Hps5 - HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 Gene

Also Known as hz; mr; ru2; haze; ru-2; maroon

Species: Mus musculus

Gene Type: protein coding
Gene ID: 246694

Summary

Acts upstream of or within blood coagulation; organelle organization; and pigmentation. Predicted to be located in cytosol. Predicted to be part of BLOC-2 complex. Used to study Hermansky-Pudlak syndrome 5 and platelet storage pool deficiency. 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). [provided by Alliance of Genome Resources, Apr 2022]

Hps5 Products (3)

mRNA Protein Name
NM_001005247.2 NP_001005247.2 BLOC-2 complex member HPS5 isoform 1
NM_001005248.2 NP_001005248.2 BLOC-2 complex member HPS5 isoform 1
NM_001167864.1 NP_001161336.1 BLOC-2 complex member HPS5 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12548288 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within blood coagulation IMP
IMP: Inferred from mutant phenotype
6696991 MGI
acts upstream of or within organelle organization IMP
IMP: Inferred from mutant phenotype
12548288 MGI
acts upstream of or within pigmentation IMP
IMP: Inferred from mutant phenotype
2379821 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

BLOC-2 complex member HPS5

Hermansky-Pudlak syndrome 5 protein homolog

  • Hermansky-Pudlak syndrome 5 homolog

  • hermansky-Pudlak syndrome 5 protein homolog

  • ruby eye 2

  • ruby-eye protein 2

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06348 HPS5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Hps5 NCBI NCBI:11234