Aliases for RNF135 Gene
External Ids for RNF135 Gene
Previous GeneCards Identifiers for RNF135 Gene
The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
GeneCards Summary for RNF135 Gene
RNF135 (Ring Finger Protein 135) is a Protein Coding gene. Diseases associated with RNF135 include Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome and Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb. Among its related pathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Deubiquitination. Gene Ontology (GO) annotations related to this gene include ligase activity and ribonucleoprotein complex binding. An important paralog of this gene is RFPL1.
UniProtKB/Swiss-Prot Summary for RNF135 Gene
E2-dependent E3 ubiquitin-protein ligase that functions as a RIG-I/DDX58 coreceptor in the sensing of viral RNAs in cell cytoplasm and the activation of the antiviral innate immune response (PubMed:19017631, PubMed:19484123, PubMed:21147464, PubMed:23950712, PubMed:28469175, PubMed:31006531). Together with the UBE2D3, UBE2N and UB2V1 E2 ligases, catalyzes the 'Lys-63'-linked polyubiquitination of RIG-I/DDX58 oligomerized on viral RNAs, an essential step in the activation of the RIG-I signaling pathway (PubMed:19017631, PubMed:21147464, PubMed:28469175, PubMed:31006531). Through a ubiquitin-independent parallel mechanism, which consists in bridging RIG-I/DDX58 filaments forming on longer viral RNAs, further activates the RIG-I signaling pathway (PubMed:31006531). This second mechanism that synergizes with the ubiquitin-dependent one would thereby allow an RNA length-dependent regulation of the RIG-I signaling pathway (Probable). Associated with the E2 ligase UBE2N, also constitutively synthesizes unanchored 'Lys-63'-linked polyubiquitin chains that may also activate the RIG-I signaling pathway (PubMed:28469175, PubMed:31006531).