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    MYL5 myosin light chain 5 [ Homo sapiens (human) ]

    Gene ID: 4636, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MYL5provided by HGNC
    Official Full Name
    myosin light chain 5provided by HGNC
    Primary source
    HGNC:HGNC:7586
    See related
    Ensembl:ENSG00000215375 MIM:160782; AllianceGenome:HGNC:7586
    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
    MYLC2
    Summary
    This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 6.7), duodenum (RPKM 6.7) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See MYL5 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (674542..682028)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (674216..681662)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (668331..675817)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 6B Neighboring gene PDE6B antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:657162-657754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:668197-668954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:674515-675154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21131 Neighboring gene ATP synthase membrane subunit e Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21132 Neighboring gene solute carrier family 49 member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:680358-681306 Neighboring gene uncharacterized LOC124900643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:682255-683203 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:683204-684151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:686336-686923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:686924-687510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:688618-689118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:694583-695083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:697641-698368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:699409-700394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:700395-701379 Neighboring gene uncharacterized LOC124900172 Neighboring gene polycomb group ring finger 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:720375-720890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:720891-721405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:725234-725734

    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. MYL5 as a Novel Prognostic Marker is Associated with Immune Infiltrating in Breast Cancer: A Preliminary Study. Lv M. Breast J, 2023. PMID 36846347, Free PMC Article
    2. The genomic organization of a novel regulatory myosin light chain gene (MYL5) that maps to chromosome 4p16.3 and shows different patterns of expression between primates. Collins C, et al. Hum Mol Genet, 1992 Dec. PMID 1284596
    3. Myosins: a diverse superfamily. Sellers JR. Biochim Biophys Acta, 2000 Mar 17. PMID 10722873
    4. Intact lipid rafts regulate HIV-1 Tat protein-induced activation of the Rho signaling and upregulation of P-glycoprotein in brain endothelial cells. Zhong Y, et al. J Cereb Blood Flow Metab, 2010 Mar. PMID 19794400, Free PMC Article
    5. Expanding the substantial interactome of NEMO using protein microarrays. Fenner BJ, et al. PLoS One, 2010 Jan 20. PMID 20098747, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MYL5 as a Novel Prognostic Marker is Associated with Immune Infiltrating in Breast Cancer: A Preliminary Study.
      Title: MYL5 as a Novel Prognostic Marker is Associated with Immune Infiltrating in Breast Cancer: A Preliminary Study.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
    Submit: New GeneRIF Correction

    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)

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of muscle myosin complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    myosin light chain 5
    Names
    myosin regulatory light chain 5
    myosin, light chain 5, regulatory
    myosin, light polypeptide 5, regulatory
    superfast myosin regulatory light chain 2

    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_001363650.2 → NP_001350579.1  myosin light chain 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS87196.1
      Conserved Domains (1) summary
      COG5126
      Location:1 → 118
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    2. NM_001395441.1 → NP_001382370.1  myosin light chain 5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS43197.1
      UniProtKB/Swiss-Prot
      Q02045, Q8IXL8
      Conserved Domains (1) summary
      COG5126
      Location:15 → 159
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    3. NM_001395442.1 → NP_001382371.1  myosin light chain 5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS43197.1
      UniProtKB/Swiss-Prot
      Q02045, Q8IXL8
      Conserved Domains (1) summary
      COG5126
      Location:15 → 159
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    4. NM_001395443.1 → NP_001382372.1  myosin light chain 5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS43197.1
      UniProtKB/Swiss-Prot
      Q02045, Q8IXL8
      Conserved Domains (1) summary
      COG5126
      Location:15 → 159
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    5. NM_001395444.1 → NP_001382373.1  myosin light chain 5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS87196.1
      Conserved Domains (1) summary
      COG5126
      Location:1 → 118
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    6. NM_001395445.1 → NP_001382374.1  myosin light chain 5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS87196.1
      Related
      ENSP00000427153.1, ENST00000506838.5
      Conserved Domains (1) summary
      COG5126
      Location:1 → 118
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    7. NM_001395446.1 → NP_001382375.1  myosin light chain 5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS87196.1
      Conserved Domains (1) summary
      COG5126
      Location:1 → 118
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    8. NM_001395447.1 → NP_001382376.1  myosin light chain 5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS87196.1
      Conserved Domains (1) summary
      COG5126
      Location:1 → 118
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    9. NM_001395448.1 → NP_001382377.1  myosin light chain 5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS87196.1
      Conserved Domains (1) summary
      COG5126
      Location:1 → 118
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    10. NM_001395449.1 → NP_001382378.1  myosin light chain 5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS87196.1
      Related
      ENSP00000425162.1, ENST00000511290.5
      Conserved Domains (1) summary
      COG5126
      Location:1 → 118
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    11. NM_002477.2 → NP_002468.1  myosin light chain 5 isoform 1

      See identical proteins and their annotated locations for NP_002468.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS43197.1
      UniProtKB/Swiss-Prot
      Q02045, Q8IXL8
      Related
      ENSP00000383023.2, ENST00000400159.7
      Conserved Domains (1) summary
      COG5126
      Location:15 → 159
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      674542..682028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415724.1 → XP_047271680.1  myosin light chain 5 isoform X1

    2. XM_047415729.1 → XP_047271685.1  myosin light chain 5 isoform X2

      UniProtKB/Swiss-Prot
      Q02045, Q8IXL8

    3. XM_047415725.1 → XP_047271681.1  myosin light chain 5 isoform X1

    4. XM_047415726.1 → XP_047271682.1  myosin light chain 5 isoform X1

    5. XM_047415730.1 → XP_047271686.1  myosin light chain 5 isoform X2

      UniProtKB/Swiss-Prot
      Q02045, Q8IXL8

    6. XM_047415728.1 → XP_047271684.1  myosin light chain 5 isoform X1

    7. XM_047415727.1 → XP_047271683.1  myosin light chain 5 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      674216..681662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350096.1 → XP_054206071.1  myosin light chain 5 isoform X1

    2. XM_054350097.1 → XP_054206072.1  myosin light chain 5 isoform X1

    3. XM_054350100.1 → XP_054206075.1  myosin light chain 5 isoform X2

      UniProtKB/Swiss-Prot
      Q02045, Q8IXL8

    4. XM_054350098.1 → XP_054206073.1  myosin light chain 5 isoform X1

    5. XM_054350099.1 → XP_054206074.1  myosin light chain 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02045.1 GenPept UniProtKB/Swiss-Prot:Q02045

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