UBR1 è un gene codificato dal simbolo UBR1. È noto anche come: 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 ha una massa di 200.21kDa, una lunghezza di amminoacidi di 1749, ed è implicato in Johanson-Blizzard syndrome.
Offriamo 8 anticorpi contro UBR1, allevati nel Coniglio, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level).
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the UBR1 family.
Posizione cellulare
Cytoplasm > Cytosol.
