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

Gene ID: 91807, updated on 2-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
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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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Related articles in PubMed

  1. Identification of MYLK3 mutations in familial dilated cardiomyopathy. Tobita T, et al. Sci Rep, 2017 Dec 13. PMID 29235529, Free PMC Article
  2. Biochemical and physiological regulation of cardiac myocyte contraction by cardiac-specific myosin light chain kinase. Tsukamoto O, et al. Circ J, 2013. PMID 23863751
  3. Cyclic stretch disrupts apical junctional complexes in Caco-2 cell monolayers by a JNK-2-, c-Src-, and MLCK-dependent mechanism. Samak G, et al. Am J Physiol Gastrointest Liver Physiol, 2014 Jun 1. PMID 24722904, Free PMC Article
  4. Hepatitis B virus X protein disrupts stress fiber formation and triggers apoptosis. Kuo CY, et al. Virus Res, 2013 Jul. PMID 23591626
  5. Mechanism of IL-1beta-induced increase in intestinal epithelial tight junction permeability. Al-Sadi R, et al. J Immunol, 2008 Apr 15. PMID 18390750, Free PMC Article

See all (18) citations in PubMed

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)

Genotypes

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 sarcomere organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of vascular permeability involved in acute inflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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

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