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].

SNAP associated proteinMIM:607007Ensembl:ENSG00000143553HGNC:HGNC:17145PA1624040121q21.3

GO terms in SNAPIN

Term TypeEvidence TypeGO Term IDGO Des.
BPIEAGO:0006886intracellular protein transport
BPIEAGO:0007042lysosomal lumen acidification
BPTASGO:0007269neurotransmitter secretion
BPISSGO:0008089anterograde axonal transport
BPIEAGO:0008090retrograde axonal transport
BPIGIGO:0008333endosome to lysosome transport
BPIEAGO:0010977negative regulation of neuron projection development
BPIEAGO:0016032viral process
BPIDAGO:0016079synaptic vesicle exocytosis
BPIEAGO:0016188synaptic vesicle maturation
BPISSGO:0031175neuron projection development
BPIEAGO:0031629synaptic vesicle fusion to presynaptic active zone membrane
BPIMPGO:0032418lysosome localization
BPNASGO:0032438melanosome organization
BPIEAGO:0034629cellular protein-containing complex localization
BPIMPGO:0043393regulation of protein binding
BPIMPGO:0048489synaptic vesicle transport
BPISSGO:0048490anterograde synaptic vesicle transport
BPIEAGO:0051604protein maturation
BPIEAGO:0072553terminal button organization
BPIEAGO:0097352autophagosome maturation
BPIEAGO:1902774late endosome to lysosome transport
BPTASGO:1902824positive regulation of late endosome to lysosome transport
CCIEAGO:0000139Golgi membrane
CCIEAGO:0005765lysosomal membrane
CCIDAGO:0008021synaptic vesicle
CCIEAGO:0030054cell junction
CCISSGO:0030141secretory granule
CCIEAGO:0030672synaptic vesicle membrane
CCIDAGO:0031083BLOC-1 complex
CCIDAGO:0048471perinuclear region of cytoplasm
CCIDAGO:0099078BORC complex
CCIEAGO:1904115axon cytoplasm
MFIDAGO:0000149SNARE binding
MFIPIGO:0005515protein binding

Gene expression in normal tissue: SNAPIN

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SNAPIN

DatabasePathway IDPathway Des.
reactomeR-HSA-199991Membrane Trafficking
reactomeR-HSA-199992trans-Golgi Network Vesicle Budding
reactomeR-HSA-421837Clathrin derived vesicle budding
reactomeR-HSA-432722Golgi Associated Vesicle Biogenesis
reactomeR-HSA-5653656Vesicle-mediated transport

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SNAPIN