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   24-JAN-2024, entry version 146.
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; 9606-ENSP00000480998; -.
DR   PeptideAtlas; Q8NDY6; -.
DR   ProteomicsDB; 73092; -.
DR   Antibodypedia; 29641; 26 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   AGR; HGNC:16093; -.
DR   CTD; 128408; -.
DR   DisGeNET; 128408; -.
DR   GeneCards; BHLHE23; -.
DR   HGNC; HGNC:16093; BHLHE23.
DR   HPA; ENSG00000125533; Not detected.
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; 5324482at2759; -.
DR   PhylomeDB; Q8NDY6; -.
DR   TreeFam; TF322733; -.
DR   PathwayCommons; Q8NDY6; -.
DR   SignaLink; Q8NDY6; -.
DR   BioGRID-ORCS; 128408; 5 hits in 358 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 cell types or tissues.
DR   ExpressionAtlas; Q8NDY6; baseline and differential.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0003700; F:DNA-binding transcription factor activity; IBA:GO_Central.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR   GO; GO:0070888; F:E-box binding; IBA:GO_Central.
DR   GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR   GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR   GO; GO:0061564; P:axon development; IBA:GO_Central.
DR   GO; GO:0048663; P:neuron fate commitment; IBA:GO_Central.
DR   GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   GO; GO:0007423; P:sensory organ development; IBA:GO_Central.
DR   CDD; cd18953; bHLH_TS_bHLHe23_bHLHb4; 1.
DR   Gene3D; 4.10.280.10; Helix-loop-helix DNA-binding domain; 1.
DR   InterPro; IPR011598; bHLH_dom.
DR   InterPro; IPR036638; HLH_DNA-bd_sf.
DR   PANTHER; PTHR19290; BASIC HELIX-LOOP-HELIX PROTEIN NEUROGENIN-RELATED; 1.
DR   PANTHER; PTHR19290:SF53; CLASS E BASIC HELIX-LOOP-HELIX PROTEIN 23; 1.
DR   Pfam; PF00010; HLH; 1.
DR   SMART; SM00353; HLH; 1.
DR   SUPFAM; SSF47459; HLH, helix-loop-helix DNA-binding domain; 1.
DR   PROSITE; PS50888; BHLH; 1.
DR   Genevisible; Q8NDY6; HS.
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
//