Gene

hps1

ID
ZDB-GENE-051113-152
Name
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Symbol
hps1 Nomenclature History
Previous Names
  • im:7143944
  • zgc:123240
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism. Is expressed in optic vesicle; pancreas; pancreatic bud; retina; and retinal pigmented epithelium. Orthologous to human HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Schenk et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With hps1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Hermansky-Pudlak syndrome 1 Alliance Hermansky-Pudlak syndrome 1 203300
Associated With hps1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR043970 FUZ/MON1/HPS1, third Longin domain
Domain IPR043971 FUZ/MON1/HPS1, second Longin domain
Domain IPR043972 FUZ/MON1/HPS1, first Longin domain
Family IPR026053 BLOC-3 complex member HPS1
Domain Details Per Protein
Protein Length BLOC-3 complex member HPS1 FUZ/MON1/HPS1, first Longin domain FUZ/MON1/HPS1, second Longin domain FUZ/MON1/HPS1, third Longin domain
UniProtKB:Q32PM6 668
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