SNAPIN

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]

Description

SNAP associated protein

Tissue specificity

Low tissue specificity

Subcell location

Nucleoli, Golgi apparatus

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

1 (153658703 - 153661852)

Ensembl ID

ENSG00000143553  (ver. 103.38)

Orthologs

Mouse Snapin: ENSMUSG00000001018

UniProt

O95295

neXtProt

NX_O95295

Human splice variants
Mouse splice variants

Protein structure