BHE23_HUMAN
ID BHE23_HUMAN Reviewed; 225 AA.
AC Q8NDY6; B2RP69;
DT 11-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Class E basic helix-loop-helix protein 23;
DE Short=bHLHe23;
DE AltName: Full=Class B basic helix-loop-helix protein 4;
DE Short=bHLHb4;
GN Name=BHLHE23; Synonyms=BHLHB4;
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=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).
RN [2]
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 [3]
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 [4]
RP IDENTIFICATION.
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: May function as transcriptional repressor. May modulate the
CC expression of genes required for the differentiation and/or maintenance
CC of pancreatic and neuronal cell types. May be important for rod bipolar
CC cell maturation (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q8NDY6; O76011: KRT34; NbExp=3; IntAct=EBI-12144263, EBI-1047093;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
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DR EMBL; AL121673; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW75311.1; -; Genomic_DNA.
DR EMBL; BC137288; AAI37289.1; -; mRNA.
DR EMBL; BC137308; AAI37309.1; -; mRNA.
DR EMBL; BK000274; DAA01054.1; -; mRNA.
DR RefSeq; NP_542173.2; NM_080606.3.
DR AlphaFoldDB; Q8NDY6; -.
DR SMR; Q8NDY6; -.
DR BioGRID; 126119; 20.
DR IntAct; Q8NDY6; 1.
DR STRING; 9606.ENSP00000480998; -.
DR iPTMnet; Q8NDY6; -.
DR PhosphoSitePlus; Q8NDY6; -.
DR BioMuta; BHLHE23; -.
DR DMDM; 74751238; -.
DR MassIVE; Q8NDY6; -.
DR PaxDb; Q8NDY6; -.
DR PeptideAtlas; Q8NDY6; -.
DR PRIDE; Q8NDY6; -.
DR ProteomicsDB; 73092; -.
DR Antibodypedia; 29641; 21 antibodies from 13 providers.
DR DNASU; 128408; -.
DR Ensembl; ENST00000370346.2; ENSP00000359371.2; ENSG00000125533.6.
DR GeneID; 128408; -.
DR KEGG; hsa:128408; -.
DR UCSC; uc061ykj.1; human.
DR CTD; 128408; -.
DR DisGeNET; 128408; -.
DR GeneCards; BHLHE23; -.
DR HGNC; HGNC:16093; BHLHE23.
DR HPA; ENSG00000125533; Tissue enriched (brain).
DR MIM; 609331; gene.
DR neXtProt; NX_Q8NDY6; -.
DR OpenTargets; ENSG00000125533; -.
DR PharmGKB; PA164716615; -.
DR VEuPathDB; HostDB:ENSG00000125533; -.
DR eggNOG; KOG3898; Eukaryota.
DR GeneTree; ENSGT00940000162992; -.
DR HOGENOM; CLU_070971_2_0_1; -.
DR InParanoid; Q8NDY6; -.
DR OrthoDB; 1617813at2759; -.
DR PhylomeDB; Q8NDY6; -.
DR TreeFam; TF322733; -.
DR PathwayCommons; Q8NDY6; -.
DR SignaLink; Q8NDY6; -.
DR BioGRID-ORCS; 128408; 5 hits in 296 CRISPR screens.
DR ChiTaRS; BHLHE23; human.
DR GenomeRNAi; 128408; -.
DR Pharos; Q8NDY6; Tdark.
DR PRO; PR:Q8NDY6; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q8NDY6; protein.
DR Bgee; ENSG00000125533; Expressed in ganglionic eminence and 3 other tissues.
DR ExpressionAtlas; Q8NDY6; baseline and differential.
DR Genevisible; Q8NDY6; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
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:0000978; F:RNA polymerase II cis-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:0048468; P:cell development; IEA:InterPro.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
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; IPR032662; Bhlhe23.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR PANTHER; PTHR19290:SF53; PTHR19290:SF53; 1.
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..225
FT /note="Class E basic helix-loop-helix protein 23"
FT /id="PRO_0000245526"
FT DOMAIN 100..154
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 35..104
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 72..104
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 225 AA; 23665 MW; 77B5720A3CE42E85 CRC64;
MAELKSLSGD AYLALSHGYA AAAAGLAYGA AREPEAARGY GTPGPGGDLP AAPAPRAPAQ
AAESSGEQSG DEDDAFEQRR RRRGPGSAAD GRRRPREQRS LRLSINARER RRMHDLNDAL
DGLRAVIPYA HSPSVRKLSK IATLLLAKNY ILMQAQALDE MRRLVAFLNQ GQGLAAPVNA
APLTPFGQAT VCPFSAGAAL GPCPDKCAAF SGTPSALCKH CHEKP
