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

Summary

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
A recessive frameshift mutation in MYL4 causes early-onset atrial fibrillation.
Title: Large-scale whole-genome sequencing of the Icelandic population.
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.
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.
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.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

SHGC-11971 (e-PCR)
- UniSTS:7528

SHGC-30011 (e-PCR)
- UniSTS:38836

stSG610846 (e-PCR)
- UniSTS:448965

STS-X52005 (e-PCR)
- UniSTS:50889

RH11785 (e-PCR)
- UniSTS:79308

RH36477 (e-PCR)
- UniSTS:43724

D17S2190 (e-PCR)
- UniSTS:60136

Homology

Homologs of the MYL4 gene: The MYL4 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 287 organisms have orthologs with human gene MYL4
Orthologs

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 muscle filament sliding	TAS Traceable Author Statement more info
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

NG_052847.1 RefSeqGene

Range

5046..19663

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000017.11 Reference GRCh38.p13 Primary Assembly

Range

47209017..47227650

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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