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 enable small GTPase binding activity. 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
1 - 1 of 1
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 BLOC-3 complex member HPS4
1 - 3 of 3
Domain Details Per Protein
Protein Additional Resources Length BLOC-3 complex member HPS4 CCZ1/INTU/HPS4, third Longin domain CCZ1/INTU/HSP4, first Longin domain
UniProtKB:Q7ZTX8 InterPro 647
UniProtKB:A0AB32TU32 InterPro 565
1 - 2 of 2
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA hps4-201 (1)
Ensembl
Ensembl 2,372 nt
ZFIN BLAST
mRNA hps4-202 (1)
Ensembl
Ensembl 3,178 nt
ZFIN BLAST
1 - 2 of 2
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-170D8ZFIN Curated Data
EncodescDNAMGC:56538ZFIN Curated Data
1 - 2 of 2
Show
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations
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