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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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    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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