UBR1

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Ubiquitin protein ligase E3 component n-recognin 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols UBR1 ; JBS
External IDs OMIM605981 MGI1277977 HomoloGene7582 GeneCards: UBR1 Gene
Orthologs
Species Human Mouse
Entrez 197131 22222
Ensembl ENSG00000159459 ENSMUSG00000027272
UniProt Q8IWV7 O70481
RefSeq (mRNA) NM_174916 NM_009461
RefSeq (protein) NP_777576 NP_033487
Location (UCSC) Chr 15:
43.24 – 43.4 Mb
Chr 2:
120.86 – 120.97 Mb
PubMed search [1] [2]

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[edit]

  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. ^ a b "Entrez Gene: UBR1 ubiquitin protein ligase E3 component n-recognin 1". 

Further reading[edit]