UBR1 explained

The human gene UBR1 encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1.^{[1] [2]}

The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson–Blizzard syndrome.

Further reading

• Varshavsky A . The N-end rule: functions, mysteries, uses . Proc. Natl. Acad. Sci. U.S.A. . 93 . 22 . 12142–9 . 1996 . 8901547 . 10.1073/pnas.93.22.12142 . 37957 . 1996PNAS...9312142V . free .
• Chiannilkulchai N, Pasturaud P, Richard I, etal . A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene . Hum. Mol. Genet. . 4 . 4 . 717–25 . 1995 . 7633422 . 10.1093/hmg/4.4.717 .
• Dgany O, Avidan N, Delaunay J, etal . Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1 . Am. J. Hum. Genet. . 71 . 6 . 1467–74 . 2003 . 12434312 . 10.1086/344781 . 378595 .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Beausoleil SA, Jedrychowski M, Schwartz D, etal . Large-scale characterization of HeLa cell nuclear phosphoproteins . Proc. Natl. Acad. Sci. U.S.A. . 101 . 33 . 12130–5 . 2004 . 15302935 . 10.1073/pnas.0404720101 . 514446 . 2004PNAS..10112130B . free .
• Yin J, Kwon YT, Varshavsky A, Wang W . RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway . Hum. Mol. Genet. . 13 . 20 . 2421–30 . 2005 . 15317757 . 10.1093/hmg/ddh269 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Kwak KS, Zhou X, Solomon V, etal . Regulation of protein catabolism by muscle-specific and cytokine-inducible ubiquitin ligase E3alpha-II during cancer cachexia . Cancer Res. . 64 . 22 . 8193–8 . 2005 . 15548684 . 10.1158/0008-5472.CAN-04-2102 . 20424565 .
• Tasaki T, Mulder LC, Iwamatsu A, etal . A Family of Mammalian E3 Ubiquitin Ligases That Contain the UBR Box Motif and Recognize N-Degrons . Mol. Cell. Biol. . 25 . 16 . 7120–36 . 2005 . 16055722 . 10.1128/MCB.25.16.7120-7136.2005 . 1190250 .
• Stelzl U, Worm U, Lalowski M, etal . A human protein-protein interaction network: a resource for annotating the proteome . Cell . 122 . 6 . 957–68 . 2005 . 16169070 . 10.1016/j.cell.2005.08.029 . 11858/00-001M-0000-0010-8592-0 . 8235923 . free .
• Zenker M, Mayerle J, Lerch MM, etal . 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 . 2006 . 16311597 . 10.1038/ng1681 . 23050042 .
• Sasaki T, Kojima H, Kishimoto R, etal . Spatiotemporal regulation of c-Fos by ERK5 and the E3 ubiquitin ligase UBR1, and its biological role . Mol. Cell . 24 . 1 . 63–75 . 2006 . 17018293 . 10.1016/j.molcel.2006.08.005 . free .
• Zou W, Wang J, Zhang DE . Negative Regulation of ISG15 E3 ligase EFP through its autoISGylation . Biochem. Biophys. Res. Commun. . 354 . 1 . 321–7 . 2007 . 17222803 . 10.1016/j.bbrc.2006.12.210 . 1858649 .
• Sakane A, Hatakeyama S, Sasaki T . Involvement of Rabring7 in EGF receptor degradation as an E3 ligase . Biochem. Biophys. Res. Commun. . 357 . 4 . 1058–64 . 2007 . 17462600 . 10.1016/j.bbrc.2007.04.052 .
• Wei S, Lin LF, Yang CC, etal . Thiazolidinediones modulate the expression of beta-catenin and other cell-cycle regulatory proteins by targeting the F-box proteins of Skp1-Cul1-F-box protein E3 ubiquitin ligase independently of peroxisome proliferator-activated receptor gamma . Mol. Pharmacol. . 72 . 3 . 725–33 . 2007 . 17569795 . 10.1124/mol.107.035287 . 38439682 .

Notes and References

1. Kwon YT, Reiss Y, Fried VA, Hershko A, Yoon JK, Gonda DK, Sangan P, Copeland NG, Jenkins NA, Varshavsky A . The mouse and human genes encoding the recognition component of the N-end rule pathway . Proc Natl Acad Sci U S A . 95 . 14 . 7898–903 . Aug 1998 . 9653112 . 20901 . 10.1073/pnas.95.14.7898 . 1998PNAS...95.7898K . free .
2. Web site: Entrez Gene: UBR1 ubiquitin protein ligase E3 component n-recognin 1.