LOCUS       NM_002500               2493 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens neuronal differentiation 1 (NEUROD1), transcript
            variant 1, mRNA.
ACCESSION   NM_002500
VERSION     NM_002500.5
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 2493)
  AUTHORS   Kim,G., Kim,M., Nam,E.J., Lee,J.Y. and Park,E.
  TITLE     Application of Small Cell Lung Cancer Molecular Subtyping Markers
            to Small Cell Neuroendocrine Carcinoma of the Cervix: NEUROD1 as a
            Poor Prognostic Factor
  JOURNAL   Am J Surg Pathol 48 (3), 364-372 (2024)
   PUBMED   37981832
  REMARK    GeneRIF: Application of Small Cell Lung Cancer Molecular Subtyping
            Markers to Small Cell Neuroendocrine Carcinoma of the Cervix:
            NEUROD1 as a Poor Prognostic Factor.
REFERENCE   2  (bases 1 to 2493)
  AUTHORS   Choi,W., Choe,M.S., Kim,S.M., Kim,S.J., Lee,J., Lee,Y., Lee,S.M.,
            Dho,S.H., Lee,M.Y. and Kim,L.K.
  TITLE     RFX4 is an intrinsic factor for neuronal differentiation through
            induction of proneural genes POU3F2 and NEUROD1
  JOURNAL   Cell Mol Life Sci 81 (1), 99 (2024)
   PUBMED   38386071
  REMARK    GeneRIF: RFX4 is an intrinsic factor for neuronal differentiation
            through induction of proneural genes POU3F2 and NEUROD1.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2493)
  AUTHORS   Yoo,S.S., Lee,S., Choi,J.E., Hong,M.J., Do,S.K., Lee,J.H.,
            Lee,W.K., Park,J.E., Lee,Y.H., Choi,S.H., Seo,H., Lee,J., Lee,S.Y.,
            Cha,S.I., Kim,C.H., Kang,H.G. and Park,J.Y.
  TITLE     Promoter-Specific Variants in NeuroD1 and H3K4me3 Coincident
            Regions and Clinical Outcomes of Small Cell Lung Cancer
  JOURNAL   J Korean Med Sci 38 (45), e381 (2023)
   PUBMED   37987107
  REMARK    GeneRIF: Promoter-Specific Variants in NeuroD1 and H3K4me3
            Coincident Regions and Clinical Outcomes of Small Cell Lung Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2493)
  AUTHORS   Malecki,M.T., Jhala,U.S., Antonellis,A., Fields,L., Doria,A.,
            Orban,T., Saad,M., Warram,J.H., Montminy,M. and Krolewski,A.S.
  TITLE     Mutations in NEUROD1 are associated with the development of type 2
            diabetes mellitus
  JOURNAL   Nat Genet 23 (3), 323-328 (1999)
   PUBMED   10545951
REFERENCE   5  (bases 1 to 2493)
  AUTHORS   Yoon,Y.S., Noma,T., Yamashiro,Y., Ito,H. and Nakazawa,A.
  TITLE     Molecular cloning and characterization of the gene encoding human
            NeuroD
  JOURNAL   Neurosci Lett 251 (1), 17-20 (1998)
   PUBMED   9714454
REFERENCE   6  (bases 1 to 2493)
  AUTHORS   Yokoyama,M., Nishi,Y., Miyamoto,Y., Nakamura,M., Akiyama,K.,
            Matsubara,K. and Okubo,K.
  TITLE     Molecular cloning of a human neuroD from a neuroblastoma cell line
            specifically expressed in the fetal brain and adult cerebellum
  JOURNAL   Brain Res Mol Brain Res 42 (1), 135-139 (1996)
   PUBMED   8915591
REFERENCE   7  (bases 1 to 2493)
  AUTHORS   Tamimi,R., Steingrimsson,E., Copeland,N.G., Dyer-Montgomery,K.,
            Lee,J.E., Hernandez,R., Jenkins,N.A. and Tapscott,S.J.
  TITLE     The NEUROD gene maps to human chromosome 2q32 and mouse chromosome
            2
  JOURNAL   Genomics 34 (3), 418-421 (1996)
   PUBMED   8786144
REFERENCE   8  (bases 1 to 2493)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29792621
REFERENCE   9  (bases 1 to 2493)
  AUTHORS   De Leon,D.D. and Pinney,S.E.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301620
REFERENCE   10 (bases 1 to 2493)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013733.10 and BC009046.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 24, 2020 this sequence version replaced NM_002500.4.
            
            Summary: This gene encodes a member of the NeuroD family of basic
            helix-loop-helix (bHLH) transcription factors. The protein forms
            heterodimers with other bHLH proteins and activates transcription
            of genes that contain a specific DNA sequence known as the E-box.
            It regulates expression of the insulin gene, and mutations in this
            gene result in type II diabetes mellitus. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB593070.1, AB593071.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295108.4/ ENSP00000295108.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AC013733.10        78571-78601         c
            32-231              BC009046.1         1-200
            232-232             AC013733.10        76812-76812         c
            233-1829            BC009046.1         202-1798
            1830-2493           AC013733.10        74551-75214         c
FEATURES             Location/Qualifiers
     source          1..2493
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.3"
     gene            1..2493
                     /gene="NEUROD1"
                     /gene_synonym="BETA2; BHF-1; bHLHa3; MODY6; NEUROD; T2D"
                     /note="neuronal differentiation 1"
                     /db_xref="GeneID:4760"
                     /db_xref="HGNC:HGNC:7762"
                     /db_xref="MIM:601724"
     exon            1..88
                     /gene="NEUROD1"
                     /gene_synonym="BETA2; BHF-1; bHLHa3; MODY6; NEUROD; T2D"
                     /inference="alignment:Splign:2.1.0"
     exon            89..2493
                     /gene="NEUROD1"
                     /gene_synonym="BETA2; BHF-1; bHLHa3; MODY6; NEUROD; T2D"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..1170
                     /gene="NEUROD1"
                     /gene_synonym="BETA2; BHF-1; bHLHa3; MODY6; NEUROD; T2D"
                     /note="neurogenic helix-loop-helix protein NEUROD; basic
                     helix-loop-helix transcription factor; beta-cell E-box
                     transactivator 2; class A basic helix-loop-helix protein
                     3"
                     /codon_start=1
                     /product="neurogenic differentiation factor 1"
                     /protein_id="NP_002491.3"
                     /db_xref="CCDS:CCDS2283.1"
                     /db_xref="GeneID:4760"
                     /db_xref="HGNC:HGNC:7762"
                     /db_xref="MIM:601724"
                     /translation="MTKSYSESGLMGEPQPQGPPSWTDECLSSQDEEHEADKKEDDLE
                     TMNAEEDSLRNGGEEEDEDEDLEEEEEEEEEDDDQKPKRRGPKKKKMTKARLERFKLR
                     RMKANARERNRMHGLNAALDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSG
                     KSPDLVSFVQTLCKGLSQPTTNLVAGCLQLNPRTFLPEQNQDMPPHLPTASASFPVHP
                     YSYQSPGLPSPPYGTMDSSHVFHVKPPPHAYSAALEPFFESPLTDCTSPSFDGPLSPP
                     LSINGNFSFKHEPSAEFEKNYAFTMHYPAATLAGAQSHGSIFSGTAAPRCEIPIDNIM
                     SFDSHSHHERVMSAQLNAIFHD"
     regulatory      2472..2477
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEUROD1"
                     /gene_synonym="BETA2; BHF-1; bHLHa3; MODY6; NEUROD; T2D"
                     /note="hexamer: AATAAA"
     polyA_site      2493
                     /gene="NEUROD1"
                     /gene_synonym="BETA2; BHF-1; bHLHa3; MODY6; NEUROD; T2D"
                     /note="major polyA site"
ORIGIN      
        1 acgaggaatt cgcccacgca ggaggcgcgg cgtccggagg ccccagggtt atgagactat
       61 cactgctcag gacctactaa caacaaagga aatcgaaaca tgaccaaatc gtacagcgag
      121 agtgggctga tgggcgagcc tcagccccaa ggtcctccaa gctggacaga cgagtgtctc
      181 agttctcagg acgaggagca cgaggcagac aagaaggagg acgacctcga aaccatgaac
      241 gcagaggagg actcactgag gaacggggga gaggaggagg acgaagatga ggacctggaa
      301 gaggaggaag aagaggaaga ggaggatgac gatcaaaagc ccaagagacg cggccccaaa
      361 aagaagaaga tgactaaggc tcgcctggag cgttttaaat tgagacgcat gaaggctaac
      421 gcccgggagc ggaaccgcat gcacggactg aacgcggcgc tagacaacct gcgcaaggtg
      481 gtgccttgct attctaagac gcagaagctg tccaaaatcg agactctgcg cttggccaag
      541 aactacatct gggctctgtc ggagatcctg cgctcaggca aaagcccaga cctggtctcc
      601 ttcgttcaga cgctttgcaa gggcttatcc caacccacca ccaacctggt tgcgggctgc
      661 ctgcaactca atcctcggac ttttctgcct gagcagaacc aggacatgcc cccccacctg
      721 ccgacggcca gcgcttcctt ccctgtacac ccctactcct accagtcgcc tgggctgccc
      781 agtccgcctt acggtaccat ggacagctcc catgtcttcc acgttaagcc tccgccgcac
      841 gcctacagcg cagcgctgga gcccttcttt gaaagccctc tgactgattg caccagccct
      901 tcctttgatg gacccctcag cccgccgctc agcatcaatg gcaacttctc tttcaaacac
      961 gaaccgtccg ccgagtttga gaaaaattat gcctttacca tgcactatcc tgcagcgaca
     1021 ctggcagggg cccaaagcca cggatcaatc ttctcaggca ccgctgcccc tcgctgcgag
     1081 atccccatag acaatattat gtccttcgat agccattcac atcatgagcg agtcatgagt
     1141 gcccagctca atgccatatt tcatgattag aggcacgcca gtttcaccat ttccgggaaa
     1201 cgaacccact gtgcttacag tgactgtcgt gtttacaaaa ggcagccctt tgggtactac
     1261 tgctgcaaag tgcaaatact ccaagcttca agtgatatat gtatttattg tcattactgc
     1321 ctttggaaga aacaggggat caaagttcct gttcacctta tgtattattt tctatagctc
     1381 ttctatttaa aaaataaaaa aatacagtaa agtttaaaaa atacaccacg aatttggtgt
     1441 ggctgtattc agatcgtatt aattatctga tcgggataac aaaatcacaa gcaataatta
     1501 ggatctatgc aatttttaaa ctagtaatgg gccaattaaa atatatataa atatatattt
     1561 ttcaaccagc attttactac ttgttacctt tcccatgctg aattattttg ttgtgatttt
     1621 gtacagaatt tttaatgact ttttataatg tggatttcct attttaaaac catgcagctt
     1681 catcaatttt tatacatatc agaaaagtag aattatatct aatttataca aaataattta
     1741 actaatttaa accagcagaa aagtgcttag aaagttattg tgttgcctta gcacttcttt
     1801 cctctccaat tgtaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaattg cacaatttga
     1861 gcaattcatt tcactttaaa gtctttccgt ctccctaaaa taaaaaccag aatcataatt
     1921 ttcaagagaa gaaaaaatta agagatacat tccctatcaa aacatatcaa ttcaacacat
     1981 tacttgcaca agcttgtata tacatattat aaataaatgc caacataccc ttctttaaat
     2041 caaaagctgc ttgactatca catacaattt gcactgttac tttttagtct tttactcctt
     2101 tgcattccat gattttacag agaatctgaa gctattgatg tttccagaaa atataaatgc
     2161 atgattttat acatagtcac aaaaatggtg gtttgtcata tattcatgta ataaatctga
     2221 gcctaaatct aatcaggttg ttaatgttgg gatttatatc tatagtagtc aattagtaca
     2281 gtagcttaaa taaattcaaa ccatttaatt cataattaga acaatagcta ttgcatgtaa
     2341 aatgcagtcc agaataagtg ctgtttgaga tgtgatgctg gtaccactgg aatcgatctg
     2401 tactgtaatt ttgtttgtaa tcctgtatat tatggtgtaa tgcacaattt agaaaacatt
     2461 catccagttg caataaaata gtattgaaag tga
//
