SMG5
Description
The SMG5 (SMG5 nonsense mediated mRNA decay factor) is a protein-coding gene located on chromosome 1.
SMG5 is a protein encoded by the SMG5 gene in humans. It contains a PIN domain that has undergone mutations in its active site.
SMG5 plays a critical role in nonsense-mediated mRNA decay (NMD), a cellular surveillance pathway that eliminates aberrant mRNAs containing premature stop codons. While SMG5 itself lacks RNase activity, it promotes the dephosphorylation of UPF1, a key NMD factor. This dephosphorylation is facilitated by SMG5's interaction with SMG7, which acts as an adapter linking UPF1 to protein phosphatase 2A (PP2A). This interaction triggers the dephosphorylation of UPF1, ultimately leading to the degradation of the faulty mRNA. Notably, SMG5 is also essential for the activity of telomerase, an enzyme responsible for maintaining the ends of chromosomes.
SMG5 is also known as EST1B, LPTS-RP1, LPTSRP1, SMG-5.
Associated Diseases
- endometrial cancer
- syndactyly type 4
- syndactyly type 5
- mesoaxial synostotic syndactyly with phalangeal reduction
