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Mammalian protein found in Homo sapiens
The human gene UBR1 encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1 .[ 5] [ 6]
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 .[ 6]
^ a b c GRCh38: Ensembl release 89: ENSG00000159459 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027272 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Kwon YT, Reiss Y, Fried VA, Hershko A, Yoon JK, Gonda DK, Sangan P, Copeland NG, Jenkins NA, Varshavsky A (Aug 1998). "The mouse and human genes encoding the recognition component of the N-end rule pathway" . Proc Natl Acad Sci U S A . 95 (14): 7898–903. Bibcode :1998PNAS...95.7898K . doi :10.1073/pnas.95.14.7898 . PMC 20901 . PMID 9653112 .
^ a b "Entrez Gene: UBR1 ubiquitin protein ligase E3 component n-recognin 1" .
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6.1 : Carbon-Oxygen6.2 : Carbon-Sulfur6.3 : Carbon-Nitrogen