UPF3A

Chr 13

UPF3A regulator of nonsense mediated mRNA decay

Also known as: HUPF3A, RENT3A, UPF3

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 13. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
0.94
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.94LOEUF
pLI 0.000
Z-score 1.76
OE 0.59 (0.390.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.60Z-score
OE missense 1.11 (1.001.22)
275 obs / 248.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.59 (0.390.94)
00.351.4
Missense OE?1.11 (1.001.22)
00.61.4
Synonymous OE?1.39
01.21.6
LoF obs/exp: 13 / 21.9Missense obs/exp: 275 / 248.2Syn Z: -2.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UPF3A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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