RBCC Red Blood Cell Collection

MYLK_HUMAN

Source: PM19886704
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: MYLK , MLCK, MLCK1, MYLK1
Protein names and data: MYLK_HUMAN , Myosin light chain kinase, smooth muscle; MLCK; smMLCK; 2.7.11.18 , Kinase-related protein; KRP; Telokin; Myosin light chain kinase, smooth muscle, deglutamylated form Lenght: 1914 a.a.
Mass: 210715 Da
fasta formatted sequence
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.
Catalytic activity: ATP + [myosin light-chain] = ADP + [myosin light-chain] phosphate.
Disease: ( OMIM: 600922 613780 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Cell projection, lamellipodium. Cleavage furrow. Cytoplasm, cytoskeleton. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis.
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).

Genetic variants

21 - 21 P -> H (in dbSNP:rs28497577). VAR_057106 28497577
128 - 128 A -> V (in dbSNP:rs143896146). VAR_065570 143896146
133 - 133 Q -> H (in dbSNP:rs140148380). VAR_065571 140148380
160 - 160 P -> R (in dbSNP:rs111256888). VAR_065572 111256888
261 - 261 V -> A (in dbSNP:rs3796164). VAR_040847 3796164
276 - 276 T -> A. VAR_040848
336 - 336 P -> L (in dbSNP:rs35912339). VAR_057107 35912339
378 - 378 R -> H. VAR_040849
405 - 405 M -> V (in dbSNP:rs35436690). VAR_040850 35436690
443 - 443 P -> S (in dbSNP:rs35156360). VAR_040851 35156360
607 - 607 R -> G. VAR_040852
652 - 652 P -> A. VAR_040853
656 - 656 W -> C (in dbSNP:rs138172035). VAR_040854 138172035
692 - 692 T -> M. VAR_040855
701 - 701 A -> T (in dbSNP:rs142835596). VAR_040856 142835596
709 - 709 V -> M. VAR_040857
845 - 845 R -> C (in dbSNP:rs3732485). VAR_057108 3732485
861 - 861 L -> P (in dbSNP:rs3732486). VAR_019986 3732486
877 - 877 V -> M (in dbSNP:rs34542174). VAR_057109 34542174
914 - 914 D -> E (in dbSNP:rs3732487). VAR_019987 3732487
1085 - 1085 T -> A (in dbSNP:rs75370906). VAR_065573 75370906
1213 - 1213 V -> M (found in a patient with familial aortic dissections). VAR_065574
1399 - 1399 E -> K (found in a patient with familial aortic dissections; dbSNP:rs181663420). VAR_065575 181663420
1527 - 1527 A -> V. VAR_040858
1588 - 1588 P -> L (in an ovarian mucinous carcinoma sample; somatic mutation). VAR_040859
1754 - 1754 A -> T (found in a patient with familial aortic dissections; binding to calmodulin is reduced; significant reduction in kinase activity compared to wild-type protein). VAR_065576
1759 - 1759 S -> P (in AAT7; shows minimal cells endogenous expression; binding to calmodulin is abolished; 6-fold reduction in kinase activity compared to wild-type protein). VAR_065577

Database cross-references

UniProt: Q15746
Ensembl: ENST00000346322
Ensembl: ENST00000359169
Ensembl: ENST00000360304
Ensembl: ENST00000360772
Ensembl: ENST00000418370
Ensembl: ENST00000475616
Ensembl: ENST00000583087
MIM: 600922
MIM: 613780
neXtProt: NX_Q15746
Antibodypedia: Q15746 (may not find the protein thus also not any antibody)
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