TP53 Tumor Protein P53

Guardian of the Genome: Key Tumor Suppressor Gene in Cancer Biology

Gene Information Card

Symbol TP53
Full Name Tumor Protein P53
Gene Type Protein coding
Chromosomal Location 17p13.1
NCBI Gene ID 7157 ncbi.nlm.nih.gov/gene/7157
Ensembl ID ENSG00000141510
UniProt ID P04637
OMIM ID 191170
HGNC ID 11998
Aliases P53, BCC7, LFS1, TRP53

Description

TP53 encodes the tumor suppressor protein p53, a transcription factor that regulates cell cycle arrest, apoptosis, senescence, DNA repair, and metabolism in response to cellular stress. It is frequently mutated in human cancers, with over 50% of all tumors harboring TP53 alterations. Loss of p53 function contributes to genomic instability and tumor progression.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Li-Fraumeni syndrome Germline TP53 mutations lead to loss of tumor suppression, predisposing to multiple early-onset cancers OMIM #151623
Breast cancer Somatic TP53 mutations impair DNA damage response and apoptosis, promoting tumorigenesis COSMIC; ClinVar
Colorectal cancer TP53 loss of function allows evasion of apoptosis and continued proliferation despite DNA damage NCBI Gene; COSMIC
Lung cancer TP53 mutations are common in non-small cell lung cancer, associated with poor prognosis ClinVar; COSMIC
Ovarian cancer High-grade serous ovarian carcinoma frequently shows TP53 mutations, driving genomic instability COSMIC; OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Spleen 10.2 Medium
Lymph node 9.8 Medium
Bone marrow 8.5 Medium
Brain 4.3 Low
Cell Line Expression
Cell Line nTPM Notes
A549 (lung carcinoma) 15.0 High expression
MCF7 (breast carcinoma) 12.3 Medium expression
HeLa (cervical carcinoma) 10.1 Medium expression
HCT116 (colorectal carcinoma) 14.5 High expression
K562 (leukemia) 9.0 Medium expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
p.R175H Missense ~5% in COSMIC Loss of DNA binding; gain of oncogenic functions
p.R248W Missense ~4% in COSMIC Loss of transactivation; dominant negative effect
p.R273H Missense ~6% in COSMIC Loss of DNA binding; gain of function
p.G245S Missense ~3% in COSMIC Structural disruption; loss of function
p.R337H Missense ~1% in COSMIC Altered oligomerization; associated with Li-Fraumeni-like syndrome
Mutation functional classification

Loss of Function (LOF)

Most common; missense mutations in DNA-binding domain (e.g., R175H, G245S) abolish transcriptional activity, impairing cell cycle arrest and apoptosis.

Gain of Function (GOF)

Certain mutants (e.g., R175H, R273H) acquire new oncogenic properties, promoting invasion, metastasis, and chemoresistance independent of wild-type p53.

Dominant Negative (DN)

Mutant p53 can oligomerize with wild-type p53, inhibiting its function in heterozygous cells, often seen in Li-Fraumeni syndrome.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/7157
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53

Gene Ontology (GO)

• DNA-binding transcription factor activity (GO:0003700) • Protein binding (GO:0005515)
• Apoptotic process (GO:0006915) • Cell cycle arrest (GO:0007050)
• DNA damage response (GO:0006974)

Pathways

• p53 signaling pathway (KEGG hsa04115)
• Apoptosis (KEGG hsa04210)
• Cell cycle (KEGG hsa04110)
• miRNAs in cancer (KEGG hsa05206)

Protein Summary

The p53 protein (UniProt P04637) is a 393-amino acid transcription factor with N-terminal transactivation domain, central DNA-binding domain, tetramerization domain, and C-terminal regulatory domain. It acts as a homotetramer to regulate hundreds of target genes involved in cell cycle control, apoptosis, DNA repair, and metabolism. Post-translational modifications (phosphorylation, acetylation) modulate its stability and activity. Mutations predominantly cluster in the DNA-binding domain, disrupting sequence-specific DNA binding.

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Related Products

Product name Cat.No. Species Gene ID
TP53 Knockout HCT 116 Cell Line EDC07854 Human 7157 Details Get a Quote
TP53BP2 Knockout HEK293 Cell Line EDJ-KQ1381 Human 7159 Details Get a Quote
TP53BP1 Knockout HEK293 Cell Line EDJ-KQ3793 Human 7158 Details Get a Quote
TP53I11 Knockout HEK293 Cell Line EDJ-KQ6629 Human 9537 Details Get a Quote
TP53I3 Knockout HEK293 Cell Line EDJ-KQ6637 Human 9540 Details Get a Quote
TP53I13 Knockout HEK293 Cell Line EDJ-KQ10577 Human 90313 Details Get a Quote
TP53INP1 Knockout HEK293 Cell Line EDJ-KQ11304 Human 94241 Details Get a Quote
TP53TG3B Knockout HEK293 Cell Line EDJ-KQ15097 Human 729355 Details Get a Quote
TP53AIP1 Knockout HEK293 Cell Line EDJ-KQ15888 Human 63970 Details Get a Quote
TP53INP2 Knockout HEK293 Cell Line EDJ-KQ15889 Human 58476 Details Get a Quote
TP53TG3C Knockout HEK293 Cell Line EDJ-KQ15890 Human 653550 Details Get a Quote
TP53TG3D Knockout HEK293 Cell Line EDJ-KQ15891 Human 729264 Details Get a Quote
TP53TG3E Knockout HEK293 Cell Line EDJ-KQ15892 Human 102724101 Details Get a Quote
TP53TG3F Knockout HEK293 Cell Line EDJ-KQ15893 Human 102724127 Details Get a Quote
TP53 Knockout HEK293 Cell Line EDJ-KQ17910 Human 7157 Details Get a Quote
Displaying Records 1 To 15 Of 93 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/7157
OMIM https://www.omim.org/entry/191170
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11998
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141510
UniProt https://www.uniprot.org/uniprot/P04637
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=TP53%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53
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