Hps5 Gene Summary [Mouse]
Acts upstream of or within blood coagulation and pigmentation. Predicted to be located in cytosol. Predicted to be part of BLOC-2 complex. Predicted to be active in cytoplasm. Used to study Hermansky-Pudlak syndrome 5 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 5. Orthologous to human HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | Hps5 |
| Official Name | HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 [Source:MGI Symbol;Acc:MGI:2180307] |
| Ensembl ID | ENSMUSG00000014418 |
| Bio databases IDs | |
| Aliases | HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
| 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 | 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 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 mouse 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