 kDa subunit) (BTF2 p34) (General transcription factor IIH polypeptide 3) (TFIIH basal transcription factor complex p34 subunit)

sequence:

opentargets:
core TFIIH complex portion of holo TFIIH complex [GO:0000438]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor TFIID complex [GO:0005669]; transcription factor TFIIH core complex [GO:0000439]; transcription factor TFIIH holo complex [GO:0005675]; transcriptional preinitiation complex [GO:0097550]; damaged DNA binding [GO:0003684]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; protein N-terminus binding [GO:0047485]; translation factor activity, RNA binding [GO:0008135]; 7-methylguanosine mRNA capping [GO:0006370]; DNA repair [GO:0006281]; 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]; phosphorylation of RNA polymerase II C-terminal domain [GO:0070816]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase II [GO:0006366]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13889-1; Sequence=Displayed; Name=2; IsoId=Q13889-2; Sequence=VSP_055153; Note=No experimental confirmation available.; 


uniprotID: P01137
geneSymbol: TGFB1
pdb: 1KLA;1KLC;1KLD;3KFD;4KV5;5FFO;5VQP;
length: 390
drug: DB00070;DB06205;
snps: rs1800470 rs1800471 rs1800472
reactome:
R-HSA-114608;R-HSA-168277;R-HSA-202733;R-HSA-2129379;R-HSA-2173788;R-HSA-2173789;R-HSA-2173791;R-HSA-3000170;R-HSA-3000178;R-HSA-3304356;R-HSA-3315487;R-HSA-3642279;R-HSA-3645790;R-HSA-3656532;R-HSA-3656535;R-HSA-381340;R-HSA-5689603;R-HSA-6785807;R-HSA-8941855;R-HSA-8941858;R-HSA-8951936;

name:
Transforming growth factor beta-1 proprotein [Cleaved into: Latency-associated peptide (LAP); Transforming growth factor beta-1 (TGF-beta-1)]

sequence:

opentargets:
axon [GO:0030424]; blood microparticle [GO:0072562]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; platelet alpha granule lumen [GO:0031093]; antigen binding [GO:0003823]; cytokine activity [GO:0005125]; enzyme binding [GO:0019899]; growth factor activity [GO:0008083]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein N-terminus binding [GO:0047485]; protein serine/threonine kinase activator activity [GO:0043539]; transforming growth factor beta receptor binding [GO:0005160]; type I transforming growth factor beta receptor binding [GO:0034713]; type II transforming growth factor beta receptor binding [GO:0005114]; type III transforming growth factor beta receptor binding [GO:0034714]; adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains [GO:0002460]; aging [GO:0007568]; aortic valve morphogenesis [GO:0003180]; ATP biosynthetic process [GO:0006754]; branch elongation involved in mammary gland duct branching [GO:0060751]; cell cycle arrest [GO:0007050]; cell development [GO:0048468]; cell migration [GO:0016477]; cell-cell junction organization [GO:0045216]; cellular calcium ion homeostasis [GO:0006874]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to insulin-like growth factor stimulus [GO:1990314]; cellular response to ionizing radiation [GO:0071479]; cellular response to mechanical stimulus [GO:0071260]; cellular response to organic cyclic compound [GO:0071407]; cellular response to transforming growth factor beta stimulus [GO:0071560]; chondrocyte differentiation [GO:0002062]; common-partner SMAD protein phosphorylation [GO:0007182]; connective tissue replacement involved in inflammatory response wound healing [GO:0002248]; cytokine-mediated signaling pathway [GO:0019221]; defense response to fungus, incompatible interaction [GO:0009817]; digestive tract development [GO:0048565]; embryonic liver development [GO:1990402]; endoderm development [GO:0007492]; epidermal growth factor receptor signaling pathway [GO:0007173]; epithelial to mesenchymal transition [GO:0001837]; evasion or tolerance of host defenses by virus [GO:0019049]; extracellular matrix assembly [GO:0085029]; extrinsic apoptotic signaling pathway [GO:0097191]; face morphogenesis [GO:0060325]; female pregnancy [GO:0007565]; frontal suture morphogenesis [GO:0060364]; germ cell migration [GO:0008354]; heart development [GO:0007507]; heart valve morphogenesis [GO:0003179]; hematopoietic progenitor cell differentiation [GO:0002244]; hyaluronan catabolic process [GO:0030214]; inflammatory response [GO:0006954]; inner ear development [GO:0048839]; lens fiber cell differentiation [GO:0070306]; leukocyte migration [GO:0050900]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; liver regeneration [GO:0097421]; lymph node development [GO:0048535]; macrophage derived foam cell differentiation [GO:0010742]; mammary gland branching involved in thelarche [GO:0060744]; MAPK cascade [GO:0000165]; membrane protein intracellular domain proteolysis [GO:0031293]; mitotic cell cycle checkpoint [GO:0007093]; mononuclear cell proliferation [GO:0032943]; myelination [GO:0042552]; myeloid dendritic cell differentiation [GO:0043011]; negative regulation of biomineral tissue development [GO:0070168]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell differentiation [GO:0045596]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell-cell adhesion [GO:0022408]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of extracellular matrix disassembly [GO:0010716]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of gene expression [GO:0010629]; negative regulation of gene silencing by miRNA [GO:0060965]; negative regulation of hyaluronan biosynthetic process [GO:1900126]; negative regulation of interleukin-17 production [GO:0032700]; negative regulation of macrophage cytokine production [GO:0010936]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of neuroblast proliferation [GO:0007406]; negative regulation of ossification [GO:0030279]; negative regulation of phagocytosis [GO:0050765]; negative regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903799]; negative regulation of protein localization to plasma membrane [GO:1903077]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of release of sequestered calcium ion into cytosol [GO:0051280]; negative regulation of skeletal muscle tissue development [GO:0048642]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; neural tube closure [GO:0001843]; neural tube development [GO:0021915]; Notch signaling pathway [GO:0007219]; oligodendrocyte development [GO:0014003]; ossification involved in bone remodeling [GO:0043932]; osteoclast differentiation [GO:0030316]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; phosphate-containing compound metabolic process [GO:0006796]; platelet degranulation [GO:0002576]; positive regulation of apoptotic process [GO:0043065]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of bone mineralization [GO:0030501]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of cardiac muscle cell differentiation [GO:2000727]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of cell division [GO:0051781]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of chemotaxis [GO:0050921]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of exit from mitosis [GO:0031536]; positive regulation of extracellular matrix assembly [GO:1901203]; positive regulation of fibroblast migration [GO:0010763]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of gene expression [GO:0010628]; positive regulation of histone acetylation [GO:0035066]; positive regulation of histone deacetylation [GO:0031065]; positive regulation of interleukin-17 production [GO:0032740]; positive regulation of isotype switching to IgA isotypes [GO:0048298]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of microglia differentiation [GO:0014008]; positive regulation of mononuclear cell migration [GO:0071677]; positive regulation of NAD+ ADP-ribosyltransferase activity [GO:1901666]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of odontogenesis [GO:0042482]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903800]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of protein dephosphorylation [GO:0035307]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein secretion [GO:0050714]; positive regulation of receptor clustering [GO:1903911]; positive regulation of regulatory T cell differentiation [GO:0045591]; positive regulation of SMAD protein signal transduction [GO:0060391]; positive regulation of smooth muscle cell differentiation [GO:0051152]; positive regulation of superoxide anion generation [GO:0032930]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular endothelial growth factor production [GO:0010575]; positive regulation of vascular permeability [GO:0043117]; protein export from nucleus [GO:0006611]; protein import into nucleus, translocation [GO:0000060]; protein kinase B signaling [GO:0043491]; protein phosphorylation [GO:0006468]; receptor catabolic process [GO:0032801]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of apoptotic process [GO:0042981]; regulation of binding [GO:0051098]; regulation of blood vessel remodeling [GO:0060312]; regulation of branching involved in mammary gland duct morphogenesis [GO:0060762]; regulation of cartilage development [GO:0061035]; regulation of cell migration [GO:0030334]; regulation of cell proliferation [GO:0042127]; regulation of DNA binding [GO:0051101]; regulation of interleukin-23 production [GO:0032667]; regulation of MAPK cascade [GO:0043408]; regulation of protein import into nucleus [GO:0042306]; regulation of SMAD protein signal transduction [GO:0060390]; regulation of sodium ion transport [GO:0002028]; regulation of striated muscle tissue development [GO:0016202]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; regulatory T cell differentiation [GO:0045066]; response to cholesterol [GO:0070723]; response to estradiol [GO:0032355]; response to glucose [GO:0009749]; response to hypoxia [GO:0001666]; response to immobilization stress [GO:0035902]; response to laminar fluid shear stress [GO:0034616]; response to progesterone [GO:0032570]; response to salt [GO:1902074]; response to vitamin D [GO:0033280]; response to wounding [GO:0009611]; salivary gland morphogenesis [GO:0007435]; SMAD protein complex assembly [GO:0007183]; SMAD protein signal transduction [GO:0060395]; T cell homeostasis [GO:0043029]; tolerance induction to self antigen [GO:0002513]; transforming growth factor beta receptor signaling pathway [GO:0007179]; transforming growth factor beta receptor signaling pathway involved in heart development [GO:1905313]; ureteric bud development [GO:0001657]; vasculogenesis [GO:0001570]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]

location:
SUBCELLULAR LOCATION: Latency-associated peptide: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:17827158}.; SUBCELLULAR LOCATION: Transforming growth factor beta-1: Secreted {ECO:0000269|PubMed:17827158}.


uniprotID: Q96M53
geneSymbol: TBATA
length: 351
go: ENSG00000166220;
snps: rs2254174
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}.
name:
Protein TBATA (Protein SPATIAL) (Stromal protein associated with thymii and lymph node homolog) (Thymus, brain and testes-associated protein)

sequence:

opentargets:
cytosol [GO:0005829]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96M53-1; Sequence=Displayed; Name=2; IsoId=Q96M53-2; Sequence=VSP_035483, VSP_035484; Note=No experimental confirmation available.; 


uniprotID: P56279
geneSymbol: TCL1A
pdb: 1JSG;
name: T-cell leukemia/lymphoma protein 1A (Oncogene TCL-1) (Oncogene TCL1) (Protein p14 TCL1)
length: 114
go: ENSG00000100721;
snps: rs17093294
sequence:
MAECPTLGEAVTDHPDRLWAWEKFVYLDEKQHAWLPLTIEIKDRLQLRVLLRREDVVLGRPMTPTQIGPSLLPIMWQLYPDGRYRSSDSSFWRLVYHIKIDGVEDMLLELLPDD

opentargets:
endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activator activity [GO:0043539]; cellular response to tumor necrosis factor [GO:0071356]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cell proliferation [GO:0008284]; positive regulation of mitochondrial membrane potential [GO:0010918]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein oligomerization [GO:0032461]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; protein homotrimerization [GO:0070207]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Microsome {ECO:0000269|PubMed:7987816}. Endoplasmic reticulum {ECO:0000269|PubMed:7987816}. Note=Microsomal fraction.


uniprotID: Q9UHD2
geneSymbol: TBK1
pdb: 4EFO;4EUT;4EUU;4IM0;4IM2;4IM3;4IW0;4IWO;4IWP;4IWQ;5EOA;5EOF;5EP6;5W5V;6BNY;6BOD;6BOE;
length: 729
go: ENSG00000183735;
reactome:
R-HSA-1606341;R-HSA-3134975;R-HSA-3249367;R-HSA-3270619;R-HSA-9008059;R-HSA-9013973;R-HSA-918233;R-HSA-933541;R-HSA-936440;R-HSA-936964;

name:
Serine/threonine-protein kinase TBK1 (EC 2.7.11.1) (NF-kappa-B-activating kinase) (T2K) (TANK-binding kinase 1)

sequence:

opentargets:
aggresome [GO:0016235]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; nucleic acid binding [GO:0003676]; phosphoprotein binding [GO:0051219]; protein kinase activity [GO:0004672]; protein phosphatase binding [GO:0019903]; protein serine/threonine kinase activity [GO:0004674]; cellular response to cytokine stimulus [GO:0071345]; defense response to Gram-positive bacterium [GO:0050830]; defense response to virus [GO:0051607]; dendritic cell proliferation [GO:0044565]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; negative regulation of gene expression [GO:0010629]; negative regulation of type I interferon production [GO:0032480]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interferon-alpha production [GO:0032727]; positive regulation of interferon-beta biosynthetic process [GO:0045359]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of macroautophagy [GO:0016239]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type I interferon production [GO:0032481]; positive regulation of xenophagy [GO:1904417]; protein phosphorylation [GO:0006468]; regulation of neuron death [GO:1901214]; regulation of type I interferon production [GO:0032479]; response to virus [GO:0009615]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]; type I interferon production [GO:0032606]; viral process [GO:0016032]

snps:
rs1010930015 rs55824172 rs56196591 rs34774243 rs770942184 rs201970436 rs758357594 rs17857028 rs756751089 rs1262765773 rs35635889 rs17853341 rs765035140 rs899858451 rs748112833 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15485837, ECO:0000269|PubMed:21813773}. Note=Upon mitogen stimulation or triggering of the immune system, TBK1 is recruited to the exocyst by EXOC2.


uniprotID: Q6UX27
geneSymbol: VSTM1
length: 236
go: ENSG00000189068;
snps: rs2433724
name:
V-set and transmembrane domain-containing protein 1 (Signal inhibitory receptor on leukocytes-1) (SIRL-1)

sequence:

opentargets:
extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; cytokine activity [GO:0005125]; immune system process [GO:0002376]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UX27-1; Sequence=Displayed; Name=2; Synonyms=VSTM1-v2; IsoId=Q6UX27-2; Sequence=VSP_022381; Note=Mainly detected in immune tissues and cells.; Name=3; IsoId=Q6UX27-3; Sequence=VSP_022382, VSP_022383; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:22960280}.


uniprotID: Q8N1K5
geneSymbol: THEMIS
name: Protein THEMIS (Thymocyte-expressed molecule involved in selection)
length: 641
go: ENSG00000172673;
snps: rs11968051 rs675531
sequence:

opentargets:
cell-cell junction [GO:0005911]; COP9 signalosome [GO:0008180]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; adaptive immune response [GO:0002250]; negative T cell selection [GO:0043383]; positive T cell selection [GO:0043368]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N1K5-1; Sequence=Displayed; Name=2; IsoId=Q8N1K5-2; Sequence=VSP_037965; Note=No experimental confirmation available.; Name=3; IsoId=Q8N1K5-3; Sequence=VSP_037964; Note=No experimental confirmation available.; Name=4; IsoId=Q8N1K5-4; Sequence=VSP_055714; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BGW0}. Nucleus {ECO:0000250|UniProtKB:Q8BGW0}.


uniprotID: Q5TEJ8
geneSymbol: THEMIS2
length: 643
go: ENSG00000130775;
snps: rs35995543 rs3766400
name:
Protein THEMIS2 (Induced by contact to basement membrane 1 protein) (Protein ICB-1) (Thymocyte-expressed molecule involved in selection protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cell adhesion [GO:0007155]; inflammatory response [GO:0006954]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q5TEJ8-1; Sequence=Displayed; Name=2; Synonyms=ICB1-beta; IsoId=Q5TEJ8-2; Sequence=VSP_015326, VSP_015327; Note=No experimental confirmation available.; Name=3; Synonyms=ICB1-gamma; IsoId=Q5TEJ8-3; Sequence=VSP_015330; Name=4; IsoId=Q5TEJ8-4; Sequence=VSP_015328, VSP_015329; Name=5; IsoId=Q5TEJ8-5; Sequence=VSP_037967; Note=No experimental confirmation available.; Name=6; IsoId=Q5TEJ8-6; Sequence=VSP_037966; Note=No experimental confirmation available.; 


uniprotID: Q9NRH3
geneSymbol: TUBG2
reactome: R-HSA-380270;R-HSA-380320;
name: Tubulin gamma-2 chain (Gamma-2-tubulin)
length: 451
go: ENSG00000037042;
snps: rs1046097
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; gamma-tubulin complex [GO:0000930]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; nucleus [GO:0005634]; pericentriolar material [GO:0000242]; spindle [GO:0005819]; spindle microtubule [GO:0005876]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; structural constituent of cytoskeleton [GO:0005200]; structural molecule activity [GO:0005198]; cytoplasmic microtubule organization [GO:0031122]; meiotic spindle organization [GO:0000212]; microtubule cytoskeleton organization [GO:0000226]; microtubule nucleation [GO:0007020]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]; mitotic sister chromatid segregation [GO:0000070]; mitotic spindle organization [GO:0007052]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000305}.


uniprotID: P04155
geneSymbol: TFF1
reactome: R-HSA-9018519;
pdb: 1HI7;1PS2;
sequence: MATMENKVICALVLVSMLALGTLAEAQTETCTVAPRERQNCGFPGVTPSQCANKGCCFDDTVRGVPWCFYPNTIDVPPEEECEF
length: 84
go: ENSG00000160182;
snps: rs34795821
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15924415, ECO:0000269|PubMed:3041593}.
name:
Trefoil factor 1 (Breast cancer estrogen-inducible protein) (PNR-2) (Polypeptide P1.A) (hP1.A) (Protein pS2)

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; growth factor activity [GO:0008083]; carbohydrate metabolic process [GO:0005975]; cell differentiation [GO:0030154]; maintenance of gastrointestinal epithelium [GO:0030277]; negative regulation of cell proliferation [GO:0008285]; response to immobilization stress [GO:0035902]; response to iron ion [GO:0010039]; response to peptide hormone [GO:0043434]


uniprotID: Q8IW00
geneSymbol: VSTM4
name: V-set and transmembrane domain-containing protein 4 [Cleaved into: Peptide Lv]
length: 320
go: ENSG00000165633;
snps: rs13088 rs138454994 rs17854124
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IW00-1; Sequence=Displayed; Name=2; IsoId=Q8IW00-2; Sequence=VSP_022766, VSP_022767; 

location:
SUBCELLULAR LOCATION: Peptide Lv: Secreted {ECO:0000250|UniProtKB:T1NXB5}.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: P00734
geneSymbol: F2
length: 622
go: ENSG00000180210;
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
reactome:
R-HSA-140837;R-HSA-140875;R-HSA-159740;R-HSA-159763;R-HSA-159782;R-HSA-202733;R-HSA-375276;R-HSA-381426;R-HSA-416476;R-HSA-456926;R-HSA-76009;R-HSA-977606;

pdb:
1A2C;1A3B;1A3E;1A46;1A4W;1A5G;1A61;1ABI;1ABJ;1AD8;1AE8;1AFE;1AHT;1AI8;1AIX;1AWF;1AWH;1AY6;1B5G;1B7X;1BA8;1BB0;1BCU;1BHX;1BMM;1BMN;1BTH;1C1U;1C1V;1C1W;1C4U;1C4V;1C4Y;1C5L;1C5N;1C5O;1CA8;1D3D;1D3P;1D3Q;1D3T;1D4P;1D6W;1D9I;1DE7;1DIT;1DM4;1DOJ;1DWB;1DWC;1DWD;1DWE;1DX5;1E0F;1EB1;1EOJ;1EOL;1FPC;1FPH;1G30;1G32;1G37;1GHV;1GHW;1GHX;1GHY;1GJ4;1GJ5;1H8D;1H8I;1HAG;1HAH;1HAI;1HAO;1HAP;1HBT;1HDT;1HGT;1HLT;1HUT;1HXE;1HXF;1IHS;1IHT;1JMO;1JOU;1JWT;1K21;1K22;1KTS;1KTT;1LHC;1LHD;1LHE;1LHF;1LHG;1MH0;1MU6;1MU8;1MUE;1NM6;1NO9;1NRN;1NRO;1NRP;1NRQ;1NRR;1NRS;1NT1;1NU7;1NU9;1NY2;1NZQ;1O0D;1O2G;1O5G;1OOK;1OYT;1P8V;1PPB;1QBV;1QHR;1QJ1;1QJ6;1QJ7;1QUR;1RD3;1RIW;1SB1;1SFQ;1SG8;1SGI;1SHH;1SL3;1SR5;1T4U;1T4V;1TA2;1TA6;1TB6;1TBZ;1THP;1THR;1THS;1TMB;1TMT;1TMU;1TOM;1TQ0;1TQ7;1TWX;1UMA;1UVS;1VR1;1VZQ;1W7G;1WAY;1WBG;1XM1;1XMN;1YPE;1YPG;1YPJ;1YPK;1YPL;1YPM;1Z71;1Z8I;1Z8J;1ZGI;1ZGV;1ZRB;2A0Q;2A2X;2A45;2AFQ;2ANK;2ANM;2B5T;2BDY;2BVR;2BVS;2BVX;2BXT;2BXU;2C8W;2C8X;2C8Y;2C8Z;2C90;2C93;2CF8;2CF9;2CN0;2FEQ;2FES;2GDE;2GP9;2H9T;2HGT;2HNT;2HPP;2HPQ;2HWL;2JH0;2JH5;2JH6;2OD3;2PGB;2PGQ;2PKS;2PW8;2R2M;2THF;2UUF;2UUJ;2UUK;2V3H;2V3O;2ZC9;2ZDA;2ZDV;2ZF0;2ZFF;2ZFP;2ZFQ;2ZFR;2ZG0;2ZGB;2ZGX;2ZHE;2ZHF;2ZHQ;2ZHW;2ZI2;2ZIQ;2ZNK;2ZO3;3B23;3B9F;3BEF;3BEI;3BF6;3BIU;3BIV;3BV9;3C1K;3C27;3D49;3DA9;3DD2;3DHK;3DT0;3DUX;3E6P;3EE0;3EGK;3EQ0;3F68;3GIC;3GIS;3HAT;3HKJ;3HTC;3JZ1;3JZ2;3K65;3LDX;3LU9;3NXP;3P17;3P6Z;3P70;3PMH;3PO1;3QDZ;3QGN;3QLP;3QTO;3QTV;3QWC;3QX5;3R3G;3RLW;3RLY;3RM0;3RM2;3RML;3RMM;3RMN;3RMO;3S7H;3S7K;3SHA;3SHC;3SI3;3SI4;3SQE;3SQH;3SV2;3T5F;3TU7;3U69;3U8O;3U8R;3U8T;3U98;3U9A;3UTU;3UWJ;3VXE;3VXF;4AX9;4AYV;4AYY;4AZ2;4BAH;4BAK;4BAM;4BAN;4BAO;4BAQ;4BOH;4CH2;4CH8;4DIH;4DII;4DT7;4DY7;4E05;4E06;4E7R;4H6S;4H6T;4HFP;4HTC;4HZH;4I7Y;4LOY;4LXB;4LZ1;4LZ4;4MLF;4NZQ;4O03;4RKJ;4RKO;4RN6;4THN;4UD9;4UDW;4UE7;4UEH;4UFD;4UFE;4UFF;4UFG;4YES;5A2M;5AF9;5AFY;5AFZ;5AHG;5CMX;5DO4;5E8E;5EDK;5EDM;5EW1;5EW2;5GDS;5GIM;5JDU;5JFD;5JZY;5L6N;5MJT;5MLS;5MM6;5NHU;5TO3;5Z5W;5Z5X;6BJR;6C2W;6EO6;6EO7;6EO8;6EO9;7KME;8KME;

name:
Prothrombin (EC 3.4.21.5) (Coagulation factor II) [Cleaved into: Activation peptide fragment 1; Activation peptide fragment 2; Thrombin light chain; Thrombin heavy chain]

sequence:

opentargets:
blood microparticle [GO:0072562]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; enzyme activator activity [GO:0008047]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; lipopolysaccharide binding [GO:0001530]; serine-type endopeptidase activity [GO:0004252]; signaling receptor binding [GO:0005102]; thrombospondin receptor activity [GO:0070053]; acute-phase response [GO:0006953]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; blood coagulation [GO:0007596]; blood coagulation, intrinsic pathway [GO:0007597]; cell surface receptor signaling pathway [GO:0007166]; cellular protein metabolic process [GO:0044267]; cytolysis by host of symbiont cells [GO:0051838]; ER to Golgi vesicle-mediated transport [GO:0006888]; fibrinolysis [GO:0042730]; G protein-coupled receptor signaling pathway [GO:0007186]; multicellular organism development [GO:0007275]; negative regulation of astrocyte differentiation [GO:0048712]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; negative regulation of fibrinolysis [GO:0051918]; negative regulation of platelet activation [GO:0010544]; negative regulation of proteolysis [GO:0045861]; neutrophil mediated killing of gram-negative bacterium [GO:0070945]; platelet activation [GO:0030168]; positive regulation of blood coagulation [GO:0030194]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of lipid kinase activity [GO:0090218]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway [GO:1900738]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; proteolysis [GO:0006508]; regulation of blood coagulation [GO:0030193]; regulation of cell shape [GO:0008360]; regulation of complement activation [GO:0030449]; regulation of cytosolic calcium ion concentration [GO:0051480]; response to wounding [GO:0009611]

drug:
DB07211;DB06850;DB07091;DB06845;DB07088;DB07131;DB07095;DB07897;DB06878;DB06947;DB06869;DB06929;DB07400;DB04771;DB04772;DB06854;DB02193;DB07277;DB07278;DB07105;DB07366;DB08254;DB07718;DB07639;DB07190;DB07508;DB07809;DB08061;DB03136;DB07440;DB07376;DB06861;DB06866;DB06865;DB03865;DB07934;DB08422;DB07659;DB07660;DB07658;DB00025;DB00278;DB08624;DB01766;DB07083;DB00006;DB06404;DB09228;DB00100;DB03159;DB06911;DB06996;DB06919;DB07027;DB07133;DB06841;DB07143;DB07005;DB06695;DB00055;DB03847;DB01767;DB00001;DB04136;DB00170;DB06838;DB08187;DB06868;DB06942;DB06936;DB07165;DB06859;DB06853;DB06858;DB07279;DB07944;DB01123;DB04786;DB05777;DB04697;DB04898;DB08152;

snps:
rs5896 rs62623459 rs121918477 rs754231232 rs121918481 rs5897 rs121918479 rs121918482 rs121918478 rs121918480 


uniprotID: Q9Y3D7
geneSymbol: PAM16
reactome: R-HSA-1268020;
length: 125
go: ENSG00000217930;
snps: rs786203989 rs11989
name:
Mitochondrial import inner membrane translocase subunit TIM16 (Mitochondria-associated granulocyte macrophage CSF-signaling molecule) (Presequence translocated-associated motor subunit PAM16)

sequence:
MAKYLAQIIVMGVQVVGRAFARALRQEFAASRAAADARGRAGHRSAAASNLSGLSLQEAQQILNVSKLSPEEVQKNYEHLFKVNDKSVGGSFYLQSKVVRAKERLDEELKIQAQEDREKGQMPHT

opentargets:
extrinsic component of mitochondrial inner membrane [GO:0031314]; mitochondrial matrix [GO:0005759]; PAM complex, Tim23 associated import motor [GO:0001405]; protein-containing complex [GO:0032991]; TIM23 mitochondrial import inner membrane translocase complex [GO:0005744]; negative regulation of apoptotic DNA fragmentation [GO:1902511]; negative regulation of ATPase activity [GO:0032780]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; ossification [GO:0001503]; protein import into mitochondrial matrix [GO:0030150]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11750097, ECO:0000269|PubMed:20053669}; Peripheral membrane protein {ECO:0000269|PubMed:11750097, ECO:0000269|PubMed:20053669}; Matrix side {ECO:0000269|PubMed:11750097, ECO:0000269|PubMed:20053669}.


uniprotID: P20226
geneSymbol: TBP
pdb: 1C9B;1CDW;1JFI;1NVP;1TGH;4ROC;4ROD;4ROE;5FUR;5IY6;5IY7;5IY8;5IY9;5IYA;5IYB;5IYC;5IYD;5N9G;
length: 339
go: ENSG00000112592;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27007846}.
reactome:
R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-427359;R-HSA-427413;R-HSA-5250924;R-HSA-674695;R-HSA-6804756;R-HSA-6807505;R-HSA-73762;R-HSA-73772;R-HSA-73776;R-HSA-73777;R-HSA-73779;R-HSA-73863;R-HSA-749476;R-HSA-75953;R-HSA-76042;R-HSA-76061;R-HSA-76066;R-HSA-76071;R-HSA-9018519;

name:
TATA-box-binding protein (TATA sequence-binding protein) (TATA-binding factor) (TATA-box factor) (Transcription initiation factor TFIID TBP subunit)

sequence:

opentargets:
cytoplasm [GO:0005737]; female pronucleus [GO:0001939]; male pronucleus [GO:0001940]; nuclear chromatin [GO:0000790]; nuclear euchromatin [GO:0005719]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; transcription factor complex [GO:0005667]; transcription factor TFIIA complex [GO:0005672]; transcription factor TFIID complex [GO:0005669]; transcription factor TFIIIB complex [GO:0000126]; transcriptional preinitiation complex [GO:0097550]; aryl hydrocarbon receptor binding [GO:0017162]; core promoter binding [GO:0001047]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; proximal promoter sequence-specific DNA binding [GO:0000987]; repressing transcription factor binding [GO:0070491]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II general transcription initiation factor activity [GO:0016251]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II repressing transcription factor binding [GO:0001103]; RNA polymerase III general transcription initiation factor activity [GO:0000995]; RNA polymerase III regulatory region DNA binding [GO:0001016]; TFIIB-class transcription factor binding [GO:0001093]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; positive regulation of gene expression, epigenetic [GO:0045815]; 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]; RNA polymerase III preinitiation complex assembly [GO:0070898]; snRNA transcription by RNA polymerase II [GO:0042795]; spermatogenesis [GO:0007283]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase II [GO:0006366]; transcription by RNA polymerase III [GO:0006383]; transcription initiation from RNA polymerase I promoter [GO:0006361]; transcription initiation from RNA polymerase II promoter [GO:0006367]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P20226-1; Sequence=Displayed; Name=2; IsoId=P20226-2; Sequence=VSP_045488; Note=No experimental confirmation available.; 


uniprotID: Q8IYN2
geneSymbol: TCEAL8
length: 117
go: ENSG00000180964;
opentargets: nucleus [GO:0005634]; WW domain binding [GO:0050699]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Transcription elongation factor A protein-like 8 (TCEA-like protein 8) (Transcription elongation factor S-II protein-like 8)

sequence:
MQKSCEENEGKPQNMPKAEEDRPLEDVPQEAEGNPQPSEEGVSQEAEGNPRGGPNQPGQGFKEDTPVRHLDPEEMIRGVDELERLREEIRRVRNKFVMMHWKQRHSRSRPYPVCFRP


uniprotID: P68366
geneSymbol: TUBA4A
length: 448
go: ENSG00000127824;
drug: DB06772;DB05147;DB03010;DB01873;DB01179;DB05281;DB00541;
snps: rs730880029 rs730880028 rs730880025 rs730880026 rs368743618
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
reactome:
R-HSA-114608;R-HSA-1445148;R-HSA-190840;R-HSA-190861;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-2565942;R-HSA-3371497;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-389957;R-HSA-389960;R-HSA-389977;R-HSA-437239;R-HSA-5610787;R-HSA-5617833;R-HSA-5620912;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-8854518;R-HSA-8955332;R-HSA-983189;

name:
Tubulin alpha-4A chain (Alpha-tubulin 1) (Testis-specific alpha-tubulin) (Tubulin H2-alpha) (Tubulin alpha-1 chain)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein kinase binding [GO:0019901]; structural constituent of cytoskeleton [GO:0005200]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]; platelet degranulation [GO:0002576]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P68366-1; Sequence=Displayed; Name=2; IsoId=P68366-2; Sequence=VSP_055194; 


uniprotID: Q9UMR3
geneSymbol: TBX20
name: T-box transcription factor TBX20 (T-box protein 20)
length: 447
go: ENSG00000164532;
snps: rs267607106 rs137852954
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; 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 activating transcription factor binding [GO:0001102]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; RNA polymerase II transcription factor binding [GO:0001085]; transcription coactivator activity [GO:0003713]; aortic valve morphogenesis [GO:0003180]; atrial septum morphogenesis [GO:0060413]; blood circulation [GO:0008015]; branching involved in blood vessel morphogenesis [GO:0001569]; cardiac chamber formation [GO:0003207]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac right ventricle morphogenesis [GO:0003215]; cardiac septum development [GO:0003279]; cell proliferation [GO:0008283]; dorsal/ventral pattern formation [GO:0009953]; embryonic heart tube elongation [GO:0036306]; embryonic heart tube morphogenesis [GO:0003143]; endocardial cushion formation [GO:0003272]; endocardial cushion morphogenesis [GO:0003203]; endoderm formation [GO:0001706]; foramen ovale closure [GO:0035922]; heart looping [GO:0001947]; lateral mesoderm formation [GO:0048370]; muscle contraction [GO:0006936]; negative regulation of SMAD protein complex assembly [GO:0010991]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron migration [GO:0001764]; outflow tract septum morphogenesis [GO:0003148]; pericardium morphogenesis [GO:0003344]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; pulmonary valve formation [GO:0003193]; pulmonary vein morphogenesis [GO:0060577]; tricuspid valve development [GO:0003175]; visceral motor neuron differentiation [GO:0021524]


uniprotID: Q3ZCM7
geneSymbol: TUBB8
name: Tubulin beta-8 chain (Tubulin beta 8 class VIII)
length: 444
go: ENSG00000261456;
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-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]; extracellular exosome [GO:0070062]; meiotic spindle [GO:0072687]; 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]; oocyte maturation [GO:0001556]; spindle assembly involved in female meiosis [GO:0007056]

snps:
rs869025273 rs869025609 rs781853492 rs869025271 rs1057520306 rs782269374 rs869025610 rs782486119 rs869025612 rs4880608 rs869025611 rs869025272 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:26789871}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:26789871}.


uniprotID: Q9UP52
geneSymbol: TFR2
reactome: R-HSA-917977;
name: Transferrin receptor protein 2 (TfR2)
length: 801
go: ENSG00000106327;
drug: DB09412;DB05260;
snps: rs80338876 rs80338879 rs41303465 rs34242818 rs41303501 rs80338889 rs41295942
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; external side of plasma membrane [GO:0009897]; HFE-transferrin receptor complex [GO:1990712]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; co-receptor binding [GO:0039706]; transferrin receptor activity [GO:0004998]; transferrin transmembrane transporter activity [GO:0033570]; acute-phase response [GO:0006953]; cellular iron ion homeostasis [GO:0006879]; cellular response to iron ion [GO:0071281]; ferric iron import [GO:0033216]; iron ion homeostasis [GO:0055072]; iron ion import [GO:0097286]; iron ion transport [GO:0006826]; positive regulation of endocytosis [GO:0045807]; positive regulation of peptide hormone secretion [GO:0090277]; positive regulation of protein maturation [GO:1903319]; positive regulation of transcription by RNA polymerase II [GO:0045944]; receptor-mediated endocytosis [GO:0006898]; response to iron ion [GO:0010039]; transferrin transport [GO:0033572]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Alpha; IsoId=Q9UP52-1; Sequence=Displayed; Name=Beta; IsoId=Q9UP52-2; Sequence=VSP_005354; Name=Gamma; IsoId=Q9UP52-3; Sequence=VSP_005355; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: Isoform Beta: Cytoplasm {ECO:0000305}. Note=Lacks the transmembrane domain. Probably intracellular.


uniprotID: Q9UJW2
geneSymbol: TINAG
name: Tubulointerstitial nephritis antigen (TIN-Ag)
length: 476
go: ENSG00000137251;
snps: rs16885197 rs2297980 rs1058768 rs34011963 rs3736352
sequence:

opentargets:
basement membrane [GO:0005604]; extracellular space [GO:0005615]; cysteine-type endopeptidase activity [GO:0004197]; nucleotide binding [GO:0000166]; polysaccharide binding [GO:0030247]; scavenger receptor activity [GO:0005044]; cell adhesion [GO:0007155]; immune response [GO:0006955]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=TIN1 {ECO:0000269|PubMed:10752525}; IsoId=Q9UJW2-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=TIN2 {ECO:0000269|PubMed:10752525}; IsoId=Q9UJW2-2; Sequence=VSP_050567, VSP_050568; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269|PubMed:10752525, ECO:0000269|PubMed:1762287}.


uniprotID: O60602
geneSymbol: TLR5
reactome: R-HSA-168176;R-HSA-5602680;R-HSA-5603037;R-HSA-975871;
pdb: 1P95;3J0A;
name: Toll-like receptor 5 (Toll/interleukin-1 receptor-like protein 3)
length: 858
snps: rs764535 rs5744166 rs5744167 rs45528236 rs2072493 rs5744174 rs5744175 rs56243703 rs7512943
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; interleukin-1 receptor binding [GO:0005149]; transmembrane signaling receptor activity [GO:0004888]; cellular response to mechanical stimulus [GO:0071260]; defense response to bacterium [GO:0042742]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of toll-like receptor signaling pathway [GO:0034123]; regulation of cytokine secretion [GO:0050707]; toll-like receptor 5 signaling pathway [GO:0034146]


uniprotID: Q9BTD3
geneSymbol: TMEM121
name: Transmembrane protein 121
length: 319
go: ENSG00000184986;
opentargets: integral component of membrane [GO:0016021]
sequence:

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=May localize to the plasma membrane. {ECO:0000269|PubMed:15950185}.


uniprotID: Q96I99
geneSymbol: SUCLG2
reactome: R-HSA-71403;
length: 432
go: ENSG00000172340;
drug: DB00139;
snps: rs9843840 rs7623258
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03221}.
name:
Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial (EC 6.2.1.4) (GTP-specific succinyl-CoA synthetase subunit beta) (G-SCS) (GTPSCS) (Succinyl-CoA synthetase beta-G chain) (SCS-betaG)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; succinate-CoA ligase complex (GDP-forming) [GO:0045244]; ATP binding [GO:0005524]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; magnesium ion binding [GO:0000287]; protein heterodimerization activity [GO:0046982]; succinate-CoA ligase (ADP-forming) activity [GO:0004775]; succinate-CoA ligase (GDP-forming) activity [GO:0004776]; succinate metabolic process [GO:0006105]; succinyl-CoA metabolic process [GO:0006104]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96I99-1; Sequence=Displayed; Name=2; IsoId=Q96I99-2; Sequence=VSP_042013; Note=No experimental confirmation available.; 


uniprotID: Q6NXT6
geneSymbol: TAPT1
length: 567
go: ENSG00000169762;
snps: rs869312980 rs35606284 rs16893137
name:
Transmembrane anterior posterior transformation protein 1 homolog (Cytomegalovirus partial fusion receptor)

sequence:

opentargets:
centrosome [GO:0005813]; ciliary basal body [GO:0036064]; endoplasmic reticulum [GO:0005783]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; growth hormone-releasing hormone receptor activity [GO:0016520]; cartilage development [GO:0051216]; cell projection organization [GO:0030030]; embryonic skeletal system development [GO:0048706]; in utero embryonic development [GO:0001701]; maintenance of protein localization in endoplasmic reticulum [GO:0035437]; neural crest cell development [GO:0014032]; ossification [GO:0001503]; positive regulation of bone development [GO:1903012]; positive regulation of cartilage development [GO:0061036]; positive regulation of cilium assembly [GO:0045724]; post-embryonic development [GO:0009791]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NXT6-1; Sequence=Displayed; Name=2; IsoId=Q6NXT6-2; Sequence=VSP_032842; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:26365339}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:26365339}. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: O94901
geneSymbol: SUN1
reactome: R-HSA-1221632;
name: SUN domain-containing protein 1 (Protein unc-84 homolog A) (Sad1/unc-84 protein-like 1)
length: 812
go: ENSG00000164828;
snps: rs6461378 rs144929525
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of nuclear inner membrane [GO:0005639]; intracellular membrane-bounded organelle [GO:0043231]; meiotic nuclear membrane microtubule tethering complex [GO:0034993]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; lamin binding [GO:0005521]; protein membrane anchor [GO:0043495]; centrosome localization [GO:0051642]; cytoskeletal anchoring at nuclear membrane [GO:0090286]; meiotic attachment of telomere to nuclear envelope [GO:0070197]; nuclear envelope organization [GO:0006998]; nuclear matrix anchoring at nuclear membrane [GO:0090292]; nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration [GO:0021817]; ossification [GO:0001503]; response to mechanical stimulus [GO:0009612]; spermatogenesis [GO:0007283]; synapsis [GO:0007129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=O94901-1; Sequence=Displayed; Name=2; IsoId=O94901-2; Sequence=VSP_007743, VSP_007744; Note=No experimental confirmation available.; Name=3; IsoId=O94901-3; Sequence=VSP_007745, VSP_007746; Note=No experimental confirmation available.; Name=4; IsoId=O94901-4; Sequence=VSP_007741, VSP_007742; Name=5; IsoId=O94901-5; Sequence=VSP_037867, VSP_037868; Name=6; IsoId=O94901-6; Sequence=VSP_045815, VSP_045816; Note=No experimental confirmation available.; Name=7; IsoId=O94901-7; Sequence=VSP_046108, VSP_007743, VSP_007744; Note=No experimental confirmation available.; Name=8; IsoId=O94901-8; Sequence=VSP_046269; Note=No experimental confirmation available.; Name=9; IsoId=O94901-9; Sequence=VSP_047139, VSP_047140; Note=No experimental confirmation available. {ECO:0000244|PubMed:20068231}; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000269|PubMed:12958361, ECO:0000269|PubMed:16445915, ECO:0000269|PubMed:17132086, ECO:0000269|PubMed:18845190, ECO:0000269|PubMed:19933576}; Single-pass type II membrane protein {ECO:0000269|PubMed:12958361, ECO:0000269|PubMed:16445915, ECO:0000269|PubMed:17132086, ECO:0000269|PubMed:18845190, ECO:0000269|PubMed:19933576}. Note=At oocyte MI stage localized around the spindle, at MII stage localized to the spindle poles. {ECO:0000250|UniProtKB:Q9D666}.


uniprotID: Q8NFX7
geneSymbol: STXBP6
name: Syntaxin-binding protein 6 (Amisyn)
length: 210
go: ENSG00000168952;
sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; exocyst [GO:0000145]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cadherin binding involved in cell-cell adhesion [GO:0098641]; GTP-Rho binding [GO:0017049]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; exocyst localization [GO:0051601]; exocytosis [GO:0006887]; Golgi to plasma membrane transport [GO:0006893]; negative regulation of exocytosis [GO:0045920]; regulation of SNARE complex assembly [GO:0035542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NFX7-1; Sequence=Displayed; Name=2; IsoId=Q8NFX7-2; Sequence=VSP_008073; Note=May be due to an intron retention.; Name=3; IsoId=Q8NFX7-3; Sequence=VSP_008071, VSP_008072; Note=May be due to an intron retention.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12145319}. Membrane {ECO:0000269|PubMed:12145319}; Peripheral membrane protein {ECO:0000269|PubMed:12145319}.


uniprotID: P51687
geneSymbol: SUOX
reactome: R-HSA-1614517;
pdb: 1MJ4;
name: Sulfite oxidase, mitochondrial (EC 1.8.3.1)
length: 545
go: ENSG00000139531;
snps: rs121908007 rs121908008 rs1041681662 rs757559168 rs776690106 rs777114729 rs121908009
location: SUBCELLULAR LOCATION: Mitochondrion intermembrane space.
sequence:

opentargets:
mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; heme binding [GO:0020037]; molybdenum ion binding [GO:0030151]; molybdopterin cofactor binding [GO:0043546]; sulfite oxidase activity [GO:0008482]; nitrate assimilation [GO:0042128]; sulfide oxidation, using sulfide:quinone oxidoreductase [GO:0070221]; sulfur compound metabolic process [GO:0006790]


uniprotID: Q496J9
geneSymbol: SV2C
reactome: R-HSA-5250955;R-HSA-5250968;R-HSA-5250981;
pdb: 4JRA;5JLV;5MOY;6ES1;
name: Synaptic vesicle glycoprotein 2C
length: 727
go: ENSG00000122012;
snps: rs2270927 rs31244
sequence:

opentargets:
cell junction [GO:0030054]; integral component of membrane [GO:0016021]; integral component of synaptic vesicle membrane [GO:0030285]; 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]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q9Z2I6}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9Z2I6}. Note=Enriched in small synaptic vesicles and adrenal microsomes, not present in chromaffin granules. Associated with both insulin granules and synaptic-like microvesicles in insulin-secreting cells of the pancreas. {ECO:0000250|UniProtKB:Q9Z2I6}.


uniprotID: Q9H6P5
geneSymbol: TASP1
pdb: 2A8I;2A8J;2A8L;2A8M;
length: 420
go: ENSG00000089123;
name:
Threonine aspartase 1 (Taspase-1) (EC 3.4.25.-) [Cleaved into: Threonine aspartase subunit alpha; Threonine aspartase subunit beta]

sequence:

opentargets:
cytoplasm [GO:0005737]; hydrolase activity [GO:0016787]; identical protein binding [GO:0042802]; threonine-type endopeptidase activity [GO:0004298]; positive regulation of transcription, DNA-templated [GO:0045893]; protein maturation [GO:0051604]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H6P5-1; Sequence=Displayed; Name=2; IsoId=Q9H6P5-2; Sequence=VSP_056327, VSP_056328; Note=No experimental confirmation available.; Name=3; IsoId=Q9H6P5-3; Sequence=VSP_056533, VSP_056534; Note=No experimental confirmation available.; 


uniprotID: O14804
geneSymbol: TAAR5
reactome: R-HSA-375280;R-HSA-418555;
length: 337
go: ENSG00000135569;
snps: rs34746740 rs35839363
name:
Trace amine-associated receptor 5 (TaR-5) (Trace amine receptor 5) (hTaar5) (Putative neurotransmitter receptor)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; G protein-coupled receptor activity [GO:0004930]; trace-amine receptor activity [GO:0001594]; trimethylamine receptor activity [GO:1990081]; G protein-coupled receptor signaling pathway [GO:0007186]; sensory perception of chemical stimulus [GO:0007606]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23393561}; Multi-pass membrane protein {ECO:0000269|PubMed:23393561}.


uniprotID: Q6PEY2
geneSymbol: TUBA3E
name: Tubulin alpha-3E chain (Alpha-tubulin 3E) [Cleaved into: Detyrosinated tubulin alpha-3E chain]
length: 450
go: ENSG00000152086;
drug: DB05147;
snps: rs3863907 rs13000721 rs2261398 rs1052422 rs10208844
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]; microtubule cytoskeleton [GO:0015630]; nucleus [GO:0005634]; 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]


uniprotID: O95759
geneSymbol: TBC1D8
name: TBC1 domain family member 8 (AD 3) (Vascular Rab-GAP/TBC-containing protein)
length: 1140
go: ENSG00000204634;
snps: rs2289953 rs1062062 rs1057580 rs746924 rs3739011
sequence:

opentargets:
intracellular [GO:0005622]; membrane [GO:0016020]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; blood circulation [GO:0008015]; intracellular protein transport [GO:0006886]; positive regulation of cell proliferation [GO:0008284]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95759-1; Sequence=Displayed; Name=2; IsoId=O95759-2; Sequence=VSP_038340; Note=No experimental confirmation available.; 


uniprotID: Q86VP1
geneSymbol: TAX1BP1
reactome: R-HSA-5357905;R-HSA-936440;
pdb: 2M7Q;4BMJ;4NLH;4Z4K;4Z4M;5AAS;5YT6;
name: Tax1-binding protein 1 (TRAF6-binding protein)
length: 789
go: ENSG00000106052;
snps: rs7809260 rs11540483
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; kinase binding [GO:0019900]; metal ion binding [GO:0046872]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of type I interferon production [GO:0032480]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86VP1-1; Sequence=Displayed; Name=2; Synonyms=TXBP151-L; IsoId=Q86VP1-2; Sequence=VSP_018355; Name=3; Synonyms=TXBP151-S; IsoId=Q86VP1-3; Sequence=VSP_018354, VSP_018355; Name=4; IsoId=Q86VP1-4; Sequence=VSP_045921, VSP_018355; Note=No experimental confirmation available.; 


uniprotID: O95935
geneSymbol: TBX18
name: T-box transcription factor TBX18 (T-box protein 18)
length: 607
go: ENSG00000112837;
snps: rs172562 rs797045022 rs760905589
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201, ECO:0000269|PubMed:26235987}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; transcription corepressor activity [GO:0003714]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation [GO:0060829]; renal system development [GO:0072001]


uniprotID: B9ZVM9
geneSymbol: TCP10L2
name: T-complex protein 10A homolog 2 (T-complex 10-like protein 2)
length: 353
go: ENSG00000166984;
opentargets: nucleus [GO:0005634]
sequence:


uniprotID: Q12846
geneSymbol: STX4
reactome: R-HSA-114516;R-HSA-1236974;R-HSA-1445148;R-HSA-421837;R-HSA-449836;
name: Syntaxin-4 (Renal carcinoma antigen NY-REN-31)
length: 297
go: ENSG00000103496;
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; endomembrane system [GO:0012505]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; lamellipodium [GO:0030027]; lateral loop [GO:0043219]; membrane [GO:0016020]; myelin sheath adaxonal region [GO:0035749]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; presynaptic active zone membrane [GO:0048787]; presynaptic membrane [GO:0042734]; SNARE complex [GO:0031201]; somatodendritic compartment [GO:0036477]; specific granule [GO:0042581]; storage vacuole [GO:0000322]; synapse [GO:0045202]; synaptic vesicle [GO:0008021]; trans-Golgi network [GO:0005802]; vacuole [GO:0005773]; SNAP receptor activity [GO:0005484]; SNARE binding [GO:0000149]; sphingomyelin phosphodiesterase activator activity [GO:0016230]; cellular response to interferon-gamma [GO:0071346]; cytokine-mediated signaling pathway [GO:0019221]; exocytosis [GO:0006887]; intracellular protein transport [GO:0006886]; long-term synaptic potentiation [GO:0060291]; organelle fusion [GO:0048284]; positive regulation of catalytic activity [GO:0043085]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chemotaxis [GO:0050921]; positive regulation of eosinophil degranulation [GO:0043311]; positive regulation of immunoglobulin secretion [GO:0051024]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of protein localization to cell surface [GO:2000010]; positive regulation of protein localization to plasma membrane [GO:1903078]; regulation of exocytosis [GO:0017157]; regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902041]; response to hydroperoxide [GO:0033194]; SNARE complex assembly [GO:0035493]; synaptic vesicle fusion to presynaptic active zone membrane [GO:0031629]; vesicle docking [GO:0048278]; vesicle fusion [GO:0006906]; vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane [GO:1990668]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12846-1; Sequence=Displayed; Name=2; IsoId=Q12846-2; Sequence=VSP_054603; Note=No experimental confirmation available.; 

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


uniprotID: Q9H2D6
geneSymbol: TRIOBP
name: TRIO and F-actin-binding protein (Protein Tara) (Trio-associated repeat on actin)
length: 2365
go: ENSG00000100106;
snps: rs12628603 rs4821700 rs41302575 rs9610841 rs5756795 rs739138 rs8140207 rs8140958
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; nucleus [GO:0005634]; actin filament binding [GO:0051015]; GTP-Rho binding [GO:0017049]; myosin II binding [GO:0045159]; ubiquitin protein ligase binding [GO:0031625]; actin modification [GO:0030047]; auditory receptor cell stereocilium organization [GO:0060088]; barbed-end actin filament capping [GO:0051016]; cell cycle [GO:0007049]; cell division [GO:0051301]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=2; Synonyms=TRIOBP-6; IsoId=Q9H2D6-1; Sequence=Displayed; Name=3; Synonyms=Long isoform; IsoId=Q9H2D6-2; Sequence=VSP_017714, VSP_017715, VSP_017717; Name=4; Synonyms=TRIOBP-3; IsoId=Q9H2D6-3; Sequence=VSP_017712; Name=5; Synonyms=TRIOBP-4; IsoId=Q9H2D6-4; Sequence=VSP_017712, VSP_017713; Name=1; Synonyms=TRIOBP-1; IsoId=Q9H2D6-5; Sequence=VSP_017711, VSP_017716; Name=6; IsoId=Q9H2D6-6; Sequence=VSP_047498, VSP_047499, VSP_047500, VSP_047501; Note=No experimental confirmation available.; Name=7; IsoId=Q9H2D6-7; Sequence=VSP_047498, VSP_047499; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9853615}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9853615}. Note=Localized to F-actin in a periodic pattern.; SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:22820163}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:22820163}. Midbody {ECO:0000269|PubMed:22820163}. Note=Centrosomal localization occurs upon phosphorylation by PLK1 at Thr-457 and lasts from prophase to anaphase. At telophase, relocalizes to midbody.


uniprotID: Q8TC36
geneSymbol: SUN5
length: 379
go: ENSG00000167098;
name:
SUN domain-containing protein 5 (Sad1 and UNC84 domain-containing protein 5) (Sperm-associated antigen 4-like protein) (Testis and spermatogenesis-related gene 4 protein)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; meiotic nuclear membrane microtubule tethering complex [GO:0034993]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]; sperm connecting piece [GO:0097224]; protein membrane anchor [GO:0043495]; cytoskeletal anchoring at nuclear membrane [GO:0090286]; nuclear envelope organization [GO:0006998]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]

snps:
rs3746387 rs1133358 rs35216976 rs886041023 rs17123951 rs886041024 rs756459525 rs758335571 rs754130052 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000305|PubMed:27640305}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q9DA32}. Golgi apparatus {ECO:0000250|UniProtKB:Q9DA32}. Note=During spermiogenesis, traffics through the Golgi apparatus before reaching the round spermatid inner membrane of the nuclear envelope and later migrates to the coupling apparatus of the sperm during sperm head elongation and differentiation. In mature spermatozoa, is localized to the coupling apparatus of the sperm head and tail in the implementation fossa. {ECO:0000305|PubMed:27640305}.


uniprotID: O75683
geneSymbol: SURF6
name: Surfeit locus protein 6
length: 361
go: ENSG00000148296;
snps: rs886090 rs886089 rs34657219 rs35316446 rs1800867
sequence:

opentargets:
cytosolic large ribosomal subunit [GO:0022625]; granular component [GO:0001652]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; ribosomal large subunit biogenesis [GO:0042273]; ribosomal small subunit biogenesis [GO:0042274]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}. Note=Granular component of the nucleolus. {ECO:0000250}.


uniprotID: Q13395
geneSymbol: TARBP1
pdb: 2HA8;
length: 1621
go: ENSG00000059588;
name:
Probable methyltransferase TARBP1 (EC 2.1.1.-) (TAR RNA-binding protein 1) (TAR RNA-binding protein of 185 kDa) (TRP-185)

sequence:

opentargets:
nucleus [GO:0005634]; RNA binding [GO:0003723]; tRNA (guanine) methyltransferase activity [GO:0016423]; regulation of transcription by RNA polymerase II [GO:0006357]; tRNA methylation [GO:0030488]

snps:
rs12082990 rs10910439 rs35562024 rs4920246 rs2273872 rs4272658 rs12135427 rs3820602 rs3738616 rs2275654 


uniprotID: Q5VX71
geneSymbol: SUSD4
name: Sushi domain-containing protein 4
length: 490
go: ENSG00000143502;
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; negative regulation of complement activation, alternative pathway [GO:0045957]; negative regulation of complement activation, classical pathway [GO:0045959]; regulation of complement activation [GO:0030449]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=SUSD4a {ECO:0000303|PubMed:23482636}; IsoId=Q5VX71-1; Sequence=Displayed; Name=2; IsoId=Q5VX71-2; Sequence=VSP_020840, VSP_020843; Note=No experimental confirmation available.; Name=3; Synonyms=SUSD4b {ECO:0000303|PubMed:23482636}; IsoId=Q5VX71-3; Sequence=VSP_020841, VSP_020842; Note=No experimental confirmation available.; Name=4; IsoId=Q5VX71-4; Sequence=VSP_020838, VSP_020839; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305|PubMed:23482636}.


uniprotID: Q96RI8
geneSymbol: TAAR6
reactome: R-HSA-375280;R-HSA-418555;
name: Trace amine-associated receptor 6 (TaR-6) (Trace amine receptor 6) (Trace amine receptor 4) (TaR-4)
length: 345
go: ENSG00000146383;
snps: rs17061399 rs41298395 rs17061401 rs17061404 rs17061409 rs8192624 rs8192625 rs17061419
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q71U36
geneSymbol: TUBA1A
pdb: 5JCO;
length: 451
go: ENSG00000167552;
drug: DB00518;DB05147;DB03010;DB01873;DB00643;DB00570;
snps: rs137853045 rs137853046 rs137853043 rs587784483 rs137853044 rs137853044 rs137853047 rs1065730
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-2565942;R-HSA-3371497;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-389957;R-HSA-389960;R-HSA-389977;R-HSA-437239;R-HSA-5610787;R-HSA-5617833;R-HSA-5620912;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-8854518;R-HSA-8955332;R-HSA-983189;

name:
Tubulin alpha-1A chain (Alpha-tubulin 3) (Tubulin B-alpha-1) (Tubulin alpha-3 chain) [Cleaved into: Detyrosinated tubulin alpha-1A chain]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane raft [GO:0045121]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; myelin sheath [GO:0043209]; neuromuscular junction [GO:0031594]; nucleus [GO:0005634]; recycling endosome [GO:0055037]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein domain specific binding [GO:0019904]; structural constituent of cytoskeleton [GO:0005200]; structural molecule activity [GO:0005198]; cell division [GO:0051301]; ciliary basal body-plasma membrane docking [GO:0097711]; cytoskeleton-dependent intracellular transport [GO:0030705]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of synapse organization [GO:0050807]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q71U36-1; Sequence=Displayed; Name=2; IsoId=Q71U36-2; Sequence=VSP_046782; Note=No experimental confirmation available.; 


uniprotID: Q9H7F4
geneSymbol: TMEM185B
name: Transmembrane protein 185B (Protein FAM11B)
length: 350
go: ENSG00000226479;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P59536
geneSymbol: TAS2R41
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 41 (T2R41) (Taste receptor type 2 member 59) (T2R59)
length: 307
snps: rs10278721
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: Q6P1N9
geneSymbol: TATDN1
pdb: 2XIO;
name: Putative deoxyribonuclease TATDN1 (EC 3.1.21.-) (Hepatocarcinoma high expression protein)
length: 297
go: ENSG00000147687;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; 3'-5'-exodeoxyribonuclease activity [GO:0008296]; endodeoxyribonuclease activity, producing 5'-phosphomonoesters [GO:0016888]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P1N9-1; Sequence=Displayed; Name=2; IsoId=Q6P1N9-2; Sequence=VSP_030045; Note=No experimental confirmation available.; 


uniprotID: P23193
geneSymbol: TCEA1
pdb: 1TFI;3NDQ;5IY6;5IY7;5IY8;5IYA;5IYB;5IYC;
length: 301
go: ENSG00000187735;
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-112382;R-HSA-167152;R-HSA-167200;R-HSA-167238;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-674695;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-6796648;R-HSA-75955;

name:
Transcription elongation factor A protein 1 (Transcription elongation factor S-II protein 1) (Transcription elongation factor TFIIS.o)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor TFIID complex [GO:0005669]; DNA binding [GO:0003677]; zinc ion binding [GO:0008270]; positive regulation of exoribonuclease activity [GO:1901919]; regulation of transcription, DNA-templated [GO:0006355]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription-coupled nucleotide-excision repair [GO:0006283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P23193-1; Sequence=Displayed; Name=2; IsoId=P23193-2; Sequence=VSP_006409; 


uniprotID: Q96SF7
geneSymbol: TBX15
length: 602
go: ENSG00000092607;
snps: rs10494217
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
name:
T-box transcription factor TBX15 (T-box protein 15) (T-box transcription factor TBX14) (T-box protein 14)

sequence:

opentargets:
Tle3-Aes complex [GO:0070722]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; 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]; transcription corepressor activity [GO:0003714]; embryonic cranial skeleton morphogenesis [GO:0048701]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96SF7-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on similarity to orthologs.; Name=2; IsoId=Q96SF7-2; Sequence=VSP_040036; 


uniprotID: Q9BRU2
geneSymbol: TCEAL7
length: 100
go: ENSG00000182916;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18806825}.
name:
Transcription elongation factor A protein-like 7 (TCEA-like protein 7) (Transcription elongation factor S-II protein-like 7)

sequence:
MQKPCKENEGKPKCSVPKREEKRPYGEFERQQTEGNFRQRLLQSLEEFKEDIDYRHFKDEEMTREGDEMERCLEEIRGLRKKFRALHSNHRHSRDRPYPI

opentargets:
nucleus [GO:0005634]; WW domain binding [GO:0050699]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of transcription, DNA-templated [GO:0045892]


uniprotID: Q8N5T2
geneSymbol: TBC1D19
name: TBC1 domain family member 19
length: 526
go: ENSG00000109680;
opentargets: GTPase activator activity [GO:0005096]
snps: rs16878555 rs17852970
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N5T2-1; Sequence=Displayed; Name=2; IsoId=Q8N5T2-2; Sequence=VSP_053998; 


uniprotID: Q9P2M4
geneSymbol: TBC1D14
reactome: R-HSA-8854214;
pdb: 2QQ8;
name: TBC1 domain family member 14
length: 693
go: ENSG00000132405;
snps: rs34860182 rs11731231
sequence:

opentargets:
autophagosome [GO:0005776]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; recycling endosome [GO:0055037]; GTPase activator activity [GO:0005096]; protein kinase binding [GO:0019901]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; intracellular protein transport [GO:0006886]; negative regulation of autophagy [GO:0010507]; recycling endosome to Golgi transport [GO:0071955]; regulation of autophagosome assembly [GO:2000785]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2M4-1; Sequence=Displayed; Name=2; IsoId=Q9P2M4-2; Sequence=VSP_041460, VSP_041461; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network {ECO:0000269|PubMed:22613832}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:22613832}. Note=After amino acid starvation, Golgi apparatus-associated protein levels increase compared with fed conditions. May be cycling between the Golgi apparatus and an endosomal pool, redistributing to the Golgi apparatus upon starvation.


uniprotID: O75347
geneSymbol: TBCA
reactome: R-HSA-389977;
pdb: 1H7C;
name: Tubulin-specific chaperone A (TCP1-chaperonin cofactor A) (Tubulin-folding cofactor A) (CFA)
length: 108
go: ENSG00000171530;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
sequence:
MADPRVRQIKIKTGVVKRLVKEKVMYEKEAKQQEEKIEKMRAEDGENYDIKKQAEILQESRMMIPDCQRRLEAAYLDLQRILENEKDLEEAEEYKEARLVLDSVKLEA

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; nucleolus [GO:0005730]; beta-tubulin binding [GO:0048487]; chaperone binding [GO:0051087]; RNA binding [GO:0003723]; post-chaperonin tubulin folding pathway [GO:0007023]; protein folding [GO:0006457]; tubulin complex assembly [GO:0007021]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75347-1; Sequence=Displayed; Name=2; IsoId=O75347-2; Sequence=VSP_056357; Note=No experimental confirmation available.; 


uniprotID: P51864
geneSymbol: TDGF1P3
reactome: R-HSA-1181150;R-HSA-1433617;
length: 188
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18835250}.
name:
Putative teratocarcinoma-derived growth factor 3 (Cripto-3 growth factor) (Epidermal growth factor-like cripto protein CR3) (Teratocarcinoma-derived growth factor 1 pseudogene 3)

sequence:
MDCRKMVRFSYSVIWIMAISKAFELGLVAGLGHQEFARPSRGDLAFRDDSIWPQEEPAIRPRSSQRVLPMGIQHSKELNRTCCLNGGTCMLESFCACPPSFYGRNCEHDVRKENCGSVPHDTWLPKKCSLCKCWHGQLRCFPQAFLPGCDGLVMDEHLVASRTPELPPSARTTTFMLAGICLSIQSYY

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; activin receptor binding [GO:0070697]; growth factor activity [GO:0008083]; nodal binding [GO:0038100]; signaling receptor binding [GO:0005102]; anatomical structure development [GO:0048856]; anterior/posterior pattern specification [GO:0009952]; BMP signaling pathway [GO:0030509]; determination of left/right symmetry [GO:0007368]; heart development [GO:0007507]; nodal signaling pathway [GO:0038092]; signal transduction [GO:0007165]


uniprotID: P32780
geneSymbol: GTF2H1
pdb: 1PFJ;2DII;2RNR;2RUK;2RVB;5GOW;5XV8;
length: 548
go: ENSG00000110768;
snps: rs4150603 rs4150636 rs4150665
location: SUBCELLULAR LOCATION: Nucleus.
name:
General transcription factor IIH subunit 1 (Basic transcription factor 2 62 kDa subunit) (BTF2 p62) (General transcription factor IIH polypeptide 1) (TFIIH basal transcription factor complex p62 subunit)

sequence:

opentargets:
nucleoplasm [GO:0005654]; transcription factor TFIIH core complex [GO:0000439]; transcription factor TFIIH holo complex [GO:0005675]; chromatin binding [GO:0003682]; 7-methylguanosine mRNA capping [GO:0006370]; DNA repair [GO:0006281]; global genome nucleotide-excision repair [GO:0070911]; 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]; phosphorylation of RNA polymerase II C-terminal domain [GO:0070816]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase I [GO:0006360]; transcription by RNA polymerase II [GO:0006366]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P32780-1; Sequence=Displayed; Name=2; IsoId=P32780-2; Sequence=VSP_056562; Note=No experimental confirmation available.; 


uniprotID: O95455
geneSymbol: TGDS
name: dTDP-D-glucose 4,6-dehydratase (EC 4.2.1.46)
length: 350
go: ENSG00000088451;
opentargets: dTDP-glucose 4,6-dehydratase activity [GO:0008460]
snps: rs34991132 rs724160004 rs727502808 rs140430952 rs544436734 rs724160005
sequence:


uniprotID: Q8TEA7
geneSymbol: TBCK
name: TBC domain-containing protein kinase-like protein
length: 893
go: ENSG00000145348;
snps: rs35784409 rs35835241 rs34770077 rs3775091 rs34307452 rs34961213 rs2305685 rs869320711 rs35790205
sequence:

opentargets:
cytoplasm [GO:0005737]; midbody [GO:0030496]; mitotic spindle [GO:0072686]; ATP binding [GO:0005524]; GTPase activator activity [GO:0005096]; protein kinase activity [GO:0004672]; Rab GTPase binding [GO:0017137]; actin cytoskeleton organization [GO:0030036]; activation of GTPase activity [GO:0090630]; cell proliferation [GO:0008283]; intracellular protein transport [GO:0006886]; regulation of TOR signaling [GO:0032006]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:14702039}; IsoId=Q8TEA7-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q8TEA7-2; Sequence=VSP_052275; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:15489334}; IsoId=Q8TEA7-3; Sequence=VSP_052274; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23977024, ECO:0000269|PubMed:24576458}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:24576458}. Midbody {ECO:0000269|PubMed:24576458}. Note=Mainly localized in the cytoplasm during interphase. During metaphase, TBCK accumulates at the mitotic spindle. At the end of mitosis, it is detected at the midbody. {ECO:0000269|PubMed:24576458}.


uniprotID: Q9H853
geneSymbol: TUBA4B
name: Putative tubulin-like protein alpha-4B (Alpha-tubulin 4B)
length: 241
go: ENSG00000243910;
drug: DB05147;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

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


uniprotID: O60347
geneSymbol: TBC1D12
name: TBC1 domain family member 12
length: 775
go: ENSG00000108239;
sequence:


uniprotID: Q5H9L2
geneSymbol: TCEAL5
length: 206
go: ENSG00000204065;
opentargets: nucleus [GO:0005634]; WW domain binding [GO:0050699]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Transcription elongation factor A protein-like 5 (TCEA-like protein 5) (Transcription elongation factor S-II protein-like 5)

sequence:


uniprotID: Q9BUR4
geneSymbol: WRAP53
reactome: R-HSA-171319;R-HSA-390471;
length: 548
go: ENSG00000141499;
name:
Telomerase Cajal body protein 1 (WD repeat-containing protein 79) (WD40 repeat-containing protein antisense to TP53 gene) (WRAP53beta)

sequence:

opentargets:
Cajal body [GO:0015030]; chromosome, telomeric region [GO:0000781]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; site of double-strand break [GO:0035861]; telomerase holoenzyme complex [GO:0005697]; chaperone binding [GO:0051087]; histone binding [GO:0042393]; identical protein binding [GO:0042802]; protein-containing complex binding [GO:0044877]; RNA binding [GO:0003723]; telomerase RNA binding [GO:0070034]; ubiquitin protein ligase binding [GO:0031625]; Cajal body organization [GO:0030576]; DNA repair [GO:0006281]; positive regulation of DNA repair [GO:0045739]; positive regulation of double-strand break repair [GO:2000781]; positive regulation of double-strand break repair via homologous recombination [GO:1905168]; positive regulation of double-strand break repair via nonhomologous end joining [GO:2001034]; positive regulation of establishment of protein localization to telomere [GO:1904851]; positive regulation of telomerase activity [GO:0051973]; protein localization to Cajal body [GO:1904867]; RNA folding [GO:0034337]; scaRNA localization to Cajal body [GO:0090666]; telomerase RNA localization to Cajal body [GO:0090671]; telomere formation via telomerase [GO:0032203]; telomere maintenance via telomerase [GO:0007004]

snps:
rs17880282 rs2287499 rs34067256 rs281865547 rs35762939 rs281865549 rs281865548 rs281865550 rs35123152 rs7640 

location:
SUBCELLULAR LOCATION: Nucleus, Cajal body {ECO:0000269|PubMed:19179534, ECO:0000269|PubMed:19285445, ECO:0000269|PubMed:21072240, ECO:0000269|PubMed:22547674, ECO:0000269|PubMed:24318571, ECO:0000269|PubMed:26170453}. Chromosome, telomere {ECO:0000269|PubMed:22547674, ECO:0000269|PubMed:29804836}. Chromosome {ECO:0000269|PubMed:25512560, ECO:0000269|PubMed:26734725, ECO:0000269|PubMed:27715493}. Note=Released from telomerase RNA template component (TERC) in mitotic cells coincident with delocalization from Cajal bodies (PubMed:26170453). In response to DNA damage, localizes to sites of DNA double-strand breaks following phosphorylation by ATM (PubMed:26734725, PubMed:27715493). {ECO:0000269|PubMed:26170453, ECO:0000269|PubMed:26734725, ECO:0000269|PubMed:27715493}.


uniprotID: P53999
geneSymbol: SUB1
pdb: 1PCF;2C62;2PHE;4USG;
length: 127
go: ENSG00000113387;
snps: rs17850527
location: SUBCELLULAR LOCATION: Nucleus.
name:
Activated RNA polymerase II transcriptional coactivator p15 (Positive cofactor 4) (PC4) (SUB1 homolog) (p14)

sequence:
MPKSKELVSSSSSGSDSDSEVDKKLKRKKQVAPEKPVKKQKTGETSRALSSSKQSSSSRDDNMFQIGKMRYVSVRDFKGKVLIDIREYWMDPEGEMKPGRKGISLNPEQWSQLKEQISDIDDAVRKL

opentargets:
extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; sequence-specific double-stranded DNA binding [GO:1990837]; single-stranded DNA binding [GO:0003697]; transcription coactivator activity [GO:0003713]; positive regulation of transcription initiation from RNA polymerase II promoter [GO:0060261]; regulation of transcription by RNA polymerase II [GO:0006357]; SMAD protein signal transduction [GO:0060395]


uniprotID: Q16635
geneSymbol: TAZ
reactome: R-HSA-1268020;R-HSA-1482798;
name: Tafazzin (Protein G4.5)
length: 292
go: ENSG00000102125;
snps: rs104894942 rs104894937 rs132630277 rs387907218
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; 1-acylglycerophosphocholine O-acyltransferase activity [GO:0047184]; O-acyltransferase activity [GO:0008374]; cardiac muscle contraction [GO:0060048]; cardiac muscle tissue development [GO:0048738]; cardiolipin acyl-chain remodeling [GO:0035965]; cardiolipin biosynthetic process [GO:0032049]; cristae formation [GO:0042407]; heart development [GO:0007507]; hemopoiesis [GO:0030097]; inner mitochondrial membrane organization [GO:0007007]; mitochondrial ATP synthesis coupled electron transport [GO:0042775]; mitochondrial respiratory chain complex I assembly [GO:0032981]; muscle contraction [GO:0006936]; positive regulation of ATP biosynthetic process [GO:2001171]; positive regulation of cardiolipin metabolic process [GO:1900210]; regulation of gene expression [GO:0010468]; skeletal muscle tissue development [GO:0007519]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=Q16635-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q16635-2; Sequence=VSP_011609; Name=3; Synonyms=Del_exon_5; IsoId=Q16635-3; Sequence=VSP_004451; Name=4; Synonyms=Del_exon_6; IsoId=Q16635-4; Sequence=VSP_004452; Name=5; Synonyms=Del_exon_7; IsoId=Q16635-5; Sequence=VSP_004453; Name=6; IsoId=Q16635-6; Sequence=VSP_011609, VSP_004453; Name=7; IsoId=Q16635-7; Sequence=VSP_004451, VSP_004453; Name=8; IsoId=Q16635-8; Sequence=VSP_011609, VSP_004451; Name=9; IsoId=Q16635-9; Sequence=VSP_011609, VSP_004451, VSP_004453; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: Isoform 4: Membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: Isoform 5: Membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: Isoform 6: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 7: Membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: Isoform 8: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 9: Cytoplasm {ECO:0000305}.


uniprotID: Q4KMP7
geneSymbol: TBC1D10B
reactome: R-HSA-8854214;
name: TBC1 domain family member 10B (Rab27A-GAP-beta)
length: 808
go: ENSG00000169221;
sequence:

opentargets:
cytosol [GO:0005829]; 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]; regulation of GTPase activity [GO:0043087]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4KMP7-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on similarity to mouse ortholog.; Name=2; IsoId=Q4KMP7-2; Sequence=VSP_030670; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16923811}. Note=In melanocytes, located at the periphery of cells.


uniprotID: P49368
geneSymbol: CCT3
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 gamma (TCP-1-gamma) (CCT-gamma) (hTRiC5)
length: 545
go: ENSG00000163468;
drug: DB04395;
snps: rs2230194
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cell body [GO:0044297]; chaperonin-containing T-complex [GO:0005832]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microtubule [GO:0005874]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; 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]; pore complex assembly [GO:0046931]; 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]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49368-1; Sequence=Displayed; Name=2; IsoId=P49368-2; Sequence=VSP_042026; Note=No experimental confirmation available.; 


uniprotID: Q66K14
geneSymbol: TBC1D9B
name: TBC1 domain family member 9B
length: 1250
go: ENSG00000197226;
snps: rs1057078 rs10037618 rs30386
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; 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=2;  Name=1; IsoId=Q66K14-1; Sequence=Displayed; Name=2; IsoId=Q66K14-2; Sequence=VSP_025699; 


uniprotID: Q9Y4C2
geneSymbol: TCAF1
name: TRPM8 channel-associated factor 1 (TRP channel-associated factor 1)
length: 921
go: ENSG00000198420;
sequence:

opentargets:
plasma membrane [GO:0005886]; ion channel binding [GO:0044325]; negative regulation of cell migration [GO:0030336]; positive regulation of anion channel activity [GO:1901529]; positive regulation of protein targeting to membrane [GO:0090314]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y4C2-1; Sequence=Displayed; Name=2; IsoId=Q9Y4C2-2; Sequence=VSP_031631; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25559186}. Note=Colocalizes with TRPM8 on the plasma membrane. {ECO:0000269|PubMed:25559186}.


uniprotID: P17987
geneSymbol: TCP1
reactome: R-HSA-389957;R-HSA-389960;R-HSA-390450;R-HSA-390471;R-HSA-5620922;R-HSA-6814122;R-HSA-8950505;
name: T-complex protein 1 subunit alpha (TCP-1-alpha) (CCT-alpha)
length: 556
go: ENSG00000120438;
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cell body [GO:0044297]; centrosome [GO:0005813]; chaperonin-containing T-complex [GO:0005832]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; myelin sheath [GO:0043209]; nuclear heterochromatin [GO:0005720]; pericentriolar material [GO:0000242]; zona pellucida receptor complex [GO:0002199]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; binding of sperm to zona pellucida [GO:0007339]; interleukin-12-mediated signaling pathway [GO:0035722]; 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]; regulation of macrophage apoptotic process [GO:2000109]; scaRNA localization to Cajal body [GO:0090666]; toxin transport [GO:1901998]; translocation of peptides or proteins into host cell cytoplasm [GO:0044053]; tubulin complex assembly [GO:0007021]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:1630492}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:20080638}.


uniprotID: Q8TC07
geneSymbol: TBC1D15
reactome: R-HSA-8854214;
name: TBC1 domain family member 15 (GTPase-activating protein RAB7) (GAP for RAB7) (Rab7-GAP)
length: 691
go: ENSG00000121749;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; intracellular protein transport [GO:0006886]; regulation of GTPase activity [GO:0043087]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TC07-1; Sequence=Displayed; Name=2; IsoId=Q8TC07-2; Sequence=VSP_023094; Name=3; IsoId=Q8TC07-3; Sequence=VSP_046402, VSP_023094; Note=No experimental confirmation available. {ECO:0000244|PubMed:19690332, ECO:0000244|PubMed:21406692}; 


uniprotID: Q5QJ74
geneSymbol: TBCEL
name: Tubulin-specific chaperone cofactor E-like protein (EL) (Leucine-rich repeat-containing protein 35)
length: 424
go: ENSG00000154114;
opentargets: cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:


uniprotID: Q9BXI6
geneSymbol: TBC1D10A
reactome: R-HSA-8854214;
name: TBC1 domain family member 10A (EBP50-PDX interactor of 64 kDa) (EPI64 protein) (Rab27A-GAP-alpha)
length: 508
go: ENSG00000099992;
snps: rs4823086
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; PDZ domain binding [GO:0030165]; Rab GTPase binding [GO:0017137]; activation of cysteine-type endopeptidase activity [GO:0097202]; activation of GTPase activity [GO:0090630]; intracellular protein transport [GO:0006886]; positive regulation of proteolysis [GO:0045862]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXI6-1; Sequence=Displayed; Name=2; IsoId=Q9BXI6-2; Sequence=VSP_043119; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, microvillus {ECO:0000269|PubMed:16923811}. Note=Localizes to the microvilli-rich region of the syncytiotrophoblast. In melanocytes, located at the periphery of cells.


uniprotID: Q00403
geneSymbol: GTF2B
pdb: 1C9B;1DL6;1RLY;1RO4;1TFB;1VOL;2PHG;5IY6;5IY7;5IY8;5IY9;5IYA;5IYB;5IYC;5IYD;5WH1;
name: Transcription initiation factor IIB (EC 2.3.1.48) (General transcription factor TFIIB) (S300-II)
length: 316
go: ENSG00000137947;
snps: rs1804499 rs144944840
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;

sequence:

opentargets:
chromosome [GO:0005694]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; RNA polymerase II transcription factor complex [GO:0090575]; transcription factor TFIID complex [GO:0005669]; transcriptional preinitiation complex [GO:0097550]; acetyltransferase activity [GO:0016407]; core promoter binding [GO:0001047]; histone acetyltransferase activity [GO:0004402]; promoter-specific chromatin binding [GO:1990841]; RNA polymerase II complex binding [GO:0000993]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; TBP-class protein binding [GO:0017025]; thyroid hormone receptor binding [GO:0046966]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of core promoter binding [GO:1904798]; positive regulation of transcription initiation from RNA polymerase II promoter [GO:0060261]; positive regulation of viral transcription [GO:0050434]; protein acetylation [GO:0006473]; RNA polymerase II core complex assembly [GO:1990114]; RNA polymerase II preinitiation complex assembly [GO:0051123]; 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 start site selection at RNA polymerase II promoter [GO:0001174]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12931194}. Chromosome {ECO:0000269|PubMed:24441171}. Note=Non-acetylated form colocalizes with DNA in the G0/1, S and G2 phases of the cell cycle, but not during mitosis (PubMed:24441171). Acetylated form colocalizes at transcriptionally silent mitotic chromatids during mitosis at metaphase, anaphase, and telophase phases of the cell cycle (PubMed:24441171). {ECO:0000269|PubMed:24441171}.


uniprotID: Q8WUA7
geneSymbol: TBC1D22A
pdb: 2QFZ;
name: TBC1 domain family member 22A
length: 517
go: ENSG00000054611;
sequence:

opentargets:
intracellular [GO:0005622]; 14-3-3 protein binding [GO:0071889]; GTPase activator activity [GO:0005096]; protein homodimerization activity [GO:0042803]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8WUA7-1; Sequence=Displayed; Name=2; IsoId=Q8WUA7-2; Sequence=VSP_010382, VSP_010383; Note=No experimental confirmation available.; Name=3; IsoId=Q8WUA7-3; Sequence=VSP_015142, VSP_015143, VSP_015144; Note=No experimental confirmation available.; Name=4; IsoId=Q8WUA7-4; Sequence=VSP_015142; Note=No experimental confirmation available.; 


uniprotID: O75333
geneSymbol: TBX10
name: T-box transcription factor TBX10 (T-box protein 10)
length: 385
go: ENSG00000167800;
snps: rs3758938 rs11227873
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; anatomical structure morphogenesis [GO:0009653]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q6ZT07
geneSymbol: TBC1D9
name: TBC1 domain family member 9 (TBC1 domain family member 9A)
length: 1266
go: ENSG00000109436;
snps: rs13108827 rs13118702
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]


uniprotID: Q9Y242
geneSymbol: TCF19
name: Transcription factor 19 (TCF-19) (Transcription factor SC1)
length: 345
go: ENSG00000137310;
snps: rs7750641 rs2073721 rs2073724
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; cell proliferation [GO:0008283]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q3MII6
geneSymbol: TBC1D25
reactome: R-HSA-8854214;
name: TBC1 domain family member 25
length: 688
go: ENSG00000068354;
snps: rs2293948
sequence:

opentargets:
autophagosome [GO:0005776]; cytoplasmic vesicle [GO:0031410]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; autophagy [GO:0006914]; intracellular protein transport [GO:0006886]; regulation of autophagosome maturation [GO:1901096]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3MII6-1; Sequence=Displayed; Name=2; IsoId=Q3MII6-2; Sequence=VSP_025703, VSP_025704; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21383079}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:21383079}. Note=It is dispersed in the cytoplasm under nutrient-rich conditions. Localizes at autophagosomes under cell starving conditions.


uniprotID: P50990
geneSymbol: CCT8
reactome: R-HSA-389957;R-HSA-389960;R-HSA-390450;R-HSA-390471;R-HSA-5620922;R-HSA-6798695;R-HSA-6814122;
length: 548
go: ENSG00000156261;
snps: rs16983693 rs8129954
name:
T-complex protein 1 subunit theta (TCP-1-theta) (CCT-theta) (Chaperonin containing T-complex polypeptide 1 subunit 8) (Renal carcinoma antigen NY-REN-15)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cell body [GO:0044297]; centrosome [GO:0005813]; chaperonin-containing T-complex [GO:0005832]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; intermediate filament cytoskeleton [GO:0045111]; microtubule [GO:0005874]; nucleoplasm [GO:0005654]; secretory granule lumen [GO:0034774]; zona pellucida receptor complex [GO:0002199]; ATP binding [GO:0005524]; ATPase activity, coupled [GO:0042623]; cadherin binding [GO:0045296]; unfolded protein binding [GO:0051082]; binding of sperm to zona pellucida [GO:0007339]; neutrophil degranulation [GO:0043312]; pore complex assembly [GO:0046931]; 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]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P50990-1; Sequence=Displayed; Name=2; IsoId=P50990-2; Sequence=VSP_054692; Note=No experimental confirmation available.; Name=3; IsoId=P50990-3; Sequence=VSP_054691; 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}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:P42932}.


uniprotID: Q3YBR2
geneSymbol: TBRG1
pdb: 2WZO;
name: Transforming growth factor beta regulator 1 (Nuclear interactor of ARF and Mdm2)
length: 411
go: ENSG00000154144;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17110379}.
sequence:

opentargets:
nucleus [GO:0005634]; cell cycle arrest [GO:0007050]; DNA replication [GO:0006260]; negative regulation of cell proliferation [GO:0008285]; protein localization to nucleoplasm [GO:1990173]; protein stabilization [GO:0050821]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3YBR2-1; Sequence=Displayed; Name=2; IsoId=Q3YBR2-2; Sequence=VSP_022645; Name=3; IsoId=Q3YBR2-3; Sequence=VSP_022644; 


uniprotID: A0A087WVF3
geneSymbol: TBC1D3D
name: TBC1 domain family member 3D
length: 549
go: ENSG00000274419;
sequence:


uniprotID: Q9HA65
geneSymbol: TBC1D17
reactome: R-HSA-8854214;
name: TBC1 domain family member 17
length: 648
snps: rs8109661 rs3745486
location: SUBCELLULAR LOCATION: Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:24752605}.
sequence:

opentargets:
autophagosome [GO:0005776]; cytosol [GO:0005829]; recycling endosome [GO:0055037]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; autophagy [GO:0006914]; intracellular protein transport [GO:0006886]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HA65-1; Sequence=Displayed; Name=2; IsoId=Q9HA65-2; Sequence=VSP_047344; Note=No experimental confirmation available.; Name=3; IsoId=Q9HA65-3; Sequence=VSP_053997; 


uniprotID: Q9NUY8
geneSymbol: TBC1D23
name: TBC1 domain family member 23 (HCV non-structural protein 4A-transactivated protein 1)
length: 699
go: ENSG00000036054;
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; trans-Golgi network [GO:0005802]; WASH complex [GO:0071203]; brain development [GO:0007420]; embryonic brain development [GO:1990403]; neuron projection development [GO:0031175]; positive regulation of interleukin-6 production [GO:0032755]; regulation of inflammatory response [GO:0050727]; regulation of tumor necrosis factor production [GO:0032680]; retrograde transport, endosome to Golgi [GO:0042147]; vesicle tethering to Golgi [GO:0099041]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NUY8-1; Sequence=Displayed; Name=2; IsoId=Q9NUY8-2; Sequence=VSP_025519; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:28823706, ECO:0000269|PubMed:29084197, ECO:0000269|PubMed:29426865}. Cytoplasmic vesicle {ECO:0000269|PubMed:29426865}. Note=Localization to the trans-Golgi is regulated by ARL1 and ARL5B/ARL8. ARL1 increases Golgi localization, while ARL5B decreases it. Recruitment to the trans-Golgi network requires the presence of GOLGA1 and GOLGA4, but not that of FAM91A1 (PubMed:29084197, PubMed:28823706). Recruited on AP-1-derived vesicles by WDR11 complex (PubMed:29426865). {ECO:0000269|PubMed:28823706, ECO:0000269|PubMed:29084197, ECO:0000269|PubMed:29426865}.


uniprotID: O14776
geneSymbol: TCERG1
length: 1098
go: ENSG00000113649;
pdb:
2DK7;2DOD;2DOE;2DOF;2E71;2KIQ;2KIS;2MW9;2MWA;2MWB;2MWD;2MWE;2MWF;2N4R;2N4S;2N4T;2N4U;2N4V;2N4W;2NNT;3HFH;3Q1I;4FQG;

name:
Transcription elongation regulator 1 (TATA box-binding protein-associated factor 2S) (Transcription factor CA150)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; proline-rich region binding [GO:0070064]; RNA binding [GO:0003723]; RNA polymerase binding [GO:0070063]; RNA polymerase II repressing transcription factor binding [GO:0001103]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; negative regulation of transcription by RNA polymerase II [GO:0000122]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14776-1; Sequence=Displayed; Name=2; IsoId=O14776-2; Sequence=VSP_026933; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10908677, ECO:0000269|PubMed:15485897, ECO:0000269|PubMed:9315662}.


uniprotID: Q9HD45
geneSymbol: TM9SF3
name: Transmembrane 9 superfamily member 3 (EP70-P-iso) (SM-11044-binding protein)
length: 589
go: ENSG00000077147;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; protein localization to membrane [GO:0072657]


uniprotID: Q8N2M4
geneSymbol: TMEM86A
name: Lysoplasmalogenase-like protein TMEM86A (Transmembrane protein 86A)
length: 240
go: ENSG00000151117;
snps: rs7945285
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; alkenylglycerophosphocholine hydrolase activity [GO:0047408]; alkenylglycerophosphoethanolamine hydrolase activity [GO:0047409]; ether lipid metabolic process [GO:0046485]


uniprotID: Q9H3N1
geneSymbol: TMX1
pdb: 1X5E;
length: 280
go: ENSG00000139921;
name:
Thioredoxin-related transmembrane protein 1 (Thioredoxin domain-containing protein 1) (Transmembrane Trx-related protein)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; disulfide oxidoreductase activity [GO:0015036]; cell redox homeostasis [GO:0045454]; response to endoplasmic reticulum stress [GO:0034976]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Predominantly found in the endoplasmic reticulum. {ECO:0000269|PubMed:11152479}.


uniprotID: Q9Y320
geneSymbol: TMX2
pdb: 2DJ0;
length: 296
go: ENSG00000213593;
opentargets: cell [GO:0005623]; integral component of membrane [GO:0016021]; cell redox homeostasis [GO:0045454]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Thioredoxin-related transmembrane protein 2 (Cell proliferation-inducing gene 26 protein) (Thioredoxin domain-containing protein 14)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y320-1; Sequence=Displayed; Name=2; IsoId=Q9Y320-2; Sequence=VSP_030696; 


uniprotID: P0CAT3
geneSymbol: TLX1NB
name: Putative TLX1 neighbor protein (TLX1 divergent gene protein)
length: 122
sequence:
MAPLQLLHPWGRRGAWASQHSLLSQEAMGPGEGAEPTPWGYLRAEHWGASPSGAPTLPFAPDECSLTPGSPPHPLNKQKHHPPHPSQTQKDLVPRSPQLEKSRIRLRRTLRNLGGGRGQRGQ


uniprotID: Q86X45
geneSymbol: LRRC6
length: 466
go: ENSG00000129295;
snps: rs397514596 rs200321595 rs2293979 rs9297853
name:
Protein tilB homolog (Leucine-rich repeat-containing protein 6) (Leucine-rich testis-specific protein) (Testis-specific leucine-rich repeat protein)

sequence:

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; motile cilium [GO:0031514]; cilium assembly [GO:0060271]; cilium movement [GO:0003341]; cytoskeleton organization [GO:0007010]; epithelial cilium movement involved in determination of left/right asymmetry [GO:0060287]; flagellated sperm motility [GO:0030317]; inner dynein arm assembly [GO:0036159]; male gonad development [GO:0008584]; motile cilium assembly [GO:0044458]; outer dynein arm assembly [GO:0036158]; reproductive system development [GO:0061458]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86X45-1; Sequence=Displayed; Name=2; IsoId=Q86X45-2; Sequence=VSP_015862, VSP_015863; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23122589}. Cell projection, cilium {ECO:0000269|PubMed:23122589}.


uniprotID: Q96DA6
geneSymbol: DNAJC19
reactome: R-HSA-1268020;
name: Mitochondrial import inner membrane translocase subunit TIM14 (DnaJ homolog subfamily C member 19)
length: 116
go: ENSG00000205981;
sequence:
MASTVVAVGLTIAAAGFAGRYVLQAMKHMEPQVKQVFQSLPKSAFSGGYYRGGFEPKMTKREAALILGVSPTANKGKIRDAHRRIMLLNHPDKGGSPYIAAKINEAKDLLEGQAKK

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; PAM complex, Tim23 associated import motor [GO:0001405]; protein-containing complex [GO:0032991]; ATPase activator activity [GO:0001671]; genitalia development [GO:0048806]; protein folding [GO:0006457]; protein import into mitochondrial matrix [GO:0030150]; protein targeting to mitochondrion [GO:0006626]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DA6-1; Sequence=Displayed; Name=2; IsoId=Q96DA6-2; Sequence=VSP_047119; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12592411}; Single-pass membrane protein {ECO:0000305|PubMed:12592411}.


uniprotID: O60603
geneSymbol: TLR2
pdb: 1FYW;1FYX;1O77;2Z7X;2Z80;
name: Toll-like receptor 2 (Toll/interleukin-1 receptor-like protein 4) (CD antigen CD282)
length: 784
go: ENSG00000137462;
drug: DB00045;DB03963;DB05475;
snps: rs137853176 rs5743699 rs61735277 rs5743703 rs5743704 rs137853177 rs121917864 rs5743706 rs5743708
reactome:
R-HSA-1236974;R-HSA-1461957;R-HSA-166058;R-HSA-168179;R-HSA-168188;R-HSA-5602498;R-HSA-5603041;R-HSA-5686938;R-HSA-6798695;

sequence:

opentargets:
cell body [GO:0044297]; cell projection [GO:0042995]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; intrinsic component of plasma membrane [GO:0031226]; membrane raft [GO:0045121]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; Toll-like receptor 1-Toll-like receptor 2 protein complex [GO:0035354]; amyloid-beta binding [GO:0001540]; identical protein binding [GO:0042802]; lipopolysaccharide binding [GO:0001530]; lipopolysaccharide receptor activity [GO:0001875]; peptidoglycan binding [GO:0042834]; protein heterodimerization activity [GO:0046982]; protein-containing complex binding [GO:0044877]; signaling pattern recognition receptor activity [GO:0008329]; signaling receptor activity [GO:0038023]; Toll-like receptor binding [GO:0035325]; triacyl lipopeptide binding [GO:0042497]; apoptotic process [GO:0006915]; cell activation [GO:0001775]; cellular response to bacterial lipopeptide [GO:0071221]; cellular response to diacyl bacterial lipopeptide [GO:0071726]; cellular response to interferon-gamma [GO:0071346]; cellular response to lipoteichoic acid [GO:0071223]; cellular response to triacyl bacterial lipopeptide [GO:0071727]; central nervous system myelin formation [GO:0032289]; cytokine secretion involved in immune response [GO:0002374]; defense response to Gram-positive bacterium [GO:0050830]; detection of diacyl bacterial lipopeptide [GO:0042496]; detection of triacyl bacterial lipopeptide [GO:0042495]; I-kappaB phosphorylation [GO:0007252]; immune response [GO:0006955]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-10 production [GO:0032613]; learning [GO:0007612]; leukotriene metabolic process [GO:0006691]; microglia development [GO:0014005]; microglial cell activation [GO:0001774]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of cell proliferation [GO:0008285]; negative regulation of phagocytosis [GO:0050765]; negative regulation of synapse assembly [GO:0051964]; neutrophil degranulation [GO:0043312]; nitric oxide metabolic process [GO:0046209]; positive regulation of cellular response to macrophage colony-stimulating factor stimulus [GO:1903974]; positive regulation of chemokine production [GO:0032722]; positive regulation of gene expression [GO:0010628]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-18 production [GO:0032741]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of interleukin-8 secretion [GO:2000484]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of nitric-oxide synthase biosynthetic process [GO:0051770]; positive regulation of oligodendrocyte differentiation [GO:0048714]; positive regulation of toll-like receptor signaling pathway [GO:0034123]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of Wnt signaling pathway [GO:0030177]; response to fatty acid [GO:0070542]; response to hypoxia [GO:0001666]; response to insulin [GO:0032868]; response to progesterone [GO:0032570]; response to toxic substance [GO:0009636]; signal transduction [GO:0007165]; toll-like receptor 2 signaling pathway [GO:0034134]; toll-like receptor signaling pathway [GO:0002224]; toll-like receptor TLR1:TLR2 signaling pathway [GO:0038123]; toll-like receptor TLR6:TLR2 signaling pathway [GO:0038124]; tumor necrosis factor production [GO:0032640]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q9QUN7}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:Q9QUN7}; Single-pass type I membrane protein {ECO:0000255}. Membrane raft {ECO:0000269|PubMed:16880211}. Note=Does not reside in lipid rafts before stimulation but accumulates increasingly in the raft upon the presence of the microbial ligand. In response to diacylated lipoproteins, TLR2:TLR6 heterodimers are recruited in lipid rafts, this recruitment determines the intracellular targeting to the Golgi apparatus. Triacylated lipoproteins induce the same mechanism for TLR2:TLR1 heterodimers. {ECO:0000269|PubMed:16880211}.


uniprotID: P25942
geneSymbol: CD40
reactome: R-HSA-198933;R-HSA-5668541;R-HSA-5676594;
pdb: 1CDF;1CZZ;1D00;1FLL;1LB6;3QD6;5DMI;5DMJ;5IHL;6FAX;
length: 277
go: ENSG00000101017;
snps: rs750234130 rs28931586 rs11569321 rs11086998
name:
Tumor necrosis factor receptor superfamily member 5 (B-cell surface antigen CD40) (Bp50) (CD40L receptor) (CDw40) (CD antigen CD40)

sequence:

opentargets:
CD40 receptor complex [GO:0035631]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; varicosity [GO:0043196]; antigen binding [GO:0003823]; enzyme binding [GO:0019899]; protein domain specific binding [GO:0019904]; signaling receptor activity [GO:0038023]; ubiquitin protein ligase binding [GO:0031625]; B cell proliferation [GO:0042100]; cellular calcium ion homeostasis [GO:0006874]; cellular response to erythropoietin [GO:0036018]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to mechanical stimulus [GO:0071260]; defense response to protozoan [GO:0042832]; defense response to virus [GO:0051607]; immune response-regulating cell surface receptor signaling pathway [GO:0002768]; inflammatory response [GO:0006954]; platelet activation [GO:0030168]; positive regulation of angiogenesis [GO:0045766]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of GTPase activity [GO:0043547]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of isotype switching to IgG isotypes [GO:0048304]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein kinase C signaling [GO:0090037]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; protein kinase B signaling [GO:0043491]; protein-containing complex assembly [GO:0065003]; regulation of immune response [GO:0050776]; regulation of immunoglobulin secretion [GO:0051023]; response to cobalamin [GO:0033590]; response to interferon-gamma [GO:0034341]; response to peptide [GO:1901652]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=I; IsoId=P25942-1; Sequence=Displayed; Name=II; IsoId=P25942-2; Sequence=VSP_006472, VSP_006473; 

location:
SUBCELLULAR LOCATION: Isoform I: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform II: Secreted.


uniprotID: Q8IY51
geneSymbol: TIGD4
name: Tigger transposable element-derived protein 4
length: 512
go: ENSG00000169989;
opentargets: nucleus [GO:0005634]; DNA binding [GO:0003677]
snps: rs34432931 rs4696354 rs35581576
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q7Z403
geneSymbol: TMC6
reactome: R-HSA-6798695;
name: Transmembrane channel-like protein 6 (Epidermodysplasia verruciformis protein 1) (Protein LAK-4)
length: 805
go: ENSG00000141524;
snps: rs2748427 rs12449858 rs34712518
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; ion channel activity [GO:0005216]; mechanosensitive ion channel activity [GO:0008381]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Large EVER1; IsoId=Q7Z403-1; Sequence=Displayed; Name=2; Synonyms=Small EVER1; IsoId=Q7Z403-2; Sequence=VSP_016439; Name=3; IsoId=Q7Z403-3; Sequence=VSP_016437, VSP_016440; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z403-4; Sequence=VSP_016438, VSP_016441, VSP_016442; Note=No experimental confirmation available.; 

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


uniprotID: P63316
geneSymbol: TNNC1
reactome: R-HSA-390522;
name: Troponin C, slow skeletal and cardiac muscles (TN-C)
length: 161
go: ENSG00000114854;
drug: DB01375;DB01244;DB01373;DB01023;DB00922;DB04513;DB00831;
snps: rs267607125 rs267607123 rs267607126 rs397516847 rs267607124
pdb:
1AP4;1IH0;1J1D;1J1E;1LXF;1MXL;1OZS;1SPY;1WRK;1WRL;2JT0;2JT3;2JT8;2JTZ;2JXL;2KDH;2KFX;2KGB;2KRD;2L1R;2L98;2MKP;2MLE;2MLF;2MZP;2N79;2N7L;3RV5;3SD6;3SWB;4GJE;4GJF;4GJG;4Y99;5VLN;5W88;5WCL;

sequence:
MDDIYKAAVEQLTEEQKNEFKAAFDIFVLGAEDGCISTKELGKVMRMLGQNPTPEELQEMIDEVDEDGSGTVDFDEFLVMMVRCMKDDSKGKSEEELSDLFRMFDKNADGYIDLDELKIMLQATGETITEDDIEELMKDGDKNNDGRIDYDEFLEFMKGVE

opentargets:
cardiac Troponin complex [GO:1990584]; cytosol [GO:0005829]; troponin complex [GO:0005861]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; protein homodimerization activity [GO:0042803]; troponin I binding [GO:0031013]; troponin T binding [GO:0031014]; cardiac muscle contraction [GO:0060048]; diaphragm contraction [GO:0002086]; muscle filament sliding [GO:0030049]; regulation of ATPase activity [GO:0043462]; regulation of muscle contraction [GO:0006937]; regulation of muscle filament sliding speed [GO:0032972]; response to metal ion [GO:0010038]; skeletal muscle contraction [GO:0003009]; transition between fast and slow fiber [GO:0014883]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]


uniprotID: P08138
geneSymbol: NGFR
pdb: 2N80;2N83;2N97;3EWV;
length: 427
go: ENSG00000064300;
snps: rs2072446
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
reactome:
R-HSA-193634;R-HSA-193648;R-HSA-193670;R-HSA-193681;R-HSA-193692;R-HSA-205017;R-HSA-205025;R-HSA-205043;R-HSA-209543;R-HSA-209560;R-HSA-209563;

name:
Tumor necrosis factor receptor superfamily member 16 (Gp80-LNGFR) (Low affinity neurotrophin receptor p75NTR) (Low-affinity nerve growth factor receptor) (NGF receptor) (p75 ICD) (CD antigen CD271)

sequence:

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; endosome [GO:0005768]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; calmodulin binding [GO:0005516]; coreceptor activity [GO:0015026]; death receptor activity [GO:0005035]; nerve growth factor binding [GO:0048406]; neurotrophin binding [GO:0043121]; Rab GTPase binding [GO:0017137]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; ubiquitin protein ligase binding [GO:0031625]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; cellular glucose homeostasis [GO:0001678]; cellular response to amyloid-beta [GO:1904646]; circadian regulation of gene expression [GO:0032922]; glucose homeostasis [GO:0042593]; intracellular protein transport [GO:0006886]; membrane protein intracellular domain proteolysis [GO:0031293]; negative regulation of apoptotic process [GO:0043066]; negative regulation of axonogenesis [GO:0050771]; negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:1903588]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; neuron apoptotic process [GO:0051402]; neurotrophin TRK receptor signaling pathway [GO:0048011]; positive regulation of apoptotic process [GO:0043065]; positive regulation of axonogenesis [GO:0050772]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of protein localization to nucleus [GO:1900182]; regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043281]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P08138-1; Sequence=Displayed; Name=2; IsoId=P08138-2; Sequence=VSP_056850; Note=No experimental confirmation available.; 


uniprotID: Q6UXP3
geneSymbol: TMEM14EP
name: Transmembrane protein 14EP
length: 125
opentargets: integral component of membrane [GO:0016021]
snps: rs13077912
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MQMDPGPQVPLYWLGFVYAALAALGGISGYAKVGSVQSPSAGFFFSELAGLDASQPSRNPKEHLSSPVYIWDLARYYANKILTLWNIYACGFSCRCLLIVSKLGSMYGEQILSVVAMSQLGLMKN


uniprotID: Q9NV64
geneSymbol: TMEM39A
name: Transmembrane protein 39A
length: 488
go: ENSG00000176142;
opentargets: integral component of membrane [GO:0016021]
snps: rs1132200
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=Q9NV64-1; Sequence=Displayed; Name=2; IsoId=Q9NV64-2; Sequence=VSP_023416, VSP_023417; 


uniprotID: Q6ZUK4
geneSymbol: TMEM26
name: Transmembrane protein 26
length: 368
go: ENSG00000196932;
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=Q6ZUK4-1; Sequence=Displayed; Name=2; IsoId=Q6ZUK4-2; Sequence=VSP_019806, VSP_019807; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: O15417
geneSymbol: TNRC18
length: 2968
go: ENSG00000182095;
snps: rs12671708
name:
Trinucleotide repeat-containing gene 18 protein (Long CAG trinucleotide repeat-containing gene 79 protein)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15417-1; Sequence=Displayed; Name=2; IsoId=O15417-2; Sequence=VSP_033126, VSP_033127; Note=No experimental confirmation available. Dubious isoform produced through aberrant splice sites.; Name=3; IsoId=O15417-3; Sequence=VSP_033124, VSP_033128, VSP_033129; Note=Incomplete sequence. No experimental confirmation available. Non-canonical intron-exon splice junction.; 


uniprotID: Q9H2S6
geneSymbol: TNMD
length: 317
go: ENSG00000000005;
name:
Tenomodulin (TeM) (hTeM) (Chondromodulin-1-like protein) (ChM1L) (hChM1L) (Chondromodulin-I-like protein) (Myodulin) (Tendin)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; nuclear envelope [GO:0005635]; cellular response to BMP stimulus [GO:0071773]; endothelial cell morphogenesis [GO:0001886]; negative regulation of angiogenesis [GO:0016525]; negative regulation of endothelial cell proliferation [GO:0001937]; tendon cell differentiation [GO:0035990]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=64kDa, I; IsoId=Q9H2S6-1; Sequence=Displayed; Name=2; Synonyms=33 kDa, II; IsoId=Q9H2S6-2; Sequence=VSP_054950, VSP_054951; Name=3; Synonyms=45kDa, III; IsoId=Q9H2S6-3; Sequence=VSP_054949; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Nucleus envelope.; SUBCELLULAR LOCATION: Isoform 2: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Nucleus envelope.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm.


uniprotID: Q13445
geneSymbol: TMED1
length: 227
go: ENSG00000099203;
name:
Transmembrane emp24 domain-containing protein 1 (Interleukin-1 receptor-like 1 ligand) (Putative T1/ST2 receptor-binding protein) (p24 family protein gamma-1) (Tp24) (p24gamma1)

sequence:

opentargets:
COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; cell-cell signaling [GO:0007267]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; intracellular protein transport [GO:0006886]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:8621446}; Single-pass type I membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:10852829, ECO:0000269|PubMed:12237308}; Single-pass type I membrane protein {ECO:0000255}. Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:10852829, ECO:0000269|PubMed:12237308}; Single-pass type I membrane protein {ECO:0000255}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:12237308}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: Q12888
geneSymbol: TP53BP1
reactome: R-HSA-3232118;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-69473;
name: TP53-binding protein 1 (53BP1) (p53-binding protein 1) (p53BP1)
length: 1972
go: ENSG00000067369;
pdb:
1GZH;1KZY;1XNI;2G3R;2IG0;2LVM;2MWO;2MWP;3LGF;3LGL;3LH0;4CRI;4RG2;4X34;5ECG;5J26;5KGF;5Z78;5ZCJ;6CO1;6CO2;

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; DNA repair complex [GO:1990391]; nuclear body [GO:0016604]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; replication fork [GO:0005657]; site of double-strand break [GO:0035861]; damaged DNA binding [GO:0003684]; histone binding [GO:0042393]; methylated histone binding [GO:0035064]; p53 binding [GO:0002039]; RNA polymerase II activating transcription factor binding [GO:0001102]; telomeric DNA binding [GO:0042162]; transcription coregulator activity [GO:0003712]; ubiquitin modification-dependent histone binding [GO:0061649]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to X-ray [GO:0071481]; DNA damage checkpoint [GO:0000077]; double-strand break repair via nonhomologous end joining [GO:0006303]; negative regulation of double-strand break repair via homologous recombination [GO:2000042]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of isotype switching [GO:0045830]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein homooligomerization [GO:0051260]

snps:
rs560191 rs689647 rs45443496 rs34823068 rs34185035 rs45470395 rs45482998 rs2602141 rs34740611 rs45500399 rs3803339 rs2230449 rs11554564 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q12888-1; Sequence=Displayed; Name=2; IsoId=Q12888-2; Sequence=VSP_018390; Note=No experimental confirmation available.; Name=3; IsoId=Q12888-3; Sequence=VSP_018390, VSP_055062; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11331310, ECO:0000269|PubMed:15525939, ECO:0000269|PubMed:16294045, ECO:0000269|PubMed:16294047, ECO:0000269|PubMed:17190600, ECO:0000269|PubMed:19176521, ECO:0000269|PubMed:21144835, ECO:0000269|PubMed:28241136, ECO:0000269|PubMed:9748285}. Chromosome {ECO:0000269|PubMed:12824158, ECO:0000269|PubMed:15525939, ECO:0000269|PubMed:17190600, ECO:0000269|PubMed:23333306, ECO:0000269|PubMed:23760478, ECO:0000269|PubMed:24703952, ECO:0000269|PubMed:28241136}. Chromosome, centromere, kinetochore {ECO:0000250|UniProtKB:P70399}. Note=Localizes to the nucleus in absence of DNA damage (PubMed:28241136). Following DNA damage, recruited to sites of DNA damage, such as double stand breaks (DSBs): recognizes and binds histone H2A monoubiquitinated at 'Lys-15' (H2AK15Ub) and histone H4 dimethylated at 'Lys-20' (H4K20me2), two histone marks that are present at DSBs sites (PubMed:23333306, PubMed:23760478, PubMed:24703952, PubMed:28241136, PubMed:17190600). Associated with kinetochores during mitosis (By similarity). {ECO:0000250|UniProtKB:P70399, ECO:0000269|PubMed:17190600, ECO:0000269|PubMed:23333306, ECO:0000269|PubMed:23760478, ECO:0000269|PubMed:28241136}.


uniprotID: Q07352
geneSymbol: ZFP36L1
reactome: R-HSA-450385;
pdb: 1W0V;1W0W;
length: 338
go: ENSG00000185650;
name:
mRNA decay activator protein ZFP36L1 (Butyrate response factor 1) (EGF-response factor 1) (ERF-1) (TPA-induced sequence 11b) (Zinc finger protein 36, C3H1 type-like 1) (ZFP36-like 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; P-body [GO:0000932]; ribonucleoprotein complex [GO:1990904]; 14-3-3 protein binding [GO:0071889]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; mRNA 3'-UTR AU-rich region binding [GO:0035925]; mRNA 3'-UTR binding [GO:0003730]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; 3'-UTR-mediated mRNA destabilization [GO:0061158]; apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; cellular response to cAMP [GO:0071320]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to glucocorticoid stimulus [GO:0071385]; cellular response to hypoxia [GO:0071456]; cellular response to insulin stimulus [GO:0032869]; cellular response to peptide hormone stimulus [GO:0071375]; cellular response to raffinose [GO:0097403]; cellular response to salt stress [GO:0071472]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cellular response to tumor necrosis factor [GO:0071356]; chorio-allantoic fusion [GO:0060710]; ERK1 and ERK2 cascade [GO:0070371]; heart development [GO:0007507]; MAPK cascade [GO:0000165]; mesendoderm development [GO:0048382]; mRNA processing [GO:0006397]; mRNA transport [GO:0051028]; multicellular organism growth [GO:0035264]; negative regulation of erythrocyte differentiation [GO:0045647]; negative regulation of mitotic cell cycle phase transition [GO:1901991]; neural tube development [GO:0021915]; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:0000288]; nuclear-transcribed mRNA catabolic process, deadenylation-independent decay [GO:0031086]; p38MAPK cascade [GO:0038066]; phosphatidylinositol 3-kinase signaling [GO:0014065]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of intracellular mRNA localization [GO:1904582]; positive regulation of monocyte differentiation [GO:0045657]; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:1900153]; proepicardium development [GO:0003342]; protein kinase B signaling [GO:0043491]; regulation of B cell differentiation [GO:0045577]; regulation of gene expression [GO:0010468]; regulation of keratinocyte apoptotic process [GO:1902172]; regulation of keratinocyte differentiation [GO:0045616]; regulation of keratinocyte proliferation [GO:0010837]; regulation of mRNA 3'-end processing [GO:0031440]; regulation of mRNA stability [GO:0043488]; regulation of myoblast differentiation [GO:0045661]; regulation of stem cell proliferation [GO:0072091]; response to wounding [GO:0009611]; spongiotrophoblast layer development [GO:0060712]; T cell differentiation in thymus [GO:0033077]; vasculogenesis [GO:0001570]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12198173}. Cytoplasm {ECO:0000269|PubMed:12198173}. Cytoplasmic granule {ECO:0000269|PubMed:15967811}. Cytoplasm, P-body {ECO:0000269|PubMed:15967811, ECO:0000269|PubMed:17369404}. Note=Shuttles between the nucleus and the cytoplasm in a XPO1/CRM1-dependent manner (By similarity). Component of cytoplasmic stress granules (PubMed:15967811). Localizes in processing bodies (PBs) (PubMed:17369404). {ECO:0000250|UniProtKB:P23950, ECO:0000269|PubMed:15967811, ECO:0000269|PubMed:17369404}.


uniprotID: Q9H3S3
geneSymbol: TMPRSS5
name: Transmembrane protease serine 5 (EC 3.4.21.-) (Spinesin)
length: 457
go: ENSG00000166682;
snps: rs11601425 rs7939917 rs1263487635 rs7110736
sequence:

opentargets:
integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; peptidase activity [GO:0008233]; scavenger receptor activity [GO:0005044]; serine-type endopeptidase activity [GO:0004252]; proteolysis [GO:0006508]

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


uniprotID: Q04727
geneSymbol: TLE4
reactome: R-HSA-201722;R-HSA-2122947;R-HSA-3769402;R-HSA-4641265;
name: Transducin-like enhancer protein 4 (Grg-4) (Groucho-related protein 4)
length: 773
go: ENSG00000106829;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
beta-catenin-TCF complex [GO:1990907]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; repressing transcription factor binding [GO:0070491]; transcription corepressor activity [GO:0003714]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; beta-catenin-TCF complex assembly [GO:1904837]; cellular response to leukemia inhibitory factor [GO:1990830]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of transcription by RNA polymerase II [GO:0000122]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q04727-1; Sequence=Displayed; Name=2; IsoId=Q04727-2; Sequence=VSP_030497; Note=No experimental confirmation available.; Name=3; IsoId=Q04727-3; Sequence=VSP_030498; Note=No experimental confirmation available.; Name=4; IsoId=Q04727-4; Sequence=VSP_055169; 


uniprotID: Q9H2Q1
geneSymbol: TMEM133
name: Transmembrane protein 133
length: 129
go: ENSG00000165895;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MTSHHCVGPGNHISWSGHEKEHRLDYCPEVTFPLTKGFPLGYTLLFNFASYPFLLPSKIKTLLRNKDSFLNILCPACLLLIRRCNIEYSSTGLNFLNTFTVSLIVTVIPLLQNVPVPLGNNVGKMQVYE


uniprotID: A6NFC5
geneSymbol: TMEM235
name: Transmembrane protein 235
length: 223
go: ENSG00000204278;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A6NFC5-1; Sequence=Displayed; Name=2; IsoId=A6NFC5-2; Sequence=VSP_040887; Name=3; IsoId=A6NFC5-3; Sequence=VSP_040888; 

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


uniprotID: Q8N511
geneSymbol: TMEM199
name: Transmembrane protein 199
length: 208
go: ENSG00000244045;
snps: rs369488804 rs869025586 rs782531869 rs12572 rs36106147
sequence:

opentargets:
COPI-coated vesicle membrane [GO:0030663]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; integral component of membrane [GO:0016021]; lysosome [GO:0005764]; vacuolar proton-transporting V-type ATPase complex [GO:0016471]; cellular iron ion homeostasis [GO:0006879]; cellular response to increased oxygen levels [GO:0036295]; lysosomal lumen acidification [GO:0007042]; lysosomal protein catabolic process [GO:1905146]; vacuolar proton-transporting V-type ATPase complex assembly [GO:0070072]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000269|PubMed:26833330}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:26833330}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:28296633}; Multi-pass membrane protein {ECO:0000255}. Note=Partial colocalization with GOLGB1. {ECO:0000269|PubMed:26833330}.


uniprotID: Q8WWA1
geneSymbol: TMEM40
name: Transmembrane protein 40
length: 233
go: ENSG00000088726;
opentargets: integral component of membrane [GO:0016021]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WWA1-1; Sequence=Displayed; Name=2; IsoId=Q8WWA1-2; Sequence=VSP_023643; Name=3; IsoId=Q8WWA1-3; Sequence=VSP_055682; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|Ref.6}; Multi-pass membrane protein {ECO:0000269|Ref.6}.


uniprotID: Q96DC7
geneSymbol: TMCO6
name: Transmembrane and coiled-coil domain-containing protein 6
length: 493
go: ENSG00000113119;
snps: rs17208187
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; nuclear import signal receptor activity [GO:0061608]; protein import into nucleus [GO:0006606]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DC7-1; Sequence=Displayed; Name=2; IsoId=Q96DC7-2; Sequence=VSP_028249; Note=No experimental confirmation available.; 


uniprotID: Q9NP84
geneSymbol: TNFRSF12A
reactome: R-HSA-5668541;R-HSA-5676594;
pdb: 2EQP;2KMZ;2RPJ;
length: 129
go: ENSG00000006327;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Tumor necrosis factor receptor superfamily member 12A (Fibroblast growth factor-inducible immediate-early response protein 14) (FGF-inducible 14) (Tweak-receptor) (TweakR) (CD antigen CD266)

sequence:
MARGSLRRLLRLLVLGLWLALLRSVAGEQAPGTAPCSRGSSWSADLDKCMDCASCRARPHSDFCLGCAAAPPAPFRLLWPILGGALSLTFVLGLLSGFLVWRRCRRREKFTTPIEETGGEGCPAVALIQ

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; angiogenesis [GO:0001525]; extrinsic apoptotic signaling pathway [GO:0097191]; positive regulation of apoptotic process [GO:0043065]; positive regulation of axon extension [GO:0045773]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; regulation of angiogenesis [GO:0045765]; regulation of wound healing [GO:0061041]; substrate-dependent cell migration, cell attachment to substrate [GO:0006931]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NP84-1; Sequence=Displayed; Name=2; IsoId=Q9NP84-2; Sequence=VSP_006519; 


uniprotID: Q04724
geneSymbol: TLE1
reactome: R-HSA-201722;R-HSA-2122947;R-HSA-3769402;R-HSA-4641265;
pdb: 1GXR;2CE8;2CE9;4OM2;4OM3;5MWJ;
length: 770
go: ENSG00000196781;
name:
Transducin-like enhancer protein 1 (E(Sp1) homolog) (Enhancer of split groucho-like protein 1) (ESG1)

sequence:

opentargets:
beta-catenin-TCF complex [GO:1990907]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; identical protein binding [GO:0042802]; repressing transcription factor binding [GO:0070491]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; animal organ morphogenesis [GO:0009887]; beta-catenin-TCF complex assembly [GO:1904837]; multicellular organism development [GO:0007275]; negative regulation of anoikis [GO:2000811]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of Wnt signaling pathway [GO:0030178]; positive regulation of gene expression [GO:0010628]; signal transduction [GO:0007165]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12397081}. Note=Nuclear and chromatin-associated, depending on isoforms and phosphorylation status. Hyperphosphorylation decreases the affinity for nuclear components.


