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

Gene ID: 4634, updated on 1-Aug-2020

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
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

Genomic context

See MYL3 in Genome Data Viewer
Location:
3p21.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (46857872..46863444, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46899357..46904973, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene serine protease 44, pseudogene Neighboring gene serine protease 42, pseudogene Neighboring gene parathyroid hormone 1 receptor Neighboring gene coiled-coil domain containing 12 Neighboring gene Sharpr-MPRA regulatory region 2536

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
Familial hypertrophic cardiomyopathy 8
MedGen: C1837471 OMIM: 608751
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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin monomer binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
myosin II heavy chain binding NAS
Non-traceable Author Statement
more info
PubMed 
structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
positive regulation of ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of striated muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of the force of heart contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
A band IDA
Inferred from Direct Assay
more info
PubMed 
I band IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
muscle myosin complex TAS
Traceable Author Statement
more info
PubMed 
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 1, slow-twitch muscle B/ventricular isoform
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)

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

    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
    P08590
    UniProtKB/TrEMBL
    A0A024R2Q5
    Related
    ENSP00000292327.4, ENST00000292327.6
    Conserved Domains (1) summary
    cl25352
    Location:44194
    EFh_PEF; The penta-EF hand (PEF) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    46857872..46863444 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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