Vinculin est un gène codé par le symbole VCL. Il est également connu sous le nom de: MetaMV; VCL. Vinculin a une masse de 123.8kDa, une longueur d'acide aminé de 1134, et est impliqué dans les maladies: Cardiomyopathy, dilated 1W; Cardiomyopathy, familial hypertrophic 15.
Nous proposons 24 des anticorps contre Vinculin, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, Cytométrie en Flux et IP avec des échantillons dérivés de Humain, Souris, Rat, Bovin, Porcin, Lapin, Poulet et Bird.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
Metavinculin is muscle-specific.
Implication dans la maladie
Cardiomyopathy, dilated 1W: 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: 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.
Similitudes de séquence
Belongs to the vinculin/alpha-catenin family.
Modification post-traductionnelle
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).
Localisation cellulaire
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.
