RNF216
entrez
54476
canonical
uniprot
Q9NWF9
canonical
ensembl
ENSG00000011275
resolver
ensp
ENSP00000374552
resolver
ensp
ENSP00000404602
resolver
genesymbol
RNF216
resolver
genesymbol_syn
TRIAD3
resolver
genesymbol_syn
UBCE7IP1
resolver
genesymbol_syn
ZIN
resolver
hgnc
HGNC:21698
resolver
uniprot
A8K8N1
resolver
uniprot
Q6Y691
resolver
uniprot
Q75ML7
resolver
uniprot
Q7Z2H7
resolver
uniprot
Q7Z7C1
resolver
uniprot
Q8NHW7
resolver
uniprot
Q9NYT1
resolver
uniprot_entry
A8K8N1_HUMAN
resolver
uniprot_entry
RN216_HUMAN
resolver
uniprot_sec
Q6Y691
resolver
uniprot_sec
Q75ML7
resolver
uniprot_sec
Q7Z2H7
resolver
uniprot_sec
Q7Z7C1
resolver
uniprot_sec
Q8NHW7
resolver
uniprot_sec
Q9NYT1
resolver
activity_regulation
ACTIVITY REGULATION: Allosterically activated by 'Lys-63'-linked di-ubiquitin. {ECO:0000269|PubMed:34998453}.
uniprot
proteins
amino_acid_sequence
MEEGNNNEEVIHLNNFHCHRGQEWINLRDGPITISDSSDEERIPMLVTPAPQQHEEEDLDDDVILTEDDSEDDYGEFLDLGPPGISEFTKPSGQTEREPKPGPSHNQAANDIVNPRSEQKVIILEEGSLLYTESDPLETQNQSSEDSETELLSNLGESAALADDQAIEEDCWLDHPYFQSLNQQPREITNQVVPQERQPEAELGRLLFQHEFPGPAFPRPEPQQGGISGPSSPQPAHPLGEFEDQQLASDDEEPGPAFPMQESQEPNLENIWGQEAAEVDQELVELLVKETEARFPDVANGFIEEIIHFKNYYDLNVLCNFLLENPDYPKREDRIIINPSSSLLASQDETKLPKIDFFDYSKLTPLDQRCFIQAADLLMADFKVLSSQDIKWALHELKGHYAITRKALSDAIKKWQELSPETSGKRKKRKQMNQYSYIDFKFEQGDIKIEKRMFFLENKRRHCRSYDRRALLPAVQQEQEFYEQKIKEMAEHEDFLLALQMNEEQYQKDGQLIECRCCYGEFPFEELTQCADAHLFCKECLIRYAQEAVFGSGKLELSCMEGSCTCSFPTSELEKVLPQTILYKYYERKAEEEVAAAYADELVRCPSCSFPALLDSDVKRFSCPNPHCRKETCRKCQGLWKEHNGLTCEELAEKDDIKYRTSIEEKMTAARIRKCHKCGTGLIKSEGCNRMSCRCGAQMCYLCRVSINGYDHFCQHPRSPGAPCQECSRCSLWTDPTEDDEKLIEEIQKEAEEEQKRKNGENTFKRIGPPLEKPVEKVQRVEALPRPVPQNLPQPQMPPYAFAHPPFPLPPVRPVFNNFPLNMGPIPAPYVPPLPNVRVNYDFGPIHMPLEHNLPMHFGPQPRHRF
uniprot
proteins
disease_involvement
DISEASE: Gordon Holmes syndrome (GDHS) [MIM:212840]: 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. {ECO:0000269|PubMed:23656588}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
FUNCTION: [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. Also participates 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). {ECO:0000250|UniProtKB:P58283, ECO:0000269|PubMed:15107846, ECO:0000269|PubMed:19893624, ECO:0000269|PubMed:24945773, ECO:0000269|PubMed:25484083, ECO:0000269|PubMed:34998453}.; FUNCTION: [Isoform 3]: Inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis. {ECO:0000269|PubMed:11854271}.
uniprot
proteins
mass_dalton
99406
uniprot
proteins
mutagenesis
MUTAGEN 664; /note="E->A: Abrogates ubiquitin chain formation activity."; /evidence="ECO:0000269|PubMed:34998453"; MUTAGEN 672; /note="I->A: Abrogates ubiquitin chain formation activity."; /evidence="ECO:0000269|PubMed:34998453"; MUTAGEN 683; /note="I->A: Abrogates ubiquitin chain formation activity."; /evidence="ECO:0000269|PubMed:34998453"; MUTAGEN 719; /note="S->A: Mild reduced activity."; /evidence="ECO:0000269|PubMed:34998453
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
post_translational_modification
PTM: Auto-ubiquitinated.; PTM: 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. {ECO:0000269|PubMed:34998453}.
uniprot
proteins
pubmed
11854271
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15107846
uniprot
proteins
pubmed
15367624
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19893624
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23656588
uniprot
proteins
pubmed
24945773
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25484083
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
34998453
uniprot
proteins
pubmed
36631489
uniprot
proteins
sequence_length
866
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:24945773}.
uniprot
proteins