Gene: UPF3A
Alternate names for this Gene: HUPF3A|RENT3A|UPF3
Gene 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 13. Several splice variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 13
Location in Chromosome : 13q34
Description of this Gene: UPF3A regulator of nonsense mediated mRNA decay
Type of Gene: protein-coding
rs112998813 in
UPF3A gene and
Nodular Sclerosis Classical Hodgkin Lymphoma
PMID 29196614 2017 We identify risk loci for all classical Hodgkin lymphoma at 6q22.33 (rs9482849, P = 1.52 × 10<sup>-8</sup>) and for nodular sclerosis Hodgkin lymphoma at 3q28 (rs4459895, P = 9.43 × 10<sup>-17</sup>), 6q23.3 (rs6928977, P = 4.62 × 10<sup>-11</sup>), 10p14 (rs3781093, P = 9.49 × 10<sup>-13</sup>), 13q34 (rs112998813, P = 4.58 × 10<sup>-8</sup>) and 16p13.13 (rs34972832, P = 2.12 × 10<sup>-8</sup>).