TCF15_HUMAN
ID TCF15_HUMAN Reviewed; 199 AA.
AC Q12870; Q9NQQ1;
DT 25-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 3.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Transcription factor 15 {ECO:0000250|UniProtKB:Q60756};
DE Short=TCF-15 {ECO:0000250|UniProtKB:Q60756};
DE AltName: Full=Class A basic helix-loop-helix protein 40 {ECO:0000305};
DE Short=bHLHa40 {ECO:0000312|HGNC:HGNC:11627};
DE AltName: Full=Paraxis {ECO:0000250|UniProtKB:Q60756};
DE AltName: Full=Protein bHLH-EC2 {ECO:0000303|PubMed:8041747};
GN Name=TCF15 {ECO:0000312|HGNC:HGNC:11627};
GN Synonyms=BHLHA40 {ECO:0000312|HGNC:HGNC:11627},
GN BHLHEC2 {ECO:0000303|PubMed:8041747};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Umbilical vein;
RX PubMed=8041747; DOI=10.1073/pnas.91.15.7066;
RA Quertermous E.E., Hidai H., Blanar M.A., Quertermous T.;
RT "Cloning and characterization of a basic helix-loop-helix protein expressed
RT in early mesoderm and the developing somites.";
RL Proc. Natl. Acad. Sci. U.S.A. 91:7066-7070(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
CC -!- FUNCTION: Early transcription factor that plays a key role in
CC somitogenesis, paraxial mesoderm development and regulation of stem
CC cell pluripotency. Essential for the mesenchymal to epithelial
CC transition associated with somite formation. Required for somite
CC morphogenesis, thereby regulating patterning of the axial skeleton and
CC skeletal muscles. Required for proper localization of somite epithelium
CC markers during the mesenchymal to epithelial transition. Also plays a
CC key role in regulation of stem cell pluripotency. Promotes pluripotency
CC exit of embryonic stem cells (ESCs) by priming ESCs for
CC differentiation. Acts as a key regulator of self-renewal of
CC hematopoietic stem cells (HSCs) by mediating HSCs quiescence and long-
CC term self-renewal. Together with MEOX2, regulates transcription in
CC heart endothelial cells to regulate fatty acid transport across heart
CC endothelial cells. Acts by forming a heterodimer with another helix-
CC loop-helix (bHLH) protein, such as TCF3/E12, that binds DNA on E-box
CC motifs (5'-CANNTG-3') and activates transcription of target genes.
CC {ECO:0000250|UniProtKB:Q60756}.
CC -!- SUBUNIT: Heterodimer; efficient DNA binding requires dimerization with
CC another bHLH protein, such as TCF3/E12. Interacts with MEOX2.
CC {ECO:0000250|UniProtKB:Q60756}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q60756,
CC ECO:0000255|PROSITE-ProRule:PRU00981}.
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DR EMBL; U08336; AAA19969.1; -; mRNA.
DR EMBL; AL133231; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS33432.1; -.
DR PIR; A57717; A57717.
DR RefSeq; NP_004600.2; NM_004609.3.
DR AlphaFoldDB; Q12870; -.
DR SMR; Q12870; -.
DR BioGRID; 112799; 23.
DR IntAct; Q12870; 1.
DR STRING; 9606.ENSP00000246080; -.
DR iPTMnet; Q12870; -.
DR PhosphoSitePlus; Q12870; -.
DR BioMuta; TCF15; -.
DR DMDM; 116242817; -.
DR MassIVE; Q12870; -.
DR PaxDb; Q12870; -.
DR PeptideAtlas; Q12870; -.
DR PRIDE; Q12870; -.
DR Antibodypedia; 6289; 108 antibodies from 21 providers.
DR DNASU; 6939; -.
DR Ensembl; ENST00000246080.4; ENSP00000246080.3; ENSG00000125878.7.
DR GeneID; 6939; -.
DR KEGG; hsa:6939; -.
DR MANE-Select; ENST00000246080.4; ENSP00000246080.3; NM_004609.4; NP_004600.3.
DR UCSC; uc002wdz.4; human.
DR CTD; 6939; -.
DR DisGeNET; 6939; -.
DR GeneCards; TCF15; -.
DR HGNC; HGNC:11627; TCF15.
DR HPA; ENSG00000125878; Tissue enhanced (heart muscle, skeletal muscle, tongue).
DR MIM; 601010; gene.
DR neXtProt; NX_Q12870; -.
DR OpenTargets; ENSG00000125878; -.
DR PharmGKB; PA36382; -.
DR VEuPathDB; HostDB:ENSG00000125878; -.
DR eggNOG; KOG4029; Eukaryota.
DR GeneTree; ENSGT00940000161320; -.
DR InParanoid; Q12870; -.
DR OMA; HPFSYPA; -.
DR OrthoDB; 1511100at2759; -.
DR PhylomeDB; Q12870; -.
DR TreeFam; TF315153; -.
DR PathwayCommons; Q12870; -.
DR SignaLink; Q12870; -.
DR BioGRID-ORCS; 6939; 12 hits in 1096 CRISPR screens.
DR ChiTaRS; TCF15; human.
DR GenomeRNAi; 6939; -.
DR Pharos; Q12870; Tbio.
DR PRO; PR:Q12870; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q12870; protein.
DR Bgee; ENSG00000125878; Expressed in heart right ventricle and 137 other tissues.
DR Genevisible; Q12870; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0090575; C:RNA polymerase II transcription regulator complex; IEA:Ensembl.
DR GO; GO:0043425; F:bHLH transcription factor binding; IEA:Ensembl.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISS:UniProtKB.
DR GO; GO:0070888; F:E-box binding; ISS:UniProtKB.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0032502; P:developmental process; IBA:GO_Central.
DR GO; GO:0043583; P:ear development; IEA:Ensembl.
DR GO; GO:0045198; P:establishment of epithelial cell apical/basal polarity; IEA:Ensembl.
DR GO; GO:0060231; P:mesenchymal to epithelial transition; IEA:Ensembl.
DR GO; GO:0007498; P:mesoderm development; TAS:ProtInc.
DR GO; GO:0048644; P:muscle organ morphogenesis; IEA:Ensembl.
DR GO; GO:1902037; P:negative regulation of hematopoietic stem cell differentiation; ISS:UniProtKB.
DR GO; GO:0050884; P:neuromuscular process controlling posture; IEA:Ensembl.
DR GO; GO:0048339; P:paraxial mesoderm development; IEA:Ensembl.
DR GO; GO:2000738; P:positive regulation of stem cell differentiation; ISS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:UniProtKB.
DR GO; GO:0036342; P:post-anal tail morphogenesis; IEA:Ensembl.
DR GO; GO:1903053; P:regulation of extracellular matrix organization; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0003016; P:respiratory system process; IEA:Ensembl.
DR GO; GO:0048705; P:skeletal system morphogenesis; IEA:Ensembl.
DR GO; GO:0001756; P:somitogenesis; IEA:Ensembl.
DR GO; GO:0019827; P:stem cell population maintenance; ISS:UniProtKB.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 2: Evidence at transcript level;
KW Activator; Developmental protein; Differentiation; DNA-binding; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..199
FT /note="Transcription factor 15"
FT /id="PRO_0000127460"
FT DOMAIN 72..124
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 25..67
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 114
FT /note="V -> L (in Ref. 1; AAA19969)"
FT /evidence="ECO:0000305"
FT CONFLICT 155..158
FT /note="ADGG -> PTR (in Ref. 1; AAA19969)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 199 AA; 20816 MW; A3BF546A24ACF68A CRC64;
MAFALLRPVG AHVLYPDVRL LSEDEENRSE SDASDQSFGC CEGPEAARRG PGPGGGRRAG
GGGGAGPVVV VRQRQAANAR ERDRTQSVNT AFTALRTLIP TEPVDRKLSK IETVRLASSY
IAHLANVLLL GDSADDGQPC FRAAGSAKGA VPAAADGGRQ PRSICTFCLS NQRKGGGRRD
LGGSCLKVRG VAPLRGPRR
