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    MYLK3 myosin light chain kinase 3 [ Homo sapiens (human) ]

    Gene ID: 91807, updated on 14-Nov-2024

    Summary

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    Official Symbol
    MYLK3provided by HGNC
    Official Full Name
    myosin light chain kinase 3provided by HGNC
    Primary source
    HGNC:HGNC:29826
    See related
    Ensembl:ENSG00000140795 MIM:612147; AllianceGenome:HGNC:29826
    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
    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]
    Expression
    Biased expression in heart (RPKM 28.3), testis (RPKM 4.8) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYLK3 in Genome Data Viewer
    Location:
    16q11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (46702282..46763246, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (52499182..52560128, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (46736194..46797158, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene VPS35 retromer complex component Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7430 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46722561-46723258 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46723259-46723957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10772 Neighboring gene origin recognition complex subunit 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46760810-46761360 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46769513-46770212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10773 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46781193-46782042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:46790891-46791426 Neighboring gene NANOG hESC enhancer GRCh37_chr16:46802782-46803317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46811535-46812050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46812051-46812566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10774 Neighboring gene NFE2 like bZIP transcription factor 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10776 Neighboring gene chromosome 16 open reading frame 87 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7435

    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

    What's a GeneRIF?
    1. Study identified MYLK3 mutations associated with familial dilated cardiomyopathy. In vitro experiments and immunohistochemistry suggested that the MYLK3 mutations identified in this study result in markedly reduced levels of protein expression and myosin light chain 2 phosphorylation.
      Title: Identification of MYLK3 mutations in familial dilated cardiomyopathy.
    2. This study demonstrates that cyclic stretch disrupts tight junctions and adherens junctions by a JNK2, c-Src, and MLCK-dependent mechanism.
      Title: Cyclic stretch disrupts apical junctional complexes in Caco-2 cell monolayers by a JNK-2-, c-Src-, and MLCK-dependent mechanism.
    3. Biochemical and physiological regulation of cardiac myocyte contraction by cardiac-specific myosin light chain kinase.
      Title: Biochemical and physiological regulation of cardiac myocyte contraction by cardiac-specific myosin light chain kinase.
    4. These findings suggest that hepatitis B virus X protein disrupts stress fiber formation and triggers apoptosis via an MLCK and a PTEN-dependent pathway.
      Title: Hepatitis B virus X protein disrupts stress fiber formation and triggers apoptosis.
    5. 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.
    6. 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

    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)

    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

    Clone Names

    • MGC126319, MGC126320

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium/calmodulin-dependent protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables myosin light chain kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables myosin light chain kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cardiac myofibril assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cardiac myofibril assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to interleukin-1 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of membrane permeability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of sarcomere organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within positive regulation of tight junction disassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sarcomere organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sarcomerogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    myosin light chain kinase 3
    Names
    MLC kinase
    cardiac-MLCK
    cardiac-MyBP-C associated Ca/CaM kinase
    putative myosin light chain kinase 3
    NP_001295230.1
    NP_872299.2

    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_001308301.1 → NP_001295230.1  myosin light chain kinase 3 isoform 2

      See identical proteins and their annotated locations for NP_001295230.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' most exon which results in a different 5' UTR and use of a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC007225, AK299443
      Consensus CDS
      CCDS76861.1
      UniProtKB/Swiss-Prot
      Q32MK0
      Related
      ENSP00000439297.1, ENST00000536476.5
      Conserved Domains (2) summary
      smart00220
      Location:172 → 429
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14192
      Location:169 → 429
      STKc_MLCK3; Catalytic domain of the Serine/Threonine Kinase, Myosin Light Chain Kinase 3

    2. NM_182493.3 → NP_872299.2  myosin light chain kinase 3 isoform 1

      See identical proteins and their annotated locations for NP_872299.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AC007225, AJ247087, AL691746, CR739116, DA561361
      Consensus CDS
      CCDS10723.2
      UniProtKB/Swiss-Prot
      B5BUL9, B7Z5U8, Q32MK0, Q32MK1, Q96DV1
      Related
      ENSP00000378288.4, ENST00000394809.9
      Conserved Domains (2) summary
      smart00220
      Location:513 → 770
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14192
      Location:510 → 770
      STKc_MLCK3; Catalytic domain of the Serine/Threonine Kinase, Myosin Light Chain Kinase 3

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      46702282..46763246 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      52499182..52560128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q32MK0.3 GenPept UniProtKB/Swiss-Prot:Q32MK0

    Gene LinkOut

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

    Chemical Information
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