DISEASES

Disease-gene associations mined from literature

Literature associating UPF3B and FG syndrome

UPF3B [ENSP00000276201]

UPF3 regulator of nonsense transcripts homolog B (yeast); 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; X-linked mental retardation

Synonyms:  UPF3B,  UPF3Bp,  hUPF3B,  I3XIE4,  Q9BZI7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM