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MYL4 myosin light chain 4 [ Homo sapiens (human) ]

Gene ID: 4635, updated on 8-Jul-2021

Summary

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Official Symbol
MYL4provided by HGNC
Official Full Name
myosin light chain 4provided by HGNC
Primary source
HGNC:HGNC:7585
See related
Ensembl:ENSG00000198336 MIM:160770
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
GT1; ALC1; AMLC; PRO1957
Summary
Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward heart (RPKM 587.0) See more
Orthologs
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Genomic context

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See MYL4 in Genome Data Viewer
Location:
17q21.32
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (47209017..47227650)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45286394..45301045)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene cell division cycle 27 Neighboring gene ribosomal protein S2 pseudogene 47 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3215 Neighboring gene RNA, U7 small nuclear 186 pseudogene Neighboring gene integrin subunit beta 3 Neighboring gene uncharacterized LOC107985029

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation. Gudbjartsson DF, et al. Eur Heart J, 2017 Jan 1. PMID 27742809
  2. Human atrial myosin light chain 1 expression attenuates heart failure. Abdelaziz AI, et al. Adv Exp Med Biol, 2005. PMID 16106982
  3. Proteomic analysis of pharmacologically preconditioned cardiomyocytes reveals novel phosphorylation of myosin light chain 1. Arrell DK, et al. Circ Res, 2001 Sep 14. PMID 11557734
  4. Tuning the human heart molecular motors by myosin light chains. Morano I. J Mol Med (Berl), 1999 Jul. PMID 10494800
  5. Size and charge requirements for kinetic modulation and actin binding by alkali 1-type myosin essential light chains. Timson DJ, et al. J Biol Chem, 1999 Jun 25. PMID 10373429

See all (33) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Metastable Atrial State Underlies the Primary Genetic Substrate for MYL4 Mutation-Associated Atrial Fibrillation.
    Title: Metastable Atrial State Underlies the Primary Genetic Substrate for MYL4 Mutation-Associated Atrial Fibrillation.
  2. The authors describe in a population approach a loss of function mutation in the myosin gene MYL4 that, in the homozygous state, is completely penetrant for early-onset AF. The finding may provide novel mechanistic insight into the pathophysiology of this complex arrhythmia.
    Title: A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.
  3. a novel, heterozygous p.Glu11Lys mutation in the atrial-specific myosin light chain gene MYL4, caused atrial fibrillation.
    Title: A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.
  4. A recessive frameshift mutation in MYL4 causes early-onset atrial fibrillation.
    Title: Large-scale whole-genome sequencing of the Icelandic population.
  5. results demonstrate that the expression of hALC-1 could have a beneficial effect on the overloaded hypertrophied heart
    Title: Human atrial myosin light chain 1 expression attenuates heart failure.
  6. The N-terminus of this protein is an actin binding site.
    Title: The N-terminus of A1-type myosin essential light chains binds actin and modulates myosin motor function.
  7. The (Ala-Pro) rich part of this protein acts as a "spacer arm" responsible for correct positioning of the N-terminal actin binding site.
    Title: The rôle of the proline-rich region in A1-type myosin essential light chains: implications for information transmission in the actomyosin complex.
  8. NMR showed involvement of N-terminus and lysines 3 and 4 in interaction with actin. Mutations of these lysines (K3A,K4R,K4A,K4D) resulted in altered actin binding and actin activated MgATPase. Mutation of Ala-1 to val had no effect on binding or kinetics.
    Title: Size and charge requirements for kinetic modulation and actin binding by alkali 1-type myosin essential light chains.
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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

Associated conditions

Description Tests
Atrial fibrillation, familial, 18
MedGen: C4310636 OMIM: 617280 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 
Process Evidence Code Pubs
involved_in cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of ATPase activity 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 
Component Evidence Code Pubs
located_in A band IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of myosin complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
myosin light chain 4
Names
atrial myosin light chain 1
myosin, atrial/fetal muscle, light chain
myosin, light chain 4, alkali; atrial, embryonic
myosin, light polypeptide 4, alkali; atrial, embryonic

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_052847.1 RefSeqGene

    Range
    5046..19663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001002841.2 → NP_001002841.1  myosin light chain 4

    See identical proteins and their annotated locations for NP_001002841.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AC087649, BC030228, BU658678, H83803
    Consensus CDS
    CCDS11510.1
    UniProtKB/Swiss-Prot
    P12829
    Related
    ENSP00000347055.1, ENST00000354968.5
    Conserved Domains (1) summary
    PTZ00184
    Location:49 → 196
    PTZ00184; calmodulin; Provisional

  2. NM_002476.2 → NP_002467.1  myosin light chain 4

    See identical proteins and their annotated locations for NP_002467.1

    Status: REVIEWED

    Source sequence(s)
    X58851
    Consensus CDS
    CCDS11510.1
    UniProtKB/Swiss-Prot
    P12829
    Related
    ENSP00000377096.1, ENST00000393450.5
    Conserved Domains (1) summary
    PTZ00184
    Location:49 → 196
    PTZ00184; calmodulin; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    47209017..47227650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024683.1 → XP_016880172.1  myosin light chain 4 isoform X1

    Conserved Domains (1) summary
    cl25352
    Location:86 → 227
    EFh_PEF; The penta-EF hand (PEF) family

  2. XM_005257391.5 → XP_005257448.1  myosin light chain 4 isoform X2

    See identical proteins and their annotated locations for XP_005257448.1

    UniProtKB/Swiss-Prot
    P12829
    Related
    ENSP00000461570.1, ENST00000572316.5
    Conserved Domains (1) summary
    PTZ00184
    Location:49 → 196
    PTZ00184; calmodulin; Provisional

  3. XM_011524839.2 → XP_011523141.2  myosin light chain 4 isoform X1

    Conserved Domains (1) summary
    cl25352
    Location:86 → 227
    EFh_PEF; The penta-EF hand (PEF) family

  4. XM_024450766.1 → XP_024306534.1  myosin light chain 4 isoform X1

    Conserved Domains (1) summary
    cl25352
    Location:86 → 227
    EFh_PEF; The penta-EF hand (PEF) family
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P12829.3 GenPept UniProtKB/Swiss-Prot:P12829

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