UPF3A

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Regulator of nonsense transcripts 3A is a protein that in humans is encoded by the UPF3A gene.{{cite journal |vauthors=Serin G, Gersappe A, Black JD, Aronoff R, Maquat LE | title = Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4) | journal = Mol Cell Biol | volume = 21 | issue = 1 | pages = 209–23 |date=January 2001 | pmid = 11113196 | pmc = 88795 | doi = 10.1128/MCB.21.1.209-223.2001 }}{{cite journal |vauthors=Lykke-Andersen J, Shu MD, Steitz JA | title = Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon | journal = Cell | volume = 103 | issue = 7 | pages = 1121–31 |date=February 2001 | pmid = 11163187 | doi =10.1016/S0092-8674(00)00214-2 | s2cid = 18417600 | doi-access = free }}{{Cite web| title = Entrez Gene: UPF3A UPF3 regulator of nonsense transcripts homolog A (yeast)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=65110}}

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 complexes with RBM8A to bind specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms exist.

Interactions

UPF3A interacts with RBM8A,{{cite journal |last=Kim |first=V N |author2=Kataoka N |author3=Dreyfuss G |date=September 2001 |title=Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex |journal=Science |volume=293 |issue=5536 |pages=1832–6 | issn = 0036-8075| pmid = 11546873 |doi = 10.1126/science.1062829 | bibcode =2001Sci...293.1832K |s2cid=12018200 }} UPF2{{cite journal |doi=10.1016/S1097-2765(03)00349-6 |last=Lejeune |first=Fabrice |author2=Li Xiaojie |author3=Maquat Lynne E |date=September 2003 |title=Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities |journal=Mol. Cell |volume=12 |issue=3 |pages=675–87 | issn = 1097-2765| pmid = 14527413 |doi-access=free }} and UPF1.{{cite journal |last=Schell |first=Thomas |author2=Köcher Thomas |author3=Wilm Matthias |author4=Seraphin Bertrand |author5=Kulozik Andreas E |author6=Hentze Matthias W |date=August 2003 |title=Complexes between the nonsense-mediated mRNA decay pathway factor human upf1 (up-frameshift protein 1) and essential nonsense-mediated mRNA decay factors in HeLa cells |journal=Biochem. J. |volume=373 |issue=Pt 3 |pages=775–83 | issn = 0264-6021| pmid = 12723973 |doi = 10.1042/BJ20021920 |pmc=1223536 }}{{cite journal |last=Yamashita |first=A |author2=Ohnishi T |author3=Kashima I |author4=Taya Y |author5=Ohno S |date=September 2001 |title=Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay |journal=Genes Dev. |volume=15 |issue=17 |pages=2215–28 | issn = 0890-9369| pmid = 11544179 |doi = 10.1101/gad.913001 |pmc=312771 }}

References

{{Reflist}}

Further reading

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  • {{Cite journal |vauthors=Yamashita A, Ohnishi T, Kashima I, etal |title=Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay. |journal=Genes Dev. |volume=15 |issue= 17 |pages= 2215–28 |year= 2001 |pmid= 11544179 |doi= 10.1101/gad.913001 | pmc=312771 }}
  • {{Cite journal |vauthors=Kim VN, Kataoka N, Dreyfuss G |title=Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex. |journal=Science |volume=293 |issue= 5536 |pages= 1832–6 |year= 2001 |pmid= 11546873 |doi= 10.1126/science.1062829 |bibcode=2001Sci...293.1832K |s2cid=12018200 }}
  • {{Cite journal |vauthors=Lykke-Andersen J, Shu MD, Steitz JA |title=Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. |journal=Science |volume=293 |issue= 5536 |pages= 1836–9 |year= 2001 |pmid= 11546874 |doi= 10.1126/science.1062786 |bibcode=2001Sci...293.1836L |s2cid=389385 }}
  • {{Cite journal | author=Lykke-Andersen J |title=Identification of a human decapping complex associated with hUpf proteins in nonsense-mediated decay. |journal=Mol. Cell. Biol. |volume=22 |issue= 23 |pages= 8114–21 |year= 2003 |pmid= 12417715 |doi=10.1128/MCB.22.23.8114-8121.2002 | pmc=134073 }}
  • {{Cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{Cite journal |vauthors=Chiu SY, Serin G, Ohara O, Maquat LE |title=Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1. |journal=RNA |volume=9 |issue= 1 |pages= 77–87 |year= 2003 |pmid= 12554878 |doi=10.1261/rna.2137903 | pmc=1370372 }}
  • {{Cite journal |vauthors=Lejeune F, Li X, Maquat LE |title=Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities. |journal=Mol. Cell |volume=12 |issue= 3 |pages= 675–87 |year= 2003 |pmid= 14527413 |doi=10.1016/S1097-2765(03)00349-6 |doi-access=free }}
  • {{Cite journal |vauthors=Ohnishi T, Yamashita A, Kashima I, etal |title=Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7. |journal=Mol. Cell |volume=12 |issue= 5 |pages= 1187–200 |year= 2004 |pmid= 14636577 |doi=10.1016/S1097-2765(03)00443-X |doi-access=free }}
  • {{Cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
  • {{Cite journal |vauthors=Kadlec J, Izaurralde E, Cusack S |title=The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3. |journal=Nat. Struct. Mol. Biol. |volume=11 |issue= 4 |pages= 330–7 |year= 2004 |pmid= 15004547 |doi= 10.1038/nsmb741 |s2cid=23042477 }}
  • {{Cite journal |vauthors=Dunham A, Matthews LH, Burton J, etal |title=The DNA sequence and analysis of human chromosome 13. |journal=Nature |volume=428 |issue= 6982 |pages= 522–8 |year= 2004 |pmid= 15057823 |doi= 10.1038/nature02379 | pmc=2665288 |bibcode=2004Natur.428..522D }}
  • {{Cite journal |vauthors=Lehner B, Sanderson CM |title=A protein interaction framework for human mRNA degradation. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1315–23 |year= 2004 |pmid= 15231747 |doi= 10.1101/gr.2122004 | pmc=442147 }}
  • {{Cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
  • {{Cite journal |vauthors=Kunz JB, Neu-Yilik G, Hentze MW, etal |title=Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation. |journal=RNA |volume=12 |issue= 6 |pages= 1015–22 |year= 2006 |pmid= 16601204 |doi= 10.1261/rna.12506 | pmc=1464862 }}
  • {{Cite journal |vauthors=Tarpey PS, Raymond FL, Nguyen LS, etal |title=Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. |journal=Nat. Genet. |volume=39 |issue= 9 |pages= 1127–33 |year= 2007 |pmid= 17704778 |doi= 10.1038/ng2100 | pmc=2872770 }}
  • {{Cite journal |vauthors=Singh G, Jakob S, Kleedehn MG, Lykke-Andersen J |title=Communication with the exon-junction complex and activation of nonsense-mediated decay by human Upf proteins occur in the cytoplasm. |journal=Mol. Cell |volume=27 |issue= 5 |pages= 780–92 |year= 2007 |pmid= 17803942 |doi= 10.1016/j.molcel.2007.06.030 |doi-access= free }}

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{{Gene-13-stub}}