CD151 Human Protein

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

CD151: Essential for the proper assembly of the glomerular and tubular basement membranes in kidney. Defects in CD151 are the cause of nephropathy with pretibial epidermolysis bullosa and deafness (NPEBD). NPEBD is characterized by the association of hereditary nephritis, epidermolysis bullosa, deafness, and beta-thalassemia minor. Belongs to the tetraspanin (TM4SF) family.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 11p15.5

Cellular Component: focal adhesion; membrane; integral to plasma membrane; plasma membrane; cytosol

Molecular Function: integrin binding; protein binding

Biological Process: T cell proliferation; extracellular matrix organization and biogenesis; cell migration; hemidesmosome assembly; cell adhesion

Disease: Raph Blood Group System; Nephropathy With Pretibial Epidermolysis Bullosa And Deafness