Hps4 - HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 Gene

Also Known as le; BLOC-3; mKIAA1667; 2010205O06Rik; C130020P05Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 192232

Summary

Enables small GTPase binding activity. Acts upstream of or within blood coagulation; melanocyte differentiation; and organelle organization. Located in cytoplasmic vesicle. Is expressed in midgut and midgut loop. Used to study Hermansky-Pudlak syndrome 4 and platelet storage pool deficiency. 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, Apr 2022]

Hps4 Products (2)

mRNA Protein Name
NM_001359853.1 NP_001346782.1 BLOC-3 complex member HPS4
NM_138646.3 NP_619587.3 BLOC-3 complex member HPS4

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables small GTPase binding IPI
IPI: Inferred from physical interaction
20048159 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 melanocyte differentiation IMP
IMP: Inferred from mutant phenotype
11836498 MGI
acts upstream of or within organelle organization IMP
IMP: Inferred from mutant phenotype
11836498 MGI
Cellular Component GO Annotation Evidence References Source
located in cytoplasmic vesicle IDA
IDA: Inferred from direct assay
11836498 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-3 complex member HPS4

Hermansky-Pudlak syndrome 4 protein homolog

  • Hermansky-Pudlak syndrome 4 homolog

  • hermansky-Pudlak syndrome 4 protein homolog

  • light ear

  • light-ear protein

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06347 HPS4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Hps4 NCBI NCBI:89781