Protein-coding gene in the species Homo sapiens
Regulator of nonsense transcripts 1 (or Up-frameshift suppressor 1 homolog[ 5] protein that in humans is encoded by the UPF1 gene .[ 6] [ 7]
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 .[ 8] mRNA decapping . Use of multiple polyadenylation sites has been noted for this gene.[ 9]
Interactions
UPF1 interacts with:
References
^ a b c GRCh38: Ensembl release 89: ENSG00000005007 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058301 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "UniProt" . www.uniprot.org . Retrieved 2024-09-28 .^ 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 . ^ 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 . ^ 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 . ^ "UPF1 UPF1 RNA helicase and ATPase [ Homo sapiens (human) ]" .^ 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 . ^ 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 . ^ 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 . ^ 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 . ^ 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 . ^ 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
Azzalin CM, Lingner J (2006). "The double life of UPF1 in RNA and DNA stability pathways" . Cell Cycle . 5 (14): 1496– 8. doi :10.4161/cc.5.14.3093 PMID 16861888 . Horikoshi M, Sekimizu K, Natori S (1984). "Analysis of the stimulatory factor of RNA polymerase II in the initiation and elongation complex" . J. Biol. Chem . 259 (1): 608– 11. doi :10.1016/S0021-9258(17)43705-7 PMID 6200476 . Nagase T, Seki N, Ishikawa K, et al. (1997). "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" . DNA Res . 3 (5): 321– 9, 341– 54. doi :10.1093/dnares/3.5.321 PMID 9039502 . Czaplinski K, Ruiz-Echevarria MJ, Paushkin SV, et al. (1998). "The surveillance complex interacts with the translation release factors to enhance termination and degrade aberrant mRNAs" . Genes Dev . 12 (11): 1665– 77. doi :10.1101/gad.12.11.1665 . PMC 316864 PMID 9620853 . Page MF, Carr B, Anders KR, et al. (1999). "SMG-2 Is a Phosphorylated Protein Required for mRNA Surveillance in Caenorhabditis elegans and Related to Upf1p of Yeast" . Mol. Cell. Biol . 19 (9): 5943– 51. doi :10.1128/MCB.19.9.5943 . PMC 84455 PMID 10454541 . Bhattacharya A, Czaplinski K, Trifillis P, et al. (2000). "Characterization of the biochemical properties of the human Upf1 gene product that is involved in nonsense-mediated mRNA decay" . RNA . 6 (9) S1355838200000546: 1226– 35. doi :10.1017/S1355838200000546 . PMC 1369996 PMID 10999600 . Mendell JT, Medghalchi SM, Lake RG, et al. (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 . Serin G, Gersappe A, Black JD, et al. (2001). "Identification and Characterization of Human Orthologues to Saccharomyces cerevisiae Upf2 Protein and Upf3 Protein (Caenorhabditis elegans SMG-4)" . Mol. Cell. Biol . 21 (1): 209– 23. doi :10.1128/MCB.21.1.209-223.2001 . PMC 88795 PMID 11113196 . Lykke-Andersen J, Shu MD, Steitz JA (2001). "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 . Denning G, Jamieson L, Maquat LE, et al. (2001). "Cloning of a novel phosphatidylinositol kinase-related kinase: characterization of the human SMG-1 RNA surveillance protein" . J. Biol. Chem . 276 (25): 22709– 14. doi :10.1074/jbc.C100144200 PMID 11331269 . Yamashita A, Ohnishi T, Kashima I, et al. (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 . Lykke-Andersen J, Shu MD, Steitz JA (2001). "Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1". Science . 293 (5536): 1836– 9. Bibcode :2001Sci...293.1836L . doi :10.1126/science.1062786 . PMID 11546874 . S2CID 389385 . Carastro LM, Tan CK, Selg M, et al. (2002). "Identification of delta helicase as the bovine homolog of HUPF1: demonstration of an interaction with the third subunit of DNA polymerase delta" . Nucleic Acids Res . 30 (10): 2232– 43. doi :10.1093/nar/30.10.2232 . PMC 115286 PMID 12000843 . Mendell JT, ap Rhys CM, Dietz HC (2002). "Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts" . Science . 298 (5592): 419– 22. doi :10.1126/science.1074428 PMID 12228722 . S2CID 46447414 . Lykke-Andersen J (2003). "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 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899– 903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Chiu SY, Serin G, Ohara O, Maquat LE (2003). "Characterization of human Smg5/7a: A protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1" . RNA . 9 (1): 77– 87. doi :10.1261/rna.2137903 . PMC 1370372 PMID 12554878 . Schell T, Köcher T, Wilm M, et al. (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 .
PDB gallery
2gjk : Structural and functional insights into the human Upf1 helicase core
2gk6 : Structural and Functional insights into the human Upf1 helicase core
2gk7 : Structural and Functional insights into the human Upf1 helicase core
2iyk : CRYSTAL STRUCTURE OF THE UPF2-INTERACTING DOMAIN OF NONSENSE MEDIATED MRNA DECAY FACTOR UPF1
