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
Acts upstream of or within developmental pigmentation; notochord development; and regulation of compound eye pigmentation. Predicted to be located in cytosol. Predicted to be part of BLOC-2 complex. Predicted to be active in cytoplasm. Is expressed in cranial ganglion; epidermis; neurons; notochord; and spinal cord. Used to study Hermansky-Pudlak syndrome and proteinuria. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 5. 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
Thisse Expression Data
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
1 - 1 of 1
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 hps5m454/m454 control Daly et al., 2013
1 - 3 of 3
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR056499 HPS5-like, beta-propeller domain
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
1 - 4 of 4
Domain Details Per Protein
Protein Additional Resources Length BLOC-2 complex member HPS5 HPS5-like, beta-propeller domain WD40-repeat-containing domain superfamily WD40/YVTN repeat-like-containing domain superfamily
UniProtKB:Q0VA83 InterPro 1174
UniProtKB:F6NLH0 InterPro 1133
1 - 2 of 2
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA hps5-201 (1)
Ensembl
Ensembl 4,125 nt
ZFIN BLAST
ncRNA hps5-002 (1)
Ensembl
Ensembl 486 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 inBACCH211-112D9ZFIN Curated Data
EncodesESTIMAGE:7159524Thisse et al., 2004
EncodescDNAMGC:162420ZFIN Curated Data
1 - 3 of 3
Show
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations
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