InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-102761

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

ENSMUSG00000001018

View Gene Order

ENSBTAG00000012470

Not yet available

Pathways

NETPATH

REACTOME

REACT_19400

Golgi Associated Vesicle Biogenesis pathway

REACT_19187

Clathrin derived vesicle budding pathway

REACT_11235

trans-Golgi Network Vesicle Budding pathway

REACT_11123

Membrane Trafficking pathway

KEGG

INOH

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