Gene

hps5

ID

ZDB-GENE-070410-80

Name

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

Symbol

hps5 Nomenclature History

Previous Names

snow white (1)
snw
zgc:162420 (1)

Type

protein_coding_gene

Location

Chr: 25 Mapping Details/Browsers

Description

Involved in developmental pigmentation; notochord development; and regulation of compound eye pigmentation. Predicted to localize to BLOC-2 complex. Used to study Hermansky-Pudlak syndrome. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 5. Is expressed in cranial ganglion; epidermis; neurons; notochord; and spinal cord. Orthologous to human HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7159524 (12 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 9 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With hps5 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Hermansky-Pudlak syndrome 5	Alliance	Hermansky-Pudlak syndrome 5	614074

Associated With hps5 Via Experimental Models

Human Disease	Fish	Conditions	Citations
proteinuria	lri500Tg + MO2-hps5	standard conditions	Schenk et al., 2019
proteinuria	lri500Tg + MO3-hps5	standard conditions	Schenk et al., 2019
Hermansky-Pudlak syndrome	hps5^m454/m454	control	Daly et al., 2013

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR035431	BLOC-2 complex member HPS5
Homologous_superfamily	IPR015943	WD40/YVTN repeat-like-containing domain superfamily
Homologous_superfamily	IPR036322	WD40-repeat-containing domain superfamily