UBR1
Description
The UBR1 (ubiquitin protein ligase E3 component n-recognin 1) is a protein-coding gene located on chromosome 15.
The human gene UBR1 encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1. The N-end rule pathway is a proteolytic pathway within the ubiquitin system. UBR1, encoded by this gene, binds to destabilizing N-terminal residues of substrate proteins and participates in the formation of a substrate-linked multiubiquitin chain, ultimately leading to the substrate protein's degradation. UBR1 contains a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been linked to Johanson–Blizzard syndrome.
UBR1 is an E3 ubiquitin-protein ligase that plays a role in the N-end rule pathway, recognizing and targeting proteins with destabilizing N-terminal residues for ubiquitination and subsequent degradation. It may also be involved in pancreatic homeostasis. UBR1 binds leucine and acts as a negative regulator of the leucine-mTOR signaling pathway, thus controlling cell growth.
UBR1 is also known as JBS.
