Referenced in: none

Automatically associated channels: TRP

Title: A high-resolution structure of the EF-hand domain of human polycystin-2.

Authors: Mark D Allen, Seema Qamar, Murali K Vadivelu, Richard N Sandford, Mark Bycroft

Journal, date & volume: Protein Sci., 2014 Sep , 23, 1301-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24990821

Abstract
Autosomal dominant polycystic kidney disease (ADPKD) affects over 1:1000 of the worldwide population and is caused by mutations in two genes, PKD1 and PKD2. PKD2 encodes a 968-amino acid membrane spanning protein, Polycystin-2 (PC-2), which is a member of the TRP ion channel family. The C-terminal cytoplasmic tail contains an EF-hand motif followed by a short coiled-coil domain. We have determined the structure of the EF-hand region of PC-2 using NMR spectroscopy. The use of different boundaries, compared with those used in previous studies, have enabled us to determine a high resolution structure and show that the EF hand motif forms a standard calcium-binding pocket. The affinity of this pocket for calcium has been measured and mutants that both decrease and increase its affinity for the metal ion have been created.