Predicted to enable SNARE binding activity. Involved in endosomal transport and positive regulation of intracellular protein transport. Predicted to be located in synaptic vesicle. Predicted to be part of BLOC-1 complex and BORC complex. Used to study Hermansky-Pudlak syndrome. Is an ortholog of human SNAPIN (SNAP associated protein).
Defective formation of lysosome-related organelles (LROs) underlies the human disease Hermansky-Pudlak syndrome (HPS); the nine genes currently implicated in causing HPS encode subunits of the AP-3, BLOC-1, BLOC-2, or BLOC-3 complexes; BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules; C. elegans glo-2 and snpn-1 encode Pallidin and Snapin, which are BLOC-1 subunit homologs, respectively; studies in elegans show that snpn-1 and glo-2 function in trafficking to, and biogenesis of gut granules (gut granules are intestinal cell-specific LROs); snpn-1, but not glo-2 interacts with dsbn-1, which is similar to human dysbindin (DTNBP1), a mammalian BLOC-1 subunit; this system provides an in vivo model to study the genetics and interactions of BLOC1 subunits.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.