UPF1

Description

The UPF1 (UPF1 RNA helicase and ATPase) is a protein-coding gene located on chromosome 19.

UPF1 is a protein encoded by the UPF1 gene in humans. It is part of a multiprotein complex called the exon junction complex, which is involved in mRNA nuclear export and surveillance. This complex detects mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). NMD degrades mRNAs containing premature stop codons. UPF1 is found in both the cytoplasm and nucleus of the cell. It interacts with other proteins to trigger mRNA decapping. This gene can use multiple polyadenylation sites.

UPF1 is an RNA-dependent helicase essential for nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. It also modulates the expression of normal mRNAs. Following translation termination, UPF1 is recruited to mRNAs and undergoes phosphorylation, which is a key step in NMD. It forms a transient complex, SURF, with SMG1, eRF1, and eRF3. In EJC-dependent NMD, SURF interacts with the exon junction complex (EJC) via UPF2, leading to the formation of the UPF1-UPF2-UPF3 surveillance complex. Phosphorylated UPF1 is recognized by EST1B/SMG5, SMG6, and SMG7, linking it to the mRNA degradation machinery. These factors also act as adapters for protein phosphatase 2A (PP2A), triggering UPF1 dephosphorylation and recycling NMD factors. UPF1 can also activate NMD independently of UPF2 and UPF3. It plays a role in histone mRNA degradation and interacts with PABPC1 to recognize premature termination codons. UPF1's ATPase activity is crucial for the disassembly of mRNPs undergoing NMD. Together with UPF2, it degrades mRNAs with long 3'UTRs. UPF1 can unwind double-stranded DNA and translocate on single-stranded DNA.

UPF1 is also known as HUPF1, NORF1, RENT1, UTF, pNORF1, smg-2.

Associated Diseases

WES Whole Exome Sequencing