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    MYL3 myosin light chain 3 [ Homo sapiens (human) ]

    Gene ID: 4634, updated on 7-Sep-2023

    Summary

    Official Symbol
    MYL3provided by HGNC
    Official Full Name
    myosin light chain 3provided by HGNC
    Primary source
    HGNC:HGNC:7584
    See related
    Ensembl:ENSG00000160808 MIM:160790; AllianceGenome:HGNC:7584
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMH8; VLC1; VLCl; MLC1V; MLC1SB; MLC-lV/sb
    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]
    Expression
    Restricted expression toward heart (RPKM 677.8) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MYL3 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (46857872..46882182, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (46874270..46898580, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46899362..46904934, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46853020-46853644 Neighboring gene serine protease 44, pseudogene Neighboring gene serine protease 42, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46887749-46888482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46890183-46891010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46901786-46902286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46914744-46915598 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46929375-46930132 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46930133-46930890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46931649-46932404 Neighboring gene parathyroid hormone 1 receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46950549-46951124 Neighboring gene Sharpr-MPRA regulatory region 5172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46966125-46966626 Neighboring gene BLVRB pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46972095-46972610 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:46972611-46973126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46975255-46976022 Neighboring gene Sharpr-MPRA regulatory region 2536 Neighboring gene coiled-coil domain containing 12 Neighboring gene uncharacterized LOC124909375

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYL3 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Hypertrophic cardiomyopathy 8 Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2015-11-18)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2015-11-18)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Treatment of human brain endothelial cells with Tat markedly elevates GTP-RhoA levels and the potential downstream effectors, such as myosin phosphatase target subunit 1 and myosin light chain PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin monomer binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables myosin II heavy chain binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in A band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in I band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of muscle myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in sarcomere TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    myosin light chain 3
    Names
    CMLC1
    cardiac myosin light chain 1
    myosin, light chain 3, alkali; ventricular, skeletal, slow
    myosin, light polypeptide 3, alkali; ventricular, skeletal, slow
    ventricular myosin alkali light chain
    ventricular myosin light chain 1
    ventricular/slow twitch myosin alkali light chain

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007555.2 RefSeqGene

      Range
      23687..29303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_395

    mRNA and Protein(s)

    1. NM_000258.3NP_000249.1  myosin light chain 3 isoform 1

      See identical proteins and their annotated locations for NP_000249.1

      Status: REVIEWED

      Source sequence(s)
      AJ709328, BP316922
      Consensus CDS
      CCDS2746.1
      UniProtKB/Swiss-Prot
      B2R534, P08590, Q9NRS8
      UniProtKB/TrEMBL
      A0A024R2Q5
      Related
      ENSP00000292327.4, ENST00000292327.6
      Conserved Domains (1) summary
      PTZ00184
      Location:44194
      PTZ00184; calmodulin; Provisional
    2. NM_001406937.1NP_001393866.1  myosin light chain 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC109583
      Consensus CDS
      CCDS2746.1
      UniProtKB/Swiss-Prot
      B2R534, P08590, Q9NRS8
      UniProtKB/TrEMBL
      A0A024R2Q5
      Related
      ENSP00000379210.1, ENST00000395869.5
    3. NM_001406938.1NP_001393867.1  myosin light chain 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC109583
      UniProtKB/Swiss-Prot
      B2R534, P08590, Q9NRS8
      UniProtKB/TrEMBL
      A0A024R2Q5
      Related
      ENSP00000393455.2, ENST00000431168.2
    4. NM_001406939.1NP_001393868.1  myosin light chain 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC109583
      UniProtKB/Swiss-Prot
      B2R534, P08590, Q9NRS8
      UniProtKB/TrEMBL
      A0A024R2Q5
      Related
      ENSP00000499577.1, ENST00000662933.1
    5. NM_001406940.1NP_001393869.1  myosin light chain 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC109583
      Related
      ENST00000664891.1
    6. NM_001406941.1NP_001393870.1  myosin light chain 3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC109583
      Related
      ENST00000655244.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      46857872..46882182 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      46874270..46898580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)