UBR1

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UBR1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesUBR1, JBS, ubiquitin protein ligase E3 component n-recognin 1
External IDsMGI: 1277977 HomoloGene: 7582 GeneCards: UBR1
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for UBR1
Genomic location for UBR1
Band15q15.2Start42,942,897 bp[1]
End43,106,113 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_174916

NM_009461

RefSeq (protein)

NP_777576

NP_033487

Location (UCSC)Chr 15: 42.94 – 43.11 MbChr 2: 120.86 – 120.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000159459 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027272 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ a b "Entrez Gene: UBR1 ubiquitin protein ligase E3 component n-recognin 1".

Further reading[edit]