HPS1
Gene Information
- Official Symbol: HPS1
- Official Name: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 3257
- UniProt: Q92902
- 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. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015].
- UniProt Summary: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991). {ECO:0000269|PubMed:23084991}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 11907
- Expression level (log2 read counts): 4.99
HPS1 Expression in NALM6 Cells: 4.99
