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  2. Hps3 - HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 Gene

Hps3 - HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 Gene

Mus musculus

Also known as coa

Gene ID: 12807 | Gene type: protein coding

About Hps3

Summary

Acts upstream of or within organelle organization and pigmentation. Located in cytoplasm. Used to study Hermansky-Pudlak syndrome 3 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 3. Orthologous to human HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1). [provided by Alliance of Genome Resources, Apr 2022]

Hps3 Products(11)

mRNA Protein Name
NM_001146323.1 NP_001139795.1 BLOC-2 complex member HPS3 isoform 2
NM_001146324.2 NP_001139796.1 BLOC-2 complex member HPS3 isoform 3
NM_001409878.1 NP_001396807.1 BLOC-2 complex member HPS3 isoform 4
NM_001409879.1 NP_001396808.1 BLOC-2 complex member HPS3 isoform 5
NM_001409880.1 NP_001396809.1 BLOC-2 complex member HPS3 isoform 6
NM_001409881.1 NP_001396810.1 BLOC-2 complex member HPS3 isoform 7
NM_001409882.1 NP_001396811.1 BLOC-2 complex member HPS3 isoform 8
NM_001409883.1 NP_001396812.1 BLOC-2 complex member HPS3 isoform 9
NM_001409884.1 NP_001396813.1 BLOC-2 complex member HPS3 isoform 10
NM_001409885.1 NP_001396814.1 BLOC-2 complex member HPS3 isoform 11
NM_080634.4 NP_542365.3 BLOC-2 complex member HPS3 isoform 1
Gene Ontology
  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within organelle organization IMP
IMP: Inferred from mutant phenotype
11707070 MGI
acts upstream of or within pigmentation IMP
IMP: Inferred from mutant phenotype
2379821 MGI
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
11707070 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 HPS3

Hermansky-Pudlak syndrome 3 protein homolog

Hermansky-Pudlak syndrome 3 homolog

cocoa protein

hermansky-Pudlak syndrome 3 protein homolog

Orthologs Information

Species Symbol Source ID
Homo sapiens Hps3 NCBI NCBI:84343