Vinculin è un gene codificato dal simbolo VCL. È noto anche come: MetaMV; VCL. Vinculin ha una massa di 123.8kDa, una lunghezza di amminoacidi di 1134, ed è implicato nella malattia: Cardiomyopathy, dilated 1W; Cardiomyopathy, familial hypertrophic 15.
Offriamo 24 anticorpi contro Vinculin, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF, Citometria a Flusso e IP con campioni derivati da Umano, Topo, Ratto, Bovino, Maiale, Coniglio, Pollo e Bird.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Metavinculin is muscle-specific.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the vinculin/alpha-catenin family.
Modifica post-translazionale
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).
Posizione cellulare
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.
