Summary: 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].

UPF3B, regulator of nonsense mediated mRNA decayMIM:300298Ensembl:ENSG00000125351HGNC:HGNC:20439PA128394708Xq24

Gene Categories:


GO terms in UPF3B

Term TypeEvidence TypeGO Term IDGO Des.
MFHDAGO:0003723RNA binding
MFIBAGO:0003729mRNA binding
MFIDAGO:0003729mRNA binding
MFIPIGO:0005515protein binding
MFNASGO:0017056structural constituent of nuclear pore
CCIDAGO:0005815microtubule organizing center
CCIDAGO:0035145exon-exon junction complex
CCIDAGO:0035145exon-exon junction complex
BPIBAGO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
BPIDAGO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
BPIMPGO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
BPNASGO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
BPTASGO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
BPTASGO:0000398mRNA splicing, via spliceosome
BPTASGO:0006405RNA export from nucleus
BPTASGO:0006406mRNA export from nucleus
BPTASGO:0031124mRNA 3'-end processing
BPIBAGO:0045727positive regulation of translation
BPIDAGO:0045727positive regulation of translation

Gene expression in normal tissue: UPF3B

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in UPF3B

DatabasePathway IDPathway Des.
reactomeR-HSA-109688Cleavage of Growing Transcript in the Termination Region
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-159236Transport of Mature mRNA derived from an Intron-Containing Transcript
reactomeR-HSA-376176Signaling by ROBO receptors
reactomeR-HSA-422475Axon guidance
reactomeR-HSA-72163mRNA Splicing - Major Pathway
reactomeR-HSA-72172mRNA Splicing
reactomeR-HSA-72187mRNA 3'-end processing
reactomeR-HSA-72202Transport of Mature Transcript to Cytoplasm
reactomeR-HSA-72203Processing of Capped Intron-Containing Pre-mRNA
reactomeR-HSA-73856RNA Polymerase II Transcription Termination
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-8953854Metabolism of RNA
reactomeR-HSA-9010553Regulation of expression of SLITs and ROBOs
reactomeR-HSA-927802Nonsense-Mediated Decay (NMD)
reactomeR-HSA-975957Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
kegghsa03013RNA transport - Homo sapiens (human)
kegghsa03015mRNA surveillance pathway - Homo sapiens (human)

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in UPF3B