HPS1 Gene Summary [Human]
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
Details
| Type | Protein Coding |
| Official Symbol | HPS1 |
| Official Name | HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [Source:HGNC Symbol;Acc:HGNC:5163] |
| Ensembl ID | ENSG00000107521 |
| 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 | 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 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 human 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