Human Gene SNAPIN (uc001fcq.4) Description and Page Index
Description: Homo sapiens SNAP-associated protein (SNAPIN), transcript variant 1, mRNA. RefSeq Summary (NM_012437): 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]. Transcript (Including UTRs) Position: hg19 chr1:153,631,130-153,634,328 Size: 3,199 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr1:153,631,220-153,633,777 Size: 2,558 Coding Exon Count: 4
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.