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

    Gene ID: 4632, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See MYL1 in Genome Data Viewer
    Location:
    2q34
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (210290150..210315174, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (210770853..210795901, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting. Lossie J, et al. Cardiovasc Res, 2012 Mar 1. PMID 22131351
    2. 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. Li C, et al. BMC Cancer, 2023 Sep 7. PMID 37679666, Free PMC Article
    3. The complete nucleotide sequences of cDNA clones coding for human myosin light chains 1 and 3. Seidel U, et al. Nucleic Acids Res, 1987 Jun 25. PMID 3601661, Free PMC Article
    4. Intron polymorphism in MYL1 gene is associated with individual cardiac trainability to endurance training in human myocardium. Lin X, et al. J Sports Med Phys Fitness, 2017 Jan-Feb. PMID 26473445
    5. Distinct sequences and post-translational modifications in cardiac atrial and ventricular myosin light chains revealed by top-down mass spectrometry. Gregorich ZR, et al. J Mol Cell Cardiol, 2017 Jun. PMID 28427997, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.
      Title: MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.
    3. MYL2 as a potential predictive biomarker for rhabdomyosarcoma.
      Title: MYL2 as a potential predictive biomarker for rhabdomyosarcoma.
    4. 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.
    5. MLCK and phosphorylated MLC are potential prognostic indicators of leiomyosarcoma.
      Title: Myosin regulatory light chain phosphorylation is associated with leiomyosarcoma development.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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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

    Homology

    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)

    1. 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 ...

    2. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P05976.3 GenPept UniProtKB/Swiss-Prot:P05976

    Gene LinkOut

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