Homo sapiens Gene: SNAPIN
Summary
InnateDB Gene IDBG-102759.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SNAPIN
Gene Name SNAP-associated protein
Synonyms BLOC1S7; BLOS7; SNAPAP;
Species Homo sapiens
Ensembl Gene ENSG00000143553
Encoded Proteins
SNAP-associated protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:153658654-153661830
Strand Forward strand
Band q21.3
Transcripts
ENST00000368685 ENSP00000357674
ENST00000474959
ENST00000462880
ENST00000478558
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
Experimentally validated
Total 50 [view]
Protein-Protein 50 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000149 SNARE binding
GO:0005515 protein binding
Biological Process
GO:0006886 intracellular protein transport
GO:0007268 synaptic transmission
GO:0007269 neurotransmitter secretion
GO:0008089 anterograde axon cargo 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 membrane
GO:0032438 melanosome organization
GO:0043393 regulation of protein binding
GO:0048489 synaptic vesicle transport
GO:0048490 anterograde synaptic vesicle transport
GO:0072553 terminal button organization
GO:1902824 positive regulation of late endosome to lysosome transport
Cellular Component
GO:0000139 Golgi membrane
GO:0005730 nucleolus
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0008021 synaptic vesicle
GO:0030054 cell junction
GO:0030133 transport vesicle
GO:0030141 secretory granule
GO:0030659 cytoplasmic vesicle membrane
GO:0030672 synaptic vesicle membrane
GO:0031083 BLOC-1 complex
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
trans-Golgi Network Vesicle Budding pathway
Clathrin derived vesicle budding pathway
Golgi Associated Vesicle Biogenesis pathway
Membrane Trafficking pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_012437
HUGO
OMIM
CCDS CCDS1049
HPRD 06111
IMGT
EMBL
GenPept
RNA Seq Atlas