AlphaFold predicted structure
UPF3B · Q9BZI7
Mean pLDDT
65.8/ 100
Low
483 residues
Confidence breakdown
- Very high(≥ 90)18%
- Confident(70–90)36%
- Low(50–70)11%
- Very low(< 50)35%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
UPF3B
Chr Xq24UPF3B regulator of nonsense mediated mRNA decay
- Aliases:
- RENT3B, UPF3X, HUPF3B, MRX82
- MANE:
- ENST00000276201.7
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIntellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesFetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Disease associations (Open Targets)
X-linked intellectual disability with marfanoid habitus
0.71hereditary disease
0.49non-syndromic X-linked intellectual disability
0.37X-linked non-syndromic intellectual disability
0.37X-linked complex neurodevelopmental disorder
0.37neurodevelopmental disorder
0.32neurodegenerative disease
0.31Intellectual disability
0.30microcephaly
0.12Severe global developmental delay
0.12
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Regulator of nonsense transcripts 3B
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