Gene: UBR1

Alternate names for this Gene: JBS

Gene Summary: 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q15.2

Description of this Gene: ubiquitin protein ligase E3 component n-recognin 1

Type of Gene: protein-coding

rs62020748 in UBR1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1388367359 in UBR1 gene and Johanson-Blizzard syndrome PMID 24599544 2014 Mutations in the human UBR1 gene and the associated phenotypic spectrum.

PMID 16311597 2005 Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

PMID 22072859 2011 Johanson-Blizzard syndrome.

PMID 21931868 2011 Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.

PMID 26149651 2015 Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

rs62020698 in UBR1 gene and Triglycerides measurement PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.