CD63
Description
The CD63 (CD63 molecule) is a protein-coding gene located on chromosome 12.
CD63 antigen is a protein that, in humans, is encoded by the CD63 gene. CD63 is mainly associated with membranes of intracellular vesicles, although cell surface expression may be induced. 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. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak Syndrome . Also this gene has been associated with tumor progression. The use of alternate polyadenylation sites has been found for this gene.
CD63 acts as a cell surface receptor for TIMP1, triggering cellular signaling cascades. It activates ITGB1 and integrin signaling, which in turn activates AKT, FAK/PTK2, and MAP kinases. This activation promotes cell survival, reorganizes the actin cytoskeleton, and enhances cell adhesion, spreading, and migration. CD63 also plays a role in VEGFA signaling by regulating the internalization of KDR/VEGFR2. It participates in intracellular vesicular transport processes and is essential for the normal trafficking of the PMEL luminal domain, which is crucial for melanocyte development and maturation. CD63 contributes to the adhesion of leukocytes to endothelial cells by regulating SELP trafficking. It may also play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in response to other stimuli. CD63 interacts with TIMP1 and ITGB1, and recruits TIMP1 to ITGB1. It also interacts with CD9 and has been identified in a complex with CD9 and ITGB3. Furthermore, CD63 interacts with PMEL and KDR/VEGFR2, and is required to recruit KDR to ITGB1 complexes.
CD63 is also known as AD1, HOP-26, ME491, MLA1, OMA81H, Pltgp40, TSPAN30.
Associated Diseases
- cancer
- glioblastoma
- breast cancer
- nephronophthisis
- laryngotracheoesophageal cleft
- Senior-Loken syndrome
- mitochondrial DNA depletion syndrome 4a
- Dravet syndrome
- refractive error
- renal hypoplasia
