Hps6 - HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 Gene

Also Known as ru; BLOC2; 5330434M19Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 20170

Summary

Predicted to enable GTP-dependent protein binding activity and small GTPase binding activity. Involved in lipid homeostasis; lysosome localization; and protein secretion. Acts upstream of or within blood coagulation; melanocyte differentiation; and organelle organization. Predicted to be located in several cellular components, including endoplasmic reticulum; endosome; and lysosome. Predicted to be part of BLOC-2 complex. Predicted to be active in lysosomal membrane. Used to study Hermansky-Pudlak syndrome 6. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 6. Orthologous to human HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3). [provided by Alliance of Genome Resources, Apr 2022]

Hps6 Products (1)

mRNA Protein Name
NM_176785.3 NP_789742.2 BLOC-2 complex member HPS6

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 lipid homeostasis IMP
IMP: Inferred from mutant phenotype
30710063 MGI
acts upstream of or within lipid metabolic process IMP
IMP: Inferred from mutant phenotype
30710063 MGI
involved in lysosome localization IMP
IMP: Inferred from mutant phenotype
25189619 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
acts upstream of or within protein secretion IMP
IMP: Inferred from mutant phenotype
29074498 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 HPS6

  • hermansky-Pudlak syndrome 6 protein homolog

  • ruby eye

  • ruby-eye protein

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06349 HPS6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Hps6 NCBI NCBI:79803