Aliases for RNF216 Gene
External Ids for RNF216 Gene
Previous GeneCards Identifiers for RNF216 Gene
This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]
GeneCards Summary for RNF216 Gene
RNF216 (Ring Finger Protein 216) is a Protein Coding gene. Diseases associated with RNF216 include Gordon Holmes Syndrome and Leukodystrophy. Among its related pathways are Toll-like Receptor Signaling Pathway and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is RBCK1.
UniProtKB/Swiss-Prot Summary for RNF216 Gene
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.