| UniProt Protein Function: | Function: This antigen is associated with early stages of melanoma tumor progression. May play a role in growth regulation. |
| UniProt Protein Details: | Subcellular location: Cell membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Note: Also found in Weibel-Palade bodies of endothelial cells. Located in platelet dense granules. Ref.3 Ref.13 Ref.15 Ref.17 Ref.18 Tissue specificity: Dysplastic nevi, radial growth phase primary melanomas, hematopoietic cells, tissue macrophages. Miscellaneous: Lack of expression of CD63 in platelets has been observed in a patient with Hermansky-Pudlak syndrome (HPS). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Sequence similarities: Belongs to the tetraspanin (TM4SF) family. |
| NCBI Summary: | 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. The 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. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012] |
| UniProt Code: | P08962 |
| NCBI GenInfo Identifier: | 383872547 |
| NCBI Gene ID: | 967 |
| NCBI Accession: | NP_001244330.1 |
| UniProt Secondary Accession: | P08962,Q5TZP3, Q8N6Z9, Q9UCG6, F8VZE2, |
| UniProt Related Accession: | P08962 |
| Molecular Weight: | |
| NCBI Full Name: | CD63 antigen isoform D |
| NCBI Synonym Full Names: | CD63 molecule |
| NCBI Official Symbol: | CD63 |
| NCBI Official Synonym Symbols: | MLA1; ME491; LAMP-3; OMA81H; TSPAN30 |
| NCBI Protein Information: | CD63 antigen; tspan-30; granulophysin; tetraspanin-30; melanoma-associated antigen MLA1; CD63 antigen (melanoma 1 antigen); melanoma-associated antigen ME491; ocular melanoma-associated antigen; lysosomal-associated membrane protein 3; lysosome-associated membrane glycoprotein 3 |
| UniProt Protein Name: | CD63 antigen |
| UniProt Synonym Protein Names: | Granulophysin; Lysosomal-associated membrane protein 3; LAMP-3; Melanoma-associated antigen ME491; OMA81H; Ocular melanoma-associated antigen; Tetraspanin-30 |
| Protein Family: | CD63 antigen |
| UniProt Gene Name: | CD63 |
| UniProt Entry Name: | CD63_HUMAN |
