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. Is expressed in brain; gut; inner ear; pneumatic duct; and swim bladder. Used to study Hermansky-Pudlak syndrome. Orthologous to human BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from Chen et al., 2018
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bloc1s1 Human Ortholog
No data available
Associated With bloc1s1 Via Experimental Models
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations