SpliceAtlasDB
← 返回基因注释查询

🧬 基因注释:SNAPIN

📝 官方信息

官方名称:SNAP associated protein

功能摘要: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].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.474 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • PRPF8 综合评分: 0.298 · 证据 1 条
  • ELAVL3 综合评分: 0.286 · 证据 1 条
  • RBM10 综合评分: 0.250 · 证据 2 条
  • Mbnl2 综合评分: 0.200 · 证据 1 条
  • UPF1 综合评分: 0.198 · 证据 1 条
  • U2af2 综合评分: 0.162 · 证据 1 条
  • CPSF6 综合评分: 0.150 · 证据 2 条
  • Srsf2 综合评分: 0.150 · 证据 1 条
  • Srsf3 综合评分: 0.150 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • CSTF2T 综合评分: 0.100 · 证据 2 条
  • NXF1 综合评分: 0.100 · 证据 1 条
  • Rbm7 综合评分: 0.100 · 证据 1 条
  • Rbmx 综合评分: 0.100 · 证据 1 条
  • Rbpms 综合评分: 0.100 · 证据 1 条
  • Rnps1 综合评分: 0.100 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

🔗 外部数据库链接