Hps4 Gene Summary [Mouse]
Enables small GTPase binding activity. Acts upstream of or within blood coagulation and melanocyte differentiation. Located in cytoplasmic vesicle. Is expressed in midgut and midgut loop. Used to study Hermansky-Pudlak syndrome 4 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 4; and schizophrenia. Orthologous to human HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Hps4 |
| Official Name | HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 [Source:MGI Symbol;Acc:MGI:2177742] |
| Ensembl ID | ENSMUSG00000042328 |
| Bio databases IDs | |
| Aliases | HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
| Synonyms | 2010205O06Rik, BLOC-3, BLOC3S2, C130020P05Rik, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2, HPS4, biogenesis of lysosomal organelles complex 3 subunit 2, LE, mKIAA1667 |
| 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 Hps4 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
- guanyl-nucleotide exchange factor
- Intu longin-like domain 3
- enzyme binding
- protein homodimerization
- protein binding
- First Longin domain of INTU, CCZ1 and HPS4
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- hermansky-pudlak syndrome type 4
- ischemic stroke
- Hermansky-Pudlak syndrome
- generalized epilepsy
regulated by
role in cell
- accumulation in
- accumulation
- differentiation
- organization
- assembly
- silencing in
- recovery in
- pigmentation
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
- cellular membrane
- vesicles
- lysosome
- cytosol
- cytoplasmic vesicles
- melanosomes
- secretory granules
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Hps4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- platelet dense granule organization
- protein targeting
- lysosome organization
- melanocyte differentiation
- vesicle-mediated transport
- positive regulation of eye pigmentation
- intracellular transport
- blood coagulation
- protein stabilization
- hemostasis
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- platelet dense granule
- melanosome
- membrane
- BLOC-3 complex
- cytosol
- cytoplasmic vesicle
- lysosomal membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- guanyl-nucleotide exchange factor activity
- small GTPase binding
- protein dimerization activity