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:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17189187, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:38653238, PubMed:9840937). Negatively regulates cell division by controlling expression of a set of genes required for this process (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:9840937). 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 (PubMed:12524540, PubMed:17189187). 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-BMAL1-mediated transcriptional activation of PER2 (PubMed:24051492). {ECO:0000269|PubMed:11025664, ECO:0000269|PubMed:12524540, ECO:0000269|PubMed:12810724, ECO:0000269|PubMed:15186775, ECO:0000269|PubMed:15340061, ECO:0000269|PubMed:17189187, ECO:0000269|PubMed:17317671, ECO:0000269|PubMed:17349958, ECO:0000269|PubMed:19556538, ECO:0000269|PubMed:20673990, ECO:0000269|PubMed:20959462, ECO:0000269|PubMed:22726440, ECO:0000269|PubMed:24051492, ECO:0000269|PubMed:24652652, ECO:0000269|PubMed:35618207, ECO:0000269|PubMed:36634798, ECO:0000269|PubMed:38653238, ECO:0000269|PubMed:9840937}.
Chromosome
17
Biotype
protein_coding
Diseases
25
Variants
50
Also Known As
25 disease associations found
| Disease | Score | Therapeutic Areas |
|---|---|---|
| Li-Fraumeni syndrome | 0.88 | cancer or benign tumornervous system diseasegenetic, familial or congenital disease |
| hepatocellular carcinoma | 0.80 | endocrine system diseasegastrointestinal diseasecancer or benign tumor |
| head and neck squamous cell carcinoma | 0.78 | cancer or benign tumor |
| Hereditary breast cancer | 0.74 | integumentary system diseasegenetic, familial or congenital diseasereproductive system or breast diseasecancer or benign tumor |
| hereditary breast carcinoma | 0.74 | cancer or benign tumorintegumentary system diseasegenetic, familial or congenital diseasereproductive system or breast disease |
| colorectal cancer | 0.74 | gastrointestinal diseasecancer or benign tumor |
| lung adenocarcinoma | 0.73 | cancer or benign tumorrespiratory or thoracic disease |
| esophageal cancer | 0.73 | gastrointestinal diseasecancer or benign tumor |
| choroid plexus papilloma | 0.72 | cancer or benign tumornervous system diseasegenetic, familial or congenital diseasecardiovascular disease |
| acute myeloid leukemia | 0.72 | immune system diseasecancer or benign tumormusculoskeletal or connective tissue diseasehematologic disease |
| bone marrow failure syndrome | 0.72 | immune system diseasegenetic, familial or congenital diseasehematologic diseasemusculoskeletal or connective tissue disease |
| bone osteosarcoma | 0.71 | cancer or benign tumormusculoskeletal or connective tissue disease |
| breast adenocarcinoma | 0.71 | reproductive system or breast diseaseintegumentary system diseasecancer or benign tumor |
| nasopharyngeal carcinoma | 0.70 | respiratory or thoracic diseasecancer or benign tumorinfectious diseasegastrointestinal disease |
| urinary bladder cancer | 0.69 | urinary system diseasecancer or benign tumor |
9 drugs targeting this gene
Cellular tumor antigen p53 stabiliser
Tumour suppressor p53/oncoprotein Mdm2 inhibitor
Tumour suppressor p53/oncoprotein Mdm2 inhibitor
Cellular tumor antigen p53 exogenous gene
50 variants reported
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