Aliases for UPF3B Gene
External Ids for UPF3B Gene
Previous HGNC Symbols for UPF3B Gene
Previous GeneCards Identifiers for UPF3B 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 X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for UPF3B Gene
UPF3B (UPF3 Regulator Of Nonsense Transcripts Homolog B (Yeast)) is a Protein Coding gene. Diseases associated with UPF3B include non-syndromic x-linked intellectual disability and schizophrenia. Among its related pathways are Gene Expression and RNA transport. GO annotations related to this gene include nucleotide binding and nucleocytoplasmic transporter activity. An important paralog of this gene is UPF3A.
UniProtKB/Swiss-Prot for UPF3B 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. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon-exon junctions. In vitro, stimulates translation; the function is independent of association with UPF2 and components of the EJC core.