ZFIN is now using GRCz12tu for Genomic Data
Gene
bloc1s6
- ID
- ZDB-GENE-070112-1862
- Name
- biogenesis of lysosomal organelles complex 1 subunit 6
- Symbol
- bloc1s6 Nomenclature History
- Previous Names
-
- pldn
- zgc:158718 (1)
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable molecular adaptor activity. Predicted to be involved in melanosome transport and synaptic vesicle recycling via endosome. Predicted to be located in cytoplasm and presynapse. Predicted to be part of BLOC-1 complex. Predicted to be active in several cellular components, including focal adhesion; postsynapse of neuromuscular junction; and stress fiber. Is expressed in female organism. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 9. 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 | Additional Resources | Length | BLOC-1 complex, pallidin subunit | Snapin/Pallidin/Snn1 |
|---|---|---|---|---|
| UniProtKB:E9QGH2 | InterPro | 156 |
- Genome Browsers
| 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
- Genome Browsers