Aliases for UPF3A Gene
External Ids for UPF3A Gene
Previous GeneCards Identifiers for UPF3A Gene
This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
GeneCards Summary for UPF3A Gene
UPF3A (UPF3A Regulator Of Nonsense Mediated MRNA Decay) is a Protein Coding gene. Diseases associated with UPF3A include Retinitis Pigmentosa 51 and Pancreatic Adenosquamous Carcinoma. Among its related pathways are Gene Expression and mRNA surveillance pathway. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is UPF3B.
UniProtKB/Swiss-Prot Summary for UPF3A Gene
Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. However, UPF3A is shown to be only marginally active in NMD as compared to UPF3B. Binds spliced mRNA upstream of exon-exon junctions. In vitro, weakly stimulates translation.