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  Domain Name: P53
P53 DNA-binding domain. P53 is a tumor suppressor gene product; mutations in p53 or lack of expression are found associated with a large fraction of all human cancers. P53 is activated by DNA damage and acts as a regulator of gene expression that ultimatively blocks progression through the cell cycle. P53 binds to DNA as a tetrameric transcription factor. In its inactive form, p53 is bound to the ring finger protein Mdm2, which promotes its ubiquitinylation and subsequent proteosomal degradation. Phosphorylation of p53 disrupts the Mdm2-p53 complex, while the stable and active p53 binds to regulatory regions of its target genes, such as the cyclin-kinase inhibitor p21, which complexes and inactivates cdk2 and other cyclin complexes.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 379
Total Disease Mutations Found: 118
This domain occurred 3 times on human genes (35 proteins).



  3
  ADRENOCORTICAL CARCINOMA, PEDIATRIC
  ADULT SYNDROME
  ADULT SYNDROME, INCLUDED
  BREAST CANCER, SOMATIC
  CERVICAL CANCER, SOMATIC, INCLUDED
  CHOROID PLEXUS CARCINOMA, INCLUDED
  COLORECTAL CANCER
  ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
  GLIOMA SUSCEPTIBILITY 1
  HEPATOBLASTOMA
  HEPATOCELLULAR CARCINOMA, SOMATIC
  LI-FRAUMENI SYNDROME 1
  LI-FRAUMENI-LIKE SYNDROME
  NASOPHARYNGEAL CARCINOMA, SOMATIC
  OROFACIAL CLEFT 8
  OSTEOSARCOMA, INCLUDED
  RAPP-HODGKIN SYNDROME, INCLUDED
  SPLIT-HAND/FOOT MALFORMATION 4
  THYROID CARCINOMA, ANAPLASTIC, SOMATIC, INCLUDED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
DNA binding site
zinc binding site
dimerization site















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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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