LOCUS       NM_001300781            1349 bp    mRNA    linear   PRI 05-AUG-2024
DEFINITION  Homo sapiens helt bHLH transcription factor (HELT), transcript
            variant 1, mRNA.
ACCESSION   NM_001300781 XM_005262989
VERSION     NM_001300781.2
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 1349)
  AUTHORS   Cui,H., Schlesinger,J., Schoenhals,S., Tonjes,M., Dunkel,I.,
            Meierhofer,D., Cano,E., Schulz,K., Berger,M.F., Haack,T.,
            Abdelilah-Seyfried,S., Bulyk,M.L., Sauer,S. and Sperling,S.R.
  TITLE     Phosphorylation of the chromatin remodeling factor DPF3a induces
            cardiac hypertrophy through releasing HEY repressors from DNA
  JOURNAL   Nucleic Acids Res 44 (6), 2538-2553 (2016)
   PUBMED   26582913
  REMARK    GeneRIF: Activation of DPF3a upon hypertrophic stimuli in cardiac
            hypertrophy switches cardiac fetal gene expression from being
            silenced by HEY to being activated by BRG1.
REFERENCE   2  (bases 1 to 1349)
  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   3  (bases 1 to 1349)
  AUTHORS   Nakatani,T., Minaki,Y., Kumai,M. and Ono,Y.
  TITLE     Helt determines GABAergic over glutamatergic neuronal fate by
            repressing Ngn genes in the developing mesencephalon
  JOURNAL   Development 134 (15), 2783-2793 (2007)
   PUBMED   17611227
REFERENCE   4  (bases 1 to 1349)
  AUTHORS   Guimera,J., Vogt Weisenhorn,D., Echevarria,D., Martinez,S. and
            Wurst,W.
  TITLE     Molecular characterization, structure and developmental expression
            of Megane bHLH factor
  JOURNAL   Gene 377, 65-76 (2006)
   PUBMED   16644143
REFERENCE   5  (bases 1 to 1349)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Identification and characterization of human HESL, rat Hesl and
            rainbow trout hesl genes in silico
  JOURNAL   Int J Mol Med 14 (4), 747-751 (2004)
   PUBMED   15375612
  REMARK    GeneRIF: identified and characterized human HES-like (HESL), rat
            hesl, and rainbow trout hesl genes by using bioinformatics
REFERENCE   6  (bases 1 to 1349)
  AUTHORS   Nakatani,T., Mizuhara,E., Minaki,Y., Sakamoto,Y. and Ono,Y.
  TITLE     Helt, a novel basic-helix-loop-helix transcriptional repressor
            expressed in the developing central nervous system
  JOURNAL   J Biol Chem 279 (16), 16356-16367 (2004)
   PUBMED   14764602
REFERENCE   7  (bases 1 to 1349)
  AUTHORS   Miyoshi,G., Bessho,Y., Yamada,S. and Kageyama,R.
  TITLE     Identification of a novel basic helix-loop-helix gene, Heslike, and
            its role in GABAergic neurogenesis
  JOURNAL   J Neurosci 24 (14), 3672-3682 (2004)
   PUBMED   15071116
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093824.3.
            
            On Feb 8, 2021 this sequence version replaced NM_001300781.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144567.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2144333 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000515777.6/ ENSP00000426033.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-466               AC093824.3         20226-20691
            467-571             AC093824.3         21123-21227
            572-668             AC093824.3         21483-21579
            669-1349            AC093824.3         22009-22689
FEATURES             Location/Qualifiers
     source          1..1349
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     gene            1..1349
                     /gene="HELT"
                     /gene_synonym="bHLHb44; HCM1228; HESL; Mgn"
                     /note="helt bHLH transcription factor"
                     /db_xref="GeneID:391723"
                     /db_xref="HGNC:HGNC:33783"
                     /db_xref="MIM:617546"
     exon            1..466
                     /gene="HELT"
                     /gene_synonym="bHLHb44; HCM1228; HESL; Mgn"
                     /inference="alignment:Splign:2.1.0"
     CDS             440..1168
                     /gene="HELT"
                     /gene_synonym="bHLHb44; HCM1228; HESL; Mgn"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Megane bHLH factor; Hey-like transcription factor;
                     Hey-like transcriptional repressor; Hairy and enhancer of
                     split-related protein HELT; HES/HEY-like transcription
                     factor; Hes-like transcription factor"
                     /codon_start=1
                     /product="hairy and enhancer of split-related protein HELT
                     isoform 1"
                     /protein_id="NP_001287710.1"
                     /db_xref="CCDS:CCDS75214.1"
                     /db_xref="GeneID:391723"
                     /db_xref="HGNC:HGNC:33783"
                     /db_xref="MIM:617546"
                     /translation="MSDKLKERKRTPVSHKVIEKRRRDRINRCLNELGKTVPMALAKQ
                     SSGKLEKAEILEMTVQYLRALHSADFPRGREKAELLAEFANYFHYGYHECMKNLVHYL
                     TTVERMETKDTKYARILAFLQSKARLGAEPAFPPLGSLPEPDFSYQLHPAGPEFAGHS
                     PGEAAVFPQGSGAGPFPWPPGAARSPALPYLPSAPVPLASPAQQHSPFLTPVQGLDRH
                     YLNLIGHAHPNALNLHTPQHPPVL"
     exon            467..571
                     /gene="HELT"
                     /gene_synonym="bHLHb44; HCM1228; HESL; Mgn"
                     /inference="alignment:Splign:2.1.0"
     exon            572..668
                     /gene="HELT"
                     /gene_synonym="bHLHb44; HCM1228; HESL; Mgn"
                     /inference="alignment:Splign:2.1.0"
     exon            669..1349
                     /gene="HELT"
                     /gene_synonym="bHLHb44; HCM1228; HESL; Mgn"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1322..1327
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HELT"
                     /gene_synonym="bHLHb44; HCM1228; HESL; Mgn"
                     /note="hexamer: AATAAA"
     polyA_site      1349
                     /gene="HELT"
                     /gene_synonym="bHLHb44; HCM1228; HESL; Mgn"
                     /note="major polyA site"
ORIGIN      
        1 ctgcgcccct gcgctccgcg cccgcgactg ctgcaggcgc ttgctcgccc gccggcccca
       61 gtttaccgcc tccttttccc gcccgagctg ttgccatgca aatgttattc ctgggccgat
      121 cacgtgtcct ttgaagggcc acgtggatta acaaagctga tctgccccca gctcgccccc
      181 ctcggctgct aatttttttt ttttcttaac ttctttaaaa ctgatcttga atgcatacat
      241 cctccaaacg cagctcccct aatcctatgg aataattcaa ctcgtgaatg catctggagc
      301 cctagatgac cgctttataa ggcagccctc ggagttggga ggctgcagtc tacctgggac
      361 actcgaggag gcacacgagg cggaaaagtg gacgggtgcc ccgcgccacc gcctctcccg
      421 agggcgcgta ctgaccagga tgtcagacaa gctcaaggaa cgcaaaagaa cccccgtttc
      481 tcataaagtg atagaaaagc ggaggaggga caggatcaac cgctgcttga acgagctggg
      541 caagacagtg cccatggcct tggcgaagca gagttccggg aagctggaga aggcggagat
      601 cctcgagatg accgttcagt acctgagagc actgcactcc gctgattttc cccggggaag
      661 ggaaaaagca gaacttctag cggagtttgc caactacttc cactatggct accacgagtg
      721 catgaagaac ctggtgcatt acctcaccac ggtggagcgg atggagacca aggacacgaa
      781 gtacgcgcgc atcctcgcct tcttgcagtc caaggcccgc ctgggcgcgg agcccgcctt
      841 tccgccgctg ggttcgctcc cggagccgga tttctcctat cagctgcacc ctgcggggcc
      901 cgaattcgct ggtcacagcc cgggcgaggc cgctgtgttc ccgcagggct ctggtgccgg
      961 gcctttcccc tggccgcctg gcgcggcccg cagccccgcg ctgccctacc tgcccagcgc
     1021 gccagtgccg ctcgctagcc cagcgcagca gcacagcccc ttcctgacac cggtgcaggg
     1081 cctggaccgg cattacctca acctgatcgg ccacgcgcac cccaacgccc ttaacctgca
     1141 cacgccccag caccccccgg tgctctgacg cccactcgcc cgccagattt ctcctcgctt
     1201 tgggcgcttt taggagaaat gctgtatata ttgtacacat aatgtgtaaa tattgtaccc
     1261 caaaaatctg ggctggggga ggcaaagagc gaatgagtct tctgaaggat ctccccctgg
     1321 taataaacgt tttctgataa agacccaaa
//
