Hps1 - HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 Gene

Also Known as ep; Hps; Gm21361; 6030422N11Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 192236

Summary

Predicted to enable protein dimerization activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Involved in lipid homeostasis and protein secretion. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including cellular zinc ion homeostasis; positive regulation of natural killer cell activation; and secretion of lysosomal Enzymes. Predicted to be located in cytoplasmic vesicle. Predicted to be part of BLOC-3 complex. Used to study Hermansky-Pudlak syndrome 1 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism. Orthologous to human HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1). [provided by Alliance of Genome Resources, Apr 2022]

Hps1 Products (3)

mRNA Protein Name
NM_001346703.2 NP_001333632.1 BLOC-3 complex member HPS1 isoform 2
NM_001362410.1 NP_001349339.1 BLOC-3 complex member HPS1 isoform 3
NM_019424.3 NP_062297.1 BLOC-3 complex member HPS1 isoform 1

Gene Ontology

  • Biological Process
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 cell morphogenesis IGI
IGI: Inferred from genetic interaction
12777251 MGI
acts upstream of or within eye pigmentation IMP
IMP: Inferred from mutant phenotype
21052544 MGI
acts upstream of or within negative effect gene expression IMP
IMP: Inferred from mutant phenotype
31272455 MGI
acts upstream of or within inflammatory response IGI
IGI: Inferred from genetic interaction
12777251 MGI
acts upstream of or within intracellular zinc ion homeostasis IMP
IMP: Inferred from mutant phenotype
30786955 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
acts upstream of or within lung development IGI
IGI: Inferred from genetic interaction
12777251 MGI
acts upstream of or within lung morphogenesis IGI
IGI: Inferred from genetic interaction
12777251 MGI
acts upstream of or within lysosome organization IMP
IMP: Inferred from mutant phenotype
30786955 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
acts upstream of or within pigmentation IMP
IMP: Inferred from mutant phenotype
2379821 MGI
acts upstream of or within positive regulation of natural killer cell activation IMP
IMP: Inferred from mutant phenotype
7089489 MGI
acts upstream of or within protein secretion IMP
IMP: Inferred from mutant phenotype
29074498 MGI
acts upstream of or within respiratory system process IGI
IGI: Inferred from genetic interaction
12777251 MGI
acts upstream of or within retina development in camera-type eye IMP
IMP: Inferred from mutant phenotype
21052544 MGI
acts upstream of or within secretion of lysosomal enzymes IMP
IMP: Inferred from mutant phenotype
7089489 MGI
acts upstream of or within single fertilization IMP
IMP: Inferred from mutant phenotype
30786955 MGI
acts upstream of or within spermatogenesis IMP
IMP: Inferred from mutant phenotype
30786955 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 HPS1

Hermansky-Pudlak syndrome 1 protein homolog

  • Hermansky-Pudlak syndrome 1 homolog

  • Hermansky-Pudlak syndrome protein homolog

  • hermansky-Pudlak syndrome 1 protein homolog

  • pale ear

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06345 HPS1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18946 Hps1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25436 Hps1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Hps1 NCBI NCBI:3257