Gene

hps3

ID
ZDB-GENE-061110-115
Name
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
Symbol
hps3 Nomenclature History
Previous Names
  • zgc:152969
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Predicted to be involved in organelle organization. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 3. Orthologous to human HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Schenk et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With hps3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Hermansky-Pudlak syndrome 3 Alliance Hermansky-Pudlak syndrome 3 614072
Associated With hps3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR028167 Hermansky-Pudlak syndrome 3, central region
Domain IPR029437 Hermansky-Pudlak syndrome 3 protein, N-terminal domain
Domain IPR029438 Hermansky-Pudlak syndrome 3 protein, C-terminal domain
Family IPR017216 Hermansky-Pudlak syndrome 3 protein
Domain Details Per Protein
Protein Length Hermansky-Pudlak syndrome 3, central region Hermansky-Pudlak syndrome 3 protein Hermansky-Pudlak syndrome 3 protein, C-terminal domain Hermansky-Pudlak syndrome 3 protein, N-terminal domain
UniProtKB:F1R654 1042
UniProtKB:A0A0R4IZE2 1003
UniProtKB:A0AUQ0 524
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