Gene Symbol | UBR1 |
Entrez Gene ID | 197131 |
Full Name | ubiquitin protein ligase E3 component n-recognin 1 |
Synonyms | JBS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Johanson-Blizzard syndrome, 243800 (3) |