RING finger protein 139 (translocation in renal carcinoma on chromosome 8, RNF139, TRC8)

Function

• tumor suppressor for renal cell carcinoma (putative)
• plays a role in mediating ubiquitination
• signaling receptor
• interacts with VHL
• RING-type zinc finger domain may be essential for ubiquitin ligase activity

Structure

• contains 1 RING-type zinc finger

Compartment

endoplasmic reticulum membrane

Expression

• expressed in testis, placenta, adrenal gland > heart, brain, liver, skeletal muscle, pancreas > lung kidney

Pathology

• defects in RNF139 are a cause of renal cell carcinoma
  • translocation (3;8)(q14.2;q24.1)
  • sporadic renal cell carcinoma, where an acquired mutation in RNF139 results in the duplication of 12 nucleotides in the 5' untranslated region has also been identified

More general terms

• ring finger protein
• transmembrane 12 protein

Database

• OMIM: https://mirror.omim.org/entry/144700
• OMIM: https://mirror.omim.org/entry/603046
• UniProt: http://www.uniprot.org/uniprot/Q8WU17.html