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. [provided by RefSeq, Jul 2008].
E3 ubiquitin-protein ligase UBR1; E3a ligase; JBS; MGC142065; MGC142067; N-recognin-1; RING-type E3 ubiquitin transferase UBR1; ubiquitin ligase E3 alpha-I; Ubiquitin protein ligase E3 component n-recognin 1; ubiquitin-protein ligase E3-alpha; Ubiquitin-protein ligase E3-alpha-1; Ubiquitin-protein ligase E3-alpha-I