TP53 - tumor protein p53 (Li-Fraumeni syndrome)

Human Kidney Gene DataBase

Name

tumor protein p53 (Li-Fraumeni syndrome)

Symbol

TP53

Aliases

P53; p53; TRP53

Gene Product

tumor protein p53

Category

Deletion in Kidney Neoplasms
Mutation in Kidney Neoplasms

UniGene

Hs.408312

Reference Sequence

mRNA: NM_000546

Protein: NP_000537

OMIM and SNP

OMIM: 191170

SNP: NCBI SNP

Locus

LocusLink: 7157

Chromosome: 17

Cytoband: 17p13.1

UCSC Genome Map

Eesembl Genome Map

Summary

Tumor protein p53, a nuclear protein, plays an essential role in the regulation of cell cycle, specifically in the transition from G0 to G1. It is found in very low levels in normal cells, however, in a variety of transformed cell lines, it is expressed in high amounts, and believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing DNA-binding, oligomerization and transcription activation domains. It is postulated to bind as a tetramer 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 the TP53 gene occur not only as somatic mutations in human malignancies, but also as germline mutations in some cancer-prone families with Li-Fraumeni syndrome.

Gene Ontology

cellular component: nucleus
molecular function: transcription factor activity
molecular function: nuclease activity
biological process: negative regulation of cell cycle
biological process: regulation of transcription, DNA-dependent
biological process: apoptosis
biological process: DNA repair
biological process: induction of apoptosis by hormones
biological process: cell cycle checkpoint
biological process: DNA recombination
biological process: DNA damage response, signal transduction resulting in induction of apoptosis

Expression

EST (296 ESTs, 154 libraries)
Tissue	Breadth ?	CPM ?
blood
bone
brain
cervix
colon
embryo
eye
germ cell
head and neck
kidney
liver
lung
lymph node
mammary gland
muscle
nervous
oral cavity
ovary
placenta
prostate
skin
stomach
testis
thymus
thyroid
uncharacterized tissue
uterus
vascular

Evidence

Deletion in Kidney Neoplasms

Yoshioka K, Nakamura S Chromosome 9 and 17 aberrations and p53 gene deletion detected byfluorescence in situ hybridization in renal-cell carcinoma. Mol Urol 2001 Spring;5(1):11-7.

Mutation in Kidney Neoplasms

Hsueh C, Wang H, Gonzalez-Crussi F, Lin JN, Hung IJ, Yang CP, Jiang TH, Hsueh C, Wang H, Gonzalez-Crussi F, Lin JN, Hung IJ, Yang CP, Jiang TH Infrequent p53 gene mutations and lack of p53 protein expression in clearcell sarcoma of the kidney: immunohistochemical study and mutationanalysis of p53 in renal tumors of unfavorable prognosis. Mod Pathol 2002 Jun;15(6):606-10.
Girgin C, Tarhan H, Hekimgil M, Sezer A, Gurel G P53 mutations and other prognostic factors of renal cell carcinoma. Urol Int 2001;66(2):78-83.
Kawasaki T, Bilim V, Takahashi K, Tomita Y Infrequent alteration of p53 pathway in metastatic renal cell carcinoma. Oncol Rep 1999 Mar-Apr;6(2):329-33.
Kuwahara M, Fujisaki N, Kagawa S, Furihata M, Ohtsuki Y Determination of p53 protein and high-risk human papillomavirus DNA incarcinomas of the renal pelvis and ureter. Int J Mol Med 1998 Apr;1(4):703-7.
Bringuier PP, McCredie M, Sauter G, Bilous M, Stewart J, Mihatsch MJ, Kleihues P, Ohgaki H, Bringuier PP, McCredie M, Sauter G, Bilous M, Stewart J, Mihatsch MJ, Kleihues P, Ohgaki H Carcinomas of the renal pelvis associated with smoking and phenacetinabuse: p53 mutations and polymorphism of carcinogen-metabolising enzymes. Int J Cancer 1998 Oct 23;79(5):531-6.
Dahiya R, Deng G, Selph C, Carroll P, Presti J Jr, Dahiya R, Deng G, Selph C, Carroll P, Presti J Jr A novel p53 mutation hotspot at codon 132 (AAG-->AGG) in human renalcancer. Biochem Mol Biol Int 1998 Feb;44(2):407-15.
Roth S, Partanen T, Suitiala T, Anttila S, Ojajarvi A, Hemminki K, Vainio H, Husgafvel-Pursiainen K Molecular analysis of occupational cancer: infrequent p53 and rasmutations in renal-cell cancer in workers exposed to gasoline. Int J Cancer 1997 Nov 14;73(4):492-6.
Contractor H, Zariwala M, Bugert P, Zeisler J, Kovacs G, Contractor H, Zariwala M, Bugert P, Zeisler J, Kovacs G Mutation of the p53 tumour suppressor gene occurs preferentially in thechromophobe type of renal cell tumour. J Pathol 1997 Feb;181(2):136-9.
Furihata M, Sonobe H, Ohtsuki Y, Yamashita M, Morioka M, Yamamoto A, Terao N, Kuwahara M, Fujisaki N Detection of p53 and bcl-2 protein in carcinoma of the renal pelvis andureter including dysplasia. J Pathol 1996 Feb;178(2):133-9.
Furihata M, Yamasaki I, Ohtsuki Y, Sonobe H, Morioka M, Yamamoto A, Terao N, Kuwahara M, Fujisaki N p53 and human papillomavirus DNA in renal pelvic and ureteral carcinomaincluding dysplastic lesions. Int J Cancer 1995 Oct 20;64(5):298-303.
Oda H, Nakatsuru Y, Ishikawa T Mutations of the p53 gene and p53 protein overexpression are associatedwith sarcomatoid transformation in renal cell carcinomas. Cancer Res 1995 Feb 1;55(3):658-62.
Uhlman DL, Nguyen PL, Manivel JC, Aeppli D, Resnick JM, Fraley EE, Zhang G, Niehans GA Association of immunohistochemical staining for p53 with metastaticprogression and poor survival in patients with renal cell carcinoma. J Natl Cancer Inst 1994 Oct 5;86(19):1470-5.
Imai Y, Strohmeyer TG, Fleischhacker M, Slamon DJ, Koeffler HP, Imai Y, Strohmeyer TG, Fleischhacker M, Slamon DJ, Koeffler HP, Imai Y, Strohmeyer TG, Fleischhacker M, Slamon DJ, Koeffler HP p53 mutations and MDM-2 amplification in renal cell cancers. Mod Pathol 1994 Sep;7(7):766-70.
Suzuki Y, Tamura G, Suzuki Y, Tamura G, Suzuki Y, Tamura G Mutations of the p53 gene in carcinomas of the urinary system. Acta Pathol Jpn 1993 Dec;43(12):745-50.
Reiter RE, Anglard P, Liu S, Gnarra JR, Linehan WM, Reiter RE, Anglard P, Liu S, Gnarra JR, Linehan WM Chromosome 17p deletions and p53 mutations in renal cell carcinoma. Cancer Res 1993 Jul 1;53(13):3092-7.
Suzuki Y, Tamura G, Satodate R, Fujioka T, Suzuki Y, Tamura G, Satodate R, Fujioka T Infrequent mutation of p53 gene in human renal cell carcinoma detected bypolymerase chain reaction single-strand conformation polymorphismanalysis. Jpn J Cancer Res 1992 Mar;83(3):233-5.
Torigoe S, Shuin T, Kubota Y, Horikoshi T, Danenberg K, Danenberg PV, Torigoe S, Shuin T, Kubota Y, Horikoshi T, Danenberg K, Danenberg PV, Torigoe S, Shuin T, Kubota Y, Horikoshi T, Danenberg K, Danenberg PV p53 gene mutation in primary human renal cell carcinoma. Oncol Res 1992;4(11-12):467-72.
Kawaguchi K, Oda Y, Nakanishi K, Saito T, Tamiya S, Nakahara K, Matsuoka H, Tsuneyoshi M Malignant transformation of renal angiomyolipoma: a case report. Am J Surg Pathol 2002 Apr;26(4):523-9.
Bardeesy N, Beckwith JB, Pelletier J Clonal expansion and attenuated apoptosis in Wilms' tumors are associatedwith p53 gene mutations. Cancer Res 1995 Jan 15;55(2):215-9.

Other key publications related to this gene