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    MYL6 myosin light chain 6 [ Homo sapiens (human) ]

    Gene ID: 4637, updated on 7-Apr-2024

    Summary

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    Official Symbol
    MYL6provided by HGNC
    Official Full Name
    myosin light chain 6provided by HGNC
    Primary source
    HGNC:HGNC:7587
    See related
    Ensembl:ENSG00000092841 MIM:609931; AllianceGenome:HGNC:7587
    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
    LC17; ESMLC; LC17A; LC17B; MLC-3; MLC1SM; MLC3NM; MLC3SM; LC17-GI; LC17-NM
    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 that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 771.0), endometrium (RPKM 608.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56158359..56161579)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56125971..56129191)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56552143..56555363)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56521723-56522384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6475 Neighboring gene extended synaptotagmin 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:56536437-56537636 Neighboring gene uncharacterized LOC124902943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6476 Neighboring gene uncharacterized LOC124902942 Neighboring gene MYL6B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4547 Neighboring gene myosin light chain 6B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56554412-56555034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56555035-56555655 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6480 Neighboring gene tRNA-Ser (anticodon CGA) 4-1

    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
    • 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. Molecular cloning and sequencing of myosin light chains in human megakaryoblastic leukemia cells. Watanabe M, et al. J Smooth Muscle Res, 2001 Feb. PMID 11436981
    2. The alkali light chains of human smooth and nonmuscle myosins are encoded by a single gene. Tissue-specific expression by alternative splicing pathways. Lenz S, et al. J Biol Chem, 1989 May 25. PMID 2722814
    3. The intracompartmental sorting of myosin alkali light chain isoproteins reflects the sequence of developmental expression as determined by double epitope-tagging competition. Komiyama M, et al. J Cell Sci, 1996 Aug. PMID 8856505
    4. Molecular cloning, sequencing, and characterization of smooth muscle myosin alkali light chain from human eye cDNA: homology with myocardial fatty acid ethyl ester synthase-III cDNA. Bora PS, et al. Genomics, 1994 Jan 1. PMID 8188229
    5. Preparation of monoclonal antibodies against human ventricular myosin light chain 1 (HVMLC1) for functional studies. Fu ZY, et al. Acta Biochim Biophys Sin (Shanghai), 2006 Sep. PMID 16953301

    See all (171) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of myosin, light chain 6, alkali, smooth muscle and non-muscle (MYL6) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Interaction of HIV-1 Gag with myosin, light chain 6, alkali, smooth muscle and non-muscle (MYL6) is identified in a series of six affinity purification/mass spectrometry screens PubMed
    Tat tat Expression of HIV-1 Tat upregulates the abundance of myosin, light chain 6, alkali, smooth muscle and non-muscle (MYL6) in the nucleoli of Jurkat T-cells PubMed
    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
    Vpr vpr HIV-1 Vpr upregulates MYL6 in HeLa cells within 12 hours of exposure 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 cytoskeletal motor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables microfilament motor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of muscle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of muscle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in muscle filament sliding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in skeletal muscle tissue development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in brush border IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of myosin complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of unconventional myosin complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in vesicle HDA PubMed 

    General protein information

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    Preferred Names
    myosin light polypeptide 6
    Names
    17 kDa myosin light chain
    myosin light chain A3
    myosin light chain alkali 3
    myosin, light chain 6, alkali, smooth muscle and non-muscle
    myosin, light polypeptide 6, alkali, smooth muscle and non-muscle

    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

    1. NG_029223.1 RefSeqGene

      Range
      5099..8319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021019.5 → NP_066299.2  myosin light polypeptide 6 isoform 1

      See identical proteins and their annotated locations for NP_066299.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), which is the major non-muscle transcript, represents the longer transcript and encodes isoform 1.
      Source sequence(s)
      BC017455, BG283793, CA427580
      Consensus CDS
      CCDS8906.1
      UniProtKB/Swiss-Prot
      P16475, P24572, P24573, P60660, Q12790, Q561V9, Q6IAZ0, Q6IPY5
      UniProtKB/TrEMBL
      J3KND3
      Related
      ENSP00000446955.2, ENST00000550697.6
      Conserved Domains (1) summary
      PTZ00184
      Location:5 → 150
      PTZ00184; calmodulin; Provisional

    2. NM_079423.4 → NP_524147.2  myosin light polypeptide 6 isoform 2

      See identical proteins and their annotated locations for NP_524147.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) is the same length as isoform 1, but the proteins differ in their C-terminal sequences.
      Source sequence(s)
      BC093066, BG283793, CA427580
      Consensus CDS
      CCDS31834.1
      UniProtKB/TrEMBL
      G8JLA2
      Related
      ENSP00000446714.1, ENST00000547649.5
      Conserved Domains (1) summary
      PTZ00184
      Location:5 → 149
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56158359..56161579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56125971..56129191
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_079425.1: Suppressed sequence

      Description
      NM_079425.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein is not supported by current protein homology data.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60660.2 GenPept UniProtKB/Swiss-Prot:P60660

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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