LOCUS       NM_080606               1038 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens basic helix-loop-helix family member e23 (BHLHE23),
            mRNA.
ACCESSION   NM_080606
VERSION     NM_080606.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1038)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1038)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1038)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   4  (bases 1 to 1038)
  AUTHORS   Liu,A., Wang,Y., Zhang,D., Wang,X., Song,H., Dang,C., Yao,Q. and
            Chen,K.
  TITLE     Classification and evolutionary analysis of the basic
            helix-loop-helix gene family in the green anole lizard, Anolis
            carolinensis
  JOURNAL   Mol Genet Genomics 288 (7-8), 365-380 (2013)
   PUBMED   23756994
REFERENCE   5  (bases 1 to 1038)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   6  (bases 1 to 1038)
  AUTHORS   Stevens,J.D., Roalson,E.H. and Skinner,M.K.
  TITLE     Phylogenetic and expression analysis of the basic helix-loop-helix
            transcription factor gene family: genomic approach to cellular
            differentiation
  JOURNAL   Differentiation 76 (9), 1006-1022 (2008)
   PUBMED   18557763
REFERENCE   7  (bases 1 to 1038)
  AUTHORS   Bramblett,D.E., Pennesi,M.E., Wu,S.M. and Tsai,M.J.
  TITLE     The transcription factor Bhlhb4 is required for rod bipolar cell
            maturation
  JOURNAL   Neuron 43 (6), 779-793 (2004)
   PUBMED   15363390
  REMARK    GeneRIF: Knockout mouse retinal dysfunction resembles human
            congenital stationary night blindness.
REFERENCE   8  (bases 1 to 1038)
  AUTHORS   McLellan,A.S., Langlands,K. and Kealey,T.
  TITLE     Exhaustive identification of human class II basic helix-loop-helix
            proteins by virtual library screening
  JOURNAL   Mech Dev 119 Suppl 1, S285-S291 (2002)
   PUBMED   14516699
REFERENCE   9  (bases 1 to 1038)
  AUTHORS   Bramblett,D.E., Copeland,N.G., Jenkins,N.A. and Tsai,M.J.
  TITLE     BHLHB4 is a bHLH transcriptional regulator in pancreas and brain
            that marks the dimesencephalic boundary
  JOURNAL   Genomics 79 (3), 402-412 (2002)
   PUBMED   11863370
  REMARK    GeneRIF: Mouse Bhlhe23 can function as a transcriptional repressor.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC137288.1 and AL121673.41.
            
            On May 17, 2019 this sequence version replaced NM_080606.3.
            
            Summary: This gene encodes a member of the basic helix-loop-helix
            transcription factor family. Members of this family contain two
            highly conserved and functionally distinct domains: the basic
            domain targets sequence-specific DNA binding, while the
            helix-loop-helix domain facilitates protein interaction. Studies of
            a related gene in mouse suggest that the encoded protein may
            function as a transcriptional repressor in the pancreas and brain,
            and that it is required for normal retinal function. [provided by
            RefSeq, May 2013].
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC137288.1, BK000274.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000612929.2/ ENSP00000480998.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-986               BC137288.1         72-1057
            987-1038            AL121673.41        66544-66595         c
FEATURES             Location/Qualifiers
     source          1..1038
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     gene            1..1038
                     /gene="BHLHE23"
                     /gene_synonym="bA305P22.3; Beta3b; BETA4; BHLHB4"
                     /note="basic helix-loop-helix family member e23"
                     /db_xref="GeneID:128408"
                     /db_xref="HGNC:HGNC:16093"
                     /db_xref="MIM:609331"
     exon            1..1038
                     /gene="BHLHE23"
                     /gene_synonym="bA305P22.3; Beta3b; BETA4; BHLHB4"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..916
                     /gene="BHLHE23"
                     /gene_synonym="bA305P22.3; Beta3b; BETA4; BHLHB4"
                     /note="basic helix-loop-helix domain containing, class B,
                     4; class B basic helix-loop-helix protein 4"
                     /codon_start=1
                     /product="class E basic helix-loop-helix protein 23"
                     /protein_id="NP_542173.2"
                     /db_xref="CCDS:CCDS33507.2"
                     /db_xref="GeneID:128408"
                     /db_xref="HGNC:HGNC:16093"
                     /db_xref="MIM:609331"
                     /translation="MSIRPPGEPPSPGGAAMAELKSLSGDAYLALSHGYAAAAAGLAY
                     GAAREPEAARGYGTPGPGGDLPAAPAPRAPAQAAESSGEQSGDEDDAFEQRRRRRGPG
                     SAADGRRRPREQRSLRLSINARERRRMHDLNDALDGLRAVIPYAHSPSVRKLSKIATL
                     LLAKNYILMQAQALDEMRRLVAFLNQGQGLAAPVNAAPLTPFGQATVCPFSAGAALGP
                     CPDKCAAFSGTPSALCKHCHEKP"
ORIGIN      
        1 agagcccgcc ccctgcgcgt cgcggctggg agggagagga ggtgggagag aaggaagagg
       61 cggaggaggc agcgggcgcc gaggctctgg gacccgcagg caagccagac cgacgcgcag
      121 agccgggagc ctcatcgcag cggcagcggc agcggcgggc tcgggccggc ctcgggggct
      181 gctcacccac atgagcatcc gcccacccgg cgagcccccg agcccaggcg gcgcggccat
      241 ggccgagctc aagtcgctgt cgggggacgc gtacctggca ctaagccacg gctacgcggc
      301 ggcggctgcg ggtctcgcct acggggcggc gcgagaaccc gaagcggccc gcggctacgg
      361 cactccgggc ccgggcggcg acctccccgc ggcgcctgca cctcgcgccc cagctcaggc
      421 ggcggagagc agcggcgaac agagcgggga cgaggacgac gccttcgagc agcggcggcg
      481 gcggcgcggg ccagggagcg cggcggacgg gcggcggcgg ccgcgagagc agcggtctct
      541 gcggctcagc atcaacgcgc gcgagcggcg gcgcatgcac gacctaaacg acgcgctgga
      601 cgggctgcga gccgtcatcc cctacgcgca cagcccgtcg gtgcgcaagc tctccaagat
      661 cgccacgctg ctgctcgcca agaactatat cctcatgcag gcgcaggccc tggacgagat
      721 gcggcgcctg gtggccttcc tcaaccaggg ccagggcctg gccgcgcccg taaacgccgc
      781 gcccttgacg cccttcggcc aggccactgt gtgccccttc tccgcaggcg ccgccctggg
      841 gccctgccct gacaagtgcg ccgccttctc cgggacgccc tccgcgcttt gcaaacactg
      901 tcacgagaag ccgtgaccgc gcgggccccc ggccctcccg cacgcgtcct ccgatcgccc
      961 ctgtgactgt ctctctgccc ggacaggaaa ggcctggagg gaccctgcag accaggagga
     1021 gggggcccga cttcgctt
//
