# annotation

uniprotID: Q96IQ7
geneSymbol: VSIG2
length: 327
go: ENSG00000019102;
opentargets: integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
V-set and immunoglobulin domain-containing protein 2 (Cortical thymocyte-like protein) (CT-like protein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IQ7-1; Sequence=Displayed; Name=2; IsoId=Q96IQ7-2; Sequence=VSP_014119; Note=No experimental confirmation available.; 


uniprotID: Q15906
geneSymbol: VPS72
reactome: R-HSA-3214847;
pdb: 5FUG;
name: Vacuolar protein sorting-associated protein 72 homolog (Protein YL-1) (Transcription factor-like 1)
length: 364
go: ENSG00000163159;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:26974126}.
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; histone binding [GO:0042393]; histone exchange [GO:0043486]; negative regulation of transcription by RNA polymerase II [GO:0000122]; somatic stem cell population maintenance [GO:0035019]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15906-1; Sequence=Displayed; Name=2; IsoId=Q15906-2; Sequence=VSP_047566; Note=No experimental confirmation available.; 


uniprotID: P63125
geneSymbol: ERVK-25
length: 156
opentargets: aspartic-type endopeptidase activity [GO:0004190]; nucleic acid binding [GO:0003676]
name:
Endogenous retrovirus group K member 25 Pro protein (HERV-K_11q22.1 provirus ancestral Pro protein) (EC 3.4.23.50) (Protease) (Proteinase) (PR)

sequence:
WASQVSENRPVCKAIIQGKQFEGLVDTGADVSIIALNQWPKNWPKQKAVTGLVGVGTASEVYQSTEILHCLGPDNQESTVQPMITSIPLNLWGRDLLQQWGAEITMPAPLYSPTSQKIMTKMGYIPGKGLGKNEDGIKIPVEAKINQKREGIGYPF

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=1;  Comment=This protein is synthesized as Gag-Pro and Gag-Pro-Pol polyprotein. These polyproteins are thought, by similarity with type-B retroviruses, to be generated by -1 frameshifts occurring at the Gag-Pro and Pro-Pol genes boundaries.; Name=1; IsoId=P63125-1; Sequence=Displayed; 


uniprotID: Q9UBQ0
geneSymbol: VPS29
reactome: R-HSA-3238698;
pdb: 1W24;2R17;5GTU;5OSH;5OSI;5WYH;
length: 182
go: ENSG00000111237;
name:
Vacuolar protein sorting-associated protein 29 (hVPS29) (PEP11 homolog) (Vesicle protein sorting 29)

sequence:
MLVLVLGDLHIPHRCNSLPAKFKKLLVPGKIQHILCTGNLCTKESYDYLKTLAGDVHIVRGDFDENLNYPEQKVVTVGQFKIGLIHGHQVIPWGDMASLALLQRQFDVDILISGHTHKFEAFEHENKFYINPGSATGAYNALETNIIPSFVLMDIQASTVVTYVYQLIGDDVKVERIEYKKP

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; endosome [GO:0005768]; endosome membrane [GO:0010008]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; retromer complex [GO:0030904]; retromer, cargo-selective complex [GO:0030906]; metal ion binding [GO:0046872]; intracellular protein transport [GO:0006886]; retrograde transport, endosome to Golgi [GO:0042147]; retrograde transport, endosome to plasma membrane [GO:1990126]; viral process [GO:0016032]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBQ0-1; Sequence=Displayed; Name=2; IsoId=Q9UBQ0-2; Sequence=VSP_004073; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Endosome membrane {ECO:0000250|UniProtKB:Q9QZ88}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9QZ88}. Early endosome {ECO:0000305}. Late endosome {ECO:0000305}.


uniprotID: Q7Z5K2
geneSymbol: WAPL
reactome: R-HSA-2467813;R-HSA-2468052;R-HSA-2470946;R-HSA-2500257;
pdb: 4K6J;5HDT;
name: Wings apart-like protein homolog (Friend of EBNA2 protein) (WAPL cohesin release factor)
length: 1190
go: ENSG00000062650;
snps: rs10887621
sequence:

opentargets:
chromatin [GO:0000785]; chromosome [GO:0005694]; chromosome, centromeric region [GO:0000775]; cohesin complex [GO:0008278]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; synaptonemal complex [GO:0000795]; cell division [GO:0051301]; meiotic chromosome segregation [GO:0045132]; mitotic cell cycle [GO:0000278]; negative regulation of chromatin binding [GO:0035562]; negative regulation of DNA replication [GO:0008156]; negative regulation of sister chromatid cohesion [GO:0045875]; positive regulation of fibroblast proliferation [GO:0048146]; protein localization to chromatin [GO:0071168]; regulation of chromosome condensation [GO:0060623]; regulation of cohesin loading [GO:0071922]; response to toxic substance [GO:0009636]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z5K2-1; Sequence=Displayed; Name=2; IsoId=Q7Z5K2-2; Sequence=VSP_019649, VSP_019651; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z5K2-3; Sequence=VSP_019650; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 2: Nucleus.; SUBCELLULAR LOCATION: Nucleus. Chromosome. Cytoplasm. Note=Associates with chromatin through the cohesin complex during interphase. Released in the cytoplasm from nuclear envelope breakdown until anaphase, it reaccumulates in nucleus at telophase.


uniprotID: Q9Y6I7
geneSymbol: WSB1
reactome: R-HSA-8951664;R-HSA-983168;
name: WD repeat and SOCS box-containing protein 1 (WSB-1) (SOCS box-containing WD protein SWiP-1)
length: 421
go: ENSG00000109046;
snps: rs6561
sequence:

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; ubiquitin-protein transferase activity [GO:0004842]; intracellular signal transduction [GO:0035556]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y6I7-1; Sequence=Displayed; Name=2; IsoId=Q9Y6I7-2; Sequence=VSP_006792; Name=3; IsoId=Q9Y6I7-3; Sequence=VSP_039111, VSP_039112; Name=4; IsoId=Q9Y6I7-4; Sequence=VSP_053402, VSP_053403; 


uniprotID: Q86VZ2
geneSymbol: WDR5B
name: WD repeat-containing protein 5B
length: 330
go: ENSG00000196981;
opentargets: intracellular [GO:0005622]
sequence:


uniprotID: Q8TAF3
geneSymbol: WDR48
reactome: R-HSA-110314;R-HSA-5689880;R-HSA-6783310;
pdb: 5CVL;5CVN;5CVO;5K1A;5K1B;5K1C;5L8E;5L8W;
name: WD repeat-containing protein 48 (USP1-associated factor 1) (WD repeat endosomal protein) (p80)
length: 677
go: ENSG00000114742;
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; lysosome [GO:0005764]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; ubiquitin binding [GO:0043130]; DNA damage response, detection of DNA damage [GO:0042769]; double-strand break repair via homologous recombination [GO:0000724]; embryonic organ development [GO:0048568]; homeostasis of number of cells [GO:0048872]; multicellular organism growth [GO:0035264]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of protein deubiquitination [GO:1903003]; protein deubiquitination [GO:0016579]; regulation of protein monoubiquitination [GO:1902525]; seminiferous tubule development [GO:0072520]; single fertilization [GO:0007338]; skeletal system morphogenesis [GO:0048705]; skin development [GO:0043588]; spermatogenesis [GO:0007283]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8TAF3-1; Sequence=Displayed; Name=2; IsoId=Q8TAF3-2; Sequence=VSP_016776, VSP_016777; Note=No experimental confirmation available.; Name=3; IsoId=Q8TAF3-3; Sequence=VSP_037625; Note=No experimental confirmation available.; Name=4; IsoId=Q8TAF3-4; Sequence=VSP_037623; Note=No experimental confirmation available.; Name=5; IsoId=Q8TAF3-5; Sequence=VSP_037624, VSP_037626; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18032488}. Cytoplasm {ECO:0000269|PubMed:12196293, ECO:0000269|PubMed:18032488}. Lysosome {ECO:0000269|PubMed:12196293}. Late endosome {ECO:0000269|PubMed:12196293}. Note=Mainly in cytoplasmic compartments (PubMed:12196293, PubMed:18032488). In case of infection by papillomavirus HPV11, translocates to the nucleus via its interaction with papillomavirus HPV11 (PubMed:18032488). {ECO:0000269|PubMed:12196293, ECO:0000269|PubMed:18032488}.


uniprotID: Q9H6R7
geneSymbol: WDCP
name: WD repeat and coiled-coil-containing protein
length: 721
go: ENSG00000163026;
opentargets: kinase binding [GO:0019900]; protein complex oligomerization [GO:0051259]
snps: rs3731620
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H6R7-1; Sequence=Displayed; Name=2; IsoId=Q9H6R7-2; Sequence=VSP_027713, VSP_027714; Note=No experimental confirmation available.; Name=3; IsoId=Q9H6R7-3; Sequence=VSP_027712, VSP_027715; Note=No experimental confirmation available.; 


uniprotID: Q14508
geneSymbol: WFDC2
length: 124
go: ENSG00000101443;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15781627, ECO:0000269|PubMed:23139753}.
name:
WAP four-disulfide core domain protein 2 (Epididymal secretory protein E4) (Major epididymis-specific protein E4) (Putative protease inhibitor WAP5)

sequence:
MPACRLGPLAAALLLSLLLFGFTLVSGTGAEKTGVCPELQADQNCTQECVSDSECADNLKCCSAGCATFCSLPNDKEGSCPQVNINFPQLGLCRDQCQVDSQCPGQMKCCRNGCGKVSCVTPNF

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; aspartic-type endopeptidase inhibitor activity [GO:0019828]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase inhibitor activity [GO:0004867]; proteolysis [GO:0006508]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q14508-1; Sequence=Displayed; Name=2; Synonyms=HE4-V3; IsoId=Q14508-2; Sequence=VSP_007666, VSP_007667; Name=3; Synonyms=HE4-V2; IsoId=Q14508-3; Sequence=VSP_007668; Name=4; Synonyms=HE4-V1; IsoId=Q14508-4; Sequence=VSP_007669, VSP_007671; Name=5; Synonyms=HE4-V4; IsoId=Q14508-5; Sequence=VSP_007670, VSP_007672; 


uniprotID: Q96EX3
geneSymbol: WDR34
reactome: R-HSA-5620924;
name: WD repeat-containing protein 34
length: 536
go: ENSG00000119333;
snps: rs201715229 rs148543026 rs587777091 rs587777092 rs587777096 rs587777098 rs587777094 rs587777093
sequence:

opentargets:
axoneme [GO:0005930]; centriole [GO:0005814]; ciliary basal body [GO:0036064]; ciliary plasm [GO:0097014]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasmic dynein complex [GO:0005868]; cytosol [GO:0005829]; dynein complex [GO:0030286]; dynein heavy chain binding [GO:0045504]; dynein light chain binding [GO:0045503]; cilium assembly [GO:0060271]; intraciliary transport involved in cilium assembly [GO:0035735]; microtubule-based movement [GO:0007018]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19521662}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:19521662}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:19521662}. Note=Concentrates around the centrioles and basal bodies also showing axonemal staining. {ECO:0000250}.


uniprotID: Q8WWY7
geneSymbol: WFDC12
length: 111
go: ENSG00000168703;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
WAP four-disulfide core domain protein 12 (Putative protease inhibitor WAP12) (Whey acidic protein 2)

sequence:
MGSSSFLVLMVSLVLVTLVAVEGVKEGIEKAGVCPADNVRCFKSDPPQCHTDQDCLGERKCCYLHCGFKCVIPVKELEEGGNKDEDVSRPYPEPGWEAKCPGSSSTRCPQK

opentargets:
extracellular region [GO:0005576]; serine-type endopeptidase inhibitor activity [GO:0004867]; defense response to bacterium [GO:0042742]


uniprotID: O43516
geneSymbol: WIPF1
reactome: R-HSA-2029482;R-HSA-5663213;
pdb: 2A41;
length: 503
go: ENSG00000115935;
snps: rs4972450
name:
WAS/WASL-interacting protein family member 1 (Protein PRPL-2) (Wiskott-Aldrich syndrome protein-interacting protein) (WASP-interacting protein)

sequence:

opentargets:
actin cortical patch [GO:0030479]; actin cytoskeleton [GO:0015629]; actin filament [GO:0005884]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; ruffle [GO:0001726]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; profilin binding [GO:0005522]; SH3 domain binding [GO:0017124]; actin cortical patch assembly [GO:0000147]; actin cortical patch localization [GO:0051666]; actin filament-based movement [GO:0030048]; actin polymerization or depolymerization [GO:0008154]; endocytosis [GO:0006897]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; positive regulation of actin nucleation [GO:0051127]; protein-containing complex assembly [GO:0065003]; response to other organism [GO:0051707]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O43516-1; Sequence=Displayed; Name=2; IsoId=O43516-2; Sequence=VSP_012965; Name=3; IsoId=O43516-3; Sequence=VSP_012966; Note=No experimental confirmation available.; Name=4; IsoId=O43516-4; Sequence=VSP_012964; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, ruffle {ECO:0000269|PubMed:19910490}. Note=Vesicle surfaces and along actin tails. Colocalizes with actin stress fibers. When coexpressed with WASL, no longer associated with actin filaments but accumulated in perinuclear and cortical areas like WASL (By similarity). {ECO:0000250}.


uniprotID: Q9BTA9
geneSymbol: WAC
reactome: R-HSA-8866654;
name: WW domain-containing adapter protein with coiled-coil
length: 647
go: ENSG00000095787;
snps: rs11595926 rs2232791 rs7127
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; chromatin binding [GO:0003682]; RNA polymerase II complex binding [GO:0000993]; cellular response to DNA damage stimulus [GO:0006974]; G1 DNA damage checkpoint [GO:0044783]; histone H2B conserved C-terminal lysine ubiquitination [GO:0071894]; histone monoubiquitination [GO:0010390]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; positive regulation of macroautophagy [GO:0016239]; positive regulation of transcription, DNA-templated [GO:0045893]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BTA9-1; Sequence=Displayed; Name=2; IsoId=Q9BTA9-2; Sequence=VSP_021230; Name=3; IsoId=Q9BTA9-3; Sequence=VSP_021230, VSP_021233, VSP_021236; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q9BTA9-5; Sequence=VSP_021231; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000250|UniProtKB:Q924H7}. Nucleus {ECO:0000269|PubMed:21329877}. Note=In distinct nuclear speckles. Colocalizes with pre-mRNA processing complexes. {ECO:0000250|UniProtKB:Q924H7}.


uniprotID: O43895
geneSymbol: XPNPEP2
reactome: R-HSA-163125;
length: 674
go: ENSG00000122121;
snps: rs138365897 rs61733030 rs41311662
name:
Xaa-Pro aminopeptidase 2 (EC 3.4.11.9) (Aminoacylproline aminopeptidase) (Membrane-bound aminopeptidase P) (Membrane-bound APP) (Membrane-bound AmP) (mAmP) (X-Pro aminopeptidase 2)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane [GO:0016020]; plasma membrane [GO:0005886]; aminopeptidase activity [GO:0004177]; metal ion binding [GO:0046872]; metalloaminopeptidase activity [GO:0070006]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q95333}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q95333}.


uniprotID: Q5SRD0
geneSymbol: WASHC2D
name: WASH complex subunit 2D
length: 308
sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; WASH complex [GO:0071203]; retrograde transport, endosome to Golgi [GO:0042147]


uniprotID: A2RRH5
geneSymbol: WDR27
name: WD repeat-containing protein 27
length: 827
go: ENSG00000184465;
opentargets: nucleoplasm [GO:0005654]
snps: rs4236176 rs35895089 rs3800544 rs34313252 rs9396946
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A2RRH5-1; Sequence=Displayed; Name=2; IsoId=A2RRH5-2; Sequence=VSP_028510; Name=3; IsoId=A2RRH5-3; Sequence=VSP_028511, VSP_028512; Note=No experimental confirmation available.; Name=4; IsoId=A2RRH5-4; Sequence=VSP_040796, VSP_040797; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q6AWC2
geneSymbol: WWC2
name: Protein WWC2 (BH-3-only member B) (WW domain-containing protein 2)
length: 1192
go: ENSG00000151718;
snps: rs11941467 rs11734376 rs3814422 rs45470696 rs4862155
sequence:

opentargets:
cytosol [GO:0005829]; kinase binding [GO:0019900]; protein-containing complex scaffold activity [GO:0032947]; negative regulation of hippo signaling [GO:0035331]; negative regulation of organ growth [GO:0046621]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q6AWC2-1; Sequence=Displayed; Name=2; IsoId=Q6AWC2-2; Sequence=VSP_029215; Note=No experimental confirmation available.; Name=3; IsoId=Q6AWC2-3; Sequence=VSP_029214; Note=No experimental confirmation available.; Name=4; IsoId=Q6AWC2-4; Sequence=VSP_029217; Note=No experimental confirmation available.; Name=5; IsoId=Q6AWC2-5; Sequence=VSP_029216, VSP_029218; Note=No experimental confirmation available.; Name=6; IsoId=Q6AWC2-6; Sequence=VSP_029219; Note=No experimental confirmation available.; Name=7; IsoId=Q6AWC2-7; Sequence=VSP_029213; Note=No experimental confirmation available.; 


uniprotID: Q9ULE0
geneSymbol: WWC3
name: Protein WWC3
length: 1092
go: ENSG00000047644;
snps: rs5934750 rs36076296 rs55787431
sequence:

opentargets:
cytosol [GO:0005829]; kinase binding [GO:0019900]; protein-containing complex scaffold activity [GO:0032947]; negative regulation of hippo signaling [GO:0035331]; negative regulation of organ growth [GO:0046621]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULE0-1; Sequence=Displayed; Name=2; IsoId=Q9ULE0-2; Sequence=VSP_029220, VSP_029221; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P51811
geneSymbol: XK
reactome: R-HSA-375276;
name: Membrane transport protein XK (Kell complex 37 kDa component) (Kx antigen) (XK-related protein 1)
length: 444
go: ENSG00000047597;
snps: rs28933690
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; transporter activity [GO:0005215]; amino acid transport [GO:0006865]; cellular calcium ion homeostasis [GO:0006874]; cellular magnesium ion homeostasis [GO:0010961]; myelination [GO:0042552]; regulation of axon diameter [GO:0031133]; regulation of cell size [GO:0008361]; skeletal muscle fiber development [GO:0048741]


uniprotID: O14609
geneSymbol: XKRY
name: Testis-specific XK-related protein, Y-linked
length: 159
opentargets: integral component of membrane [GO:0016021]; single fertilization [GO:0007338]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MFIFNSIADDIFPLISCVGAIHCNILAIRTGNDFAAIKLQVIKLIYLMIWHSLVIISPVVTLAFFPASLKQGSLHFLLIIYFVLLLTPWLEFSKSGTHLPSNTKIIPAWWVSMDAYLNHASICCHQFSCLSAVKLQLSNEELIRDTRWDIQSYTTDFSF


uniprotID: Q7Z5U6
geneSymbol: WDR53
name: WD repeat-containing protein 53
length: 358
go: ENSG00000185798;
snps: rs1048032
sequence:


uniprotID: Q9UNX4
geneSymbol: WDR3
reactome: R-HSA-6790901;R-HSA-6791226;
name: WD repeat-containing protein 3
length: 943
go: ENSG00000065183;
snps: rs3738420
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
sequence:

opentargets:
nuclear membrane [GO:0031965]; 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]; rRNA processing [GO:0006364]


uniprotID: Q92889
geneSymbol: ERCC4
reactome: R-HSA-5685938;R-HSA-5696395;R-HSA-5696400;R-HSA-6782135;R-HSA-6783310;
pdb: 1Z00;2A1J;2AQ0;2KN7;2MUT;
length: 916
go: ENSG00000175595;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
DNA repair endonuclease XPF (EC 3.1.-.-) (DNA excision repair protein ERCC-4) (DNA repair protein complementing XP-F cells) (Xeroderma pigmentosum group F-complementing protein)

sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; ERCC4-ERCC1 complex [GO:0070522]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleotide-excision repair complex [GO:0000109]; nucleotide-excision repair factor 1 complex [GO:0000110]; nucleus [GO:0005634]; transcription factor TFIID complex [GO:0005669]; damaged DNA binding [GO:0003684]; endodeoxyribonuclease activity [GO:0004520]; identical protein binding [GO:0042802]; protein C-terminus binding [GO:0008022]; protein N-terminus binding [GO:0047485]; single-stranded DNA binding [GO:0003697]; single-stranded DNA endodeoxyribonuclease activity [GO:0000014]; TFIID-class transcription factor complex binding [GO:0001094]; cellular response to UV [GO:0034644]; DNA repair [GO:0006281]; double-strand break repair via homologous recombination [GO:0000724]; double-strand break repair via nonhomologous end joining [GO:0006303]; global genome nucleotide-excision repair [GO:0070911]; interstrand cross-link repair [GO:0036297]; negative regulation of double-stranded telomeric DNA binding [GO:1905768]; negative regulation of protection from non-homologous end joining at telomere [GO:1905765]; negative regulation of telomerase activity [GO:0051974]; negative regulation of telomere maintenance [GO:0032205]; negative regulation of telomere maintenance via telomere lengthening [GO:1904357]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair involved in interstrand cross-link repair [GO:1901255]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 3'-to lesion [GO:0006295]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; regulation of autophagy [GO:0010506]; resolution of meiotic recombination intermediates [GO:0000712]; response to UV [GO:0009411]; telomere maintenance [GO:0000723]; telomeric DNA-containing double minutes formation [GO:0061819]; transcription-coupled nucleotide-excision repair [GO:0006283]; UV protection [GO:0009650]

snps:
rs34205098 rs145402255 rs121913050 rs2020961 rs764731249 rs397509402 rs397509403 rs143479220 rs1799802 rs1800067 rs912480692 rs769679311 rs1800068 rs147105770 rs2020955 rs149364215 rs1800069 rs12928650 rs121913049 rs4986933 rs2020957 rs1800124 rs2020956 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92889-1; Sequence=Displayed; Name=2; IsoId=Q92889-2; Sequence=VSP_056341, VSP_056342; Note=No experimental confirmation available.; 


uniprotID: Q96DN2
geneSymbol: VWCE
length: 955
go: ENSG00000167992;
snps: rs3750982
name:
von Willebrand factor C and EGF domain-containing protein (HBV X protein up-regulated gene 11 protein) (HBxAg up-regulated gene 11 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; cellular response to virus [GO:0098586]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DN2-1; Sequence=Displayed; Name=2; IsoId=Q96DN2-2; Sequence=VSP_031230, VSP_031231; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Note=According to PubMed:16496348 is localized in the cytoplasm. {ECO:0000269|PubMed:16496348}.


uniprotID: Q8IV35
geneSymbol: WDR49
name: WD repeat-containing protein 49
length: 697
go: ENSG00000174776;
snps: rs74903439 rs13060964
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IV35-1; Sequence=Displayed; Name=2; IsoId=Q8IV35-2; Sequence=VSP_020962; Note=No experimental confirmation available.; 


uniprotID: O75083
geneSymbol: WDR1
reactome: R-HSA-114608;
name: WD repeat-containing protein 1 (Actin-interacting protein 1) (AIP1) (NORI-1)
length: 606
go: ENSG00000071127;
snps: rs13441
sequence:

opentargets:
actomyosin, actin portion [GO:0042643]; cell junction [GO:0030054]; cell projection [GO:0042995]; cell-cell junction [GO:0005911]; cortical actin cytoskeleton [GO:0030864]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; podosome [GO:0002102]; actin filament binding [GO:0051015]; actin filament depolymerization [GO:0030042]; actin filament fragmentation [GO:0030043]; apical junction assembly [GO:0043297]; cortical cytoskeleton organization [GO:0030865]; establishment of planar polarity of follicular epithelium [GO:0042247]; locomotion [GO:0040011]; maintenance of epithelial cell apical/basal polarity [GO:0045199]; neutrophil mediated immunity [GO:0002446]; neutrophil migration [GO:1990266]; platelet degranulation [GO:0002576]; platelet formation [GO:0030220]; positive regulation of actin filament depolymerization [GO:0030836]; regulation of actin filament depolymerization [GO:0030834]; regulation of cell shape [GO:0008360]; regulation of oligodendrocyte differentiation [GO:0048713]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; sarcomere organization [GO:0045214]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75083-1; Sequence=Displayed; Name=2; IsoId=O75083-3; Sequence=VSP_012926; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q5RKI0}. Cell projection, podosome {ECO:0000269|PubMed:22721921}. Cell junction {ECO:0000269|PubMed:25792565}.


uniprotID: A8MWX3
geneSymbol: WASH4P
name: Putative WAS protein family homolog 4 (Protein FAM39CP)
length: 477
sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; recycling endosome [GO:0055037]; recycling endosome membrane [GO:0055038]; WASH complex [GO:0071203]; actin binding [GO:0003779]; alpha-tubulin binding [GO:0043014]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; endosomal transport [GO:0016197]; retrograde transport, endosome to Golgi [GO:0042147]

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000250|UniProtKB:A8K0Z3}. Recycling endosome membrane {ECO:0000250|UniProtKB:Q8VDD8}. Note=Localization to the endosome membrane is mediated via its interaction with WASHC2. {ECO:0000250|UniProtKB:A8K0Z3}.


uniprotID: Q9Y2W2
geneSymbol: WBP11
reactome: R-HSA-72163;
length: 641
go: ENSG00000084463;
name:
WW domain-binding protein 11 (WBP-11) (Npw38-binding protein) (NpwBP) (SH3 domain-binding protein SNP70) (Splicing factor that interacts with PQBP-1 and PP1)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; WW domain binding [GO:0050699]; mRNA cis splicing, via spliceosome [GO:0045292]; mRNA splicing, via spliceosome [GO:0000398]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Predominantly located in the nucleus with granular heterogeneous distribution. Excluded from nucleoli in interphase cells, distributed throughout cytoplasm in dividing cells. Colocalized with SC35 and U2B in the nucleus. In the cytoplasm, associates with the intermediate filament protein vimentin.


uniprotID: Q6PCB0
geneSymbol: VWA1
reactome: R-HSA-381426;R-HSA-8957275;
name: von Willebrand factor A domain-containing protein 1
length: 445
go: ENSG00000179403;
sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; interstitial matrix [GO:0005614]; extracellular matrix structural constituent [GO:0005201]; identical protein binding [GO:0042802]; behavioral response to pain [GO:0048266]; cellular protein metabolic process [GO:0044267]; extracellular matrix organization [GO:0030198]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PCB0-1; Sequence=Displayed; Name=2; IsoId=Q6PCB0-2; Sequence=VSP_028617; Name=3; IsoId=Q6PCB0-3; Sequence=VSP_046651, VSP_046652; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250|UniProtKB:Q8R2Z5}.


uniprotID: Q9P2L0
geneSymbol: WDR35
reactome: R-HSA-5610787;R-HSA-5620924;
name: WD repeat-containing protein 35 (Intraflagellar transport protein 121 homolog)
length: 1181
go: ENSG00000118965;
snps: rs1060742 rs431905505 rs200649783 rs267607174 rs267607175 rs2293669 rs2293669 rs1191778
sequence:

opentargets:
axoneme [GO:0005930]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary tip [GO:0097542]; cilium [GO:0005929]; intraciliary transport particle A [GO:0030991]; phosphatidylinositol binding [GO:0035091]; cellular response to glucose stimulus [GO:0071333]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular response to paclitaxel [GO:1905705]; cellular response to tumor necrosis factor [GO:0071356]; cilium assembly [GO:0060271]; intraciliary retrograde transport [GO:0035721]; intraciliary transport involved in cilium assembly [GO:0035735]; liver regeneration [GO:0097421]; negative regulation of blood vessel diameter [GO:0097756]; negative regulation of gene expression [GO:0010629]; negative regulation of nitric oxide biosynthetic process [GO:0045019]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; protein localization to cilium [GO:0061512]; response to lipopolysaccharide [GO:0032496]; response to toxic substance [GO:0009636]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2L0-1; Sequence=Displayed; Name=2; IsoId=Q9P2L0-2; Sequence=VSP_009732; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}.


uniprotID: Q7Z7D3
geneSymbol: VTCN1
pdb: 4GOS;
length: 282
go: ENSG00000134258;
name:
V-set domain-containing T-cell activation inhibitor 1 (B7 homolog 4) (B7-H4) (B7h.5) (Immune costimulatory protein B7-H4) (Protein B7S1) (T-cell costimulatory molecule B7x)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; signaling receptor binding [GO:0005102]; adaptive immune response [GO:0002250]; interferon-gamma secretion [GO:0072643]; interleukin-4 secretion [GO:0072602]; negative regulation of apoptotic process [GO:0043066]; negative regulation of T cell activation [GO:0050868]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of interleukin-2 secretion [GO:1900042]; positive regulation of T cell proliferation [GO:0042102]; regulation of immune response [GO:0050776]; response to protozoan [GO:0001562]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1 {ECO:0000269|PubMed:12818165, ECO:0000269|PubMed:12920180, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16710414, ECO:0000269|PubMed:16782226}; IsoId=Q7Z7D3-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:16782226}; IsoId=Q7Z7D3-2; Sequence=VSP_052841; Name=3 {ECO:0000269|Ref.4}; IsoId=Q7Z7D3-3; Sequence=VSP_052842, VSP_052843; Name=4; IsoId=Q7Z7D3-4; Sequence=VSP_045423; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000305}. Note=Expressed at the cell surface. A soluble form has also been detected. {ECO:0000255, ECO:0000269|PubMed:12818165, ECO:0000269|PubMed:15878339, ECO:0000269|PubMed:16782226}.


uniprotID: Q93097
geneSymbol: WNT2B
reactome: R-HSA-3238698;R-HSA-373080;
name: Protein Wnt-2b (Protein Wnt-13)
length: 391
go: ENSG00000134245;
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; frizzled binding [GO:0005109]; canonical Wnt signaling pathway [GO:0060070]; cell fate commitment [GO:0045165]; cellular response to starvation [GO:0009267]; chondrocyte differentiation [GO:0002062]; cornea development in camera-type eye [GO:0061303]; forebrain regionalization [GO:0021871]; hematopoietic stem cell proliferation [GO:0071425]; iris morphogenesis [GO:0061072]; lens development in camera-type eye [GO:0002088]; lung induction [GO:0060492]; male gonad development [GO:0008584]; mesenchymal-epithelial cell signaling [GO:0060638]; neuron differentiation [GO:0030182]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q93097-1; Sequence=Displayed; Name=1; IsoId=Q93097-2; Sequence=VSP_006794; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000305}. Secreted {ECO:0000269|PubMed:26902720}.


uniprotID: Q6ZW31
geneSymbol: SYDE1
reactome: R-HSA-194840;
length: 735
go: ENSG00000105137;
snps: rs772906202
name:
Rho GTPase-activating protein SYDE1 (Synapse defective protein 1 homolog 1) (Protein syd-1 homolog 1)

sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; activation of GTPase activity [GO:0090630]; positive regulation of trophoblast cell migration [GO:1901165]; regulation of cytoskeleton organization [GO:0051493]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZW31-1; Sequence=Displayed; Name=2; IsoId=Q6ZW31-2; Sequence=VSP_029717; 


uniprotID: Q5VT97
geneSymbol: SYDE2
reactome: R-HSA-194840;
length: 1194
go: ENSG00000097096;
snps: rs12090608 rs817443 rs709786
name:
Rho GTPase-activating protein SYDE2 (Synapse defective protein 1 homolog 2) (Protein syd-1 homolog 2)

sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; activation of GTPase activity [GO:0090630]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VT97-1; Sequence=Displayed; Name=2; IsoId=Q5VT97-2; Sequence=VSP_029718, VSP_029719; 


uniprotID: Q6PI48
geneSymbol: DARS2
reactome: R-HSA-379726;
pdb: 4AH6;
name: Aspartate--tRNA ligase, mitochondrial (EC 6.1.1.12) (Aspartyl-tRNA synthetase) (AspRS)
length: 645
go: ENSG00000117593;
drug: DB00128;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:15779907}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; aspartate-tRNA ligase activity [GO:0004815]; aspartate-tRNA(Asn) ligase activity [GO:0050560]; ATP binding [GO:0005524]; protein homodimerization activity [GO:0042803]; tRNA binding [GO:0000049]; mitochondrial asparaginyl-tRNA aminoacylation [GO:0070145]; tRNA aminoacylation [GO:0043039]; tRNA aminoacylation for protein translation [GO:0006418]

snps:
rs4427454 rs121918209 rs121918208 rs121918210 rs35515638 rs772489337 rs121918207 rs770525873 rs121918212 rs121918213 rs121918205 rs761675657 


uniprotID: Q2MKA7
geneSymbol: RSPO1
reactome: R-HSA-4641263;
pdb: 4BSO;4BSP;4BSR;4BSS;4BST;4BSU;4CDK;4KNG;4KT1;4LI2;4QXF;
name: R-spondin-1 (Roof plate-specific spondin-1) (hRspo1)
length: 263
go: ENSG00000169218;
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; frizzled binding [GO:0005109]; G protein-coupled receptor binding [GO:0001664]; heparin binding [GO:0008201]; signaling receptor binding [GO:0005102]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of Wnt signaling pathway [GO:0030177]; regulation of receptor internalization [GO:0002090]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2MKA7-1; Sequence=Displayed; Name=2; IsoId=Q2MKA7-2; Sequence=VSP_018320; Note=No experimental confirmation available.; Name=3; IsoId=Q2MKA7-3; Sequence=VSP_043265; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q9Z132}. Nucleus {ECO:0000250|UniProtKB:Q9Z132}. Note=Seems to mainly localize to nucleoli. {ECO:0000250|UniProtKB:Q9Z132}.


uniprotID: P82675
geneSymbol: MRPS5
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 430
go: ENSG00000144029;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S5, mitochondrial (MRP-S5) (S5mt) (Mitochondrial small ribosomal subunit protein uS5m)

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P82675-1; Sequence=Displayed; Name=2; IsoId=P82675-2; Sequence=VSP_005725, VSP_005726; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: O60783
geneSymbol: MRPS14
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 128
go: ENSG00000120333;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S14, mitochondrial (MRP-S14) (S14mt) (Mitochondrial small ribosomal subunit protein uS14m)

sequence:
MAAFMLGSLLRTFKQMVPSSASGQVRSHYVDWRMWRDVKRRKMAYEYADERLRINSLRKNTILPKILQDVADEEIAALPRDSCPVRIRNRCVMTSRPRGVKRRWRLSRIVFRHLADHGQLSGIQRATW

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial ribosome [GO:0005761]; mitochondrial small ribosomal subunit [GO:0005763]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]


uniprotID: Q9Y2R5
geneSymbol: MRPS17
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 130
go: ENSG00000239789;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S17, mitochondrial (MRP-S17) (S17mt) (Mitochondrial small ribosomal subunit protein uS17m)

sequence:
MSVVRSSVHARWIVGKVIGTKMQKTAKVRVTRLVLDPYLLKYFNKRKTYFAHDALQQCTVGDIVLLRALPVPRAKHVKHELAEIVFKVGKVIDPVTGKPCAGTTYLESPLSSETTQLSKNLEELNISSAQ

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial small ribosomal subunit [GO:0005763]; rRNA binding [GO:0019843]; structural constituent of ribosome [GO:0003735]; mitochondrial translation [GO:0032543]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]


uniprotID: P82663
geneSymbol: MRPS25
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 173
go: ENSG00000131368;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S25, mitochondrial (MRP-S25) (S25mt) (Mitochondrial small ribosomal subunit protein mS25)

sequence:
MPMKGRFPIRRTLQYLSQGNVVFKDSVKVMTVNYNTHGELGEGARKFVFFNIPQIQYKNPWVQIMMFKNMTPSPFLRFYLDSGEQVLVDVETKSNKEIMEHIRKILGKNEETLREEEEEKKQLSHPANFGPRKYCLRECICEVEGQVPCPSLVPLPKEMRGKYKAALKADAQD

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; ribosome [GO:0005840]; structural constituent of ribosome [GO:0003735]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P82663-1; Sequence=Displayed; Name=2; IsoId=P82663-2; Sequence=VSP_056423; Note=No experimental confirmation available.; Name=3; IsoId=P82663-3; Sequence=VSP_056422, VSP_056424; Note=No experimental confirmation available.; 


uniprotID: Q9Y3D9
geneSymbol: MRPS23
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 190
go: ENSG00000181610;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S23, mitochondrial (MRP-S23) (S23mt) (Mitochondrial small ribosomal subunit protein mS23)

sequence:
MAGSRLETVGSIFSRTRDLVRAGVLKEKPLWFDVYDAFPPLREPVFQRPRVRYGKAKAPIQDIWYHEDRIRAKFYSVYGSGQRAFDLFNPNFKSTCQRFVEKYTELQKLGETDEEKLFVETGKALLAEGVILRRVGEARTQHGGSHVSRKSEHLSVRPQTALEENETQKEVPQDQHLEAPADQSKGLLPP

opentargets:
intermediate filament cytoskeleton [GO:0045111]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nuclear membrane [GO:0031965]; ribosome [GO:0005840]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]


uniprotID: P82673
geneSymbol: MRPS35
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 323
go: ENSG00000061794;
snps: rs35475802
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S35, mitochondrial (MRP-S35) (S35mt) (28S ribosomal protein S28, mitochondrial) (MRP-S28) (S28mt) (Mitochondrial small ribosomal subunit protein mS35)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial small ribosomal subunit [GO:0005763]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; DNA damage response, detection of DNA damage [GO:0042769]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000305}; IsoId=P82673-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=P82673-2; Sequence=VSP_054096, VSP_054097; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P82909
geneSymbol: MRPS36
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
name: 28S ribosomal protein S36, mitochondrial (MRP-S36) (S36mt)
length: 103
go: ENSG00000134056;
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:
MMGSKMASASRVVQVVKPHTPLIRFPDRRDNPKPNVSEALRSAGLPSHSSVISQHSKGSKSPDLLMYQGPPDTAEIIKTLPQKYRRKLVSQEEMEFIQRGGPE

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial oxoglutarate dehydrogenase complex [GO:0009353]; mitochondrial small ribosomal subunit [GO:0005763]; mitochondrion [GO:0005739]; structural constituent of ribosome [GO:0003735]; 2-oxoglutarate metabolic process [GO:0006103]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; oxidation-reduction process [GO:0055114]; translation [GO:0006412]


uniprotID: Q6ICC9
geneSymbol: RTL6
length: 239
go: ENSG00000188636;
name:
Retrotransposon Gag-like protein 6 (Leucine zipper protein down-regulated in cancer cells-like) (Mammalian retrotransposon-derived protein 6) (Protein LDOC1L)

sequence:


uniprotID: Q9BWD3
geneSymbol: RTL8A
name: Retrotransposon Gag-like protein 8A (Mammalian retrotransposon derived protein 8A)
length: 113
go: ENSG00000203950;
snps: rs2498776
sequence:
MDGRVQLMKALLAGPLRPAARRWRNPIPFPETFDGDTDRLPEFIVQTSSYMFVDENTFSNDALKVTFLITRLTGPALQWVIPYIRKESPLLNDYRGFLAEMKRVFGWEEDEDF


uniprotID: Q92541
geneSymbol: RTF1
reactome: R-HSA-112382;R-HSA-674695;R-HSA-75955;R-HSA-8866654;
pdb: 2BZE;2DB9;3U1U;4L1P;4L1U;
name: RNA polymerase-associated protein RTF1 homolog
length: 710
go: ENSG00000137815;
location: SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000250}.
sequence:

opentargets:
Cdc73/Paf1 complex [GO:0016593]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; RNA polymerase II C-terminal domain phosphoserine binding [GO:1990269]; single-stranded DNA binding [GO:0003697]; blastocyst growth [GO:0001832]; endodermal cell fate commitment [GO:0001711]; histone H3-K4 trimethylation [GO:0080182]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; protein ubiquitination [GO:0016567]; stem cell population maintenance [GO:0019827]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; Wnt signaling pathway [GO:0016055]


uniprotID: Q9BY42
geneSymbol: RTFDC1
name: Protein RTF2 homolog (Replication termination factor 2 domain-containing protein 1)
length: 306
go: ENSG00000022277;
snps: rs6024909 rs1059768
sequence:

opentargets:
nucleus [GO:0005634]; replication fork [GO:0005657]; mitotic DNA replication termination [GO:1902979]; site-specific DNA replication termination at RTS1 barrier [GO:0071171]


uniprotID: Q9BZR6
geneSymbol: RTN4R
reactome: R-HSA-193634;
pdb: 1OZN;1P8T;
name: Reticulon-4 receptor (Nogo receptor) (NgR) (Nogo-66 receptor)
length: 473
go: ENSG00000040608;
sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; axonal growth cone [GO:0044295]; cell surface [GO:0009986]; dendritic shaft [GO:0043198]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; chondroitin sulfate binding [GO:0035374]; ganglioside GM1 binding [GO:1905573]; ganglioside GT1b binding [GO:1905576]; heparin binding [GO:0008201]; neuregulin receptor activity [GO:0038131]; signaling receptor activity [GO:0038023]; axonogenesis [GO:0007409]; cell surface receptor signaling pathway [GO:0007166]; corpus callosum development [GO:0022038]; negative regulation of axon extension [GO:0030517]; negative regulation of axon regeneration [GO:0048681]; negative regulation of axonogenesis [GO:0050771]; negative regulation of neuron projection development [GO:0010977]; neuronal signal transduction [GO:0023041]; positive regulation of GTPase activity [GO:0043547]; positive regulation of Rho protein signal transduction [GO:0035025]

snps:
rs145292678 rs145773589 rs74315508 rs760855779 rs74315509 rs754793885 rs576939822 rs3747073 rs752810777 rs112151786 rs757507039 rs149231717 rs779384862 rs748655075 rs200119628 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12426574, ECO:0000269|PubMed:12694398, ECO:0000269|PubMed:12839991, ECO:0000269|PubMed:16712417, ECO:0000269|PubMed:18411262}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:12694398}. Membrane raft {ECO:0000269|PubMed:12694398}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q99PI8}. Cell projection, axon {ECO:0000250|UniProtKB:Q99PI8}. Perikaryon {ECO:0000250|UniProtKB:Q99M75}. Note=Detected along dendrites and axons, close to synapses, but clearly excluded from synapses. {ECO:0000250|UniProtKB:Q99PI8}.


uniprotID: Q9BST9
geneSymbol: RTKN
reactome: R-HSA-5666185;
name: Rhotekin
length: 563
go: ENSG00000114993;
sequence:

opentargets:
actomyosin contractile ring [GO:0005826]; cytosol [GO:0005829]; GTP binding [GO:0005525]; GTP-Rho binding [GO:0017049]; GTPase inhibitor activity [GO:0005095]; actomyosin contractile ring assembly [GO:0000915]; apoptotic process [GO:0006915]; cortical cytoskeleton organization [GO:0030865]; mitotic cytokinesis [GO:0000281]; protein localization to mitotic actomyosin contractile ring [GO:1904498]; regulation of apoptotic process [GO:0042981]; Rho protein signal transduction [GO:0007266]; septin ring organization [GO:0031106]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:10873388}; IsoId=Q9BST9-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q9BST9-2; Sequence=VSP_052004; Note=No experimental confirmation available.; Name=3 {ECO:0000269|PubMed:10940294}; IsoId=Q9BST9-3; Sequence=VSP_052005; Note=Incomplete sequence. {ECO:0000269|PubMed:10940294}; 


uniprotID: Q5QGT7
geneSymbol: RTP2
reactome: R-HSA-381753;
name: Receptor-transporting protein 2 (3CxxC-type zinc finger protein 2)
length: 225
go: ENSG00000198471;
snps: rs11707167
sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; olfactory receptor binding [GO:0031849]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; protein insertion into membrane [GO:0051205]; protein targeting to membrane [GO:0006612]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Note=Effective cell surface expression depends upon interaction with olfactory receptors. {ECO:0000250}.


uniprotID: Q9BQQ7
geneSymbol: RTP3
reactome: R-HSA-381753;
name: Receptor-transporting protein 3 (3CxxC-type zinc finger protein 3) (Transmembrane protein 7)
length: 232
go: ENSG00000163825;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type III membrane protein {ECO:0000305}.
sequence:

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


uniprotID: Q9NQC3
geneSymbol: RTN4
reactome: R-HSA-193634;
pdb: 2G31;2JV5;
length: 1192
go: ENSG00000115310;
snps: rs11677099 rs6757519 rs6757705
name:
Reticulon-4 (Foocen) (Neurite outgrowth inhibitor) (Nogo protein) (Neuroendocrine-specific protein) (NSP) (Neuroendocrine-specific protein C homolog) (RTN-x) (Reticulon-5)

sequence:

opentargets:
cell projection [GO:0042995]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum tubular network [GO:0071782]; endoplasmic reticulum tubular network membrane [GO:0098826]; integral component of endoplasmic reticulum membrane [GO:0030176]; intracellular [GO:0005622]; neuronal cell body [GO:0043025]; nuclear envelope [GO:0005635]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; cadherin binding [GO:0045296]; RNA binding [GO:0003723]; ubiquitin protein ligase binding [GO:0031625]; apoptotic process [GO:0006915]; axonal fasciculation [GO:0007413]; blastocyst formation [GO:0001825]; cardiac epithelial to mesenchymal transition [GO:0060317]; cerebral cortex radial glia guided migration [GO:0021801]; endoplasmic reticulum tubular network formation [GO:0071787]; endoplasmic reticulum tubular network membrane organization [GO:1990809]; endoplasmic reticulum tubular network organization [GO:0071786]; negative regulation of axon extension [GO:0030517]; negative regulation of axonogenesis [GO:0050771]; negative regulation of cell growth [GO:0030308]; nuclear pore complex assembly [GO:0051292]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of ERBB3 signaling pathway [GO:1905580]; positive regulation of mammary gland epithelial cell proliferation [GO:0033601]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein localization to endoplasmic reticulum [GO:1905552]; protein stabilization [GO:0050821]; regulation of apoptotic process [GO:0042981]; regulation of branching morphogenesis of a nerve [GO:2000172]; regulation of cell migration [GO:0030334]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=RTN 4A, Nogo-A, RTN-xL; IsoId=Q9NQC3-1; Sequence=Displayed; Name=2; Synonyms=RTN 4B, ASY, Nogo-B, RTN-xS, Foocen-M; IsoId=Q9NQC3-2; Sequence=VSP_005655; Name=3; Synonyms=RTN 4C, Nogo-C, Foocen-S; IsoId=Q9NQC3-3; Sequence=VSP_005652, VSP_005653; Name=4; IsoId=Q9NQC3-4; Sequence=VSP_005654; Name=5; Synonyms=RTN4-B2; IsoId=Q9NQC3-5; Sequence=VSP_037113; Name=6; Synonyms=Rtn-T; IsoId=Q9NQC3-6; Sequence=VSP_037112; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:25612671, ECO:0000269|PubMed:26906412, ECO:0000269|PubMed:27619977}; Multi-pass membrane protein {ECO:0000255}. Note=Anchored to the membrane of the endoplasmic reticulum (ER) through 2 putative transmembrane domains. Localizes throughout the ER tubular network (PubMed:27619977). Co-localizes with TMEM33 at the ER sheets. {ECO:0000269|PubMed:25612671, ECO:0000269|PubMed:27619977}.


uniprotID: Q92752
geneSymbol: TNR
reactome: R-HSA-3000178;
name: Tenascin-R (TN-R) (Janusin) (Restrictin)
length: 1358
go: ENSG00000116147;
snps: rs859398 rs2239819 rs3752516 rs35736986 rs859427
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; glutamatergic synapse [GO:0098978]; membrane raft [GO:0045121]; perineuronal net [GO:0072534]; Schaffer collateral - CA1 synapse [GO:0098685]; associative learning [GO:0008306]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; extracellular matrix organization [GO:0030198]; locomotory exploration behavior [GO:0035641]; long-term synaptic potentiation [GO:0060291]; negative regulation of axon extension involved in regeneration [GO:0048692]; negative regulation of cell-cell adhesion [GO:0022408]; negative regulation of synaptic transmission [GO:0050805]; neuromuscular process controlling balance [GO:0050885]; neuron cell-cell adhesion [GO:0007158]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of transmission of nerve impulse [GO:0051971]; synapse organization [GO:0050808]; telencephalon cell migration [GO:0022029]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92752-1; Sequence=Displayed; Name=2; IsoId=Q92752-2; Sequence=VSP_012993; 


uniprotID: Q9HBL0
geneSymbol: TNS1
name: Tensin-1
length: 1735
go: ENSG00000079308;
snps: rs11680854 rs3815849 rs3796033 rs3796028 rs2571445 rs918949
sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; focal adhesion [GO:0005925]; actin binding [GO:0003779]; RNA binding [GO:0003723]; cell-substrate junction assembly [GO:0007044]; fibroblast migration [GO:0010761]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HBL0-1; Sequence=Displayed; Name=2; IsoId=Q9HBL0-2; Sequence=VSP_056335, VSP_056336, VSP_056337; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell surface {ECO:0000269|PubMed:21768292}. Cell junction, focal adhesion {ECO:0000269|PubMed:21768292}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21768292}. Note=Localized at cell periphery preferentially to fibrillar adhesions than focal adhesions. Translocates from the cell edge to cell center in an ITGB1BP1-dependent manner.


uniprotID: Q68CZ2
geneSymbol: TNS3
reactome: R-HSA-8875513;
name: Tensin-3 (Tensin-like SH2 domain-containing protein 1) (Tumor endothelial marker 6)
length: 1445
go: ENSG00000136205;
snps: rs2293362 rs7808646 rs3807590
sequence:

opentargets:
cytosol [GO:0005829]; focal adhesion [GO:0005925]; cell migration [GO:0016477]; lung alveolus development [GO:0048286]; positive regulation of cell proliferation [GO:0008284]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q68CZ2-1; Sequence=Displayed; Name=2; IsoId=Q68CZ2-2; Sequence=VSP_027123; Name=3; IsoId=Q68CZ2-3; Sequence=VSP_027126, VSP_027127; Name=4; IsoId=Q68CZ2-4; Sequence=VSP_027124, VSP_027125; 

location:
SUBCELLULAR LOCATION: Cell junction, focal adhesion {ECO:0000269|PubMed:15140944, ECO:0000269|PubMed:17643115}.


uniprotID: Q8IZW8
geneSymbol: TNS4
reactome: R-HSA-8875513;
name: Tensin-4 (C-terminal tensin-like protein)
length: 715
go: ENSG00000131746;
snps: rs3764424 rs33923045 rs2290207 rs148022611
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; actin binding [GO:0003779]; apoptotic process [GO:0006915]; protein localization [GO:0008104]

location:
SUBCELLULAR LOCATION: Cell junction, focal adhesion {ECO:0000269|PubMed:12154022}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12154022}.


uniprotID: Q16473
geneSymbol: TNXA
name: Putative tenascin-XA (TN-XA)
length: 311
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; collagen fibril organization [GO:0030199]


uniprotID: Q99973
geneSymbol: TEP1
length: 2627
go: ENSG00000129566;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Chromosome, telomere.
name:
Telomerase protein component 1 (Telomerase-associated protein 1) (Telomerase protein 1) (p240) (p80 telomerase homolog)

sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; cytoplasm [GO:0005737]; nuclear matrix [GO:0016363]; ribonucleoprotein complex [GO:1990904]; telomerase holoenzyme complex [GO:0005697]; ATP binding [GO:0005524]; enzyme binding [GO:0019899]; p53 binding [GO:0002039]; RNA binding [GO:0003723]; telomerase activity [GO:0003720]; telomerase RNA binding [GO:0070034]; telomere maintenance via recombination [GO:0000722]

snps:
rs1760897 rs10083536 rs1760898 rs2228035 rs17111188 rs4982051 rs76466486 rs34179031 rs1760903 rs2228041 rs1760904 rs12886088 rs2229100 rs1713457 rs1713456 rs34401320 rs8022805 rs1713449 rs35929175 rs938886 rs2104978 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99973-1; Sequence=Displayed; Name=2; IsoId=Q99973-2; Sequence=VSP_010359; Note=May be due to an exon inclusion.; 


uniprotID: P55072
geneSymbol: VCP
length: 806
go: ENSG00000165280;
drug: DB04395;
reactome:
R-HSA-110320;R-HSA-3371511;R-HSA-382556;R-HSA-532668;R-HSA-5358346;R-HSA-5362768;R-HSA-5678895;R-HSA-5689877;R-HSA-5689896;R-HSA-6798695;R-HSA-8866654;R-HSA-8876725;

pdb:
3EBB;3HU1;3HU2;3HU3;3QC8;3QQ7;3QQ8;3QWZ;3TIW;4KDI;4KDL;4KLN;4KO8;4KOD;4P0A;5B6C;5C18;5C19;5C1A;5C1B;5DYG;5DYI;5EPP;5FTJ;5FTK;5FTL;5FTM;5FTN;5GLF;5IFS;5IFW;5KIW;5KIY;5X4L;

name:
Transitional endoplasmic reticulum ATPase (TER ATPase) (EC 3.6.4.6) (15S Mg(2+)-ATPase p97 subunit) (Valosin-containing protein) (VCP)

sequence:

opentargets:
ATPase complex [GO:1904949]; azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; Derlin-1 retrotranslocation complex [GO:0036513]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; glutamatergic synapse [GO:0098978]; intracellular membrane-bounded organelle [GO:0043231]; lipid droplet [GO:0005811]; myelin sheath [GO:0043209]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; proteasome complex [GO:0000502]; protein-containing complex [GO:0032991]; secretory granule lumen [GO:0034774]; site of double-strand break [GO:0035861]; VCP-NPL4-UFD1 AAA ATPase complex [GO:0034098]; VCP-NSFL1C complex [GO:1990730]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; BAT3 complex binding [GO:1904288]; deubiquitinase activator activity [GO:0035800]; identical protein binding [GO:0042802]; K48-linked polyubiquitin modification-dependent protein binding [GO:0036435]; lipid binding [GO:0008289]; MHC class I protein binding [GO:0042288]; polyubiquitin modification-dependent protein binding [GO:0031593]; protein domain specific binding [GO:0019904]; protein phosphatase binding [GO:0019903]; RNA binding [GO:0003723]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-like protein ligase binding [GO:0044389]; ubiquitin-specific protease binding [GO:1990381]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; aggresome assembly [GO:0070842]; ATP metabolic process [GO:0046034]; autophagosome maturation [GO:0097352]; autophagy [GO:0006914]; cellular response to arsenite ion [GO:1903843]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to heat [GO:0034605]; DNA repair [GO:0006281]; double-strand break repair [GO:0006302]; endoplasmic reticulum stress-induced pre-emptive quality control [GO:0061857]; endoplasmic reticulum unfolded protein response [GO:0030968]; endosome to lysosome transport via multivesicular body sorting pathway [GO:0032510]; ER to Golgi vesicle-mediated transport [GO:0006888]; ER-associated misfolded protein catabolic process [GO:0071712]; ERAD pathway [GO:0036503]; error-free translesion synthesis [GO:0070987]; establishment of protein localization [GO:0045184]; flavin adenine dinucleotide catabolic process [GO:0072389]; macroautophagy [GO:0016236]; mitotic spindle disassembly [GO:0051228]; NADH metabolic process [GO:0006734]; neutrophil degranulation [GO:0043312]; positive regulation of ATP biosynthetic process [GO:2001171]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of Lys63-specific deubiquitinase activity [GO:1903007]; positive regulation of mitochondrial membrane potential [GO:0010918]; positive regulation of oxidative phosphorylation [GO:1903862]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of protein K63-linked deubiquitination [GO:1903006]; proteasomal protein catabolic process [GO:0010498]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; protein folding [GO:0006457]; protein hexamerization [GO:0034214]; protein homooligomerization [GO:0051260]; protein N-linked glycosylation via asparagine [GO:0018279]; protein ubiquitination [GO:0016567]; regulation of aerobic respiration [GO:1903715]; regulation of apoptotic process [GO:0042981]; regulation of synapse organization [GO:0050807]; retrograde protein transport, ER to cytosol [GO:0030970]; stress granule disassembly [GO:0035617]; translesion synthesis [GO:0019985]; transmembrane transport [GO:0055085]; ubiquitin-dependent ERAD pathway [GO:0030433]; viral genome replication [GO:0019079]

snps:
rs121909332 rs864309502 rs121909330 rs121909329 rs121909329 rs387906789 rs121909335 rs864309501 rs121909334 rs121909331 rs387906790 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15456787}. Endoplasmic reticulum {ECO:0000269|PubMed:15215856}. Nucleus {ECO:0000269|PubMed:23042605, ECO:0000269|PubMed:26842564}. Cytoplasm, Stress granule {ECO:0000269|PubMed:29804830}. Note=Present in the neuronal hyaline inclusion bodies specifically found in motor neurons from amyotrophic lateral sclerosis patients (PubMed:15456787). Present in the Lewy bodies specifically found in neurons from Parkinson disease patients (PubMed:15456787). Recruited to the cytoplasmic surface of the endoplasmic reticulum via interaction with AMFR/gp78 (PubMed:16168377). Following DNA double-strand breaks, recruited to the sites of damage (PubMed:22120668). Recruited to stalled replication forks via interaction with SPRTN (PubMed:23042605). Recruited to damaged lysosomes decorated with K48-linked ubiquitin chains (PubMed:27753622). Colocalizes with TIA1, ZFAND1 and G3BP1 in cytoplasmic stress granules (SGs) in response to arsenite-induced stress treatment (PubMed:29804830). {ECO:0000269|PubMed:15456787, ECO:0000269|PubMed:16168377, ECO:0000269|PubMed:22120668, ECO:0000269|PubMed:23042605, ECO:0000269|PubMed:27753622, ECO:0000269|PubMed:29804830}.


uniprotID: Q9H5Q4
geneSymbol: TFB2M
reactome: R-HSA-163282;R-HSA-2151201;
pdb: 6ERO;6ERP;6ERQ;
length: 396
go: ENSG00000162851;
snps: rs148620105 rs143880306 rs11585481 rs12037377
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Dimethyladenosine transferase 2, mitochondrial (EC 2.1.1.-) (Hepatitis C virus NS5A-transactivated protein 5) (HCV NS5A-transactivated protein 5) (Mitochondrial 12S rRNA dimethylase 2) (Mitochondrial transcription factor B2) (h-mtTFB) (h-mtTFB2) (hTFB2M) (mtTFB2) (S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 2)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; RNA binding [GO:0003723]; rRNA (adenine-N6,N6-)-dimethyltransferase activity [GO:0000179]; transcription coregulator activity [GO:0003712]; mitochondrial transcription [GO:0006390]; mitochondrion organization [GO:0007005]; positive regulation of transcription, DNA-templated [GO:0045893]; rRNA methylation [GO:0031167]; transcription initiation from mitochondrial promoter [GO:0006391]


uniprotID: Q12800
geneSymbol: TFCP2
name: Alpha-globin transcription factor CP2 (SAA3 enhancer factor) (Transcription factor LSF)
length: 502
go: ENSG00000135457;
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein C-terminus binding [GO:0008022]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter sequence-specific DNA binding [GO:0000987]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; mRNA transcription by RNA polymerase II [GO:0042789]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=LBP-1c; IsoId=Q12800-1; Sequence=Displayed; Name=2; IsoId=Q12800-2; Sequence=VSP_017647, VSP_017648; Name=3; Synonyms=LBP-1d; IsoId=Q12800-3; Sequence=VSP_017647; Name=4; IsoId=Q12800-4; Sequence=VSP_017648; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:1732747, ECO:0000269|PubMed:7828600, ECO:0000269|PubMed:8114710}.


uniprotID: Q14186
geneSymbol: TFDP1
pdb: 2AZE;5GOW;5TUU;5TUV;
name: Transcription factor Dp-1 (DRTF1-polypeptide 1) (DRTF1) (E2F dimerization partner 1)
length: 410
go: ENSG00000198176;
snps: rs4150823
reactome:
R-HSA-111448;R-HSA-113501;R-HSA-1362277;R-HSA-1362300;R-HSA-139915;R-HSA-1538133;R-HSA-1912408;R-HSA-2173796;R-HSA-2559580;R-HSA-2559585;R-HSA-539107;R-HSA-6804114;R-HSA-69202;R-HSA-69231;R-HSA-69656;R-HSA-8953750;

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein domain specific binding [GO:0019904]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; anoikis [GO:0043276]; cell proliferation [GO:0008283]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; epidermis development [GO:0008544]; negative regulation of fat cell proliferation [GO:0070345]; negative regulation of G0 to G1 transition [GO:0070317]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of DNA biosynthetic process [GO:2000278]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14186-1; Sequence=Displayed; Name=2; IsoId=Q14186-2; Sequence=VSP_056499, VSP_056500; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q08639}. Cytoplasm {ECO:0000250|UniProtKB:Q08639}. Note=Shuttles between the cytoplasm and nucleus and translocates into the nuclear compartment upon heterodimerization with E2F1. {ECO:0000250|UniProtKB:Q08639}.


uniprotID: Q14188
geneSymbol: TFDP2
pdb: 1CF7;
name: Transcription factor Dp-2 (E2F dimerization partner 2)
length: 446
go: ENSG00000114126;
snps: rs748095099 rs11569200
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-111448;R-HSA-113501;R-HSA-1362277;R-HSA-1362300;R-HSA-139915;R-HSA-1538133;R-HSA-1912408;R-HSA-2173796;R-HSA-2559580;R-HSA-2559585;R-HSA-539107;R-HSA-6804114;R-HSA-69202;R-HSA-69231;R-HSA-69656;R-HSA-8953750;

sequence:

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein domain specific binding [GO:0019904]; transcription coregulator activity [GO:0003712]; transcription factor binding [GO:0008134]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; heart development [GO:0007507]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=Alpha; Synonyms=49 kDa; IsoId=Q14188-1; Sequence=Displayed; Name=Beta; Synonyms=43 kDa; IsoId=Q14188-2; Sequence=VSP_001352, VSP_001353; Note=Gene prediction based on similarity to mouse ortholog. No experimental confirmation available.; Name=Gamma; IsoId=Q14188-3; Sequence=VSP_001352, VSP_001353, VSP_001354; Note=Gene prediction based on similarity to mouse ortholog. No experimental confirmation available.; Name=Delta; Synonyms=48 kDa; IsoId=Q14188-4; Sequence=VSP_001352; Name=Epsilon; IsoId=Q14188-5; Sequence=VSP_001352, VSP_001354; Name=6; IsoId=Q14188-6; Sequence=VSP_043140, VSP_043141; Name=7; IsoId=Q14188-7; Sequence=VSP_045455; Note=No experimental confirmation available.; Name=8; IsoId=Q14188-8; Sequence=VSP_047415; Note=No experimental confirmation available.; 


uniprotID: Q5H9I0
geneSymbol: TFDP3
length: 405
go: ENSG00000183434;
name:
Transcription factor Dp family member 3 (Cancer/testis antigen 30) (CT30) (Hepatocellular carcinoma-associated antigen 661)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; cellular response to DNA damage stimulus [GO:0006974]; G1/S transition of mitotic cell cycle [GO:0000082]; regulation of cell cycle [GO:0051726]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Translocates to the nucleus on heterodimerization with E2F family members.


uniprotID: P15923
geneSymbol: TCF3
reactome: R-HSA-375170;R-HSA-8939236;
pdb: 1HLH;2MH0;2YPA;2YPB;3U5V;
length: 654
go: ENSG00000071564;
snps: rs376780559 rs35354874 rs11879402 rs1052692
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcription factor E2-alpha (Class B basic helix-loop-helix protein 21) (bHLHb21) (Immunoglobulin enhancer-binding factor E12/E47) (Immunoglobulin transcription factor 1) (Kappa-E2-binding factor) (Transcription factor 3) (TCF-3) (Transcription factor ITF-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; RNA polymerase II transcription factor complex [GO:0090575]; transcription factor complex [GO:0005667]; bHLH transcription factor binding [GO:0043425]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; enhancer binding [GO:0035326]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; repressing transcription factor binding [GO:0070491]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; vitamin D response element binding [GO:0070644]; B cell differentiation [GO:0030183]; B cell lineage commitment [GO:0002326]; immunoglobulin V(D)J recombination [GO:0033152]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cell cycle [GO:0045787]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=E12; Synonyms=PAN-2; IsoId=P15923-1; Sequence=Displayed; Name=E47; Synonyms=PAN-1; IsoId=P15923-2; Sequence=VSP_002155; Note=The bHLH domain encompassing amino acids 546 to 599 is sufficient to mediate DNA-binding and homodimerization. Combined mutagenesis of Phe-566 and Leu-569 to Asp-566 and Glu-569, mutagenesis of Lys-585 to Ala-585 or combined mutagenesis of Ile-588 and Leu-589 to Asp-588 and Glu-589 prevents DNA-binding and homodimerization. Mutagenesis of Arg-548 to Lys-548, combined mutagenesis of Arg-547 and Arg-548 to Gly-547 and Gly-548, mutagenesis of Arg-556 to Lys-556, mutagenesis of Arg-558 to Lys-558, or combined mutagenesis of Arg-556 and Arg-558 to Gly-556 and Gly-558, alter DNA-binding but not dimerization. {ECO:0000244|PubMed:18669648, ECO:0000269|PubMed:24216514}; Name=3; IsoId=P15923-3; Sequence=VSP_057277, VSP_057278; Note=No experimental confirmation available.; 


uniprotID: P19532
geneSymbol: TFE3
name: Transcription factor E3 (Class E basic helix-loop-helix protein 33) (bHLHe33)
length: 575
go: ENSG00000068323;
snps: rs5953258 rs3027470
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region DNA binding [GO:0044212]; adaptive immune response [GO:0002250]; humoral immune response [GO:0006959]; negative regulation of cold-induced thermogenesis [GO:0120163]; positive regulation of cell adhesion [GO:0045785]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of osteoclast differentiation [GO:0045670]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P19532-1; Sequence=Displayed; Name=2; IsoId=P19532-2; Sequence=VSP_056882, VSP_056883; Note=No experimental confirmation available.; 


uniprotID: P19484
geneSymbol: TFEB
name: Transcription factor EB (Class E basic helix-loop-helix protein 35) (bHLHe35)
length: 476
go: ENSG00000112561;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; transcription regulatory region DNA binding [GO:0044212]; adaptive immune response [GO:0002250]; autophagy [GO:0006914]; embryonic placenta development [GO:0001892]; humoral immune response [GO:0006959]; lysosome organization [GO:0007040]; positive regulation of autophagy [GO:0010508]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P19484-1; Sequence=Displayed; Name=2; IsoId=P19484-2; Sequence=VSP_002159; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23434374, ECO:0000269|PubMed:27184844}. Nucleus {ECO:0000269|PubMed:23434374, ECO:0000269|PubMed:27184844}. Note=Mainly present in the cytoplasm (PubMed:23434374). Under aberrant lysosomal storage conditions, it translocates from the cytoplasm to the nucleus (PubMed:23434374). In macrophages, translocates into the nucleus upon live S.enterica infection (PubMed:27184844). {ECO:0000269|PubMed:23434374, ECO:0000269|PubMed:27184844}.


uniprotID: O14948
geneSymbol: TFEC
length: 347
go: ENSG00000105967;
snps: rs35695387 rs35170691
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:11467950}.
name:
Transcription factor EC (TFE-C) (Class E basic helix-loop-helix protein 34) (bHLHe34) (Transcription factor EC-like) (hTFEC-L)

sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; cellular response to heat [GO:0034605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=TFEC-l, TFECL; IsoId=O14948-1; Sequence=Displayed; Name=2; Synonyms=TFEC-s; IsoId=O14948-2; Sequence=VSP_030023; Name=3; IsoId=O14948-3; Sequence=VSP_030023, VSP_030025, VSP_030026; Note=No experimental confirmation available.; Name=4; Synonyms=TFEC-C; IsoId=O14948-4; Sequence=VSP_030022, VSP_030024; 


uniprotID: Q03167
geneSymbol: TGFBR3
length: 851
go: ENSG00000069702;
snps: rs17884205 rs1805110 rs17885124 rs11466592 rs17882578 rs17882828 rs2228363
name:
Transforming growth factor beta receptor type 3 (TGF-beta receptor type 3) (TGFR-3) (Betaglycan) (Transforming growth factor beta receptor III) (TGF-beta receptor type III)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; inhibin-betaglycan-ActRII complex [GO:0034673]; integral component of plasma membrane [GO:0005887]; receptor complex [GO:0043235]; activin binding [GO:0048185]; coreceptor activity [GO:0015026]; fibroblast growth factor binding [GO:0017134]; glycosaminoglycan binding [GO:0005539]; heparin binding [GO:0008201]; PDZ domain binding [GO:0030165]; SMAD binding [GO:0046332]; transforming growth factor beta binding [GO:0050431]; transforming growth factor beta receptor activity, type III [GO:0070123]; transforming growth factor beta receptor binding [GO:0005160]; transforming growth factor beta-activated receptor activity [GO:0005024]; type II transforming growth factor beta receptor binding [GO:0005114]; animal organ regeneration [GO:0031100]; BMP signaling pathway [GO:0030509]; cardiac epithelial to mesenchymal transition [GO:0060317]; cardiac muscle cell proliferation [GO:0060038]; cell migration [GO:0016477]; definitive erythrocyte differentiation [GO:0060318]; definitive hemopoiesis [GO:0060216]; epicardium-derived cardiac fibroblast cell development [GO:0060939]; epithelial to mesenchymal transition [GO:0001837]; heart morphogenesis [GO:0003007]; heart trabecula formation [GO:0060347]; heart trabecula morphogenesis [GO:0061384]; immune response [GO:0006955]; intracellular signal transduction [GO:0035556]; liver development [GO:0001889]; muscular septum morphogenesis [GO:0003150]; negative regulation of cellular component movement [GO:0051271]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; outflow tract morphogenesis [GO:0003151]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; regulation of protein binding [GO:0043393]; response to follicle-stimulating hormone [GO:0032354]; response to hypoxia [GO:0001666]; response to luteinizing hormone [GO:0034699]; response to prostaglandin E [GO:0034695]; secondary palate development [GO:0062009]; transforming growth factor beta receptor complex assembly [GO:0007181]; transforming growth factor beta receptor signaling pathway [GO:0007179]; vasculogenesis involved in coronary vascular morphogenesis [GO:0060979]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]; ventricular compact myocardium morphogenesis [GO:0003223]; ventricular septum morphogenesis [GO:0060412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q03167-1; Sequence=Displayed; Name=2; IsoId=Q03167-2; Sequence=VSP_040018; 

location:
SUBCELLULAR LOCATION: Secreted. Secreted, extracellular space. Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Exists both as a membrane-bound form and as soluble form in serum and in the extracellular matrix.


uniprotID: P37173
geneSymbol: TGFBR2
pdb: 1KTZ;1M9Z;1PLO;2PJY;3KFD;4P7U;4XJJ;5E8V;5E8Y;5E91;5E92;5TX4;5TY4;
length: 567
go: ENSG00000163513;
drug: DB04077;
reactome:
R-HSA-2173788;R-HSA-2173789;R-HSA-2173791;R-HSA-3304356;R-HSA-3315487;R-HSA-3642279;R-HSA-3645790;R-HSA-3656532;R-HSA-3656535;R-HSA-5689603;

name:
TGF-beta receptor type-2 (TGFR-2) (EC 2.7.11.30) (TGF-beta type II receptor) (Transforming growth factor-beta receptor type II) (TGF-beta receptor type II) (TbetaR-II)

sequence:

opentargets:
caveola [GO:0005901]; cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; transforming growth factor beta receptor complex [GO:0070022]; ATP binding [GO:0005524]; glycosaminoglycan binding [GO:0005539]; growth factor binding [GO:0019838]; metal ion binding [GO:0046872]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; SMAD binding [GO:0046332]; transforming growth factor beta binding [GO:0050431]; transforming growth factor beta receptor activity, type II [GO:0005026]; transforming growth factor beta-activated receptor activity [GO:0005024]; transmembrane receptor protein serine/threonine kinase activity [GO:0004675]; type I transforming growth factor beta receptor binding [GO:0034713]; type III transforming growth factor beta receptor binding [GO:0034714]; activation of protein kinase activity [GO:0032147]; aging [GO:0007568]; animal organ regeneration [GO:0031100]; apoptotic process [GO:0006915]; atrioventricular valve morphogenesis [GO:0003181]; blood vessel development [GO:0001568]; brain development [GO:0007420]; branching involved in blood vessel morphogenesis [GO:0001569]; bronchus morphogenesis [GO:0060434]; cardiac left ventricle morphogenesis [GO:0003214]; common-partner SMAD protein phosphorylation [GO:0007182]; digestive tract development [GO:0048565]; embryo implantation [GO:0007566]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic hemopoiesis [GO:0035162]; endocardial cushion fusion [GO:0003274]; gastrulation [GO:0007369]; growth plate cartilage chondrocyte growth [GO:0003430]; heart development [GO:0007507]; heart looping [GO:0001947]; in utero embryonic development [GO:0001701]; inferior endocardial cushion morphogenesis [GO:1905317]; lens development in camera-type eye [GO:0002088]; lens fiber cell apoptotic process [GO:1990086]; lung lobe morphogenesis [GO:0060463]; mammary gland morphogenesis [GO:0060443]; membranous septum morphogenesis [GO:0003149]; miRNA transport [GO:1990428]; myeloid dendritic cell differentiation [GO:0043011]; negative regulation of cardiac muscle cell proliferation [GO:0060044]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; Notch signaling pathway [GO:0007219]; outflow tract morphogenesis [GO:0003151]; outflow tract septum morphogenesis [GO:0003148]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; pattern specification process [GO:0007389]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of angiogenesis [GO:0045766]; positive regulation of B cell tolerance induction [GO:0002663]; positive regulation of CD4-positive, alpha-beta T cell proliferation [GO:2000563]; 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 mesenchymal cell proliferation [GO:0002053]; positive regulation of NK T cell differentiation [GO:0051138]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; positive regulation of skeletal muscle tissue regeneration [GO:0043415]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of T cell tolerance induction [GO:0002666]; positive regulation of tolerance induction to self antigen [GO:0002651]; protein phosphorylation [GO:0006468]; receptor-mediated endocytosis [GO:0006898]; regulation of cell proliferation [GO:0042127]; regulation of gene expression [GO:0010468]; response to cholesterol [GO:0070723]; response to drug [GO:0042493]; response to estrogen [GO:0043627]; response to glucose [GO:0009749]; response to hypoxia [GO:0001666]; response to mechanical stimulus [GO:0009612]; response to nutrient [GO:0007584]; response to steroid hormone [GO:0048545]; secondary palate development [GO:0062009]; smoothened signaling pathway [GO:0007224]; trachea formation [GO:0060440]; transforming growth factor beta receptor signaling pathway [GO:0007179]; tricuspid valve morphogenesis [GO:0003186]; vasculogenesis [GO:0001570]; ventricular septum morphogenesis [GO:0060412]; wound healing [GO:0042060]

snps:
rs17025864 rs780542125 rs56105708 rs761231369 rs28934568 rs34833812 rs104893812 rs104893813 rs104893814 rs35719192 rs35766612 rs1050833 rs886039551 rs104893807 rs104893811 rs104893816 rs863223853 rs193922664 rs121918714 rs104893810 rs104893815 rs104893809 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P37173-1; Sequence=Displayed; Name=2; IsoId=P37173-2; Sequence=VSP_012157; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1310899, ECO:0000269|PubMed:25893292}; Single-pass type I membrane protein {ECO:0000269|PubMed:1310899}. Membrane raft {ECO:0000269|PubMed:25893292}.


uniprotID: Q15583
geneSymbol: TGIF1
reactome: R-HSA-2173795;R-HSA-2173796;
pdb: 2LK2;6FQP;6FQQ;
name: Homeobox protein TGIF1 (5'-TG-3'-interacting factor 1)
length: 401
go: ENSG00000177426;
snps: rs121909066 rs121909067 rs28939693 rs121909068 rs11571512 rs121909069 rs2229333 rs4468717
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; co-SMAD binding [GO:0070410]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription corepressor activity [GO:0003714]; cellular response to growth factor stimulus [GO:0071363]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; response to drug [GO:0042493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q15583-1; Sequence=Displayed; Name=2; IsoId=Q15583-2; Sequence=VSP_013020, VSP_013021; Name=3; IsoId=Q15583-3; Sequence=VSP_043108, VSP_043109; Name=4; IsoId=Q15583-4; Sequence=VSP_046848; Note=No experimental confirmation available.; 


uniprotID: O95932
geneSymbol: TGM6
length: 706
go: ENSG00000166948;
drug: DB00130;
snps: rs2076405 rs372250159 rs387907098 rs201964784 rs387907097
name:
Protein-glutamine gamma-glutamyltransferase 6 (EC 2.3.2.13) (Transglutaminase Y) (TGY) (TGase Y) (Transglutaminase-3-like) (TGase-3-like) (Transglutaminase-6) (TG6) (TGase-6)

sequence:

opentargets:
cytoplasm [GO:0005737]; metal ion binding [GO:0046872]; protein-glutamine gamma-glutamyltransferase activity [GO:0003810]; peptide cross-linking [GO:0018149]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=O95932-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O95932-2; Sequence=VSP_015103, VSP_015104; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23206699, ECO:0000269|PubMed:25253745, ECO:0000269|PubMed:29053796}.


uniprotID: O43548
geneSymbol: TGM5
reactome: R-HSA-6809371;
length: 720
go: ENSG00000104055;
drug: DB00130;
snps: rs757598618 rs113463533 rs112292549 rs28756768 rs7171797 rs35985214
name:
Protein-glutamine gamma-glutamyltransferase 5 (EC 2.3.2.13) (Transglutaminase X) (TG(X)) (TGX) (TGase X) (Transglutaminase-5) (TGase-5)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; protein-glutamine gamma-glutamyltransferase activity [GO:0003810]; cellular protein modification process [GO:0006464]; cornification [GO:0070268]; epidermis development [GO:0008544]; peptide cross-linking [GO:0018149]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=O43548-1; Sequence=Displayed; Name=Short; IsoId=O43548-2; Sequence=VSP_006415; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15290349}. Note=Associated with intermediate filaments.


uniprotID: Q5JRA6
geneSymbol: MIA3
reactome: R-HSA-381426;R-HSA-5694530;R-HSA-8957275;
pdb: 5KYN;5KYU;5KYW;
length: 1907
go: ENSG00000154305;
snps: rs2936053 rs2936052 rs2936051 rs17857325 rs17854428
name:
Transport and Golgi organization protein 1 homolog (TANGO1) (C219-reactive peptide) (D320) (Melanoma inhibitory activity protein 3)

sequence:

opentargets:
endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; lipoprotein transporter activity [GO:0042954]; cargo loading into COPII-coated vesicle [GO:0090110]; cargo loading into vesicle [GO:0035459]; cell migration involved in sprouting angiogenesis [GO:0002042]; cellular protein metabolic process [GO:0044267]; cellular response to oxidised low-density lipoprotein particle stimulus [GO:0140052]; ER to Golgi vesicle-mediated transport [GO:0006888]; exocytosis [GO:0006887]; lipoprotein transport [GO:0042953]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cell migration [GO:0030336]; negative regulation of leukocyte cell-cell adhesion [GO:1903038]; negative regulation of lymphocyte migration [GO:2000402]; positive regulation of leukocyte migration [GO:0002687]; post-translational protein modification [GO:0043687]; protein localization to endoplasmic reticulum exit site [GO:0070973]; protein secretion [GO:0009306]; protein transport [GO:0015031]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=TANGO1L {ECO:0000303|PubMed:28442536}; IsoId=Q5JRA6-1; Sequence=Displayed; Name=2; IsoId=Q5JRA6-2; Sequence=VSP_025864; Name=3; IsoId=Q5JRA6-3; Sequence=VSP_025861, VSP_025862; Name=4; Synonyms=TANGO1S {ECO:0000303|PubMed:28442536}; IsoId=Q5JRA6-4; Sequence=VSP_025860, VSP_025863; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19269366, ECO:0000269|PubMed:21525241}; Single-pass membrane protein {ECO:0000269|PubMed:19269366}. Note=Localizes at endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). SEC16A is required for its proper localization to ERES. After loading of COL7A1 into transport carriers, it is not incorporated into COPII carriers and remains in the endoplasmic reticulum membrane. {ECO:0000269|PubMed:19269366, ECO:0000269|PubMed:21525241, ECO:0000269|PubMed:28442536}.


uniprotID: O43493
geneSymbol: TGOLN2
reactome: R-HSA-381426;R-HSA-432722;R-HSA-6811440;R-HSA-8856825;R-HSA-8856828;R-HSA-8957275;
length: 479
go: ENSG00000152291;
snps: rs1128140 rs1044962 rs1044963 rs1044964 rs4247303 rs1044969
name:
Trans-Golgi network integral membrane protein 2 (TGN38 homolog) (TGN46) (TGN48) (Trans-Golgi network protein TGN51)

sequence:

opentargets:
clathrin-coated vesicle membrane [GO:0030665]; endoplasmic reticulum lumen [GO:0005788]; endosome [GO:0005768]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; trans-Golgi network transport vesicle [GO:0030140]; transport vesicle [GO:0030133]; cellular protein metabolic process [GO:0044267]; membrane organization [GO:0061024]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=TGN51; IsoId=O43493-1; Sequence=Displayed; Name=TGN46; IsoId=O43493-2; Sequence=VSP_004454; Name=TGN48; IsoId=O43493-3; Sequence=VSP_004455; Name=4; IsoId=O43493-4; Sequence=VSP_027470, VSP_004454; Note=No experimental confirmation available.; Name=5; IsoId=O43493-5; Sequence=VSP_027471; Note=No experimental confirmation available.; Name=6; IsoId=O43493-6; Sequence=VSP_027469, VSP_027470, VSP_004454; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Note=Primarily in trans-Golgi network. Cycles between the trans-Golgi network and the cell surface returning via endosomes.


uniprotID: Q9Y4F4
geneSymbol: TOGARAM1
name: TOG array regulator of axonemal microtubules protein 1 (Crescerin-1) (Protein FAM179B)
length: 1720
go: ENSG00000198718;
snps: rs3825629 rs3742591
sequence:

opentargets:
ciliary basal body [GO:0036064]; cilium [GO:0005929]; cytoplasm [GO:0005737]; axoneme assembly [GO:0035082]; non-motile cilium assembly [GO:1905515]; positive regulation of microtubule polymerization [GO:0031116]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y4F4-1; Sequence=Displayed; Name=2; IsoId=Q9Y4F4-2; Sequence=VSP_020822, VSP_020823; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y4F4-3; Sequence=VSP_020821, VSP_020824; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q6A070}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q6A070}. Note=Detected along the length of primary cilia and at the basal body. Colocalization with the cytoplasmic microtubule cytoskeleton upon heterologous expression is most likely an artifact. {ECO:0000250|UniProtKB:Q6A070}.


uniprotID: Q6ZUX3
geneSymbol: TOGARAM2
name: TOG array regulator of axonemal microtubules protein 2 (Crescerin-2)
length: 1019
go: ENSG00000189350;
snps: rs13009279 rs12623297 rs11127202 rs1109758 rs6721861 rs60403047 rs895591 rs7577483
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZUX3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6ZUX3-2; Sequence=VSP_032492; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZUX3-3; Sequence=VSP_032491, VSP_032493, VSP_032494, VSP_032495; Note=No experimental confirmation available.; 


uniprotID: Q9H987
geneSymbol: SYNPO2L
name: Synaptopodin 2-like protein
length: 977
go: ENSG00000166317;
snps: rs57006992 rs3812629 rs34163229
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell junction [GO:0030054]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Z disc [GO:0030018]; actin binding [GO:0003779]; positive regulation of actin filament bundle assembly [GO:0032233]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H987-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9H987-2; Sequence=VSP_011495, VSP_011496; 


uniprotID: Q16563
geneSymbol: SYPL1
name: Synaptophysin-like protein 1 (Pantophysin)
length: 259
go: ENSG00000008282;
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of synaptic vesicle membrane [GO:0030285]; melanosome [GO:0042470]; secretory granule [GO:0030141]; chemical synaptic transmission [GO:0007268]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16563-1; Sequence=Displayed; Name=2; IsoId=Q16563-2; Sequence=VSP_008557; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Cytoplasmic transport vesicles (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000250}.


uniprotID: Q5VXT5
geneSymbol: SYPL2
name: Synaptophysin-like protein 2
length: 272
go: ENSG00000143028;
sequence:

opentargets:
integral component of membrane [GO:0016021]; synaptic vesicle [GO:0008021]; cellular calcium ion homeostasis [GO:0006874]; substantia nigra development [GO:0021762]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VXT5-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5VXT5-2; Sequence=VSP_014268; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Triad junction, the junctional complex between the transverse tubule and the sarcoplasmic reticulum. {ECO:0000250}.


uniprotID: P14410
geneSymbol: SI
reactome: R-HSA-189085;R-HSA-5659898;
pdb: 3LPO;3LPP;
name: Sucrase-isomaltase, intestinal [Cleaved into: Sucrase (EC 3.2.1.48); Isomaltase (EC 3.2.1.10)]
length: 1827
go: ENSG00000090402;
drug: DB00284;DB00747;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border [GO:0005903]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; alpha-1,4-glucosidase activity [GO:0004558]; carbohydrate binding [GO:0030246]; oligo-1,6-glucosidase activity [GO:0004574]; sucrose alpha-glucosidase activity [GO:0004575]; carbohydrate metabolic process [GO:0005975]; polysaccharide digestion [GO:0044245]

snps:
rs9290264 rs121912612 rs9283633 rs267607049 rs121912615 rs765433197 rs121912613 rs121912616 rs121912611 rs121912614 rs143388292 rs4855271 rs79717168 rs9917722 

location:
SUBCELLULAR LOCATION: Apical cell membrane; Single-pass type II membrane protein. Note=Brush border.


uniprotID: Q9H5I1
geneSymbol: SUV39H2
reactome: R-HSA-3214841;
pdb: 2R3A;
length: 410
go: ENSG00000152455;
name:
Histone-lysine N-methyltransferase SUV39H2 (EC 2.1.1.43) (Histone H3-K9 methyltransferase 2) (H3-K9-HMTase 2) (Lysine N-methyltransferase 1B) (Suppressor of variegation 3-9 homolog 2) (Su(var)3-9 homolog 2)

sequence:

opentargets:
chromatin [GO:0000785]; chromosome, centromeric region [GO:0000775]; nucleoplasm [GO:0005654]; histone methyltransferase activity (H3-K9 specific) [GO:0046974]; histone-lysine N-methyltransferase activity [GO:0018024]; S-adenosyl-L-methionine binding [GO:1904047]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; cell cycle [GO:0007049]; cell differentiation [GO:0030154]; cellular response to hypoxia [GO:0071456]; chromatin assembly or disassembly [GO:0006333]; chromatin remodeling [GO:0006338]; histone H3-K9 dimethylation [GO:0036123]; histone H3-K9 trimethylation [GO:0036124]; negative regulation of circadian rhythm [GO:0042754]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; rhythmic process [GO:0048511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q9H5I1-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=1; IsoId=Q9H5I1-2; Sequence=VSP_002209; Name=2; IsoId=Q9H5I1-3; Sequence=VSP_002210; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Chromosome, centromere {ECO:0000250}. Note=Associates with centromeric constitutive heterochromatin. {ECO:0000250}.


uniprotID: P68371
geneSymbol: TUBB4B
name: Tubulin beta-4B chain (Tubulin beta-2 chain) (Tubulin beta-2C chain)
length: 445
go: ENSG00000188229;
drug: DB00518;DB05147;DB03010;DB01873;DB00643;DB04910;
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-6798695;R-HSA-6807878;R-HSA-6811434;R-HSA-6811436;R-HSA-68877;R-HSA-8852276;R-HSA-8854518;R-HSA-8955332;R-HSA-983189;

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular vesicle [GO:1903561]; microtubule [GO:0005874]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; double-stranded RNA binding [GO:0003725]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; MHC class I protein binding [GO:0042288]; structural constituent of cytoskeleton [GO:0005200]; unfolded protein binding [GO:0051082]; 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]; natural killer cell mediated cytotoxicity [GO:0042267]; neutrophil degranulation [GO:0043312]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]


uniprotID: Q9GZN2
geneSymbol: TGIF2
reactome: R-HSA-2173795;R-HSA-2173796;
length: 237
go: ENSG00000118707;
location: SUBCELLULAR LOCATION: Nucleus. Note=Excluded from nucleoli.
name:
Homeobox protein TGIF2 (5'-TG-3'-interacting factor 2) (TGF-beta-induced transcription factor 2) (TGFB-induced factor 2)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nodal signaling pathway [GO:0038092]; positive regulation of neuron differentiation [GO:0045666]; regulation of gastrulation [GO:0010470]; regulation of transcription, DNA-templated [GO:0006355]; retina development in camera-type eye [GO:0060041]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZN2-1; Sequence=Displayed; Name=2; IsoId=Q9GZN2-2; Sequence=VSP_047346, VSP_047347; Note=No experimental confirmation available.; 


uniprotID: P22735
geneSymbol: TGM1
reactome: R-HSA-6809371;
pdb: 2XZZ;
length: 817
go: ENSG00000092295;
drug: DB00130;
location: SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
name:
Protein-glutamine gamma-glutamyltransferase K (EC 2.3.2.13) (Epidermal TGase) (Transglutaminase K) (TG(K)) (TGK) (TGase K) (Transglutaminase-1) (TGase-1)

sequence:

opentargets:
cornified envelope [GO:0001533]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intrinsic component of membrane [GO:0031224]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; protein-glutamine gamma-glutamyltransferase activity [GO:0003810]; cell envelope organization [GO:0043163]; cellular protein modification process [GO:0006464]; cornification [GO:0070268]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]; positive regulation of cell cycle [GO:0045787]; positive regulation of keratinocyte proliferation [GO:0010838]

snps:
rs41295338 rs121918729 rs398122901 rs397514524 rs200491579 rs2229462 rs147916609 rs121918716 rs121918718 rs531650682 rs121918719 rs778635368 rs121918728 rs878853259 rs121918732 rs549195122 rs781006633 rs201868387 rs764040146 rs397514523 rs121918725 rs749721551 rs121918727 rs121918730 rs753798494 rs121918731 rs121918731 rs397514525 rs143473912 rs143473912 rs121918717 rs771820315 rs779287673 rs202037016 rs41293794 rs121918720 rs121918722 rs121918723 rs121918723 rs121918726 rs121918721 rs121918721 rs991194429 rs904122716 rs1057517838 rs121918724 rs35312232 rs142404759 rs1044429462 rs2229464 rs147516124 rs35926651 rs201853046 rs2228337 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22735-1; Sequence=Displayed; Name=2; IsoId=P22735-2; Sequence=VSP_056840; Note=No experimental confirmation available.; 


uniprotID: P21980
geneSymbol: TGM2
pdb: 1FAU;1KV3;2Q3Z;3LY6;3S3J;3S3P;3S3S;4PYG;6A8P;
length: 687
go: ENSG00000198959;
drug: DB04315;DB00130;
snps: rs41274720 rs45530133 rs45567334 rs141603506 rs45629036 rs45556333
name:
Protein-glutamine gamma-glutamyltransferase 2 (EC 2.3.2.13) (Tissue transglutaminase) (Transglutaminase C) (TG(C)) (TGC) (TGase C) (Transglutaminase H) (TGase H) (Transglutaminase-2) (TGase-2)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; intrinsic component of plasma membrane [GO:0031226]; mitochondrion [GO:0005739]; GTP binding [GO:0005525]; metal ion binding [GO:0046872]; protein domain specific binding [GO:0019904]; protein-glutamine gamma-glutamyltransferase activity [GO:0003810]; apoptotic cell clearance [GO:0043277]; blood vessel remodeling [GO:0001974]; branching involved in salivary gland morphogenesis [GO:0060445]; isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine [GO:0018153]; negative regulation of endoplasmic reticulum calcium ion concentration [GO:0032471]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of inflammatory response [GO:0050729]; positive regulation of mitochondrial calcium ion concentration [GO:0051561]; positive regulation of smooth muscle cell proliferation [GO:0048661]; protein homooligomerization [GO:0051260]; salivary gland cavitation [GO:0060662]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P21980-1; Sequence=Displayed; Name=2; IsoId=P21980-2; Sequence=VSP_006411, VSP_006412; Name=3; Synonyms=TGH2; IsoId=P21980-3; Sequence=VSP_006413, VSP_006414; 


uniprotID: Q08188
geneSymbol: TGM3
pdb: 1L9M;1L9N;1NUD;1NUF;1NUG;
length: 693
go: ENSG00000125780;
drug: DB01864;DB03152;DB04315;DB01972;DB00130;
snps: rs214803 rs6048066 rs214814 rs1042617 rs214830 rs45581032
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27866708}.
name:
Protein-glutamine gamma-glutamyltransferase E (EC 2.3.2.13) (Transglutaminase E) (TG(E)) (TGE) (TGase E) (Transglutaminase-3) (TGase-3) [Cleaved into: Protein-glutamine gamma-glutamyltransferase E 50 kDa catalytic chain; Protein-glutamine gamma-glutamyltransferase E 27 kDa non-catalytic chain]

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; calcium ion binding [GO:0005509]; catalytic activity [GO:0003824]; protein-glutamine gamma-glutamyltransferase activity [GO:0003810]; transferase activity, transferring acyl groups [GO:0016746]; cell envelope organization [GO:0043163]; cellular protein modification process [GO:0006464]; hair follicle morphogenesis [GO:0031069]; keratinization [GO:0031424]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]; protein tetramerization [GO:0051262]


uniprotID: P49221
geneSymbol: TGM4
length: 684
go: ENSG00000163810;
drug: DB00130;
snps: rs2271087 rs9818345 rs937838 rs1995641 rs3749195 rs13326552 rs17077022 rs9876921 rs1395388
name:
Protein-glutamine gamma-glutamyltransferase 4 (EC 2.3.2.13) (Fibrinoligase) (Prostate transglutaminase) (Prostate-specific transglutaminase) (Transglutaminase P) (TG(P)) (TGP) (TGase P) (Transglutaminase-4) (TGase-4)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; metal ion binding [GO:0046872]; protein-glutamine gamma-glutamyltransferase activity [GO:0003810]; peptide cross-linking [GO:0018149]


uniprotID: Q96PF1
geneSymbol: TGM7
length: 710
go: ENSG00000159495;
drug: DB00130;
name:
Protein-glutamine gamma-glutamyltransferase Z (Transglutaminase Z) (TG(Z)) (TGZ) (TGase Z) (EC 2.3.2.13) (Transglutaminase-7) (TGase-7)

sequence:

opentargets:
metal ion binding [GO:0046872]; protein-glutamine gamma-glutamyltransferase activity [GO:0003810]; peptide cross-linking [GO:0018149]


uniprotID: H3BV60
geneSymbol: TGFBR3L
length: 316
go: ENSG00000260001;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Transforming growth factor-beta receptor type 3-like protein (TGF-beta receptor type-3-like protein) (TGFR-3L) (Transforming growth factor-beta receptor type III-like protein) (TGF-beta receptor type III-like protein)

sequence:


uniprotID: Q7L3T8
geneSymbol: PARS2
reactome: R-HSA-379726;
name: Probable proline--tRNA ligase, mitochondrial (EC 6.1.1.15) (Prolyl-tRNA synthetase) (ProRS)
length: 475
go: ENSG00000162396;
drug: DB00172;
snps: rs11577368 rs2270004
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; ATP binding [GO:0005524]; proline-tRNA ligase activity [GO:0004827]; prolyl-tRNA aminoacylation [GO:0006433]


uniprotID: P08247
geneSymbol: SYP
name: Synaptophysin (Major synaptic vesicle protein p38)
length: 313
go: ENSG00000102003;
snps: rs200470034 rs137852561 rs782086106 rs139475570
sequence:

opentargets:
cell junction [GO:0030054]; excitatory synapse [GO:0060076]; integral component of synaptic vesicle membrane [GO:0030285]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; presynaptic active zone [GO:0048786]; presynaptic membrane [GO:0042734]; Schaffer collateral - CA1 synapse [GO:0098685]; synaptic vesicle [GO:0008021]; terminal bouton [GO:0043195]; cholesterol binding [GO:0015485]; identical protein binding [GO:0042802]; protein self-association [GO:0043621]; SH2 domain binding [GO:0042169]; cellular response to organic substance [GO:0071310]; endocytosis [GO:0006897]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of opioid receptor signaling pathway [GO:2000474]; regulation of short-term neuronal synaptic plasticity [GO:0048172]; regulation of synaptic vesicle exocytosis [GO:2000300]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle maturation [GO:0016188]; synaptic vesicle membrane organization [GO:0048499]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P08247-1; Sequence=Displayed; Name=2; IsoId=P08247-2; Sequence=VSP_056897; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:18662323}; Multi-pass membrane protein {ECO:0000255}. Cell junction, synapse, synaptosome {ECO:0000269|PubMed:18662323}.


uniprotID: Q9BXR0
geneSymbol: QTRT1
reactome: R-HSA-6782315;
pdb: 6H42;6H45;
length: 403
go: ENSG00000213339;
name:
Queuine tRNA-ribosyltransferase catalytic subunit 1 (EC 2.4.2.29) (Guanine insertion enzyme) (tRNA-guanine transglycosylase)

sequence:

opentargets:
mitochondrial outer membrane [GO:0005741]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; queuine tRNA-ribosyltransferase activity [GO:0008479]; tRNA modification [GO:0006400]; tRNA-guanine transglycosylation [GO:0101030]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXR0-1; Sequence=Displayed; Name=2; IsoId=Q9BXR0-2; Sequence=VSP_056470, VSP_056471; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03218}. Mitochondrion outer membrane {ECO:0000255|HAMAP-Rule:MF_03218}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03218}; Cytoplasmic side {ECO:0000255|HAMAP-Rule:MF_03218}. Note=Weakly associates with mitochondria, possibly via QTRT2. {ECO:0000255|HAMAP-Rule:MF_03218}.


uniprotID: Q8WTV1
geneSymbol: THAP3
name: THAP domain-containing protein 3
length: 239
go: ENSG00000041988;
sequence:

opentargets:
DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WTV1-1; Sequence=Displayed; Name=2; IsoId=Q8WTV1-3; Sequence=VSP_015136; Note=Gene prediction based on EST data.; Name=3; IsoId=Q8WTV1-4; Sequence=VSP_015137, VSP_015138, VSP_015139; Note=No experimental confirmation available.; 


uniprotID: Q8WY91
geneSymbol: THAP4
pdb: 3IA8;
name: THAP domain-containing protein 4
length: 577
go: ENSG00000176946;
snps: rs7424328
sequence:

opentargets:
DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WY91-1; Sequence=Displayed; Name=2; IsoId=Q8WY91-2; Sequence=VSP_020078, VSP_020079; 


uniprotID: Q7Z6K1
geneSymbol: THAP5
name: THAP domain-containing protein 5
length: 395
go: ENSG00000177683;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19502560, ECO:0000269|PubMed:21110952}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protease binding [GO:0002020]; cell cycle [GO:0007049]; negative regulation of cell cycle [GO:0045786]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z6K1-1; Sequence=Displayed; Name=2; IsoId=Q7Z6K1-2; Sequence=VSP_033558; 


uniprotID: Q8TBB0
geneSymbol: THAP6
name: THAP domain-containing protein 6
length: 222
go: ENSG00000174796;
sequence:

opentargets:
microtubule cytoskeleton [GO:0015630]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TBB0-1; Sequence=Displayed; Name=2; IsoId=Q8TBB0-2; Sequence=VSP_039072; Name=3; IsoId=Q8TBB0-3; Sequence=VSP_054378; Note=No experimental confirmation available.; 


uniprotID: Q9BT49
geneSymbol: THAP7
name: THAP domain-containing protein 7
length: 309
go: ENSG00000184436;
snps: rs426938
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:

opentargets:
chromosome [GO:0005694]; intracellular membrane-bounded organelle [GO:0043231]; nuclear membrane [GO:0031965]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; C2H2 zinc finger domain binding [GO:0070742]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein N-terminus binding [GO:0047485]; negative regulation of transcription, DNA-templated [GO:0045892]


uniprotID: Q8NA92
geneSymbol: THAP8
name: THAP domain-containing protein 8
length: 274
go: ENSG00000161277;
snps: rs3810449 rs3810450 rs34250145 rs10421966 rs10420353
sequence:

opentargets:
DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]


uniprotID: Q9H5L6
geneSymbol: THAP9
name: DNA transposase THAP9 (EC 2.7.7.-) (THAP domain-containing protein 9) (hTh9)
length: 903
go: ENSG00000168152;
snps: rs1031639 rs897945 rs6535411 rs35532215
sequence:

opentargets:
DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; transferase activity [GO:0016740]; transposase activity [GO:0004803]; DNA integration [GO:0015074]; DNA recombination [GO:0006310]; transposition, DNA-mediated [GO:0006313]


uniprotID: P24557
geneSymbol: TBXAS1
reactome: R-HSA-211979;R-HSA-2162123;R-HSA-5579032;
name: Thromboxane-A synthase (TXA synthase) (TXS) (EC 5.3.99.5) (Cytochrome P450 5A1)
length: 533
go: ENSG00000059377;
drug: DB03052;DB05505;DB01207;DB00795;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 12-hydroxyheptadecatrienoic acid synthase activity [GO:0036134]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [GO:0016705]; thromboxane-A synthase activity [GO:0004796]; cyclooxygenase pathway [GO:0019371]; icosanoid metabolic process [GO:0006690]

snps:
rs6138 rs13306050 rs4529 rs140005285 rs8192833 rs5768 rs6137 rs55856189 rs5769 rs5770 rs5771 rs6140 rs4529 rs4529 rs3735354 rs3735354 rs5760 rs199422117 rs4528 rs5762 rs4526 rs8192868 rs5763 rs41311778 rs199422116 rs199422114 rs8192864 rs13306050 rs13306050 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P24557-1; Sequence=Displayed; Name=2; IsoId=P24557-2; Sequence=VSP_047217; Note=No experimental confirmation available.; Name=3; IsoId=P24557-3; Sequence=VSP_054121; Name=4; IsoId=P24557-4; Sequence=VSP_054122, VSP_054123; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:8366093}; Multi-pass membrane protein {ECO:0000269|PubMed:8366093}.


uniprotID: P10827
geneSymbol: THRA
reactome: R-HSA-383280;R-HSA-4090294;
pdb: 1NAV;2H77;2H79;3HZF;3ILZ;3JZB;4LNW;4LNX;
length: 490
go: ENSG00000126351;
drug: DB00509;DB05035;DB00451;DB00279;DB01583;DB05235;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Thyroid hormone receptor alpha (Nuclear receptor subfamily 1 group A member 1) (V-erbA-related protein 7) (EAR-7) (c-erbA-1) (c-erbA-alpha)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor transcription coactivator activity [GO:0030374]; protein domain specific binding [GO:0019904]; protein-containing complex binding [GO:0044877]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; TBP-class protein binding [GO:0017025]; thyroid hormone binding [GO:0070324]; thyroid hormone receptor activity [GO:0004887]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; animal organ morphogenesis [GO:0009887]; brain development [GO:0007420]; cartilage condensation [GO:0001502]; cell differentiation [GO:0030154]; erythrocyte differentiation [GO:0030218]; female courtship behavior [GO:0008050]; hormone-mediated signaling pathway [GO:0009755]; learning or memory [GO:0007611]; multicellular organism development [GO:0007275]; negative regulation of DNA-templated transcription, initiation [GO:2000143]; negative regulation of RNA polymerase II transcriptional preinitiation complex assembly [GO:0017055]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; ossification [GO:0001503]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of female receptivity [GO:0045925]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of heart contraction [GO:0008016]; regulation of lipid catabolic process [GO:0050994]; regulation of myeloid cell apoptotic process [GO:0033032]; regulation of thyroid hormone mediated signaling pathway [GO:0002155]; regulation of transcription by RNA polymerase II [GO:0006357]; response to cold [GO:0009409]; response to lipid [GO:0033993]; thyroid gland development [GO:0030878]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]; type I pneumocyte differentiation [GO:0060509]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Alpha-2; IsoId=P10827-1; Sequence=Displayed; Name=Alpha-1; IsoId=P10827-2; Sequence=VSP_003621; Name=Alpha-3; IsoId=P10827-3; Sequence=VSP_003622; Name=Alpha-4; Synonyms=Alpha3; IsoId=P10827-4; Sequence=VSP_003623; 


uniprotID: P05543
geneSymbol: SERPINA7
pdb: 2CEO;2RIV;2RIW;2XN3;2XN5;2XN6;2XN7;4X30;4YIA;
name: Thyroxine-binding globulin (Serpin A7) (T4-binding globulin)
length: 415
go: ENSG00000123561;
drug: DB00451;DB00279;DB01583;DB05235;
snps: rs72554662 rs28933689 rs28933688 rs1050086 rs2234036 rs28937312 rs1804495 rs72554659 rs72554658
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; serine-type endopeptidase inhibitor activity [GO:0004867]; negative regulation of endopeptidase activity [GO:0010951]; thyroid hormone transport [GO:0070327]


uniprotID: P82932
geneSymbol: MRPS6
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 125
go: ENSG00000243927;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S6, mitochondrial (MRP-S6) (S6mt) (Mitochondrial small ribosomal subunit protein bS6m)

sequence:
MPRYELALILKAMQRPETAATLKRTIEALMDRGAIVRDLENLGERALPYRISAHSQQHNRGGYFLVDFYAPTAAVESMVEHLSRDIDVIRGNIVKHPLTQELKECEGIVPVPLAEKLYSTKKRKK

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial small ribosomal subunit [GO:0005763]; small ribosomal subunit [GO:0015935]; small ribosomal subunit rRNA binding [GO:0070181]; structural constituent of ribosome [GO:0003735]; mitochondrial translation [GO:0032543]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]


uniprotID: P82933
geneSymbol: MRPS9
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 396
go: ENSG00000135972;
snps: rs13399067
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S9, mitochondrial (MRP-S9) (S9mt) (Mitochondrial small ribosomal subunit protein uS9m)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial small ribosomal subunit [GO:0005763]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; DNA damage response, detection of DNA damage [GO:0042769]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]


uniprotID: O15235
geneSymbol: MRPS12
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 138
go: ENSG00000128626;
snps: rs33988199
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S12, mitochondrial (MRP-S12) (S12mt) (MT-RPS12) (Mitochondrial small ribosomal subunit protein uS12m)

sequence:
MSWSGLLHGLNTSLTCGPALVPRLWATCSMATLNQMHRLGPPKRPPRKLGPTEGRPQLKGVVLCTFTRKPKKPNSANRKCCRVRLSTGREAVCFIPGEGHTLQEHQIVLVEGGRTQDLPGVKLTVVRGKYDCGHVQKK

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial ribosome [GO:0005761]; mitochondrial small ribosomal subunit [GO:0005763]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; mitochondrial translation [GO:0032543]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]


uniprotID: Q9Y3D3
geneSymbol: MRPS16
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 137
go: ENSG00000182180;
snps: rs7905009
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S16, mitochondrial (MRP-S16) (S16mt) (Mitochondrial small ribosomal subunit protein bS16m)

sequence:
MVHLTTLLCKAYRGGHLTIRLALGGCTNRPFYRIVAAHNKCPRDGRFVEQLGSYDPLPNSHGEKLVALNLDRIRHWIGCGAHLSKPMEKLLGLAGFFPLHPMMITNAERLRRKRAREVLLASQKTDAEATDTEATET

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial small ribosomal subunit [GO:0005763]; mitochondrion [GO:0005739]; structural constituent of ribosome [GO:0003735]; mitochondrial translation [GO:0032543]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y3D3-1; Sequence=Displayed; Name=2; IsoId=Q9Y3D3-2; Sequence=VSP_056498; Note=No experimental confirmation available.; 


uniprotID: P82921
geneSymbol: MRPS21
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
sequence: MAKHLKFIARTVMVQEGNVESAYRTLNRILTMDGLIEDIKHRRYYEKPCCRRQRESYERCRRIYNMEMARKINFLMRKNRADPWQGC
length: 87
go: ENSG00000266472;
snps: rs10480 rs4845
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S21, mitochondrial (MRP-S21) (S21mt) (Mitochondrial small ribosomal subunit protein bS21m)

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


uniprotID: Q9Y291
geneSymbol: MRPS33
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 106
go: ENSG00000090263;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11279123}.
name:
28S ribosomal protein S33, mitochondrial (MRP-S33) (S33mt) (Mitochondrial small ribosomal subunit protein mS33)

sequence:
MSSLSEYAFRMSRLSARLFGEVTRPTNSKSMKVVKLFSELPLAKKKETYDWYPNHHTYAELMQTLRFLGLYRDEHQDFMDEQKRLKKLRGKEKPKKGEGKRAAKRK

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


uniprotID: Q96EL2
geneSymbol: MRPS24
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 167
go: ENSG00000062582;
snps: rs670573
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S24, mitochondrial (MRP-S24) (S24mt) (Mitochondrial small ribosomal subunit protein uS3m) (bMRP-47) (bMRP47)

sequence:
MAASVCSGLLGPRVLSWSRELPCAWRALHTSPVCAKNRAARVRVSKGDKPVTYEEAHAPHYIAHRKGWLSLHTGNLDGEDHAAERTVEDVFLRKFMWGTFPGCLADQLVLKRRGNQLEICAVVLRQLSPHKYYFLVGYSETLLSYFYKCPVRLHLQTVPSKVVYKYL

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


uniprotID: Q9Y2Q9
geneSymbol: MRPS28
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 187
snps: rs16919579
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
name:
28S ribosomal protein S28, mitochondrial (MRP-S28) (S28mt) (28S ribosomal protein S35, mitochondrial) (MRP-S35) (S35mt) (Mitochondrial small ribosomal subunit protein bS1m)

sequence:
MAALCRTRAVAAESHFLRVFLFFRPFRGVGTESGSESGSSNAKEPKTRAGGFASALERHSELLQKVEPLQKGSPKNVESFASMLRHSPLTQMGPAKDKLVIGRIFHIVENDLYIDFGGKFHCVCRRPEVDGEKYQKGTRVRLRLLDLELTSRFLGATTDTTVLEANAVLLGIQESKDSRSKEEHHEK

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial small ribosomal subunit [GO:0005763]; mitochondrion [GO:0005739]; RNA binding [GO:0003723]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]


uniprotID: P51398
geneSymbol: DAP3
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 398
go: ENSG00000132676;
snps: rs57692591
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11162496, ECO:0000269|PubMed:20563667}.
name:
28S ribosomal protein S29, mitochondrial (MRP-S29) (S29mt) (Death-associated protein 3) (DAP-3) (Ionizing radiation resistance conferring protein) (Mitochondrial small ribosomal subunit protein mS29)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial small ribosomal subunit [GO:0005763]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; GTP binding [GO:0005525]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; apoptotic signaling pathway [GO:0097190]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P51398-1; Sequence=Displayed; Name=2; IsoId=P51398-2; Sequence=VSP_042790; Name=3; IsoId=P51398-3; Sequence=VSP_044639; Note=No experimental confirmation available.; 


uniprotID: Q9BSG5
geneSymbol: RTBDN
name: Retbindin
length: 229
go: ENSG00000132026;
snps: rs13628
sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; interphotoreceptor matrix [GO:0033165]; riboflavin binding [GO:1902444]; riboflavin transmembrane transporter activity [GO:0032217]; signaling receptor activity [GO:0038023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BSG5-1; Sequence=Displayed; Name=2; IsoId=Q9BSG5-2; Sequence=VSP_037666; Name=3; IsoId=Q9BSG5-3; Sequence=VSP_046903; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix {ECO:0000250|UniProtKB:Q8QZY4}. Cell membrane; Peripheral membrane protein {ECO:0000250|UniProtKB:Q8QZY4}.


uniprotID: A6ZKI3
geneSymbol: RTL8C
name: Retrotransposon Gag-like protein 8B (Mammalian retrotransposon derived protein 8C)
length: 113
go: ENSG00000134590;
snps: rs1056977
sequence:
MDGRVQLIKALLALPIRPATRRWRNPIPFPETFDGDTDRLPEFIVQTGSYMFVDENTFSSDALKVTFLITRLTGPALQWVIPYIKKESPLLNDYRGFLAEMKRVFGWEEDEDF


uniprotID: O75298
geneSymbol: RTN2
length: 545
go: ENSG00000125744;
snps: rs140494585 rs35461805
name:
Reticulon-2 (Neuroendocrine-specific protein-like 1) (NSP-like protein 1) (Neuroendocrine-specific protein-like I) (NSP-like protein I) (NSPLI)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of endoplasmic reticulum membrane [GO:0030176]; T-tubule [GO:0030315]; terminal cisterna [GO:0014802]; intracellular protein transmembrane transport [GO:0065002]; regulation of glucose import [GO:0046324]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=RTN2-A; IsoId=O75298-1; Sequence=Displayed; Name=RTN2-B; IsoId=O75298-2; Sequence=VSP_005649; Name=RTN2-C; IsoId=O75298-3; Sequence=VSP_018870; Note=Produced by alternative initiation at Met-341 of isoform RTN2-A.; 


uniprotID: O95197
geneSymbol: RTN3
reactome: R-HSA-8849932;
length: 1032
go: ENSG00000133318;
snps: rs11551944 rs7936660
name:
Reticulon-3 (Homolog of ASY protein) (HAP) (Neuroendocrine-specific protein-like 2) (NSP-like protein 2) (Neuroendocrine-specific protein-like II) (NSP-like protein II) (NSPLII)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; synapse [GO:0045202]; apoptotic process [GO:0006915]; endoplasmic reticulum tubular network formation [GO:0071787]; endoplasmic reticulum tubular network organization [GO:0071786]; vesicle-mediated transport [GO:0016192]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=A1, A4b; IsoId=O95197-1; Sequence=Displayed; Name=2; Synonyms=A2, A3b; IsoId=O95197-2; Sequence=VSP_023759; Name=3; Synonyms=B1, A1; IsoId=O95197-3; Sequence=VSP_023759, VSP_023760; Name=4; Synonyms=B2, A2; IsoId=O95197-4; Sequence=VSP_023760; Name=5; IsoId=O95197-5; Sequence=VSP_023759, VSP_023760, VSP_023761; Note=No experimental confirmation available.; Name=6; IsoId=O95197-6; Sequence=VSP_045319, VSP_045320; Name=7; IsoId=O95197-7; Sequence=VSP_047008; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12811824, ECO:0000269|PubMed:15286784, ECO:0000269|PubMed:16054885, ECO:0000269|PubMed:16979658, ECO:0000269|PubMed:17031492, ECO:0000269|PubMed:17182608, ECO:0000269|PubMed:17191123, ECO:0000269|PubMed:24262037, ECO:0000269|PubMed:29117567}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:15286784, ECO:0000269|PubMed:16054885, ECO:0000269|PubMed:16979658, ECO:0000269|PubMed:29117567}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q8IZC4
geneSymbol: RTKN2
length: 609
go: ENSG00000182010;
snps: rs3765004 rs3125734
name:
Rhotekin-2 (Pleckstrin homology domain-containing family K member 1) (PH domain-containing family K member 1)

sequence:

opentargets:
hemopoiesis [GO:0030097]; positive regulation of cell proliferation [GO:0008284]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IZC4-1; Sequence=Displayed; Name=2; IsoId=Q8IZC4-2; Sequence=VSP_029137, VSP_029138, VSP_029139; Note=No experimental confirmation available.; Name=3; IsoId=Q8IZC4-3; Sequence=VSP_029135, VSP_029136; Note=No experimental confirmation available.; 


uniprotID: A6NKG5
geneSymbol: RTL1
length: 1358
go: ENSG00000254656;
opentargets: integral component of membrane [GO:0016021]; multicellular organism development [GO:0007275]
snps: rs11623267
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Retrotransposon-like protein 1 (Mammalian retrotransposon derived protein 1) (Paternally expressed gene 11 protein) (Retrotransposon-derived protein PEG11)

sequence:


uniprotID: Q9UMX1
geneSymbol: SUFU
reactome: R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5610787;R-HSA-5632684;
pdb: 1M1L;4BL8;4BL9;4BLA;4BLB;4BLD;4KM8;4KM9;4KMD;4KMH;
name: Suppressor of fused homolog (SUFUH)
length: 484
go: ENSG00000107882;
snps: rs28942088 rs745793517 rs149016373 rs574002050 rs34135067 rs772598739
sequence:

opentargets:
ciliary base [GO:0097546]; ciliary tip [GO:0097542]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; beta-catenin binding [GO:0008013]; protein kinase binding [GO:0019901]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; aorta development [GO:0035904]; coronary vasculature development [GO:0060976]; cytoplasmic sequestering of transcription factor [GO:0042994]; heart looping [GO:0001947]; multicellular organism development [GO:0007275]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of protein import into nucleus [GO:0042308]; negative regulation of smoothened signaling pathway [GO:0045879]; negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:1901621]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of ubiquitin-dependent protein catabolic process [GO:2000059]; neural tube closure [GO:0001843]; proteolysis [GO:0006508]; regulation of transcription, DNA-templated [GO:0006355]; signal transduction [GO:0007165]; skeletal system development [GO:0001501]; skin development [GO:0043588]; smoothened signaling pathway involved in spinal cord motor neuron cell fate specification [GO:0021776]; smoothened signaling pathway involved in ventral spinal cord interneuron specification [GO:0021775]; ventricular septum development [GO:0003281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Su(fu)484; IsoId=Q9UMX1-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=Su(fu)433; IsoId=Q9UMX1-2; Sequence=VSP_013278, VSP_013279; Name=3; IsoId=Q9UMX1-3; Sequence=VSP_013280; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10559945, ECO:0000269|PubMed:28965847}. Nucleus {ECO:0000269|PubMed:10559945, ECO:0000269|PubMed:28965847}.


uniprotID: Q13277
geneSymbol: STX3
reactome: R-HSA-449836;
name: Syntaxin-3
length: 289
go: ENSG00000166900;
snps: rs12282741 rs34563654 rs34753750
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; azurophil granule [GO:0042582]; cell-cell junction [GO:0005911]; dendrite [GO:0030425]; endomembrane system [GO:0012505]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; integral component of membrane [GO:0016021]; lamellipodium [GO:0030027]; melanosome [GO:0042470]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; presynaptic active zone membrane [GO:0048787]; presynaptic membrane [GO:0042734]; Schaffer collateral - CA1 synapse [GO:0098685]; SNARE complex [GO:0031201]; specific granule [GO:0042581]; synaptic vesicle [GO:0008021]; vacuole [GO:0005773]; zymogen granule membrane [GO:0042589]; arachidonic acid binding [GO:0050544]; SNAP receptor activity [GO:0005484]; SNARE binding [GO:0000149]; cytokine-mediated signaling pathway [GO:0019221]; exocytic insertion of neurotransmitter receptor to postsynaptic membrane [GO:0098967]; exocytosis [GO:0006887]; intracellular protein transport [GO:0006886]; long-term synaptic potentiation [GO:0060291]; neuron projection development [GO:0031175]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chemotaxis [GO:0050921]; positive regulation of protein localization to cell surface [GO:2000010]; positive regulation of protein localization to plasma membrane [GO:1903078]; synaptic vesicle docking [GO:0016081]; synaptic vesicle fusion to presynaptic active zone membrane [GO:0031629]; vesicle docking [GO:0048278]; vesicle fusion [GO:0006906]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=Q13277-1; Sequence=Displayed; Name=B; IsoId=Q13277-2; Sequence=VSP_006340; Name=3; IsoId=Q13277-3; Sequence=VSP_043187; Note=No experimental confirmation available.; 


uniprotID: O95425
geneSymbol: SVIL
pdb: 2K6M;2K6N;
name: Supervillin (Archvillin) (p205/p250)
length: 2214
go: ENSG00000197321;
snps: rs10160013 rs1247696 rs7070135 rs2368406 rs11007612 rs7921306 rs17694739
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cleavage furrow [GO:0032154]; costamere [GO:0043034]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; invadopodium [GO:0071437]; microtubule minus-end [GO:0036449]; midbody [GO:0030496]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; podosome [GO:0002102]; actin filament binding [GO:0051015]; cytoskeleton organization [GO:0007010]; positive regulation of cytokinesis [GO:0032467]; skeletal muscle tissue development [GO:0007519]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Archvillin {ECO:0000303|PubMed:12711699}, p250 {ECO:0000303|PubMed:12711699}, SV2; IsoId=O95425-1; Sequence=Displayed; Name=2; Synonyms=Supervillin {ECO:0000303|PubMed:9867483}, p205 {ECO:0000303|PubMed:9867483}, SV1; IsoId=O95425-2; Sequence=VSP_012425, VSP_012426; Name=SV3; IsoId=O95425-3; Sequence=VSP_053768; Name=SV4; IsoId=O95425-4; Sequence=VSP_012426; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell projection, invadopodium. Cell projection, podosome. Midbody {ECO:0000250|UniProtKB:O46385}. Cleavage furrow {ECO:0000250|UniProtKB:O46385}. Note=Tightly associated with both actin filaments and plasma membranes.


uniprotID: Q9BRV3
geneSymbol: SLC50A1
reactome: R-HSA-189200;
length: 221
go: ENSG00000169241;
name:
Sugar transporter SWEET1 (HsSWEET1) (RAG1-activating protein 1) (Solute carrier family 50 member 1) (Stromal cell protein)

sequence:

opentargets:
endomembrane system [GO:0012505]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; glucoside transmembrane transporter activity [GO:0042947]; sugar transmembrane transporter activity [GO:0051119]; hexose transmembrane transport [GO:0008645]; positive regulation of gene expression, epigenetic [GO:0045815]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BRV3-1; Sequence=Displayed; Name=2; IsoId=Q9BRV3-2; Sequence=VSP_034916, VSP_034917; Name=3; IsoId=Q9BRV3-3; Sequence=VSP_034918; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:21107422}; Multi-pass membrane protein {ECO:0000269|PubMed:21107422}. Cell membrane {ECO:0000269|PubMed:21107422}; Multi-pass membrane protein {ECO:0000269|PubMed:21107422}. Note=May also localize to the endoplasmic reticulum. {ECO:0000250}.


uniprotID: Q8IXB3
geneSymbol: TRARG1
length: 177
go: ENSG00000184811;
snps: rs75616699 rs111587833 rs111701043 rs6502774 rs75025906 rs6502776
name:
Trafficking regulator of GLUT4 1 (Dispanin subfamily B member 1) (DSPB1) (Interferon-induced transmembrane domain-containing protein D3) (Protein located at seventeen-p-thirteen point three 1) (Tumor suppressor candidate 5)

sequence:
MAHPVQSEFPSAQEPGSAAFLDLPEMEILLTKAENKDDKTLNLSKTLSGPLDLEQNSQGLPFKAISEGHLEAPLPRSPSRASSRRASSIATTSYAQDQEAPRDYLILAVVACFCPVWPLNLIPLIISIMSRSSMQQGNVDGARRLGRLARLLSITLIIMGIVIIMVAVTVNFTVQKK

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; endomembrane system [GO:0012505]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; cellular response to insulin stimulus [GO:0032869]; endosome to plasma membrane protein transport [GO:0099638]; glucose import in response to insulin stimulus [GO:0044381]; plasma membrane fusion [GO:0045026]; protein localization to plasma membrane [GO:0072659]; vesicle fusion to plasma membrane [GO:0099500]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8C838}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8C838}. Endomembrane system {ECO:0000250|UniProtKB:Q8C838}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8C838}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q8C838}. Note=Shifts from low-density microsome vesicles to the cell membrane upon insulin stimulation. {ECO:0000250|UniProtKB:Q8C838}.


uniprotID: Q8N4V2
geneSymbol: SVOP
name: Synaptic vesicle 2-related protein (SV2-related protein)
length: 548
go: ENSG00000166111;
sequence:

opentargets:
cell junction [GO:0030054]; integral component of membrane [GO:0016021]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; transmembrane transporter activity [GO:0022857]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q58G82
geneSymbol: SYT14P1
length: 188
snps: rs3819257
name:
Putative synaptotagmin-14-like protein (Synaptotagmin XIV protein pseudogene 1) (Synaptotagmin XIV-derived protein) (Synaptotagmin XIV-like protein)

sequence:
MLEGFQILVQNTVQGTIHKIKCVCDSQMSVSEMSCSESTSACQSLEDGSVPEILISLLYNATNGRLSAEVIKGSHLKNWAANRPPNTYVKLTLRKSTDQEMSKCKISIRRGRPNPVYKETFVFKVTLFQLSHVTLMLSVYNKSSMRRKMIGWIYLGLNSSGEELNHWTEMKESKGRQVRRWQALLESR

opentargets:
positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of dendrite extension [GO:1903861]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]


uniprotID: Q5JTZ9
geneSymbol: AARS2
reactome: R-HSA-379726;
name: Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (Alanyl-tRNA synthetase) (AlaRS)
length: 985
go: ENSG00000124608;
drug: DB00160;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03133, ECO:0000269|PubMed:21549344}.
sequence:

opentargets:
mitochondrion [GO:0005739]; alanine-tRNA ligase activity [GO:0004813]; amino acid binding [GO:0016597]; ATP binding [GO:0005524]; tRNA binding [GO:0000049]; zinc ion binding [GO:0008270]; alanyl-tRNA aminoacylation [GO:0006419]; mitochondrial alanyl-tRNA aminoacylation [GO:0070143]; mitochondrial respiratory chain complex assembly [GO:0033108]; tRNA modification [GO:0006400]

snps:
rs587777590 rs375949891 rs387907061 rs200105202 rs324136 rs587777592 rs495294 rs138119149 rs35623954 rs35783144 rs543267101 


uniprotID: Q7Z7G0
geneSymbol: ABI3BP
length: 1075
go: ENSG00000154175;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Target of Nesh-SH3 (Tarsh) (ABI gene family member 3-binding protein) (Nesh-binding protein) (NeshBP)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; interstitial matrix [GO:0005614]; collagen binding [GO:0005518]; extracellular matrix structural constituent [GO:0005201]; heparin binding [GO:0008201]; extracellular matrix organization [GO:0030198]; positive regulation of cell-substrate adhesion [GO:0010811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7Z7G0-1; Sequence=Displayed; Name=2; IsoId=Q7Z7G0-2; Sequence=VSP_010860, VSP_010861; Name=3; IsoId=Q7Z7G0-3; Sequence=VSP_010862, VSP_010863, VSP_010864, VSP_010861; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z7G0-4; Sequence=VSP_010862, VSP_010865, VSP_010861; Note=No experimental confirmation available.; 


uniprotID: P22105
geneSymbol: TNXB
reactome: R-HSA-3000178;
pdb: 2CUH;2CUI;2CUM;
name: Tenascin-X (TN-X) (Hexabrachion-like protein)
length: 4244
go: ENSG00000168477;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; collagen fibril binding [GO:0098633]; extracellular matrix structural constituent [GO:0005201]; heparin binding [GO:0008201]; integrin binding [GO:0005178]; actin cytoskeleton organization [GO:0030036]; cell adhesion [GO:0007155]; collagen fibril organization [GO:0030199]; collagen metabolic process [GO:0032963]; elastic fiber assembly [GO:0048251]

snps:
rs1150752 rs204896 rs17201609 rs17201602 rs204900 rs185819 rs17207923 rs2269428 rs2269428 rs12524664 rs2269429 rs1009382 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; IsoId=P22105-3; Sequence=Displayed; Note=No experimental confirmation available. May be due to competing acceptor splice site in exon 24.; Name=3; IsoId=P22105-1; Sequence=VSP_059794; Note=No experimental confirmation available.; Name=XB-short; Synonyms=2; IsoId=P22105-2; Sequence=VSP_059792; Name=5; IsoId=P22105-4; Sequence=VSP_059793, VSP_059794; Note=No experimental confirmation available. May be due to competing donor splice site in exon 1.; 


uniprotID: Q6URK8
geneSymbol: TEPP
name: Testis, prostate and placenta-expressed protein
length: 271
go: ENSG00000159648;
opentargets: extracellular region [GO:0005576]
snps: rs9934227
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6URK8-1; Sequence=Displayed; Name=2; IsoId=Q6URK8-2; Sequence=VSP_032403; 


uniprotID: Q8NA31
geneSymbol: TERB1
pdb: 5WIR;5XUP;
name: Telomere repeats-binding bouquet formation protein 1 (Coiled-coil domain-containing protein 79)
length: 727
go: ENSG00000249961;
sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; nuclear chromosome, telomeric region [GO:0000784]; nuclear inner membrane [GO:0005637]; shelterin complex [GO:0070187]; DNA binding [GO:0003677]; meiotic attachment of telomere to nuclear envelope [GO:0070197]; meiotic telomere clustering [GO:0045141]; synapsis [GO:0007129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NA31-1; Sequence=Displayed; Name=2; IsoId=Q8NA31-2; Sequence=VSP_031614, VSP_031615; Name=3; IsoId=Q8NA31-3; Sequence=VSP_031613, VSP_031614, VSP_031615; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Chromosome, telomere {ECO:0000250|UniProtKB:Q8C0V1}. Nucleus inner membrane {ECO:0000250|UniProtKB:Q8C0V1}. Note=Localizes to telomeres during meiotic prophase. In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane. {ECO:0000250|UniProtKB:Q8C0V1}.


uniprotID: Q8NHR7
geneSymbol: TERB2
name: Telomere repeats-binding bouquet formation protein 2
length: 220
go: ENSG00000167014;
snps: rs11638723
sequence:

opentargets:
nuclear chromosome, telomeric region [GO:0000784]; nuclear inner membrane [GO:0005637]; meiotic attachment of telomere to nuclear envelope [GO:0070197]; meiotic telomere clustering [GO:0045141]; synapsis [GO:0007129]

location:
SUBCELLULAR LOCATION: Chromosome, telomere {ECO:0000250|UniProtKB:Q9D494}. Nucleus inner membrane {ECO:0000250|UniProtKB:Q9D494}. Note=Localizes to telomeres throughout meiotic prophase I and disapears in metaphase I. In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane. {ECO:0000250|UniProtKB:Q9D494}.


uniprotID: Q9Y6M0
geneSymbol: PRSS21
reactome: R-HSA-163125;
name: Testisin (EC 3.4.21.-) (Eosinophil serine protease 1) (ESP-1) (Serine protease 21)
length: 314
go: ENSG00000007038;
snps: rs2072273
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; plasma membrane [GO:0005886]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; proteolysis [GO:0006508]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=L; IsoId=Q9Y6M0-1; Sequence=Displayed; Name=2; Synonyms=S; IsoId=Q9Y6M0-2; Sequence=VSP_005389; Name=3; IsoId=Q9Y6M0-3; Sequence=VSP_005390; 


uniprotID: Q9UGI8
geneSymbol: TES
pdb: 2IYB;2XQN;
name: Testin (TESS)
length: 421
go: ENSG00000135269;
snps: rs2272193
sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; cadherin binding [GO:0045296]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; negative regulation of cell proliferation [GO:0008285]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGI8-1; Sequence=Displayed; Name=2; IsoId=Q9UGI8-2; Sequence=VSP_003122; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell junction, focal adhesion. Note=Detected along actin stress fibers.


uniprotID: Q8NFU7
geneSymbol: TET1
reactome: R-HSA-5221030;
pdb: 6ASD;
length: 2136
go: ENSG00000138336;
snps: rs10823229 rs12773594 rs12221107 rs16925541 rs3998860
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Methylcytosine dioxygenase TET1 (EC 1.14.11.n2) (CXXC-type zinc finger protein 6) (Leukemia-associated protein with a CXXC domain) (Ten-eleven translocation 1 gene protein)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; iron ion binding [GO:0005506]; methylcytosine dioxygenase activity [GO:0070579]; zinc ion binding [GO:0008270]; 5-methylcytosine catabolic process [GO:0006211]; chromatin organization [GO:0006325]; DNA demethylation [GO:0080111]; inner cell mass cell differentiation [GO:0001826]; negative regulation of methylation-dependent chromatin silencing [GO:0090310]; positive regulation of cell proliferation [GO:0008284]; positive regulation of histone methylation [GO:0031062]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein O-linked glycosylation [GO:0006493]; stem cell population maintenance [GO:0019827]


uniprotID: Q9NXF1
geneSymbol: TEX10
reactome: R-HSA-6791226;
name: Testis-expressed protein 10
length: 929
go: ENSG00000136891;
sequence:

opentargets:
cytoplasm [GO:0005737]; MLL1 complex [GO:0071339]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; Rix1 complex [GO:0097344]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXF1-1; Sequence=Displayed; Name=2; IsoId=Q9NXF1-2; Sequence=VSP_043704, VSP_043705; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000250|UniProtKB:Q3URQ0}. Cytoplasm {ECO:0000250|UniProtKB:Q3URQ0}. Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:21326211}. Note=Mainly found in the nucleoplasm, with low levels detected in the cytoplasmic and chromatin fractions. {ECO:0000250|UniProtKB:Q3URQ0}.


uniprotID: Q8IYF3
geneSymbol: TEX11
name: Testis-expressed protein 11
length: 940
go: ENSG00000120498;
snps: rs6525433 rs143246552 rs4844247 rs140984555
sequence:

opentargets:
central element [GO:0000801]; chiasma assembly [GO:0051026]; fertilization [GO:0009566]; male gonad development [GO:0008584]; male meiosis chromosome segregation [GO:0007060]; meiotic gene conversion [GO:0006311]; negative regulation of apoptotic process [GO:0043066]; reciprocal meiotic recombination [GO:0007131]; resolution of meiotic recombination intermediates [GO:0000712]; synaptonemal complex assembly [GO:0007130]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IYF3-1; Sequence=Displayed; Name=2; IsoId=Q8IYF3-2; Sequence=VSP_027260; Note=No experimental confirmation available.; Name=3; IsoId=Q8IYF3-3; Sequence=VSP_027261; 

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q14AT2}. Note=Forms arrays of discrete foci along synaptonemal complexes in spermatocytes and fetal oocytes. {ECO:0000250|UniProtKB:Q14AT2}.


uniprotID: Q9BXU0
geneSymbol: TEX12
reactome: R-HSA-1221632;
name: Testis-expressed protein 12
length: 123
go: ENSG00000150783;
sequence:
MMANHLVKPDNRNCKRPRELESPVPDSPQLSSLGKSDSSFSEISGLFYKDEALEKDLNDVSKEINLMLSTYAKLLSERAAVDASYIDEIDELFKEANAIENFLIQKREFLRQRFTVIANTLHR

opentargets:
central element [GO:0000801]; meiotic DNA repair synthesis [GO:0000711]; synaptonemal complex assembly [GO:0007130]


uniprotID: Q8IWB6
geneSymbol: TEX14
pdb: 3WUT;3WUU;
length: 1497
go: ENSG00000121101;
snps: rs56292204
name:
Inactive serine/threonine-protein kinase TEX14 (Protein kinase-like protein SgK307) (Sugen kinase 307) (Testis-expressed sequence 14) (Testis-expressed sequence 14 protein)

sequence:

opentargets:
cell [GO:0005623]; condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; intercellular bridge [GO:0045171]; kinetochore [GO:0000776]; midbody [GO:0030496]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; attachment of spindle microtubules to kinetochore [GO:0008608]; cell division [GO:0051301]; cellular response to leukemia inhibitory factor [GO:1990830]; intercellular bridge organization [GO:0043063]; male meiotic nuclear division [GO:0007140]; mitotic sister chromatid separation [GO:0051306]; mitotic spindle assembly checkpoint [GO:0007094]; negative regulation of cytokinesis [GO:0032466]; negative regulation of protein binding [GO:0032091]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IWB6-1; Sequence=Displayed; Name=2; IsoId=Q8IWB6-2; Sequence=VSP_019868; Name=3; IsoId=Q8IWB6-3; Sequence=VSP_019868, VSP_019869; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Midbody {ECO:0000250}. Chromosome, centromere, kinetochore {ECO:0000250}. Note=Detected in the intercellular bridges that connect male germ cell daughter cells after cell division. {ECO:0000250}.


uniprotID: Q9BXT5
geneSymbol: TEX15
reactome: R-HSA-912446;
name: Testis-expressed protein 15 (Cancer/testis antigen 42) (CT42)
length: 2789
go: ENSG00000133863;
snps: rs323347 rs9297162 rs864309485 rs323346 rs323345 rs323344 rs323343 rs60474250 rs763654373
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cell differentiation [GO:0030154]; DNA repair [GO:0006281]; male meiotic nuclear division [GO:0007140]; regulation of double-strand break repair via homologous recombination [GO:0010569]; spermatogenesis [GO:0007283]; synapsis [GO:0007129]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:F8VPN2}. Nucleus {ECO:0000250|UniProtKB:F8VPN2}.


uniprotID: Q8NA77
geneSymbol: TEX19
name: Testis-expressed protein 19
length: 164
go: ENSG00000182459;
sequence:
MCPPVSMRYEEEGMSYLYASWMYQLQHGDQLSICFTCFKAAFLDFKDLLESEDWEEDNWDPELMEHTEAESEQEGSSGMELSWGQSPGQPVQGGSEAWGPGTLAAAPEGLEDAGLDPHFVPTELWPQEAVPLGLGLEDADWTQGLPWRFEELLTCSHWPSFFPS

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; piRNA binding [GO:0034584]; cell differentiation [GO:0030154]; male gonad development [GO:0008584]; male meiotic nuclear division [GO:0007140]; negative regulation of transposition [GO:0010529]; placenta development [GO:0001890]; reciprocal meiotic recombination [GO:0007131]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q99MV2}. Note=Was initially reported to localize in the nucleus. However, it was later shown to localize in cytoplasm only. Cytoplasmic localization is distinct from the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. {ECO:0000250|UniProtKB:Q99MV2}.


uniprotID: C9J3V5
geneSymbol: TEX22
name: Testis-expressed protein 22
length: 150
go: ENSG00000226174;
opentargets: acrosomal vesicle [GO:0001669]
sequence:
MDSRKLSPRGKKLESHLSQEHRRPPLGLIAAWGQPSIQSSVQQGLQTQDWVCEPPERRRPGRRWSVSIDERRRLATLGGRERPGAAGTQLHCRDVVQMVAQLVSEDVDKDVLLPHPLRSTESTNAFQAFLARSAPFWHNATFEASRSPPS

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250}.


uniprotID: Q8N6G2
geneSymbol: TEX26
name: Testis-expressed protein 26
length: 289
go: ENSG00000175664;
opentargets: cytoplasm [GO:0005737]
snps: rs9533168
sequence:


uniprotID: O15482
geneSymbol: TEX28; TEX28P1; TEX28P2
name: Testis-specific protein TEX28
length: 410
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8N6K0
geneSymbol: TEX29
name: Testis-expressed protein 29
length: 151
go: ENSG00000153495;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MEYVLEVKNSPRHLLKQFTVCDVPLYDICDYNVSRDRCQELGCCFYEGVCYKKAVPIYIHVFSALIVIIAGAFVITIIYRVIQESRKEKAIPVDVALPQKSSEKAELASSSSKLGLKPASPGPPSAGPSMKSDEDKDDVTGTITEAEETED


uniprotID: Q8IWB9
geneSymbol: TEX2
name: Testis-expressed protein 2 (Transmembrane protein 96)
length: 1127
go: ENSG00000136478;
snps: rs28605685
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; lipid binding [GO:0008289]; lipid transport [GO:0006869]; signal transduction [GO:0007165]; sphingolipid metabolic process [GO:0006665]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IWB9-1; Sequence=Displayed; Name=2; IsoId=Q8IWB9-2; Sequence=VSP_019569; 


uniprotID: Q5JUR7
geneSymbol: TEX30
name: Testis-expressed protein 30
length: 227
go: ENSG00000151287;
opentargets: hydrolase activity [GO:0016787]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JUR7-1; Sequence=Displayed; Name=2; IsoId=Q5JUR7-2; Sequence=VSP_055706, VSP_055707; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: O43247
geneSymbol: TEX33
name: Testis-expressed protein 33
length: 280
go: ENSG00000185264;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43247-1; Sequence=Displayed; Name=2; IsoId=O43247-2; Sequence=VSP_028351; Note=No experimental confirmation available.; 


uniprotID: Q5T0J7
geneSymbol: TEX35
name: Testis-expressed protein 35
length: 233
go: ENSG00000240021;
opentargets: microtubule cytoskeleton [GO:0015630]; nucleus [GO:0005634]
snps: rs16852957 rs12079481 rs3813636 rs3813636
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q5T0J7-1; Sequence=Displayed; Name=2; IsoId=Q5T0J7-2; Sequence=VSP_020738, VSP_020740; Name=3; IsoId=Q5T0J7-3; Sequence=VSP_020739; Name=4; IsoId=Q5T0J7-4; Sequence=VSP_020737, VSP_020741; Name=5; IsoId=Q5T0J7-5; Sequence=VSP_045739; 


uniprotID: Q5VZQ5
geneSymbol: TEX36
name: Testis-expressed protein 36
length: 186
go: ENSG00000175018;
snps: rs9422915
sequence:
MTKGRRFNPPSDKDGRWFPHIGLTQKTPESITSATSKEPQSPHLPRQAEGKLPPIYKVREKQAVNNQFPFSVHDNRHSLENSGCYLDSGLGRKKISPDKRQHVSRNFNLWACDYVPSCLDGFSNNQISYVYKEAMVVSSFRRFPRCYKEIWNAFTFLPERSYTEVLKKKPKVRFTVDKKVVSSLES


uniprotID: Q96LM6
geneSymbol: TEX37
name: Testis-expressed sequence 37 protein (Testis-specific conserved protein of 21 kDa)
length: 180
go: ENSG00000172073;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
snps: rs35750657
sequence:
MAGVKYPGQDPVDLDIYQSSHMVDYQPYRKHKYSRVTPQEQAKLDAQLRDKEFYRPIPNPNPKLTDGYPAFKRPHMTAKDLGLPGFFPSQEHEATREDERKFTSTCHFTYPASHDLHLAQGDPNQVLQSADFPCLVDPKHQPAAEMAKGYLLLPGCPCLHCHIVKVPILNRWGPLMPFYQ

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9DAG4}. Cytoplasm {ECO:0000269|PubMed:26168773}. Note=Present in the germ cell lineage at all stages (PubMed:26168773). {ECO:0000269|PubMed:26168773}.


uniprotID: Q6PEX7
geneSymbol: TEX38
name: Testis-expressed protein 38 (ATPAF1 antisense RNA 1) (ATPAF1 antisense gene protein 1)
length: 206
go: ENSG00000186118;
opentargets: integral component of membrane [GO:0016021]
snps: rs614486 rs1025806
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6ZNM6
geneSymbol: TEX43
name: Testis-expressed protein 43
length: 134
go: ENSG00000196900;
sequence:
MASGKDTCPTLPKLTNNCSDESLYKSANKYEEIHLPRFSLKQGMIPRRYVMPWKENMIFRNVNLKQAEVCGIHTGPLEDSLFLNHSERLCHGEDRKVVFQKGPPEIKIADMPLHSPLSRYQSTVISHGFRRRLV


uniprotID: Q53QW1
geneSymbol: TEX44
name: Testis-expressed protein 44
length: 395
go: ENSG00000177673;
opentargets: cytoplasm [GO:0005737]
snps: rs16828251 rs16828254 rs16828257 rs10933378
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:26168773}.
sequence:


uniprotID: Q8NA69
geneSymbol: TEX45
name: Testis-expressed protein 45
length: 505
go: ENSG00000198723;
snps: rs484870 rs3826736 rs475923 rs1133378 rs608144
sequence:


uniprotID: H3BTG2
geneSymbol: TEX46
name: Testis-expressed protein 46
length: 121
go: ENSG00000227868;
sequence:
MSLHGILASAGTIGAVAAWLMSYKPALFGFLFLLLLLSNWLVKYEHKLTLPEPQQDEILQRLLFSEMKMKVLENQMFIIWNKMNHHGRSSRHRNFPMKKHRMRRHESICPTLSDCTSSSPS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=H3BTG2-1; Sequence=Displayed; Name=2; IsoId=H3BTG2-2; Sequence=VSP_047833, VSP_047834; 


uniprotID: Q8TBZ9
geneSymbol: TEX47
name: Testis-expressed protein 47
length: 253
go: ENSG00000164645;
snps: rs2373396 rs2293583 rs34276371 rs2373398 rs2373397
sequence:


uniprotID: A0A1B0GUV7
geneSymbol: TEX48
name: Testis-expressed protein 48
length: 120
go: ENSG00000230601;
sequence:
MAAHQNLILKIFCLCCRDCQEPYAINDSKVPSQTQEHKPSTQNLLLQKDELDRQNPKRINAVSHLPSRTPLIQTKKSTSSSSSEFEDLNAYASQRNFYKRNLNRYCQEHWPFQPCLTGRP


uniprotID: A0A1B0GTD5
geneSymbol: TEX49
name: Testis-expressed protein 49
length: 131
go: ENSG00000257987;
sequence:
MAFFNLYLLGYQNSFQNKKRNTTEETNQKEPEPTRLPPIISKDGNYSVHQNSHTRYHEAVRKVLLKTFPNQVFRIPLTDAQNFSFWWSHDPGVRPEETMPWIRSPRHCLIKSAMTRFMDHSILNDRTFSLY


uniprotID: A0A1B0GTY4
geneSymbol: TEX50
name: Testis-expressed protein 50
length: 177
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}.
sequence:
MSNQRLPLIFSLLFICFFGESFCICDGTVWTKVGWEILPEEVHYWKVKGSPSHCLPYLLDKLCCDFANMDIFQGCLYLIYNLLQAVFFVLFVLSVHYLWKKWKKHQKKLKKQASLEKPGNDLESPLINNIDQTLHRVATTASVIYKIWEHRSHHPSSKKIKHCKLKKKSKEEGARRY


uniprotID: A0A1B0GUA7
geneSymbol: TEX51
name: Testis-expressed protein 51
length: 166
go: ENSG00000237524;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}.
sequence:
MLPLLIICLLPAIEGKNCLRCWPELSALIDYDLQILWVTPGPPTELSQNRDHLEEETAKFFTQVHQAIKTLRDDKTVLLEEIYTHKNLFTERLNKISDGLKEKDIQSTLKVTSCADCRTHFLSCNDPTFCPARNRRTSLWAVSLSSALLLAIAGDVSFTGKGRRRQ


uniprotID: A6NCN8
geneSymbol: TEX52
name: Testis-expressed protein 52
length: 305
sequence:


uniprotID: A0A1B0GVG6
geneSymbol: TEX54
name: Testis-expressed protein 54
length: 124
sequence:
MGCCQDKDFEMSDEQSKEEESEDGREDETTDTQRGPRECERGLPEGRGELRGLVVPSGAEDIDLNSPDHPNHKSNESLLITVLWRRLSTFGRRGSSRPSKRQPDQIRKQESPIREGNQEEPEKG


uniprotID: Q8N6V9
geneSymbol: TEX9
name: Testis-expressed protein 9
length: 391
go: ENSG00000151575;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N6V9-1; Sequence=Displayed; Name=2; IsoId=Q8N6V9-2; Sequence=VSP_055381; Note=No experimental confirmation available.; 


uniprotID: P52655
geneSymbol: GTF2A1
pdb: 1NVP;5FUR;5IY6;5IY7;5IY8;5IY9;5IYA;5IYB;5IYC;5IYD;5M4S;
length: 376
go: ENSG00000165417;
snps: rs17111579
location: SUBCELLULAR LOCATION: Nucleus.
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;R-HSA-9018519;

name:
Transcription initiation factor IIA subunit 1 (General transcription factor IIA subunit 1) (TFIIAL) (Transcription initiation factor TFIIA 42 kDa subunit) (TFIIA-42) [Cleaved into: Transcription initiation factor IIA alpha chain (TFIIA p35 subunit); Transcription initiation factor IIA beta chain (TFIIA p19 subunit)]

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; transcription factor TFIIA complex [GO:0005672]; transcription factor TFIID complex [GO:0005669]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; RNA polymerase II repressing transcription factor binding [GO:0001103]; TBP-class protein binding [GO:0017025]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=42 kDa; IsoId=P52655-1; Sequence=Displayed; Name=37 kDa; IsoId=P52655-2; Sequence=VSP_018798; 


uniprotID: Q9UNN4
geneSymbol: GTF2A1L
name: TFIIA-alpha and beta-like factor (General transcription factor II A, 1-like factor)
length: 478
go: ENSG00000242441;
sequence:

opentargets:
cytoplasm [GO:0005737]; transcription factor TFIIA complex [GO:0005672]; DNA binding [GO:0003677]; transcription coactivator activity [GO:0003713]; cognition [GO:0050890]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UNN4-1; Sequence=Displayed; Name=2; IsoId=Q9UNN4-2; Sequence=VSP_040935; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16525715}. Note=Mainly localizes in the annulus and partly in acrosomal cap area of spermatozoa.


uniprotID: Q12789
geneSymbol: GTF3C1
reactome: R-HSA-749476;R-HSA-76061;R-HSA-76066;
length: 2109
go: ENSG00000077235;
snps: rs35233306 rs12919017 rs2228248
location: SUBCELLULAR LOCATION: Nucleus.
name:
General transcription factor 3C polypeptide 1 (TF3C-alpha) (TFIIIC box B-binding subunit) (Transcription factor IIIC 220 kDa subunit) (TFIIIC 220 kDa subunit) (TFIIIC220) (Transcription factor IIIC subunit alpha)

sequence:

opentargets:
membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; transcription factor TFIIIC complex [GO:0000127]; RNA polymerase III type 1 promoter sequence-specific DNA binding [GO:0001002]; RNA polymerase III type 2 promoter sequence-specific DNA binding [GO:0001003]; 5S class rRNA transcription by RNA polymerase III [GO:0042791]; rRNA transcription [GO:0009303]; transcription by RNA polymerase III [GO:0006383]; transcription initiation from RNA polymerase III promoter [GO:0006384]; tRNA transcription [GO:0009304]; tRNA transcription by RNA polymerase III [GO:0042797]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12789-2; Sequence=Displayed; Name=2; IsoId=Q12789-3; Sequence=VSP_021819; Note=No experimental confirmation available.; 


uniprotID: Q8WUA4
geneSymbol: GTF3C2
reactome: R-HSA-749476;R-HSA-76061;R-HSA-76066;
length: 911
go: ENSG00000115207;
location: SUBCELLULAR LOCATION: Nucleus.
name:
General transcription factor 3C polypeptide 2 (TF3C-beta) (Transcription factor IIIC 110 kDa subunit) (TFIIIC 110 kDa subunit) (TFIIIC110) (Transcription factor IIIC subunit beta)

sequence:

opentargets:
nucleoplasm [GO:0005654]; transcription factor TFIIIC complex [GO:0000127]; 5S class rRNA transcription by RNA polymerase III [GO:0042791]; transcription by RNA polymerase III [GO:0006383]; tRNA transcription by RNA polymerase III [GO:0042797]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WUA4-1; Sequence=Displayed; Name=2; IsoId=Q8WUA4-2; Sequence=VSP_010566, VSP_010567; Note=No experimental confirmation available.; 


uniprotID: Q9Y5Q9
geneSymbol: GTF3C3
reactome: R-HSA-749476;R-HSA-76061;R-HSA-76066;
length: 886
go: ENSG00000119041;
snps: rs11559078
location: SUBCELLULAR LOCATION: Nucleus.
name:
General transcription factor 3C polypeptide 3 (Transcription factor IIIC 102 kDa subunit) (TFIIIC 102 kDa subunit) (TFIIIC102) (Transcription factor IIIC subunit gamma) (TF3C-gamma)

sequence:

opentargets:
nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor TFIIIC complex [GO:0000127]; DNA binding [GO:0003677]; RNA polymerase III transcription regulator recruiting activity [GO:0001004]; 5S class rRNA transcription by RNA polymerase III [GO:0042791]; transcription by RNA polymerase III [GO:0006383]; tRNA transcription by RNA polymerase III [GO:0042797]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5Q9-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5Q9-2; Sequence=VSP_010353, VSP_010354; Note=May be due to exon skipping.; 


uniprotID: Q9UKN8
geneSymbol: GTF3C4
reactome: R-HSA-749476;R-HSA-76061;R-HSA-76066;
length: 822
go: ENSG00000125484;
location: SUBCELLULAR LOCATION: Nucleus.
name:
General transcription factor 3C polypeptide 4 (EC 2.3.1.48) (TF3C-delta) (Transcription factor IIIC 90 kDa subunit) (TFIIIC 90 kDa subunit) (TFIIIC90) (Transcription factor IIIC subunit delta)

sequence:

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor TFIIIC complex [GO:0000127]; DNA binding [GO:0003677]; enzyme activator activity [GO:0008047]; histone acetyltransferase activity [GO:0004402]; 5S class rRNA transcription by RNA polymerase III [GO:0042791]; transcription by RNA polymerase III [GO:0006383]; transcription initiation from RNA polymerase III promoter [GO:0006384]; tRNA transcription by RNA polymerase III [GO:0042797]


uniprotID: Q9Y5Q8
geneSymbol: GTF3C5
reactome: R-HSA-749476;R-HSA-76061;R-HSA-76066;
length: 519
go: ENSG00000148308;
snps: rs637435
location: SUBCELLULAR LOCATION: Nucleus.
name:
General transcription factor 3C polypeptide 5 (TF3C-epsilon) (Transcription factor IIIC 63 kDa subunit) (TFIIIC 63 kDa subunit) (TFIIIC63) (Transcription factor IIIC subunit epsilon)

sequence:

opentargets:
nucleoplasm [GO:0005654]; transcription factor TFIIIC complex [GO:0000127]; DNA binding [GO:0003677]; 5S class rRNA transcription by RNA polymerase III [GO:0042791]; RNA polymerase III preinitiation complex assembly [GO:0070898]; skeletal muscle cell differentiation [GO:0035914]; transcription by RNA polymerase III [GO:0006383]; tRNA transcription by RNA polymerase III [GO:0042797]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y5Q8-1; Sequence=Displayed; Name=2; IsoId=Q9Y5Q8-2; Sequence=VSP_010355; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y5Q8-3; Sequence=VSP_035196; Note=No experimental confirmation available.; 


uniprotID: Q969F1
geneSymbol: GTF3C6
reactome: R-HSA-749476;R-HSA-76061;R-HSA-76066;
length: 213
go: ENSG00000155115;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17409385}.
name:
General transcription factor 3C polypeptide 6 (Transcription factor IIIC 35 kDa subunit) (TFIIIC 35 kDa subunit) (TFIIIC35) (Transcription factor IIIC subunit 6)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; transcription factor TFIIIC complex [GO:0000127]; DNA binding [GO:0003677]; 5S class rRNA transcription by RNA polymerase III [GO:0042791]; transcription by RNA polymerase III [GO:0006383]; tRNA transcription by RNA polymerase III [GO:0042797]


uniprotID: Q04206
geneSymbol: RELA
pdb: 1NFI;2LSP;2O61;3GUT;3QXY;3RC0;4KV1;4KV4;5U4K;5URN;
length: 551
go: ENSG00000173039;
reactome:
R-HSA-1169091;R-HSA-1810476;R-HSA-193692;R-HSA-202424;R-HSA-209560;R-HSA-2559582;R-HSA-2871837;R-HSA-3134963;R-HSA-3214841;R-HSA-381340;R-HSA-445989;R-HSA-448706;R-HSA-4755510;R-HSA-5603029;R-HSA-5607761;R-HSA-5607764;R-HSA-5621575;R-HSA-5660668;R-HSA-844456;R-HSA-9020702;R-HSA-933542;

name:
Transcription factor p65 (Nuclear factor NF-kappa-B p65 subunit) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; NF-kappaB p50/p65 complex [GO:0035525]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; actinin binding [GO:0042805]; activating transcription factor binding [GO:0033613]; ankyrin repeat binding [GO:0071532]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; identical protein binding [GO:0042802]; NF-kappaB binding [GO:0051059]; phosphate ion binding [GO:0042301]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein N-terminus binding [GO:0047485]; protein-containing complex binding [GO:0044877]; 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]; repressing transcription factor binding [GO:0070491]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding [GO:0000983]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; ubiquitin protein ligase binding [GO:0031625]; acetaldehyde metabolic process [GO:0006117]; aging [GO:0007568]; animal organ morphogenesis [GO:0009887]; cellular defense response [GO:0006968]; cellular response to angiotensin [GO:1904385]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to interleukin-1 [GO:0071347]; cellular response to interleukin-6 [GO:0071354]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to lipoteichoic acid [GO:0071223]; cellular response to nicotine [GO:0071316]; cellular response to peptidoglycan [GO:0071224]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; chromatin organization [GO:0006325]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; Fc-epsilon receptor signaling pathway [GO:0038095]; hair follicle development [GO:0001942]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; interleukin-1-mediated signaling pathway [GO:0070498]; liver development [GO:0001889]; membrane protein intracellular domain proteolysis [GO:0031293]; negative regulation of apoptotic process [GO:0043066]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of protein sumoylation [GO:0033234]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; NIK/NF-kappaB signaling [GO:0038061]; nucleotide-binding oligomerization domain containing 2 signaling pathway [GO:0070431]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-12 biosynthetic process [GO:0045084]; positive regulation of miRNA metabolic process [GO:2000630]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of Schwann cell differentiation [GO:0014040]; positive regulation of T cell receptor signaling pathway [GO:0050862]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus [GO:1901522]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of type I interferon production [GO:0032481]; postsynapse to nucleus signaling pathway [GO:0099527]; pri-miRNA transcription by RNA polymerase II [GO:0061614]; regulation of DNA-templated transcription in response to stress [GO:0043620]; regulation of inflammatory response [GO:0050727]; regulation of NIK/NF-kappaB signaling [GO:1901222]; regulation of transcription, DNA-templated [GO:0006355]; response to amino acid [GO:0043200]; response to cAMP [GO:0051591]; response to cobalamin [GO:0033590]; response to cytokine [GO:0034097]; response to insulin [GO:0032868]; response to interleukin-1 [GO:0070555]; response to morphine [GO:0043278]; response to muramyl dipeptide [GO:0032495]; response to muscle stretch [GO:0035994]; response to organic substance [GO:0010033]; response to progesterone [GO:0032570]; response to UV-B [GO:0010224]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell receptor signaling pathway [GO:0050852]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=p65; IsoId=Q04206-1; Sequence=Displayed; Name=2; Synonyms=p65 delta 2; IsoId=Q04206-2; Sequence=VSP_005587, VSP_005588; Name=3; Synonyms=p65 delta; IsoId=Q04206-3; Sequence=VSP_012031; Name=4; IsoId=Q04206-4; Sequence=VSP_031245; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:1493333, ECO:0000269|PubMed:15799966, ECO:0000269|PubMed:19058135, ECO:0000269|PubMed:20547752}. Cytoplasm {ECO:0000269|PubMed:1493333, ECO:0000269|PubMed:19058135, ECO:0000269|PubMed:20547752}. Note=Nuclear, but also found in the cytoplasm in an inactive form complexed to an inhibitor (I-kappa-B) (PubMed:1493333). Colocalized with DDX1 in the nucleus upon TNF-alpha induction (PubMed:19058135). Colocalizes with GFI1 in the nucleus after LPS stimulation (PubMed:20547752). {ECO:0000269|PubMed:1493333, ECO:0000269|PubMed:19058135, ECO:0000269|PubMed:20547752}.


uniprotID: Q9HCS4
geneSymbol: TCF7L1
reactome: R-HSA-201722;R-HSA-3769402;R-HSA-4086398;R-HSA-4411364;R-HSA-4641265;R-HSA-8951430;
name: Transcription factor 7-like 1 (HMG box transcription factor 3) (TCF-3)
length: 588
go: ENSG00000152284;
snps: rs11547160
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; beta-catenin binding [GO:0008013]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; beta-catenin-TCF complex assembly [GO:1904837]; canonical Wnt signaling pathway [GO:0060070]; chromatin organization [GO:0006325]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; regulation of Wnt signaling pathway [GO:0030111]


uniprotID: Q9NQB0
geneSymbol: TCF7L2
pdb: 1JDH;1JPW;2GL7;
length: 619
go: ENSG00000148737;
snps: rs2757884
reactome:
R-HSA-201722;R-HSA-3769402;R-HSA-381771;R-HSA-4086398;R-HSA-4411364;R-HSA-4641265;R-HSA-5339700;R-HSA-8951430;

name:
Transcription factor 7-like 2 (HMG box transcription factor 4) (T-cell-specific transcription factor 4) (T-cell factor 4) (TCF-4) (hTCF-4)

sequence:

opentargets:
beta-catenin-TCF7L2 complex [GO:0070369]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; protein-DNA complex [GO:0032993]; transcription factor complex [GO:0005667]; armadillo repeat domain binding [GO:0070016]; beta-catenin binding [GO:0008013]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; gamma-catenin binding [GO:0045295]; nuclear hormone receptor binding [GO:0035257]; protein kinase binding [GO:0019901]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II repressing transcription factor binding [GO:0001103]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; beta-catenin-TCF complex assembly [GO:1904837]; blood vessel development [GO:0001568]; canonical Wnt signaling pathway [GO:0060070]; canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition [GO:0044334]; cell cycle arrest [GO:0007050]; cell proliferation [GO:0008283]; fat cell differentiation [GO:0045444]; glucose homeostasis [GO:0042593]; maintenance of DNA repeat elements [GO:0043570]; myoblast fate commitment [GO:0048625]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of type B pancreatic cell apoptotic process [GO:2000675]; pancreas development [GO:0031016]; positive regulation of heparan sulfate proteoglycan biosynthetic process [GO:0010909]; positive regulation of insulin secretion [GO:0032024]; positive regulation of protein binding [GO:0032092]; positive regulation of protein export from nucleus [GO:0046827]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of hormone metabolic process [GO:0032350]; regulation of smooth muscle cell proliferation [GO:0048660]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; response to glucose [GO:0009749]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=17;  Name=1; Synonyms=TCF-4M; IsoId=Q9NQB0-1; Sequence=Displayed; Name=2; IsoId=Q9NQB0-2; Sequence=VSP_006970, VSP_006972; Name=3; IsoId=Q9NQB0-3; Sequence=VSP_006966; Name=4; IsoId=Q9NQB0-4; Sequence=VSP_006964, VSP_006970, VSP_006972; Name=5; IsoId=Q9NQB0-5; Sequence=VSP_006964; Name=6; Synonyms=TCF-4I; IsoId=Q9NQB0-6; Sequence=VSP_006967; Name=7; IsoId=Q9NQB0-7; Sequence=VSP_006964, VSP_006966; Name=8; IsoId=Q9NQB0-8; Sequence=VSP_006962; Name=9; Synonyms=TCF-4G; IsoId=Q9NQB0-9; Sequence=VSP_006965, VSP_006969; Name=10; IsoId=Q9NQB0-10; Sequence=VSP_006962, VSP_006963, VSP_006968, VSP_006971; Name=11; IsoId=Q9NQB0-11; Sequence=VSP_006962, VSP_045821, VSP_006965, VSP_006969; Name=12; IsoId=Q9NQB0-12; Sequence=VSP_006962, VSP_045822; Note=Low expression in pancreas and colon.; Name=13; Synonyms=TCF-4J; IsoId=Q9NQB0-13; Sequence=VSP_006962, VSP_006964, VSP_006966; Note=Common splicing form, lowest expression in skeletal muscle.; Name=14; Synonyms=TCF-4B, short; IsoId=Q9NQB0-14; Sequence=VSP_006962, VSP_006965, VSP_006969; Note=High transcriptional activity. Major isoform in liver.; Name=15; Synonyms=TCF-4A; IsoId=Q9NQB0-15; Sequence=VSP_006962, VSP_053750, VSP_006965, VSP_006969; Name=16; Synonyms=TCF-4K; IsoId=Q9NQB0-16; Sequence=VSP_006962, VSP_053750, VSP_006964; Name=17; Synonyms=TCF-4X2; IsoId=Q9NQB0-17; Sequence=VSP_053748, VSP_053749; 

location:
SUBCELLULAR LOCATION: Nucleus, PML body {ECO:0000269|PubMed:12727872, ECO:0000269|PubMed:22699938, ECO:0000269|PubMed:9916915}. Note=Diffuse pattern. Colocalizes with SUMO1 and PIAS4 in a subset of PML (promyelocytic leukemia) nuclear bodies.


uniprotID: Q00059
geneSymbol: TFAM
reactome: R-HSA-163282;R-HSA-2151201;
pdb: 3FGH;3TMM;3TQ6;4NNU;4NOD;6ERP;6ERQ;
length: 246
go: ENSG00000108064;
snps: rs1937 rs757075712
name:
Transcription factor A, mitochondrial (mtTFA) (Mitochondrial transcription factor 1) (MtTF1) (Transcription factor 6) (TCF-6) (Transcription factor 6-like 2)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; DNA binding, bending [GO:0008301]; DNA-binding transcription factor activity [GO:0003700]; heat shock protein binding [GO:0031072]; mitochondrial promoter sequence-specific DNA binding [GO:0001018]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565]; transcription coactivator binding [GO:0001223]; mitochondrial respiratory chain complex assembly [GO:0033108]; mitochondrial transcription [GO:0006390]; mitochondrion organization [GO:0007005]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription initiation from mitochondrial promoter [GO:0006391]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q00059-1; Sequence=Displayed; Name=2; IsoId=Q00059-2; Sequence=VSP_047019; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:1737790, ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:22841477, ECO:0000269|PubMed:29445193}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:18063578}.


uniprotID: Q01664
geneSymbol: TFAP4
length: 338
go: ENSG00000090447;
snps: rs251732
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcription factor AP-4 (Activating enhancer-binding protein 4) (Class C basic helix-loop-helix protein 41) (bHLHc41)

sequence:

opentargets:
mitochondrion [GO:0005739]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; histone deacetylase binding [GO:0042826]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription regulatory region DNA binding [GO:0044212]; cellular response to dexamethasone stimulus [GO:0071549]; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:0006978]; negative regulation by host of viral transcription [GO:0043922]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of DNA binding [GO:0043392]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:2001269]; positive regulation of transcription, DNA-templated [GO:0045893]; protein-containing complex assembly [GO:0065003]; regulation of mitotic cell cycle phase transition [GO:1901990]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q8WVM0
geneSymbol: TFB1M
reactome: R-HSA-2151201;R-HSA-6793080;
length: 346
go: ENSG00000029639;
snps: rs144355958 rs769497533 rs73579353
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11809803}.
name:
Dimethyladenosine transferase 1, mitochondrial (EC 2.1.1.-) (Mitochondrial 12S rRNA dimethylase 1) (Mitochondrial transcription factor B1) (h-mtTFB) (h-mtTFB1) (hTFB1M) (mtTFB1) (S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; rRNA (adenine-N6,N6-)-dimethyltransferase activity [GO:0000179]; mitochondrion organization [GO:0007005]; rRNA methylation [GO:0031167]; rRNA modification [GO:0000154]


uniprotID: Q06330
geneSymbol: RBPJ
pdb: 2F8X;3NBN;3V79;
length: 500
go: ENSG00000168214;
snps: rs387907270 rs387907271 rs1064372 rs1064376 rs1064381 rs1064384 rs1064387 rs1064402
reactome:
R-HSA-1912408;R-HSA-210744;R-HSA-2122947;R-HSA-2197563;R-HSA-2644606;R-HSA-2894862;R-HSA-350054;R-HSA-8941856;R-HSA-9013508;R-HSA-9013695;

name:
Recombining binding protein suppressor of hairless (CBF-1) (J kappa-recombination signal-binding protein) (RBP-J kappa) (RBP-J) (RBP-JK) (Renal carcinoma antigen NY-REN-30)

sequence:

opentargets:
cytoplasm [GO:0005737]; MAML1-RBP-Jkappa- ICN1 complex [GO:0002193]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; transcriptional repressor complex [GO:0017053]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein N-terminus binding [GO:0047485]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; recombinase activity [GO:0000150]; repressing transcription factor binding [GO:0070491]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II repressing transcription factor binding [GO:0001103]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; angiogenesis [GO:0001525]; aortic valve development [GO:0003176]; arterial endothelial cell fate commitment [GO:0060844]; atrioventricular canal development [GO:0036302]; auditory receptor cell fate commitment [GO:0009912]; B cell differentiation [GO:0030183]; blood vessel endothelial cell fate specification [GO:0097101]; blood vessel lumenization [GO:0072554]; blood vessel remodeling [GO:0001974]; cardiac left ventricle morphogenesis [GO:0003214]; Clara cell differentiation [GO:0060486]; defense response to bacterium [GO:0042742]; DNA recombination [GO:0006310]; dorsal aorta morphogenesis [GO:0035912]; endocardium morphogenesis [GO:0003160]; epidermal cell fate specification [GO:0009957]; epithelial to mesenchymal transition [GO:0001837]; epithelial to mesenchymal transition involved in endocardial cushion formation [GO:0003198]; hair follicle maturation [GO:0048820]; humoral immune response [GO:0006959]; inflammatory response to antigenic stimulus [GO:0002437]; interleukin-4 secretion [GO:0072602]; keratinocyte differentiation [GO:0030216]; labyrinthine layer blood vessel development [GO:0060716]; myeloid dendritic cell differentiation [GO:0043011]; negative regulation of cell differentiation [GO:0045596]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of ossification [GO:0030279]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; Notch signaling involved in heart development [GO:0061314]; Notch signaling pathway [GO:0007219]; outflow tract morphogenesis [GO:0003151]; pituitary gland development [GO:0021983]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment [GO:1901297]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell proliferation involved in heart morphogenesis [GO:2000138]; positive regulation of ephrin receptor signaling pathway [GO:1901189]; positive regulation of ERBB signaling pathway [GO:1901186]; positive regulation of gene expression [GO:0010628]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061419]; positive regulation of transcription of Notch receptor target [GO:0007221]; pulmonary valve development [GO:0003177]; regulation of timing of cell differentiation [GO:0048505]; regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation [GO:0003256]; sebaceous gland development [GO:0048733]; secondary heart field specification [GO:0003139]; somatic stem cell population maintenance [GO:0035019]; somitogenesis [GO:0001756]; transcription initiation from RNA polymerase II promoter [GO:0006367]; ventricular septum morphogenesis [GO:0060412]; ventricular trabecula myocardium morphogenesis [GO:0003222]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=APCR-2; IsoId=Q06330-1; Sequence=Displayed; Name=APCR-1; IsoId=Q06330-2; Sequence=VSP_002717; Name=APCR-3; IsoId=Q06330-3; Sequence=VSP_002718, VSP_002719; Name=4; IsoId=Q06330-4; Sequence=VSP_021573; Name=5; IsoId=Q06330-5; Sequence=VSP_021572; Name=6; IsoId=Q06330-6; Sequence=VSP_021574; Name=7; IsoId=Q06330-7; Sequence=VSP_042637; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly nuclear, upon interaction with RITA/C12orf52, translocates to the cytoplasm, down-regulating the Notch signaling pathway.


uniprotID: Q15526
geneSymbol: SURF1
reactome: R-HSA-5628897;R-HSA-611105;
name: Surfeit locus protein 1
length: 300
go: ENSG00000148290;
snps: rs116779216 rs782024654 rs28933402 rs782033035 rs782190413 rs72619327 rs398122806 rs121918658
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial respiratory chain [GO:0005746]; cytochrome-c oxidase activity [GO:0004129]; aerobic respiration [GO:0009060]; ATP biosynthetic process [GO:0006754]; mitochondrial respiratory chain complex IV assembly [GO:0033617]; oxidation-reduction process [GO:0055114]; oxidative phosphorylation [GO:0006119]; respiratory chain complex IV assembly [GO:0008535]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15526-1; Sequence=Displayed; Name=2; IsoId=Q15526-2; Sequence=VSP_034817; Note=No experimental confirmation available.; 


uniprotID: Q5T5J6
geneSymbol: SWT1
name: Transcriptional protein SWT1
length: 900
go: ENSG00000116668;
opentargets: nucleus [GO:0005634]; transcription, DNA-templated [GO:0006351]
snps: rs10489579 rs6698109 rs2295950 rs12041704
sequence:


uniprotID: P04350
geneSymbol: TUBB4A
name: Tubulin beta-4A chain (Tubulin 5 beta) (Tubulin beta-4 chain)
length: 444
go: ENSG00000104833;
drug: DB05147;DB03010;DB01873;DB06042;
snps: rs587776983 rs1053262 rs483352809 rs1053267
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;

sequence:

opentargets:
axoneme [GO:0005930]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; internode region of axon [GO:0033269]; microtubule [GO:0005874]; myelin sheath [GO:0043209]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; 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]; negative regulation of microtubule polymerization [GO:0031115]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]


uniprotID: Q5T160
geneSymbol: RARS2
reactome: R-HSA-379726;
name: Probable arginine--tRNA ligase, mitochondrial (EC 6.1.1.19) (Arginyl-tRNA synthetase) (ArgRS)
length: 578
go: ENSG00000146282;
snps: rs17850652 rs3757370 rs1108758
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; arginine-tRNA ligase activity [GO:0004814]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; arginyl-tRNA aminoacylation [GO:0006420]; mitochondrial translation [GO:0032543]; tRNA aminoacylation for protein translation [GO:0006418]


uniprotID: P59538
geneSymbol: TAS2R31
reactome: R-HSA-418594;R-HSA-420499;
length: 309
go: ENSG00000256436;
snps: rs10845295 rs10743938 rs10845294 rs10845293 rs10772423 rs12318612
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Taste receptor type 2 member 31 (T2R31) (Taste receptor type 2 member 44) (T2R44) (Taste receptor type 2 member 53) (T2R53)

sequence:

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


uniprotID: P59544
geneSymbol: TAS2R50
reactome: R-HSA-418594;R-HSA-420499;
name: Taste receptor type 2 member 50 (T2R50) (Taste receptor type 2 member 51) (T2R51)
length: 299
go: ENSG00000212126;
snps: rs1376251
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

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


uniprotID: P59533
geneSymbol: TAS2R38
reactome: R-HSA-418594;R-HSA-420499;
length: 333
go: ENSG00000257138;
snps: rs713598 rs1726866 rs10246939
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Taste receptor type 2 member 38 (T2R38) (PTC bitter taste receptor) (Taste receptor type 2 member 61) (T2R61)

sequence:

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


uniprotID: P59534
geneSymbol: TAS2R39
reactome: R-HSA-418594;R-HSA-420499;
pdb: 2GFZ;
name: Taste receptor type 2 member 39 (T2R39) (Taste receptor type 2 member 57) (T2R57)
length: 338
snps: rs35474877 rs34169190
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:


uniprotID: P59535
geneSymbol: TAS2R40
reactome: R-HSA-418594;R-HSA-420499;
length: 323
snps: rs17164164 rs10260248
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Taste receptor type 2 member 40 (T2R40) (G-protein coupled receptor 60) (Taste receptor type 2 member 58) (T2R58)

sequence:


uniprotID: O75478
geneSymbol: TADA2A
reactome: R-HSA-3214847;
pdb: 1X41;
name: Transcriptional adapter 2-alpha (Transcriptional adapter 2-like) (ADA2-like protein)
length: 443
snps: rs7211875 rs1054865 rs2522969
sequence:

opentargets:
chromosome [GO:0005694]; nucleus [GO:0005634]; PCAF complex [GO:0000125]; SAGA-type complex [GO:0070461]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; chromatin remodeling [GO:0006338]; histone H3 acetylation [GO:0043966]; positive regulation of histone acetylation [GO:0035066]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75478-1; Sequence=Displayed; Name=2; IsoId=O75478-2; Sequence=VSP_040347, VSP_040348; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22644376}. Chromosome {ECO:0000250|UniProtKB:Q8CHV6}.


uniprotID: Q86TJ2
geneSymbol: TADA2B
reactome: R-HSA-3214847;R-HSA-5689880;
name: Transcriptional adapter 2-beta (ADA2-like protein beta) (ADA2-beta)
length: 420
go: ENSG00000173011;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SAGA-type complex [GO:0070461]; STAGA complex [GO:0030914]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; transcription coactivator activity [GO:0003713]; zinc ion binding [GO:0008270]; chromatin remodeling [GO:0006338]; histone acetylation [GO:0016573]; positive regulation of histone acetylation [GO:0035066]; protein deubiquitination [GO:0016579]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86TJ2-1; Sequence=Displayed; Name=2; IsoId=Q86TJ2-2; Sequence=VSP_030110; Note=No experimental confirmation available.; Name=3; IsoId=Q86TJ2-3; Sequence=VSP_030109; 


uniprotID: Q6P1K8
geneSymbol: GTF2H2C; GTF2H2C_2
length: 395
go: ENSG00000183474;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
General transcription factor IIH subunit 2-like protein (General transcription factor IIH polypeptide 2-like protein)

sequence:

opentargets:
nuclear speck [GO:0016607]; transcription factor TFIIH core complex [GO:0000439]; transcription factor TFIIH holo complex [GO:0005675]; nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]; nucleotide-excision repair [GO:0006289]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription, DNA-templated [GO:0006351]


uniprotID: P09758
geneSymbol: TACSTD2
pdb: 2MAE;2MVK;2MVL;
length: 323
go: ENSG00000184292;
snps: rs1062964 rs35075952 rs14008
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Tumor-associated calcium signal transducer 2 (Cell surface glycoprotein Trop-2) (Membrane component chromosome 1 surface marker 1) (Pancreatic carcinoma marker protein GA733-1)

sequence:

opentargets:
basal plasma membrane [GO:0009925]; bicellular tight junction [GO:0005923]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; lateral plasma membrane [GO:0016328]; membrane [GO:0016020]; nucleus [GO:0005634]; cadherin binding involved in cell-cell adhesion [GO:0098641]; signaling receptor activity [GO:0038023]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; negative regulation of branching involved in ureteric bud morphogenesis [GO:0090191]; negative regulation of cell motility [GO:2000146]; negative regulation of epithelial cell migration [GO:0010633]; negative regulation of ruffle assembly [GO:1900028]; negative regulation of stress fiber assembly [GO:0051497]; negative regulation of substrate adhesion-dependent cell spreading [GO:1900025]; positive regulation of stem cell differentiation [GO:2000738]; regulation of epithelial cell proliferation [GO:0050678]; ureteric bud morphogenesis [GO:0060675]; visual perception [GO:0007601]


uniprotID: Q6P1X5
geneSymbol: TAF2
pdb: 5FUR;
length: 1199
go: ENSG00000064313;
snps: rs17818842 rs398124656 rs398124655 rs9297605 rs398124645 rs34154779 rs956749 rs956748
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9774672}.
reactome:
R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-674695;R-HSA-6804756;R-HSA-73776;R-HSA-73779;R-HSA-75953;R-HSA-76042;

name:
Transcription initiation factor TFIID subunit 2 (150 kDa cofactor of initiator function) (RNA polymerase II TBP-associated factor subunit B) (TBP-associated factor 150 kDa) (Transcription initiation factor TFIID 150 kDa subunit) (TAF(II)150) (TAFII-150) (TAFII150)

sequence:

opentargets:
nucleoplasm [GO:0005654]; transcription factor TFIID complex [GO:0005669]; transcription factor TFTC complex [GO:0033276]; chromatin binding [GO:0003682]; sequence-specific DNA binding [GO:0043565]; TFIID-class transcription factor complex binding [GO:0001094]; transcription regulatory region DNA binding [GO:0044212]; G2/M transition of mitotic cell cycle [GO:0000086]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of signal transduction by p53 class mediator [GO:1901796]; response to organic cyclic compound [GO:0014070]; RNA polymerase II preinitiation complex assembly [GO:0051123]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q5VWG9
geneSymbol: TAF3
pdb: 5C13;5WXG;5WXH;
length: 929
go: ENSG00000165632;
snps: rs17366712 rs4747647 rs1244229 rs10795583
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11438666}.
reactome:
R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-674695;R-HSA-6804756;R-HSA-73776;R-HSA-73779;R-HSA-75953;R-HSA-76042;

name:
Transcription initiation factor TFIID subunit 3 (140 kDa TATA box-binding protein-associated factor) (TBP-associated factor 3) (Transcription initiation factor TFIID 140 kDa subunit) (TAF(II)140) (TAF140) (TAFII-140) (TAFII140)

sequence:

opentargets:
nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor TFIID complex [GO:0005669]; metal ion binding [GO:0046872]; p53 binding [GO:0002039]; protein heterodimerization activity [GO:0046982]; maintenance of protein location in nucleus [GO:0051457]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of signal transduction by p53 class mediator [GO:1901796]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q53LP3
geneSymbol: SOWAHC
length: 525
go: ENSG00000198142;
name:
Ankyrin repeat domain-containing protein SOWAHC (Ankyrin repeat domain-containing protein 57) (Protein sosondowah homolog C)

sequence:


uniprotID: Q6NVH7
geneSymbol: SWSAP1
length: 229
go: ENSG00000173928;
snps: rs317926
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:21965664}.
name:
ATPase SWSAP1 (SWIM-type zinc finger 7-associated protein 1) (SWS1-associated protein 1) (ZSWIM7-associated protein 1) (ZSWIM7AP1)

sequence:

opentargets:
nucleus [GO:0005634]; Shu complex [GO:0097196]; ATPase activity [GO:0016887]; single-stranded DNA binding [GO:0003697]; double-strand break repair via homologous recombination [GO:0000724]; protein stabilization [GO:0050821]


uniprotID: O43463
geneSymbol: SUV39H1
reactome: R-HSA-3214841;R-HSA-427359;
pdb: 3MTS;
length: 412
go: ENSG00000101945;
name:
Histone-lysine N-methyltransferase SUV39H1 (EC 2.1.1.43) (Histone H3-K9 methyltransferase 1) (H3-K9-HMTase 1) (Lysine N-methyltransferase 1A) (Position-effect variegation 3-9 homolog) (Suppressor of variegation 3-9 homolog 1) (Su(var)3-9 homolog 1)

sequence:

opentargets:
chromatin silencing complex [GO:0005677]; chromosome, centromeric region [GO:0000775]; condensed nuclear chromosome [GO:0000794]; heterochromatin [GO:0000792]; nuclear lamina [GO:0005652]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; rDNA heterochromatin [GO:0033553]; chromatin binding [GO:0003682]; histone methyltransferase activity [GO:0042054]; histone methyltransferase activity (H3-K9 specific) [GO:0046974]; histone-lysine N-methyltransferase activity [GO:0018024]; protein N-terminus binding [GO:0047485]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; cell cycle [GO:0007049]; cell differentiation [GO:0030154]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to hypoxia [GO:0071456]; chromatin organization [GO:0006325]; chromatin silencing at rDNA [GO:0000183]; histone H3-K9 dimethylation [GO:0036123]; histone H3-K9 trimethylation [GO:0036124]; negative regulation of circadian rhythm [GO:0042754]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; rhythmic process [GO:0048511]; rRNA processing [GO:0006364]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43463-1; Sequence=Displayed; Name=2; IsoId=O43463-2; Sequence=VSP_054286; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus lamina. Nucleus, nucleoplasm. Chromosome, centromere. Note=Associates with centromeric constitutive heterochromatin.


uniprotID: Q13509
geneSymbol: TUBB3
pdb: 5IJ0;5IJ9;5JCO;
name: Tubulin beta-3 chain (Tubulin beta-4 chain) (Tubulin beta-III)
length: 450
go: ENSG00000258947;
drug: DB05147;DB03010;DB01873;DB04845;DB06042;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; microtubule [GO:0005874]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; structural constituent of cytoskeleton [GO:0005200]; axon guidance [GO:0007411]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]; neuron differentiation [GO:0030182]

snps:
rs864321714 rs747480526 rs878853257 rs267607162 rs864321716 rs267607163 rs878853258 rs878853256 rs864321717 rs267607165 rs267607164 rs267607164 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13509-1; Sequence=Displayed; Name=2; IsoId=Q13509-2; Sequence=VSP_054659; Note=No experimental confirmation available.; 


uniprotID: Q8IZU3
geneSymbol: SYCP3
reactome: R-HSA-1221632;
pdb: 4CPC;
name: Synaptonemal complex protein 3 (SCP-3)
length: 236
go: ENSG00000139351;
sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; lateral element [GO:0000800]; nucleus [GO:0005634]; synaptonemal complex [GO:0000795]; DNA binding [GO:0003677]; cell division [GO:0051301]; male meiosis I [GO:0007141]; meiotic cell cycle [GO:0051321]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]; spermatogenesis, exchange of chromosomal proteins [GO:0035093]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q60547}. Chromosome {ECO:0000250|UniProtKB:Q60547}. Chromosome, centromere {ECO:0000250|UniProtKB:Q60547}. Note=It is present in early unpaired cores, in the lateral domains of the synaptonemal complex and in the chromosome cores when they separate at diplotene. It is found axial to the metaphase I chromosomes and in association with pairs of sister centromeres. The centromere-associated protein becomes dissociated from the centromeres at anaphase II and is not found in mitotic metaphase centromeres. {ECO:0000250|UniProtKB:Q60547}.


uniprotID: Q7Z422
geneSymbol: SZRD1
name: SUZ domain-containing protein 1 (Putative MAPK-activating protein PM18/PM20/PM22)
length: 152
go: ENSG00000055070;
sequence:
MEDEEVAESWEEAADSGEIDRRLEKKLKITQKESRKSKSPPKVPIVIQDDSLPAGPPPQIRILKRPTSNGVVSSPNSTSRPTLPVKSLAQREAEYAEARKRILGSASPEEEQEKPILDRPTRISQPEDSRQPNNVIRQPLGPDGSQGFKQRR

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q7Z422-1; Sequence=Displayed; Name=2; IsoId=Q7Z422-2; Sequence=VSP_027995; Name=3; IsoId=Q7Z422-3; Sequence=VSP_027997; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z422-4; Sequence=VSP_027996; Name=5; IsoId=Q7Z422-5; Sequence=VSP_055690; Note=No experimental confirmation available. Derived from EST data.; 


uniprotID: Q5T011
geneSymbol: SZT2
name: KICSTOR complex protein SZT2 (Seizure threshold 2 protein homolog)
length: 3432
go: ENSG00000198198;
snps: rs886041034
sequence:

opentargets:
KICSTOR complex [GO:0140007]; lysosomal membrane [GO:0005765]; peroxisome [GO:0005777]; cellular response to amino acid starvation [GO:0034198]; cellular response to glucose starvation [GO:0042149]; central nervous system development [GO:0007417]; corpus callosum morphogenesis [GO:0021540]; negative regulation of TORC1 signaling [GO:1904262]; pigmentation [GO:0043473]; post-embryonic development [GO:0009791]; protein localization to lysosome [GO:0061462]; regulation of superoxide dismutase activity [GO:1901668]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5T011-1; Sequence=Displayed; Note=Gene prediction based on similarity to mouse ortholog. No experimental confirmation available.; Name=2; IsoId=Q5T011-4; Sequence=VSP_034456, VSP_034457; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=3; IsoId=Q5T011-5; Sequence=VSP_039916; Name=4; IsoId=Q5T011-7; Sequence=VSP_039913, VSP_039914, VSP_039915; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:28199306, ECO:0000269|PubMed:28199315}. Peroxisome {ECO:0000250|UniProtKB:A2A9C3}. Note=Localization to lysosomes is amino acid-independent. {ECO:0000269|PubMed:28199306, ECO:0000269|PubMed:28199315}.


uniprotID: A6NGB0
geneSymbol: TMEM191C
name: Transmembrane protein 191C
length: 347
go: ENSG00000206140;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:


uniprotID: Q3YBM2
geneSymbol: TMEM176B
name: Transmembrane protein 176B (Protein LR8)
length: 270
go: ENSG00000106565;
snps: rs10240587 rs11546671 rs28434777 rs3173833 rs2072443 rs17256042
location: SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; animal organ morphogenesis [GO:0009887]; cell differentiation [GO:0030154]; negative regulation of dendritic cell differentiation [GO:2001199]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3YBM2-1; Sequence=Displayed; Name=2; IsoId=Q3YBM2-2; Sequence=VSP_046283; Note=No experimental confirmation available.; 


uniprotID: Q8IX01
geneSymbol: SUGP2
pdb: 1X4P;
length: 1082
go: ENSG00000064607;
snps: rs4808907 rs10404860 rs10414535 rs34540303 rs35646935
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
SURP and G-patch domain-containing protein 2 (Arginine/serine-rich-splicing factor 14) (Splicing factor, arginine/serine-rich 14)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IX01-1; Sequence=Displayed; Name=3; IsoId=Q8IX01-3; Sequence=VSP_013112, VSP_013113; Note=No experimental confirmation available.; Name=4; IsoId=Q8IX01-4; Sequence=VSP_013112; Note=No experimental confirmation available.; 


uniprotID: Q9NYB0
geneSymbol: TERF2IP
reactome: R-HSA-1221632;R-HSA-171306;R-HSA-2559586;
pdb: 1FEX;3K6G;4RQI;
length: 399
go: ENSG00000166848;
snps: rs4888444
name:
Telomeric repeat-binding factor 2-interacting protein 1 (TERF2-interacting telomeric protein 1) (TRF2-interacting telomeric protein 1) (Dopamine receptor-interacting protein 5) (Repressor/activator protein 1 homolog) (RAP1 homolog) (hRap1)

sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nuclear chromosome [GO:0000228]; nuclear chromosome, telomeric region [GO:0000784]; nuclear envelope [GO:0005635]; nuclear telomere cap complex [GO:0000783]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; shelterin complex [GO:0070187]; G-rich strand telomeric DNA binding [GO:0098505]; phosphatase binding [GO:0019902]; telomeric DNA binding [GO:0042162]; negative regulation of DNA recombination at telomere [GO:0048239]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of telomere maintenance [GO:0032205]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein acetylation [GO:1901985]; protection from non-homologous end joining at telomere [GO:0031848]; protein localization to chromosome, telomeric region [GO:0070198]; regulation of double-strand break repair via homologous recombination [GO:0010569]; regulation of telomere maintenance [GO:0032204]; regulation of transcription, DNA-templated [GO:0006355]; telomere capping [GO:0016233]; telomere maintenance [GO:0000723]; telomere maintenance via telomerase [GO:0007004]; telomere maintenance via telomere lengthening [GO:0010833]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q91VL8}. Cytoplasm {ECO:0000250|UniProtKB:Q91VL8}. Chromosome {ECO:0000250|UniProtKB:Q91VL8}. Chromosome, telomere {ECO:0000250|UniProtKB:Q91VL8}. Note=Associates with chromosomes, both at telomeres and in extratelomeric sites. Also exists as a cytoplasmic form, where it associates with the IKK complex. {ECO:0000250|UniProtKB:Q91VL8}.


uniprotID: P28347
geneSymbol: TEAD1
reactome: R-HSA-2032785;R-HSA-8951671;
pdb: 2HZD;3KYS;4RE1;4Z8E;5NNX;
length: 426
go: ENSG00000187079;
snps: rs11567847
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcriptional enhancer factor TEF-1 (NTEF-1) (Protein GT-IIC) (TEA domain family member 1) (TEAD-1) (Transcription factor 13) (TCF-13)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; TEAD-1-YAP complex [GO:0071148]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter sequence-specific DNA binding [GO:0000987]; RNA polymerase II transcription factor binding [GO:0001085]; sequence-specific DNA binding [GO:0043565]; transcription coactivator binding [GO:0001223]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; transcription regulator recruiting activity [GO:0001134]; transcription regulatory region DNA binding [GO:0044212]; hippo signaling [GO:0035329]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein-containing complex assembly [GO:0065003]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P28347-1; Sequence=Displayed; Name=2; IsoId=P28347-2; Sequence=VSP_056275, VSP_056276, VSP_056277; Note=No experimental confirmation available.; 


uniprotID: Q15562
geneSymbol: TEAD2
reactome: R-HSA-2032785;R-HSA-8951671;
pdb: 3L15;5DQ8;5DQE;5EMV;5HGU;
name: Transcriptional enhancer factor TEF-4 (TEA domain family member 2) (TEAD-2)
length: 447
go: ENSG00000074219;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; TEAD-2-YAP complex [GO:0071149]; transcription factor complex [GO:0005667]; disordered domain specific binding [GO:0097718]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; RNA polymerase II transcription factor binding [GO:0001085]; sequence-specific DNA binding [GO:0043565]; transcription coactivator binding [GO:0001223]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription regulator recruiting activity [GO:0001134]; transcription regulatory region DNA binding [GO:0044212]; cellular response to retinoic acid [GO:0071300]; embryonic heart tube morphogenesis [GO:0003143]; hippo signaling [GO:0035329]; lateral mesoderm development [GO:0048368]; negative regulation of cell death [GO:0060548]; neural tube closure [GO:0001843]; notochord development [GO:0030903]; paraxial mesoderm development [GO:0048339]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein-containing complex assembly [GO:0065003]; regulation of stem cell differentiation [GO:2000736]; regulation of transcription, DNA-templated [GO:0006355]; transcription initiation from RNA polymerase II promoter [GO:0006367]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q15562-1; Sequence=Displayed; Name=2; IsoId=Q15562-2; Sequence=VSP_045127; Name=3; IsoId=Q15562-3; Sequence=VSP_045126, VSP_045127; Name=4; IsoId=Q15562-4; Sequence=VSP_055673; Note=No experimental confirmation available.; 


uniprotID: Q99594
geneSymbol: TEAD3
reactome: R-HSA-2032785;R-HSA-8951671;
pdb: 5EMW;
name: Transcriptional enhancer factor TEF-5 (DTEF-1) (TEA domain family member 3) (TEAD-3)
length: 435
go: ENSG00000007866;
snps: rs35080860
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II transcription factor binding [GO:0001085]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; asymmetric neuroblast division [GO:0055059]; female pregnancy [GO:0007565]; hippo signaling [GO:0035329]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q15561
geneSymbol: TEAD4
reactome: R-HSA-2032785;R-HSA-8951671;
pdb: 5GZB;5NO6;5OAQ;6GE3;6GE4;6GE5;6GE6;6GEC;6GEE;6GEG;6GEI;6GEK;
length: 434
go: ENSG00000197905;
snps: rs11550887
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcriptional enhancer factor TEF-3 (TEA domain family member 4) (TEAD-4) (Transcription factor 13-like 1) (Transcription factor RTEF-1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II transcription factor binding [GO:0001085]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; hippo signaling [GO:0035329]; muscle organ development [GO:0007517]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; skeletal system development [GO:0001501]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15561-1; Sequence=Displayed; Name=2; IsoId=Q15561-2; Sequence=VSP_043099; Note=No experimental confirmation available.; Name=3; IsoId=Q15561-3; Sequence=VSP_045657; Note=No experimental confirmation available.; 


uniprotID: Q96MN5
geneSymbol: TCEANC2
name: Transcription elongation factor A N-terminal and central domain-containing protein 2
length: 208
go: ENSG00000116205;
opentargets: nucleus [GO:0005634]; transcription, DNA-templated [GO:0006351]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MN5-1; Sequence=Displayed; Name=2; IsoId=Q96MN5-2; Sequence=VSP_025096; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00649, ECO:0000255|PROSITE-ProRule:PRU00651}.


uniprotID: Q8N8B7
geneSymbol: TCEANC
length: 351
go: ENSG00000176896;
opentargets: nucleus [GO:0005634]; transcription, DNA-templated [GO:0006351]
snps: rs2361159
name:
Transcription elongation factor A N-terminal and central domain-containing protein (TFIIS central domain-containing protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N8B7-1; Sequence=Displayed; Name=2; IsoId=Q8N8B7-2; Sequence=VSP_039895; 


uniprotID: Q15185
geneSymbol: PTGES3
reactome: R-HSA-2162123;R-HSA-3371497;R-HSA-3371511;R-HSA-3371568;R-HSA-8937144;R-HSA-8939211;R-HSA-9018519;
pdb: 1EJF;1LG0;
length: 160
go: ENSG00000110958;
drug: DB05036;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q3ZBF7}.
name:
Prostaglandin E synthase 3 (EC 5.3.99.3) (Cytosolic prostaglandin E2 synthase) (cPGES) (Hsp90 co-chaperone) (Progesterone receptor complex p23) (Telomerase-binding protein p23)

sequence:
MQPASAKWYDRRDYVFIEFCVEDSKDVNVNFEKSKLTFSCLGGSDNFKHLNEIDLFHCIDPNDSKHKRTDRSILCCLRKGESGQSWPRLTKERAKLNWLSVDFNNWKDWEDDSDEDMSNFDRFSEMMNNMGGDEDVDLPEVDGADDDSQDSDDEKMPDLE

opentargets:
chaperone complex [GO:0101031]; chromosome, telomeric region [GO:0000781]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; telomerase holoenzyme complex [GO:0005697]; chaperone binding [GO:0051087]; DNA polymerase binding [GO:0070182]; Hsp90 protein binding [GO:0051879]; prostaglandin-E synthase activity [GO:0050220]; telomerase activity [GO:0003720]; unfolded protein binding [GO:0051082]; chaperone cofactor-dependent protein refolding [GO:0051085]; chaperone-mediated protein complex assembly [GO:0051131]; cyclooxygenase pathway [GO:0019371]; positive regulation of phosphorylation [GO:0042327]; positive regulation of telomerase activity [GO:0051973]; prostaglandin biosynthetic process [GO:0001516]; protein folding [GO:0006457]; protein stabilization [GO:0050821]; regulation of cellular response to heat [GO:1900034]; signal transduction [GO:0007165]; telomerase holoenzyme complex assembly [GO:1905323]; telomere maintenance [GO:0000723]; telomere maintenance via telomerase [GO:0007004]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q15185-1; Sequence=Displayed; Name=2; IsoId=Q15185-2; Sequence=VSP_055363; Note=No experimental confirmation available.; Name=3; IsoId=Q15185-3; Sequence=VSP_055364; Note=No experimental confirmation available.; Name=4; IsoId=Q15185-4; Sequence=VSP_055365; Note=No experimental confirmation available. {ECO:0000244|PubMed:24275569}; 


uniprotID: Q5HYJ1
geneSymbol: TECRL
reactome: R-HSA-75876;
name: Trans-2,3-enoyl-CoA reductase-like (EC 1.3.1.-) (Steroid 5-alpha-reductase 2-like 2 protein)
length: 363
go: ENSG00000205678;
snps: rs773204795
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on the CH-CH group of donors [GO:0016627]; very long-chain fatty acid biosynthetic process [GO:0042761]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum {ECO:0000269|PubMed:27861123}.


uniprotID: Q9NZ01
geneSymbol: TECR
reactome: R-HSA-75876;
pdb: 2DZJ;
length: 308
go: ENSG00000099797;
snps: rs199469705
name:
Very-long-chain enoyl-CoA reductase (EC 1.3.1.93) (Synaptic glycoprotein SC2) (Trans-2,3-enoyl-CoA reductase) (TER)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; nucleus [GO:0005634]; oxidoreductase activity [GO:0016491]; very-long-chain enoyl-CoA reductase activity [GO:0102758]; very-long-chain-acyl-CoA dehydrogenase activity [GO:0017099]; fatty acid elongation [GO:0030497]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; very long-chain fatty acid biosynthetic process [GO:0042761]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZ01-1; Sequence=Displayed; Name=2; IsoId=Q9NZ01-2; Sequence=VSP_005957; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12482854}; Multi-pass membrane protein {ECO:0000269|PubMed:12482854}.


uniprotID: Q2MV58
geneSymbol: TCTN1
reactome: R-HSA-5620912;
name: Tectonic-1
length: 587
go: ENSG00000204852;
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular space [GO:0005615]; membrane [GO:0016020]; MKS complex [GO:0036038]; central nervous system interneuron axonogenesis [GO:0021956]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; dorsal/ventral neural tube patterning [GO:0021904]; in utero embryonic development [GO:0001701]; neural tube formation [GO:0001841]; protein localization to ciliary transition zone [GO:1904491]; regulation of smoothened signaling pathway [GO:0008589]; somatic motor neuron differentiation [GO:0021523]; telencephalon development [GO:0021537]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q2MV58-1; Sequence=Displayed; Name=2; IsoId=Q2MV58-2; Sequence=VSP_017763; Name=3; IsoId=Q2MV58-3; Sequence=VSP_017759; Name=4; IsoId=Q2MV58-4; Sequence=VSP_017757; Name=5; IsoId=Q2MV58-5; Sequence=VSP_017758, VSP_017761, VSP_017763; Name=6; IsoId=Q2MV58-6; Sequence=VSP_017756, VSP_017760, VSP_017762; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Secreted {ECO:0000305}. Note=Despite the presence of a signal sequence, the full-length protein might not be secreted. Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.


uniprotID: Q96GX1
geneSymbol: TCTN2
reactome: R-HSA-5620912;
name: Tectonic-2
length: 697
go: ENSG00000168778;
sequence:

opentargets:
ciliary membrane [GO:0060170]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; integral component of membrane [GO:0016021]; MKS complex [GO:0036038]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96GX1-1; Sequence=Displayed; Name=2; IsoId=Q96GX1-2; Sequence=VSP_042776; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.


uniprotID: Q6NUS6
geneSymbol: TCTN3
reactome: R-HSA-5620912;
name: Tectonic-3
length: 607
go: ENSG00000119977;
snps: rs749447795 rs793888508
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
ciliary membrane [GO:0060170]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; apoptotic process [GO:0006915]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; positive regulation of apoptotic process [GO:0043065]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6NUS6-1; Sequence=Displayed; Name=2; IsoId=Q6NUS6-2; Sequence=VSP_017795, VSP_017796; Note=No experimental confirmation available.; Name=3; IsoId=Q6NUS6-3; Sequence=VSP_017791, VSP_017794; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q6NUS6-4; Sequence=VSP_017792, VSP_017793; Note=No experimental confirmation available.; Name=5; IsoId=Q6NUS6-5; Sequence=VSP_043266, VSP_043267; Note=No experimental confirmation available.; 


uniprotID: O75443
geneSymbol: TECTA
reactome: R-HSA-163125;
name: Alpha-tectorin
length: 2155
go: ENSG00000109927;
sequence:

opentargets:
anchored component of membrane [GO:0031225]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; extracellular matrix structural constituent [GO:0005201]; cell-matrix adhesion [GO:0007160]; sensory perception of sound [GO:0007605]

snps:
rs35507522 rs886047837 rs779123206 rs612969 rs779401654 rs111759871 rs146175803 rs520805 rs772606235 rs121909059 rs761524812 rs147890616 rs138768918 rs34963131 rs121909060 rs526433 rs754213928 rs281865415 rs267607107 rs121909061 rs121909061 rs140236996 rs121909058 rs202045605 rs121909063 rs1428598791 rs121909062 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}; Extracellular side {ECO:0000305}. Secreted, extracellular space, extracellular matrix. Note=Found in the non-collagenous matrix of the tectorial membrane. {ECO:0000250}.


uniprotID: Q96PL2
geneSymbol: TECTB
reactome: R-HSA-163125;
name: Beta-tectorin
length: 329
go: ENSG00000119913;
sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; extracellular matrix structural constituent [GO:0005201]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}; Extracellular side {ECO:0000305}. Secreted, extracellular space, extracellular matrix. Note=Found in the non-collagenous matrix of the tectorial membrane. {ECO:0000250}.


uniprotID: P42680
geneSymbol: TEC
reactome: R-HSA-1433557;R-HSA-2871809;R-HSA-512988;
pdb: 2LUL;
name: Tyrosine-protein kinase Tec (EC 2.7.10.2)
length: 631
go: ENSG00000135605;
snps: rs35374286
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; phospholipid binding [GO:0005543]; adaptive immune response [GO:0002250]; B cell receptor signaling pathway [GO:0050853]; cytokine-mediated signaling pathway [GO:0019221]; Fc-epsilon receptor signaling pathway [GO:0038095]; integrin-mediated signaling pathway [GO:0007229]; intracellular signal transduction [GO:0035556]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; protein phosphorylation [GO:0006468]; regulation of platelet activation [GO:0010543]; T cell receptor signaling pathway [GO:0050852]; tissue regeneration [GO:0042246]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Note=Following B-cell or T-cell receptors activation by antigen, translocates to the plasma membrane through its PH domain. Thrombin and integrin engagement induces translocation of TEC to the cytoskeleton during platelet activation. In cardiac myocytes, assumes a diffuse intracellular localization under basal conditions but is recruited to striated structures upon various stimuli, including ATP (By similarity). {ECO:0000250}.


uniprotID: Q86SX3
geneSymbol: TEDC1
name: Tubulin epsilon and delta complex protein 1
length: 495
go: ENSG00000185347;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q86SX3-1; Sequence=Displayed; Name=2; IsoId=Q86SX3-2; Sequence=VSP_033065; Name=3; IsoId=Q86SX3-3; Sequence=VSP_033063, VSP_033065; Name=4; IsoId=Q86SX3-4; Sequence=VSP_033062, VSP_033064, VSP_033066; Name=5; IsoId=Q86SX3-5; Sequence=VSP_045690, VSP_033065; Note=No experimental confirmation available.; Name=6; IsoId=Q86SX3-6; Sequence=VSP_033066; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q7L2K0
geneSymbol: TEDC2
name: Tubulin epsilon and delta complex protein 2
length: 433
go: ENSG00000162062;
snps: rs34948268
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7L2K0-1; Sequence=Displayed; Name=2; IsoId=Q7L2K0-2; Sequence=VSP_025086; Name=3; IsoId=Q7L2K0-3; Sequence=VSP_025086, VSP_025087, VSP_025088; Note=No experimental confirmation available.; 


uniprotID: Q5T9Z0
geneSymbol: TEDDM1
name: Transmembrane epididymal protein 1 (Human epididymis-specific protein 9) (He9)
length: 273
go: ENSG00000203730;
opentargets: integral component of membrane [GO:0016021]
snps: rs6674281
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8IYR6
geneSymbol: TMEFF1
name: Tomoregulin-1 (TR-1) (H7365) (Transmembrane protein with EGF-like and one follistatin-like domain)
length: 380
go: ENSG00000241697;ENSG00000251349;
snps: rs35624603
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; multicellular organism development [GO:0007275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYR6-1; Sequence=Displayed; Name=2; IsoId=Q8IYR6-2; Sequence=VSP_024959; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12743596}; Single-pass type I membrane protein {ECO:0000269|PubMed:12743596}.


uniprotID: Q9UIK5
geneSymbol: TMEFF2
pdb: 2FMW;
length: 374
go: ENSG00000144339;
name:
Tomoregulin-2 (TR-2) (Hyperplastic polyposis protein 1) (Transmembrane protein with EGF-like and two follistatin-like domains)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; negative regulation of cell migration [GO:0030336]; negative regulation of integrin biosynthetic process [GO:0045720]; negative regulation of stress fiber assembly [GO:0051497]; wound healing, spreading of cells [GO:0044319]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UIK5-1; Sequence=Displayed; Name=2; IsoId=Q9UIK5-2; Sequence=VSP_014312, VSP_014313; Name=3; Synonyms=TMEFF2-S; IsoId=Q9UIK5-3; Sequence=VSP_024973, VSP_024974; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Secreted.


uniprotID: Q96QE5
geneSymbol: TEFM
pdb: 5OL8;5OL9;5OLA;
name: Transcription elongation factor, mitochondrial
length: 360
go: ENSG00000172171;
snps: rs2433
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; ribonucleoprotein complex [GO:1990904]; DNA polymerase processivity factor activity [GO:0030337]; RNA binding [GO:0003723]; mitochondrial transcription [GO:0006390]; oxidative phosphorylation [GO:0006119]; transcription elongation from mitochondrial promoter [GO:0006392]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96QE5-1; Sequence=Displayed; Name=2; IsoId=Q96QE5-4; Sequence=VSP_040808, VSP_040809; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:21278163}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:21278163}.


uniprotID: Q10587
geneSymbol: TEF
name: Thyrotroph embryonic factor
length: 303
go: ENSG00000167074;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
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 regulatory region sequence-specific DNA binding [GO:0000977]; regulation of transcription by RNA polymerase II [GO:0006357]; rhythmic process [GO:0048511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q10587-1; Sequence=Displayed; Name=2; IsoId=Q10587-2; Sequence=VSP_041376; Note=No experimental confirmation available.; 


uniprotID: Q969V4
geneSymbol: TEKT1
name: Tektin-1
length: 418
go: ENSG00000167858;
snps: rs34431552 rs3744395 rs2271233
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; nucleus [GO:0005634]; sperm flagellum [GO:0036126]; cilium assembly [GO:0060271]; cilium movement involved in cell motility [GO:0060294]; flagellated sperm motility [GO:0030317]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, flagellum axoneme.


uniprotID: Q9UIF3
geneSymbol: TEKT2
name: Tektin-2 (Tektin-t) (Testicular tektin) (Testicular tektin B1-like protein) (TEKTB1) (Tektin-B1)
length: 430
go: ENSG00000092850;
snps: rs12043423 rs419653
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; sperm flagellum [GO:0036126]; cilium assembly [GO:0060271]; cilium movement involved in cell motility [GO:0060294]; flagellated sperm motility [GO:0030317]; inner dynein arm assembly [GO:0036159]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q922G7}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q922G7}. Cytoplasm, cytoskeleton, microtubule organizing center {ECO:0000250|UniProtKB:Q922G7}. Note=Colocalized with CCDC172 at the perinuclear region. {ECO:0000250|UniProtKB:Q922G7}.


uniprotID: Q9BXF9
geneSymbol: TEKT3
name: Tektin-3
length: 490
go: ENSG00000125409;
snps: rs7226363 rs230898 rs6502446 rs35855709
sequence:

opentargets:
acrosomal membrane [GO:0002080]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; outer acrosomal membrane [GO:0002081]; sperm flagellum [GO:0036126]; cilium assembly [GO:0060271]; cilium movement involved in cell motility [GO:0060294]; flagellated sperm motility [GO:0030317]; regulation of brood size [GO:0060378]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:A6H782, ECO:0000250|UniProtKB:Q4V8G8}. Cytoplasmic vesicle, secretory vesicle, acrosome outer membrane {ECO:0000250|UniProtKB:A6H782, ECO:0000250|UniProtKB:Q4V8G8}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q4V8G8}. Note=In the sperm flagellum, localizes to the periaxonemal region where it associates with the mitochondrial sheath and outer dense fibers (By similarity). Not detected in the central axonemal region of the flagellum (By similarity). Associates with the acrosome membrane in the equatorial segment of the sperm head (By similarity). Also detected just below the plasma membrane in the post-acrosomal region where it might localize to the postacrosomal dense lamina (By similarity). However, other studies report little or no expression in the postacrosomal region (By similarity). Translocates from the postacrosomal region to the equatorial segment after sperm activation (By similarity). Retained in the postacromal region, but not the equatorial segment, following the acrosome reaction (By similarity). Some studies report strong expression in the anterior cap region (By similarity). However, other studies report little or no expression in the acrosomal cap (By similarity). {ECO:0000250|UniProtKB:A6H782, ECO:0000250|UniProtKB:Q4V8G8}.


uniprotID: Q8WW24
geneSymbol: TEKT4
name: Tektin-4
length: 435
go: ENSG00000163060;
snps: rs4854235 rs11164112 rs17802433 rs17120062
sequence:

opentargets:
nucleus [GO:0005634]; sperm flagellum [GO:0036126]; cilium assembly [GO:0060271]; cilium movement involved in cell motility [GO:0060294]; flagellated sperm motility [GO:0030317]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q149S1}. Note=Found in the abaxial (convex) surface of outer dense fibers in sperm flagella. {ECO:0000250|UniProtKB:Q149S1}.


uniprotID: Q96M29
geneSymbol: TEKT5
name: Tektin-5
length: 485
go: ENSG00000153060;
snps: rs16957557 rs16957546 rs17684500 rs2719710
sequence:

opentargets:
nucleus [GO:0005634]; sperm flagellum [GO:0036126]; cilium assembly [GO:0060271]; cilium movement involved in cell motility [GO:0060294]; flagellated sperm motility [GO:0030317]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:G5E8A8}. Note=Appears to be associated with flagellar accessory structures and not the axoneme. {ECO:0000250|UniProtKB:G5E8A8}.


uniprotID: Q9Y4R8
geneSymbol: TELO2
pdb: 4PSI;
name: Telomere length regulation protein TEL2 homolog (Protein clk-2 homolog) (hCLK2)
length: 837
go: ENSG00000100726;
location: SUBCELLULAR LOCATION: Cytoplasm. Membrane. Nucleus. Chromosome, telomere {ECO:0000305}.
sequence:

opentargets:
ASTRA complex [GO:0070209]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; membrane [GO:0016020]; nuclear body [GO:0016604]; nuclear chromosome, telomeric region [GO:0000784]; nuclear periphery [GO:0034399]; nucleus [GO:0005634]; TORC1 complex [GO:0031931]; TORC2 complex [GO:0031932]; Hsp90 protein binding [GO:0051879]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; protein-containing complex scaffold activity [GO:0032947]; telomeric DNA binding [GO:0042162]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of TORC1 signaling [GO:1904263]; positive regulation of TORC2 signaling [GO:1904515]; protein stabilization [GO:0050821]; regulation of TOR signaling [GO:0032006]; telomere maintenance [GO:0000723]

snps:
rs2667661 rs2667660 rs2235624 rs369656775 rs202020308 rs58099766 rs754162070 rs2248128 rs878853271 rs371675497 


uniprotID: O15273
geneSymbol: TCAP
reactome: R-HSA-390522;
pdb: 1YA5;2F8V;
name: Telethonin (Titin cap protein)
length: 167
go: ENSG00000173991;
snps: rs775636212 rs17851031 rs121434298 rs727504427 rs45578741 rs773317399 rs149585781
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:16713295}.
sequence:
MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHETYHQQGQCQVLVQRSPWLMMRMGILGRGLQEYQLPYQRVLPLPIFTPAKMGATKEEREDTPIQLQELLALETALGGQCVDRQEVAEITKQLPPVVPVSKPGALRRSLSRSMSQEAQRG

opentargets:
cytosol [GO:0005829]; I band [GO:0031674]; Z disc [GO:0030018]; BMP binding [GO:0036122]; FATZ binding [GO:0051373]; ion channel binding [GO:0044325]; protein binding, bridging [GO:0030674]; structural constituent of muscle [GO:0008307]; titin binding [GO:0031432]; titin Z domain binding [GO:0070080]; adult heart development [GO:0007512]; cardiac muscle contraction [GO:0060048]; cardiac muscle fiber development [GO:0048739]; cardiac muscle hypertrophy [GO:0003300]; cardiac muscle hypertrophy in response to stress [GO:0014898]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac myofibril assembly [GO:0055003]; detection of mechanical stimulus [GO:0050982]; detection of muscle stretch [GO:0035995]; muscle filament sliding [GO:0030049]; otic vesicle formation [GO:0030916]; protein-containing complex assembly [GO:0065003]; response to muscle stretch [GO:0035994]; sarcomere organization [GO:0045214]; sarcomerogenesis [GO:0048769]; skeletal muscle contraction [GO:0003009]; skeletal muscle myosin thick filament assembly [GO:0030241]; skeletal muscle thin filament assembly [GO:0030240]; somitogenesis [GO:0001756]


uniprotID: Q86WV5
geneSymbol: TEN1
pdb: 4JOI;
length: 123
go: ENSG00000257949;
name:
CST complex subunit TEN1 (Protein telomeric pathways with STN1 homolog) (Telomere length regulation protein TEN1 homolog)

sequence:
MMLPKPGTYYLPWEVSAGQVPDGSTLRTFGRLCLYDMIQSRVTLMAQHGSDQHQVLVCTKLVEPFHAQVGSLYIVLGELQHQQDRGSVVKARVLTCVEGMNLPLLEQAIREQRLYKQERGGSQ

opentargets:
CST complex [GO:1990879]; nuclear chromosome, telomeric region [GO:0000784]; nucleus [GO:0005634]; single-stranded DNA binding [GO:0003697]; telomerase inhibitor activity [GO:0010521]; telomeric DNA binding [GO:0042162]; negative regulation of telomere maintenance via telomerase [GO:0032211]; telomere capping [GO:0016233]

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


uniprotID: Q9UKZ4
geneSymbol: TENM1
length: 2725
go: ENSG00000009694;
snps: rs36065191 rs139486546 rs2213591 rs16999334 rs6649271 rs137882910
name:
Teneurin-1 (Ten-1) (Protein Odd Oz/ten-m homolog 1) (Tenascin-M1) (Ten-m1) (Teneurin transmembrane protein 1) [Cleaved into: Ten-1 intracellular domain (IDten-1) (Ten-1 ICD); Teneurin C-terminal-associated peptide (TCPA-1) (Ten-1 extracellular domain) (Ten-1 ECD)]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; heparin binding [GO:0008201]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; immune response [GO:0006955]; negative regulation of cell proliferation [GO:0008285]; nervous system development [GO:0007399]; neuron development [GO:0048666]; neuropeptide signaling pathway [GO:0007218]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; regulation of transcription by RNA polymerase III [GO:0006359]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKZ4-1; Sequence=Displayed; Name=2; IsoId=Q9UKZ4-2; Sequence=VSP_043356; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Ten-1 intracellular domain: Nucleus {ECO:0000250}. Nucleus speckle {ECO:0000250}. Nucleus matrix {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.; SUBCELLULAR LOCATION: Teneurin C-terminal-associated peptide: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Colocalizes with the dystroglycan complex at the cell membrane in hippocampal cells. Binds hippocampal cell membranes and is incorporated in the cytoplasm by endocytosis in a caveoli-dependent manner. Upon cell internalization is transported arround and in the nucleus (By similarity). {ECO:0000250}.


uniprotID: Q9NT68
geneSymbol: TENM2
length: 2774
go: ENSG00000145934;
snps: rs6862925 rs11957063
name:
Teneurin-2 (Ten-2) (Protein Odd Oz/ten-m homolog 2) (Tenascin-M2) (Ten-m2) (Teneurin transmembrane protein 2) [Cleaved into: Ten-2, soluble form; Ten-2 intracellular domain (Ten-2 ICD)]

sequence:

opentargets:
cell junction [GO:0030054]; cell-cell junction [GO:0005911]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; endoplasmic reticulum [GO:0005783]; filopodium [GO:0030175]; Golgi apparatus [GO:0005794]; growth cone [GO:0030426]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; neuron projection [GO:0043005]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; PML body [GO:0016605]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; calcium ion binding [GO:0005509]; cell adhesion molecule binding [GO:0050839]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; axon guidance [GO:0007411]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cell-cell adhesion [GO:0098609]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron development [GO:0048666]; positive regulation of filopodium assembly [GO:0051491]; retrograde trans-synaptic signaling by trans-synaptic protein complex [GO:0098942]; self proteolysis [GO:0097264]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NT68-1; Sequence=Displayed; Name=2; Synonyms=Lasso, LPH1-associated synaptic surface organizer; IsoId=Q9NT68-2; Sequence=VSP_045019, VSP_045020, VSP_045021, VSP_045022; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}. Golgi apparatus {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Cell projection, filopodium {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Note=Colocalizes with ADGRL1 across intercellular junctions. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane. Note=Colocalizes with ADGRL1 across intercellular junctions.; SUBCELLULAR LOCATION: Ten-2 intracellular domain: Nucleus, PML body {ECO:0000250}.


uniprotID: Q9P273
geneSymbol: TENM3
length: 2699
go: ENSG00000218336;
snps: rs3749509
name:
Teneurin-3 (Ten-3) (Protein Odd Oz/ten-m homolog 3) (Tenascin-M3) (Ten-m3) (Teneurin transmembrane protein 3)

sequence:

opentargets:
axon [GO:0030424]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; neuron projection [GO:0043005]; cell adhesion molecule binding [GO:0050839]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; camera-type eye morphogenesis [GO:0048593]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; neuron development [GO:0048666]; positive regulation of neuron projection development [GO:0010976]; regulation of homophilic cell adhesion [GO:1903385]; self proteolysis [GO:0097264]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9WTS6}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q9WTS6}. Cell projection, axon {ECO:0000250|UniProtKB:Q9WTS6}.


