Q8IWV7.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
93,184 Da
NCBI Official Full Name
E3 ubiquitin-protein ligase UBR1
NCBI Official Synonym Full Names
ubiquitin protein ligase E3 component n-recognin 1
NCBI Official Synonym Symbols
NCBI Protein Information
E3 ubiquitin-protein ligase UBR1
UniProt Protein Name
E3 ubiquitin-protein ligase UBR1
UniProt Synonym Protein Names
N-recognin-1; Ubiquitin-protein ligase E3-alpha-1; Ubiquitin-protein ligase E3-alpha-I
UniProt Entry Name
UBR1_HUMAN
NCBI Summary for UBR1
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. [provided by RefSeq, Jul 2008]
UniProt Comments for UBR1
UBR1: 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. Defects in UBR1 are a cause of Johanson-Blizzard syndrome (JBS). 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. Belongs to the UBR1 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Ubiquitin conjugating system; Ubiquitin ligase; EC 6.3.2.19; Ligase; EC 6.3.2.-
Chromosomal Location of Human Ortholog: 15q13
Cellular Component: cytoplasm; cytosol; proteasome complex; ubiquitin ligase complex
Molecular Function: ligase activity; zinc ion binding
Biological Process: negative regulation of TOR signaling pathway; protein ubiquitination
Disease: Johanson-blizzard Syndrome
Research Articles on UBR1
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Products associated with anti-UBR1 antibody
Pathways associated with anti-UBR1 antibody
Diseases associated with anti-UBR1 antibody
Organs/Tissues associated with anti-UBR1 antibody
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