HPS5 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HPS5 |
| Official Name | HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 [Source:HGNC Symbol;Acc:HGNC:17022] |
| Ensembl ID | ENSG00000110756 |
| Bio databases IDs | |
| Aliases | HPS5 biogenesis of lysosomal organelles complex 2 subunit 2, alpha-integrin-binding protein 63, Ruby-eye protein 2 homolog |
| Synonyms | Aa2-028, Ab1-018, AIBP63, BLOC2S2, C85120, haze, HPS5 biogenesis of lysosomal organelles complex 2 subunit 2, HPS5, biogenesis of lysosomal organelles complex 2 subunit 2, hz, maroon, mr, ru-2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HPS5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hermansky-pudlak syndrome type 5
- coronary disease
- Hermansky-Pudlak syndrome
- idiopathic scoliosis
role in cell
- binding in
- proliferation
- formation
- organization
- G1 checkpoint
- ultrastructure
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HPS5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- platelet dense granule organization
- developmental pigmentation
- intracellular transport
- blood coagulation
Cellular Component
Where in the cell the gene product is active
- early endosome
- cytoplasm
- BLOC-2 complex
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding