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🧬 基因注释:TCIRG1

📝 官方信息

官方名称:T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

功能摘要:This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017].

🎯 作为靶基因的剪接因子
  • HNRNPM 综合评分: 0.448 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • HNRNPK 综合评分: 0.362 · 证据 2 条
  • PTBP1 综合评分: 0.362 · 证据 2 条
  • SRSF9 综合评分: 0.362 · 证据 1 条
  • Srsf3 综合评分: 0.362 · 证据 1 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPH1 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • QKI 综合评分: 0.350 · 证据 1 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • PCBP2 综合评分: 0.262 · 证据 1 条
  • PRPF8 综合评分: 0.262 · 证据 1 条
  • U2af2 综合评分: 0.260 · 证据 1 条
  • RBM10 综合评分: 0.250 · 证据 2 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • RBM39 综合评分: 0.250 · 证据 2 条
  • TIA1 综合评分: 0.250 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

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