SNAPIN, Official Symbol SNAPINprovided by HGNC Official Full Name SNAP associated proteinprovided by HGNC Primary source HGNC:HGNC:17145 See related Ensembl:ENSG00000143553 MIM:607007; AllianceGenome:HGNC:17145 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 BLOS7; BORCS3; SNAPAP; BLOC1S7 Summary The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in fat (RPKM 19.5), heart (RPKM 18.9) and 25 other tissues See more Orthologs mouse all