SNAPIN

Also known as BLOC1S7, BLOS7, SNAPAP, BORCS3, SNAP associated protein

SNARE-associated protein Snapin is a protein that in humans is encoded by the SNAPIN gene.

Gene data

SNAPIN

Name: SNAP associated protein
Type: protein-coding
Position: 153,658,674–153,663,930 (+)
Aliases: BLOC1S7, BLOS7, BORCS3, NEDBAC, SNAPAP
Ensembl: ENSG00000143553
RefSeq RNA: NM_012437.6, NR_052019.1, NR_052020.1
RefSeq protein: NP_036569.1

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].