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

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: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (46857872..46882182, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (46874270..46898580, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (46899362..46923672, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.
Title: Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.
Title: Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.
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.
Title: A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.
In Familial Hypertrophic Cardiomyopathy, the MYL3 Arg94His variant was associated with high disease penetrance and substantial interventricular septal hypertrophy
Title: Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
This is the first report of mutations in TPM1, MY L3, and MYL2 associated with primary, non-hypertrophied restrictive cardiomyopathy.
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.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
Cell-permeable peptide containing the 15 amino acid N-terminal peptide from human ventricular light chain-1 (VLC-1) enhanced myocardial contractility.
Title: Modulation of muscle contraction by a cell-permeable peptide.
Observational study of gene-disease association. (HuGE Navigator)
Title: Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
Title: Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 MedGen: C1837471 OMIM: 608751 GeneReviews: Hypertrophic Cardiomyopathy Overview	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

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69103 (e-PCR)
- UniSTS:54302

D3S3888 (e-PCR)
- UniSTS:75299

GDB:181219 (e-PCR)
- UniSTS:155187

D3S2827E (e-PCR)
- UniSTS:150863

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

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ATP-dependent activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of the force of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype 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

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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.