Hps1 Gene Summary [Mouse]
Predicted to enable protein dimerization activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including intracellular zinc ion homeostasis; positive regulation of natural killer cell activation; and secretion of lysosomal enzymes. Predicted to be located in cytoplasmic vesicle. Predicted to be part of BLOC-3 complex. Used to study Hermansky-Pudlak syndrome 1 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism. Orthologous to human HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Hps1 |
| Official Name | HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 [Source:MGI Symbol;Acc:MGI:2177763] |
| Ensembl ID | ENSMUSG00000025188 |
| Bio databases IDs | |
| Aliases | HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
| Synonyms | 6030422N11Rik, BLOC3S1, ep, Gm21361, HPS, HPS1 biogenesis of lysosomal organelles complex 3 subunit 1, HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
| 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 Hps1 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 dimerization
- Third Longin domain of FUZ, MON1 and HPS1
- First Longin domain of FUZ, MON1 and HPS1
- guanyl-nucleotide exchange factor
- protein binding
- protein fuzzy and homologs
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 1
- Hermansky-Pudlak syndrome
- acute myeloid leukemia
- systemic lupus erythematosus
- hereditary disorder
role in cell
- expression in
- formation
- assembly
- activation
- organization
- morphogenesis
- pigmentation
- localization
- differentiation
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
- vesicles
- lysosome
- cytosol
- cytoplasmic vesicles
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Hps1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- platelet dense granule organization
- lysosome organization
- vesicle-mediated transport
- intracellular transport
- visual perception
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- BLOC-3 complex
- cytoplasmic vesicle
- cytosol
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity
- protein dimerization activity