The human geneUBR1 encodes the enzymeubiquitin-protein ligase E3 component n-recognin 1.[5][6]
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.[6]
Chiannilkulchai N, Pasturaud P, Richard I, et al. (1995). "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. doi:10.1093/hmg/4.4.717. PMID7633422.
Sakane A, Hatakeyama S, Sasaki T (2007). "Involvement of Rabring7 in EGF receptor degradation as an E3 ligase". Biochem. Biophys. Res. Commun. 357 (4): 1058–64. doi:10.1016/j.bbrc.2007.04.052. PMID17462600.
Wei S, Lin LF, Yang CC, et al. (2007). "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. doi:10.1124/mol.107.035287. PMID17569795. S2CID38439682.