Entity Details
| Primary name |
HPS3_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q969F9 |
| EntryName | HPS3_HUMAN |
| FullName | Hermansky-Pudlak syndrome 3 protein |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1004 |
| SequenceStatus | complete |
| DateCreated | 2002-05-10 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR017216 | Hermansky-Pudlak syndrome 3 protein | Family | Family |
| IPR028167 | Hermansky-Pudlak syndrome 3, central region | Domain | Domain |
| IPR029437 | Hermansky-Pudlak syndrome 3 protein, N-terminal domain | Domain | Domain |
| IPR029438 | Hermansky-Pudlak syndrome 3 protein, C-terminal domain | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 614072 | OMIM | Hermansky-Pudlak syndrome 3 (HPS3) | A form of Hermansky-Pudlak syndrome, a genetically heterogeneous 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. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |