HPS1, Official Symbol HPS1provided by HGNC Official Full Name HPS1 biogenesis of lysosomal organelles complex 3 subunit 1provided by HGNC Primary source HGNC:HGNC:5163 See related Ensembl:ENSG00000107521 MIM:604982; AllianceGenome:HGNC:5163 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HPS; BLOC3S1 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] Expression Ubiquitous expression in spleen (RPKM 13.6), bone marrow (RPKM 13.3) and 25 other tissues See more Orthologs mouse all