Disease-gene associations mined from literature

Literature associating UBR1 and Johanson-Blizzard syndrome

UBR1 [ENSP00000290650]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM