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🧬 基因注释:UPF1

📝 官方信息

官方名称:UPF1 RNA helicase and ATPase

功能摘要:This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].

🎯 作为靶基因的剪接因子
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPK 综合评分: 0.398 · 证据 2 条
  • PTBP1 综合评分: 0.398 · 证据 2 条
  • Srsf3 综合评分: 0.362 · 证据 1 条
  • HNRNPC 综合评分: 0.350 · 证据 2 条
  • HNRNPH1 综合评分: 0.350 · 证据 2 条
  • HNRNPM 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
  • RBM10 综合评分: 0.312 · 证据 2 条
  • RBM15 综合评分: 0.312 · 证据 2 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • ELAVL3 综合评分: 0.306 · 证据 1 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • SRSF9 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
🏥 关联疾病
Global developmental delay
中关联 (0.426)
High anterior hairline
中关联 (0.425)
Hypertelorism
中关联 (0.425)
Frontal bossing
中关联 (0.425)
complex neurodevelopmental disorder
低关联 (0.370)
Thin upper lip vermilion
低关联 (0.340)
Strabismus
低关联 (0.340)
gastritis
低关联 (0.280)
Intellectual disability
低关联 (0.268)
neurodegenerative disease
低关联 (0.262)
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