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Gene

hps4

ID
ZDB-GENE-040426-1068
Name
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Symbol
hps4 Nomenclature History
Previous Names
  • zgc:56538 (1)
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to contribute to guanyl-nucleotide exchange factor activity. Predicted to be involved in melanosome assembly and protein targeting. Predicted to act upstream of or within vesicle-mediated transport. Predicted to be part of BLOC-3 complex. Predicted to be active in cytoplasmic vesicle and lysosomal membrane. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 4; and schizophrenia. Orthologous to human HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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 hps4 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Hermansky-Pudlak syndrome 4 Alliance Hermansky-Pudlak syndrome 4 614073
Associated With hps4 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR043987 CCZ1/INTU/HSP4, first Longin domain
Domain IPR043989 CCZ1/INTU/HPS4, third Longin domain
Family IPR026091 Hermansky-Pudlak syndrome 4 protein
Domain Details Per Protein
Protein Length CCZ1/INTU/HPS4, third Longin domain CCZ1/INTU/HSP4, first Longin domain Hermansky-Pudlak syndrome 4 protein
UniProtKB:A9C463 647
UniProtKB:Q7ZTX8 647
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