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 Macrocephaly, Macrosomia, And Facial Dysmorphism Syndrome and Myopathy Of Extraocular Muscle. Among its related pathways are Metabolism of proteins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and ribonucleoprotein complex binding.
UniProtKB/Swiss-Prot for RNF135 Gene
Acts as an E2-dependent E3 ubiquitin-protein ligase, involved in innate immune defense against viruses. Ubiquitinates DDX58 and is required for full activation of the DDX58 signaling resulting in interferon beta production.