Hps3 Gene Summary [Mouse]
Acts upstream of or within pigmentation. Located in cytoplasm. Used to study Hermansky-Pudlak syndrome 3 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 3. Orthologous to human HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Hps3 |
| Official Name | HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 [Source:MGI Symbol;Acc:MGI:2153839] |
| Ensembl ID | ENSMUSG00000027615 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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 mouse 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