| UniProt Protein Function: | RNF139: E3-ubiquitin ligase; acts as a negative regulator of the cell proliferation through mechanisms involving G2/M arrest and cell death. Required for MHC class I ubiquitination in cells expressing the cytomegalovirus protein US2 before dislocation from the endoplasmic reticulum (ER). Affects SREBP processing by hindering the SREBP/SCAP complex translocation from the ER to the Golgi, thereby reducing SREBF2 target gene expression. Required for INSIG1 ubiquitination. May be required for EIF3 complex ubiquitination. May function as a signaling receptor. Defects in RNF139 may be a cause of renal cell carcinoma (RCC). It is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. A chromosomal aberration involving RNF139 has been found in a lymphoblastoid cell line established from a family with renal cell carcinoma and thyroid carcinoma. Translocation (3;8)(q14.2;q24.1) with FHIT. RNF139 is found to be fused to FHIT and disrupted within the sterol-sensing domain. In contrast, the FHIT coding region is maintained and expressed. Sporadic cases of renal carcinoma, where an acquired mutation in RNF139 results in the duplication of 12 nucleotides in the 5'-UTR, has also been identified.Protein type: Ubiquitin conjugating system; EC 6.3.2.19; Membrane protein, integral; Ligase; Ubiquitin ligase; Membrane protein, multi-pass; EC 6.3.2.-Chromosomal Location of Human Ortholog: 8q24Cellular Component: endoplasmic reticulum; integral to membraneMolecular Function: ligase activity; protease binding; protein binding; receptor activity; small conjugating protein ligase activity; ubiquitin-protein ligase activityBiological Process: negative regulation of cell proliferation; negative regulation of translation; proteasomal ubiquitin-dependent protein catabolic process; protein destabilization; protein polyubiquitination; protein ubiquitination; regulation of protein ubiquitinationDisease: Renal Cell Carcinoma, Nonpapillary |
| UniProt Protein Details: | |
| NCBI Summary: | The protein encoded by this gene 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. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q8WU17 |
| NCBI GenInfo Identifier: | 74760542 |
| NCBI Gene ID: | 11236 |
| NCBI Accession: | Q8WU17.1 |
| UniProt Secondary Accession: | Q8WU17,O75485, Q7LDL3, B3KMD5 |
| UniProt Related Accession: | Q8WU17 |
| Molecular Weight: | 75,994 Da |
| NCBI Full Name: | E3 ubiquitin-protein ligase RNF139 |
| NCBI Synonym Full Names: | ring finger protein 139 |
| NCBI Official Symbol: | RNF139 |
| NCBI Official Synonym Symbols: | RCA1; TRC8; HRCA1 |
| NCBI Protein Information: | E3 ubiquitin-protein ligase RNF139 |
| UniProt Protein Name: | E3 ubiquitin-protein ligase RNF139 |
| UniProt Synonym Protein Names: | RING finger protein 139; Translocation in renal carcinoma on chromosome 8 protein |
| Protein Family: | |
| UniProt Gene Name: | RNF139 |
| UniProt Entry Name: | RN139_HUMAN |
