Homo sapiens Protein: MYLK2
Summary
InnateDB Protein IDBP-64013.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MYLK2
Protein Name myosin light chain kinase 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000365162
InnateDB Gene IDBG-64011 (MYLK2)
Protein Structure
UniProt Annotation
Function Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N- terminus of a myosin light chain. {ECO:0000269PubMed:11733062}.
Subcellular Localization Cytoplasm. Note=Colocalizes with phosphorylated myosin light chain (RLCP) at filaments of the myofibrils.
Disease Associations Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269PubMed:11733062}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Heart and skeletal muscles. Increased expression in the apical tissue compared to the interventricular septal tissue.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated
Total 21 [view]
Protein-Protein 21 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004683 calmodulin-dependent protein kinase activity
GO:0004687 myosin light chain kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
Biological Process
GO:0006468 protein phosphorylation
GO:0006941 striated muscle contraction
GO:0007274 neuromuscular synaptic transmission
GO:0010628 positive regulation of gene expression
GO:0014816 satellite cell differentiation
GO:0018107 peptidyl-threonine phosphorylation
GO:0032971 regulation of muscle filament sliding
GO:0035914 skeletal muscle cell differentiation
GO:0046777 protein autophosphorylation
GO:0055008 cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0030017 sarcomere
Protein Structure and Domains
PDB ID
InterPro IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR011009 Protein kinase-like domain
IPR020635 Tyrosine-protein kinase, catalytic domain
PFAM PF00069
PF07714
PRINTS PR00109
PIRSF
SMART SM00220
SM00219
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H1R3
PhosphoSite PhosphoSite-Q9H1R3
TrEMBL
UniProt Splice Variant
Entrez Gene 85366
UniGene
RefSeq
HUGO HGNC:16243
OMIM 606566
CCDS CCDS13191
HPRD 05953
IMGT
EMBL AF325549 AJ272502 AL160175 BC007753 BC069627 BC092413 BC127622
GenPept AAH07753 AAH69627 AAH92413 AAI27623 AAK15494 CAC10006 CAC81354