LOCUS       NM_000258                885 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens myosin light chain 3 (MYL3), transcript variant 1,
            mRNA.
ACCESSION   NM_000258
VERSION     NM_000258.3
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 885)
  AUTHORS   Yampolskaya,D.S., Kopylova,G.V., Shchepkin,D.V., Bershitsky,S.Y.,
            Matyushenko,A.M. and Levitsky,D.I.
  TITLE     Properties of Cardiac Myosin with Cardiomyopathic Mutations in
            Essential Light Chains
  JOURNAL   Biochemistry (Mosc) 87 (11), 1260-1267 (2022)
   PUBMED   36509720
  REMARK    GeneRIF: Properties of Cardiac Myosin with Cardiomyopathic
            Mutations in Essential Light Chains.
REFERENCE   2  (bases 1 to 885)
  AUTHORS   Osborn,D.P.S., Emrahi,L., Clayton,J., Tabrizi,M.T., Wan,A.Y.B.,
            Maroofian,R., Yazdchi,M., Garcia,M.L.E., Galehdari,H., Hesse,C.,
            Shariati,G., Mazaheri,N., Sedaghat,A., Goullee,H., Laing,N.,
            Jamshidi,Y. and Tajsharghi,H.
  TITLE     Autosomal recessive cardiomyopathy and sudden cardiac death
            associated with variants in MYL3
  JOURNAL   Genet Med 23 (4), 787-792 (2021)
   PUBMED   33288880
  REMARK    GeneRIF: Autosomal recessive cardiomyopathy and sudden cardiac
            death associated with variants in MYL3.
REFERENCE   3  (bases 1 to 885)
  AUTHORS   Rani,D.S., Nallari,P., Rani,J., Nizamuddin,S., Seelamneni,T.,
            Narasimhan,C. and Thangaraj,K.
  TITLE     A Complete Absence of Missense Mutation in Myosin Regulatory and
            Essential Light Chain Genes of South Indian Hypertrophic and
            Dilated Cardiomyopathies
  JOURNAL   Cardiology 141 (3), 156-166 (2018)
   PUBMED   30605904
  REMARK    GeneRIF: The study revealed a total of 10 variations - 7 in MYL2
            and 3 in MYL3, of which 3 are novel variations observed exclusively
            in cases. MYL2 and MYL3 mutations are rare and the least cause of
            cardiomyopathies in Indians.
REFERENCE   4  (bases 1 to 885)
  AUTHORS   Nomura,A., Tada,H., Teramoto,R., Konno,T., Hodatsu,A., Won,H.H.,
            Kathiresan,S., Ino,H., Fujino,N., Yamagishi,M. and Hayashi,K.
  TITLE     Whole exome sequencing combined with integrated variant annotation
            prediction identifies a causative myosin essential light chain
            variant in hypertrophic cardiomyopathy
  JOURNAL   J Cardiol 67 (2), 133-139 (2016)
   PUBMED   26443374
  REMARK    GeneRIF: In Familial Hypertrophic Cardiomyopathy, the MYL3 Arg94His
            variant was associated with high disease penetrance and substantial
            interventricular septal hypertrophy
REFERENCE   5  (bases 1 to 885)
  AUTHORS   Caleshu,C., Sakhuja,R., Nussbaum,R.L., Schiller,N.B., Ursell,P.C.,
            Eng,C., De Marco,T., McGlothlin,D., Burchard,E.G. and Rame,J.E.
  TITLE     Furthering the link between the sarcomere and primary
            cardiomyopathies: restrictive cardiomyopathy associated with
            multiple mutations in genes previously associated with hypertrophic
            or dilated cardiomyopathy
  JOURNAL   Am J Med Genet A 155A (9), 2229-2235 (2011)
   PUBMED   21823217
  REMARK    GeneRIF: This is the first report of mutations in TPM1, MY L3, and
            MYL2 associated with primary, non-hypertrophied restrictive
            cardiomyopathy.
REFERENCE   6  (bases 1 to 885)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301725
REFERENCE   7  (bases 1 to 885)
  AUTHORS   Shi,Q., Li,R.K., Mickle,D.A. and Jackowski,G.
  TITLE     Analysis of the upstream regulatory region of human ventricular
            myosin light chain 1 gene
  JOURNAL   J Mol Cell Cardiol 24 (11), 1221-1229 (1992)
   PUBMED   1479618
REFERENCE   8  (bases 1 to 885)
  AUTHORS   Fodor,W.L., Darras,B., Seharaseyon,J., Falkenthal,S., Francke,U.
            and Vanin,E.F.
  TITLE     Human ventricular/slow twitch myosin alkali light chain gene
            characterization, sequence, and chromosomal location
  JOURNAL   J Biol Chem 264 (4), 2143-2149 (1989)
   PUBMED   2789520
REFERENCE   9  (bases 1 to 885)
  AUTHORS   Cohen-Haguenauer,O., Barton,P.J., Van Cong,N., Cohen,A., Masset,M.,
            Buckingham,M. and Frezal,J.
  TITLE     Chromosomal assignment of two myosin alkali light-chain genes
            encoding the ventricular/slow skeletal muscle isoform and the
            atrial/fetal muscle isoform (MYL3, MYL4)
  JOURNAL   Hum Genet 81 (3), 278-282 (1989)
   PUBMED   2784124
REFERENCE   10 (bases 1 to 885)
  AUTHORS   Stragier,P., Kunkel,B., Kroos,L. and Losick,R.
  TITLE     Chromosomal rearrangement generating a composite gene for a
            developmental transcription factor
  JOURNAL   Science 243 (4890), 507-512 (1989)
   PUBMED   2536191
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP316922.1 and AJ709328.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000258.2.
            
            Summary: MYL3 encodes myosin light chain 3, an alkali light chain
            also referred to in the literature as both the ventricular isoform
            and the slow skeletal muscle isoform. Mutations in MYL3 have been
            identified as a cause of mid-left ventricular chamber type
            hypertrophic cardiomyopathy. [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 :: BC009790.1, CF552959.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154361, SAMN03267751
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000292327.6/ ENSP00000292327.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-478               BP316922.1         40-517
            479-885             AJ709328.1         47-453
FEATURES             Location/Qualifiers
     source          1..885
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..885
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="myosin light chain 3"
                     /db_xref="GeneID:4634"
                     /db_xref="HGNC:HGNC:7584"
                     /db_xref="MIM:160790"
     exon            1..183
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..642
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myosin, light polypeptide 3, alkali; ventricular,
                     skeletal, slow; CMLC1; myosin, light chain 3, alkali;
                     ventricular, skeletal, slow; ventricular/slow twitch
                     myosin alkali light chain; ventricular myosin alkali light
                     chain; ventricular myosin light chain 1; cardiac myosin
                     light chain 1"
                     /codon_start=1
                     /product="myosin light chain 3 isoform 1"
                     /protein_id="NP_000249.1"
                     /db_xref="CCDS:CCDS2746.1"
                     /db_xref="GeneID:4634"
                     /db_xref="HGNC:HGNC:7584"
                     /db_xref="MIM:160790"
                     /translation="MAPKKPEPKKDDAKAAPKAAPAPAPPPEPERPKEVEFDASKIKI
                     EFTPEQIEEFKEAFMLFDRTPKCEMKITYGQCGDVLRALGQNPTQAEVLRVLGKPRQE
                     ELNTKMMDFETFLPMLQHISKNKDTGTYEDFVEGLRVFDKEGNGTVMGAELRHVLATL
                     GERLTEDEVEKLMAGQEDSNGCINYEAFVKHIMSS"
     exon            184..211
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /inference="alignment:Splign:2.1.0"
     exon            212..361
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /inference="alignment:Splign:2.1.0"
     exon            362..535
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /inference="alignment:Splign:2.1.0"
     exon            536..613
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /inference="alignment:Splign:2.1.0"
     exon            614..655
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /inference="alignment:Splign:2.1.0"
     exon            656..885
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /inference="alignment:Splign:2.1.0"
     regulatory      860..865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="hexamer: AATAAA"
     polyA_site      885
                     /gene="MYL3"
                     /gene_synonym="CMH8; MLC-lV/sb; MLC1SB; MLC1V; VLC1; VLCl"
                     /note="major polyA site"
ORIGIN      
        1 accctgcttt ctgcattctt ctctccacat ccctctctgt acttacagcc cccaatggcc
       61 cccaaaaagc cagagcccaa gaaggatgat gccaaggcag cccccaaggc agctccagct
      121 cccgcacctc cccctgagcc tgagcgccct aaggaggtcg agtttgatgc ttccaagatc
      181 aagattgagt tcacacctga gcagattgaa gagttcaagg aagccttcat gctgttcgac
      241 cgcacaccca agtgtgagat gaagatcacc tacgggcagt gtggggatgt cctgcgggcg
      301 ctgggccaga accccacaca ggcagaagtg ctccgtgtcc tggggaagcc aagacaggaa
      361 gagctcaata ccaagatgat ggactttgaa actttcctgc ctatgctcca gcacatttcc
      421 aagaacaagg acacaggcac ctatgaggac ttcgtggagg ggctgcgggt cttcgacaag
      481 gagggcaatg gcactgtcat gggtgctgag cttcgccacg tgctggccac gctgggtgag
      541 aggctgacag aagacgaagt ggagaagttg atggctgggc aagaggactc caatggctgc
      601 atcaactatg aagcatttgt gaagcacatc atgtccagct aaacctcgtg cccaggaagc
      661 ccagggaagg ctgtgcaggg acgtctcatc tcccatgtgt gatgctgaca ccagcggcct
      721 ggagtcgtgg gaaggagggg agccttacca agactcctgc aaaaaccctt ggacctctcc
      781 acgtggttgc cgtctctggc ccctctcagg ctgtgcttac ctgtgacagc agctctgtcc
      841 ccaccccatg ggcctcatga ataaatggct tcttgccggc cttcc
//
