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. 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
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bloc1s6 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Hermansky-Pudlak syndrome 9 Alliance ?Hermansky-pudlak syndrome 9 614171
Associated With bloc1s6 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR017242 BLOC-1 complex, pallidin subunit
Family IPR028119 Snapin/Pallidin/Snn1
Domain Details Per Protein
Protein Length BLOC-1 complex, pallidin subunit Snapin/Pallidin/Snn1
UniProtKB:E9QGH2 156
UniProtKB:A1L292 143
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations