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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
UPF3A - UPF3A Regulator Of Nonsense Mediated MRNA Decay
Alias:
UPF3
HUPF3A
RENT3A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是后剪接多蛋白复合体的一部分,参与mRNA的核输出和mRNA监控。这个编码的蛋白质是酵母Upf3p的两个功能性同源物之一。mRNA监控检测具有截断开放阅读框的已输出mRNA,并开始无义介导的mRNA衰变(NMD)。当翻译在上一个外显子-外显子连接处上游结束时,这触发NMD以降解含有提前终止密码子的mRNA。这个蛋白质与mRNA结合并在核输出后保持结合,作为核质穿梭蛋白质发挥作用。它与Y14形成复合物,特异性地结合外显子-外显子连接处上游20nt。这个基因位于染色体13的长期臂上。已经发现这个基因的几个剪接变异体,编码不同的异构体。[由RefSeq,2017年7月提供]
Related ID:
NCBI:65110
ENSEMBL:ENSG00000169062
HGNC:20332
UNIPROT:Q9H1J1
OMIM:605530
Basic Information
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Transcripts
Exons
Length
MW (kDa)
Mutations
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65110
21
10
24217 bp
54.70
29
--
5
10
UPF3A Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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