UPF1

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

{{Infobox_gene}}

Regulator of nonsense transcripts 1 (or Up-frameshift suppressor 1 homolog{{Cite web |title=UniProt |url=https://www.uniprot.org/uniprotkb/Q9EPU0/entry |access-date=2024-09-28 |website=www.uniprot.org}}) is a protein that in humans is encoded by the UPF1 gene.{{cite journal | vauthors = Perlick HA, Medghalchi SM, Spencer FA, ((Kendzior RJ Jr)), Dietz HC | title = Mammalian orthologues of a yeast regulator of nonsense transcript stability | journal = Proc Natl Acad Sci U S A | volume = 93 | issue = 20 | pages = 10928–32 |date=November 1996 | pmid = 8855285 | pmc = 38260 | doi =10.1073/pnas.93.20.10928 | bibcode = 1996PNAS...9310928P | doi-access = free }}{{cite journal | vauthors = Applequist SE, Selg M, Raman C, Jack HM | title = Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein | journal = Nucleic Acids Res | volume = 25 | issue = 4 | pages = 814–21 |date=March 1997 | pmid = 9064659 | pmc = 146496 | doi =10.1093/nar/25.4.814 }}

Function

This gene encodes a protein that is part of a post-splicing multiprotein complex, the exon junction complex, involved in both mRNA nuclear export and mRNA surveillance. 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 is located in both the cytoplasm and nucleus.{{cite journal | vauthors = Singh AK, Choudhury SR, De S, Zhang J, Kissane S, Dwivedi V, Ramanathan P, Petric M, Orsini L, Hebenstreit D, Brogna S | display-authors = 6 | title = The RNA helicase UPF1 associates with mRNAs co-transcriptionally and is required for the release of mRNAs from gene loci | journal = eLife | volume = 8 | pages = e41444 | date = March 2019 | pmid = 30907728 | doi = 10.7554/eLife.41444 | pmc = 6447362 | veditors = Singer RH, Manley JL | doi-access = free }} When translation ends, it interacts with the functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene.{{cite web | title = UPF1 UPF1 RNA helicase and ATPase [ Homo sapiens (human) ]| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5976}}

Interactions

UPF1 interacts with:

{{div col|colwidth=20em}}

  • DCP1A,
  • DCP2,{{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 = 2002 | pmid = 12417715 | pmc = 134073 | doi = 10.1128/MCB.22.23.8114-8121.2002}}
  • SMG1,
  • UPF2,{{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 = Yamashita A, Ohnishi T, Kashima I, Taya Y, Ohno S | 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 | pmc = 312771 | doi = 10.1101/gad.913001 }}{{cite journal | vauthors = Schell T, Köcher T, Wilm M, Seraphin B, Kulozik AE, Hentze MW | 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 | year = 2003 | pmid = 12723973 | pmc = 1223536 | doi = 10.1042/BJ20021920 }}{{cite journal | vauthors = Mendell JT, Medghalchi SM, Lake RG, Noensie EN, Dietz HC | title = Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes | journal = Mol. Cell. Biol. | volume = 20 | issue = 23 | pages = 8944–57 | year = 2000 | pmid = 11073994 | pmc = 86549 | doi = 10.1128/MCB.20.23.8944-8957.2000}}{{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 | year = 2000 | pmid = 11163187 | doi = 10.1016/S0092-8674(00)00214-2| s2cid = 18417600 | doi-access = free }}
  • UPF3A, and
  • UPF3B.

{{Div col end}}

References

{{Reflist}}

Further reading

{{Refbegin | 2}}

  • {{cite journal | vauthors=Azzalin CM, Lingner J |title=The double life of UPF1 in RNA and DNA stability pathways |journal=Cell Cycle |volume=5 |issue= 14 |pages= 1496–8 |year= 2006 |pmid= 16861888 |doi=10.4161/cc.5.14.3093 |doi-access=free }}
  • {{cite journal | vauthors=Horikoshi M, Sekimizu K, Natori S |title=Analysis of the stimulatory factor of RNA polymerase II in the initiation and elongation complex |journal=J. Biol. Chem. |volume=259 |issue= 1 |pages= 608–11 |year= 1984 |doi=10.1016/S0021-9258(17)43705-7 |pmid= 6200476 |doi-access=free }}
  • {{cite journal |vauthors=Nagase T, Seki N, Ishikawa K, etal |title=Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain |journal=DNA Res. |volume=3 |issue= 5 |pages= 321–9, 341–54 |year= 1997 |pmid= 9039502 |doi=10.1093/dnares/3.5.321 |doi-access=free }}
  • {{cite journal |vauthors=Czaplinski K, Ruiz-Echevarria MJ, Paushkin SV, etal |title=The surveillance complex interacts with the translation release factors to enhance termination and degrade aberrant mRNAs |journal=Genes Dev. |volume=12 |issue= 11 |pages= 1665–77 |year= 1998 |pmid= 9620853 |doi=10.1101/gad.12.11.1665 | pmc=316864 }}
  • {{cite journal |vauthors=Page MF, Carr B, Anders KR, etal |title=SMG-2 Is a Phosphorylated Protein Required for mRNA Surveillance in Caenorhabditis elegans and Related to Upf1p of Yeast |journal=Mol. Cell. Biol. |volume=19 |issue= 9 |pages= 5943–51 |year= 1999 |pmid= 10454541 |doi= 10.1128/MCB.19.9.5943| pmc=84455 }}
  • {{cite journal |vauthors=Bhattacharya A, Czaplinski K, Trifillis P, etal |title=Characterization of the biochemical properties of the human Upf1 gene product that is involved in nonsense-mediated mRNA decay |journal=RNA |volume=6 |issue= 9 |pages= 1226–35 |year= 2000 |pmid= 10999600 |doi=10.1017/S1355838200000546 | pmc=1369996 }}
  • {{cite journal |vauthors=Mendell JT, Medghalchi SM, Lake RG, etal |title=Novel Upf2p Orthologues Suggest a Functional Link between Translation Initiation and Nonsense Surveillance Complexes |journal=Mol. Cell. Biol. |volume=20 |issue= 23 |pages= 8944–57 |year= 2000 |pmid= 11073994 |doi=10.1128/MCB.20.23.8944-8957.2000 | pmc=86549 }}
  • {{cite journal |vauthors=Serin G, Gersappe A, Black JD, etal |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 |year= 2001 |pmid= 11113196 |doi= 10.1128/MCB.21.1.209-223.2001 | pmc=88795 }}
  • {{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 |year= 2001 |pmid= 11163187 |doi=10.1016/S0092-8674(00)00214-2 |s2cid=18417600 |doi-access=free }}
  • {{cite journal |vauthors=Denning G, Jamieson L, Maquat LE, etal |title=Cloning of a novel phosphatidylinositol kinase-related kinase: characterization of the human SMG-1 RNA surveillance protein |journal=J. Biol. Chem. |volume=276 |issue= 25 |pages= 22709–14 |year= 2001 |pmid= 11331269 |doi= 10.1074/jbc.C100144200 |doi-access= free }}
  • {{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=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 |vauthors=Carastro LM, Tan CK, Selg M, etal |title=Identification of delta helicase as the bovine homolog of HUPF1: demonstration of an interaction with the third subunit of DNA polymerase delta |journal=Nucleic Acids Res. |volume=30 |issue= 10 |pages= 2232–43 |year= 2002 |pmid= 12000843 |doi=10.1093/nar/30.10.2232 | pmc=115286 }}
  • {{cite journal | vauthors=Mendell JT, ((ap Rhys CM)), Dietz HC |title=Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts |journal=Science |volume=298 |issue= 5592 |pages= 419–22 |year= 2002 |pmid= 12228722 |doi= 10.1126/science.1074428 |s2cid=46447414 |doi-access=free }}
  • {{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=Schell T, Köcher T, Wilm M, etal |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 |year= 2003 |pmid= 12723973 |doi= 10.1042/BJ20021920 | pmc=1223536 }}

{{Refend}}

{{PDB Gallery|geneid=5976}}

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