1b4r

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Revision as of 13:59, 12 November 2007

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PKD DOMAIN 1 FROM HUMAN POLYCYSTEIN-1

Contents 1 Overview 2 Disease 3 About this Structure 4 Reference

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

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