LOCUS       NP_524144                194 aa            linear   PRI 18-JUL-2024
DEFINITION  myosin light chain 1/3, skeletal muscle isoform isoform 1f [Homo
            sapiens].
ACCESSION   NP_524144
VERSION     NP_524144.1
DBSOURCE    REFSEQ: accession NM_079420.3
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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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 (residues 1 to 194)
  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 AC021150.9, DA898482.1,
            CR456869.1 and AA705167.1.
            
            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 (1f) encodes a protein that is 44
            aa longer than isoform 3f. Transcript variants 1f and 3f 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 :: ERR279865.91.1, ERR279835.5629.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162946 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000352451.4/ ENSP00000307280.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q34"
     Protein         1..194
                     /product="myosin light chain 1/3, skeletal muscle isoform
                     isoform 1f"
                     /note="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"
                     /calculated_mol_wt=21014
     Region          1..35
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P05976.3)"
     Site            2
                     /site_type="methylation"
                     /note="N,N,N-trimethylalanine.
                     /evidence=ECO:0000250|UniProtKB:P02602; propagated from
                     UniProtKB/Swiss-Prot (P05976.3)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine. /evidence=ECO:0000305; propagated
                     from UniProtKB/Swiss-Prot (P05976.3)"
     Region          45..193
                     /region_name="PTZ00184"
                     /note="calmodulin; Provisional"
                     /db_xref="CDD:185504"
     Site            71
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02600; propagated from
                     UniProtKB/Swiss-Prot (P05976.3)"
     Site            73
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02600; propagated from
                     UniProtKB/Swiss-Prot (P05976.3)"
     Site            87
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:P02600; propagated from
                     UniProtKB/Swiss-Prot (P05976.3)"
     Site            99
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P02600; propagated from
                     UniProtKB/Swiss-Prot (P05976.3)"
     CDS             1..194
                     /gene="MYL1"
                     /gene_synonym="CMYO14; CMYP14; MLC-1; MLC1; MLC1/3; MLC1F;
                     MLC3F; MYOFTA"
                     /coded_by="NM_079420.3:133..717"
                     /note="isoform 1f is encoded by transcript variant 1f"
                     /db_xref="CCDS:CCDS2390.1"
                     /db_xref="GeneID:4632"
                     /db_xref="HGNC:HGNC:7582"
                     /db_xref="MIM:160780"
ORIGIN      
        1 mapkkdvkkp vaaaaaapap apapapapap akpkeekidl saikiefske qqdefkeafl
       61 lfdrtgdski tlsqvgdvlr algtnptnae vrkvlgnpsn eelnakkief eqflpmmqai
      121 snnkdqatye dfveglrvfd kegngtvmga elrhvlatlg ekmkeeevea lmagqedsng
      181 cinyeafvkh imsi
//
