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

    Gene ID: 4632, updated on 18-Jul-2024

    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; CMYO14; 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
    NEW
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    Genomic context

    See MYL1 in Genome Data Viewer
    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_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907972 Neighboring gene acyl-CoA dehydrogenase long chain Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:211111447-211112014 Neighboring gene LANCL1 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:211225248-211226447 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:211229754-211230953 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:211294046-211295245 Neighboring gene NANOG hESC enhancer GRCh37_chr2:211307490-211308075 Neighboring gene LanC like glutathione S-transferase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:211346110-211346611 Neighboring gene carbamoyl-phosphate synthase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:211405459-211406038 Neighboring gene CPS1 intron CAGE-defined high expression enhancer 1 Neighboring gene CPS1 intron CAGE-defined high expression enhancer 2 Neighboring gene CPS1 intronic transcript 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_079420.3NP_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: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_079422.3NP_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:4149
      PTZ00184; calmodulin; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      210290150..210315174 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      210770853..210795901 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)