UBR1 gene

ubiquitin protein ligase E3 component n-recognin 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From 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.

From NCBI Gene:

  • Johanson-Blizzard syndrome

From UniProt:

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. [MIM:243800]

Cytogenetic Location: 15q15.2, which is the long (q) arm of chromosome 15 at position 15.2

Molecular Location: base pairs 42,942,897 to 43,106,088 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q15.2, which is the long (q) arm of chromosome 15 at position 15.2