The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme.
Isoform 1
E3 ubiquitin ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their ubiquitination (PubMed:34998453). Plays a role in the regulation of antiviral responses by promoting the degradation of TRAF3, TLR4 and TLR9 (PubMed:15107846, PubMed:19893624). In turn, down-regulates NF-kappa-B and IRF3 activation as well as beta interferon production. Participates also in the regulation of autophagy by ubiquitinating BECN1 leading to its degradation and autophagy inhibition (PubMed:25484083). Plays a role in ARC-dependent synaptic plasticity by mediating ARC ubiquitination resulting in its rapid proteasomal degradation (PubMed:24945773). Plays aso an essential role in spermatogenesis and male fertility (By similarity). Mechanistically, regulates meiosis by promoting the degradation of PRKACB through the ubiquitin-mediated lysosome pathway (By similarity). Modulates the gonadotropin-releasing hormone signal pathway by affecting the stability of STAU2 that is required for the microtubule-dependent transport of neuronal RNA from the cell body to the dendrite (By similarity).
Isoform 3
Inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis.
Gordon Holmes syndrome
GDHS
A disease characterized by cerebellar symptoms and signs of sex steroid deficiency. Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility.
None
The disease is caused by variants affecting the gene represented in this entry.
Protein modification; protein ubiquitination.
Auto-ubiquitinated.
Phosphorylation at Ser-719 enhances acceptor ubiquitin binding and chain-type specificity towards 'Lys-63' di-ubiquitin but not di-ubiquitin with other linkage types.
Ubiquitous, with the highest levels of expression in testis and peripheral blood leukocytes.
TRIAD3, UBCE7IP1, ZIN, RNF216, E3 ubiquitin-protein ligase RNF216, RING finger protein 216, RING-type E3 ubiquitin transferase RNF216, Triad domain-containing protein 3, Ubiquitin-conjugating enzyme 7-interacting protein 1, Zinc finger protein inhibiting NF-kappa-B
Proteins
Epigenetics
99406Da
We found 1 product in 1 category