LOCUS       NM_079422                856 bp    mRNA    linear   PRI 18-JUL-2024
DEFINITION  Homo sapiens myosin light chain 1 (MYL1), transcript variant 3f,
            mRNA.
ACCESSION   NM_079422
VERSION     NM_079422.3
KEYWORDS    RefSeq.
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 856)
  AUTHORS   Li,C., Guan,R., Li,W., Wei,D., Cao,S., Chang,F., Wei,Q., Wei,R.,
            Chen,L., Xu,C., Wu,K. and Lei,D.
  TITLE     Analysis of myosin genes in HNSCC and identify MYL1 as a specific
            poor prognostic biomarker, promotes tumor metastasis and correlates
            with tumor immune infiltration in HNSCC
  JOURNAL   BMC Cancer 23 (1), 840 (2023)
   PUBMED   37679666
  REMARK    GeneRIF: Analysis of myosin genes in HNSCC and identify MYL1 as a
            specific poor prognostic biomarker, promotes tumor metastasis and
            correlates with tumor immune infiltration in HNSCC.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 856)
  AUTHORS   Wang,J., Gao,S., Dong,K., Guo,P. and Shan,M.J.
  TITLE     MYL2 as a potential predictive biomarker for rhabdomyosarcoma
  JOURNAL   Medicine (Baltimore) 100 (39), e27101 (2021)
   PUBMED   34596111
  REMARK    GeneRIF: MYL2 as a potential predictive biomarker for
            rhabdomyosarcoma.
REFERENCE   3  (bases 1 to 856)
  AUTHORS   Chen,Z., Li,X.Y., Guo,P. and Wang,D.L.
  TITLE     MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma
  JOURNAL   Technol Cancer Res Treat 20, 1533033820979669 (2021)
   PUBMED   33499774
  REMARK    GeneRIF: MYBPC2 and MYL1 as Significant Gene Markers for
            Rhabdomyosarcoma.
REFERENCE   4  (bases 1 to 856)
  AUTHORS   Ravenscroft,G., Zaharieva,I.T., Bortolotti,C.A., Lambrughi,M.,
            Pignataro,M., Borsari,M., Sewry,C.A., Phadke,R., Haliloglu,G.,
            Ong,R., Goullee,H., Whyte,T., Consortium,U.K., Manzur,A., Talim,B.,
            Kaya,U., Osborn,D.P.S., Forrest,A.R.R., Laing,N.G. and Muntoni,F.
  TITLE     Bi-allelic mutations in MYL1 cause a severe congenital myopathy
  JOURNAL   Hum Mol Genet 27 (24), 4263-4272 (2018)
   PUBMED   30215711
  REMARK    GeneRIF: Our data implicate MYL1 as a crucial protein for adequate
            skeletal muscle function and that MYL1 deficiency is associated
            with severe congenital myopathy.
REFERENCE   5  (bases 1 to 856)
  AUTHORS   Logvinova,D.S., Matyushenko,A.M., Nikolaeva,O.P. and Levitsky,D.I.
  TITLE     Transient interaction between the N-terminal extension of the
            essential light chain-1 and motor domain of the myosin head during
            the ATPase cycle
  JOURNAL   Biochem Biophys Res Commun 495 (1), 163-167 (2018)
   PUBMED   29102634
  REMARK    GeneRIF: These results support the concept of the ATP-induced
            transient interaction of the essential light chain-1 N-terminus
            with the motor domain of the myosin head.
REFERENCE   6  (bases 1 to 856)
  AUTHORS   Hailstones,D.L. and Gunning,P.W.
  TITLE     Characterization of human myosin light chains 1sa and 3nm:
            implications for isoform evolution and function
  JOURNAL   Mol Cell Biol 10 (3), 1095-1104 (1990)
   PUBMED   2304459
REFERENCE   7  (bases 1 to 856)
  AUTHORS   Seidel,U. and Arnold,H.H.
  TITLE     Identification of the functional promoter regions in the human gene
            encoding the myosin alkali light chains MLC1 and MLC3 of fast
            skeletal muscle
  JOURNAL   J Biol Chem 264 (27), 16109-16117 (1989)
   PUBMED   2777779
REFERENCE   8  (bases 1 to 856)
  AUTHORS   Seidel,U., Bober,E., Winter,B., Lenz,S., Lohse,P., Goedde,H.W.,
            Grzeschik,K.H. and Arnold,H.H.
  TITLE     Alkali myosin light chains in man are encoded by a multigene family
            that includes the adult skeletal muscle, the embryonic or atrial,
            and nonsarcomeric isoforms
  JOURNAL   Gene 66 (1), 135-146 (1988)
   PUBMED   2458299
REFERENCE   9  (bases 1 to 856)
  AUTHORS   Cohen-Haguenauer,O., Barton,P.J., Nguyen,V.C., Serero,S.,
            Gross,M.S., Jegou-Foubert,C., de Tand,M.F., Robert,B.,
            Buckingham,M. and Frezal,J.
  TITLE     Assignment of the human fast skeletal muscle myosin alkali light
            chains gene (MLC1F/MLC3F) to 2q 32.1-2qter
  JOURNAL   Hum Genet 78 (1), 65-70 (1988)
   PUBMED   3422212
REFERENCE   10 (bases 1 to 856)
  AUTHORS   Seidel,U., Bober,E., Winter,B., Lenz,S., Lohse,P. and Arnold,H.H.
  TITLE     The complete nucleotide sequences of cDNA clones coding for human
            myosin light chains 1 and 3
  JOURNAL   Nucleic Acids Res 15 (12), 4989 (1987)
   PUBMED   3601661
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005318.1 and AA705167.1.
            
            On May 31, 2019 this sequence version replaced NM_079422.2.
            
            Summary: Myosin is a hexameric ATPase cellular motor protein. It is
            composed of two heavy chains, two nonphosphorylatable alkali light
            chains, and two phosphorylatable regulatory light chains. This gene
            encodes a myosin alkali light chain expressed in fast skeletal
            muscle. Two transcript variants have been identified for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3f) encodes a protein that is 44
            aa shorter than isoform 1f. Transcript variants 3f and 1f differ in
            their first two exons.
            
            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 :: DRR138525.50095.1,
                                           DRR138525.100254.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162946 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-852               BC005318.1         1-852
            853-856             AA705167.1         7-10                c
FEATURES             Location/Qualifiers
     source          1..856
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q34"
     gene            1..856
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /note="myosin light chain 1"
                     /db_xref="GeneID:4632"
                     /db_xref="HGNC:HGNC:7582"
                     /db_xref="MIM:160780"
     exon            1..74
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..524
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /note="isoform 3f is encoded by transcript variant 3f;
                     myosin, light polypeptide 1, alkali; skeletal, fast; A1
                     catalytic; A2 catalytic; MLC1/MLC3; MLC1F/MLC3F; myosin
                     light chain A1/A2; myosin light chain alkali 1/2; myosin,
                     light chain 1, alkali; skeletal, fast"
                     /codon_start=1
                     /product="myosin light chain 1/3, skeletal muscle isoform
                     isoform 3f"
                     /protein_id="NP_524146.1"
                     /db_xref="CCDS:CCDS2391.1"
                     /db_xref="GeneID:4632"
                     /db_xref="HGNC:HGNC:7582"
                     /db_xref="MIM:160780"
                     /translation="MSFSADQIAEFKEAFLLFDRTGDSKITLSQVGDVLRALGTNPTN
                     AEVRKVLGNPSNEELNAKKIEFEQFLPMMQAISNNKDQATYEDFVEGLRVFDKEGNGT
                     VMGAELRHVLATLGEKMKEEEVEALMAGQEDSNGCINYEAFVKHIMSI"
     exon            75..99
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /inference="alignment:Splign:2.1.0"
     exon            100..243
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /inference="alignment:Splign:2.1.0"
     exon            244..417
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /inference="alignment:Splign:2.1.0"
     exon            418..495
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /inference="alignment:Splign:2.1.0"
     exon            496..538
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /inference="alignment:Splign:2.1.0"
     exon            539..856
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      748..753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /note="hexamer: AATAAA"
     polyA_site      770
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /note="major polyA site"
     regulatory      831..836
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /note="hexamer: AATAAA"
     polyA_site      856
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /note="major polyA site"
ORIGIN      
        1 actcagggac cggagcagcc ctcaactcac tcttcagctt ccctgctgtg ttgcagccca
       61 gccgctccat catgtccttc agtgctgacc agattgctga attcaaggag gcatttctcc
      121 tgtttgacag aacaggtgat tccaagatca ccttaagcca ggtcggtgat gtccttcgag
      181 ctctgggcac aaatcccacc aatgcagagg tcaggaaagt tctgggaaac cccagcaatg
      241 aagagctgaa tgccaagaaa attgagtttg aacaatttct gcctatgatg caagccattt
      301 ccaacaacaa ggaccaggcc acctatgaag actttgttga gggtctgcgt gtctttgaca
      361 aggaaggcaa tggcacagtc atgggtgctg aactccgcca tgttctagcc accctgggtg
      421 aaaagatgaa agaggaagaa gtggaagccc tgatggcagg tcaagaagac tccaatggct
      481 gcatcaacta cgaagctttt gtcaagcaca tcatgtctat ctgaatggag ctctcaagaa
      541 caagcattgt ttaggaagac tggctggaaa cttattttaa tcacacccat gacaaactct
      601 ccagatctgt ttaccatcat tcaggaaaac aaagcaatct ggacggttca agactgagca
      661 actccctgaa tttttataca tcttcagttt ttctctgaat tgaattcata ccacacaaac
      721 aaagtgtctg ctgctctaga tgagaagaat aaaatattga caatctcaaa tccaagcacc
      781 attctttatt atctaccatg aatcaacaaa cattcttaaa acaataaatc aataaacaat
      841 tttggtcagt ctggaa
//
