Homo sapiens Protein: RNF216
Summary
InnateDB Protein IDBP-363145.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RNF216
Protein Name ring finger protein 216
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000404602
InnateDB Gene IDBG-7724 (RNF216)
Protein Structure
UniProt Annotation
Function 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/ZIN inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis. {ECO:0000269PubMed:15107846, ECO:0000269PubMed:19893624}.
Subcellular Localization Cytoplasm.
Disease Associations 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:0000269PubMed:23656588}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous, with the highest levels of expression in testis and peripheral blood leukocytes.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 23 [view]
Protein-Protein 22 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016874 ligase activity
Biological Process
GO:0006915 apoptotic process
GO:0016032 viral process
GO:0032648 regulation of interferon-beta production
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0050691 regulation of defense response to virus by host
GO:0070936 protein K48-linked ubiquitination
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR002867 Zinc finger, C6HC-type
PFAM PF01485
PRINTS
PIRSF
SMART SM00647
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NWF9
PhosphoSite PhosphoSite-Q9NWF9
TrEMBL C9JIV3
UniProt Splice Variant
Entrez Gene 54476
UniGene Hs.487458
RefSeq NP_996999
HUGO HGNC:21698
OMIM 609948
CCDS CCDS34595
HPRD 15550
IMGT
EMBL AC006483 AC008167 AF228527 AF513717 AF513718 AK000916 AY062174 AY177396 AY177397 AY177398 BC000787 BC063825 BX537406
GenPept AAF36723 AAH00787 AAH63825 AAL38043 AAO60361 AAO60362 AAO60363 AAP47174 AAP47175 AAS07532 BAA91422 CAD97648