Gene

hps5

ID
ZDB-GENE-070410-80
Name
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Symbol
hps5 Nomenclature History
Previous Names
  • snow white (1)
  • snw
  • zgc:162420 (1)
Type
protein_coding_gene
Location
Chr: 25 Mapping Details/Browsers
Description
Acts upstream of or within developmental pigmentation; notochord development; and regulation of compound eye pigmentation. Predicted to be located in cytoplasm. Predicted to be part of BLOC-2 complex. Is expressed in cranial ganglion; epidermis; neurons; notochord; and spinal cord. Used to study Hermansky-Pudlak syndrome and proteinuria. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 5. Orthologous to human HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With hps5 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Hermansky-Pudlak syndrome 5 Alliance Hermansky-Pudlak syndrome 5 614074
Associated With hps5 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR035431 Hermansky-Pudlak syndrome 5 protein
Homologous_superfamily IPR015943 WD40/YVTN repeat-like-containing domain superfamily
Homologous_superfamily IPR036322 WD40-repeat-containing domain superfamily
Domain Details Per Protein
Protein Length Hermansky-Pudlak syndrome 5 protein WD40-repeat-containing domain superfamily WD40/YVTN repeat-like-containing domain superfamily
UniProtKB:A1A5E6 998
UniProtKB:F6NLH0 1133
UniProtKB:Q0VA83 1174
UniProtKB:A4IG96 187
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