HPS4 Hermansky-Pudlak Syndrome 4 [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: HPS4provided by FlyBase
Official Full Name: Hermansky-Pudlak Syndrome 4provided by FlyBase
Primary source: FLYBASE:FBgn0034261
Locus tag: Dmel_CG4966
See related: AllianceGenome:FB:FBgn0034261
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: CG4966; dHPS4; Dmel\CG4966; NP_725707
Summary: Predicted to enable small GTPase binding activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Involved in ommochrome biosynthetic process. Located in late endosome membrane and lysosomal membrane. Part of BLOC-3 complex. Is expressed in several structures, including embryonic/larval midgut primordium; eye disc; ganglia; gut section; and larval central nervous system. 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). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	2R	NT_033778.4 (17683574..17690822)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	2R	NT_033778.3 (13571079..13578327)

Chromosome 2R - NT_033778.4 Genomic Context describing neighboring genes

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Submit: New GeneRIF Correction

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

Function	Evidence Code	Pubs
contributes_to guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in ommochrome biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ommochrome biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BLOC-3 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-3 complex	IDA Inferred from Direct Assay more info	PubMed
part_of BLOC-3 complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed