LOCUS       NM_005259               2819 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens myostatin (MSTN), mRNA.
ACCESSION   NM_005259
VERSION     NM_005259.3
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 2819)
  AUTHORS   de Luis,D., Primo,D., Izaola,O. and Gomez,J.J.L.
  TITLE     Role of irisin and myostatin on sarcopenia in malnourished patients
            diagnosed with GLIM criteria
  JOURNAL   Nutrition 120, 112348 (2024)
   PUBMED   38309190
  REMARK    GeneRIF: Role of irisin and myostatin on sarcopenia in malnourished
            patients diagnosed with GLIM criteria.
REFERENCE   2  (bases 1 to 2819)
  AUTHORS   Saxena,G., Gallagher,S., Law,T.D., Maschari,D., Walsh,E.,
            Dudley,C., Brault,J.J. and Consitt,L.A.
  TITLE     Sex-specific increases in myostatin and SMAD3 contribute to
            obesity-related insulin resistance in human skeletal muscle and
            primary human myotubes
  JOURNAL   Am J Physiol Endocrinol Metab 326 (3), E352-E365 (2024)
   PUBMED   38088865
  REMARK    GeneRIF: Sex-specific increases in myostatin and SMAD3 contribute
            to obesity-related insulin resistance in human skeletal muscle and
            primary human myotubes.
REFERENCE   3  (bases 1 to 2819)
  AUTHORS   Ibrahim,A.H., Kasim,S.A., Ezzat,A.A., Ibrahim,N.E., Hassan,D.A.,
            Ibrahim,A.S., Abouelgreed,T.A., Abdo,E.M., Aboelsoud,N.M.,
            Abdelmonem,N.M., Alnajem,M.T. and Aboomar,A.A.
  TITLE     Relation between myostatin levels and malnutrition and muscle
            wasting in hemodialysis patients
  JOURNAL   Arch Ital Urol Androl 95 (4), 11869 (2023)
   PUBMED   38117215
  REMARK    GeneRIF: Relation between myostatin levels and malnutrition and
            muscle wasting in hemodialysis patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2819)
  AUTHORS   Knapp,M., Supruniuk,E. and Gorski,J.
  TITLE     Myostatin and the Heart
  JOURNAL   Biomolecules 13 (12), 1777 (2023)
   PUBMED   38136649
  REMARK    GeneRIF: Myostatin and the Heart.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2819)
  AUTHORS   White,T.A. and LeBrasseur,N.K.
  TITLE     Myostatin and sarcopenia: opportunities and challenges - a
            mini-review
  JOURNAL   Gerontology 60 (4), 289-293 (2014)
   PUBMED   24457615
  REMARK    Review article
REFERENCE   6  (bases 1 to 2819)
  AUTHORS   Gonzalez-Cadavid,N.F., Taylor,W.E., Yarasheski,K., Sinha-Hikim,I.,
            Ma,K., Ezzat,S., Shen,R., Lalani,R., Asa,S., Mamita,M., Nair,G.,
            Arver,S. and Bhasin,S.
  TITLE     Organization of the human myostatin gene and expression in healthy
            men and HIV-infected men with muscle wasting
  JOURNAL   Proc Natl Acad Sci U S A 95 (25), 14938-14943 (1998)
   PUBMED   9843994
REFERENCE   7  (bases 1 to 2819)
  AUTHORS   Grobet,L., Martin,L.J., Poncelet,D., Pirottin,D., Brouwers,B.,
            Riquet,J., Schoeberlein,A., Dunner,S., Menissier,F., Massabanda,J.,
            Fries,R., Hanset,R. and Georges,M.
  TITLE     A deletion in the bovine myostatin gene causes the double-muscled
            phenotype in cattle
  JOURNAL   Nat Genet 17 (1), 71-74 (1997)
   PUBMED   9288100
REFERENCE   8  (bases 1 to 2819)
  AUTHORS   McPherron,A.C., Lawler,A.M. and Lee,S.J.
  TITLE     Regulation of skeletal muscle mass in mice by a new TGF-beta
            superfamily member
  JOURNAL   Nature 387 (6628), 83-90 (1997)
   PUBMED   9139826
REFERENCE   9  (bases 1 to 2819)
  AUTHORS   Solinas-Toldo,S., Lengauer,C. and Fries,R.
  TITLE     Comparative genome map of human and cattle
  JOURNAL   Genomics 27 (3), 489-496 (1995)
   PUBMED   7558031
REFERENCE   10 (bases 1 to 2819)
  AUTHORS   Wagner,K.R. and Cohen,J.S.
  TITLE     Myostatin-Related Muscle Hypertrophy - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301671
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF104922.1 and BX093210.1.
            
            On May 17, 2019 this sequence version replaced NM_005259.2.
            
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate each subunit of the
            disulfide-linked homodimer. This protein negatively regulates
            skeletal muscle cell proliferation and differentiation. Mutations
            in this gene are associated with increased skeletal muscle mass in
            humans and other mammals. [provided by RefSeq, Jul 2016].
            
            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 :: AF104922.1, SRR14038195.1856478.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144, SAMEA2467148
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260950.5/ ENSP00000260950.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1914              AF104922.1         1-1914
            1915-2399           BX093210.1         223-707
            2400-2819           AF104922.1         2400-2819
FEATURES             Location/Qualifiers
     source          1..2819
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..2819
                     /gene="MSTN"
                     /gene_synonym="GDF8; MSLHP"
                     /note="myostatin"
                     /db_xref="GeneID:2660"
                     /db_xref="HGNC:HGNC:4223"
                     /db_xref="MIM:601788"
     exon            1..506
                     /gene="MSTN"
                     /gene_synonym="GDF8; MSLHP"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..1261
                     /gene="MSTN"
                     /gene_synonym="GDF8; MSLHP"
                     /note="growth/differentiation factor 8; myostatin-b"
                     /codon_start=1
                     /product="growth/differentiation factor 8 preproprotein"
                     /protein_id="NP_005250.1"
                     /db_xref="CCDS:CCDS2303.1"
                     /db_xref="GeneID:2660"
                     /db_xref="HGNC:HGNC:4223"
                     /db_xref="MIM:601788"
                     /translation="MQKLQLCVYIYLFMLIVAGPVDLNENSEQKENVEKEGLCNACTW
                     RQNTKSSRIEAIKIQILSKLRLETAPNISKDVIRQLLPKAPPLRELIDQYDVQRDDSS
                     DGSLEDDDYHATTETIITMPTESDFLMQVDGKPKCCFFKFSSKIQYNKVVKAQLWIYL
                     RPVETPTTVFVQILRLIKPMKDGTRYTGIRSLKLDMNPGTGIWQSIDVKTVLQNWLKQ
                     PESNLGIEIKALDENGHDLAVTFPGPGEDGLNPFLEVKVTDTPKRSRRDFGLDCDEHS
                     TESRCCRYPLTVDFEAFGWDWIIAPKRYKANYCSGECEFVFLQKYPHTHLVHQANPRG
                     SAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMVVDRCGCS"
     exon            507..880
                     /gene="MSTN"
                     /gene_synonym="GDF8; MSLHP"
                     /inference="alignment:Splign:2.1.0"
     exon            881..2819
                     /gene="MSTN"
                     /gene_synonym="GDF8; MSLHP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2609..2614
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSTN"
                     /gene_synonym="GDF8; MSLHP"
                     /note="hexamer: AATAAA"
     polyA_site      2632
                     /gene="MSTN"
                     /gene_synonym="GDF8; MSLHP"
                     /note="major polyA site"
     regulatory      2788..2793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSTN"
                     /gene_synonym="GDF8; MSLHP"
                     /note="hexamer: ATTAAA"
     polyA_site      2819
                     /gene="MSTN"
                     /gene_synonym="GDF8; MSLHP"
ORIGIN      
        1 agattcactg gtgtggcaag ttgtctctca gactgtacat gcattaaaat tttgcttggc
       61 attactcaaa agcaaaagaa aagtaaaagg aagaaacaag aacaagaaaa aagattatat
      121 tgattttaaa atcatgcaaa aactgcaact ctgtgtttat atttacctgt ttatgctgat
      181 tgttgctggt ccagtggatc taaatgagaa cagtgagcaa aaagaaaatg tggaaaaaga
      241 ggggctgtgt aatgcatgta cttggagaca aaacactaaa tcttcaagaa tagaagccat
      301 taagatacaa atcctcagta aacttcgtct ggaaacagct cctaacatca gcaaagatgt
      361 tataagacaa cttttaccca aagctcctcc actccgggaa ctgattgatc agtatgatgt
      421 ccagagggat gacagcagcg atggctcttt ggaagatgac gattatcacg ctacaacgga
      481 aacaatcatt accatgccta cagagtctga ttttctaatg caagtggatg gaaaacccaa
      541 atgttgcttc tttaaattta gctctaaaat acaatacaat aaagtagtaa aggcccaact
      601 atggatatat ttgagacccg tcgagactcc tacaacagtg tttgtgcaaa tcctgagact
      661 catcaaacct atgaaagacg gtacaaggta tactggaatc cgatctctga aacttgacat
      721 gaacccaggc actggtattt ggcagagcat tgatgtgaag acagtgttgc aaaattggct
      781 caaacaacct gaatccaact taggcattga aataaaagct ttagatgaga atggtcatga
      841 tcttgctgta accttcccag gaccaggaga agatgggctg aatccgtttt tagaggtcaa
      901 ggtaacagac acaccaaaaa gatccagaag ggattttggt cttgactgtg atgagcactc
      961 aacagaatca cgatgctgtc gttaccctct aactgtggat tttgaagctt ttggatggga
     1021 ttggattatc gctcctaaaa gatataaggc caattactgc tctggagagt gtgaatttgt
     1081 atttttacaa aaatatcctc atactcatct ggtacaccaa gcaaacccca gaggttcagc
     1141 aggcccttgc tgtactccca caaagatgtc tccaattaat atgctatatt ttaatggcaa
     1201 agaacaaata atatatggga aaattccagc gatggtagta gaccgctgtg ggtgctcatg
     1261 agatttatat taagcgttca taacttccta aaacatggaa ggttttcccc tcaacaattt
     1321 tgaagctgtg aaattaagta ccacaggcta taggcctaga gtatgctaca gtcacttaag
     1381 cataagctac agtatgtaaa ctaaaagggg gaatatatgc aatggttggc atttaaccat
     1441 ccaaacaaat catacaagaa agttttatga tttccagagt ttttgagcta gaaggagatc
     1501 aaattacatt tatgttccta tatattacaa catcggcgag gaaatgaaag cgattctcct
     1561 tgagttctga tgaattaaag gagtatgctt taaagtctat ttctttaaag ttttgtttaa
     1621 tatttacaga aaaatccaca tacagtattg gtaaaatgca ggattgttat ataccatcat
     1681 tcgaatcatc cttaaacact tgaatttata ttgtatggta gtatacttgg taagataaaa
     1741 ttccacaaaa atagggatgg tgcagcatat gcaatttcca ttcctattat aattgacaca
     1801 gtacattaac aatccatgcc aacggtgcta atacgatagg ctgaatgtct gaggctacca
     1861 ggtttatcac ataaaaaaca ttcagtaaaa tagtaagttt ctcttttctt caggtgcatt
     1921 ttcctacacc tccaaatgag gaatggattt tctttaatgt aagaagaatc atttttctag
     1981 aggttggctt tcaattctgt agcatacttg gagaaactgc attatcttaa aaggcagtca
     2041 aatggtgttt gtttttatca aaatgtcaaa ataacatact tggagaagta tgtaattttg
     2101 tctttggaaa attacaacac tgcctttgca acactgcagt ttttatggta aaataataga
     2161 aatgatcgac tctatcaata ttgtataaaa agactgaaac aatgcattta tataatatgt
     2221 atacaatatt gttttgtaaa taagtgtctc cttttttatt tactttggta tatttttaca
     2281 ctaaggacat ttcaaattaa gtactaaggc acaaagacat gtcatgcatc acagaaaagc
     2341 aactacttat atttcagagc aaattagcag attaaatagt ggtcttaaaa ctccatatgt
     2401 taatgattag atggttatat tacaatcatt ttatattttt ttacatgatt aacattcact
     2461 tatggattca tgatggctgt ataaagtgaa tttgaaattt caatggttta ctgtcattgt
     2521 gtttaaatct caacgttcca ttattttaat acttgcaaaa acattactaa gtataccaaa
     2581 ataattgact ctattatctg aaatgaagaa taaactgatg ctatctcaac aataactgtt
     2641 acttttattt tataatttga taatgaatat atttctgcat ttatttactt ctgttttgta
     2701 aattgggatt ttgttaatca aatttattgt actatgacta aatgaaatta tttcttacat
     2761 ctaatttgta gaaacagtat aagttatatt aaagtgtttt cacatttttt tgaaagaca
//
