Gene
hps1
- ID
- ZDB-GENE-051113-152
- Name
- HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
- Symbol
- hps1 Nomenclature History
- Previous Names
-
- im:7143944
- zgc:123240
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism. Is expressed in optic vesicle; pancreas; pancreatic bud; retina; and retinal pigmented epithelium. Orthologous to human HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7143944 (5 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Schenk et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Hermansky-Pudlak syndrome 1 | Alliance | Hermansky-Pudlak syndrome 1 | 203300 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| proteinuria | lri500Tg + MO1-hps1 | standard conditions | Schenk et al., 2019 |
| proteinuria | lri500Tg + MO2-hps1 | standard conditions | Schenk et al., 2019 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BLOC-3 complex member HPS1 | FUZ/MON1/HPS1, first Longin domain | FUZ/MON1/HPS1, second Longin domain | FUZ/MON1/HPS1, third Longin domain |
|---|---|---|---|---|---|
|
UniProtKB:Q32PM6
|
668 |
Interactions and Pathways
No data available
Plasmids
No data available