HPS6
Gene Information
- Official Symbol: HPS6
- Official Name: HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
- Aliases and Previous Symbols: N/A
- Entrez ID: 79803
- UniProt: Q86YV9
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This intronless 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 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [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 (PubMed:17041891). Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning (PubMed:25189619). {ECO:0000269|PubMed:17041891, ECO:0000269|PubMed:25189619}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 12061
- Expression level (log2 read counts): 4.74
HPS6 Expression in NALM6 Cells: 4.74
