菜单 基因医生

该基因编码一种蛋白质,是参与mRNA核输出和mRNA监测的剪接后多蛋白复合物的一部分信使核糖核酸监测检测具有截短开放阅读框的输出信使核糖核酸,并启动无义介导的信使核糖核酸衰变(nmd)。当翻译从最后一个外显子-外显子连接处上游结束时,这会触发NMD降解含有过早终止密码子的mrna这种蛋白质只存在于细胞质中当翻译结束时,它与酵母upf2p的功能同系物蛋白质相互作用,触发mrna的去切。该基因使用了多个聚腺苷酸化位点选择性剪接导致多个转录变体[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]

基因名:UPF1
别名:HUPF1,NORF1,RENT1,smg-2,pNORF1
基因ID:5976
Chromosome:
(GRCh37)
19 Start: 18942744 End: 18979039 Strand: 
信号通路:  
UPF1 基因突变与药物