RNF10 Gene: Function, Expression, Mutations, and Disease Links | Biomedical SEO

RNF10 (Ring Finger Protein 10) is a protein-coding gene located on chromosome 12q24.31. It encodes a 611-amino acid protein that contains a C3HC4-type RING finger domain and two C2H2-type zinc finger domains, characteristic of E3 ubiquitin ligases. RNF10 is involved in multiple cellular processes, including Schwann cell myelination, neuronal survival, stress granule formation, and regulation of the Wnt signaling pathway. It is widely expressed in various tissues, with highest levels in the nervous system and skeletal muscle. RNF10 has been implicated in several diseases, including Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, and various cancers, where it may act as a tumor suppressor or oncogene depending on context.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Ubiquitin-mediated proteolysis (KEGG hsa04120)

• Wnt signaling pathway (KEGG hsa04310)

• p53 signaling pathway (KEGG hsa04115) - indirect via ubiquitination

• Protein processing in endoplasmic reticulum (KEGG hsa04141)

The RNF10 protein is a 611-amino acid E3 ubiquitin ligase containing a RING finger domain and two C2H2 zinc finger domains. It is localized in the nucleus and cytoplasm, and also associates with stress granules. RNF10 plays a critical role in Schwann cell myelination by regulating the expression of myelin genes. It also modulates stress granule formation, which is important for neuronal survival under stress conditions. In cancer, RNF10 can either promote or suppress tumorigenesis depending on the cellular context, partly through its regulation of Wnt signaling and p53 stability. Post-translational modifications, such as phosphorylation, may regulate its activity.