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    MYLK3 myosin light chain kinase 3 [ Homo sapiens ]

    Gene ID: 91807, updated on 11-May-2012
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    Summary

    Official Symbol
    MYLK3provided by HGNC
    Official Full Name
    myosin light chain kinase 3provided by HGNC
    Primary source
    HGNC:29826
    See related
    Ensembl:ENSG00000140795; HPRD:11281; MIM:612147; Vega:OTTHUMG00000132543
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MLCK; MLCK2; caMLCK; MGC126319; MGC126320
    Summary
    Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]
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    Genomic context

    Location :
    16q11.2
    Sequence :
    Chromosome: 16; NC_000016.9 (46736194..46782221, complement)
    See MYLK3 in Epigenomics, MapViewer

    Chromosome 16 - NC_000016.9Genomic Context describing neighboring genes Neighboring gene vacuolar protein sorting 35 homolog (S. cerevisiae) Neighboring gene origin recognition complex, subunit 6 Neighboring gene nuclear factor (erythroid-derived 2)-like 3 pseudogene Neighboring gene chromosome 16 open reading frame 87

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Mechanism of IL-1beta-induced increase in intestinal epithelial tight junction permeability. Al-Sadi R, et al. J Immunol, 2008 Apr 15. PMID 18390750.
    2. Identification of cardiac-specific myosin light chain kinase. Chan JY, et al. Circ Res, 2008 Mar 14. PMID 18202317.
    3. A cardiac myosin light chain kinase regulates sarcomere assembly in the vertebrate heart. Seguchi O, et al. J Clin Invest, 2007 Oct. PMID 17885681.
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.

    See all (6) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. data indicate that the IL-1beta-induced increase in MLCK protein expression and Caco-2 TJ permeability was mediated by an increase in MLCK expression and activity and by an NF-kappaB-dependent increase in MLCK gene transcription
      Title: Mechanism of IL-1beta-induced increase in intestinal epithelial tight junction permeability.
    2. Integrated cDNA expression analysis of failing human myocardia uncovered a novel protein kinase, cardiac-specific myosin light chain kinase (cardiac-MLCK), which acts on MLC2v.
      Title: A cardiac myosin light chain kinase regulates sarcomere assembly in the vertebrate heart.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Gastric acid secretion, organism-specific biosystem (from KEGG)
      Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Gastric acid secretion, conserved biosystem (from KEGG)
      Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystem (from WikiPathways)
      MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystemThis pathway shows the role of microRNAs in the process of cardiac hypertrophy. MicroRNA targets were predicted by the TargetScan algorithm, and the predicted interactions are shown in red dashed lin...
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
      Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    calmodulin-dependent protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    myosin light chain kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cardiac myofibril assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cellular response to interleukin-1 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of sarcomere organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of vascular permeability involved in acute inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    sarcomere organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    sarcomerogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
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    General protein information

    Preferred Names
    putative myosin light chain kinase 3
    Names
    putative myosin light chain kinase 3
    MLC kinase
    cardiac-MyBP-C associated Ca/CaM kinase
    cardiac-MyBP-C-associated Ca/CaM kinase
    NP_872299.2
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    NCBI Reference Sequences (RefSeq)

    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_182493.2 → NP_872299.2  putative myosin light chain kinase 3

      Status: VALIDATED

      Source sequence(s)
      AC007225, AJ247087, AL691746, CR739116, DA561361
      Consensus CDS
      CCDS10723.2
      UniProtKB/Swiss-Prot
      Q32MK0
      Related
      ENSP00000378288, OTTHUMP00000163365, ENST00000394809, OTTHUMT00000255743
      Conserved Domains (2) summary
      cd00180
      Location:521 – 767
      Blast Score: 550
      PKc; Catalytic domain of Protein Kinases
      smart00220
      Location:513 – 770
      Blast Score: 772
      S_TKc; Serine/Threonine protein kinases, catalytic domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000016.9 Reference GRCh37.p5 Primary Assembly

      Range
      46736194..46782221, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000148.1 Alternate HuRef

      Range
      32625650..32671687, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC007225.2 (137202..177971) None
    genomic CH471092.1 EAW82687.1
    mRNA AB451455.1 BAG70269.1
    mRNA AJ247087.1 CAC42766.1
    mRNA AK299443.1 BAH13034.1
    mRNA AL691746.1 None
    mRNA BC039103.1 None
    mRNA BC109096.1 None
    mRNA BC109097.1 AAI09098.2
    mRNA CR739116.1 None
    mRNA DA561361.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q32MK0.3 GenPept UniProtKB/Swiss-Prot:Q32MK0
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    Additional Links

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
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