| Written | 2004-06 | Anita Bonné, Eric Schoenmakers, Ad Geurts van Kessel |
| Department of Human Genetics (417), P.O. Box 9101, 6500 HB Nijmegen, The Netherlands |
| Identity |
| Alias_symbol (synonym) | TRC8 |
| RCA1 | |
| HRCA1 | |
| Other alias | TRC8 (translocation in renal carcinoma, chromosome 8 gene) |
| MGC31961 | |
| 8_125443572 | |
| HGNC (Hugo) | RNF139 |
| LocusID (NCBI) | 11236 |
| Atlas_Id | 500 |
| Location | 8q24.13 [Link to chromosome band 8q24] |
| Location_base_pair | Starts at 124474767 and ends at 124488618 bp from pter ( according to hg19-Feb_2009) [Mapping RNF139.png] |
| Fusion genes (updated 2016) | FHIT (3p14.2) / RNF139 (8q24.13) | PTK2 (8q24.3) / RNF139 (8q24.13) | RNF139 (8q24.13) / EIF2A (3q25.1) |
| RNF139 (8q24.13) / FHIT (3p14.2) |
| DNA/RNA |
| Description | The TRC8 gene covers 13.96 kb. The gene contains 2 confirmed introns, 2 of which are alternative. The gene showed similarity to the hereditary basal cell carcinoma/segment polarity gene, 'patched' (PTCH) This similarity involved 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 t(3;8) translocation, TRC8 was found to be fused to FHIT and disrupted within the sterol-sensing domain. In contrast, the FHIT coding region was maintained and expressed. In a series of sporadic renal carcinomas, an acquired TRC8 mutation was identified. By analogy to patched, TRC8 might function as a signaling receptor, and other pathway members, to be defined, are mutation candidates in malignant diseases involving the kidney and thyroid. |
| Protein |
| Description | 664 amino acids |
| Localisation | Plasma membrane |
| Function | 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 |
| Implicated in |
| Note | |
| Entity | t(3;8)(p14.2;q24.1) and hereditary renal cell cancer. |
| Disease | familial renal cell cancer |
| Cytogenetics | Disruption of the gene because of the t(3;8) translocation. |
| Hybrid/Mutated Gene | FHIT/TRC8. Although studies demonstrated that the 3p14.2 breakpoint interrupted the fragile histidine triad gene (FHIT) in its 5-prime noncoding region, several reasons made it unlikely that FHIT is causally related to renal or other malignancies. |
| Bibliography |
| Sonic Hedgehog signalling in the developing and adult brain. |
| Charytoniuk D, Porcel B, Rodríguez Gomez J, Faure H, Ruat M, Traiffort E |
| Journal of physiology, Paris. 2002 ; 96 (1-2) : 9-16. |
| PMID 11755778 |
| Hereditary renal-cell carcinoma associated with a chromosomal translocation. |
| Cohen AJ, Li FP, Berg S, Marchetto DJ, Tsai S, Jacobs SC, Brown RS |
| The New England journal of medicine. 1979 ; 301 (11) : 592-595. |
| PMID 470981 |
| The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8. |
| Gemmill RM, West JD, Boldog F, Tanaka N, Robinson LJ, Smith DI, Li F, Drabkin HA |
| Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (16) : 9572-9577. |
| PMID 9689122 |
| RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination. |
| Lorick KL, Jensen JP, Fang S, Ong AM, Hatakeyama S, Weissman AM |
| Proceedings of the National Academy of Sciences of the United States of America. 1999 ; 96 (20) : 11364-11369. |
| PMID 10500182 |
| Citation |
| This paper should be referenced as such : |
| Bonné, A ; Schoenmakers, EFPMG ; Geurts, van Kessel A |
| TRC8 (translocation in renal carcinoma, chromosome 8 gene) |
| Atlas Genet Cytogenet Oncol Haematol. 2004;8(3):226-227. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/TRC8ID500.html |
| Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Familial clear cell renal cancer |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:20:33 CEST 2017 |
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