YGR184C

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Systematic name YGR184C
Gene name UBR1
Aliases PTR1
Feature type ORF, Verified
Coordinates Chr VII:865753..859901
Primary SGDID S000003416


Description of YGR184C: E3 ubiquitin ligase (N-recognin), forms heterodimer with Rad6p to ubiquitinate substrates in the N-end rule pathway; regulates peptide transport via Cup9p ubiquitination; mutation in human UBR1 causes Johansson-Blizzard Syndrome (JBS)[1][2][3][4][5][6]




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References

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  1. Bartel B, et al. (1990) The recognition component of the N-end rule pathway. EMBO J 9(10):3179-89 SGD PMID 2209542
  2. Byrd C, et al. (1998) The N-end rule pathway controls the import of peptides through degradation of a transcriptional repressor. EMBO J 17(1):269-77 SGD PMID 9427760
  3. Dohmen RJ, et al. (1991) The N-end rule is mediated by the UBC2(RAD6) ubiquitin-conjugating enzyme. Proc Natl Acad Sci U S A 88(16):7351-5 SGD PMID 1651502
  4. Xia Z, et al. (2008) Substrate-binding Sites of UBR1, the Ubiquitin Ligase of the N-end Rule Pathway. J Biol Chem 283(35):24011-28 SGD PMID 18566452
  5. Xie Y and Varshavsky A (2000) Physical association of ubiquitin ligases and the 26S proteasome. Proc Natl Acad Sci U S A 97(6):2497-502 SGD PMID 10688918
  6. Zenker M, et al. (2005) Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet 37(12):1345-50 SGD PMID 16311597

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