Gene
bloc1s1
- ID
- ZDB-GENE-050208-569
- Name
- biogenesis of lysosomal organelles complex-1, subunit 1
- Symbol
- bloc1s1 Nomenclature History
- Previous Names
-
- si:dkey-102c8.4
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Involved in pigment granule organization; surfactant homeostasis; and swim bladder development. Predicted to localize to BLOC-1 complex and mitochondrion. Used to study Hermansky-Pudlak syndrome. Is expressed in brain; gut; inner ear; pneumatic duct; and swim bladder. Orthologous to human BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu544 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 6 figures from Chen et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Hermansky-Pudlak syndrome | bloc1s1ihb815/ihb815 | standard conditions | Chen et al., 2018 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR009395 | Biogenesis of lysosome-related organelles complex 1 subunit 1 |
Domain Details Per Protein
| Protein | Length | Biogenesis of lysosome-related organelles complex 1 subunit 1 |
|---|---|---|
|
UniProtKB:Q1LXG2
|
125 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bloc1s1-201
(1)
|
Ensembl | 563 nt |
Interactions and Pathways
No data available
Plasmids
No data available