2Y9T: Structural basis of p63a SAM domain mutants involved in AEC syndrome

p63 is a member of the p53 tumour suppressor family that includes p73. The p63 gene encodes a protein comprising an N-terminal transactivation domain, a DNA binding domain and an oligomerization domain, but varies in the organization of the C-terminus as a result of complex alternative splicing. p63alpha contains a C-terminal sterile alpha motif (SAM) domain that is thought to function as a protein-protein interaction domain. Several missense and heterozygous frame shift mutations, encoded within exon 13 and 14 of the p63 gene, have been identified in the p63alpha SAM domain in patients suffering from ankyloblepharon-ectodermal dysplasia-clefting syndrome. Here we report the solution and high resolution crystal structures of the p63alpha SAM domain and investigate the effect of several mutations (L553F/V, C562G/W, G569V, Q575L and I576T) on the stability of the domain. The possible effects of other mutations are also discussed.
PDB ID: 2Y9TDownload
MMDB ID: 92294
PDB Deposition Date: 2011/2/16
Updated in MMDB: 2011/08
Experimental Method:
solution nmr
Source Organism:
Similar Structures:
Biological Unit for 2Y9T: monomeric; determined by author
Molecular Components in 2Y9T
Label Count Molecule
Protein (1 molecule)
Tumor Protein 63(Gene symbol: TP63)
Molecule annotation
* Click molecule labels to explore molecular sequence information.

Citing MMDB