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. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 9. Is expressed in female organism. Orthologous to human BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression 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
Transcripts
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
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations