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MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow [ Homo sapiens (human) ]

Gene ID: 4634, updated on 26-Nov-2014
Official Symbol
MYL3provided by HGNC
Official Full Name
myosin, light chain 3, alkali; ventricular, skeletal, slowprovided by HGNC
Primary source
HGNC:HGNC:7584
See related
Ensembl:ENSG00000160808; HPRD:01183; MIM:160790; Vega:OTTHUMG00000133516
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; MLC1V; MLC1SB
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]
See MYL3 in Epigenomics, MapViewer
Location:
3p21.3-p21.2
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (46857867..46863483, 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 protease, serine, 44 Neighboring gene protease, serine, 42 Neighboring gene parathyroid hormone 1 receptor Neighboring gene coiled-coil domain containing 12 Neighboring gene neurobeachin-like 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 Compare labs

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

  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
    Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Cardiac muscle contraction, conserved biosystem (from KEGG)
    Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
Products Interactant Other Gene Complex Source Pubs Description

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
 
motor activity 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 
metabolic process IEA
Inferred from Electronic Annotation
more info
 
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 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
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 
Preferred Names
myosin light chain 3
Names
myosin light chain 3
CMLC1
cardiac myosin light chain 1
ventricular/slow twitch myosin alkali light chain
myosin light chain 1, slow-twitch muscle B/ventricular isoform
myosin, light polypeptide 3, alkali; ventricular, skeletal, slow

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 

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

mRNA and Protein(s)

  1. NM_000258.2NP_000249.1  myosin light chain 3

    See proteins identical to NP_000249.1

    Status: REVIEWED

    Source sequence(s)
    AJ709328, BP316922
    Consensus CDS
    CCDS2746.1
    UniProtKB/TrEMBL
    A0A024R2Q5
    UniProtKB/Swiss-Prot
    P08590
    Related
    ENSP00000292327, OTTHUMP00000164785, ENST00000292327, OTTHUMT00000257482
    Conserved Domains (2) summary
    PTZ00184
    Location:44194
    PTZ00184; calmodulin; Provisional
    cd00051
    Location:132193
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    46857867..46863483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    46849457..46855073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    46942461..46948077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)