LOCUS       NM_001080483             831 bp    mRNA    linear   PRI 03-AUG-2024
DEFINITION  Homo sapiens myomaker, myoblast fusion factor (MYMK), mRNA.
ACCESSION   NM_001080483 XM_372180
VERSION     NM_001080483.3
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 831)
  AUTHORS   Dugdale,H.F. and Ochala,J.
  TITLE     Can we talk about myoblast fusion?
  JOURNAL   Am J Physiol Cell Physiol 321 (3), C504-C506 (2021)
   PUBMED   34288723
  REMARK    GeneRIF: Can we talk about myoblast fusion?
REFERENCE   2  (bases 1 to 831)
  AUTHORS   Chen,B., You,W., Wang,Y. and Shan,T.
  TITLE     The regulatory role of Myomaker and Myomixer-Myomerger-Minion in
            muscle development and regeneration
  JOURNAL   Cell Mol Life Sci 77 (8), 1551-1569 (2020)
   PUBMED   31642939
  REMARK    GeneRIF: This articles reviews and discusses the latest studies
            related to Myomaker and Myomixer-Myomerger-Minion, including the
            discovery, structure, expression pattern, functions of the two
            proteins. [review]
            Review article
REFERENCE   3  (bases 1 to 831)
  AUTHORS   Alrohaif,H., Topf,A., Evangelista,T., Lek,M., McArthur,D. and
            Lochmuller,H.
  TITLE     Whole-exome sequencing identifies mutations in MYMK in a mild form
            of Carey-Fineman-Ziter syndrome
  JOURNAL   Neurol Genet 4 (2), e226 (2018)
   PUBMED   29560417
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 831)
  AUTHORS   Di Gioia,S.A., Connors,S., Matsunami,N., Cannavino,J., Rose,M.F.,
            Gilette,N.M., Artoni,P., de Macena Sobreira,N.L., Chan,W.M.,
            Webb,B.D., Robson,C.D., Cheng,L., Van Ryzin,C.,
            Ramirez-Martinez,A., Mohassel,P., Leppert,M., Scholand,M.B.,
            Grunseich,C., Ferreira,C.R., Hartman,T., Hayes,I.M., Morgan,T.,
            Markie,D.M., Fagiolini,M., Swift,A., Chines,P.S.,
            Speck-Martins,C.E., Collins,F.S., Jabs,E.W., Bonnemann,C.G.,
            Olson,E.N., Carey,J.C., Robertson,S.P., Manoli,I. and Engle,E.C.
  CONSRTM   Moebius Syndrome Research Consortium
  TITLE     A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
  JOURNAL   Nat Commun 8, 16077 (2017)
   PUBMED   28681861
  REMARK    GeneRIF: The data establish that MYMK activity is necessary for
            normal muscle development and maintenance in humans and zebrafish,
            and expand the spectrum of congenital myopathies to include
            cell-cell fusion deficits.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX324209.11.
            
            On May 17, 2019 this sequence version replaced NM_001080483.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DT932665.1, DT932666.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267779 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339996.4/ ENSP00000419712.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-250               BX324209.11        22640-22889         c
            251-365             BX324209.11        18104-18218         c
            366-514             BX324209.11        16804-16952         c
            515-631             BX324209.11        13421-13537         c
            632-831             BX324209.11        12516-12715         c
FEATURES             Location/Qualifiers
     source          1..831
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     gene            1..831
                     /gene="MYMK"
                     /gene_synonym="MYOMAKER; TMEM226; TMEM8C"
                     /note="myomaker, myoblast fusion factor"
                     /db_xref="GeneID:389827"
                     /db_xref="HGNC:HGNC:33778"
                     /db_xref="MIM:615345"
     exon            1..250
                     /gene="MYMK"
                     /gene_synonym="MYOMAKER; TMEM226; TMEM8C"
                     /inference="alignment:Splign:2.1.0"
     CDS             116..781
                     /gene="MYMK"
                     /gene_synonym="MYOMAKER; TMEM226; TMEM8C"
                     /note="transmembrane protein 226; transmembrane protein
                     8C; myoblast fusion maker"
                     /codon_start=1
                     /product="protein myomaker"
                     /protein_id="NP_001073952.1"
                     /db_xref="CCDS:CCDS35170.1"
                     /db_xref="GeneID:389827"
                     /db_xref="HGNC:HGNC:33778"
                     /db_xref="MIM:615345"
                     /translation="MGTLVAKLLLPTLSSLAFLPTVSIAAKRRFHMEAMVYLFTLFFV
                     ALHHACNGPGLSVLCFMRHDILEYFSVYGTALSMWVSLMALADFDEPKRSTFVMFGVL
                     TIAVRIYHDRWGYGVYSGPIGTAILIIAAKWLQKMKEKKGLYPDKSVYTQQIGPGLCF
                     GALALMLRFFFEDWDYTYVHSFYHCALAMSFVLLLPKVNKKAGSPGTPAKLDCSTLCC
                     ACV"
     exon            251..365
                     /gene="MYMK"
                     /gene_synonym="MYOMAKER; TMEM226; TMEM8C"
                     /inference="alignment:Splign:2.1.0"
     exon            366..514
                     /gene="MYMK"
                     /gene_synonym="MYOMAKER; TMEM226; TMEM8C"
                     /inference="alignment:Splign:2.1.0"
     exon            515..631
                     /gene="MYMK"
                     /gene_synonym="MYOMAKER; TMEM226; TMEM8C"
                     /inference="alignment:Splign:2.1.0"
     exon            632..831
                     /gene="MYMK"
                     /gene_synonym="MYOMAKER; TMEM226; TMEM8C"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agctgccatc agagccctgc ccaaagggag ctggccttcc cacttcgtgc tcctgtgctg
       61 gggacctggg acaccagcac cctccccacc ccagccagtg ctttcctcct ggcccatggg
      121 gacgctggtg gccaagctgc tcctgcccac cctcagcagc ctggccttcc tccccactgt
      181 cagcatcgcg gccaagaggc ggttccacat ggaggccatg gtctacctct tcaccctgtt
      241 cttcgtggcg ctccaccatg cctgcaatgg acccggcttg tctgtgctgt gcttcatgcg
      301 tcacgacatc ctggagtatt tcagtgtcta cgggacagcc ctgagcatgt gggtctcgct
      361 gatggcactg gccgacttcg acgaacccaa gaggtcaaca tttgtgatgt tcggcgtcct
      421 gaccattgct gtgcggatct accatgaccg atggggctac ggggtgtact cgggccccat
      481 cggcacagcc atcctcatca tcgcggcaaa gtggctacag aagatgaagg agaagaaggg
      541 cctgtaccca gacaagagcg tctacaccca gcagataggc cccggcctct gcttcggggc
      601 gctggccctg atgctacgct tcttctttga ggactgggac tacacttatg tccacagctt
      661 ctaccactgt gccctggcta tgtcctttgt tctgctgctg cccaaggtca acaagaaggc
      721 tggatccccg gggaccccgg ccaagctgga ctgctccacc ctgtgctgtg cttgtgtctg
      781 atgctgcgcc cagcccggct ctgagcccct gccctcccca gctcacactt g
//
