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Gene Review

Upf1  -  UPF1 regulator of nonsense transcripts...

Mus musculus

Synonyms: ATP-dependent helicase RENT1, B430202H16Rik, NORF1, Nonsense mRNA reducing factor 1, PNORF-1, ...


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High impact information on Upf1

  • Furthermore, Rent1(-/-) blastocysts isolated at 3.5 days post-coitum undergo apoptosis in culture following a brief phase of cellular expansion [1].
  • Experiments performed with protein synthesis inhibitors and siRNA-mediated down-regulation of Upf1 protein verified that the variant transcript was degraded by nonsense-mediated mRNA decay (NMD) [2].
  • Two other genes, Rent1 and Sap18, were found to be Oct-4 downstream genes for the first time [3].
  • To probe further an effect involving RNA degradation pathways, the inhibition by RNA interference of Rent1, a factor essential for nonsense-mediated decay and Exosc10, a specific nuclear component of the exosome, was analysed and shown to similarly impair Xist upregulation and XCI [4].
  • Knock-down of Upf1 in mESCs results in NMD defects as shown with upregulated transcripts of NMD targets. Interestingly, Knock-down of Upf1 does not compromise the cellular viability, but causes differentiation defect [5].


  1. Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Medghalchi, S.M., Frischmeyer, P.A., Mendell, J.T., Kelly, A.G., Lawler, A.M., Dietz, H.C. Hum. Mol. Genet. (2001) [Pubmed]
  2. Polyamine-regulated unproductive splicing and translation of spermidine/spermine N1-acetyltransferase. Hyvönen, M.T., Uimari, A., Keinänen, T.A., Heikkinen, S., Pellinen, R., Wahlfors, T., Korhonen, A., Närvänen, A., Wahlfors, J., Alhonen, L., Jänne, J. RNA (2006) [Pubmed]
  3. Identification of mouse blastocyst genes that are downregulated by double-stranded RNA-mediated knockdown of Oct-4 expression. Shin, M.R., Cui, X.S., Jun, J.H., Jeong, Y.J., Kim, N.H. Mol. Reprod. Dev. (2005) [Pubmed]
  4. Nuclear mRNA degradation pathway(s) are implicated in Xist regulation and X chromosome inactivation. Ciaudo, C., Bourdet, A., Cohen-Tannoudji, M., Dietz, H.C., Rougeulle, C., Avner, P. PLoS Genet. (2006) [Pubmed]
  5. Smg6/Est1 licenses embryonic stem cell differentiation via nonsense-mediated mRNA decay. Li, T., Shi, Y., Wang, P., Guachalla, L.M., Sun, B., Joerss, T., Chen, Y.S., Groth, M., Krueger, A., Platzer, M., Yang, Y.G., Rudolph, K.L., Wang, Z.Q. EMBO. J. (2015) [Pubmed]
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