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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TP53 Gene

protein-coding   GIFtS: 81
GCID: GC17M007565

Tumor Protein P53

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 5

Aliases
Tumor Protein P531 2     BCC72
P532 3 5     TRP532
Antigen NY-CO-132 3     Cellular Tumor Antigen P532
Phosphoprotein P532 3     P53 Tumor Suppressor2
LFS12 5     Transformation-Related Protein 532
Li-Fraumeni Syndrome1     Tumor Suppressor P533

External Ids:    HGNC: 119981   Entrez Gene: 71572   Ensembl: ENSG000001415107   OMIM: 1911705   UniProtKB: P046373   
ORGUL members:    fRNAdb10:FR343586 FR325937      
H-InvDB12:HIT000195796    
NCBI13:U58658 M55576    
NONCODE14:n335267 n337087 n343020      
RNAdb15:LIT1750 HIV2718    

Export aliases for TP53 gene to outside databases

Previous GC identifers: GC17P008026 GC17M008311 GC17M007514 GC17M007772 GC17M007512 GC17M007465


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TP53 Gene:
This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and
oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of
target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism.
Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as
Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple
transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate
translation initiation codons (PMIDs: 12032546, 20937277). (provided by RefSeq, Feb 2013)

GeneCards Summary for TP53 Gene: 
TP53 (tumor protein p53) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with TP53 include li-fraumeni syndrome, and adrenocortical carcinoma, and among its related super-pathways are Glioma and Endometrial cancer. GO annotations related to this gene include identical protein binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TP73.

UniProtKB/Swiss-Prot: P53_HUMAN, P04637
Function: Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the
physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to
negatively regulate cell division by controlling a set of genes required for this process. One of the activated
genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation
of BAX and FAS antigen expression, or by repression of Bcl-2 expression. In cooperation with mitochondrial PPIF
is involved in activating oxidative stress-induced necrosis; the function is largely independent of
transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1.
LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seem to have to
effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when
associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Isoform 2 enhances the
transactivation activity of isoform 1 from some but not all TP53-inducible promoters. Isoform 4 suppresses
transactivation activity and impairs growth suppression mediated by isoform 1. Isoform 7 inhibits isoform
1-mediated apoptosis

summary for TP53 Gene:
p53 (aka TP53) is a transcription factor whose protein levels and post-translational modification state
alter in response to cellular stress (such as DNA damage, hypoxia, spindle damage). Activation of p53 begins
through a number of mechanisms including phosphorylation by ATM, ATR, Chk1 and MAPKs. MDM2 is a ubiquitn
ligase that binds p53 and targets p53 for proteasomal degradation. Phosphorylation, p14ARF and USP7 prevent
MDM2-p53 interactions, leading to an increase in stable p53 tetramers in the cytoplasm. Further
modifications such as methylation and acetylation lead to an increase in p53 binding to gene specific
response elements. p53 regulates a large number of genes (>100 genes) that control a number of key tumor
suppressing functions such as cell cycle arrest, DNA repair, senescence and apoptosis. Whilst the activation
of p53 often leads to apoptosis, p53 inactivation facilitates tumor progression; inactivating p53 mutations
occur in over 50% of cancers.

Gene Wiki entry for TP53 (P53) Gene

fRNAdb sequence ontologies for TP53 - the ORGUL cluster for this gene includes several descriptions:
intron - A region of a primary transcript that is transcribed, but removed from within the transcript by splicing together the sequences (exons) on either side of it.
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for TP53

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TP53 gene promoter:
         CREB   C/EBPbeta   Sp1   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): TP53 promoter sequence
   Search SABiosciences Chromatin IP Primers for TP53

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TP53


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

TP53 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TP53 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M007565:  view genomic region     (about GC identifiers)

Start:
7,565,097 bp from pter      End:
7,590,863 bp from pter
Size:
25,767 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for TP53

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: P53_HUMAN, P04637 (See protein sequence)
Recommended Name: Cellular tumor antigen p53  
Size: 393 amino acids; 43653 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Interacts with AXIN1. Probably part of a complex consisting of TP53, HIPK2 and AXIN1 (By similarity).
Binds DNA as a homotetramer. Interacts with histone acetyltransferases EP300 and methyltransferases HRMT1L2 and
CARM1, and recruits them to promoters. In vitro, the interaction of TP53 with cancer-associated/HPV (E6) viral
proteins leads to ubiquitination and degradation of TP53 giving a possible model for cell growth regulation. This
complex formation requires an additional factor, E6-AP, which stably associates with TP53 in the presence of E6.
Interacts (via C-terminus) with TAF1; when TAF1 is part of the TFIID complex. Interacts with ING4; this
interaction may be indirect. Found in a complex with CABLES1 and TP73. Interacts with HIPK1, HIPK2, and TP53INP1.
Interacts with WWOX. May interact with HCV core protein. Interacts with USP7 and SYVN1. Interacts with HSP90AB1.
Interacts with CHD8; leading to recruit histone H1 and prevent transactivation activity (By similarity).
Interacts with ARMC10, BANP, CDKN2AIP, NUAK1, STK11/LKB1, UHRF2 and E4F1. Interacts with YWHAZ; the interaction
enhances TP53 transcriptional activity. Phosphorylation of YWHAZ on 'Ser-58' inhibits this interaction. Interacts
(via DNA-binding domain) with MAML1 (via N-terminus). Interacts with MKRN1. Interacts with PML (via C-terminus).
Interacts with MDM2; leading to ubiquitination and proteasomal degradation of TP53. Directly interacts with
FBXO42; leading to ubiquitination and degradation of TP53. Interacts (phosphorylated at Ser-15 by ATM) with the
phosphatase PP2A-PPP2R5C holoenzyme; regulates stress-induced TP53-dependent inhibition of cell proliferation.
Interacts with PPP2R2A. Interacts with AURKA, DAXX, BRD7 and TRIM24. Interacts (when monomethylated at Lys-382)
with L3MBTL1. Isoform 1 interacts with isoform 2 and with isoform 4. Interacts with GRK5. Binds to the CAK
complex (CDK7, cyclin H and MAT1) in response to DNA damage. Interacts with CDK5 in neurons. Interacts with
AURKB, UHRF2 and NOC2L. Interacts (via N-terminus) with PTK2/FAK1; this promotes ubiquitination by MDM2.
Interacts with PTK2B/PYK2; this promotes ubiquitination by MDM2. Interacts with PRKCG. Interacts with PPIF; the
association implicates preferentially tetrameric TP53, is induced by oxidative stress and is impaired by
cyclosporin A (CsA). Interacts with human cytomegalovirus/HHV-5 protein UL123. Interacts with SNAI1; the
interaction induces SNAI1 degradation via MDM2-mediated ubiquitination and inhibits SNAI1-induced cell invasion.
Interacts with KAT6A. Interacts with UBC9. Interacts with ZNF385B; the interaction is direct. Interacts (via
DNA-binding domain) with ZNF385A; the interaction is direct and enhances p53/TP53 transactivation functions on
cell-cycle arrest target genes, resulting in growth arrest
Subcellular location: Cytoplasm. Nucleus. Nucleus, PML body. Endoplasmic reticulum. Mitochondrion matrix.
Note=Interaction with BANP promotes nuclear localization. Recruited into PML bodies together with CHEK2.
Translocates to mitochondria upon oxidative stress
Subcellular location: Isoform 1: Nucleus. Cytoplasm. Note=Predominantly nuclear but localizes to the cytoplasm
when expressed with isoform 4
Subcellular location: Isoform 2: Nucleus. Cytoplasm. Note=Localized mainly in the nucleus with minor staining in
the cytoplasm
Subcellular location: Isoform 3: Nucleus. Cytoplasm. Note=Localized in the nucleus in most cells but found in the
cytoplasm in some cells
Subcellular location: Isoform 4: Nucleus. Cytoplasm. Note=Predominantly nuclear but translocates to the cytoplasm
following cell stress
Subcellular location: Isoform 7: Nucleus. Cytoplasm. Note=Localized mainly in the nucleus with minor staining in
the cytoplasm
Subcellular location: Isoform 8: Nucleus. Cytoplasm. Note=Localized in both nucleus and cytoplasm in most cells.
In some cells, forms foci in the nucleus that are different from nucleoli
Subcellular location: Isoform 9: Cytoplasm
6/103 PDB 3D structures from and Proteopedia for TP53 (see all 103):
1A1U (3D)        1AIE (3D)        1C26 (3D)        1DT7 (3D)        1GZH (3D)        1H26 (3D)    
Secondary accessions: Q15086 Q15087 Q15088 Q16535 Q16807 Q16808 Q16809 Q16810 Q16811 Q16848
Q2XN98 Q3LRW1 Q3LRW2 Q3LRW3 Q3LRW4 Q3LRW5 Q86UG1 Q8J016 Q99659 Q9BTM4 Q9HAQ8 Q9NP68 Q9NPJ2
Q9NZD0 Q9UBI2 Q9UQ61
Alternative promoter usage, Alternative splicing: 9 isoforms:  P04637-1   P04637-2   P04637-3   P04637-4   P04637-5   P04637-6   P04637-7   P04637-8   
P04637-9   (Produced by alternative promoter usage and alternative splicing)

Explore the universe of human proteins at neXtProt for TP53: NX_P04637

Explore proteomics data for TP53 at MOPED 

Post-translational modifications:

  • UniProtKB: Acetylated. Acetylation of Lys-382 by CREBBP enhances transcriptional activity. Deacetylation of Lys-382 by SIRT1
    impairs its ability to induce proapoptotic program and modulate cell senescence
  • UniProtKB: Phosphorylation on Ser residues mediates transcriptional activation. Phosphorylated by HIPK1 (By similarity).
    Phosphorylation at Ser-9 by HIPK4 increases repression activity on BIRC5 promoter. Phosphorylated on Thr-18 by
    VRK1. Phosphorylated on Ser-20 by CHEK2 in response to DNA damage, which prevents ubiquitination by MDM2.
    Phosphorylated on Ser-20 by PLK3 in response to reactive oxygen species (ROS), promoting p53/TP53-mediated
    apoptosis. Phosphorylated on Thr-55 by TAF1, which promotes MDM2-mediated degradation. Phosphorylated on Ser-33
    by CDK7 in a CAK complex in response to DNA damage. Phosphorylated on Ser-46 by HIPK2 upon UV irradiation.
    Phosphorylation on Ser-46 is required for acetylation by CREBBP. Phosphorylated on Ser-392 following UV but not
    gamma irradiation. Phosphorylated on Ser-15 upon ultraviolet irradiation; which is enhanced by interaction with
    BANP. Phosphorylated by NUAK1 at Ser-15 and Ser-392; was intially thought to be mediated by STK11/LKB1 but it was
    later shown that it is indirect and that STK11/LKB1-dependent phosphorylation is probably mediated by downstream
    NUAK1 (PubMed:21317932). It is unclear whether AMP directly mediates phosphorylation at Ser-15. Phosphorylated on
    Thr-18 by isoform 1 and isoform 2 of VRK2. Phosphorylation on Thr-18 by isoform 2 of VRK2 results in a reduction
    in ubiquitination by MDM2 and an increase in acetylation by EP300. Stabilized by CDK5-mediated phosphorylation in
    response to genotoxic and oxidative stresses at Ser-15, Ser-33 and Ser-46, leading to accumulation of p53/TP53,
    particularly in the nucleus, thus inducing the transactivation of p53/TP53 target genes. Phosphorylated by DYRK2
    at Ser-46 in response to genotoxic stress. Phosphorylated at Ser-315 and Ser-392 by CDK2 in response to
    DNA-damage
  • UniProtKB: Dephosphorylated by PP2A-PPP2R5C holoenzyme at Thr-55. SV40 small T antigen inhibits the dephosphorylation by the
    AC form of PP2A
  • UniProtKB: May be O-glycosylated in the C-terminal basic region. Studied in EB-1 cell line
  • UniProtKB: Ubiquitinated by MDM2 and SYVN1, which leads to proteasomal degradation. Ubiquitinated by RFWD3, which works in
    cooperation with MDM2 and may catalyze the formation of short polyubiquitin chains on p53/TP53 that are not
    targeted to the proteasome. Ubiquitinated by MKRN1 at Lys-291 and Lys-292, which leads to proteasomal
    degradation. Deubiquitinated by USP10, leading to its stabilization. Ubiquitinated by TRIM24, which leads to
    proteasomal degradation. Ubiquitination by TOPORS induces degradation. Deubiquitination by USP7, leading to
    stabilization. Isoform 4 is monoubiquitinated in an MDM2-independent manner
  • UniProtKB: Monomethylated at Lys-372 by SETD7, leading to stabilization and increased transcriptional activation.
    Monomethylated at Lys-370 by SMYD2, leading to decreased DNA-binding activity and subsequent transcriptional
    regulation activity. Lys-372 monomethylation prevents interaction with SMYD2 and subsequent monomethylation at
    Lys-370. Dimethylated at Lys-373 by EHMT1 and EHMT2. Monomethylated at Lys-382 by SETD8, promoting interaction
    with L3MBTL1 and leading to repress transcriptional activity. Dimethylation at Lys-370 and Lys-382 diminishes p53
    ubiquitination, through stabilizing association with the methyl reader PHF20. Demethylation of dimethylated
    Lys-370 by KDM1A prevents interaction with TP53BP1 and represses TP53-mediated transcriptional activation
  • UniProtKB: Sumoylated with SUMO1. Sumoylated at Lys-386 by UBC9
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P04637

  • TP53 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TP53 Protein Expression
    REFSEQ proteins (15 alternative transcripts): 
    NP_000537.3  NP_001119584.1  NP_001119585.1  NP_001119586.1  NP_001119587.1  NP_001119588.1  NP_001119589.1  NP_001119590.1  
    NP_001263624.1  NP_001263625.1  NP_001263626.1  NP_001263627.1  NP_001263628.1  NP_001263689.1  NP_001263690.1  

    ENSEMBL proteins: 
     ENSP00000410739   ENSP00000352610   ENSP00000269305   ENSP00000398846   ENSP00000391127  
     ENSP00000391478   ENSP00000458393   ENSP00000425104   ENSP00000423862   ENSP00000424104  
     ENSP00000473895   ENSP00000426252  
    Reactome Protein details: P04637
    Human Recombinant Protein Products for TP53: 
    EMD Millipore Purified and/or Recombinant TP53 Protein
    R&D Systems Recombinant & Natural Proteins for TP53 (p53)
    Enzo Life Sciences proteins for TP53
    OriGene Purified Proteins for TP53
    OriGene Protein Over-expression Lysate for TP53
    OriGene MassSpec for TP53 
    OriGene Custom Protein Services for TP53
    GenScript Custom Purified and Recombinant Proteins Services for TP53
    Novus Biologicals TP53 Proteins
    Novus Biologicals TP53 Lysates
    Sino Biological Recombinant Protein for TP53
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for TP53
    Cloud-Clone Corp. Proteins for TP53 

    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin IBA--
    GO:0000790nuclear chromatin IDA15710329
    GO:0005634nucleus IDA14744935
    GO:0005654nucleoplasm TAS--
    GO:0005657replication fork IBA--

    TP53 for ontologies           About GeneDecksing



    TP53 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of TP53
    R&D Systems Antibodies for TP53 (p53)
    Cell Signaling Technology (CST) Antibodies for TP53  (p53)
    OriGene Antibodies for TP53
    OriGene Custom Antibody Services for TP53
    GenScript Superior Antibodies for TP53
    Novus Biologicals TP53 Antibodies
    Abcam antibodies for TP53
    Cloud-Clone Corp. Antibodies for TP53 
    ThermoFisher Antibody for TP53
    LSBio Antibodies in human, mouse, rat for TP53 

    Assay Products for TP53: 
    EMD Millipore Kits and Assays for the Analysis of TP53
    OriGene Custom Assay Services for TP53
    R&D Systems ELISAs for TP53 (p53)         (see all)
    GenScript Custom Assay Services for TP53
    Cell Signaling Technology (CST) Sandwich ELISA Kits for TP53 (p53)
    Enzo Life Sciences assays for TP53
    Cloud-Clone Corp. ELISAs for TP53 
    Cloud-Clone Corp. CLIAs for TP53


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR011615 p53_DNA-bd
     IPR010991 p53_tetrameristn
     IPR012346 p53/RUNT-type_TF_DNA-bd
     IPR002117 p53_tumour_suppressor
     IPR008967 p53-like_TF_DNA-bd

    Graphical View of Domain Structure for InterPro Entry P04637

    ProtoNet protein and cluster: P04637

    1 Blocks protein domain: IPB010991 p53

    UniProtKB/Swiss-Prot: P53_HUMAN, P04637
    Domain: The nuclear export signal acts as a transcriptional repression domain. The TADI and TADII motifs (residues
    17 to 25 and 48 to 56) correspond both to 9aaTAD motifs which are transactivation domains present in a large
    number of yeast and animal transcription factors
    Similarity: Belongs to the p53 family


    TP53 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: P53_HUMAN, P04637
    Function: Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the
    physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to
    negatively regulate cell division by controlling a set of genes required for this process. One of the activated
    genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation
    of BAX and FAS antigen expression, or by repression of Bcl-2 expression. In cooperation with mitochondrial PPIF
    is involved in activating oxidative stress-induced necrosis; the function is largely independent of
    transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1.
    LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seem to have to
    effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when
    associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Isoform 2 enhances the
    transactivation activity of isoform 1 from some but not all TP53-inducible promoters. Isoform 4 suppresses
    transactivation activity and impairs growth suppression mediated by isoform 1. Isoform 7 inhibits isoform
    1-mediated apoptosis
    Induction: Up-regulated in response to DNA damage. Isoform 2 is not induced in tumor cells in response to stress

         Genatlas biochemistry entry for TP53:
    tumor suppressor protein p53 required for G1 growth arrest by WAF1 (CDKN1A),following DNA damage or induction of
    apoptosis,also regulating 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,activated by conjugation to UBL1 (SUMO1),putative up-regulated c-MYC target
    gene,putative teratologic suppressor gene and modulator of TFIIH (GTF2H),associated in nucleotide excision
    repair,activated by ATM in association with 14.3.3 proteins (YWHA*),tumor suppressor gene (see TSG17A),mutated in
    cancers such as pancreas and endometrial carcinomas,in Barrett's adenocarcinoma (and esophageal squamous cell
    carcinoma),in hepatocellular carcinoma with poor prognosis

         Gene Ontology (GO): 5/28 molecular function terms (GO ID links to tree view) (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0001085RNA polymerase II transcription factor binding IPI18549481
    GO:0001228RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA17146433
    GO:0002020protease binding IPI11923872
    GO:0002039p53 binding IBA--
         
    TP53 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for TP53:
     Decreased viability of wild-ty  Enable proliferation in B-Raf   Increased cell death HMECs cel  Increased resistance to MDM2 i 

         15/27 MGI mutant phenotypes (inferred from 65 alleles(MGI details for Trp53) (see all 27):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    TP53 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TP53: Trp53tm1Mlh Trp53tm3Wahl Trp53tm5Wahl Trp53tm2Wahl Trp53tm1Tyj Trp53tm1Mok
                                                         Trp53tm1.1Brn Trp53tm1Brd Trp53tm1Sia

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TP53 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TP53

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TP53 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TP53 

    10/1911 SABiosciences Target genes for TP53 (see all 1911):
    AATF ABCC3 ABCC6P2 ABCD1 ABCF1 ABHD12 ABHD15 ABHD4 ABHD8 ABTB2

    miRNA
    Products:
        
    miRTarBase miRNAs that target TP53:
    hsa-mir-1285 (MIRT005474), hsa-mir-16 (MIRT005764), hsa-mir-125a-5p (MIRT004071), hsa-mir-25 (MIRT005417), hsa-mir-221 (MIRT005785), hsa-mir-15a (MIRT005763), hsa-mir-612 (MIRT005476), hsa-mir-222 (MIRT005786), hsa-mir-125b (MIRT000535), hsa-mir-30d (MIRT005418)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TP53
    17 QIAGEN miScript miRNA Assays for microRNAs that regulate TP53 (see first 8):
    hsa-miR-576-3p hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7g hsa-let-7a hsa-miR-98 hsa-miR-22
    hsa-miR-3163 hsa-miR-561 hsa-let-7i hsa-let-7e hsa-let-7b hsa-let-7f hsa-miR-4310 hsa-miR-1825
    hsa-miR-150
    SwitchGear 3'UTR luciferase reporter plasmidTP53 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Sirion Biotech Validated adenovirus to knockdown TP53 in human, mouse 
                         Customized adenovirus for overexpression of TP53

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TP53
    Sirion Biotech Customized lentivirus for stable overexpression of TP53 
                         Customized lentivirus expression plasmids for stable overexpression of TP53 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TP53 About   (see all 105)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glioma
    Glioma0.51
    Prostate cancer0.39
    Non-small cell lung cancer0.51
    Signaling Pathways in Glioblastoma0.36
    Melanoma0.43
    Bladder cancer0.31
    2Endometrial cancer
    Endometrial cancer0.45
    Colorectal cancer0.42
    Signal transduction PTEN pathway0.45
    3Development HGF signaling pathway
    Development Neurotrophin family signaling0.45
    Neurotrophin signaling pathway0.36
    Apoptosis and survival Role of CDK5 in neuronal death and survival0.37
    4Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    5MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/16 EMD Millipore Pathways for TP53 (see all 16)
        DNA damage ATM/ATR regulation of G1/S checkpoint
    Proteolysis Putative SUMO-1 pathway
    Immune response MIF in innate immunity response
    DNA damage DNA-damage-induced responses
    DNA damage Role of SUMO in p53 regulation

    2 R&D Systems Pathways for TP53
        Apoptosis Signaling Pathways
    Akt Signaling Pathway

    5/41 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TP53 (see all 41)
        Telomerase Components in Cell Signaling
    UVB-Induced MAPK Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer
    TRKA Signaling

    2 Cell Signaling Technology (CST) Pathways for TP53
        Cell Cycle / Checkpoint Control
    DNA Damage

    4 Tocris Bioscience Pathways for TP53
        Akt Pathway
    Apoptosis Pathway
    MAPK Pathway
    mTOR Pathway

    5/13 GeneGo (Thomson Reuters) Pathways for TP53 (see all 13)
        DNA damage ATM/ATR regulation of G1/S checkpoint
    Immune response MIF in innate immunity response
    Transcription P53 signaling pathway
    Development Neurotrophin family signaling
    Signal transduction AKT signaling

    5/36 BioSystems Pathways for TP53 (see all 36)
        MAPK signaling pathway
    DNA damage response
    Apoptosis
    Fluoropyrimidine Activity
    Senescence and Autophagy

    3 Sino Biological Pathways for TP53 
        EGFR Signaling Pathway
    p53 Pathway
    Death Receptor Signaling

    5/9        Reactome Pathways for TP53 (see all 9)
        Hemostasis
    Stabilization of p53
    Cell Cycle
    G1/S DNA Damage Checkpoints
    p53-Dependent G1 DNA Damage Response

    2 PharmGKB Pathways for TP53
        Doxorubicin Pathway (Cancer Cell), Pharmacodynamics
    Fluoropyrimidine Pathway, Pharmacodynamics

    5/32         Kegg Pathways  (Kegg details for TP53) (see all 32):
        MAPK signaling pathway
    Cell cycle
    p53 signaling pathway
    PI3K-Akt signaling pathway
    Apoptosis


    TP53 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TP53

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/930 Interacting proteins for TP53 (P046371, 2, 3 ENSP000002693054) via UniProtKB, MINT, STRING, and/or I2D (see all 930)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDM2Q009871, 2, 3, ENSP000004172814EBI-366083,EBI-389668 MINT-6540920 MINT-4793511 MINT-6823775 MINT-7013943 MINT-8303857 MINT-6540905 MINT-68742 MINT-8385459 MINT-56681 MINT-8374464 MINT-58468 MINT-7013791 MINT-68743 MINT-7013956 MINT-4545014 MINT-8339574 MINT-4049631 MINT-6540776 MINT-6801380 MINT-8374452 MINT-58465 MINT-7013688 MINT-7013802 MINT-4303990 MINT-8339590 MINT-6665330 MINT-4793467 MINT-8380636 MINT-4049616 MINT-4054304 MINT-7905142 MINT-8385480 MINT-7013780 MINT-6540889 MINT-8385531 MINT-8385552 MINT-8385886 MINT-8388795 MINT-8415355 MINT-6540807 MINT-8391984 MINT-7905326 MINT-6540796 I2D: score=12 STRING: ENSP00000417281
    HNRNPUL1Q9BUJ21, 2, 3, ENSP000003758634EBI-366083,EBI-1018153 MINT-58678 MINT-58677 MINT-58673 MINT-58674 MINT-58676 MINT-58675 MINT-8415355 MINT-58672 I2D: score=3 STRING: ENSP00000375863
    UBCP0CG482, 3, ENSP000003448184MINT-7220023 MINT-4051326 MINT-4304004 MINT-4054804 MINT-4304143 MINT-6801380 MINT-6615153 MINT-6541035 MINT-7299234 MINT-7298704 MINT-6799774 MINT-7013815 MINT-4052207 MINT-7219995 MINT-5114741 I2D: score=5 STRING: ENSP00000344818
    ENSG00000237724P081073, ENSP000004063594I2D: score=3 STRING: ENSP00000406359
    HSPA1AP081073, ENSP000003648024I2D: score=3 STRING: ENSP00000364802
    About this table

    Gene Ontology (GO): 5/96 biological process terms (GO ID links to tree view) (see all 96):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000060protein import into nucleus, translocation IEA--
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS19749791
    GO:0000733DNA strand renaturation IDA8183576
    GO:0001701in utero embryonic development IEA--
    GO:0001756somitogenesis IEA--

    TP53 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TP53 for compounds           About GeneDecksing

    EMD Millipore small molecules for TP53:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for TP53

    Compounds for TP53 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PRIMA-1METRestores mutant p53 activity[5291-32-7]
    Pifithrin-alpha hydrobromidep53 inhibitor. Also aryl hydrocarbon receptor agonist[63208-82-2]
    RITAMDM2-p53 interaction inhibitor[213261-59-7]
    Cyclic Pifithrin-alpha hydrobromidep53 inhibitor[511296-88-1]
    Pifithrin-muInhibitor of p53-mitochondrial binding[64984-31-2]

    1 DrugBank Compound for TP53    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-(9-ethyl-9H-carbazol-3-yl)-N-methylmethanamine-- --target--10592235

    10/117 Novoseek inferred chemical compound relationships for TP53 gene (see all 117)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraffin 76.9 382 8640471 (4), 7726729 (4), 8434637 (4), 15363320 (4) (see all 99)
    cisplatin 74 1151 12492119 (9), 9811465 (8), 18064040 (7), 14513366 (7) (see all 99)
    noxa 72.7 89 17216584 (4), 17653088 (3), 20160496 (3), 15598651 (3) (see all 52)
    hpvs 71.4 72 20200430 (2), 11002226 (2), 8726818 (2), 9714244 (1) (see all 50)
    estrogen 71 898 14595509 (6), 9744308 (5), 10719737 (4), 15312749 (4) (see all 99)
    progesterone 69.1 712 12416559 (6), 14595509 (5), 9635673 (5), 9744308 (5) (see all 99)
    doxorubicin 67.6 464 15116093 (6), 18263706 (6), 8988061 (5), 11745235 (5) (see all 99)
    aflatoxin b1 63.4 212 16280384 (6), 8921985 (5), 19524575 (5), 1310637 (5) (see all 90)
    5fluorouracil 63.2 456 17634554 (12), 11044365 (7), 14703431 (7), 19810096 (6) (see all 99)
    camptothecin 63.1 172 10536167 (6), 9815856 (5), 19445707 (4), 17709397 (3) (see all 75)

    5 PharmGKB related drug/compound annotations for TP53 gene    About this table
    Drug/compound PharmGKB Annotation
    antineoplastic agentsCA  
    cisplatinCA  
    cyclophosphamideCA  
    fluorouracilCA  
    paclitaxelCA  

    Search CenterWatch for drugs/clinical trials and news about TP53 / P53

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    1 fRNAdb Secondary structure:


    REFSEQ mRNAs for TP53 gene (15 alternative transcripts): 
    NM_000546.5  NM_001126112.2  NM_001126113.2  NM_001126114.2  NM_001126115.1  NM_001126116.1  NM_001126117.1  NM_001126118.1  
    NM_001276695.1  NM_001276696.1  NM_001276697.1  NM_001276698.1  NM_001276699.1  NM_001276760.1  NM_001276761.1  

    Unigene Clusters for TP53:

    Tumor protein p53
    Hs.437460  [show with all ESTs], Hs.740601  [show with all ESTs]
    Unigene Representative Sequences: NM_001126114, BM469215
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000413465(uc002gig.1) ENST00000359597(uc002gih.3) ENST00000504290(uc010cnf.1)
    ENST00000510385(uc010cng.1) ENST00000504937(uc010cne.1 uc002gii.1)
    ENST00000269305(uc002gim.2 uc002gij.2 uc002gin.2 uc002gio.2 uc010cnk.1)
    ENST00000455263(uc010cnh.1) ENST00000420246(uc010cni.1) ENST00000445888
    ENST00000576024 ENST00000509690(uc010cnj.1) ENST00000514944 ENST00000574684
    ENST00000505014(uc010vug.2) ENST00000508793 ENST00000604348 ENST00000503591

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    hsa-miR-576-3p hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7g hsa-let-7a hsa-miR-98 hsa-miR-22
    SwitchGear 3'UTR luciferase reporter plasmidTP53 3' UTR sequence
    Inhib. RNA
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      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TP53

    Additional mRNA sequence: 

    AY627884.1 DQ648883.1 

    17 DOTS entries:

    DT.92469229  DT.100788714  DT.120961435  DT.100788713  DT.75152217  DT.40283865  DT.95274968  DT.100712946 
    DT.120961349  DT.100788719  DT.40120491  DT.120961395  DT.100788715  DT.92010563  DT.120961350  DT.120961391 
    DT.120961408 

    24/112 AceView cDNA sequences (see all 112):

    CR608294 BU673953 CK904490 BU174921 X60018 S66666 BQ066009 AI539544 
    AA379547 BE886147 AA662570 BX952582 X60012 AA291539 X02469 CR624912 
    CA432254 AY627884 BQ057682 AW865736 X60016 AA358870 BM457966 BV190717 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for TP53 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c
    SP1:                                -                             -           -     -                           
    SP2:                                                              -                                             
    SP3:                                                              -           -                                 
    SP4:                                                              -           -     -                           
    SP5:                                                                          -     -                           


    ECgene alternative splicing isoforms for TP53

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TP53 expression in normal human tissues (normalized intensities)      TP53 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGAGCCGC
    TP53 Expression
    About this image


    TP53 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             oral mucosa ; squamous epithelial cells   
             mouth   
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Peripheral blood-derived endothelial progenitor cells
             huvec   
     
     Hair
             Primary Hair Placode Cells Hair Follicle
     
     Epidermis (Integumentary System)    fully expand to see all 2 entries
             Intermediate Keratinocytes Embryonic Epidermis
     
     Epithelium (Uncategorized)    fully expand to see all 2 entries
             oral mucosa ; squamous epithelial cells   

    See TP53 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TP53

    SOURCE GeneReport for Unigene clusters: Hs.437460 Hs.740601

    UniProtKB/Swiss-Prot: P53_HUMAN, P04637
    Tissue specificity: Ubiquitous. Isoforms are expressed in a wide range of normal tissues but in a tissue-dependent
    manner. Isoform 2 is expressed in most normal tissues but is not detected in brain, lung, prostate, muscle, fetal
    brain, spinal cord and fetal liver. Isoform 3 is expressed in most normal tissues but is not detected in lung,
    spleen, testis, fetal brain, spinal cord and fetal liver. Isoform 7 is expressed in most normal tissues but is
    not detected in prostate, uterus, skeletal muscle and breast. Isoform 8 is detected only in colon, bone marrow,
    testis, fetal brain and intestine. Isoform 9 is expressed in most normal tissues but is not detected in brain,
    heart, lung, fetal liver, salivary gland, breast or intestine

        SABiosciences Expression via Pathway-Focused PCR Arrays including TP53 (see all 37): 
              Lung Cancer in human mouse rat
              Lymphoma in human mouse rat
              Prostate Cancer in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TP53

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TP53 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trp531 , 5 transformation related protein 531, 5 80.62(n)1
    78.55(a)1
      11 (42.83 cM)5
    220591  NM_011640.31  NP_035770.21 
     695803595 
    lizard
    (Anolis carolinensis)
    Reptilia TP536
    tumor protein p53
    47(a)
    1 ↔ 1
    AAWZ02038700(4261-10723)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.209432 Xenopus laevis transcribed sequence with weak similarity more 78.01(n)    BU152764.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tp532 tumor protein p53 74.13(n)   30590  AF365873.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta p536
    p53
    13(a)
    1 → many
    3R(18875379-18879804)


    ENSEMBL Gene Tree for TP53 (if available)
    TreeFam Gene Tree for TP53 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TP53 gene
    TP732  TP632  
    3 SIMAP similar genes for TP53 using alignment to 88 protein entries:     P53_HUMAN (see all proteins):
    p53    TP73    TP63

    TP53 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2063 SNPs in TP53 are shown (see all 2063)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0446074
    Sporadic cancers4--see VAR_0446072 V M mis40--------
    VAR_0446314
    Sporadic cancers4--see VAR_0446312 A V mis40--------
    VAR_0455164
    A sporadic cancer4--see VAR_0455162 D Y mis40--------
    VAR_0454394
    A sporadic cancer4--see VAR_0454392 H R mis40--------
    VAR_0450104
    A familial cancer not matching LFS4--see VAR_0450102 V E mis40--------
    VAR_0455494
    A sporadic cancer4--see VAR_0455492 A G mis40--------
    VAR_0445894
    A sporadic cancer4--see VAR_0445892 A T mis40--------
    VAR_0457924
    A sporadic cancer4--see VAR_0457922 C T mis40--------
    VAR_0455714
    A sporadic cancer4--see VAR_0455712 S T mis40--------
    VAR_0448244
    Sporadic cancers4--see VAR_0448242 P T mis40--------

    HapMap Linkage Disequilibrium report for TP53 (7565097 - 7590863 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TP53:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv457659CNV Loss19166990


    Human Gene Mutation Database (HGMD): TP53

    Locus Specific Mutation Databases (LSDB): TP53
    5/120 SABiosciences Cancer Mutation PCR Assays for TP53 (see all 120):
    Cosmic IdAA Change
    10812p.S241F
    10856p.E294*
    11089p.I195T
    10889p.H179R
    43559p.V173L
    5/22 SABiosciences Cancer Mutation PCR Arrays containing TP53 (see all 22):
    Breast Cancer
    Cancer Comprehensive Panel 384HT
    Lung Cancer
    Myelodysplastic Syndromes
    Soft Tissue Tumors
    2 SABiosciences qBiomarker Copy Number PCR Arrays containing TP53:
    Oncogenes & Tumor Suppressor Genes 384HC
    WNT Signaling
    SeqTarget long-range PCR primers for resequencing TP53
    DNA2.0 Custom Variant and Variant Library Synthesis for TP53

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 191170OMIM information: 215500 601202 601251 605809 606579 607464 608631 609432 610185    
    OMIM disorders: 114500  151623  114550  259500  260500  607107  260350  202300  114480  
    UniProtKB/Swiss-Prot: P53_HUMAN, P04637
  • Note=TP53 is found in increased amounts in a wide variety of transformed cells. TP53 is frequently
    mutated or inactivated in about 60% of cancers. TP53 defects are found in Barrett metaplasia a condition in which
    the normally stratified squamous epithelium of the lower esophagus is replaced by a metaplastic columnar
    epithelium. The condition develops as a complication in approximately 10% of patients with chronic
    gastroesophageal reflux disease and predisposes to the development of esophageal adenocarcinoma
  • Esophageal cancer (ESCR) [MIM:133239]: A malignancy of the esophagus. The most common types are
    esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease
    because it is usually not detected until it has progressed to an advanced incurable stage. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Li-Fraumeni syndrome (LFS) [MIM:151623]: Autosomal dominant familial cancer syndrome that in its classic
    form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative
    affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a
    sarcoma at any age. Other clinical definitions for LFS have been proposed (PubMed:8118819 and PubMed:8718514) and
    called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of
    malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline
    mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical
    carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15,
    rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric
    cancers. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]: A non-melanoma skin cancer affecting
    the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes.
    Note=The gene represented in this entry is involved in disease pathogenesis
  • Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting tissues of the lung. The most common form
    of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes:
    squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced
    stage and has a poor prognosis. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Choroid plexus papilloma (CPLPA) [MIM:260500]: Slow-growing benign tumor of the choroid plexus that often
    invades the leptomeninges. In children it is usually in a lateral ventricle but in adults it is more often in the
    fourth ventricle. Hydrocephalus is common, either from obstruction or from tumor secretion of cerebrospinal
    fluid. If it undergoes malignant transformation it is called a choroid plexus carcinoma. Primary choroid plexus
    tumors are rare and usually occur in early childhood. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Adrenocortical carcinoma (ADCC) [MIM:202300]: A malignant neoplasm of the adrenal cortex and a rare
    childhood tumor. It occurs with increased frequency in patients with Beckwith-Wiedemann syndrome and Li-Fraumeni
    syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Basal cell carcinoma 7 (BCC7) [MIM:614740]: A common malignant skin neoplasm that typically appears on
    hair-bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has
    potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small,
    raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can
    vary from a few millimeters to several centimeters in diameter. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry

  • 20/548 diseases for TP53 (see all 548):    About MalaCards
    li-fraumeni syndrome    adrenocortical carcinoma    cystic teratoma    ovarian cystic teratoma
    necrotizing sialometaplasia    hepadnavirus infection    breast sarcoma    immunoproliferative small intestinal disease
    multifocal osteogenic sarcoma    pancreatic serous cystadenoma    breast apocrine carcinoma    breast adenoma
    choroid plexus papilloma    eyelid neoplasm    papilloma    bladder transitional cell carcinoma
    li-fraumeni-like syndrome    small cell carcinoma of the bladder    juvenile pilocytic astrocytoma    acute myeloid leukemia, adult

    20/52 diseases from the University of Copenhagen DISEASES database for TP53 (see all 52):
    Carcinoma     Breast cancer     Li-Fraumeni syndrome     Lung cancer
    Retinoblastoma     Colorectal cancer     Malignant glioma     Ovarian cancer
    Urinary bladder cancer     Adenoma     Leukemia     Cervical cancer
    Lymphoma     Hepatocellular carcinoma     Skin cancer     Esophageal cancer
    Endometrial cancer     Melanoma     Pancreatic cancer     Prostate cancer

    TP53 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/96 Novoseek inferred disease relationships for TP53 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 93.8 24003 8777377 (10), 7901994 (9), 8007011 (9), 8324748 (8) (see all 99)
    li-fraumeni syndrome 90.7 344 1373881 (5), 17483435 (3), 10980596 (3), 10484981 (3) (see all 99)
    cancer 90.2 7050 17598983 (10), 18223686 (8), 15055300 (7), 12561442 (7) (see all 99)
    carcinoma 87.5 3357 9110348 (10), 8062281 (9), 16033093 (8), 7927312 (8) (see all 99)
    carcinoma squamous cell 86.8 1909 9127380 (8), 8826924 (7), 10445528 (6), 11255264 (6) (see all 99)
    retinoblastoma 85.1 701 10792093 (8), 9337350 (6), 11306502 (5), 8224613 (5) (see all 99)
    microsatellite instability 85 363 9731891 (6), 9716224 (5), 11290569 (5), 12612901 (5) (see all 99)
    allelic loss 83.7 407 16293976 (5), 7909153 (5), 8467510 (4), 11520271 (4) (see all 99)
    adenocarcinoma 82.7 1551 12823203 (7), 17982662 (7), 9379505 (6), 10674608 (6) (see all 99)
    breast cancer 81.9 2818 7917542 (8), 8679460 (8), 12170762 (7), 15566648 (6) (see all 99)

    GeneTests: TP53
    GeneReviews: TP53
    Genetic Association Database (GAD): TP53
    Human Genome Epidemiology (HuGE) Navigator: TP53 (1074 documents)
    Tumor Gene Database (TGDB): TP53

    Export disorders for TP53 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TP53 gene, integrated from 9 sources (see all 15307):
    (articles sorted by number of sources associating them with TP53)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of a human p53 cDNA clone: expression of the human p53 gene. (PubMed id 6396087)1, 2, 3 Matlashewski G....Benchimol S. (1984)
    2. Potential Increase in the Prognostic Value of p53 Mutation by Pro72 Allele in Stage I Non-Small-Cell Lung Cancer. (PubMed id 19434453)1, 4, 9 Chien W.P....Lee H. (2009)
    3. Mutations in p53, p53 protein overexpression and brea st cancer survival. (PubMed id 19602056)1, 4, 9 Rossner P....Santella R.M. (2008)
    4. TP53 mutations in endometrial cancers: relation to PT EN gene defects. (PubMed id 20169661)1, 4, 9 Janiec-Jankowska A....NajmoA8a U. (2010)
    5. Using whole genome amplification (WGA) of low-volume biopsies to assess the prognostic role of EGFR, KRAS, p53, and CMET mutations in advanced-stage non-small cell lung cancer (NSCLC). (PubMed id 19096301)1, 4, 9 Lim E.H....Tan P. (2009)
    6. FAK overexpression and p53 mutations are highly corre lated in human breast cancer. (PubMed id 19521985)1, 4, 9 Golubovskaya V.M....Cance W.G. (2009)
    7. [Mutations of p53 gene in 41 cases of human brain gliomas] (PubMed id 18184456)1, 4, 9 Cui W....Wang X.C. (2008)
    8. Association of p53 and p21(CDKN1A/WAF1/CIP1) polymorphisms with oral cancer in Taiwan patients. (PubMed id 17595776)1, 4, 9 Bau D.T....Tsai F.J. (2007)
    9. TP53 mutations in breast cancer tumors of patients from Rio de Janeiro, Brazil: association with risk factors and tumor characteristics. (PubMed id 12209590)1, 4, 9 Simao T.A....de Moura-Gallo C.V. (2002)
    10. Mutations in the p53 tumor suppressor gene and early onset breast cancer. (PubMed id 12170762)1, 4, 9 Lai H....Meng L. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7157 HGNC: 11998 AceView: TP53 Ensembl:ENSG00000141510 euGenes: HUgn7157
    ECgene: TP53 Kegg: 7157 H-InvDB: TP53

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TP53 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TP53 Genetics and Cytogenetics in Oncology and Haematology
    IARC TP53 mutation databasehttp://www-p53.iarc.fr/
    The TP53 mutant web sitehttp://p53.fr/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TP53
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tp53/
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=TP53
    Wikipedia http://en.wikipedia.org/wiki/P53

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TP53 gene:
    Search GeneIP for patents involving TP53

    Licensable Technologies for TP53 gene:
    Weizmann Institute:
  • Treatment of Systemic Lupus Erythematosus by Down-Regulating the Autoimmune Response to Autoantigens
  •    (see first 1)
  • Immunogenic Compositions For Induction of Anti-Tumor Immunity
  •  Salk Institute: Assays for p53 Function in Cells
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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