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, Facial Dysmorphism Syndrome and Myopathy Of Extraocular Muscle. Among its related pathways are Immune System and Cytosolic sensors of pathogen-associated DNA. 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.