UBR1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
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View/Edit Human

The human gene UBR1 encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1.[1][2]

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.[2]

References

  1. 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. doi:10.1073/pnas.95.14.7898. PMC 20901. PMID 9653112.
  2. 2.0 2.1 "Entrez Gene: UBR1 ubiquitin protein ligase E3 component n-recognin 1".

Further reading




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