Entrez gene ID | | 197131 |
Official gene symbol | | UBR1 |
Full name | | ubiquitin protein ligase E3 component n-recognin 1 |
Aliases | | ,JBS,MGC142065,MGC142067, |
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. [provided by RefSeq] |
Location | | Chromosome: 15 Locus: 15q13 |
Gene position | | 43398286 - 43235095 Map Viewer |
Gene orientation | | minus |
Gene size | | 163192 bp |
Gene sequence |
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OMIM ID | | 605981 |