| ubiquitin protein ligase E3 component n-recognin 1 | OKDB#: 5738 |
| Symbols: | UBR1 | Species: | human | ||
| Synonyms: | JBS | Locus: | 15q15.2 in Homo sapiens |
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| General Comment | NCBI 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] | ||||
| General function | DNA repair | ||||
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| Cellular localization | Nuclear | ||||
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| Ovarian localization | Oocyte | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | March 21, 2020, 4:15 p.m. | by: |
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| last update: | March 21, 2020, 4:16 p.m. | by: | hsueh email: |
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