HPS3
Gene Information
- Official Symbol: HPS3
- Official Name: HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 84343
- UniProt: Q969F9
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015].
- UniProt Summary: Involved in early stages of melanosome biogenesis and maturation. {ECO:0000250|UniProtKB:Q91VB4}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 12679
- Expression level (log2 read counts): 5.18