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; Vega:OTTHUMG00000178232
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

Genomic context

Location:: 17q21.32

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	17	NC_000017.11 (47209017..47227650)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (45266728..45301045)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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 Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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.

Submit: New GeneRIF Correction

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

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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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...
Apelin signaling pathway, organism-specific biosystem (from KEGG)
Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
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...
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.
Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
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....
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...

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: 175 organisms have orthologs with human gene MYL4
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
actin filament binding	IMP Inferred from Mutant Phenotype more info	PubMed
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

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	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of the force of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
A band	IMP Inferred from Mutant Phenotype more info	PubMed
cytosol	TAS Traceable Author Statement more info
myosin complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myosin light chain 4

Names: myosin light chain 1, embryonic muscle/atrial isoform; myosin light chain alkali GT-1 isoform; 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_001002841.1 → 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)

BC030228, BU658678, H83803

Consensus CDS

CCDS11510.1

UniProtKB/Swiss-Prot

P12829

Related

ENSP00000347055.1, ENST00000354968.5

Conserved Domains (2) summary

PTZ00184
Location:49 → 196

PTZ00184; calmodulin; Provisional

cd00051
Location:134 → 195

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

See identical proteins and their annotated locations for NP_002467.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks the 5' exon but has an alternate 5' end, as compared to variant 1.

Source sequence(s)

X58851

Consensus CDS

CCDS11510.1

UniProtKB/Swiss-Prot

P12829

Related

ENSP00000377096.1, OTTHUMP00000258893, ENST00000393450.5, OTTHUMT00000441064

Conserved Domains (2) summary

PTZ00184
Location:49 → 196

PTZ00184; calmodulin; Provisional

cd00051
Location:134 → 195

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 109 details...

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

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p12 Primary Assembly

Range

47209017..47227650

Download

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, OTTHUMP00000258888, ENST00000572316.5

Conserved Domains (2) summary

PTZ00184
Location:49 → 196

PTZ00184; calmodulin; Provisional

cd00051
Location:134 → 195

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 ...
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