ID:SNAPN_HUMAN DESCRIPTION: RecName: Full=SNARE-associated protein Snapin; AltName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 7; Short=BLOC-1 subunit 7; AltName: Full=Synaptosomal-associated protein 25-binding protein; Short=SNAP-associated protein; FUNCTION: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. May modulate a step between vesicle priming, fusion and calcium-dependent neurotransmitter release through its ability to potentiate the interaction of synaptotagmin with the SNAREs and the plasma-membrane-associated protein SNAP25. Its phosphorylation state influences exocytotic protein interactions and may regulate synaptic vesicle exocytosis. May also have a role in the mechanisms of SNARE-mediated membrane fusion in non-neuronal cells. SUBUNIT: Interacts with CSNK1D, SNAP23 and STX4A but not with STX1A, VAMP2 and SYT1. Interacts with SNAP25; the interaction with SNAP25 is increased by its phosphorylation (By similarity). Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Associates with the SNARE complex. Interacts with CEP110, NANOS1, PUM2 and RGS7. Interacts with human cytomegalovirus/HHV-5 protein UL70. INTERACTION: Q6QNY1:BLOC1S2; NbExp=7; IntAct=EBI-296723, EBI-465872; Q96EV8:DTNBP1; NbExp=4; IntAct=EBI-296723, EBI-465804; O75923:DYSF; NbExp=3; IntAct=EBI-296723, EBI-2799016; Q9UL45:PLDN; NbExp=2; IntAct=EBI-296723, EBI-465781; Q15849-1:SLC14A2; NbExp=5; IntAct=EBI-296723, EBI-1633392; Q62668-1:Slc14a2 (xeno); NbExp=6; IntAct=EBI-296723, EBI-1635608; P11277:SPTB; NbExp=3; IntAct=EBI-296723, EBI-514908; SUBCELLULAR LOCATION: Cytoplasm (By similarity). Membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side (Potential). Cell junction, synapse, synaptosome. Cytoplasm, perinuclear region. Golgi apparatus membrane (By similarity). Note=May be cytoplasmic and peripheral membrane bound or anchored to the vesicular membrane through an N-terminal signal anchor (By similarity). Co-localizes with NANOS1 and PUM2 in the perinuclear region of germ cells. TISSUE SPECIFICITY: Expressed in male germ cells of adult testis (at protein level). DEVELOPMENTAL STAGE: Expressed in germ cells of 22-week prenatal testis. PTM: Phosphorylated by CSNK1D/CK1 (By similarity). SIMILARITY: Belongs to the SNAPIN family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95295
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006886 intracellular protein transport GO:0006887 exocytosis GO:0007040 lysosome organization GO:0007042 lysosomal lumen acidification GO:0007268 chemical synaptic transmission GO:0007269 neurotransmitter secretion GO:0008089 anterograde axonal transport GO:0008090 retrograde axonal transport GO:0008333 endosome to lysosome transport GO:0010977 negative regulation of neuron projection development GO:0016032 viral process GO:0016079 synaptic vesicle exocytosis GO:0016188 synaptic vesicle maturation GO:0031175 neuron projection development GO:0031629 synaptic vesicle fusion to presynaptic active zone membrane GO:0032418 lysosome localization GO:0032438 melanosome organization GO:0034629 cellular protein complex localization GO:0043393 regulation of protein binding GO:0048489 synaptic vesicle transport GO:0048490 anterograde synaptic vesicle transport GO:0051604 protein maturation GO:0072553 terminal button organization GO:0097352 autophagosome maturation GO:1902774 late endosome to lysosome transport GO:1902824 positive regulation of late endosome to lysosome transport
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
