Regulator of nonsense transcripts 1 (or Up-frameshift suppressor 1 homolog[5]) is a protein that in humans is encoded by the UPF1 gene.[6][7]

UPF1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesUPF1, HNORF1, RENT1, pNORF1, smg-2, RNA helicase and ATPase, UPF1 RNA helicase and ATPase, UTF
External IDsOMIM: 601430; MGI: 107995; HomoloGene: 2185; GeneCards: UPF1; OMA:UPF1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002911
NM_001297549

NM_001122829
NM_030680

RefSeq (protein)

NP_001284478
NP_002902
NP_001284478.1

NP_001116301
NP_109605

Location (UCSC)Chr 19: 18.83 – 18.87 MbChr 8: 70.78 – 70.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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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.[8] 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.[9]

Interactions

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UPF1 interacts with:

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000005007Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058301Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "UniProt". www.uniprot.org. Retrieved 2024-09-28.
  6. ^ Perlick HA, Medghalchi SM, Spencer FA, Kendzior RJ Jr, Dietz HC (November 1996). "Mammalian orthologues of a yeast regulator of nonsense transcript stability". Proc Natl Acad Sci U S A. 93 (20): 10928–32. Bibcode:1996PNAS...9310928P. doi:10.1073/pnas.93.20.10928. PMC 38260. PMID 8855285.
  7. ^ Applequist SE, Selg M, Raman C, Jack HM (March 1997). "Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein". Nucleic Acids Res. 25 (4): 814–21. doi:10.1093/nar/25.4.814. PMC 146496. PMID 9064659.
  8. ^ Singh AK, Choudhury SR, De S, Zhang J, Kissane S, Dwivedi V, et al. (March 2019). Singer RH, Manley JL (eds.). "The RNA helicase UPF1 associates with mRNAs co-transcriptionally and is required for the release of mRNAs from gene loci". eLife. 8: e41444. doi:10.7554/eLife.41444. PMC 6447362. PMID 30907728.
  9. ^ "UPF1 UPF1 RNA helicase and ATPase [ Homo sapiens (human) ]".
  10. ^ a b Lykke-Andersen J (2002). "Identification of a human decapping complex associated with hUpf proteins in nonsense-mediated decay". Mol. Cell. Biol. 22 (23): 8114–21. doi:10.1128/MCB.22.23.8114-8121.2002. PMC 134073. PMID 12417715.
  11. ^ a b c Lejeune F, Li X, Maquat LE (2003). "Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities". Mol. Cell. 12 (3): 675–87. doi:10.1016/S1097-2765(03)00349-6. PMID 14527413.
  12. ^ a b c Yamashita A, Ohnishi T, Kashima I, Taya Y, Ohno S (2001). "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". Genes Dev. 15 (17): 2215–28. doi:10.1101/gad.913001. PMC 312771. PMID 11544179.
  13. ^ a b c Schell T, Köcher T, Wilm M, Seraphin B, Kulozik AE, Hentze MW (2003). "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". Biochem. J. 373 (Pt 3): 775–83. doi:10.1042/BJ20021920. PMC 1223536. PMID 12723973.
  14. ^ Mendell JT, Medghalchi SM, Lake RG, Noensie EN, Dietz HC (2000). "Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes". Mol. Cell. Biol. 20 (23): 8944–57. doi:10.1128/MCB.20.23.8944-8957.2000. PMC 86549. PMID 11073994.
  15. ^ a b c Lykke-Andersen J, Shu MD, Steitz JA (2000). "Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon". Cell. 103 (7): 1121–31. doi:10.1016/S0092-8674(00)00214-2. PMID 11163187. S2CID 18417600.

Further reading

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