TCF21_HUMAN
ID TCF21_HUMAN Reviewed; 179 AA.
AC O43680; E1P581; O43545; Q6ICV0; Q9BZ14;
DT 14-AUG-2001, integrated into UniProtKB/Swiss-Prot.
DT 14-AUG-2001, sequence version 2.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Transcription factor 21;
DE Short=TCF-21;
DE AltName: Full=Capsulin;
DE AltName: Full=Class A basic helix-loop-helix protein 23;
DE Short=bHLHa23;
DE AltName: Full=Epicardin;
DE AltName: Full=Podocyte-expressed 1;
DE Short=Pod-1;
GN Name=TCF21; Synonyms=BHLHA23, POD1;
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=Placenta;
RX PubMed=9733105;
RX DOI=10.1002/(sici)1097-0177(199809)213:1<105::aid-aja10>3.0.co;2-1;
RA Robb L., Mifsud L., Hartley L., Biben C., Copeland N.G., Gilbert D.J.,
RA Jenkins N.A., Harvey R.P.;
RT "Epicardin: a novel basic helix-loop-helix transcription factor gene
RT expressed in epicardium, branchial arch myoblasts, and mesenchyme of
RT developing lung, gut, kidney, and gonads.";
RL Dev. Dyn. 213:105-113(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10572052; DOI=10.1242/dev.126.24.5771;
RA Quaggin S.E., Schwartz L., Cui S., Igarashi P., Deimling J., Post M.,
RA Rossant J.;
RT "The basic-helix-loop-helix protein pod1 is critically important for kidney
RT and lung organogenesis.";
RL Development 126:5771-5783(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
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).
CC -!- FUNCTION: Involved in epithelial-mesenchymal interactions in kidney and
CC lung morphogenesis that include epithelial differentiation and
CC branching morphogenesis. May play a role in the specification or
CC differentiation of one or more subsets of epicardial cell types.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein. Forms a heterodimer with TCF3 and binds the E box (5'-CANNTG-
CC 3').
CC -!- INTERACTION:
CC O43680; P05067: APP; NbExp=3; IntAct=EBI-723267, EBI-77613;
CC O43680; P15172: MYOD1; NbExp=3; IntAct=EBI-723267, EBI-488878;
CC O43680; O00560: SDCBP; NbExp=3; IntAct=EBI-723267, EBI-727004;
CC O43680; Q99081-3: TCF12; NbExp=3; IntAct=EBI-723267, EBI-11952764;
CC -!- SUBCELLULAR LOCATION: Nucleus.
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DR EMBL; AF047419; AAC62532.1; -; mRNA.
DR EMBL; AF035718; AAC62514.1; -; mRNA.
DR EMBL; BT019660; AAV38466.1; -; mRNA.
DR EMBL; CR450293; CAG29289.1; -; mRNA.
DR EMBL; AL356109; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48000.1; -; Genomic_DNA.
DR EMBL; CH471051; EAW48001.1; -; Genomic_DNA.
DR EMBL; BC025697; AAH25697.1; -; mRNA.
DR CCDS; CCDS5167.1; -.
DR RefSeq; NP_003197.2; NM_003206.3.
DR RefSeq; NP_938206.1; NM_198392.2.
DR AlphaFoldDB; O43680; -.
DR SMR; O43680; -.
DR BioGRID; 112803; 12.
DR IntAct; O43680; 15.
DR MINT; O43680; -.
DR STRING; 9606.ENSP00000356857; -.
DR iPTMnet; O43680; -.
DR PhosphoSitePlus; O43680; -.
DR BioMuta; TCF21; -.
DR jPOST; O43680; -.
DR MassIVE; O43680; -.
DR PaxDb; O43680; -.
DR PeptideAtlas; O43680; -.
DR PRIDE; O43680; -.
DR ProteomicsDB; 49110; -.
DR Antibodypedia; 19727; 161 antibodies from 23 providers.
DR DNASU; 6943; -.
DR Ensembl; ENST00000237316.3; ENSP00000237316.3; ENSG00000118526.7.
DR Ensembl; ENST00000367882.5; ENSP00000356857.5; ENSG00000118526.7.
DR GeneID; 6943; -.
DR KEGG; hsa:6943; -.
DR MANE-Select; ENST00000367882.5; ENSP00000356857.5; NM_003206.4; NP_003197.2.
DR UCSC; uc003qei.5; human.
DR CTD; 6943; -.
DR DisGeNET; 6943; -.
DR GeneCards; TCF21; -.
DR HGNC; HGNC:11632; TCF21.
DR HPA; ENSG00000118526; Tissue enhanced (lymphoid tissue, ovary, placenta).
DR MIM; 603306; gene.
DR neXtProt; NX_O43680; -.
DR OpenTargets; ENSG00000118526; -.
DR PharmGKB; PA36387; -.
DR VEuPathDB; HostDB:ENSG00000118526; -.
DR eggNOG; KOG4029; Eukaryota.
DR GeneTree; ENSGT00940000160174; -.
DR HOGENOM; CLU_092663_0_0_1; -.
DR InParanoid; O43680; -.
DR OMA; CEGPCAN; -.
DR OrthoDB; 1374128at2759; -.
DR PhylomeDB; O43680; -.
DR TreeFam; TF350742; -.
DR PathwayCommons; O43680; -.
DR SignaLink; O43680; -.
DR BioGRID-ORCS; 6943; 10 hits in 1092 CRISPR screens.
DR GeneWiki; TCF21_(gene); -.
DR GenomeRNAi; 6943; -.
DR Pharos; O43680; Tbio.
DR PRO; PR:O43680; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; O43680; protein.
DR Bgee; ENSG00000118526; Expressed in right lung and 113 other tissues.
DR Genevisible; O43680; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl.
DR GO; GO:0043425; F:bHLH transcription factor binding; IPI:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; ISS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:UniProtKB.
DR GO; GO:0070888; F:E-box binding; ISS:BHF-UCL.
DR GO; GO:0042826; F:histone deacetylase binding; IEA:Ensembl.
DR GO; GO:0050681; F:nuclear androgen receptor binding; ISS:BHF-UCL.
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:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; ISS:BHF-UCL.
DR GO; GO:0014707; P:branchiomeric skeletal muscle development; ISS:UniProtKB.
DR GO; GO:0060435; P:bronchiole development; ISS:UniProtKB.
DR GO; GO:0032502; P:developmental process; IBA:GO_Central.
DR GO; GO:0060539; P:diaphragm development; ISS:UniProtKB.
DR GO; GO:0048557; P:embryonic digestive tract morphogenesis; ISS:UniProtKB.
DR GO; GO:0030855; P:epithelial cell differentiation; ISS:UniProtKB.
DR GO; GO:0048732; P:gland development; ISS:UniProtKB.
DR GO; GO:0032835; P:glomerulus development; ISS:UniProtKB.
DR GO; GO:0001822; P:kidney development; ISS:BHF-UCL.
DR GO; GO:0048286; P:lung alveolus development; ISS:UniProtKB.
DR GO; GO:0060425; P:lung morphogenesis; ISS:UniProtKB.
DR GO; GO:0060426; P:lung vasculature development; ISS:UniProtKB.
DR GO; GO:0072277; P:metanephric glomerular capillary formation; ISS:UniProtKB.
DR GO; GO:0072162; P:metanephric mesenchymal cell differentiation; ISS:UniProtKB.
DR GO; GO:0001763; P:morphogenesis of a branching structure; ISS:BHF-UCL.
DR GO; GO:0060766; P:negative regulation of androgen receptor signaling pathway; ISS:BHF-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0048608; P:reproductive structure development; ISS:UniProtKB.
DR GO; GO:0060541; P:respiratory system development; ISS:UniProtKB.
DR GO; GO:0060021; P:roof of mouth development; ISS:UniProtKB.
DR GO; GO:0060008; P:Sertoli cell differentiation; ISS:UniProtKB.
DR GO; GO:0007530; P:sex determination; ISS:UniProtKB.
DR GO; GO:0048536; P:spleen development; ISS:UniProtKB.
DR GO; GO:0001657; P:ureteric bud development; ISS:BHF-UCL.
DR GO; GO:0001944; P:vasculature development; ISS:BHF-UCL.
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 DNA-binding; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..179
FT /note="Transcription factor 21"
FT /id="PRO_0000127464"
FT DOMAIN 79..131
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 20..87
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 28..49
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 67..81
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 61
FT /note="K -> R (in Ref. 2; AAC62514)"
FT /evidence="ECO:0000305"
FT CONFLICT 83
FT /note="A -> T (in Ref. 1; AAC62532)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 179 AA; 19715 MW; A26F496C536B6F04 CRC64;
MSTGSLSDVE DLQEVEMLEC DGLKMDSNKE FVTSNESTEE SSNCENGSPQ KGRGGLGKRR
KAPTKKSPLS GVSQEGKQVQ RNAANARERA RMRVLSKAFS RLKTTLPWVP PDTKLSKLDT
LRLASSYIAH LRQILANDKY ENGYIHPVNL TWPFMVAGKP ESDLKEVVTA SRLCGTTAS