DISEASES

Disease-gene associations mined from literature

Literature associating UPF3A and retinitis pigmentosa 51

UPF3A [ENSP00000364448]

Regulator of nonsense transcripts 3A; 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; Belongs to the RENT3 family.

Synonyms:  UPF3A,  UPF3Ap,  hUPF3A,  A0A087WZ33,  Q9H1J1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM