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

Gene ID: 4632, updated on 5-Aug-2018

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; Vega:OTTHUMG00000132992
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
MLC1F; MLC3F
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

Genomic context

See MYL1 in Genome Data Viewer
Location:
2q34
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (210290144..210315171, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (211154868..211179895, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene KAT8 regulatory NSL complex subunit 1 like Neighboring gene uncharacterized LOC107985977 Neighboring gene acyl-CoA dehydrogenase long chain Neighboring gene LANCL1 antisense RNA 1 Neighboring gene LanC like 1 Neighboring gene CPS1 intron CAGE-defined high expression enhancer 1 Neighboring gene carbamoyl-phosphate synthase 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

  • Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystem (from WikiPathways)
    Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystemThis pathway is based on Figure 8 of "Mapping drug physico-chemical features to pathway activity reveals molecular networks linked to toxicity outcome."(See bibliography). These 3 pathways demonstr...
  • Endothelin Pathways, organism-specific biosystem (from WikiPathways)
    Endothelin Pathways, organism-specific biosystemEndothelin-1 is a bicyclic 21 amino acid peptide, produced primarily in the endothelium. It is a potent stimulus of long-lasting and persistent vasoconstriction. It also has a role as a stimulus of i...
  • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
  • 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 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
structural constituent of muscle NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle contraction IEA
Inferred from Electronic Annotation
more info
 
muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
muscle filament sliding NAS
Non-traceable Author Statement
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
muscle myosin complex NAS
Non-traceable Author Statement
more info
PubMed 
myofibril IDA
Inferred from Direct Assay
more info
PubMed 
sarcomere NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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)

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)

  1. NM_079420.2NP_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, CR456869, DA898482
    Consensus CDS
    CCDS2390.1
    UniProtKB/Swiss-Prot
    P05976
    Related
    ENSP00000307280.4, OTTHUMP00000163941, ENST00000352451.3, OTTHUMT00000256566
    Conserved Domains (4) summary
    PTZ00184
    Location:45193
    PTZ00184; calmodulin; Provisional
    cd00051
    Location:131192
    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:5483
    EF-hand_6; EF-hand domain
    cl08302
    Location:54118
    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 ...
  2. NM_079422.2NP_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/Swiss-Prot
    P05976
    Related
    ENSP00000343321.4, OTTHUMP00000163942, ENST00000341685.8, OTTHUMT00000256567
    Conserved Domains (1) summary
    cl25352
    Location:4149
    EFh_PEF; The penta-EF hand (PEF) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    210290144..210315171 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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