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

Gene ID: 4634, updated on 1-Mar-2024

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
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Genomic context

See MYL3 in Genome Data Viewer
Location:
3p21.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (46857872..46882182, complement)
RS_2023_10 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 ATAC-STARR-seq lymphoblastoid silent region 14294 Neighboring gene serine protease 44, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19799 Neighboring gene serine protease 42, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14296 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 ATAC-STARR-seq lymphoblastoid silent region 14297 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 ATAC-STARR-seq lymphoblastoid active region 19800 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 ATAC-STARR-seq lymphoblastoid active region 19802 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
 
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)

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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
    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
    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
    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
    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_10

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)