Home Page
Orphanet References omim sequences swissprot Entrez Gene Source
HGNC genecards Ensembl Unigene
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
    DNABack 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
    ZBTB4 17p13.2 zinc finger and BTB domain containing 4 POLR2A 17p13.1 polymerase (RNA) II (DNA directed) polypeptide A, 220kDa TNFSF12 17p13.1 tumor necrosis factor (ligand) superfamily, member 12 TNFSF13 17p13.1 tumor necrosis factor (ligand) superfamily, member 13 SENP3 17p13 tumor necrosis factor (ligand) superfamily, member 13 EIF4A1 17p13.1 eukaryotic translation initiation factor 4A, isoform 1 CD68 17p13.1 CD68 antigen MPDU1 17p13.1-p12 mannose-P-dolichol utilization defect 1 SOX15 17p12.3 SRY (sex determining region Y)-box 15 FXR2 17p13.1 fragile X mental retardation, autosomal homolog 2 SAT2 17p13.2 spermidine/spermine N1-acetyltransferase 2 SHBG 17p13.1 sex hormone-binding globulin ATP1B2 17p13.1 ATPase, Na+/K+ transporting, beta 2 polypeptide TP53 17p13.1 tumor protein p53 (Li-Fraumeni syndrome) FLJ10385 17p13.2 hypothetical protein FLJ10385 EFNB3 17p13.1-p11.2 ephrin-B3 LOC284158 17p13.2 similar to KIAA1503 protein
    RNABack to top
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionauthors
    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 LOCALIZATIONBack to top
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan 1organ 2organ 3organ 4level
    Digestivestomach   highly
    Lymphoid/Immunespleen   highly
    Reproductivefemale systembreastmammary gland highly
    Urinarybladder   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
    PROTEINBack to top
    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 DISORDERSBack to top
    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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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