This gene encodes tumor protein p53, which responds to diverse cellular stresses to regulate target genes that induce cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. p53 protein is expressed at low level in normal cells and at a high level in a variety of transformed cell lines, where it"s believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing transcription activation, DNA-binding, and oligomerization domains. It is postulated to bind to a p53-binding site and activate expression of downstream genes that inhibit growth and/or invasion, and thus function as a tumor suppressor. Mutants of p53 that frequently occur in a number of different human cancers fail to bind the consensus DNA binding site, and hence cause the loss of tumor suppressor activity. Alterations of this gene occur not only as somatic mutations in human malignancies, but also as germline mutations in some cancer-prone families with Li-Fraumeni syndrome. Multiple p53 variants due to alternative promoters and multiple alternative splicing have been found. These variants encode distinct isoforms, which can regulate p53 transcriptional activity.
Activation of BH3-only proteins, organism-specific biosystem; Activation of NOXA and translocation to mitochondria, organism-specific biosystem; Activation of PUMA and translocation to mitochondria, organism-specific biosystem; Amyotrophic lateral sclerosis (ALS), organism-specific biosystem; Amyotrophic lateral sclerosis (ALS), conserved biosystem; Androgen Receptor Signaling Pathway, organism-specific biosystem; Apoptosis, organism-specific biosystem;
ATP binding; DNA binding; DNA strand annealing activity; MDM2 binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; RNA polymerase II transcription factor binding; chaperone binding; chromatin binding; copper ion binding; damaged DNA binding; enzyme binding; histone acetyltransferase binding; histone deacetylase regulator activity; identical protein binding; metal ion binding; p53 binding; protease binding; protein N-terminus binding; protein binding; protein heterodimerization activity; protein kinase binding; protein phosphatase 2A binding; sequence-specific DNA binding transcription factor activity; transcription factor binding; transcription regulatory region DNA binding; ubiquitin protein ligase binding; zinc ion binding;