[HTML][HTML] The structure of a PKD domain from polycystin‐1: implications for polycystic kidney disease
The EMBO journal, 1999•embopress.org
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 β‐sandwich fold. Although this fold is common to a number …
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 β‐sandwich fold. Although this fold is common to a number …
Abstract
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 β‐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.
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