LOCUS       NM_002478               1803 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens myogenic differentiation 1 (MYOD1), mRNA.
ACCESSION   NM_002478
VERSION     NM_002478.5
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 1803)
  AUTHORS   Wu,F., Zhang,J., Jiang,Q., Li,Q., Li,F., Li,J., Lv,W., Wang,X.,
            Qin,Y., Huang,C. and Zhang,S.
  TITLE     MyoD1 promotes the transcription of BIK and plays an
            apoptosis-promoting role in the development of gastric cancer
  JOURNAL   Cell Cycle 23 (5), 573-587 (2024)
   PUBMED   38701194
  REMARK    GeneRIF: MyoD1 promotes the transcription of BIK and plays an
            apoptosis-promoting role in the development of gastric cancer.
REFERENCE   2  (bases 1 to 1803)
  AUTHORS   Pomella,S., Cassandri,M., D'Archivio,L., Porrazzo,A., Cossetti,C.,
            Phelps,D., Perrone,C., Pezzella,M., Cardinale,A., Wachtel,M.,
            Aloisi,S., Milewski,D., Colletti,M., Sreenivas,P., Walters,Z.S.,
            Barillari,G., Di Giannatale,A., Milano,G.M., De Stefanis,C.,
            Alaggio,R., Rodriguez-Rodriguez,S., Carlesso,N., Vakoc,C.R.,
            Velardi,E., Schafer,B.W., Guccione,E., Gatz,S.A., Wasti,A.,
            Yohe,M., Ignatius,M., Quintarelli,C., Shipley,J., Miele,L.,
            Khan,J., Houghton,P.J., Marampon,F., Gryder,B.E., De Angelis,B.,
            Locatelli,F. and Rota,R.
  TITLE     MYOD-SKP2 axis boosts tumorigenesis in fusion negative
            rhabdomyosarcoma by preventing differentiation through p57Kip2
            targeting
  JOURNAL   Nat Commun 14 (1), 8373 (2023)
   PUBMED   38102140
  REMARK    GeneRIF: MYOD-SKP2 axis boosts tumorigenesis in fusion negative
            rhabdomyosarcoma by preventing differentiation through p57[Kip2]
            targeting.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1803)
  AUTHORS   Choo,F., Odintsov,I., Nusser,K., Nicholson,K.S., Davis,L.,
            Corless,C.L., Stork,L., Somwar,R., Ladanyi,M., Davis,J.L. and
            Davare,M.A.
  TITLE     Functional impact and targetability of PI3KCA, GNAS, and PTEN
            mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R
            mutation
  JOURNAL   Cold Spring Harb Mol Case Stud 8 (1), a006140 (2022)
   PUBMED   35012940
  REMARK    GeneRIF: Functional impact and targetability of PI3KCA, GNAS, and
            PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R
            mutation.
            Erratum:[Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):a006216.
            doi: 10.1101/mcs.a006216.. PMID: 35483883]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1803)
  AUTHORS   Ahmed,A.A., Habeebu,S., Farooqi,M.S., Gamis,A.S., Gonzalez,E.,
            Flatt,T., Sherman,A., Surrey,L., Arnold,M.A., Conces,M., Koo,S.,
            Dioufa,N., Barr,F.G. and Tsokos,M.G.
  TITLE     MYOD1 as a prognostic indicator in rhabdomyosarcoma
  JOURNAL   Pediatr Blood Cancer 68 (9), e29085 (2021)
   PUBMED   33913590
  REMARK    GeneRIF: MYOD1 as a prognostic indicator in rhabdomyosarcoma.
REFERENCE   5  (bases 1 to 1803)
  AUTHORS   Jacchetti,E., Nasehi,R., Boeri,L., Parodi,V., Negro,A., Albani,D.,
            Osellame,R., Cerullo,G., Matas,J.F.R. and Raimondi,M.T.
  TITLE     The nuclear import of the transcription factor MyoD is reduced in
            mesenchymal stem cells grown in a 3D micro-engineered niche
  JOURNAL   Sci Rep 11 (1), 3021 (2021)
   PUBMED   33542304
  REMARK    GeneRIF: The nuclear import of the transcription factor MyoD is
            reduced in mesenchymal stem cells grown in a 3D micro-engineered
            niche.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1803)
  AUTHORS   Li,L., Zhou,J., James,G., Heller-Harrison,R., Czech,M.P. and
            Olson,E.N.
  TITLE     FGF inactivates myogenic helix-loop-helix proteins through
            phosphorylation of a conserved protein kinase C site in their
            DNA-binding domains
  JOURNAL   Cell 71 (7), 1181-1194 (1992)
   PUBMED   1335366
REFERENCE   7  (bases 1 to 1803)
  AUTHORS   Shaknovich,R., Shue,G. and Kohtz,D.S.
  TITLE     Conformational activation of a basic helix-loop-helix protein
            (MyoD1) by the C-terminal region of murine HSP90 (HSP84)
  JOURNAL   Mol Cell Biol 12 (11), 5059-5068 (1992)
   PUBMED   1406681
REFERENCE   8  (bases 1 to 1803)
  AUTHORS   Walsh,K. and Gualberto,A.
  TITLE     MyoD binds to the guanine tetrad nucleic acid structure
  JOURNAL   J Biol Chem 267 (19), 13714-13718 (1992)
   PUBMED   1320026
REFERENCE   9  (bases 1 to 1803)
  AUTHORS   Bengal,E., Ransone,L., Scharfmann,R., Dwarki,V.J., Tapscott,S.J.,
            Weintraub,H. and Verma,I.M.
  TITLE     Functional antagonism between c-Jun and MyoD proteins: a direct
            physical association
  JOURNAL   Cell 68 (3), 507-519 (1992)
   PUBMED   1310896
REFERENCE   10 (bases 1 to 1803)
  AUTHORS   Lassar,A.B., Davis,R.L., Wright,W.E., Kadesch,T., Murre,C.,
            Voronova,A., Baltimore,D. and Weintraub,H.
  TITLE     Functional activity of myogenic HLH proteins requires
            hetero-oligomerization with E12/E47-like proteins in vivo
  JOURNAL   Cell 66 (2), 305-315 (1991)
   PUBMED   1649701
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF304059.1, BF205042.1,
            AC124301.6 and AI300241.1.
            
            On Nov 23, 2018 this sequence version replaced NM_002478.4.
            
            Summary: This gene encodes a nuclear protein that belongs to the
            basic helix-loop-helix family of transcription factors and the
            myogenic factors subfamily. It regulates muscle cell
            differentiation by inducing cell cycle arrest, a prerequisite for
            myogenic initiation. The protein is also involved in muscle
            regeneration. It activates its own transcription which may
            stabilize commitment to myogenesis. [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 :: X56677.1, X17650.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153307, SAMEA2162946
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000250003.4/ ENSP00000250003.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                BF304059.1         10-34
            26-149              BF205042.1         19-142
            150-842             AC124301.6         42714-43406         c
            843-921             AC124301.6         42146-42224         c
            922-1746            AC124301.6         41047-41871         c
            1747-1798           AI300241.1         18-69               c
            1799-1803           AC124301.6         40990-40994         c
FEATURES             Location/Qualifiers
     source          1..1803
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.1"
     gene            1..1803
                     /gene="MYOD1"
                     /gene_synonym="bHLHc1; CMYO17; CMYP17; MYF3; MYOD;
                     MYODRIF; PUM"
                     /note="myogenic differentiation 1"
                     /db_xref="GeneID:4654"
                     /db_xref="HGNC:HGNC:7611"
                     /db_xref="MIM:159970"
     exon            1..842
                     /gene="MYOD1"
                     /gene_synonym="bHLHc1; CMYO17; CMYP17; MYF3; MYOD;
                     MYODRIF; PUM"
                     /inference="alignment:Splign:2.1.0"
     exon            843..921
                     /gene="MYOD1"
                     /gene_synonym="bHLHc1; CMYO17; CMYP17; MYF3; MYOD;
                     MYODRIF; PUM"
                     /inference="alignment:Splign:2.1.0"
     exon            922..1803
                     /gene="MYOD1"
                     /gene_synonym="bHLHc1; CMYO17; CMYP17; MYF3; MYOD;
                     MYODRIF; PUM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1779..1784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYOD1"
                     /gene_synonym="bHLHc1; CMYO17; CMYP17; MYF3; MYOD;
                     MYODRIF; PUM"
                     /note="hexamer: AATAAA"
     polyA_site      1803
                     /gene="MYOD1"
                     /gene_synonym="bHLHc1; CMYO17; CMYP17; MYF3; MYOD;
                     MYODRIF; PUM"
                     /note="major polyA site"
ORIGIN      
        1 aggggtgagg aagccctggg gcgctgccgc cgctttcctt aaccacaaat caggccggac
       61 aggagaggga ggggtggggg acagtgggtg ggcattcaga ctgccagcac tttgctatct
      121 acagccgggg ctcccgagcg gcagaaagtt ccggccactc tctgccgctt gggttgggcg
      181 aagccaggac cgtgccgcgc caccgccagg atatggagct actgtcgcca ccgctccgcg
      241 acgtagacct gacggccccc gacggctctc tctgctcctt tgccacaacg gacgacttct
      301 atgacgaccc gtgtttcgac tccccggacc tgcgcttctt cgaagacctg gacccgcgcc
      361 tgatgcacgt gggcgcgctc ctgaaacccg aagagcactc gcacttcccc gcggcggtgc
      421 acccggcccc gggcgcacgt gaggacgagc atgtgcgcgc gcccagcggg caccaccagg
      481 cgggccgctg cctactgtgg gcctgcaagg cgtgcaagcg caagaccacc aacgccgacc
      541 gccgcaaggc cgccaccatg cgcgagcggc gccgcctgag caaagtaaat gaggcctttg
      601 agacactcaa gcgctgcacg tcgagcaatc caaaccagcg gttgcccaag gtggagatcc
      661 tgcgcaacgc catccgctat atcgagggcc tgcaggctct gctgcgcgac caggacgccg
      721 cgccccctgg cgccgcagcc gccttctatg cgccgggccc gctgcccccg ggccgcggcg
      781 gcgagcacta cagcggcgac tccgacgcgt ccagcccgcg ctccaactgc tccgacggca
      841 tgatggacta cagcggcccc ccgagcggcg cccggcggcg gaactgctac gaaggcgcct
      901 actacaacga ggcgcccagc gaacccaggc ccgggaagag tgcggcggtg tcgagcctag
      961 actgcctgtc cagcatcgtg gagcgcatct ccaccgagag ccctgcggcg cccgccctcc
     1021 tgctggcgga cgtgccttct gagtcgcctc cgcgcaggca agaggctgcc gcccccagcg
     1081 agggagagag cagcggcgac cccacccagt caccggacgc cgccccgcag tgccctgcgg
     1141 gtgcgaaccc caacccgata taccaggtgc tctgagggga tggtggccgc ccacccgccc
     1201 gagggatggt gcccctaggg tccctcgcgc ccaaaagatt gaacttaaat gcccccctcc
     1261 caacagcgct ttaaaagcga cctctcttga ggtaggagag gcgggagaac tgaagtttcc
     1321 gcccccgccc cacagggcaa ggacacagcg cggttttttc cacgcagcac ccttctcgga
     1381 gacccattgc gatggccgct ccgtgttcct cggtgggcca gagctgaacc ttgaggggct
     1441 aggttcagct ttctcgcgcc ctcccccatg ggggtgagac cctcgcagac ctaagccctg
     1501 ccccgggatg caccggttat ttgggggggc gtgagaccca gtgcactccg gtcccaaatg
     1561 tagcaggtgt aaccgtaacc cacccccaac ccgtttcccg gttcaggacc actttttgta
     1621 atacttttgt aatctattcc tgtaaataag agttgctttg ccagagcagg agcccctggg
     1681 gctgtattta tctctgaggc atggtgtgtg gtgctacagg gaatttgtac gtttataccg
     1741 caggcgggcg agccgcgggc gctcgctcag gtgatcaaaa taaaggcgct aatttatacc
     1801 gcc
//
