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MYL12A myosin light chain 12A [ Homo sapiens (human) ]

Gene ID: 10627, updated on 14-Nov-2024

Summary

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Official Symbol
MYL12Aprovided by HGNC
Official Full Name
myosin light chain 12Aprovided by HGNC
Primary source
HGNC:HGNC:16701
See related
Ensembl:ENSG00000101608 AllianceGenome:HGNC:16701
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
MLCB; MRCL3; MRLC3; MYL2B; MLC-2B; HEL-S-24
Summary
This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]
Expression
Broad expression in heart (RPKM 774.2), lung (RPKM 179.0) and 22 other tissues See more
Orthologs
all
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Genomic context

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See MYL12A in Genome Data Viewer
Location:
18p11.31
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (3247482..3256237)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (3406847..3415603)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (3247480..3256235)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA70 Neighboring gene Sharpr-MPRA regulatory region 4192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:3051522-3052022 Neighboring gene Sharpr-MPRA regulatory region 10665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13036 Neighboring gene myomesin 1 Neighboring gene RNA, U7 small nuclear 25 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13038 Neighboring gene Sharpr-MPRA regulatory region 2253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9253 Neighboring gene MYL12A and MYL12B antisense RNA 1 Neighboring gene myosin light chain 12B Neighboring gene Sharpr-MPRA regulatory region 9674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13043 Neighboring gene CRISPRi-validated cis-regulatory element chr18.117 Neighboring gene long intergenic non-protein coding RNA 1895

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. Human nonsarcomeric 20,000 Da myosin regulatory light chain cDNA. Grant JW, et al. Nucleic Acids Res, 1990 Oct 11. PMID 2216787, Free PMC Article
  2. Diphosphorylated MRLC is required for organization of stress fibers in interphase cells and the contractile ring in dividing cells. Iwasaki T, et al. Cell Struct Funct, 2001 Dec. PMID 11942626
  3. AATF/Che-1 acts as a phosphorylation-dependent molecular modulator to repress p53-driven apoptosis. Höpker K, et al. EMBO J, 2012 Oct 17. PMID 22909821, Free PMC Article
  4. Chelerythrine perturbs lamellar actomyosin filaments by selective inhibition of myotonic dystrophy kinase-related Cdc42-binding kinase. Tan I, et al. FEBS Lett, 2011 May 6. PMID 21457715
  5. Subtractive hybridisation screen identifies genes regulated by glucose deprivation in human neuroblastoma cells. Kobayashi K, et al. Brain Res, 2007 Sep 19. PMID 17719568

See all (110) 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)

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 glutamate receptor binding IEA
Inferred from Electronic Annotation
more info
  
enables myosin heavy chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in platelet aggregation HMP PubMed 
involved_in protein localization to plasma membrane IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell shape IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Z disc IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
part_of myosin II complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of myosin II complex IEA
Inferred from Electronic Annotation
more info
  
located_in stress fiber IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
myosin regulatory light chain 12A
Names
epididymis secretory protein Li 24
myosin RLC
myosin regulatory light chain 2, nonsarcomeric
myosin regulatory light chain 3
myosin regulatory light chain MRLC3
myosin, light chain 12A, regulatory, non-sarcomeric
myosin, light polypeptide, regulatory, non-sarcomeric (20kD)

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_001303047.2 → NP_001289976.1  myosin regulatory light chain 12A isoform 1

    See identical proteins and their annotated locations for NP_001289976.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AP005329, BC032748, BM561281
    Consensus CDS
    CCDS11830.1
    UniProtKB/Swiss-Prot
    P19105, Q53X45
    UniProtKB/TrEMBL
    Q53HL1
    Related
    ENSP00000463614.1, ENST00000578611.5
    Conserved Domains (1) summary
    COG5126
    Location:18 → 168
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  2. NM_001303048.1 → NP_001289977.1  myosin regulatory light chain 12A isoform 1

    See identical proteins and their annotated locations for NP_001289977.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AW958488, BC032748, CA309747, CD702288
    Consensus CDS
    CCDS11830.1
    UniProtKB/Swiss-Prot
    P19105, Q53X45
    UniProtKB/TrEMBL
    Q53HL1
    Related
    ENSP00000462171.1, ENST00000579226.5
    Conserved Domains (1) summary
    COG5126
    Location:18 → 168
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  3. NM_001303049.2 → NP_001289978.1  myosin regulatory light chain 12A isoform 2

    See identical proteins and their annotated locations for NP_001289978.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate exon in the 5' UTR and 5' coding region compared to variant 1. These differences result in the use of an alternate start codon compared to variant 1. The encoded isoform (2) has a longer N-terminus compare to isoform 1.
    Source sequence(s)
    AB046614, BC016372
    Consensus CDS
    CCDS77145.1
    UniProtKB/TrEMBL
    J3QRS3, Q53HL1
    Related
    ENSP00000464359.1, ENST00000580887.5
    Conserved Domains (1) summary
    COG5126
    Location:24 → 174
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  4. NM_006471.4 → NP_006462.1  myosin regulatory light chain 12A isoform 1

    See identical proteins and their annotated locations for NP_006462.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the shorter isoform (1). Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    BC031972, BC032748
    Consensus CDS
    CCDS11830.1
    UniProtKB/Swiss-Prot
    P19105, Q53X45
    UniProtKB/TrEMBL
    Q53HL1
    Related
    ENSP00000217652.3, ENST00000217652.8
    Conserved Domains (1) summary
    COG5126
    Location:18 → 168
    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    3247482..3256237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437270.1 → XP_047293226.1  myosin regulatory light chain 12A isoform X1

    UniProtKB/TrEMBL
    J3QRS3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    3406847..3415603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318143.1 → XP_054174118.1  myosin regulatory light chain 12A isoform X1

    UniProtKB/TrEMBL
    J3QRS3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P19105.2 GenPept UniProtKB/Swiss-Prot:P19105

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