CleftGeneDB-Search

Gene: TP53

Basic information

Tag	Content
Uniprot ID	P04637; 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;
Entrez ID	7157
Genbank protein ID	AAF36356.1; CAA42630.1; ABA29757.1; AAF63442.1; AAA61212.1; CAA42627.1; AAF36358.1; AAF36379.1; CAA42635.1; AAF36359.1; AAK76359.1; CAA26306.1; AAA59987.1; AAA59989.1; AAF36362.1; CAA42626.1; ABA29756.1; ABB80266.1; AAR10356.1; AAF36377.1; AAK76358.1; CAA42632.1; CAA42634.1; AAF36355.1; BAG35463.1; ABA29754.1; CAA42631.1; AAC12971.1; AAF36376.1; AAF36360.1; EAW90144.1; CAA42633.1; CAA42629.1; AAF36378.1; AAQ90158.1; AAA59988.1; AAF36357.1; AAD28628.1; AAF36381.1; AAP30003.1; CAA38095.1; AAF36375.1; BAC16799.1; AAF63443.1; AAF36374.1; AAF36354.1; ABA29755.1; AAG28785.1; CAA25652.1; AAR13239.1; AAB39322.1; AAH03596.1; AAF36361.1; EAW90143.1; AAF36382.1; CAA42628.1; AAD28535.1; AAA61211.1; ABB80262.1; AAF36380.1; AAV80424.1; ABA29753.1;
Genbank nucleotide ID	NM_001126116.1; NM_001276697.1; NM_001276761.1; NM_001126112.2; NM_001276699.1; NM_001126118.1; NM_001276695.1; NM_001276698.1; NM_001276760.1; NM_001126114.2; NM_001126113.2; NM_000546.5; NM_001126117.1; NM_001126115.1; NM_001276696.1;
Ensembl protein ID	ENSP00000481638; ENSP00000480868; ENSP00000482222; ENSP00000478219; ENSP00000482258; ENSP00000484409; ENSP00000391478; ENSP00000391127; ENSP00000481179; ENSP00000482537; ENSP00000398846; ENSP00000269305; ENSP00000478499;
Ensembl nucleotide ID	ENSG00000141510
Gene name	Cellular tumor antigen p53
Gene symbol	TP53
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	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. Its pro-apoptotic activity is activated via its interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2 (PubMed:12524540). However, this activity is inhibited when the interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2 is displaced by PPP1R13L/iASPP (PubMed:12524540). 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 seems to have an 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. Regulates the circadian clock by repressing CLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER2 (PubMed:24051492).
Sequence	MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP 60 DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK 120 SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE 180 RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS 240 SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP 300 PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QIRGRERFEM FRELNEALEL KDAQAGKEPG 360 GSRAHSSHLK SKKGQSTSRH KKLMFKTEGP DSD 393

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

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PDB ID
1A1U
1AIE
1AIE
1C26
1DT7

Showing 1 to 5 of 202 entries

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Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	Tp53	22059	P02340	CPO,CLP	Mus musculus	Publication	More>>
1:1 ortholog	TP53	281542	P67939		Bos taurus	Prediction	More>>
1:1 ortholog	TP53		A0A452G0L9		Capra hircus	Prediction	More>>
1:1 ortholog	TP53	7157	P04637		Homo sapiens	Prediction	More>>
1:1 ortholog	TP53	455214	H2QC53		Pan troglodytes	Prediction	More>>
1:1 ortholog	TP53		G1SEU0		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Tp53		M0R497		Rattus norvegicus	Prediction	More>>
1:1 ortholog	tp53	30590	G1K2L5		Danio rerio	Prediction	More>>

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Other genetic variants/mutations

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ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs587782646	p.Asp7His	missense variant	-	NC_000017.11:g.7676576C>G	UniProt,dbSNP
rs535274413	p.Val10Ile	missense variant	-	NC_000017.11:g.7676567C>T	UniProt,dbSNP
rs201753350	p.Val31Ile	missense variant	-	NC_000017.11:g.7676387C>T	UniProt,dbSNP
rs121912661	p.Leu35Phe	missense variant	-	NC_000017.11:g.7676264C>A	UniProt,dbSNP
rs587781866	p.Pro36Leu	missense variant	-	NC_000017.11:g.7676262G>A	UniProt,dbSNP
rs1353016807	p.Ala39Val	missense variant	-	NC_000017.11:g.7676253G>A	UniProt,dbSNP
rs876659630	p.Ser46Pro	missense variant	-	NC_000017.11:g.7676233A>G	UniProt,dbSNP
rs587780728	p.Asp49His	missense variant	-	NC_000017.11:g.7676224C>G	UniProt,dbSNP
rs587780728	p.Asp49Asn	missense variant	-	NC_000017.11:g.7676224C>T	UniProt,dbSNP
rs1555526742	p.Phe54Leu	missense variant	-	NC_000017.11:g.7676209A>G	UniProt,dbSNP
rs1460793472	p.Asp61Gly	missense variant	-	NC_000017.11:g.7676187T>C	UniProt,dbSNP
rs876658902	p.Ala63Thr	missense variant	-	NC_000017.11:g.7676182C>T	UniProt,dbSNP
rs372201428	p.Ala63Val	missense variant	-	NC_000017.11:g.7676181G>A	UniProt,dbSNP
rs1555526711	p.Met66Ile	missense variant	-	NC_000017.11:g.7676171C>T	UniProt,dbSNP
rs756233241	p.Ala69Gly	missense variant	-	NC_000017.11:g.7676163G>C	UniProt,dbSNP
rs756233241	p.Ala69Val	missense variant	-	NC_000017.11:g.7676163G>A	UniProt,dbSNP
rs1042522	p.Pro72Arg	missense variant	-	NC_000017.11:g.7676154G>C	UniProt,dbSNP
rs1042522	p.Pro72His	missense variant	-	NC_000017.11:g.7676154G>T	UniProt,dbSNP
rs587782423	p.Val73Met	missense variant	-	NC_000017.11:g.7676152C>T	UniProt,dbSNP
rs534447939	p.Pro82Leu	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676124G>A	UniProt,dbSNP

Showing 1 to 20 of 5,894 entries

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Disease or phenotype associated information

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Disease ID	Disease Name	Disease Type	Source
C0000735	Abdominal Neoplasms	group	BEFREE
C0000737	Abdominal Pain	phenotype	HPO
C0000768	Congenital Abnormality	group	BEFREE
C0001175	Acquired Immunodeficiency Syndrome	group	BEFREE;LHGDN
C0001206	Acromegaly	disease	BEFREE
C0001418	Adenocarcinoma	group	BEFREE;CLINVAR;CTD_human;CTD_mouse;LHGDN
C0001422	Adenofibroma	disease	BEFREE
C0001430	Adenoma	group	BEFREE;CTD_human;LHGDN
C0001442	Adenosarcoma	disease	BEFREE
C0001486	Adenovirus Infections	group	BEFREE
C0001618	Tumors of Adrenal Cortex	group	BEFREE;CGI;HPO;LHGDN
C0001621	Adrenal Gland Diseases	group	BEFREE
C0001624	Adrenal Gland Neoplasms	group	BEFREE;CTD_human
C0001627	Congenital adrenal hyperplasia	disease	BEFREE
C0001815	Primary Myelofibrosis	disease	BEFREE
C0001849	AIDS Dementia Complex	disease	LHGDN
C0001857	AIDS related complex	disease	LHGDN
C0001969	Alcoholic Intoxication	disease	BEFREE;PSYGENET
C0001973	Alcoholic Intoxication, Chronic	disease	BEFREE;PSYGENET
C0002152	Alloxan Diabetes	disease	CTD_human;CTD_mouse

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

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GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001046	core promoter sequence-specific DNA binding	IDA
GO:0001085	RNA polymerase II transcription factor binding	IPI
GO:0001094	TFIID-class transcription factor complex binding	IPI
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0002020	protease binding	IPI
GO:0002039	p53 binding	IPI
GO:0003677	DNA binding	IDA
GO:0003677	DNA binding	IMP
GO:0003682	chromatin binding	IDA
GO:0003700	DNA-binding transcription factor activity	IMP
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0003730	mRNA 3'-UTR binding	IDA
GO:0005507	copper ion binding	IDA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IDA

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GO:Biological Process

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GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS
GO:0000733	DNA strand renaturation	IDA
GO:0001701	in utero embryonic development	IEA
GO:0001756	somitogenesis	IEA
GO:0001836	release of cytochrome c from mitochondria	IEA
GO:0002244	hematopoietic progenitor cell differentiation	IMP
GO:0002309	T cell proliferation involved in immune response	IEA
GO:0002326	B cell lineage commitment	IEA
GO:0002360	T cell lineage commitment	IEA
GO:0002931	response to ischemia	IEA
GO:0006289	nucleotide-excision repair	IMP
GO:0006302	double-strand break repair	IEA
GO:0006355	regulation of transcription, DNA-templated	IMP
GO:0006355	regulation of transcription, DNA-templated	IDA
GO:0006606	protein import into nucleus	IEA
GO:0006914	autophagy	IMP
GO:0006974	cellular response to DNA damage stimulus	IDA
GO:0006974	cellular response to DNA damage stimulus	IMP
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IMP
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS

Showing 1 to 20 of 143 entries

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GO:Cellular Component

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GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0000790	nuclear chromatin	IDA
GO:0000790	nuclear chromatin	IMP
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IMP
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005657	replication fork	IEA
GO:0005667	transcription factor complex	IGI
GO:0005669	transcription factor TFIID complex	IDA
GO:0005730	nucleolus	IDA
GO:0005737	cytoplasm	IDA
GO:0005737	cytoplasm	IMP
GO:0005739	mitochondrion	IDA
GO:0005759	mitochondrial matrix	IEA
GO:0005783	endoplasmic reticulum	IEA
GO:0005813	centrosome	IDA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0016363	nuclear matrix	IDA

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Reactome Pathway

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Reactome ID	Reactome Term	Evidence
R-HSA-109581	Apoptosis	TAS
R-HSA-109582	Hemostasis	IEA
R-HSA-109606	Intrinsic Pathway for Apoptosis	TAS
R-HSA-111448	Activation of NOXA and translocation to mitochondria	TAS
R-HSA-114452	Activation of BH3-only proteins	TAS
R-HSA-1257604	PIP3 activates AKT signaling	TAS
R-HSA-1257604	PIP3 activates AKT signaling	IEA
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-139915	Activation of PUMA and translocation to mitochondria	TAS
R-HSA-157118	Signaling by NOTCH	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-1640170	Cell Cycle	TAS
R-HSA-168256	Immune System	TAS
R-HSA-1912408	Pre-NOTCH Transcription and Translation	TAS
R-HSA-1912422	Pre-NOTCH Expression and Processing	TAS
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-2262752	Cellular responses to stress	TAS
R-HSA-2559580	Oxidative Stress Induced Senescence	TAS
R-HSA-2559583	Cellular Senescence	TAS

Showing 1 to 20 of 90 entries

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Drugs and compounds information

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ID	Drug Name	Action	PubMed
C000499	ferric oxide	[ferric oxide analog co-treated with Acrolein] results in increased expression of TP53 protein	24847785
C000499	ferric oxide	ferric oxide analog results in increased phosphorylation of TP53 protein	22995439
C000591600	tetrachlorobenzoquinone	tetrachlorobenzoquinone affects the reaction [TP53 protein binds to RAD51 protein]	27989139
C000591600	tetrachlorobenzoquinone	tetrachlorobenzoquinone results in increased expression of and results in increased phosphorylation of TP53 protein	27989139
C000591600	tetrachlorobenzoquinone	TP53 protein promotes the reaction [tetrachlorobenzoquinone results in decreased expression of RAD51 protein]	27989139
C000591600	tetrachlorobenzoquinone	TP53 protein promotes the reaction [tetrachlorobenzoquinone results in increased expression of CASP3 protein modified form]	27989139
C000591600	tetrachlorobenzoquinone	TP53 protein promotes the reaction [tetrachlorobenzoquinone results in increased expression of H2AX protein modified form]	27989139
C000591600	tetrachlorobenzoquinone	TP53 protein results in increased susceptibility to tetrachlorobenzoquinone	27989139
C000595015	6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine results in decreased methylation of TP53 protein	28073004
C000595015	6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine results in increased expression of and results in decreased methylation of TP53 protein	28073004
C000595015	6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	TP53 protein results in increased susceptibility to 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	28073004
C000600690	cationic amphipathic peptide RT2	cationic amphipathic peptide RT2 results in increased expression of TP53 protein	30019842
C000602704	UF010 compound	Etoposide promotes the reaction [UF010 compound results in increased expression of TP53 protein]	25699604
C000602704	UF010 compound	UF010 compound promotes the reaction [Etoposide results in increased expression of and results in increased acetylation of TP53 protein]	25699604
C000602704	UF010 compound	UF010 compound results in increased expression of TP53 protein	25699604
C000607970	XI-006	XI-006 inhibits the reaction [formononetin results in decreased expression of TP53 protein]	28414026
C000614724	methyleugenol-2',3'-epoxide	methyleugenol-2',3'-epoxide results in increased phosphorylation of TP53 protein	28818686
C000614725	3'-oxomethylisoeugenol	3'-oxomethylisoeugenol results in increased phosphorylation of TP53 protein	28818686
C000617228	beta-2-himachalen-6-ol	beta-2-himachalen-6-ol results in increased expression of TP53 protein	28782499
C000617853	GW 506033X	GW 506033X inhibits the reaction [satratoxin G results in increased expression of TP53 mRNA]	18535002

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Functional annotations

Keywords

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Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0010	Activator
KW-0025	Alternative splicing
KW-0043	Tumor suppressor
KW-0053	Apoptosis
KW-0090	Biological rhythms
KW-0131	Cell cycle
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0256	Endoplasmic reticulum
KW-0325	Glycoprotein
KW-0435	Li-Fraumeni syndrome
KW-0479	Metal-binding
KW-0488	Methylation
KW-0496	Mitochondrion
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism

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Interpro

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InterPro ID	InterPro Term
IPR002117	p53_tumour_suppressor
IPR008967	p53-like_TF_DNA-bd
IPR010991	p53_tetrameristn
IPR011615	p53_DNA-bd
IPR012346	p53/RUNT-type_TF_DNA-bd_sf
IPR013872	p53_transactivation_domain
IPR036674	p53_tetramer_sf
IPR040926	p53_TAD2

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PROSITE

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PROSITE ID	PROSITE Term
PS00348	P53

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Pfam

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Pfam ID	Pfam Term
PF00870	P53
PF07710	P53_tetramer
PF08563	P53_TAD
PF18521	TAD2

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Gene: TP53

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction