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Aliases for MYLK3 Gene

Aliases for MYLK3 Gene

  • Myosin Light Chain Kinase 3 2 3 5
  • Cardiac-MLCK 3 4
  • MLC Kinase 2 3
  • MLCK 3 4
  • Cardiac-MyBP-C Associated Ca/CaM Kinase 3
  • Cardiac-MyBP-C-Associated Ca/CaM Kinase 4
  • Putative Myosin Light Chain Kinase 3 3
  • EC 2.7.11.18 4
  • EC 2.7.11 58
  • CaMLCK 3
  • MLCK2 3

External Ids for MYLK3 Gene

Previous GeneCards Identifiers for MYLK3 Gene

  • GC16M045293
  • GC16M032625

Summaries for MYLK3 Gene

Entrez Gene Summary for MYLK3 Gene

  • 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]

GeneCards Summary for MYLK3 Gene

MYLK3 (Myosin Light Chain Kinase 3) is a Protein Coding gene. Among its related pathways are Calcium signaling pathway and Focal Adhesion. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MYLK2.

UniProtKB/Swiss-Prot for MYLK3 Gene

  • Kinase that phosphorylates MYL2 in vitro. Promotes sarcomere formation in cardiomyocytes and increases cardiomyocyte contractility (By similarity).

Tocris Summary for MYLK3 Gene

  • Myosin Light Chain Kinases (MLCKs) are a group of protein serine/threonine kinases that are currently divided into two subtypes. MLCK1 is found in smooth muscle and phosphorylates myosin II regulatory light chains at Ser19. MLCK2 is located in the striated muscle.

Gene Wiki entry for MYLK3 Gene

Additional gene information for MYLK3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYLK3 Gene

Genomics for MYLK3 Gene

Regulatory Elements for MYLK3 Gene

Enhancers for MYLK3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H046742 1.7 FANTOM5 Ensembl ENCODE dbSUPER 33.2 +47.2 47158 1 HDAC1 TBP HDGF PKNOX1 ATF1 NFRKB ZSCAN4 ZBTB40 GATA2 EGR1 MYLK3 ENSG00000261131 SHCBP1 GC16M046768 GC16P046705
GH16H046746 1.4 FANTOM5 ENCODE dbSUPER 16.4 +42.1 42055 3 PKNOX1 ATF1 NFIB ARID4B THRB RARA FOS RUNX3 SP5 SMAD5 MYLK3 SHCBP1 ORC6 VPS35 GPT2 GC16M046768 GC16P046705
GH16H046758 0.8 FANTOM5 dbSUPER 24.4 +31.9 31896 0 ZSCAN4 ZMYM3 EZH2 MYLK3 GC16M046768 GC16P046705
GH16H046864 1.5 Ensembl ENCODE dbSUPER 10.2 -74.1 -74137 1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 FOS SP5 ZHX2 MIER2 SHCBP1 MYLK3 ENSG00000261725 GPT2
GH16H046649 1.3 FANTOM5 Ensembl ENCODE 10.5 +140.3 140277 1 ATF1 E2F1 MTA3 ZNF316 FOS ATF7 CREM L3MBTL2 BHLHE40 NRF1 MYLK3 ENSG00000260909 PIR53331
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYLK3 on UCSC Golden Path with GeneCards custom track

Promoters for MYLK3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085478 307 1001 HDGF ZFP64 ARID4B DMAP1 ZNF2 BRCA1 SLC30A9 GLIS2 ZNF143 SP3

Genomic Location for MYLK3 Gene

Chromosome:
16
Start:
46,702,282 bp from pter
End:
46,790,407 bp from pter
Size:
88,126 bases
Orientation:
Minus strand

Genomic View for MYLK3 Gene

Genes around MYLK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYLK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYLK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYLK3 Gene

Proteins for MYLK3 Gene

  • Protein details for MYLK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q32MK0-MYLK3_HUMAN
    Recommended name:
    Myosin light chain kinase 3
    Protein Accession:
    Q32MK0
    Secondary Accessions:
    • B5BUL9
    • B7Z5U8
    • Q32MK1
    • Q96DV1

    Protein attributes for MYLK3 Gene

    Size:
    819 amino acids
    Molecular mass:
    88393 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI09098.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC42766.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MYLK3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYLK3 Gene

Selected DME Specific Peptides for MYLK3 Gene

Q32MK0:
  • NLIQLYDAFESK
  • GGELFDR
  • EKLKVNFGTPEFL
  • IIDFGLA
  • LHLDLKP
  • DMWSVGVI

Post-translational modifications for MYLK3 Gene

Other Protein References for MYLK3 Gene

Domains & Families for MYLK3 Gene

Gene Families for MYLK3 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q32MK0

UniProtKB/Swiss-Prot:

MYLK3_HUMAN :
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
genes like me logo Genes that share domains with MYLK3: view

Function for MYLK3 Gene

Molecular function for MYLK3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [myosin light-chain] = ADP + [myosin light-chain] phosphate.
UniProtKB/Swiss-Prot Function:
Kinase that phosphorylates MYL2 in vitro. Promotes sarcomere formation in cardiomyocytes and increases cardiomyocyte contractility (By similarity).

Enzyme Numbers (IUBMB) for MYLK3 Gene

Gene Ontology (GO) - Molecular Function for MYLK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004683 calmodulin-dependent protein kinase activity ISS --
GO:0004687 myosin light chain kinase activity ISS,IBA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYLK3: view
genes like me logo Genes that share phenotypes with MYLK3: view

Animal Models for MYLK3 Gene

MGI Knock Outs for MYLK3:

Animal Model Products

  • Taconic Biosciences Mouse Models for MYLK3

CRISPR Products

miRNA for MYLK3 Gene

miRTarBase miRNAs that target MYLK3

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MYLK3
  • Applied Biological Materials Clones for MYLK3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYLK3 Gene

Localization for MYLK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYLK3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYLK3 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYLK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005737 cytoplasm IEA,ISS --
GO:0005829 cytosol ISS --
GO:0015629 actin cytoskeleton IEA --
genes like me logo Genes that share ontologies with MYLK3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYLK3 Gene

Pathways & Interactions for MYLK3 Gene

genes like me logo Genes that share pathways with MYLK3: view

Gene Ontology (GO) - Biological Process for MYLK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002528 regulation of vascular permeability involved in acute inflammatory response IMP 18390750
GO:0006468 protein phosphorylation ISS --
GO:0016310 phosphorylation IEA --
GO:0018105 peptidyl-serine phosphorylation IBA --
GO:0018107 peptidyl-threonine phosphorylation IBA --
genes like me logo Genes that share ontologies with MYLK3: view

No data available for SIGNOR curated interactions for MYLK3 Gene

Drugs & Compounds for MYLK3 Gene

(9) Drugs for MYLK3 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Omecamtiv mecarbil Investigational Pharma Cardiac myosin activator 0
ML-7 hydrochloride Pharma Myosin light chain kinase inhibitor, Selective inhibitor of myosin light chain kinase 0
calcium Nutra 0
ATP Nutra Agonist 0
Magnesium Nutra 0

(6) Additional Compounds for MYLK3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(3) Tocris Compounds for MYLK3 Gene

Compound Action Cas Number
ML 7 hydrochloride Selective inhibitor of myosin light chain kinase 110448-33-4
ML 9 hydrochloride Myosin light chain kinase inhibitor 105637-50-1
MLCK inhibitor peptide 18 Selective inhibitor of myosin light chain kinase 224579-74-2

(2) ApexBio Compounds for MYLK3 Gene

Compound Action Cas Number
ML-7 hydrochloride Myosin light chain kinase inhibitor 110448-33-4
Omecamtiv mecarbil Cardiac myosin activator 873697-71-3
genes like me logo Genes that share compounds with MYLK3: view

Drug Products

Transcripts for MYLK3 Gene

mRNA/cDNA for MYLK3 Gene

(3) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYLK3 Gene

Myosin light chain kinase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MYLK3
  • Applied Biological Materials Clones for MYLK3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MYLK3 Gene

No ASD Table

Relevant External Links for MYLK3 Gene

GeneLoc Exon Structure for
MYLK3
ECgene alternative splicing isoforms for
MYLK3

Expression for MYLK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYLK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYLK3 Gene

This gene is overexpressed in Heart - Left Ventricle (x23.0) and Heart - Atrial Appendage (x19.7).

Protein differential expression in normal tissues from HIPED for MYLK3 Gene

This gene is overexpressed in Testis (22.8), Heart (15.9), Fetal heart (12.0), Liver, secretome (9.9), and Tonsil (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYLK3 Gene



Protein tissue co-expression partners for MYLK3 Gene

NURSA nuclear receptor signaling pathways regulating expression of MYLK3 Gene:

MYLK3

SOURCE GeneReport for Unigene cluster for MYLK3 Gene:

Hs.130465

mRNA Expression by UniProt/SwissProt for MYLK3 Gene:

Q32MK0-MYLK3_HUMAN
Tissue specificity: Restricted to heart.

Evidence on tissue expression from TISSUES for MYLK3 Gene

  • Muscle(3.1)
  • Heart(2.9)
genes like me logo Genes that share expression patterns with MYLK3: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MYLK3 Gene

Orthologs for MYLK3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYLK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYLK3 33 34
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia MYLK3 33 34
  • 82.1 (n)
mouse
(Mus musculus)
Mammalia Mylk3 33 16 34
  • 78.02 (n)
rat
(Rattus norvegicus)
Mammalia Mylk3 33
  • 77.94 (n)
dog
(Canis familiaris)
Mammalia MYLK3 33 34
  • 77.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYLK3 34
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYLK3 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYLK3 33 34
  • 57.68 (n)
lizard
(Anolis carolinensis)
Reptilia MYLK3 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mylk3 33
  • 63.8 (n)
zebrafish
(Danio rerio)
Actinopterygii mylk3 34
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sqa 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZC373.4 34
  • 13 (a)
OneToMany
Species where no ortholog for MYLK3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYLK3 Gene

ENSEMBL:
Gene Tree for MYLK3 (if available)
TreeFam:
Gene Tree for MYLK3 (if available)

Paralogs for MYLK3 Gene

Paralogs for MYLK3 Gene

genes like me logo Genes that share paralogs with MYLK3: view

Variants for MYLK3 Gene

Sequence variations from dbSNP and Humsavar for MYLK3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs141602742 A colorectal cancer sample 46,732,502(+) TTCTC(C/T)GGGCT reference, missense
rs1000020905 -- 46,754,710(+) TACTA(A/C)ACATA intron-variant
rs1000041279 -- 46,720,036(+) AGCCA(C/G/T)GTGTG intron-variant
rs1000071844 -- 46,702,168(+) ATATA(C/T)CTATA downstream-variant-500B
rs1000072529 -- 46,720,449(+) CCCTC(C/T)TTGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYLK3 Gene

Variant ID Type Subtype PubMed ID
dgv2975n100 CNV gain 25217958
esv3571142 CNV gain 25503493
esv3638534 CNV gain 21293372
esv3638540 CNV gain 21293372
esv3638541 CNV gain 21293372
esv3892855 CNV loss 25118596
nsv1066115 CNV gain 25217958
nsv526656 CNV gain 19592680

Variation tolerance for MYLK3 Gene

Residual Variation Intolerance Score: 19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.59; 82.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYLK3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYLK3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYLK3 Gene

Disorders for MYLK3 Gene

Relevant External Links for MYLK3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYLK3

No disorders were found for MYLK3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MYLK3 Gene

Publications for MYLK3 Gene

  1. A cardiac myosin light chain kinase regulates sarcomere assembly in the vertebrate heart. (PMID: 17885681) Seguchi O … Kitakaze M (The Journal of clinical investigation 2007) 2 3 4 60
  2. Mechanism of IL-1beta-induced increase in intestinal epithelial tight junction permeability. (PMID: 18390750) Al-Sadi R … Ma TY (Journal of immunology (Baltimore, Md. : 1950) 2008) 3 22 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for MYLK3 Gene

  • Addgene plasmids for MYLK3

Sources for MYLK3 Gene

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