Hps3 - HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 Gene
Also Known as coa
Species: Mus musculus
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 |
| Biological Process GO Annotation | Evidence | References | 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 | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
11707070 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
BLOC-2 complex member HPS3 Hermansky-Pudlak syndrome 3 protein homolog |
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