TCF23_HUMAN
ID TCF23_HUMAN Reviewed; 214 AA.
AC Q7RTU1; B2RNZ3;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-DEC-2003, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Transcription factor 23;
DE Short=TCF-23;
DE AltName: Full=Class A basic helix-loop-helix protein 24;
DE Short=bHLHa24;
GN Name=TCF23; Synonyms=BHLHA24;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP IDENTIFICATION, AND TISSUE SPECIFICITY.
RX PubMed=14516699; DOI=10.1016/s0925-4773(03)00130-8;
RA McLellan A.S., Langlands K., Kealey T.;
RT "Exhaustive identification of human class II basic helix-loop-helix
RT proteins by virtual library screening.";
RL Mech. Dev. 119:S285-S291(2002).
CC -!- FUNCTION: Inhibits E-box-mediated binding and transactivation of bHLH
CC factors. Inhibitory effect is similar to that of ID proteins. Inhibits
CC the formation of TCF3 and MYOD1 homodimers and heterodimers. Lacks DNA
CC binding activity. Seems to play a role in the inhibition of myogenesis
CC (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Forms inactive heterodimeric complexes with TCF3.
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q7RTU1; P50402: EMD; NbExp=3; IntAct=EBI-12127592, EBI-489887;
CC Q7RTU1; Q6QHK4: FIGLA; NbExp=3; IntAct=EBI-12127592, EBI-11976617;
CC Q7RTU1; P61978-2: HNRNPK; NbExp=3; IntAct=EBI-12127592, EBI-7060731;
CC Q7RTU1; Q99081-3: TCF12; NbExp=3; IntAct=EBI-12127592, EBI-11952764;
CC Q7RTU1; P15884-3: TCF4; NbExp=3; IntAct=EBI-12127592, EBI-13636688;
CC Q7RTU1; P26368-2: U2AF2; NbExp=3; IntAct=EBI-12127592, EBI-11097439;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
CC -!- TISSUE SPECIFICITY: Expressed in liver, kidney and spleen.
CC {ECO:0000269|PubMed:14516699}.
CC -!- DOMAIN: Both the bHLH region and the C-terminal portion are essential
CC for inhibitory function. {ECO:0000250}.
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DR EMBL; AC013403; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC137191; AAI37192.1; -; mRNA.
DR EMBL; BC137192; AAI37193.1; -; mRNA.
DR EMBL; BK000143; DAA00305.1; -; Genomic_DNA.
DR CCDS; CCDS33163.1; -.
DR RefSeq; NP_786951.1; NM_175769.2.
DR AlphaFoldDB; Q7RTU1; -.
DR SMR; Q7RTU1; -.
DR BioGRID; 127330; 11.
DR IntAct; Q7RTU1; 6.
DR STRING; 9606.ENSP00000296096; -.
DR iPTMnet; Q7RTU1; -.
DR PhosphoSitePlus; Q7RTU1; -.
DR BioMuta; TCF23; -.
DR DMDM; 74749939; -.
DR MassIVE; Q7RTU1; -.
DR PaxDb; Q7RTU1; -.
DR PeptideAtlas; Q7RTU1; -.
DR PRIDE; Q7RTU1; -.
DR ProteomicsDB; 68905; -.
DR Antibodypedia; 47343; 27 antibodies from 12 providers.
DR DNASU; 150921; -.
DR Ensembl; ENST00000296096.6; ENSP00000296096.5; ENSG00000163792.6.
DR GeneID; 150921; -.
DR KEGG; hsa:150921; -.
DR MANE-Select; ENST00000296096.6; ENSP00000296096.5; NM_175769.3; NP_786951.1.
DR UCSC; uc010ylg.3; human.
DR CTD; 150921; -.
DR GeneCards; TCF23; -.
DR HGNC; HGNC:18602; TCF23.
DR HPA; ENSG00000163792; Group enriched (endometrium, fallopian tube, ovary, smooth muscle).
DR MIM; 609635; gene.
DR neXtProt; NX_Q7RTU1; -.
DR PharmGKB; PA38359; -.
DR VEuPathDB; HostDB:ENSG00000163792; -.
DR eggNOG; KOG4029; Eukaryota.
DR GeneTree; ENSGT00940000161395; -.
DR HOGENOM; CLU_101416_1_0_1; -.
DR InParanoid; Q7RTU1; -.
DR OMA; RTRQDLW; -.
DR OrthoDB; 1462533at2759; -.
DR PhylomeDB; Q7RTU1; -.
DR TreeFam; TF350742; -.
DR PathwayCommons; Q7RTU1; -.
DR SignaLink; Q7RTU1; -.
DR BioGRID-ORCS; 150921; 11 hits in 1085 CRISPR screens.
DR GenomeRNAi; 150921; -.
DR Pharos; Q7RTU1; Tbio.
DR PRO; PR:Q7RTU1; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q7RTU1; protein.
DR Bgee; ENSG00000163792; Expressed in body of uterus and 44 other tissues.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0000791; C:euchromatin; ISS:ARUK-UCL.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
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:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; ISS:ARUK-UCL.
DR GO; GO:0140416; F:transcription regulator inhibitor activity; ISS:ARUK-UCL.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0046697; P:decidualization; IMP:MGI.
DR GO; GO:0032502; P:developmental process; IBA:GO_Central.
DR GO; GO:0007517; P:muscle organ development; IEA:UniProtKB-KW.
DR GO; GO:0051148; P:negative regulation of muscle cell differentiation; ISS:ARUK-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:ARUK-UCL.
DR GO; GO:0010628; P:positive regulation of gene expression; IMP:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
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 1: Evidence at protein level;
KW Developmental protein; Differentiation; Myogenesis; Nucleus;
KW Reference proteome.
FT CHAIN 1..214
FT /note="Transcription factor 23"
FT /id="PRO_0000315820"
FT DOMAIN 76..128
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 1..86
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 174..214
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 27..50
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 174..189
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 25
FT /note="R -> Q (in dbSNP:rs11126879)"
FT /id="VAR_038325"
FT VARIANT 40
FT /note="T -> S (in dbSNP:rs4502371)"
FT /id="VAR_038326"
SQ SEQUENCE 214 AA; 23309 MW; 5D1408A9BFFEE339 CRC64;
MSQRKARGPP AMPGVGHSQT QAKARLLPGA DRKRSRLSRT RQDPWEERSW SNQRWSRATP
GPRGTRAGGL ALGRSEASPE NAARERSRVR TLRQAFLALQ AALPAVPPDT KLSKLDVLVL
AASYIAHLTR TLGHELPGPA WPPFLRGLRY LHPLKKWPMR SRLYAGGLGY SDLDSTTAST
PSQRTRDAEV GSQVPGEADA LLSTTPLSPA LGDK
