UPF1

UPF1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2GJK, 2GK6, 2GK7, 2IYK, 2WJV, 2WJY, 2XZO, 2XZP
Identifiers
Aliases	UPF1, HNORF1, RENT1, pNORF1, smg-2, RNA helicase and ATPase, UPF1 RNA helicase and ATPase, UTF
External IDs	OMIM: 601430 MGI: 107995 HomoloGene: 2185 GeneCards: UPF1
Gene location (Human)
Chr.	Chromosome 19 (human)
End	18,868,230 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	70,805,928 bp
RNA expression pattern
	Top expressed in
	anterior pituitary; ; right uterine tube; ; right lobe of thyroid gland; ; stromal cell of endometrium; ; minor salivary gland; ; skin of abdomen; ; right lobe of liver; ; left lobe of thyroid gland; ; gallbladder; ; body of stomach;
	Top expressed in
	spermatocyte; ; aortic valve; ; lip; ; ascending aorta; ; secondary oocyte; ; yolk sac; ; thymus; ; superior frontal gyrus; ; lens; ; proximal tubule;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; DNA binding; telomeric DNA binding; zinc ion binding; chromatin binding; metal ion binding; protein binding; hydrolase activity; ATP binding; helicase activity; RNA binding;
Cellular component	cytosol; P-body; exon-exon junction complex; supraspliceosomal complex; nucleoplasm; chromatin; cytoplasm; nucleus;
Biological process	regulation of translational termination; telomere maintenance via semi-conservative replication; positive regulation of mRNA catabolic process; mRNA export from nucleus; DNA replication; nuclear-transcribed mRNA catabolic process; cellular response to interleukin-1; nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay; histone mRNA catabolic process; dosage compensation by inactivation of X chromosome; cellular response to lipopolysaccharide; 3'-UTR-mediated mRNA destabilization; DNA repair; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; regulation of telomere maintenance; cell cycle phase transition; viral process;
	Sources:Amigo / QuickGO
Orthologs
	5976
	19704
	ENSG00000005007
	ENSMUSG00000058301
	Q92900
	Q9EPU0
	NM_002911; NM_001297549
	NM_001122829; NM_030680
	NP_001284478; NP_002902; NP_001284478.1
	NP_001116301; NP_109605
	Wikidata
View/Edit Human	View/Edit Mouse

Regulator of nonsense transcripts 1 is a protein that in humans is encoded by the UPF1 gene.^[5]^[6]

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 of the cell.^[7] When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene.^[8]

Interactions

UPF1 has been shown to interact with:

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000005007 - Ensembl, May 2017
1 2 3 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.
↑ 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.
↑ "Entrez Gene: UPF1 UPF1 regulator of nonsense transcripts homolog (yeast)".
1 2 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.
1 2 3 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.
1 2 3 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.
1 2 3 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.
1 2 3 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.

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): 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000005007 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000058301 - Ensembl, 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.

[pmid8855285-5] 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.

[pmid9064659-6] 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.

[7] 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.

[entrez-8] "Entrez Gene: UPF1 UPF1 regulator of nonsense transcripts homolog (yeast)".

[pmid12417715-9] 1 2 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.

[pmid14527413-10] 1 2 3 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.

[pmid11544179-11] 1 2 3 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.

[pmid12723973-12] 1 2 3 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.

[pmid11073994-13] 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.

[pmid11163187-14] 1 2 3 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.

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Function

Interactions

References

Further reading