P51a Protein (TP63) Antibody – Rabbit Polyclonal

This gene encodes a member of the p53 family of transcription factors. An animal model, p63 -/- mice, has been useful in defining the role this protein plays in the development and maintenance of stratified epithelial tissues. p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. Both alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different proteins. Many transcripts encoding different proteins have been reported but the biological validity and the full-length nature of these variants have not been determined. [provided by RefSeq]

p63: Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG2. Plays a role in the regulation of epithelial morphogenesis. The ratio of DeltaN-type and TA*-type isoforms may govern the maintenance of epithelial stem cell compartments and regulate the initiation of epithelial stratification from the undifferentiated embryonal ectoderm. Required for limb formation from the apical ectodermal ridge. Activates transcription of the p21 promoter. Binds DNA as a homotetramer. Isoform composition of the tetramer may determine transactivation activity. Isoforms Alpha and Gamma interact with HIPK2. Interacts with SSRP1, leading to stimulate coactivator activity. Isoform 1 and isoform 2 interact with WWP1. Interacts with PDS5A. Isoform 5 (via activation domain) interacts with NOC2L. Widely expressed, notably in heart, kidney, placenta, prostate, skeletal muscle, testis and thymus, although the precise isoform varies according to tissue type. Progenitor cell layers of skin, breast, eye and prostate express high levels of DeltaN-type isoforms. Isoform 10 is predominantly expressed in skin squamous cell carcinomas, but not in normal skin tissues. Belongs to the p53 family. 12 isoforms of the human protein are produced by alternative promoter.

Protein type: Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 3q28

Cellular Component: nucleoplasm; transcription factor complex; rough endoplasmic reticulum; dendrite; nuclear chromatin; cytoplasm; nucleus; cytosol; chromatin

Molecular Function: identical protein binding; protein binding; DNA binding; sequence-specific DNA binding; p53 binding; metal ion binding; double-stranded DNA binding; WW domain binding; damaged DNA binding; chromatin binding; transcription factor activity

Biological Process: G1 DNA damage checkpoint; ectoderm and mesoderm interaction; apoptosis; positive regulation of transcription, DNA-dependent; cloacal septation; epidermal cell division; negative regulation of transcription from RNA polymerase II promoter; regulation of caspase activity; protein homotetramerization; smooth muscle development; polarized epithelial cell differentiation; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; sympathetic nervous system development; regulation of neuron apoptosis; positive regulation of mesenchymal cell proliferation; epithelial cell development; response to gamma radiation; establishment of planar polarity; skeletal development; female genitalia morphogenesis; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; proximal/distal pattern formation; positive regulation of Notch signaling pathway; response to X-ray; embryonic limb morphogenesis; Notch signaling pathway; regulation of epidermal cell division; hair follicle morphogenesis; urinary bladder development; transcription, DNA-dependent; negative regulation of keratinocyte differentiation; multicellular organismal aging; keratinocyte proliferation; replicative cell aging; odontogenesis of dentine-containing teeth; keratinocyte differentiation; chromatin remodeling; positive regulation of osteoblast differentiation; neuron apoptosis; spermatogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; response to DNA damage stimulus; negative regulation of apoptosis

Disease: Ankyloblepharon-ectodermal Defects-cleft Lip/palate; Rapp-hodgkin Syndrome; Adult Syndrome; Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Split-hand/foot Malformation 4; Limb-mammary Syndrome