Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: Hps1 (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1) Mus musculus
Symbol: Hps1
Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
RGD ID: 69205
Description: Predicted to contribute to guanyl-nucleotide exchange factor activity. Involved in several processes, including cellular zinc ion homeostasis; positive regulation of natural killer cell activation; and secretion of lysosomal enzymes. Predicted to localize to BLOC-3 complex and cytoplasmic vesicle. 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); INTERACTS WITH 1,2-dichloroethane; 1,2-dimethylhydrazine; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 6030422N11Rik; BB405864; ep; Gm21361; Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 1 homolog; Hermansky-Pudlak syndrome 1 protein homolog; Hermansky-Pudlak syndrome protein homolog; Hps; MGC102063; pale ear; predicted gene, 21361
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm391942,743,629 - 42,770,013 (-)NCBI
GRCm381942,755,190 - 42,780,015 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1942,755,105 - 42,779,978 (-)EnsemblGRCm38mm10GRCm38
MGSCv371942,829,686 - 42,854,466 (-)NCBIGRCm37mm9NCBIm37
MGSCv361942,806,145 - 42,831,956 (-)NCBImm8
Celera1943,550,308 - 43,575,036 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1936.56NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status



Nucleotide Sequences
Protein Sequences

Additional Information

External Database Links
Nomenclature History
More on Hps1
Alliance Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 69205
Created: 2001-11-13
Species: Mus musculus
Last Modified: 2020-10-13
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.