MYL1 myosin light chain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYL1provided by HGNC
Official Full Name: myosin light chain 1provided by HGNC
Primary source: HGNC:HGNC:7582
See related: Ensembl:ENSG00000168530 MIM:160780; AllianceGenome:HGNC:7582
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: MLC1; MLC-1; MLC1F; MLC3F; CMYP14; MLC1/3; MYOFTA
Summary: Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward prostate (RPKM 145.3) See more
Orthologs: mouse all
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Genomic context

Location:: 2q34

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (210290150..210315174, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (210770853..210795901, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (211154874..211179898, complement)

Chromosome 2 - NC_000002.12 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
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?

Analysis of myosin genes in HNSCC and identify MYL1 as a specific poor prognostic biomarker, promotes tumor metastasis and correlates with tumor immune infiltration in HNSCC.
Title: Analysis of myosin genes in HNSCC and identify MYL1 as a specific poor prognostic biomarker, promotes tumor metastasis and correlates with tumor immune infiltration in HNSCC.
MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.
Title: MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.
MYL2 as a potential predictive biomarker for rhabdomyosarcoma.
Title: MYL2 as a potential predictive biomarker for rhabdomyosarcoma.
Our data implicate MYL1 as a crucial protein for adequate skeletal muscle function and that MYL1 deficiency is associated with severe congenital myopathy.
Title: Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
MLCK and phosphorylated MLC are potential prognostic indicators of leiomyosarcoma.
Title: Myosin regulatory light chain phosphorylation is associated with leiomyosarcoma development.
these results provide new insights into the sequences and modifications of myosin light chain isoforms in the human and swine hearts, which will pave the way for a better understanding of their functional roles in cardiac physiology and pathophysiology.
Title: Distinct sequences and post-translational modifications in cardiac atrial and ventricular myosin light chains revealed by top-down mass spectrometry.
These results support the concept of the ATP-induced transient interaction of the essential light chain-1 N-terminus with the motor domain of the myosin head.
Title: Transient interaction between the N-terminal extension of the essential light chain-1 and motor domain of the myosin head during the ATPase cycle.
polymorphism of intron MYL1 was associated with endurance performance, specifically in endurance trainability, but not genetic predisposition, in human adults.
Title: Intron polymorphism in MYL1 gene is associated with individual cardiac trainability to endurance training in human myocardium.
This study provides an additional mechanistic link between Angiotensin II and vasoconstriction via SFK-enhanced MLC phosphorylation in smooth muscle cells.
Title: Src Family Kinases (SFK) Mediate Angiotensin II-Induced Myosin Light Chain Phosphorylation and Hypertension.
MRK is a novel RhoC effector that controls LPA-stimulated cell invasion at least in part by regulating myosin dynamics, ERK and p38
Title: The MLK-related kinase (MRK) is a novel RhoC effector that mediates lysophosphatidic acid (LPA)-stimulated tumor cell invasion.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Congenital myopathy with reduced type 2 muscle fibers MedGen: C5193081 OMIM: 618414 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

D12S2139 (e-PCR)
- UniSTS:56871

D2S1569E (e-PCR)
- UniSTS:150653

D2S1582E (e-PCR)
- UniSTS:150666

D2S2588 (e-PCR)
- UniSTS:44507

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of muscle	IMP Inferred from Mutant Phenotype more info	PubMed
enables structural constituent of muscle	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in muscle filament sliding	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in contractile muscle fiber	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
part_of muscle myosin complex	NAS Non-traceable Author Statement more info	PubMed
located_in myofibril	IDA Inferred from Direct Assay more info	PubMed
part_of myosin II complex	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcomere	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: myosin light chain 1/3, skeletal muscle isoform

Names: A1 catalytic; A2 catalytic; MLC1/MLC3; MLC1F/MLC3F; myosin light chain A1/A2; myosin light chain alkali 1/2; myosin, light chain 1, alkali; skeletal, fast; myosin, light polypeptide 1, alkali; skeletal, fast

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.

mRNA and Protein(s)

NM_079420.3 → NP_524144.1 myosin light chain 1/3, skeletal muscle isoform isoform 1f

See identical proteins and their annotated locations for NP_524144.1

Status: REVIEWED

Description

Transcript Variant: This variant (1f) encodes a protein that is 44 aa longer than isoform 3f. Transcript variants 1f and 3f differ in their first two exons.

Source sequence(s)

AA705167, AC021150, CR456869, DA898482

Consensus CDS

CCDS2390.1

UniProtKB/Swiss-Prot

B2R4N6, B2R4T6, P05976, P06741, Q6IBD5

Related

ENSP00000307280.4, ENST00000352451.4

Conserved Domains (4) summary

PTZ00184
Location:45 → 193

PTZ00184; calmodulin; Provisional

cd00051
Location:131 → 192

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 ...

pfam13405
Location:54 → 83

EF-hand_6; EF-hand domain

cl08302
Location:54 → 118

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_079422.3 → NP_524146.1 myosin light chain 1/3, skeletal muscle isoform isoform 3f

See identical proteins and their annotated locations for NP_524146.1

Status: REVIEWED

Description

Transcript Variant: This variant (3f) encodes a protein that is 44 aa shorter than isoform 1f. Transcript variants 3f and 1f differ in their first two exons.

Source sequence(s)

AA705167, BC005318

Consensus CDS

CCDS2391.1

UniProtKB/TrEMBL

Q53R15

Related

ENSP00000343321.4, ENST00000341685.8

Conserved Domains (1) summary

PTZ00184
Location:4 → 149

PTZ00184; calmodulin; Provisional