SNAPIN

GENE INFORMATION

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Gene name

SNAPIN (HGNC Symbol)

Synonyms

BLOC1S7, SNAPAP

Description

SNAP-associated protein (HGNC Symbol)

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]

Chromosome

1

Cytoband

q21.3

Chromosome location (bp)

153658654 - 153661830

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000143553 (version 78.38)

Entrez gene

23557

UniProt

O95295 (UniProt - Evidence at protein level)

neXtProt

NX_O95295

Antibodypedia

SNAPIN antibodies
 

PROTEIN VIEW

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SNAPIN-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SNAPIN-001 ENSP00000357674
ENST00000368685
O95295
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