UBR1 est un gène codé par le symbole UBR1. Il est également connu sous le nom de: E3 ubiquitin-protein ligase N-recognin-1; RING-type E3 ubiquitin transferase Ubiquitin-protein ligase E3-alpha-1; Ubiquitin-protein ligase E3-alpha-I. UBR1 a une masse de 200.21kDa, une longueur d'acide aminé de 1749, et est impliqué dans Johanson-Blizzard syndrome.
Nous proposons 8 des anticorps contre UBR1, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level).
Implication dans la maladie
Johanson-Blizzard syndrome: 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.
Similitudes de séquence
Belongs to the UBR1 family.
Localisation cellulaire
Cytoplasm > Cytosol.
