TP53: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

TP53

Aliases

BCC7, BMFS5, LFS1, P53, TRP53

Entrez Gene ID

7157

Gene Name

Tumor protein p53

Chromosomal Location

17p13.1

HGNC ID

HGNC:11998

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]

RefSeq DNA

NG_017013.2

RefSeq mRNA

NM_001276695.2, NM_001276696.2, NM_001276697.2, NM_001276698.2, NM_001276699.2, NM_001276760.2, NM_001276761.2, NM_000546.5, NM_001126112.2, NM_001126114.2, NM_001126113.2, NM_001126115.1, NM_001126116.1, NM_001126117.1, NM_001126118.1

e!Ensembl

Gene	ENSG00000141510
Transcript	ENST00000413465, ENST00000635293, ENST00000359597, ENST00000504290, ENST00000510385, ENST00000504937, ENST00000619186, ENST00000618944, ENST00000610623, ENST00000610292, ENST00000269305, ENST00000620739, ENST00000455263, ENST00000420246, ENST00000622645, ENST00000610538, ENST00000445888, ENST00000619485, ENST00000576024, ENST00000509690, ENST00000514944, ENST00000508793, ENST00000604348, ENST00000503591, ENST00000617185, ENST00000615910
Protein	ENSP00000410739, ENSP00000488924, ENSP00000352610, ENSP00000484409, ENSP00000478499, ENSP00000481179, ENSP00000484375, ENSP00000481401, ENSP00000477531, ENSP00000478219, ENSP00000269305, ENSP00000481638, ENSP00000398846, ENSP00000391127, ENSP00000482222, ENSP00000480868, ENSP00000391478, ENSP00000482537, ENSP00000458393, ENSP00000425104, ENSP00000423862, ENSP00000424104, ENSP00000473895, ENSP00000426252, ENSP00000482258, ENSP00000482903

Gene Ontology (GO)

Show/Hide all(138 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	ISS	19749791
GO:0000733	Biological process	DNA strand renaturation	IDA	8183576
GO:0002244	Biological process	Hematopoietic progenitor cell differentiation	IMP	30146126
GO:0006284	Biological process	Base-excision repair	TAS	15116721
GO:0006289	Biological process	Nucleotide-excision repair	IMP	7663514
GO:0006355	Biological process	Regulation of transcription, DNA-templated	IDA	7587074
GO:0006355	Biological process	Regulation of transcription, DNA-templated	IMP	25417702
GO:0006914	Biological process	Autophagy	IMP	23629966
GO:0006974	Biological process	Cellular response to DNA damage stimulus	IDA	14744935, 15710329, 17938203
GO:0006974	Biological process	Cellular response to DNA damage stimulus	IMP	24356969
GO:0006977	Biological process	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IMP	16213212
GO:0006978	Biological process	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA	16213212
GO:0006978	Biological process	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IMP	7958916, 16479015
GO:0006983	Biological process	ER overload response	IDA	14744935
GO:0007050	Biological process	Cell cycle arrest	IDA	15149599
GO:0007050	Biological process	Cell cycle arrest	IMP	7958916, 10962037
GO:0007265	Biological process	Ras protein signal transduction	IEP	9054499
GO:0007275	Biological process	Multicellular organism development	IMP	10065150
GO:0007569	Biological process	Cell aging	IMP	12080348
GO:0008104	Biological process	Protein localization	IDA	16507995
GO:0008283	Biological process	Cell proliferation	TAS	10065150
GO:0008285	Biological process	Negative regulation of cell proliferation	IDA	22783376
GO:0008285	Biological process	Negative regulation of cell proliferation	IMP	12730672
GO:0009299	Biological process	MRNA transcription	IMP	16479015
GO:0010332	Biological process	Response to gamma radiation	IMP	7958916
GO:0010628	Biological process	Positive regulation of gene expression	IDA	15314173, 20332243
GO:0010628	Biological process	Positive regulation of gene expression	IMP	19160485
GO:0016032	Biological process	Viral process	IMP	22574148
GO:0030154	Biological process	Cell differentiation	TAS	10065150
GO:0030308	Biological process	Negative regulation of cell growth	IMP	8986812
GO:0030330	Biological process	DNA damage response, signal transduction by p53 class mediator	IDA	15149599
GO:0030330	Biological process	DNA damage response, signal transduction by p53 class mediator	IMP	20160708
GO:0031497	Biological process	Chromatin assembly	IDA	16322561
GO:0031571	Biological process	Mitotic G1 DNA damage checkpoint	IMP	7958916
GO:0032461	Biological process	Positive regulation of protein oligomerization	IDA	12667443
GO:0034644	Biological process	Cellular response to UV	IDA	16213212, 23629966
GO:0035690	Biological process	Cellular response to drug	IEP	20810912
GO:0042149	Biological process	Cellular response to glucose starvation	IDA	14744935, 21471221
GO:0042771	Biological process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA	14654789, 14744935, 17403783
GO:0042771	Biological process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP	16213212
GO:0042981	Biological process	Regulation of apoptotic process	IDA	14744935
GO:0043065	Biological process	Positive regulation of apoptotic process	IDA	12667443, 15565177, 20959462
GO:0043066	Biological process	Negative regulation of apoptotic process	IMP	20124405
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IDA	24051492
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IMP	23629966
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	ISS	19749791
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IDA	16322561, 17403783, 18549481, 20378837
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IMP	20096447
GO:0045899	Biological process	Positive regulation of RNA polymerase II transcriptional preinitiation complex assembly	IDA	24289924
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	11672523, 17145718, 17310983, 17599062, 18549481, 20959462, 24652652
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IGI	16061649
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IMP	17146433, 24356969
GO:0046677	Biological process	Response to antibiotic	IEP	20810912
GO:0046902	Biological process	Regulation of mitochondrial membrane permeability	TAS	15116721
GO:0048147	Biological process	Negative regulation of fibroblast proliferation	IMP	10962037
GO:0048539	Biological process	Bone marrow development	IMP	30146126
GO:0050731	Biological process	Positive regulation of peptidyl-tyrosine phosphorylation	ISS	19749791
GO:0051097	Biological process	Negative regulation of helicase activity	TAS	7663514
GO:0051123	Biological process	RNA polymerase II preinitiation complex assembly	IDA	24289924
GO:0051262	Biological process	Protein tetramerization	TAS	15116721
GO:0051289	Biological process	Protein homotetramerization	IDA	19011621
GO:0051289	Biological process	Protein homotetramerization	IMP	15629713
GO:0051974	Biological process	Negative regulation of telomerase activity	IDA	10597287
GO:0060218	Biological process	Hematopoietic stem cell differentiation	IMP	30146126
GO:0065003	Biological process	Protein-containing complex assembly	IDA	12915590
GO:0071158	Biological process	Positive regulation of cell cycle arrest	IDA	15314173
GO:0071158	Biological process	Positive regulation of cell cycle arrest	IMP	21471221
GO:0071456	Biological process	Cellular response to hypoxia	IEP	20810912
GO:0071479	Biological process	Cellular response to ionizing radiation	IMP	20160708
GO:0071480	Biological process	Cellular response to gamma radiation	IDA	16213212
GO:0072331	Biological process	Signal transduction by p53 class mediator	IDA	15314173
GO:0072332	Biological process	Intrinsic apoptotic signaling pathway by p53 class mediator	IMP	12172011, 16322561, 17310983
GO:0072717	Biological process	Cellular response to actinomycin D	IDA	15314173
GO:0090200	Biological process	Positive regulation of release of cytochrome c from mitochondria	IDA	12667443, 14963330
GO:0090399	Biological process	Replicative senescence	IMP	19951988
GO:0090403	Biological process	Oxidative stress-induced premature senescence	IMP	19951988
GO:0097193	Biological process	Intrinsic apoptotic signaling pathway	TAS	16462759
GO:0097252	Biological process	Oligodendrocyte apoptotic process	IDA	7720704
GO:1900119	Biological process	Positive regulation of execution phase of apoptosis	IMP	14985081
GO:1902895	Biological process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IDA	20546595
GO:1903800	Biological process	Positive regulation of production of miRNAs involved in gene silencing by miRNA	IDA	26100857
GO:2000379	Biological process	Positive regulation of reactive oxygen species metabolic process	IMP	20160708
GO:2001244	Biological process	Positive regulation of intrinsic apoptotic signaling pathway	IMP	14963330, 27031958
GO:0000790	Cellular component	Nuclear chromatin	IDA	15710329, 17805299, 22521434, 23629966, 24289924
GO:0005634	Cellular component	Nucleus	IDA	7720704, 14744935, 14963330, 16322561, 16507995, 17403783, 18756595, 19011621, 19234109, 20096447, 20810912, 24101517, 24289924
GO:0005634	Cellular component	Nucleus	IMP	16479015
GO:0005654	Cellular component	Nucleoplasm	IDA	11080164, 12915590
GO:0005667	Cellular component	Transcription factor complex	IGI	17145718
GO:0005669	Cellular component	Transcription factor TFIID complex	IDA	15053879
GO:0005730	Cellular component	Nucleolus	IDA	12080348
GO:0005737	Cellular component	Cytoplasm	IDA	7720704, 14744935, 16131611, 19011621, 20096447, 20810912, 23629966
GO:0005737	Cellular component	Cytoplasm	IMP	16479015
GO:0005739	Cellular component	Mitochondrion	IDA	12667443, 24101517
GO:0005829	Cellular component	Cytosol	IDA	14963330, 24101517
GO:0016363	Cellular component	Nuclear matrix	IDA	11080164
GO:0016604	Cellular component	Nuclear body	IDA	10360174
GO:0016605	Cellular component	PML body	IDA	12006491, 22869143
GO:0032991	Cellular component	Protein-containing complex	IDA	9529249, 17310983
GO:0032991	Cellular component	Protein-containing complex	IMP	15629713
GO:0000978	Molecular function	RNA polymerase II proximal promoter sequence-specific DNA binding	IDA	24289924
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	17310983, 24289924, 24652652
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	19274049
GO:0001046	Molecular function	Core promoter sequence-specific DNA binding	IDA	23629966
GO:0001085	Molecular function	RNA polymerase II transcription factor binding	IPI	18549481
GO:0001094	Molecular function	TFIID-class transcription factor complex binding	IPI	24289924
GO:0001228	Molecular function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	17145718, 17146433
GO:0002020	Molecular function	Protease binding	IPI	11923872
GO:0002039	Molecular function	P53 binding	IPI	25417702
GO:0003677	Molecular function	DNA binding	IDA	15358771
GO:0003677	Molecular function	DNA binding	IMP	2144364, 15629713
GO:0003682	Molecular function	Chromatin binding	IDA	16322561, 17599062
GO:0003700	Molecular function	DNA-binding transcription factor activity	IDA	7587074, 18549481
GO:0003700	Molecular function	DNA-binding transcription factor activity	IMP	16479015
GO:0003730	Molecular function	MRNA 3'-UTR binding	IDA	16213212
GO:0005507	Molecular function	Copper ion binding	IDA	7824276
GO:0005515	Molecular function	Protein binding	IPI	1465435, 7663514, 7799929, 8207801, 8344494, 8675009, 8875926, 8875929, 9050995, 9188558, 9194564, 9194565, 9380510, 9472015, 9529249, 9807817, 9827557, 10196247, 10226625, 10518217, 10597287, 10608892, 10823891, 11080164, 11146555, 11178989, 11359905, 11388671, 11427532, 11672523, 11
GO:0005524	Molecular function	ATP binding	IDA	8183576
GO:0008134	Molecular function	Transcription factor binding	IPI	15053879, 15705871, 19505873
GO:0008270	Molecular function	Zinc ion binding	TAS	10065153
GO:0019899	Molecular function	Enzyme binding	IPI	7663514, 10666337, 11672523, 11781842, 15044383, 15577914, 17805299, 20173098
GO:0019901	Molecular function	Protein kinase binding	IPI	11546806, 21317932
GO:0019903	Molecular function	Protein phosphatase binding	IPI	20562916
GO:0030971	Molecular function	Receptor tyrosine kinase binding	IPI	23027130
GO:0031625	Molecular function	Ubiquitin protein ligase binding	IPI	8875929, 9529249, 10415337, 17121812, 18382127
GO:0035035	Molecular function	Histone acetyltransferase binding	IPI	9194565, 10518217
GO:0042802	Molecular function	Identical protein binding	IMP	15629713
GO:0042802	Molecular function	Identical protein binding	IPI	14985081, 16291740, 16461914, 17612295, 17620598, 18087040, 19339993, 19667193, 20004160, 20159469, 20364130, 21178074, 21522129, 21988832, 22653443, 22972749, 25402006, 25609649
GO:0042803	Molecular function	Protein homodimerization activity	IDA	19011621
GO:0042826	Molecular function	Histone deacetylase binding	IPI	23629966
GO:0043621	Molecular function	Protein self-association	IPI	14985081
GO:0044212	Molecular function	Transcription regulatory region DNA binding	IDA	15710329, 17996705
GO:0046982	Molecular function	Protein heterodimerization activity	IPI	10837489
GO:0047485	Molecular function	Protein N-terminus binding	IPI	11861836
GO:0051087	Molecular function	Chaperone binding	IPI	15358771, 18086682
GO:0051721	Molecular function	Protein phosphatase 2A binding	IPI	17245430
GO:0097718	Molecular function	Disordered domain specific binding	IPI	15629713
GO:1990841	Molecular function	Promoter-specific chromatin binding	IDA	20725088, 24356969

Protein Information

Protein Name

Cellular tumor antigen p53, antigen NY-CO-13, mutant tumor protein 53, p53 tumor suppressor, phosphoprotein p53, transformation-related protein 53, tumor protein 53, tumor supressor p53

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. 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).

Refseq Proteins

NP_001263624.1, NP_001263625.1, NP_001263626.1, NP_001263627.1, NP_001263628.1, NP_001263689.1, NP_001263690.1, NP_000537.3, NP_001119584.1, NP_001119586.1, NP_001119585.1, NP_001119587.1, NP_001119588.1, NP_001119589.1, NP_001119590.1

UniProt

P04637

PDB

3LW1, 5MHC, 5MOC, 1YCS, 2MEJ, 1JSP, 1H26, 2K8F, 2MZD, 5XZC, 2LY4, 3OQ5, 1YCR, 4HFZ, 2MWY, 3DAB, 5UN8, 1A1U, 1AIE, 1C26, 1DT7, 1GZH, 1HS5, 1KZY, 1MA3, 1OLG, 1OLH, 1PES, 1PET, 1SAE, 1SAF, 1SAK, 1SAL, 1TSR, 1TUP, 1UOL, 1XQH, 1YC5, 1YCQ, 2AC0, 2ADY, 2AHI, 2ATA, 2B3G, 2BIM, 2BIN, 2BIO, 2BIP, 2BIQ, 2F1X, 2FEJ,