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TP53 tumor protein p53 [ Homo sapiens (human) ]

Gene ID: 7157, updated on 11-Oct-2020

Summary

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Official Symbol: TP53provided by HGNC
Official Full Name: tumor protein p53provided by HGNC
Primary source: HGNC:HGNC:11998
See related: Ensembl:ENSG00000141510 MIM:191170
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P53; BCC7; LFS1; BMFS5; TRP53
Summary: 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 from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
Expression: Ubiquitous expression in spleen (RPKM 13.2), lymph node (RPKM 13.1) and 25 other tissues See more
Orthologs: mouse all

Genomic context

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See TP53 in Genome Data Viewer

Location:: 17p13.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
109.20200815	current	GRCh38.p13 (GCF_000001405.39)	17	NC_000017.11 (7668402..7687550, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7571720..7590868, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Predictive Role of TP53, PIK3CA and MLL2 in ER+ HER2+ Breast Bancer: Biomarker Analysis of Neo-ALL-IN [NCT 01275859].
Title: Predictive Role of TP53, PIK3CA and MLL2 in ER+ HER2+ Breast Bancer: Biomarker Analysis of Neo-ALL-IN [NCT 01275859].
High Expression of p21 as a Potential Therapeutic Target in Ovarian Clear-cell Carcinoma.
Title: High Expression of p21 as a Potential Therapeutic Target in Ovarian Clear-cell Carcinoma.
LRRC17 Is Linked to Prognosis of Ovarian Cancer Through a p53-dependent Anti-apoptotic Function.
Title: <i>LRRC17</i> Is Linked to Prognosis of Ovarian Cancer Through a p53-dependent Anti-apoptotic Function.
Mxi-2 Dependent Regulation of p53 in Prostate Cancer.
Title: Mxi-2 Dependent Regulation of p53 in Prostate Cancer.
Prognostic value of TP53 co-mutation status combined with EGFR mutation in patients with lung adenocarcinoma.
Title: Prognostic value of TP53 co-mutation status combined with EGFR mutation in patients with lung adenocarcinoma.
Diepoxybutane induces the expression of a novel p53-target gene XCL1 that mediates apoptosis in exposed human lymphoblasts.
Title: Diepoxybutane induces the expression of a novel p53-target gene XCL1 that mediates apoptosis in exposed human lymphoblasts.
Voltage-gated sodium channels beta3 subunit promotes tumorigenesis in hepatocellular carcinoma by facilitating p53 degradation.
Title: Voltage-gated sodium channels β3 subunit promotes tumorigenesis in hepatocellular carcinoma by facilitating p53 degradation.
Conformational dynamics of p53 N-terminal TAD2 region under different solvent conditions.
Title: Conformational dynamics of p53 N-terminal TAD2 region under different solvent conditions.
ZNF143 Suppresses Cell Apoptosis and Promotes Proliferation in Gastric Cancer via ROS/p53 Axis.
Title: ZNF143 Suppresses Cell Apoptosis and Promotes Proliferation in Gastric Cancer via ROS/p53 Axis.
A novel regulatory circuit between p53 and GFI1 controls induction of apoptosis in T cells.
Title: A novel regulatory circuit between p53 and GFI1 controls induction of apoptosis in T cells.

Submit: New GeneRIF Correction See all GeneRIFs (8239)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TP53 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. GeneReviews: Not available
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. GeneReviews: Not available
Adrenocortical carcinoma, hereditary MedGen: C1859972 OMIM: 202300 GeneReviews: Not available	Compare labs
Basal cell carcinoma, susceptibility to, 7 MedGen: C3553606 OMIM: 614740 GeneReviews: Not available	Compare labs
BONE MARROW FAILURE SYNDROME 5 MedGen: C4748488 OMIM: 618165 GeneReviews: Not available	Compare labs
Carcinoma of pancreas MedGen: C0235974 OMIM: 260350 GeneReviews: Not available	Compare labs
Choroid plexus papilloma MedGen: C0205770 OMIM: 260500 GeneReviews: Not available	Compare labs
Colorectal cancer MedGen: C1527249 OMIM: 114500 GeneReviews: Lynch Syndrome	Compare labs
Familial cancer of breast MedGen: C0006142 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	Compare labs
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. GeneReviews: Not available
Glioma susceptibility 1 MedGen: C2750850 OMIM: 137800 GeneReviews: Not available	Compare labs
Hepatocellular carcinoma MedGen: C2239176 OMIM: 114550 GeneReviews: Not available	Compare labs
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. GeneReviews: Not available
Li-Fraumeni syndrome 1 MedGen: C1835398 OMIM: 151623 GeneReviews: Wilms Tumor Predisposition, Li-Fraumeni Syndrome	Compare labs
Nasopharyngeal carcinoma MedGen: C2931822 OMIM: 607107 GeneReviews: Not available	Compare labs
Osteosarcoma MedGen: C0029463 OMIM: 259500 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated (2016-09-08) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated (2016-09-08) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Latent HIV infection increases TP53 (p53) expression and phosphorylation	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 Env gp120 induces TP53 (p53) via binding to the CXCR4 co-receptor	PubMed
	env	HIV-1 Env gp120 treatment activates TP53 (p53) which contributes to the upregulation of the mitochondrial redox enzyme PRODH (POX)	PubMed
	env	HIV-1 gp120 is potentially cytotoxic to human cells through the induction of p53, which may eventually lead to induction of apoptosis	PubMed
	env	Caspase 8 proteolytic target protein Bid is cleaved and undergoes mitochondrial translocation in gp120-treated p53 expression neurons	PubMed
	env	HIV-1 gp120-mediated activation of caspase 8 occurs in a p53 independent manner, while HIV-1 gp120-mediated activation of caspase 3 requires p53	PubMed
	env	Tumor suppressor protein PML is required for the activating phosphorylation of ATM, p38 MAPK, and p53 in HIV-1 Env-elicited syncytia	PubMed
	env	p38 MAPK-mediated p53 phosphorylation on serine 46 contributes to apoptosis induced by the HIV-1 envelope glycoprotein complex (gp120/gp41)	PubMed
	env	Syncytial apoptosis mediated by the fusion of cells expressing HIV-1 gp120 with cells expressing the CD4/CXCR4 receptor/coreceptor complex causes phosphorylation of p53 on serine 15 and Bax upregulation	PubMed
Nef	nef	Assays with phage-displayed Nef from HIV-1 NL4-3 have been used to identify a series of guanidine alkaloid-based inhibitors of Nef interactions with p53, actin, and p56(lck)	PubMed
	nef	HIV-1 Nef binds directly to tumor suppressor protein p53; an N-terminal 57-residue fragment of Nef (Nef 1-57) contains the p53-binding domain	PubMed
Pr55(Gag)	gag	HIV-1 infection upregulates the expression of p53 in CD4+ T cells and PBMCs in terms of increased cellular HIV-1 Gag/p24 levels	PubMed
Rev	rev	HIV-1 Tat reactivates latent HIV-1 proviruses in J1.1 and ACH-2 cell lines and promotes p53-induced apoptosis in the presence of Rev	PubMed
Tat	tat	Expression of p53 inhibits HIV-1 Tat activity in a dose-dependent manner and PKR plays a crucial role in p53-mediated Tat suppression in p53-/- cells	PubMed
	tat	Wild-type p53 is a potent inhibitor of HIV-1 Tat transactivation of the HIV-1 LTR promoter in Jurkat T cells and Hep3B cells	PubMed
	tat	HIV-1 Tat downregulates the expression of p53, suggesting a mechanism for HIV-1-mediated transformation of infected cells	PubMed
	tat	Treatment with HIV-Tat and morphine activates extracellular signal-regulated kinase-1/2 (ERK1/2), upregulates p53 and p21 levels, and downregulates cyclin D1 and Akt levels in human fetal brain-derived neural precursor cells	PubMed
	tat	HIV-1 Tat activates the p53 transcription factor pathway leading to the induction of endogenous p53 and p73 in neuronal cells	PubMed
	tat	HIV-1 Tat inhibits SIRT1 and increases acetylation of p53, which leads to activation of p21 and BAX in HeLa-CD4+ cells	PubMed
	tat	When expressed in astrocytes, neurons, and non-glial 293T cells, HIV-1 Tat interacts with a number of cell cycle-related proteins including cyclin A, cyclin B, cyclin D3, Cdk2, Cdk4, Cdk1/Cdc2, cdc6, p27, p53, p63, hdlg, and PCNA	PubMed
	tat	HIV-1 Tat reactivates latent HIV-1 proviruses in J1.1 and ACH-2 cell lines and promotes p53-induced apoptosis in the presence of Rev	PubMed
	tat	The p53 tetramerization domain (residues 326-355) binds directly to residues 1-35 and 47-57 in HIV-1 Tat as evidenced by using peptide mapping, fluorescence anisotropy, and NMR spectroscopy	PubMed
	tat	In the absence of either p53 or p73, Tat fails to induce dendritic retraction or to activate the proapoptotic proteins, such as Bax	PubMed
	tat	Activation of p38 MAPK in HIV-infected cells mediated by Tat leads to the phosphorylation of p53 which subsequently upregulates CAV-1 expression	PubMed
	tat	HIV-1 Tat binds to p53, an interaction mediated by the basic region of Tat (amino acids 49-57) and the acidic O2 domain of p53 (amino acids 341-354	PubMed
	tat	Supernatants from HIV-1 Tat-transfected monocytoid cells induces p53 expression in neurons, indicating a role for Tat in the neuropathogenesis of HIV-1	PubMed
	tat	HIV-1 Tat inhibits p53-responsive transcription by binding to histone acetyltransferases and repressing the acetylation of p53 on residue Lys-320, alluding to a mechanism whereby Tat may impair p53 functions, thus favoring the establishment of neoplasia	PubMed
	tat	HIV-1 Tat and p53 cooperate in the activation of HIV-1 gene expression in SaOS2 cells	PubMed
Vif	vif	HIV-1 Vif stabilizes TP53 by blocking MDM2-induced ubiquitination and inhibits MDM2-mediated nuclear export of TP53, leading to support viral replication through inducing G2 cell cycle arrest	PubMed
	vif	The N-terminal region (residues 1-50) of HIV-1 Vif is important for binding to TP53	PubMed
Vpr	vpr	HIV-1 Vpr interacts with p53 in a complex with the transcription factor Sp1 that modulates viral gene transcription from the HIV-1 LTR promoter	PubMed
	vpr	HIV-1 Vpr downregulates proliferation-associated protein 2G4 (PA2G4) and upregulates p53 in glioblastoma U87MG cells	PubMed
	vpr	Exposure of cultured human primary astrocytes to HIV-1 Vpr induces p53 up-regulation, loss of mitochondrial membrane potential, and caspase-6 activation followed by cell injury	PubMed
	vpr	Soluble HIV-1 Vpr causes neuronal apoptosis, involving cytochrome c extravasation, p53 induction, and activation of caspase-9	PubMed
	vpr	HIV-1 Vpr inhibits the interaction of p53 and Rad51 in chromatin fractions, as observed under irradiation-induced DNA double-strand breaks	PubMed
	vpr	Results from GST pull-down assays show the association of Vpr with p53 in extracts containing Sp1, suggesting the physical interaction of Vpr with Sp1 and p53 could modulate transcriptional activity of p21	PubMed
	vpr	Activation of p21/Waf1/Cip1 by HIV-1 Vpr appears to be regulated by p53	PubMed
	vpr	HIV-1 Vpr can neutralize inhibitory effects of the human homologue of yeast Rad23 protein A (hHR23A) on p53, thereby activating p53 transcriptional activity	PubMed
	vpr	Overexpression of p53 decreases the level of activation of the viral LTR promoter by HIV-1 Vpr	PubMed
Vpu	vpu	HIV-1 Vpu expression results in significant upregulation of phosphorylated p53. Vpu contributes to p53-dependent apoptosis in HIV-1-infected cells	PubMed
	vpu	HIV-1 Vpu expression leads to stabilization and upregulation of p53 via inhibiting association of p53 with beta-TrCP and its subsequent ubiquitination	PubMed
integrase	gag-pol	HIV-1 IN-mediated proviral DNA integration triggers cell death during HIV-1 infection. The mechanism of killing during viral integration involves activation of DNA-PK, which causes phosphorylation of p53 and histone gammaH2AX	PubMed
reverse transcriptase	gag-pol	Tumor suppressor protein p53 displays 3' --> 5' exonuclease activity, and interaction of p53 with HIV-1 reverse transcriptase (RT) can provide a proofreading function for HIV-1 RT	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:604633 (e-PCR)
- UniSTS:158212

GDB:605513 (e-PCR)
- UniSTS:158213

PMC340938P3 (e-PCR)
- UniSTS:273171

GDB:606441 (e-PCR)
- UniSTS:158229

PMC105081P1 (e-PCR)
- UniSTS:270116

D17S1678 (e-PCR)
- UniSTS:82485

PMC122799P1 (e-PCR)
- UniSTS:270407

PMC122799P2 (e-PCR)
- UniSTS:270408

GDB:177724 (e-PCR)
- UniSTS:154952

PMC122799P3 (e-PCR)
- UniSTS:270409

TP53_278 (e-PCR)
- UniSTS:277840

GDB:177797 (e-PCR)
- UniSTS:154963

GDB:177814 (e-PCR)
- UniSTS:154969

GDB:227151 (e-PCR)
- UniSTS:156250

WI-20715 (e-PCR)
- UniSTS:59997

GDB:181271 (e-PCR)
- UniSTS:155232

GDB:181272 (e-PCR)
- UniSTS:155233

GDB:186560 (e-PCR)
- UniSTS:155496

GDB:363686 (e-PCR)
- UniSTS:156783

GDB:363689 (e-PCR)
- UniSTS:156784

GDB:363692 (e-PCR)
- UniSTS:156785

D1S1423 (e-PCR)
- UniSTS:149619

GDB:363698 (e-PCR)
- UniSTS:156787

GDB:363701 (e-PCR)
- UniSTS:156788

GDB:363704 (e-PCR)
- UniSTS:156789

GDB:363724 (e-PCR)
- UniSTS:156790

GDB:363795 (e-PCR)
- UniSTS:156792

GDB:186921 (e-PCR)
- UniSTS:155522

GDB:186984 (e-PCR)
- UniSTS:155527

GDB:178567 (e-PCR)
- UniSTS:155019

D11S3114 (e-PCR)
- UniSTS:152207

D17S1506E (e-PCR)
- UniSTS:151711

GDB:316876 (e-PCR)
- UniSTS:156580

GDB:181608 (e-PCR)
- UniSTS:155314

PMC135765P1 (e-PCR)
- UniSTS:270771

PMC135765P2 (e-PCR)
- UniSTS:270772

GDB:188738 (e-PCR)
- UniSTS:155578

PMC22021P1 (e-PCR)
- UniSTS:272087

PMC22021P2 (e-PCR)
- UniSTS:272088

PMC22021P3 (e-PCR)
- UniSTS:272089

PMC22021P4 (e-PCR)
- UniSTS:272090

GDB:190076 (e-PCR)
- UniSTS:155620

PMC310707P2 (e-PCR)
- UniSTS:272633

PMC60253P1 (e-PCR)
- UniSTS:273402

PMC156059P1 (e-PCR)
- UniSTS:271356

Homology

Homologs of the TP53 gene: The TP53 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 246 organisms have orthologs with human gene TP53
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IDA Inferred from Direct Assay more info	PubMed
DNA binding	IDA Inferred from Direct Assay more info	PubMed
DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
MDM2/MDM4 family protein binding	IEA Inferred from Electronic Annotation more info
RNA polymerase II proximal promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
RNA polymerase II proximal promoter sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
RNA polymerase II transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
TFIID-class transcription factor complex binding	IPI Inferred from Physical Interaction more info	PubMed
chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
chromatin binding	IDA Inferred from Direct Assay more info	PubMed
copper ion binding	IDA Inferred from Direct Assay more info	PubMed
core promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
disordered domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
histone acetyltransferase binding	IPI Inferred from Physical Interaction more info	PubMed
histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
histone deacetylase regulator activity	IEA Inferred from Electronic Annotation more info
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
mRNA 3'-UTR binding	IDA Inferred from Direct Assay more info	PubMed
p53 binding	IPI Inferred from Physical Interaction more info	PubMed
promoter-specific chromatin binding	IDA Inferred from Direct Assay more info	PubMed
protease binding	IPI Inferred from Physical Interaction more info	PubMed
protein N-terminus binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
protein phosphatase 2A binding	IPI Inferred from Physical Interaction more info	PubMed
protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
protein self-association	IPI Inferred from Physical Interaction more info	PubMed
receptor tyrosine kinase binding	IPI Inferred from Physical Interaction more info	PubMed
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
B cell lineage commitment	IEA Inferred from Electronic Annotation more info
DNA damage response, signal transduction by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
DNA damage response, signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IMP Inferred from Mutant Phenotype more info	PubMed
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS Traceable Author Statement more info
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA Inferred from Direct Assay more info	PubMed
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
DNA strand renaturation	IDA Inferred from Direct Assay more info	PubMed
ER overload response	IDA Inferred from Direct Assay more info	PubMed
Ras protein signal transduction	IEP Inferred from Expression Pattern more info	PubMed
T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
T cell lineage commitment	IEA Inferred from Electronic Annotation more info
T cell proliferation involved in immune response	IEA Inferred from Electronic Annotation more info
autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
bone marrow development	IMP Inferred from Mutant Phenotype more info	PubMed
cardiac septum morphogenesis	IEA Inferred from Electronic Annotation more info
cell aging	IMP Inferred from Mutant Phenotype more info	PubMed
cell cycle arrest	IDA Inferred from Direct Assay more info	PubMed
cell cycle arrest	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to DNA damage stimulus	IDA Inferred from Direct Assay more info	PubMed
cellular response to DNA damage stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to UV	IDA Inferred from Direct Assay more info	PubMed
cellular response to UV-C	IEA Inferred from Electronic Annotation more info
cellular response to actinomycin D	IDA Inferred from Direct Assay more info	PubMed
cellular response to drug	IEP Inferred from Expression Pattern more info	PubMed
cellular response to gamma radiation	IDA Inferred from Direct Assay more info	PubMed
cellular response to glucose starvation	IDA Inferred from Direct Assay more info	PubMed
cellular response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
cellular response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed
cerebellum development	IEA Inferred from Electronic Annotation more info
chromatin assembly	IDA Inferred from Direct Assay more info	PubMed
circadian behavior	ISS Inferred from Sequence or Structural Similarity more info
cytokine-mediated signaling pathway	TAS Traceable Author Statement more info
determination of adult lifespan	ISS Inferred from Sequence or Structural Similarity more info
double-strand break repair	IEA Inferred from Electronic Annotation more info
embryonic organ development	IEA Inferred from Electronic Annotation more info
entrainment of circadian clock by photoperiod	ISS Inferred from Sequence or Structural Similarity more info
gastrulation	IEA Inferred from Electronic Annotation more info
hematopoietic progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
hematopoietic stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
in utero embryonic development	IEA Inferred from Electronic Annotation more info
interferon-gamma-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
intrinsic apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
intrinsic apoptotic signaling pathway by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info
intrinsic apoptotic signaling pathway in response to hypoxia	IEA Inferred from Electronic Annotation more info
mRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
mitochondrial DNA repair	IEA Inferred from Electronic Annotation more info
mitotic G1 DNA damage checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
mitotic cell cycle arrest	IEA Inferred from Electronic Annotation more info
multicellular organism growth	IEA Inferred from Electronic Annotation more info
necroptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of DNA replication	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of glucose catabolic process to lactate via pyruvate	IEA Inferred from Electronic Annotation more info
negative regulation of helicase activity	TAS Traceable Author Statement more info	PubMed
negative regulation of mitophagy	IEA Inferred from Electronic Annotation more info
negative regulation of neuroblast proliferation	IEA Inferred from Electronic Annotation more info
negative regulation of pentose-phosphate shunt	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of production of miRNAs involved in gene silencing by miRNA	IEA Inferred from Electronic Annotation more info
negative regulation of proteolysis	IEA Inferred from Electronic Annotation more info
negative regulation of reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
negative regulation of telomerase activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
negative regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
neuron apoptotic process	IEA Inferred from Electronic Annotation more info
nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
oligodendrocyte apoptotic process	IDA Inferred from Direct Assay more info	PubMed
oxidative stress-induced premature senescence	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of RNA polymerase II transcriptional preinitiation complex assembly	IDA Inferred from Direct Assay more info	PubMed
positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cardiac muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
positive regulation of cell aging	IEA Inferred from Electronic Annotation more info
positive regulation of cell cycle arrest	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell cycle arrest	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of cell cycle arrest	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of execution phase of apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of histone deacetylation	IEA Inferred from Electronic Annotation more info
positive regulation of intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of intrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of mitochondrial membrane permeability	IEA Inferred from Electronic Annotation more info
positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
positive regulation of peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of pri-miRNA transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
positive regulation of pri-miRNA transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of production of miRNAs involved in gene silencing by miRNA	IDA Inferred from Direct Assay more info	PubMed
positive regulation of protein export from nucleus	TAS Traceable Author Statement more info
positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS Traceable Author Statement more info
positive regulation of reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed
positive regulation of thymocyte apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IEA Inferred from Electronic Annotation more info
positive regulation of transcription from RNA polymerase II promoter in response to stress	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
protein deubiquitination	TAS Traceable Author Statement more info
protein import into nucleus	IEA Inferred from Electronic Annotation more info
protein localization	IDA Inferred from Direct Assay more info	PubMed
protein stabilization	IEA Inferred from Electronic Annotation more info
protein tetramerization	IEA Inferred from Electronic Annotation more info
protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
rRNA transcription	IEA Inferred from Electronic Annotation more info
regulation of DNA damage response, signal transduction by p53 class mediator	IEA Inferred from Electronic Annotation more info
regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
regulation of apoptotic process	TAS Traceable Author Statement more info
regulation of cell cycle G2/M phase transition	TAS Traceable Author Statement more info
regulation of cellular senescence	IEA Inferred from Electronic Annotation more info
regulation of fibroblast apoptotic process	IEA Inferred from Electronic Annotation more info
regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IEA Inferred from Electronic Annotation more info
regulation of mitochondrial membrane permeability involved in apoptotic process	IEA Inferred from Electronic Annotation more info
regulation of signal transduction by p53 class mediator	TAS Traceable Author Statement more info
regulation of tissue remodeling	IEA Inferred from Electronic Annotation more info
regulation of transcription from RNA polymerase II promoter in response to DNA damage	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
release of cytochrome c from mitochondria	IEA Inferred from Electronic Annotation more info
replicative senescence	IMP Inferred from Mutant Phenotype more info	PubMed
response to X-ray	IEA Inferred from Electronic Annotation more info
response to antibiotic	IEP Inferred from Expression Pattern more info	PubMed
response to gamma radiation	IMP Inferred from Mutant Phenotype more info	PubMed
response to ischemia	IEA Inferred from Electronic Annotation more info
response to salt stress	IEA Inferred from Electronic Annotation more info
signal transduction by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
somitogenesis	IEA Inferred from Electronic Annotation more info
transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
tumor necrosis factor-mediated signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
viral process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
PML body	IDA Inferred from Direct Assay more info	PubMed
centrosome	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
mitochondrial matrix	IEA Inferred from Electronic Annotation more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with nuclear body	IDA Inferred from Direct Assay more info	PubMed
nuclear chromatin	IDA Inferred from Direct Assay more info	PubMed
nuclear chromatin	IMP Inferred from Mutant Phenotype more info	PubMed
nuclear chromatin	ISA Inferred from Sequence Alignment more info
nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
nuclear membrane	IDA Inferred from Direct Assay more info
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed
replication fork	IEA Inferred from Electronic Annotation more info
site of double-strand break	IEA Inferred from Electronic Annotation more info
colocalizes_with transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed
transcription factor complex	IGI Inferred from Genetic Interaction more info	PubMed

General protein information

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Preferred Names: cellular tumor antigen p53

Names: antigen NY-CO-13; mutant tumor protein 53; p53 tumor suppressor; phosphoprotein p53; transformation-related protein 53; tumor protein 53; tumor supressor p53

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_017013.2 RefSeqGene

Range

5001..24149

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_321

mRNA and Protein(s)

NM_000546.6 → NP_000537.3 cellular tumor antigen p53 isoform a

See identical proteins and their annotated locations for NP_000537.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) can initiate translation from two in-frame AUG start codons. The isoform represented in this variant (a, also known as p53alpha) results from translation initiation at the upstream start codon. Both variants 1 and 2 encode isoform a, which is the longest isoform.

Source sequence(s)

AK223026, DA453049, X02469

Consensus CDS

CCDS11118.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

K7PPA8, Q53GA5

Related

ENSP00000269305.4, ENST00000269305.8

Conserved Domains (4) summary

cd08367
Location:109 → 288

P53; P53 DNA-binding domain

pfam07710
Location:319 → 355

P53_tetramer; P53 tetramerisation motif

pfam08563
Location:6 → 30

P53_TAD; P53 transactivation motif

pfam18521
Location:35 → 59

TAD2; Transactivation domain 2
NM_001126112.3 → NP_001119584.1 cellular tumor antigen p53 isoform a

See identical proteins and their annotated locations for NP_001119584.1

Status: REVIEWED

Source sequence(s)

AC007421, AC087388

Consensus CDS

CCDS11118.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

K7PPA8, Q53GA5

Related

ENSP00000391478.2, ENST00000445888.6

Conserved Domains (4) summary

cd08367
Location:109 → 288

P53; P53 DNA-binding domain

pfam07710
Location:319 → 355

P53_tetramer; P53 tetramerisation motif

pfam08563
Location:6 → 30

P53_TAD; P53 transactivation motif

pfam18521
Location:35 → 59

TAD2; Transactivation domain 2
NM_001126113.3 → NP_001119585.1 cellular tumor antigen p53 isoform c

See identical proteins and their annotated locations for NP_001119585.1

Status: REVIEWED

Source sequence(s)

AC007421, AC087388

Consensus CDS

CCDS45605.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

Q53GA5

Related

ENSP00000398846.2, ENST00000455263.6

Conserved Domains (2) summary

pfam00870
Location:95 → 289

P53; P53 DNA-binding domain

pfam08563
Location:5 → 28

P53_TAD; P53 transactivation motif
NM_001126114.3 → NP_001119586.1 cellular tumor antigen p53 isoform b

See identical proteins and their annotated locations for NP_001119586.1

Status: REVIEWED

Source sequence(s)

AC007421, AC087388

Consensus CDS

CCDS45606.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

Q53GA5

Related

ENSP00000391127.2, ENST00000420246.6

Conserved Domains (2) summary

pfam00870
Location:95 → 289

P53; P53 DNA-binding domain

pfam08563
Location:5 → 28

P53_TAD; P53 transactivation motif
NM_001126115.2 → NP_001119587.1 cellular tumor antigen p53 isoform d

See identical proteins and their annotated locations for NP_001119587.1

Status: REVIEWED

Source sequence(s)

AC007421, AC087388

Consensus CDS

CCDS73966.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

Q53GA5

Related

ENSP00000481179.1, ENST00000504937.5

Conserved Domains (2) summary

pfam07710
Location:187 → 226

P53_tetramer; P53 tetramerization motif

cl14608
Location:1 → 157

P53; P53 DNA-binding domain
NM_001126116.2 → NP_001119588.1 cellular tumor antigen p53 isoform e

See identical proteins and their annotated locations for NP_001119588.1

Status: REVIEWED

Source sequence(s)

AC007421, AC087388

Consensus CDS

CCDS73968.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

Q53GA5

Related

ENSP00000478499.1, ENST00000510385.5

Conserved Domains (1) summary

cl14608
Location:1 → 157

P53; P53 DNA-binding domain
NM_001126117.2 → NP_001119589.1 cellular tumor antigen p53 isoform f

See identical proteins and their annotated locations for NP_001119589.1

Status: REVIEWED

Source sequence(s)

AC007421, AC087388

Consensus CDS

CCDS73967.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

Q53GA5

Related

ENSP00000484409.1, ENST00000504290.5

Conserved Domains (1) summary

cl14608
Location:1 → 157

P53; P53 DNA-binding domain
NM_001126118.2 → NP_001119590.1 cellular tumor antigen p53 isoform g

See identical proteins and their annotated locations for NP_001119590.1

Status: REVIEWED

Source sequence(s)

AC007421, AC087388

Consensus CDS

CCDS73969.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

H2EHT1, Q53GA5

Related

ENSP00000478219.1, ENST00000610292.4

Conserved Domains (2) summary

pfam00870
Location:56 → 250

P53; P53 DNA-binding domain

pfam07710
Location:280 → 319

P53_tetramer; P53 tetramerisation motif
NM_001276695.3 → NP_001263624.1 cellular tumor antigen p53 isoform h

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an additional exon in the 3' coding region, resulting in an alternate 3' coding region and 3' UTR, compared to variant 1. This variant can initiate translation from two in-frame AUG start codons. The isoform represented in this variant (h, also known as delta40p53gamma) results from translation initiation at the downstream start codon. It has a shorter N-terminus and a distinct C-terminus, compared to isoform a.

Source sequence(s)

AK223026, DA453049, DQ186649

Consensus CDS

CCDS73970.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

Q53GA5

Related

ENSP00000480868.1, ENST00000610538.4

Conserved Domains (1) summary

pfam00870
Location:56 → 250

P53; P53 DNA-binding domain
NM_001276696.3 → NP_001263625.1 cellular tumor antigen p53 isoform i

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an additional exon in the 3' region, resulting in an alternate 3' coding region and 3' UTR, compared to variant 1. This variant can initiate translation from two in-frame AUG start codons. The isoform represented in this variant (i, also known as delta40p53beta) results from translation initiation at the downstream start codon. It has a shorter N-terminus and a distinct C-terminus, compared to isoform a.

Source sequence(s)

AK223026, DA453049, DQ186648, DQ186649

Consensus CDS

CCDS73971.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

Q53GA5

Related

ENSP00000482222.1, ENST00000622645.4

Conserved Domains (1) summary

pfam00870
Location:56 → 250

P53; P53 DNA-binding domain
NM_001276697.3 → NP_001263626.1 cellular tumor antigen p53 isoform j

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate promoter and lacks multiple 5' exons, compared to variant 1. This variant can initiate translation from two in-frame AUG start codons. The isoform represented in this variant (j, also known as delta160p53alpha) results from translation initiation at the downstream start codon. It has a shorter N-terminus, compared to isoform a. This variant is supported by data in PMID:16131611.

Source sequence(s)

AK223026, DQ186650

Consensus CDS

CCDS73963.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

A0A087X1Q1, Q53GA5

Conserved Domains (2) summary

pfam07710
Location:160 → 199

P53_tetramer; P53 tetramerisation motif

cl14608
Location:1 → 130

P53; P53 DNA-binding domain
NM_001276698.3 → NP_001263627.1 cellular tumor antigen p53 isoform k

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate promoter and lacks multiple 5' exons, compared to variant 1. This variant can initiate translation from two in-frame AUG start codons. The isoform represented in this variant (k, also known as delta160p53beta) results from translation initiation at the downstream start codon. It has a shorter N-terminus and a distinct C-terminus, compared to isoform a. This variant is supported by data in PMID:16131611.

Source sequence(s)

AK223026, DQ186651

Consensus CDS

CCDS73965.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

A0A087WXZ1, Q53GA5

Related

ENSP00000481401.1, ENST00000618944.4

Conserved Domains (1) summary

cl14608
Location:1 → 130

P53; P53 DNA-binding domain
NM_001276699.3 → NP_001263628.1 cellular tumor antigen p53 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (7) uses an alternate promoter and lacks multiple 5' exons, compared to variant 1. This variant can initiate translation from two in-frame AUG start codons. The isoform represented in this variant (l, also known as delta160p53gamma) results from translation initiation at the downstream start codon. It has a shorter N-terminus and a distinct C-terminus, compared to isoform a. This variant is supported by data in PMID:16131611.

Source sequence(s)

AK223026, DQ186652

Consensus CDS

CCDS73964.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

A0A087WT22, Q53GA5

Related

ENSP00000477531.1, ENST00000610623.4

Conserved Domains (1) summary

cl14608
Location:1 → 130

P53; P53 DNA-binding domain
NM_001276760.3 → NP_001263689.1 cellular tumor antigen p53 isoform g

See identical proteins and their annotated locations for NP_001263689.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) can initiate translation from two in-frame AUG start codons. The isoform represented in this variant (g, also known as delta40p53alpha or deltaNp53) results from translation initiation at the downstream start codon. It has a shorter N-terminus, compared to isoform a. Variants 1, 2, and 8 encode isoform g.

Source sequence(s)

AK223026, DA453049, X02469

Consensus CDS

CCDS73969.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

H2EHT1, Q53GA5

Related

ENSP00000481638.1, ENST00000620739.4

Conserved Domains (2) summary

pfam00870
Location:56 → 250

P53; P53 DNA-binding domain

pfam07710
Location:280 → 319

P53_tetramer; P53 tetramerisation motif
NM_001276761.3 → NP_001263690.1 cellular tumor antigen p53 isoform g

See identical proteins and their annotated locations for NP_001263690.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. This variant can initiate translation from two in-frame AUG start codons. The isoform represented in this variant (g, also known as delta40p53alpha or deltaNp53) results from translation initiation at the downstream start codon. It has a shorter N-terminus, compared to isoform a. Variants 1, 2, and 8 encode isoform g.

Source sequence(s)

AB082923, AK223026, DA453049, X02469

Consensus CDS

CCDS73969.1

UniProtKB/Swiss-Prot

P04637

UniProtKB/TrEMBL

H2EHT1, Q53GA5

Related

ENSP00000482537.1, ENST00000619485.4

Conserved Domains (2) summary

pfam00870
Location:56 → 250

P53; P53 DNA-binding domain

pfam07710
Location:280 → 319

P53_tetramer; P53 tetramerisation motif