HPS3 Gene Summary [Human]
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
Details
| Type | Retained Intron |
| Official Symbol | HPS3 |
| Official Name | HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 [Source:HGNC Symbol;Acc:HGNC:15597] |
| Ensembl ID | ENSG00000163755 |
| Bio databases IDs | |
| Aliases | HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 |
| Synonyms | BLOC2S1, coa, HPS3 biogenesis of lysosomal organelles complex 2 subunit 1, HPS3, biogenesis of lysosomal organelles complex 2 subunit 1, SUTAL |
| 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 HPS3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Hermansky-Pudlak syndrome 3
- protein binding
- Hermansky-Pudlak syndrome 3, middle region
- Hermansky-Pudlak syndrome 3, C-terminal
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 3
- Hermansky-Pudlak syndrome type 2
- serous ovarian adenocarcinoma
- serous ovarian cancer
- Hermansky-Pudlak syndrome
role in cell
- formation
- organization
- depletion in
- 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
- early endosomes
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HPS3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- platelet dense granule organization
- intracellular transport
- organelle organization
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