Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7157
Gene name Gene Name - the full gene name approved by the HGNC.
Tumor protein p53
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TP53
Synonyms (NCBI Gene) Gene synonyms aliases
BCC7, BMFS5, LFS1, P53, TRP53
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Summary Summary of gene provided in NCBI Entrez 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 arr
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1042522 G>A,C,T Drug-response, benign, uncertain-significance Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs1800371 G>A,T Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs11540652 C>A,G,T Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic Coding sequence variant, missense variant
rs11540654 C>A,G,T Not-provided, likely-pathogenic, pathogenic, uncertain-significance Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs11575996 C>A,T Likely-pathogenic Coding sequence variant, synonymous variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000535 hsa-miR-125b-5p Review, Luciferase reporter assay, Western blot 20216554
MIRT000535 hsa-miR-125b-5p Review 20006673
MIRT000535 hsa-miR-125b-5p Review 20029422
MIRT000535 hsa-miR-125b-5p In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot 19293287
MIRT000535 hsa-miR-125b-5p In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot 19293287
Transcription factors
Transcription factor Regulation Reference
AATF Unknown 17157788
ABL1 Activation 11753601
ATF3 Unknown 22991139
BDP1 Unknown 12734418
CREBBP Unknown 15154850
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10329733, 15340061
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS 19749791
GO:0000423 Process Mitophagy IEA
GO:0000785 Component Chromatin IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191170 11998 ENSG00000141510
Protein
UniProt ID P04637
Protein name Cellular tumor antigen p53 (Antigen NY-CO-13) (Phosphoprotein p53) (Tumor suppressor p53)
Protein function Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17
PDB 1A1U , 1AIE , 1C26 , 1DT7 , 1GZH , 1H26 , 1HS5 , 1JSP , 1KZY , 1MA3 , 1OLG , 1OLH , 1PES , 1PET , 1SAE , 1SAF , 1SAK , 1SAL , 1TSR , 1TUP , 1UOL , 1XQH , 1YC5 , 1YCQ , 1YCR , 1YCS , 2AC0 , 2ADY , 2AHI , 2ATA , 2B3G , 2BIM , 2BIN , 2BIO , 2BIP , 2BIQ , 2F1X , 2FEJ , 2FOJ , 2FOO , 2GS0 , 2H1L , 2H2D , 2H2F , 2H4F , 2H4H , 2H4J , 2H59 , 2J0Z , 2J10 , 2J11
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08563 P53_TAD 6 30 P53 transactivation motif Motif
PF18521 TAD2 35 59 Transactivation domain 2 Domain
PF00870 P53 99 289 P53 DNA-binding domain Domain
PF07710 P53_tetramer 319 358 P53 tetramerisation motif Motif
Tissue specificity 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 fet
Sequence
Sequence length 393
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocrine resistance
Platinum drug resistance
MAPK signaling pathway
Sphingolipid signaling pathway
Cell cycle
p53 signaling pathway
Mitophagy - animal
PI3K-Akt signaling pathway
Apoptosis
Longevity regulating pathway
Ferroptosis
Cellular senescence
Wnt signaling pathway
Neurotrophin signaling pathway
Thyroid hormone signaling pathway
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Shigellosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Pathways in cancer
Transcriptional misregulation in cancer
Viral carcinogenesis
Proteoglycans in cancer
MicroRNAs in cancer
Colorectal cancer
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Thyroid cancer
Basal cell carcinoma
Melanoma
Bladder cancer
Chronic myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Central carbon metabolism in cancer
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
  Activation of NOXA and translocation to mitochondria
Activation of PUMA and translocation to mitochondria
Pre-NOTCH Transcription and Translation
Oxidative Stress Induced Senescence
Formation of Senescence-Associated Heterochromatin Foci (SAHF)
Oncogene Induced Senescence
DNA Damage/Telomere Stress Induced Senescence
SUMOylation of transcription factors
Autodegradation of the E3 ubiquitin ligase COP1
TP53 Regulates Metabolic Genes
Ub-specific processing proteases
Ovarian tumor domain proteases
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Interleukin-4 and Interleukin-13 signaling
TP53 Regulates Transcription of DNA Repair Genes
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
TP53 Regulates Transcription of Caspase Activators and Caspases
TP53 Regulates Transcription of Death Receptors and Ligands
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
Regulation of TP53 Expression
Regulation of TP53 Activity through Phosphorylation
Regulation of TP53 Degradation
Regulation of TP53 Activity through Acetylation
Regulation of TP53 Activity through Association with Co-factors
Regulation of TP53 Activity through Methylation
PI5P Regulates TP53 Acetylation
G2/M DNA damage checkpoint
G2/M Checkpoints
Stabilization of p53
Transcriptional activation of cell cycle inhibitor p21
The role of GTSE1 in G2/M progression after G2 checkpoint
Transcriptional Regulation by VENTX
RUNX3 regulates CDKN1A transcription
Regulation of PTEN gene transcription
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
acute myeloid leukemia Acute myeloid leukemia rs121912660, rs765848205, rs1131691004, rs863224451, rs876660821 N/A
Adrenocortical carcinoma adrenocortical carcinoma, hereditary rs1064792930, rs730881999, rs863224499, rs786202525, rs587782664, rs121912666, rs1060501197, rs876658483, rs1131691039, rs1064794618, rs863224451, rs530941076, rs1567554500, rs55863639, rs769697802
View all (30 more)
N/A
Breast Cancer Malignant tumor of breast rs866380588, rs587782620 N/A
Carcinoma squamous cell carcinoma rs786202962, rs121912654 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Astrocytoma astrocytoma N/A N/A ClinVar
Bone Marrow Failure Syndrome bone marrow failure syndrome 5 N/A N/A GenCC
Endometrial carcinoma endometrial carcinoma N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 10732753, 26655088
3C syndrome Associate 36948887
AA amyloidosis Associate 16460008, 22715097, 30602570, 31028175, 32715544, 38212344
Abdominal Injuries Associate 12853702
Abdominal Neoplasms Associate 33759598
Abnormal Karyotype Associate 10974058, 30598078, 31010849, 7718890
Abnormalities Drug Induced Inhibit 11755215, 22228453
Abnormalities Drug Induced Associate 15923430, 24061469, 33057635, 34224111, 34803919, 36394085, 7599041
Abortion Habitual Stimulate 28661480, 28865602, 30848022
Abortion Spontaneous Associate 30848022, 34618298, 35483139