Gene
bloc1s3
- ID
- ZDB-GENE-050913-10
- Name
- biogenesis of lysosomal organelles complex-1, subunit 3
- Symbol
- bloc1s3 Nomenclature History
- Previous Names
-
- hps8 (1)
- zgc:114034
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to localize to BLOC-1 complex. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 8. Orthologous to human BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:114034 (1 image)
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 8 | Alliance | Hermansky-Pudlak syndrome 8 | 614077 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR017245 | BLOC-1 complex, subunit 3 |
Domain Details Per Protein
| Protein | Length | BLOC-1 complex, subunit 3 |
|---|---|---|
|
UniProtKB:Q4V924
|
204 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
cr387932.1-201
(1)
|
Ensembl | 933 nt | ||
| mRNA |
bloc1s3-201
(1)
|
Ensembl | 952 nt | ||
| mRNA |
bloc1s3-202
(1)
|
Ensembl | 1,430 nt | ||
| mRNA |
bloc1s3-203
(1)
|
Ensembl | 4,449 nt |
Interactions and Pathways
No data available
Plasmids
No data available