Literature associating UBR1 and Johanson-Blizzard syndrome
Ubiquitin protein ligase E3 component n-recognin 1; 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; Belongs to the UBR1 family.
Synonyms: UBR1, UBR1p, hUBR1, H3BNQ6, H3BQF8 ...