Aliases for RNF135 Gene
External Ids 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 overgrowth - macrocephaly - facial dysmorphism. Among its related pathways are Cytosolic sensors of pathogen-associated DNA and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. GO annotations related to this gene include ubiquitin-protein transferase 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.