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MIRAGE
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Summary
- Gene Symbol
-
- HPS5
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cytoplasm
- Disease variant
- Hermansky-Pudlak syndrome
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9UPZ3 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| blood coagulation | ||
| intracellular transport | ||
| developmental pigmentation | ||
| platelet dense granule organization | ||
| melanosome assembly |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoplasm | ||
| early endosome | ||
| cytosol | ||
| BLOC-2 complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- hermansky-pudlak syndrome 5 protein
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| developmental pigmentation |
| InterPro |
|---|
| BLOC-2 complex member HPS5 |
| WD40-repeat-containing domain superfamily |
| WD40/YVTN repeat-like-containing domain superfamily |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060543 | Hermansky-Pudlak syndrome 5 | |
| DOID:3753 | Hermansky-Pudlak syndrome |
