TP63 (NM_003722) - tumor protein p63
Tumor Protein 63 Isoform 1
Legend
Protein
Kinases
Sites
Color corresponds to (the most severe) impact of mutations on given site:
Interactions
If you have any questions or feedback about this protein:
Contact us
PTM Interaction Network Visualisation
Protein summary
This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. 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. [provided by RefSeq, Aug 2016].
- Strand
- +
- Chromosome
- 3
- Protein
- 680 residues
- All mutations
- 211
- PTM sites
- 21
- CDS
- 189,349,304 - 189,612,291
- Transcription
- 189,349,215 - 189,615,068
Usage summary
Network
PTM site
Kinases group
|
Kinase, PTM site or protein
|