LOCUS       NM_005593               1540 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens myogenic factor 5 (MYF5), mRNA.
ACCESSION   NM_005593
VERSION     NM_005593.3
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 1540)
  AUTHORS   Ocieczek,P., Oluonye,N., Mejecase,C., Schiff,E., Tailor,V. and
            Moosajee,M.
  TITLE     Identification of a Novel Frameshift Variant in MYF5 Leading to
            External Ophthalmoplegia with Rib and Vertebral Anomalies
  JOURNAL   Genes (Basel) 15 (6), 699 (2024)
   PUBMED   38927634
  REMARK    GeneRIF: Identification of a Novel Frameshift Variant in MYF5
            Leading to External Ophthalmoplegia with Rib and Vertebral
            Anomalies.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1540)
  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 1540)
  AUTHORS   Di Gioia,S.A., Shaaban,S., Tuysuz,B., Elcioglu,N.H., Chan,W.M.,
            Robson,C.D., Ecklund,K., Gilette,N.M., Hamzaoglu,A., Tayfun,G.A.,
            Traboulsi,E.I. and Engle,E.C.
  TITLE     Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and
            Vertebral Anomalies
  JOURNAL   Am J Hum Genet 103 (1), 115-124 (2018)
   PUBMED   29887215
  REMARK    GeneRIF: The direct role of MYF5 in rib, spine, and extraocular
            muscle formation in humans.
REFERENCE   4  (bases 1 to 1540)
  AUTHORS   Skrzypek,K., Kusienicka,A., Trzyna,E., Szewczyk,B., Ulman,A.,
            Konieczny,P., Adamus,T., Badyra,B., Kortylewski,M. and Majka,M.
  TITLE     SNAIL is a key regulator of alveolar rhabdomyosarcoma tumor growth
            and differentiation through repression of MYF5 and MYOD function
  JOURNAL   Cell Death Dis 9 (6), 643 (2018)
   PUBMED   29844345
  REMARK    GeneRIF: SNAIL silencing allows the re-expression of MYF5 and
            canonical MYOD binding, promoting alveolar rhabdomyosarcoma cell
            myogenic differentiation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1540)
  AUTHORS   Tenente,I.M., Hayes,M.N., Ignatius,M.S., McCarthy,K., Yohe,M.,
            Sindiri,S., Gryder,B., Oliveira,M.L., Ramakrishnan,A., Tang,Q.,
            Chen,E.Y., Petur Nielsen,G., Khan,J. and Langenau,D.M.
  TITLE     Myogenic regulatory transcription factors regulate growth in
            rhabdomyosarcoma
  JOURNAL   Elife 6, e19214 (2017)
   PUBMED   28080960
  REMARK    GeneRIF: Analysis of human rhabdomyosarcoma revealed that MYF5 and
            MYOD are mutually-exclusively expressed and each is required for
            sustained tumor growth.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1540)
  AUTHORS   Chen,C.M., Kraut,N., Groudine,M. and Weintraub,H.
  TITLE     I-mf, a novel myogenic repressor, interacts with members of the
            MyoD family
  JOURNAL   Cell 86 (5), 731-741 (1996)
   PUBMED   8797820
REFERENCE   7  (bases 1 to 1540)
  AUTHORS   Dechesne,C.A., Wei,Q., Eldridge,J., Gannoun-Zaki,L., Millasseau,P.,
            Bougueleret,L., Caterina,D. and Paterson,B.M.
  TITLE     E-box- and MEF-2-independent muscle-specific expression, positive
            autoregulation, and cross-activation of the chicken MyoD (CMD1)
            promoter reveal an indirect regulatory pathway
  JOURNAL   Mol Cell Biol 14 (8), 5474-5486 (1994)
   PUBMED   8035824
REFERENCE   8  (bases 1 to 1540)
  AUTHORS   Braun,T., Winter,B., Bober,E. and Arnold,H.H.
  TITLE     Transcriptional activation domain of the muscle-specific
            gene-regulatory protein myf5
  JOURNAL   Nature 346 (6285), 663-665 (1990)
   PUBMED   2385294
REFERENCE   9  (bases 1 to 1540)
  AUTHORS   Braun,T., Bober,E., Winter,B., Rosenthal,N. and Arnold,H.H.
  TITLE     Myf-6, a new member of the human gene family of myogenic
            determination factors: evidence for a gene cluster on chromosome 12
  JOURNAL   EMBO J 9 (3), 821-831 (1990)
   PUBMED   2311584
REFERENCE   10 (bases 1 to 1540)
  AUTHORS   Braun,T., Buschhausen-Denker,G., Bober,E., Tannich,E. and
            Arnold,H.H.
  TITLE     A novel human muscle factor related to but distinct from MyoD1
            induces myogenic conversion in 10T1/2 fibroblasts
  JOURNAL   EMBO J 8 (3), 701-709 (1989)
   PUBMED   2721498
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC025568.25, BP231293.1, X14894.1, BC069373.1 and BX089431.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005593.2.
            
            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 :: X14894.1, BC069373.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158800, SAMEA2162946
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000228644.4/ ENSP00000228644.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AC025568.25        28654-28670
            18-110              BP231293.1         17-109
            111-872             X14894.1           1-762
            873-970             BC069373.1         763-860
            971-971             X14894.1           861-861
            972-1370            BX089431.1         234-632
            1371-1537           X14894.1           1261-1427
            1538-1540           AC025568.25        31411-31413
FEATURES             Location/Qualifiers
     source          1..1540
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.31"
     gene            1..1540
                     /gene="MYF5"
                     /gene_synonym="bHLHc2; EORVA"
                     /note="myogenic factor 5"
                     /db_xref="GeneID:4617"
                     /db_xref="HGNC:HGNC:7565"
                     /db_xref="MIM:159990"
     exon            1..653
                     /gene="MYF5"
                     /gene_synonym="bHLHc2; EORVA"
                     /inference="alignment:Splign:2.1.0"
     CDS             153..920
                     /gene="MYF5"
                     /gene_synonym="bHLHc2; EORVA"
                     /note="myf-5; class C basic helix-loop-helix protein 2"
                     /codon_start=1
                     /product="myogenic factor 5"
                     /protein_id="NP_005584.2"
                     /db_xref="CCDS:CCDS9020.1"
                     /db_xref="GeneID:4617"
                     /db_xref="HGNC:HGNC:7565"
                     /db_xref="MIM:159990"
                     /translation="MDVMDGCQFSPSEYFYDGSCIPSPEGEFGDEFVPRVAAFGAHKA
                     ELQGSDEDEHVRAPTGHHQAGHCLMWACKACKRKSTTMDRRKAATMRERRRLKKVNQA
                     FETLKRCTTTNPNQRLPKVEILRNAIRYIESLQELLREQVENYYSLPGQSCSEPTSPT
                     SNCSDGMPECNSPVWSRKSSTFDSIYCPDVSNVYATDKNSLSSLDCLSNIVDRITSSE
                     QPGLPLQDLASLSPVASTDSQPATPGASSSRLIYHVL"
     exon            654..729
                     /gene="MYF5"
                     /gene_synonym="bHLHc2; EORVA"
                     /inference="alignment:Splign:2.1.0"
     exon            730..1540
                     /gene="MYF5"
                     /gene_synonym="bHLHc2; EORVA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1517..1522
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYF5"
                     /gene_synonym="bHLHc2; EORVA"
                     /note="hexamer: AATAAA"
     polyA_site      1540
                     /gene="MYF5"
                     /gene_synonym="bHLHc2; EORVA"
                     /note="major polyA site"
ORIGIN      
        1 acccaggcca acaggcgtct gcccttgtta attaccggag cgacagacta gggagctccg
       61 cccgggattt gcccatcggc ggaggcgcca ggctcccgtt tctccccatc cctctcgctg
      121 ccgtccaggt gcaccgcctg cctctcagca ggatggacgt gatggatggc tgccagttct
      181 caccttctga gtacttctac gacggctcct gcataccgtc ccccgagggt gaatttgggg
      241 acgagtttgt gccgcgagtg gctgccttcg gagcgcacaa agcagagctg cagggctcag
      301 atgaggacga gcacgtgcga gcgcctaccg gccaccacca ggctggtcac tgcctcatgt
      361 gggcctgcaa agcctgcaag aggaagtcca ccaccatgga tcggcggaag gcagccacta
      421 tgcgcgagcg gaggcgcctg aagaaggtca accaggcttt cgaaaccctc aagaggtgta
      481 ccacgaccaa ccccaaccag aggctgccca aggtggagat cctcaggaat gccatccgct
      541 acatcgagag cctgcaggag ttgctgagag agcaggtgga gaactactat agcctgccgg
      601 gacagagctg ctcggagccc accagcccca cctccaactg ctctgatggc atgcccgaat
      661 gtaacagtcc tgtctggtcc agaaagagca gtacttttga cagcatctac tgtcctgatg
      721 tatcaaatgt atatgccaca gataaaaact ccttatccag cttggattgc ttatccaaca
      781 tagtggaccg gatcacctcc tcagagcaac ctgggttgcc tctccaggat ctggcttctc
      841 tctctccagt tgccagcacc gattcacagc ctgcaactcc aggggcttct agttccaggc
      901 ttatctatca tgtgctatga actaattttc tggtctatat gacttcttcc aggagggcct
      961 aatacacagg aagaagaagg cttcaaaaag tcccaaacca agacaacatg tacataaaga
     1021 tttcttttca gttgtaaatt tgtaaagatt accttgccac tttataagaa agtgtattta
     1081 actaaaaagt catcattgca aataatactt tcttcttctt tattattctt tgcttagata
     1141 ttaatacata gttccagtaa tactatttct gatagggggc cattgattga gggtagcttg
     1201 ttgcaatgct taacttatat atacatatat atatattata aatattgctc atcaaaatgt
     1261 ctctggtgtt tagagcttta tttttttctt taaaacatta aaacagctga gaatcagtta
     1321 aatggaattt taaatatatt taactatttc ttttctcttt aatcctttag ttatattgta
     1381 ttaaataaaa atataatact gcctaatgta tatattttga tcttttcttg taagaaatgt
     1441 atcttttaaa tgtaagcaca aaatagtact ttgtggatca tttcaagata taagaaattt
     1501 tggaaattcc accataaata aaatttttta ctacaagaaa
//
