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Crystal structure of RBR E3 ligase RNF216 with ubiquitinCrystal structure of RBR E3 ligase RNF216 with ubiquitin
Structural highlights
DiseaseRN216_HUMAN Cerebellar ataxia-hypogonadism syndrome. The disease is caused by variants affecting the gene represented in this entry. FunctionRN216_HUMAN Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNB production. Isoform 3 inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis.[1] [2] See AlsoReferences
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