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  • 發布時間:2022-08-04 17:20 原文鏈接: UPF1基因突變因子與藥物介紹

    該基因編碼一種蛋白質,是參與mRNA核輸出和mRNA監測的剪接后多蛋白復合物的一部分信使核糖核酸監測檢測具有截短開放閱讀框的輸出信使核糖核酸,并啟動無義介導的信使核糖核酸衰變(nmd)。當翻譯從最后一個外顯子-外顯子連接處上游結束時,這會觸發NMD降解含有過早終止密碼子的mrna這種蛋白質只存在于細胞質中當翻譯結束時,它與酵母upf2p的功能同系物蛋白質相互作用,觸發mrna的去切。該基因使用了多個聚腺苷酸化位點選擇性剪接導致多個轉錄變體[由RefSeq提供,2014年7月]
    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]

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