InnateDB Protein
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IDBP-7728.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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RNF216
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Protein Name
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ring finger protein 216
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000374552
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InnateDB Gene
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IDBG-7724 (RNF216)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm.
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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.
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Tissue Specificity |
Ubiquitous, with the highest levels of expression in testis and peripheral blood leukocytes.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
22
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002867
Zinc finger, C6HC-type
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PFAM |
PF01485
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PRINTS |
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PIRSF |
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SMART |
SM00647
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NWF9
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PhosphoSite |
PhosphoSite-Q9NWF9
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TrEMBL |
C9JIV3
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UniProt Splice Variant |
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Entrez Gene |
54476
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UniGene |
Hs.487458
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RefSeq |
NP_996994
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HUGO |
HGNC:21698
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OMIM |
609948
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CCDS |
CCDS34594
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HPRD |
15550
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IMGT |
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EMBL |
AC006483
AC008167
AF228527
AF513717
AF513718
AK000916
AY062174
AY177396
AY177397
AY177398
BC000787
BC063825
BX537406
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GenPept |
AAF36723
AAH00787
AAH63825
AAL38043
AAO60361
AAO60362
AAO60363
AAP47174
AAP47175
AAS07532
BAA91422
CAD97648
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