RBCC Red Blood Cell Collection

VINC_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: VCL
Protein names and data: VINC_HUMAN , Vinculin , Metavinculin; MV Lenght: 1134 a.a.
Mass: 123799 Da
fasta formatted sequence
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.
Disease: ( OMIM: 193065 611407 613255 ) Cardiomyopathy, dilated 1W (CMD1W) [MIM:611407]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry. Cardiomyopathy, familial hypertrophic 15 (CMH15) [MIM:613255]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, focal adhesion. Note=Cytoplasmic face of adhesion plaques. 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 (By similarity). Colocalizes with LIMD1 in the focal adhesions.
Tissue specificity: Metavinculin is muscle-specific.

Genetic variants

234 - 234 V -> L (in dbSNP:rs17853882). VAR_037667 17853882
277 - 277 L -> M (in CMH15). VAR_035101
934 - 934 A -> V (in dbSNP:rs16931179). VAR_035102 16931179
943 - 943 P -> A. VAR_035103
954 - 954 Missing (in CMD1W). VAR_035104
975 - 975 R -> W (in CMD1W; significantly alters metavinculin-mediated cross-linking of actin filaments). VAR_035105

Database cross-references

UniProt: P18206
Ensembl: ENST00000211998
Ensembl: ENST00000372755
MIM: 193065
MIM: 611407
MIM: 613255
neXtProt: NX_P18206
Antibodypedia: P18206 (may not find the protein thus also not any antibody)
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