Gene
hps3
- ID
- ZDB-GENE-061110-115
- Name
- HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
- Symbol
- hps3 Nomenclature History
- Previous Names
-
- zgc:152969
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to be involved in organelle organization. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 3. Orthologous to human HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 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 3 | Alliance | Hermansky-Pudlak syndrome 3 | 614072 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BLOC-2 complex member HPS3, C-terminal domain | BLOC-2 complex member HPS3, N-terminal domain | Hermansky-Pudlak syndrome 3 protein |
|---|---|---|---|---|
|
UniProtKB:A0A0R4IZE2
|
1003 | |||
|
UniProtKB:A0A8M2B8S1
|
1037 |
Interactions and Pathways
No data available
Plasmids
No data available