Homo sapiens Protein: MYLK | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-719769.3 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | MYLK | ||||||||||||||||||||||
Protein Name | |||||||||||||||||||||||
Synonyms | AAT7; KRP; MLCK; MLCK1; MLCK108; MLCK210; MSTP083; MYLK1; smMLCK; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000462118 | ||||||||||||||||||||||
InnateDB Gene | IDBG-53043 (MYLK) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessary for physiological and asthmatic airway resistance. Necessary for gastrointestinal motility. Implicated in the regulation of endothelial as well as vascular permeability, probably via the regulation of cytoskeletal rearrangements. In the nervous system it has been shown to control the growth initiation of astrocytic processes in culture and to participate in transmitter release at synapses formed between cultured sympathetic ganglion cells. Critical participant in signaling sequences that result in fibroblast apoptosis. Plays a role in the regulation of epithelial cell survival. Required for epithelial wound healing, especially during actomyosin ring contraction during purse-string wound closure. Mediates RhoA- dependent membrane blebbing. Triggers TRPC5 channel activity in a calcium-dependent signaling, by inducing its subcellular localization at the plasma membrane. Promotes cell migration (including tumor cells) and tumor metastasis. PTK2B/PYK2 activation by phosphorylation mediates ITGB2 activation and is thus essential to trigger neutrophil transmigration during acute lung injury (ALI). May regulate optic nerve head astrocyte migration. Probably involved in mitotic cytoskeletal regulation. Regulates tight junction probably by modulating ZO-1 exchange in the perijunctional actomyosin ring. Mediates burn-induced microvascular barrier injury; triggers endothelial contraction in the development of microvascular hyperpermeability by phosphorylating MLC. Essential for intestinal barrier dysfunction. Mediates Giardia spp.-mediated reduced epithelial barrier function during giardiasis intestinal infection via reorganization of cytoskeletal F-actin and tight junctional ZO-1. Necessary for hypotonicity-induced Ca(2+) entry and subsequent activation of volume-sensitive organic osmolyte/anion channels (VSOAC) in cervical cancer cells. Responsible for high proliferative ability of breast cancer cells through anti-apoptosis. {ECO:0000269PubMed:11113114, ECO:0000269PubMed:11976941, ECO:0000269PubMed:15020676, ECO:0000269PubMed:15825080, ECO:0000269PubMed:16284075, ECO:0000269PubMed:16723733, ECO:0000269PubMed:18587400, ECO:0000269PubMed:18710790, ECO:0000269PubMed:19826488, ECO:0000269PubMed:20139351, ECO:0000269PubMed:20181817, ECO:0000269PubMed:20375339, ECO:0000269PubMed:20453870}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm. Cell projection, lamellipodium. Cleavage furrow. Cytoplasm, cytoskeleton. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis. | ||||||||||||||||||||||
Disease Associations | Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269PubMed:21055718}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Smooth muscle and non-muscle isozymes are expressed in a wide variety of adult and fetal tissues and in cultured endothelium with qualitative expression appearing to be neither tissue- nor development-specific. Non-muscle isoform 2 is the dominant splice variant expressed in various tissues. Telokin has been found in a wide variety of adult and fetal tissues. Accumulates in well differentiated enterocytes of the intestinal epithelium in response to tumor necrosis factor (TNF). {ECO:0000269PubMed:10536370, ECO:0000269PubMed:16835238, ECO:0000269PubMed:20053363, ECO:0000269PubMed:8575746}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR003598
Immunoglobulin subtype 2 IPR003599 Immunoglobulin subtype IPR007110 Immunoglobulin-like domain IPR013098 Immunoglobulin I-set IPR013151 Immunoglobulin |
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PFAM |
PF07679
PF00047 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00408
SM00409 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q15746 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q15746 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4638 | ||||||||||||||||||||||
UniGene | Hs.638679 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:7590 | ||||||||||||||||||||||
OMIM | 600922 | ||||||||||||||||||||||
CCDS | CCDS46897 | ||||||||||||||||||||||
HPRD | 02952 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB037663 AC020634 AC023165 AF069601 AF069602 AF069603 AF069604 AF096766 AF096767 AF096768 AF096769 AF096770 AF096771 AF096773 AF096774 AF096775 AK300610 AK314412 AK314443 AY339601 AY424269 AY424270 BC064420 BC100761 BC100762 BC100763 CH471052 U48959 X85337 X90870 | ||||||||||||||||||||||
GenPept | AAC18423 AAD15921 AAD15922 AAD15923 AAD15924 AAD51380 AAD51381 AAD54017 AAD54018 AAD54019 AAH64420 AAI00762 AAI00763 AAI00764 AAQ02673 AAR29061 AAR29062 BAB21504 BAG37033 BAG37052 BAG62305 CAA59685 CAA62378 EAW79438 EAW79439 EAW79440 EAW79441 | ||||||||||||||||||||||