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

Gene ID: 4636, updated on 2-Nov-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 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)

Genotypes

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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