| UniProt Protein Function: | HPS5: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. Defects in HPS5 are the cause of Hermansky-Pudlak syndrome type 5 (HPS5). 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. Belongs to the HPS5 family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 11p14 Biological Process: pigmentation; organelle organization and biogenesis; blood coagulation Disease: Hermansky-pudlak Syndrome 5 |
| NCBI Summary: | This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q9UPZ3 |
| NCBI GenInfo Identifier: | 29429222 |
| NCBI Gene ID: | 11234 |
| NCBI Accession: | Q9UPZ3.2 |
| UniProt Secondary Accession: | Q9UPZ3,O95942, Q8N4U0, A8K6J8, A8K8S1, D3DQX9, D3DQY0 |
| UniProt Related Accession: | Q9UPZ3 |
| Molecular Weight: | 1129 |
| NCBI Full Name: | Hermansky-Pudlak syndrome 5 protein |
| NCBI Synonym Full Names: | Hermansky-Pudlak syndrome 5 |
| NCBI Official Symbol: | HPS5 |
| NCBI Official Synonym Symbols: | AIBP63 |
| NCBI Protein Information: | Hermansky-Pudlak syndrome 5 protein; ruby-eye protein 2 homolog; alpha integrin binding protein 63; alpha-integrin-binding protein 63 |
| UniProt Protein Name: | Hermansky-Pudlak syndrome 5 protein |
| UniProt Synonym Protein Names: | Alpha-integrin-binding protein 63; Ruby-eye protein 2 homolog; Ru2 |
| Protein Family: | Hermansky-Pudlak syndrome 5 protein |
| UniProt Gene Name: | HPS5 |
| UniProt Entry Name: | HPS5_HUMAN |
