Aliases for HPS1 Gene
External Ids for HPS1 Gene
Previous HGNC Symbols for HPS1 Gene
Previous GeneCards Identifiers for HPS1 Gene
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]
GeneCards Summary for HPS1 Gene
HPS1 (HPS1 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1) is a Protein Coding gene. Diseases associated with HPS1 include Hermansky-Pudlak Syndrome 1 and Hermansky-Pudlak Syndrome With Pulmonary Fibrosis. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include protein dimerization activity.
UniProtKB/Swiss-Prot Summary for HPS1 Gene
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).