The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

UBR1  -  ubiquitin protein ligase E3 component n...

Homo sapiens

Synonyms: E3 ubiquitin-protein ligase UBR1, N-recognin-1, Ubiquitin-protein ligase E3-alpha-1, Ubiquitin-protein ligase E3-alpha-I
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of UBR1


Psychiatry related information on UBR1


High impact information on UBR1

  • We mapped the disease-associated locus to chromosome 15q14-21.1 and identified mutations, mostly truncating ones, in the gene UBR1 in 12 unrelated families with Johanson-Blizzard syndrome [1].
  • Moreover, UBR1 depletion in HeLa cells, which constitutively express UBR1 at a high level, enhances both c-Fos expression and cell growth, whereas ERK5 depletion reduces both of them [3].
  • ERK5 inhibits the nuclear export of c-Fos by phosphorylating Thr232 in the c-Fos NES(221-233) and disrupts the interaction of c-Fos with UBR1 by phosphorylating Ser32 [3].
  • UBR1 and UBR2 are 46% identical and appear to be indistinguishable in their recognition of N-degrons [2].
  • The mammalian genome encodes at least seven UBR box-containing proteins, which we propose to call UBR1 to UBR7 [4].

Anatomical context of UBR1


Other interactions of UBR1

  • RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway [5].


  1. 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]
  2. Impaired neurogenesis and cardiovascular development in mice lacking the E3 ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. An, J.Y., Seo, J.W., Tasaki, T., Lee, M.J., Varshavsky, A., Kwon, Y.T. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  3. Spatiotemporal Regulation of c-Fos by ERK5 and the E3 Ubiquitin Ligase UBR1, and Its Biological Role. Sasaki, T., Kojima, H., Kishimoto, R., Ikeda, A., Kunimoto, H., Nakajima, K. Mol. Cell (2006) [Pubmed]
  4. A family of mammalian E3 ubiquitin ligases that contain the UBR box motif and recognize N-degrons. Tasaki, T., Mulder, L.C., Iwamatsu, A., Lee, M.J., Davydov, I.V., Varshavsky, A., Muesing, M., Kwon, Y.T. Mol. Cell. Biol. (2005) [Pubmed]
  5. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. Yin, J., Kwon, Y.T., Varshavsky, A., Wang, W. Hum. Mol. Genet. (2004) [Pubmed]
WikiGenes - Universities