1b4r | pdb_00001b4r
PKD DOMAIN 1 FROM HUMAN POLYCYSTEIN-1
|
Overview
Most cases of autosomal dominant polycystic kidney disease (ADPKD) are the result of mutations in the PKD1 gene. The PKD1 gene codes for a large cell-surface glycoprotein, polycystin-1, of unknown function, which, based on its predicted domain structure, may be involved in protein-protein and protein-carbohydrate interactions. Approximately 30% of polycystin-1 consists of 16 copies of a novel protein module called the PKD domain. Here we show that this domain has a beta-sandwich fold. Although this fold is common to a number of cell-surface modules, the PKD domain represents a distinct protein family. The tenth PKD domain of human and Fugu polycystin-1 show extensive conservation of surface residues suggesting that this region could be a ligand-binding site. This structure will allow the likely effects of missense mutations in a large part of the PKD1 gene to be determined.
Disease
Known disease associated with this structure: Polycystic kidney disease, adult type I OMIM:[601313]
About this Structure
1B4R is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease., Bycroft M, Bateman A, Clarke J, Hamill SJ, Sandford R, Thomas RL, Chothia C, EMBO J. 1999 Jan 15;18(2):297-305. PMID:9889186
Page seeded by OCA on Thu Feb 21 11:51:31 2008
