The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application notesWB: Use at a concentration of 1-5 µg/ml.
Not yet tested in other applications. Optimal dilutions/concentrations should be determined by the end user.
FunctionE3 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.
Tissue specificityBroadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level).
PathwayProtein modification; protein ubiquitination.
Involvement in diseaseDefects in UBR1 are a cause of Johanson-Blizzard syndrome (JBS) [MIM:243800]. This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis.
Sequence similaritiesBelongs to the UBR1 family. Contains 1 RING-type zinc finger. Contains 1 UBR-type zinc finger.
Developmental stageExpressed in fetal pancreas.
DomainThe RING-H2 zinc finger is an atypical RING finger with a His ligand in place of the fourth Cys of the classical motif.
Post-translational modificationsPhosphorylated upon DNA damage, probably by ATM or ATR.