UBR1

• OMIM: 605 ​​981
• UniProt: Q8IWV7
• MGI: 1277977

The ubiquitin-protein ligase UBR1 (also E3 α -1, N- Recognin -1) an enzyme which depends a ubiquitin molecule at certain proteins. This reaction is part of the ubiquitinabhängigen protein degradation in protein quality control, which takes place in the cells of all eukaryotes. UBR1 is also involved in the metabolism of the pancreas and can be obtained by binding leucine to leucine - mTOR signaling pathway, thereby regulating cell growth. Mutations in the UBR1 gene are responsible for hereditary Johanson - Blizzard syndrome in humans.

Catalyzed reaction

Ubiquitin is ligated to a protein. The N -end rule determines which proteins are affected.

Function

The so-called "N -end rule" pathway is a proteolytic pathway of the ubiquitin system. The so-called recognition component of this path corresponding to this protein binds to the N-terminal amino acid residue of the target protein and thus provides the production of the substrate-bound multiubiquitin chain (known Polyubiquinierung ). This leads to the degradation of the target protein. The protein described herein has two Zinc - finger domains. Mutations in this gene have been associated with the emergence of Johanson - Blizzard syndrome.