HPS5
Gene Information
- Official Symbol: HPS5
- Official Name: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
- Aliases and Previous Symbols: N/A
- Entrez ID: 11234
- UniProt: Q9UPZ3
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
- UniProt Summary: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. {ECO:0000269|PubMed:15296495, ECO:0000269|PubMed:17301833}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 4240
- Expression level (log2 read counts): 5.77
HPS5 Expression in NALM6 Cells: 5.77
