From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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
^
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 .
^ 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): 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