UBR1

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]

Full Name

ubiquitin protein ligase E3 component n-recognin 1

Function

E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth.

Biological Process

Biological Process cellular response to leucine Source:UniProtKB1 Publication
Biological Process negative regulation of TOR signaling Source:UniProtKB1 Publication
Biological Process protein ubiquitination Source:GO_Central1 Publication
Biological Process ubiquitin-dependent protein catabolic process via the N-end rule pathway Source:GO_Central1 Publication

Cellular Location

Cytoplasm, cytosol

Involvement in disease

Johanson-Blizzard syndrome (JBS):
This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and intellectual disability. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis.