Aliases for HPS1 Gene
External Ids for HPS1 Gene
Previous Symbols 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. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]
GeneCards Summary for HPS1 Gene
HPS1 (Hermansky-Pudlak Syndrome 1) is a Protein Coding gene. Diseases associated with HPS1 include hermansky-pudlak syndrome 1 and hermansky-pudlak syndrome with pulmonary fibrosis. GO annotations related to this gene include protein dimerization activity.
UniProtKB/Swiss-Prot for HPS1 Gene
Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting