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Gene Review

Ubr1  -  ubiquitin protein ligase E3 component n...

Mus musculus

Synonyms: AI504731, E3 alpha, E3 ubiquitin-protein ligase UBR1, N-recognin-1, Ubiquitin-protein ligase E3-alpha-1, ...
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Disease relevance of Ubr1

  • Loss or reduced levels of Ubr1 expression was associated with 5/14 spontaneous B-cell lymphomas in IgHmu-HOX11(Tg) mice and one of nine primary human T-ALLs [1].

High impact information on Ubr1

  • In addition, we found that Ubr1(-/-) mice, whose previously reported phenotypes include reduced weight and behavioral abnormalities, had an exocrine pancreatic insufficiency, with impaired stimulus-secretion coupling and increased susceptibility to pancreatic injury [2].
  • Ubr1 is ubiquitously expressed in adults, with skeletal muscle and heart being the sites of highest expression [3].
  • Mouse Ubr1 spans approximately 120 kilobases of genomic DNA and contains approximately 50 exons [3].
  • In mouse embryos, the Ubr1 expression is highest in the branchial arches and in the tail and limb buds [3].
  • Ubr1 is located in the middle of mouse chromosome 2 and in the syntenic 15q15-q21.1 region of human chromosome 15 [3].

Biological context of Ubr1


Associations of Ubr1 with chemical compounds

  • N-terminal arginine of a substrate protein is bound by the Ubr1-encoded E3alpha, the E3 component of the ubiquitin-proteasome-dependent N-end rule pathway [4].

Analytical, diagnostic and therapeutic context of Ubr1

  • Western immunoblot and semiquantitative reverse transcriptase-PCR analysis revealed downregulated expression of the Ubr1 gene product subsequent to viral integration [1].


  1. Loss of Ubr1 promotes aneuploidy and accelerates B-cell lymphomagenesis in TLX1/HOX11-transgenic mice. Chen, E., Kwon, Y.T., Lim, M.S., Dubé, I.D., Hough, M.R. Oncogene (2006) [Pubmed]
  2. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Zenker, M., Mayerle, J., Lerch, M.M., Tagariello, A., Zerres, K., Durie, P.R., Beier, M., Hülskamp, G., Guzman, C., Rehder, H., Beemer, F.A., Hamel, B., Vanlieferinghen, P., Gershoni-Baruch, R., Vieira, M.W., Dumic, M., Auslender, R., Gil-da-Silva-Lopes, V.L., Steinlicht, S., Rauh, M., Shalev, S.A., Thiel, C., Ekici, A.B., Winterpacht, A., Kwon, Y.T., Varshavsky, A., Reis, A. Nat. Genet. (2005) [Pubmed]
  3. The mouse and human genes encoding the recognition component of the N-end rule pathway. Kwon, Y.T., Reiss, Y., Fried, V.A., Hershko, A., Yoon, J.K., Gonda, D.K., Sangan, P., Copeland, N.G., Jenkins, N.A., Varshavsky, A. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  4. Altered activity, social behavior, and spatial memory in mice lacking the NTAN1p amidase and the asparagine branch of the N-end rule pathway. Kwon, Y.T., Balogh, S.A., Davydov, I.V., Kashina, A.S., Yoon, J.K., Xie, Y., Gaur, A., Hyde, L., Denenberg, V.H., Varshavsky, A. Mol. Cell. Biol. (2000) [Pubmed]
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