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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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人类
UPF1 - UPF1 RNA Helicase And ATPase
Alias:
UTF
HUPF1
NORF1
RENT1
smg-2
pNORF1
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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。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。这种蛋白质仅位于细胞质中。当翻译结束时,它与其他蛋白质相互作用,这些蛋白质是酵母Upf2p的功能同源物,以触发mRNA的去帽。已注意到这个基因使用了多个polyA位点。可选剪接导致多个转录变异体。[由RefSeq,2014年7月提供]
Related ID:
NCBI:5976
ENSEMBL:ENSG00000005007
HGNC:9962
UNIPROT:Q92900
OMIM:601430
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5976
5
24
36272 bp
124.34
68
--
2
48
UPF1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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