Disease-gene associations mined from literature

Literature on RNF216

RNF216 [ENSP00000374552]

Ubiquitin-conjugating enzyme 7-interacting protein 1; 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.

Synonyms:  RNF216,  RNF216p,  hRNF216,  C9JIV3,  F8W6D1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM