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This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. 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 binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的蛋白是一个剪接后多蛋白复合物参与了mRNA的核出口和mRNA监督工作的一部分。所编码的蛋白质是二功能同系物对酵母Upf3p之一。基因检测监控与出口截断开放阅读框的mRNA,并启动无义介导的mRNA降解(NMD)。当翻译从上个外显子 - 外显子路口结束的上游,这将触发NMD降解含有提前终止密码子的mRNA。该蛋白结合的mRNA和核出口后仍然绑定,作为一个核质穿梭蛋白。它与Y14形成了核苷酸上游特异性结合20外显子 - 外显子连接处的复合物。该基因位于染色体的长臂编码不同同种型13两剪接变体已被发现对这种基因。 [由RefSeq的,2008年7月提供]
UPF3A基因(以及对应的蛋白质)的细胞分布位置:
UPF3A基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Amyotrophic Lateral Sclerosis | 0.002367032 | 1 | 1 | GAD |
Neurologic Symptoms | 0.000271442 | 1 | 0 | BeFree |
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