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. 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.