Gene
bloc1s6
- ID
- ZDB-GENE-070112-1862
- Name
- biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
- Symbol
- bloc1s6 Nomenclature History
- Previous Names
-
- pldn
- zgc:158718 (1)
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to be involved in intracellular transport. Predicted to localize to BLOC-1 complex; extrinsic component of membrane; and transport vesicle. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 9. Is expressed in female organism. Orthologous to human BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Hermansky-Pudlak syndrome 9 | Alliance | Hermansky-Pudlak syndrome 9 | 614171 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BLOC-1 complex, pallidin subunit | Snapin/Pallidin/Snn1 |
|---|---|---|---|
|
UniProtKB:E9QGH2
|
156 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bloc1s6-201
(1)
|
Ensembl | 870 nt |
Interactions and Pathways
No data available
Plasmids
No data available