VCL
Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Function
Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.
Biological Process
Biological Process adherens junction assembly Source:BHF-UCL1 Publication
Biological Process apical junction assembly Source:UniProtKB1 Publication
Biological Process axon extension Source:Ensembl
Biological Process cell adhesion Source:GO_Central1 Publication
Biological Process cell-matrix adhesion Source:BHF-UCL1 Publication
Biological Process epithelial cell-cell adhesion Source:BHF-UCL1 Publication
Biological Process lamellipodium assembly Source:UniProtKB
Biological Process maintenance of blood-brain barrier Source:ARUK-UCL1 Publication
Biological Process morphogenesis of an epithelium Source:BHF-UCL1 Publication
Biological Process negative regulation of cell migration Source:UniProtKB1 Publication
Biological Process platelet aggregation Source:UniProtKB1 Publication
Biological Process protein localization to cell surface Source:BHF-UCL1 Publication
Biological Process regulation of establishment of endothelial barrier Source:ARUK-UCL1 Publication
Biological Process regulation of focal adhesion assembly Source:ARUK-UCL1 Publication
Biological Process regulation of protein localization to adherens junction Source:ARUK-UCL1 Publication
Cellular Location
Cell membrane
Cell junction, adherens junction
Cell junction, focal adhesion
Cytoplasm, cytoskeleton
Cell membrane, sarcolemma
Recruitment to cell-cell junctions occurs in a myosin II-dependent manner. Interaction with CTNNB1 is necessary for its localization to the cell-cell junctions.
Involvement in disease
Cardiomyopathy, dilated 1W (CMD1W):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Cardiomyopathy, familial hypertrophic 15 (CMH15):
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.
PTM
Phosphorylated; on serines, threonines and tyrosines. Phosphorylation on Tyr-1133 in activated platelets affects head-tail interactions and cell spreading but has no effect on actin binding nor on localization to focal adhesion plaques (By similarity).
Acetylated; mainly by myristic acid but also by a small amount of palmitic acid.
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Datasheet