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TP53tumor protein p53 |
Known also as: p53; LFS1; TRP53; FLJ92943;
| NCBI Gene ID: | 7157 |
| NCBI Ensembl Id: | ENSG00000141510 |
| MIM Id: (from NCBI OMIM database) | 191170 |
| Species: | Homo sapiens |
| This gene encodes tumor protein p53, which responds to diverse cellular stresses to regulate target genes that induce cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. p53 protein is expressed at low level in normal cells and at a high level in a variety of transformed cell lines, where it's believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing transcription activation, DNA-binding, and oligomerization domains. It is postulated to bind to a p53-binding site and activate expression of downstream genes that inhibit growth and/or invasion, and thus function as a tumor suppressor. Mutants of p53 that frequently occur in a number of different human cancers fail to bind the consensus DNA binding site, and hence cause the loss of tumor suppressor activity. Alterations of this gene occur not only as somatic mutations in human malignancies, but also as germline mutations in some cancer-prone families with Li-Fraumeni syndrome. Multiple p53 variants due to alternative promoters and multiple alternative splicing have been found. These variants encode distinct isoforms, which can regulate p53 transcriptional activity. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
- BREAST CANCER (114480 )
- ESOPHAGEAL CANCER (#133239 )
- BREAST CANCER (114480 )
- ESOPHAGEAL CANCER (#133239 )
| Authors | Title | Journal |
| Raycroft L, Wu HY, Lozano G | Transcriptional activation by wild-type but not transforming mutants of the p53 anti-oncogene. | Science Aug. 31, 1990 |
| Brain R, Jenkins JR | Human p53 directs DNA strand reassociation and is photolabelled by 8-azido ATP. | Oncogene June 1, 1994 |
| Brown L, Ongusaha PP, Kim HG, Nuti S, Mandinova A, Lee JW, Khosravi-Far R, Aaronson SA, Lee SW | CDIP, a novel pro-apoptotic gene, regulates TNFalpha-mediated apoptosis in a p53-dependent manner. | EMBO J July 25, 2007 |
| Ghosh JC, Dohi T, Kang BH, Altieri DC | Hsp60 regulation of tumor cell apoptosis. | J Biol Chem Jan. 22, 2008 |
Last modification of this entry: Oct. 6, 2010.
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