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FLASH GENE

Symbol

TP53

last update : 03/01/2009

HGNC name	tumor protein p53
HGNC id	11998
Corresponding disease	DEL17P131 chromosome 17p13.1 microdeletion LFS1 Li-Fraumeni syndrome 1
Location	17p13.1
Synonym name	p53 tumor suppressor
	tumor protein p53 (Li-Fraumeni syndrome)
	p53 antigen
	transformation-related protein 53
Synonym symbol(s)	LFS1, TRP53, p53, FLJ92943

DNA

RNA

EXP/sub-loc

PROTEIN

PATHOLOGY

DNA	Back to top

TYPE	functioning gene
STRUCTURE	19.20 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - ABR ,D17S34 - D17S5 ,D17S525 - PFN1 - D17S873 - D17S866 - D17S539 - D17S878 - D17S559 - D17S570 ,D17S877 - TP53 - D17S561 ,D17S537 - cen
Authors	Isomura (94)

Physical map

RNA	Back to top

TRANSCRIPTS	type	messenger

identification	nb exons	type	bp	product
				Protein	kDa	AA	specific expression	authors
TP53	-	-	2640		43.7	393	-	-
2:I9RET	-	splicing	-		-	-	in G0 lymphocytes	-
delta p53	-	splicing	984		-	-	-	Rohaly
	lacking 198 nucleotides located in exons 7, 8 and 9 containing a donor-site-like splice cassette (CACTGGA) within the coding exon 7 (nucleotide 767) containing an acceptor-site-like splice cassette (CACTGGA) within the codong exon 9 (nucleotide 965) conservation of the open reading frame in the junction between the exons 7 and 9

EXPRESSION / SUBCELLULAR LOCALIZATION

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Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ 1 organ 2 organ 3 organ 4 level Digestive stomach       highly Lymphoid/Immune spleen       highly Reproductive female system breast mammary gland   highly Urinary bladder       highly

cell lineage
cell lines	proliferative cells, normal a transformed
fluid/secretion

at STAGE

cell cycle

cell cycle, checkpoint

life cycle

G0 ,division

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

PROTEIN

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PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	core domain which contains the sequence specific of DNA binding proteins
	a loop-sheet-helix motif
	a C terminal tetramerization domain

mono polymer

homomer , dimer , tetramer

HOMOLOGY

interspecies	homolog to dog TP53 (83,42 pc)
	homolog to chimpanzee TP53 (93,12 pc)
	homolog to rattus Tp53 (78,35 pc)

intraspecies

Homologene

FAMILY

p53 family

CATEGORY

DNA associated , transcription factor

basic FUNCTION	required for G1 growth arrest by WAF1 (CDKN1A) following DNA damage or induction of apoptosis
	regulating by its C terminus a G2 checkpoint through cyclin B1
	transcriptional activator through acetylation of transactivation site by CREBBP
	binding MDM2 resulting in transcriptional silencing and ubiquitin/proteasome dependent degradation of p53
	putative teratologic suppressor gene and modulator of TFIIH (GTF2H), associated in nucleotide excision repair
	activator of target genes promoting growth arrest or cell death in response to DNA damage
	inducing CGR11, CGR19
	playing a transcriptional role only in irradiated S phase cells (delta p53)
	attenuating S phase progession via downregulation of cyclin A-cdk activity (delta p53)
	maintaining the ATR-intra-S phase checkpoint to promote coordination repair and replication (delta p53)
	negatively regulates tumor vessel formation and cell growth via the SEMA3F-NRP2 pathway

CELLULAR PROCESS	cell cycle, checkpoint
	cell life, cell death/apoptosis
	nucleotide, repair
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forming homodimer and homotetramer (delta p53)

INTERACTION

DNA	binding to a noncanonical p53-binding sequence in the CD44 promoter

RNA

small molecule

protein	modulator of TFIIH (GTF2H)
	MDM2 binding
	PIN1(interaction dependent on the phosphorylation induced by DNA damage)
	interacting with TP53INP1
	interacting with MAML1
	interacting with SMARCD1 via its tetramerization domain
	interacting with ZBTB2 (Jeon 2009)

cell & other

REGULATION

activated by	ATM in association with 14.3.3 proteins (YWHA*)
	conjugation to UBL1 (SUMO1)
	putative upregulated c-MYC target gene

inhibited by

its interaction with ZBTB2 (Jeon 2009)

other	both activated and repressed by lysine methylation
	deubiquitinated and stabilized by USP10 (Yuan 2010)

ASSOCIATED DISORDERS

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corresponding disease(s)

LFS1 , DEL17P131

related resource

p53 Mutation Database Analysis & Search IARC TP53 Mutation Database: Human somatic and germline TP53 mutations compiled from the literature p53 Mutation in Human Cancer Database of Germline p53 Mutations

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in pancreas and endometrial carcinomas, in Barrett's adenocarcinoma (and esophageal squamous cell carcinoma), in hepatocellular carcinoma with poor prognosis and in Merckel cell carcinoma tumoral   LOH     in both APC and TP53 in colorectal tumors and TP53 only in hepatocellular carcinoma tumoral       loss of function in breast, adrenal, brain tumors tumoral somatic mutation       in basal cell carcinoma (BCC) of the skin tumoral       loss of function biallelic inactivation of derived from two distinct events, the germinative Arg337His mutation and the acquired loss of the entire chromosome 17, in adrenocortical tumor tumoral fusion       TP53/FXR2 fusion protein lacks the ability of wild-type TP53 to function as a transcription factor; TP53/FXR2 gene is the first reported TP53 fusion gene in acute megakaryoblastic leukemia cell (Kanezaki 2006)

Susceptibility

to pancreatic cancer

Variant & Polymorphism

Candidate gene	embryo implantation failure in human
Marker
Therapy target
animal or cellular model	essential role in regulating embryo implantation in mice through LIF transcription regulation