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🧬 基因注释:ATP6V1C2

📝 官方信息

官方名称:ATPase H+ transporting V1 subunit C2

功能摘要:This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • HNRNPA1 综合评分: 0.412 · 证据 2 条
  • HNRNPC 综合评分: 0.350 · 证据 2 条
  • HNRNPM 综合评分: 0.350 · 证据 2 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • U2af1 综合评分: 0.212 · 证据 1 条
  • PRPF8 综合评分: 0.200 · 证据 1 条
  • Srsf1 综合评分: 0.150 · 证据 1 条
  • Tardbp 综合评分: 0.150 · 证据 1 条
  • CPSF1 综合评分: 0.100 · 证据 1 条
  • HNRNPUL1 综合评分: 0.100 · 证据 1 条
  • Rbmx 综合评分: 0.100 · 证据 1 条
  • Rnps1 综合评分: 0.100 · 证据 1 条
  • U2af2 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

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