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.UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1) is a Protein Coding gene. Diseases associated with UBR1 include Johanson-Blizzard Syndrome and Urethral Obstruction Sequence. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ligase activity and leucine binding. An important paralog of this gene is UBR2.