Scientific background: |
In mammalian cells, vinculin is a membrane-cytoskeletal protein in focal adhesion plaques that is
involved in linkage of integrin adhesion molecules to the actin cytoskeleton. By linkage studies in a
3-generation family, Mulligan et al. (1992) mapped the VCL gene to chromosome 10q22.1-q23, distal to
D10S22.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.
Multiple alternatively-spliced transcript variants have been found for this gene, but the biological validity
of some variants has not been determined. Human vinculin protein exhibits a greater-than-95%
sequence identity to the chicken vinculin protein.Vinculin is a 117-kDa cytoskeletal protein with 1066
amino acids. The protein contains an acidic N-terminal domain and a basic C-terminal domain
separated by a proline-rich middle segment. Vinculin consists of a globular head domain that contains
binding sites for talin and alpha-actinin as well as a tyrosine phosphorylation site, while the tail region
contains binding sites for F-actin, paxillin, and lipids. |
References: |
1. Bakolitsa, C., Cohen, D. M., Bankston, L. A., Bobkov, A. A., Cadwell, G. W., Jennings, L., Critchley,
D. R., Craig, S. W., Liddington, R. C.Structural basis for vinculin activation at sites of cell
adhesion.Nature 430: 583-586, 2004.
2. Mulligan, L. M., Gardner, E., Telenius, H., Ponder, B. A. J.Complementary physical and genetic
techniques map the vinculin (VCL) gene on chromosome 10q.Genomics 13: 1347-1349, 1992.
3. Vasile, V. C., Edwards, W. D., Ommen, S. R., Ackerman, M. J.Obstructive hypertrophic
cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc.Biochem.
Biophys. Res. Commun. 349: 709-715, 2006. |