MYLK

Chr 3q21.1

myosin light chain kinase

Aliases:: MLCK, smMLCK, MYLK1, MLCK1, KRP
MANE:: ENST00000360304.8

OMIM: 600922 ↗NCBI: 4638 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

MYLK · Q15746

v62025-08-01

Predicted Aligned Error matrix for MYLK — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.9/ 100

Low

1,914 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)43%
Low(50–70)5%
Very low(< 50)35%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome
BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Pneumothorax - familial

Disease associations (Open Targets)

aortic aneurysm, familial thoracic 7
0.77
familial thoracic aortic aneurysm and aortic dissection
0.70
megacystis-microcolon-intestinal hypoperistalsis syndrome 1
0.64
megacystis-microcolon-intestinal hypoperistalsis syndrome
0.60
Rare genetic vascular disease
0.48
Rare disease with thoracic aortic aneurysm and aortic dissection
0.47
neurodegenerative disease
0.44
familial visceral myopathy
0.43
visceral myopathy 1
0.42
Familial hemophagocytic lymphohistiocytosis
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Myosin light chain kinase, smooth muscle

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