HPS6 Gene Summary [Human]
This intronless 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 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HPS6 |
| Official Name | HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [Source:HGNC Symbol;Acc:HGNC:18817] |
| Ensembl ID | ENSG00000166189 |
| Bio databases IDs | |
| Aliases | HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 |
| Synonyms | 5330434M19Rik, BLOC2, BLOC2S3, HPS6 biogenesis of lysosomal organelles complex 2 subunit 3, HPS6, biogenesis of lysosomal organelles complex 2 subunit 3, Hsp6, ru |
| 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 HPS6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GTP-dependent protein binding
- enzyme binding
- protein binding
- Hermansky-Pudlak syndrome 6 protein C-terminal domain
- Hermansky-Pudlak syndrome 6 protein N-terminal domain
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
- hermansky-pudlak syndrome type 6
- chronic periodontal disease
role in cell
- signaling in
- deposition
- accumulation in
- fusion
- exocytosis by
- exocytosis
- organization
- ultrastructure
- localization
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
- membrane fraction
- intracellular membrane-bounded organelle
- cytosol
- lysosome membrane
- nucleoplasm
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HPS6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome localization
- platelet dense granule organization
- lipid homeostasis
- intracellular transport
- lipid metabolic process
- protein localization in membrane
- blood coagulation
- organelle organization
- protein secretion
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- early endosome
- BLOC-2 complex
- membrane
- cytosol
- endoplasmic reticulum
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- small GTPase binding
- GTP-dependent protein binding