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Bujnicki Lab Homepage

NMD in Homo sapiens

Nonsense-mediated decay

Proteins:
5'-3' exoribonuclease 1
Polyadenylate-binding protein 2
Protein SMG5
Protein SMG7
Regulator of nonsense transcripts 1
Regulator of nonsense transcripts 2
Regulator of nonsense transcripts 3B
Scavenger mRNA-decapping enzyme DcpS
Serine/threonine-protein kinase SMG1
Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform
Telomerase-binding protein EST1A
Enzymatic
complexes:
Cap-binding complex
DCP1-DCP2 decapping complex
Exon-exon junction complex: core with outer shell
Exosome
Ribosome
SMG1C protein kinase complex
SURF complex

NMD in REACTOME: REACT_75886



Nonsense-mediated mRNA decay (NMD) protects many heterozygous carriers of defective genes that encode pre-mature termination codons (PTCs) from manifesting dominantly inherited disorders that would result if the encoded truncated proteins were expressed (PMID: 20795950, 21550797). It is very important for cells to remove PTC-containing mRNAs, whether they are somatically acquired or genetically inherited, because the encoded truncated proteins have the potential to manifest dominant-negative or gain-of-function activities. Thus, NMD plays a key protective role in a long list of human diseases that are due to frameshift or nonsense mutations and result in the premature termination of mRNA translation, including β0-thalassemia, cystic fibrosis, Duchenne muscular dystrophy and a number of cancers that involve PTCs within, for example, BRCA1 or WT1 tumor suppressor mRNAs (PMID: 20795950, 21550797).

In human the SMG5-SMG7 mediated NMD leads to deadenylation and/or decapping followed, repectively, by exosome-mediated 3'-to-5' and XRN1-mediated 5'-to-3' exonuclolytic activities. (PMID: 21550797)




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Last modification of this entry: 2012-07-18 13:45:44
Edited by a user: kaja
Edited content: Changed reactions and publications.

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