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Gene : SNAPIN Homo sapiens

Name  ? SNAP associated protein Cytological Location  1q21.3
Brief Description  SNAP associated protein
description  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]
  • synonyms:
  • SNAPIN,
  • NM_012437,
  • snapin,
  • AF086837,
  • BORCS3,
  • SNAPAP,
  • HGNC:17145,
  • biogenesis of lysosomal organelles complex-1, subunit 7,
  • BORCS3,
  • SNAPAP,
  • SNAP-25-binding protein,
  • OTTHUMG00000037086,
  • BLOC1S7,
  • SNAP-associated protein,
  • uc001fcq.5,
  • BLOC1S7,
  • BLOS7
  • identifiers:
  • 23557,
  • ENSG00000143553,
  • SNAPIN

Genome feature

Region: gene ? Length: 3199  
Location: 1:153658654-153661852 Cyto location: 1q21.3


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Disease

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Expression

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Other

301 SN Ps

5 Cross References

15 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results