Homo sapiens tumor protein p53 (TP53), transcript variant 1, mRNA.
| RefSeq Version | NM_000546.4, 187830767 |
| Length | 2586 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens tumor protein p53 (TP53), transcript variant 1, mRNA. |
| Product | cellular tumor antigen p53 isoform a |
| Comment | Summary: 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]. Transcript Variant: This variant (1) is a dominant transcript and encodes isoform a. |
| RefSeq | NP_000537.3 |
| CDS | 198..1379 | Exon (1) | 1..169 | Exon (2) | 1..169 | Exon (3) | 170..271 | Exon (4) | 272..293 | Exon (5) | 294..572 | Exon (6) | 573..756 | Exon (7) | 757..869 | Exon (8) | 870..979 | Exon (9) | 980..1116 | Exon (10) | 1117..1190 | Exon (11) | 1191..1297 | Exon (12) | 1298..2586 |
| Translation | MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGP
DEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAK
SVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHE
RCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELP
PGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPG
GSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD
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| Position | Chain | Variation | Link |
| 87 | + | a, g | dbSNP:17884410 |
| complement(241) | - | , largedeletion | dbSNP:72080481 |
| 260 | + | c, t | dbSNP:1800369 |
| 299 | + | a, c | dbSNP:11575998 |
| 305 | + | a, g | dbSNP:1800370 |
| 336 | + | c, t | dbSNP:1800371 |
| complement(395) | - | , c | dbSNP:66702588 |
| 412 | + | c, g | dbSNP:1042522 |
| complement(413) | - | g, c | dbSNP:56275308 |
| complement(446) | - | t, c | dbSNP:55754907 |
| complement(458..459) | - | , g | dbSNP:66998338 |
| 526 | + | c, g, t | dbSNP:11540654 |
| complement(572) | - | c, a | dbSNP:55863639 |
| complement(572) | - | , ccctcagggcaactgacc | dbSNP:68140816 |
| 583 | + | c, t | dbSNP:137852792 |
| 595 | + | c, t | dbSNP:28934873 |
| 609 | + | c, g | dbSNP:28934875 |
| 610 | + | , c | dbSNP:137852794 |
| 645..656 | + | , acacccccgccc | dbSNP:137852790 |
| 647..656 | + | , acccccgccc | dbSNP:137852791 |
| 648 | + | a, c, t | dbSNP:28934874 |
| 656 | + | c, t | dbSNP:72661116 |
| 657 | + | a, g | dbSNP:137852789 |
| 659 | + | c, t | dbSNP:137852793 |
| complement(708..709) | - | , c | dbSNP:66983534 |
| 721 | + | a, g | dbSNP:28934578 |
| complement(729) | - | , g | dbSNP:68130327 |
| 747 | + | a, g | dbSNP:72661117 |
| complement(764) | - | t, g | dbSNP:55764374 |
| 836 | + | a, t | dbSNP:1800372 |
| 846 | + | a, g | dbSNP:35163653 |
| 863 | + | a, g | dbSNP:72661118 |
| 919 | + | c, t | dbSNP:28934573 |
| 928 | + | a, g | dbSNP:28934572 |
| 930 | + | a, g, t | dbSNP:28934575 |
| 939 | + | c, t | dbSNP:121913342 |
| 940 | + | a, g | dbSNP:11540652 |
| complement(941..942) | - | , t | dbSNP:67185453 |
| 944 | + | g, t | dbSNP:28934571 |
| complement(946..947) | - | , g | dbSNP:67026029 |
| 967 | + | a, t | dbSNP:28934577 |
| 984 | + | a, g | dbSNP:72661119 |
| complement(996) | - | g, a | dbSNP:55832599 |
| complement(1006..1007) | - | , a | dbSNP:67389650 |
| 1014 | + | c, t | dbSNP:121913343 |
| 1015 | + | a, g | dbSNP:28934576 |
| complement(1029) | - | g, c | dbSNP:17849781 |
| 1041 | + | c, t | dbSNP:28934574 |
| complement(1050) | - | t, c | dbSNP:112431538 |
| complement(1059..1060) | - | , a | dbSNP:66546779 |
| complement(1066) | - | t, c | dbSNP:55819519 |
| complement(1093..1094) | - | , g | dbSNP:68000243 |
| 1100 | + | a, g | dbSNP:72661120 |
| 1113 | + | c, t | dbSNP:121913344 |
| complement(1129) | - | t, c | dbSNP:56184981 |
| 1190 | + | a, g | dbSNP:11575996 |
| 1212 | + | a, g | dbSNP:17882252 |
| 1276 | + | c, g | dbSNP:35993958 |
| 1293 | + | g, t | dbSNP:17881470 |
| complement(1329) | - | g, a | dbSNP:80184930 |
| complement(1388) | - | t, g | dbSNP:8065799 |
| 1416 | + | a, t | dbSNP:1042526 |
| 1484 | + | c, t | dbSNP:35919705 |
| complement(1584) | - | t, c | dbSNP:16956880 |
| complement(1688) | - | c, a | dbSNP:79516338 |
| 1693 | + | a, g | dbSNP:34486624 |
| 1707 | + | a, g | dbSNP:17881366 |
| complement(1864) | - | t, c | dbSNP:4968187 |
| 1870 | + | a, g | dbSNP:916131 |
| 1893 | + | c, t | dbSNP:916132 |
| complement(1913..1914) | - | ag, ga | dbSNP:35944977 |
| 1913 | + | c, t | dbSNP:1811095 |
| 1914 | + | c, t | dbSNP:1811096 |
| 1949 | + | , gt | dbSNP:17886358 |
| complement(1974) | - | , g | dbSNP:34607064 |
| complement(1990) | - | , t | dbSNP:66759322 |
| 1992 | + | a, c | dbSNP:17879353 |
| 2013..2014 | + | c, cg, g, ga | dbSNP:1042535 |
| 2014 | + | a, g | dbSNP:1794291 |
| complement(2053) | - | , g | dbSNP:34182553 |
| complement(2152) | - | g, a | dbSNP:77011241 |
| complement(2176..2177) | - | , a | dbSNP:35940853 |
| 2205 | + | a, g | dbSNP:17884306 |
| 2234 | + | c, t | dbSNP:17884586 |
| 2265 | + | a, g | dbSNP:35659787 |
| complement(2315) | - | t, c | dbSNP:55817367 |
| complement(2435..2436) | - | gg, cc | dbSNP:34734132 |
| 2435 | + | c, g | dbSNP:1794292 |
| 2436 | + | c, g | dbSNP:1794293 |
| complement(2449) | - | g, a | dbSNP:114831472 |
| 2554 | + | a, c | dbSNP:78378222 |
| Gene Symbol | TP53 |
| Gene Synonym | FLJ92943; LFS1; P53; TRP53 |
| Chromosome | 17 |
| Locus Map | 17p13.1 |
| All Transcripts | NM_000546 , NM_001126112 , NM_001126113 , NM_001126114 , NM_001126115 , NM_001126116 , NM_001126117 |
| Title | p53 regulates biosynthesis through direct inactivation of glucose-6-phosphate dehydrogenase . |
| Author | Jiang,P., Du,W., Wang,X., Mancuso,A., Gao,X., Wu,M. and Yang,X. |
| Journal | Nat. Cell Biol. 13 (3), 310-316 (2011) |
| Title | A sensitive and specific diagnostic panel to distinguish diffuse astrocytoma from astrocytosis: chromosome 7 gain with mutant isocitrate dehydrogenase 1 and p53 . |
| Author | Camelo-Piragua,S., Jansen,M., Ganguly,A., Kim,J.C., Cosper,A.K., Dias-Santagata,D., Nutt,C.L., Iafrate,A.J. and Louis,D.N. |
| Journal | J. Neuropathol. Exp. Neurol. 70 (2), 110-115 (2011) |
| Title | P53, p21, and p73 gene polymorphisms in gastric carcinoma . |
| Author | Shirai,O., Ohmiya,N., Taguchi,A., Nakamura,M., Kawashima,H., Miyahara,R., Itoh,A., Hirooka,Y., Watanabe,O., Ando,T., Goto,Y., Hamajima,N. and Goto,H. |
| Journal | Hepatogastroenterology 57 (104), 1595-1601 (2010) |
| Title | The SWI/SNF chromatin remodeling subunit BRG1 is a critical regulator of p53 necessary for proliferation of malignant cells . |
| Author | Naidu,S.R., Love,I.M., Imbalzano,A.N., Grossman,S.R. and Androphy,E.J. |
| Journal | Oncogene 28 (27), 2492-2501 (2009) |
| Title | Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins? . |
| Author | Anczukow,O., Ware,M.D., Buisson,M., Zetoune,A.B., Stoppa-Lyonnet,D., Sinilnikova,O.M. and Mazoyer,S. |
| Journal | Hum. Mutat. 29 (1), 65-73 (2008) |
| Title | p53 Family isoforms . |
| Author | Bourdon,J.C. |
| Journal | Curr Pharm Biotechnol 8 (6), 332-336 (2007) |
| Title | p53/p63/p73 isoforms: an orchestra of isoforms to harmonise cell differentiation and response to stress . |
| Author | Murray-Zmijewski,F., Lane,D.P. and Bourdon,J.C. |
| Journal | Cell Death Differ. 13 (6), 962-972 (2006) |
| Title | p53 isoforms can regulate p53 transcriptional activity . |
| Author | Bourdon,J.C., Fernandes,K., Murray-Zmijewski,F., Liu,G., Diot,A., Xirodimas,D.P., Saville,M.K. and Lane,D.P. |
| Journal | Genes Dev. 19 (18), 2122-2137 (2005) |
| Title | Properties of p53 mutations detected in primary and secondary cervical cancers suggest mechanisms of metastasis and involvement of environmental carcinogens . |
| Author | Crook,T. and Vousden,K.H. |
| Journal | EMBO J. 11 (11), 3935-3940 (1992) |
| Title | A novel mutation in the p53 gene in a Burkitt's lymphoma cell line . |
| Author | Bhatia,K., Gutierrez,M.I. and Magrath,I.T. |
| Journal | Hum. Mol. Genet. 1 (3), 207-208 (1992) |
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