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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
🏥 关联疾病
Global developmental delay
(0.426)
High anterior hairline
(0.425)
Hypertelorism
(0.425)
Frontal bossing
(0.425)
complex neurodevelopmental disorder
(0.370)
🔍 查看该基因的所有关联疾病
🔗 外部数据库链接