Ring Finger Protein 139 (RNF139)

RING finger protein 139 is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. The gene showed similarity to the hereditary basal cell carcinoma/segment polarity gene, 'Patched.' This similarity involves 2 regions of 'Patched,' the putative sterol-sensing domain and the second extracellular loop that participates in the binding of Sonic hedgehog (SHH). In the 3;8 translocation, TRC8 was fused to FHIT and disrupted within the sterol-sensing domain. In contrast, the FHIT coding region was maintained and expressed.