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Hughes, J, Ward, CJ, Peral, B, Aspinwall, R, Clark, K, San Millán, JL, Gamble, V and Harris, PC (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat. Genet. 10:151-60

Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16. We have used an exon linking strategy, taking RNA from a cell line containing PKD1 but not the duplicate loci, to clone a cDNA contig of the entire transcript. The transcript consists of 14,148 bp (including a correction to the previously described C terminus), distributed among 46 exons spanning 52 kb. The predicted PKD1 protein, polycystin, is a glycoprotein with multiple transmembrane domains and a cytoplasmic C-tail. The N-terminal extracellular region of over 2,500 aa contains leucine-rich repeats, a C-type lectin, 16 immunoglobulin-like repeats and four type III fibronectin-related domains. Our results indicate that polycystin is an integral membrane protein involved in cell-cell/matrix interactions.

PubMed Online version:10.1038/ng0695-151

Amino Acid Sequence; Animals; Base Sequence; Cattle; Chromosome Mapping; Chromosomes, Human, Pair 16; Cloning, Molecular; Computer Simulation; DNA, Complementary/analysis; Fibronectins/genetics; Humans; Membrane Glycoproteins/biosynthesis; Membrane Glycoproteins/chemistry; Membrane Glycoproteins/genetics; Models, Molecular; Molecular Sequence Data; Polycystic Kidney, Autosomal Dominant/chemistry; Polycystic Kidney, Autosomal Dominant/genetics; Polycystic Kidney, Autosomal Dominant/metabolism; Protein Biosynthesis; Protein Conformation; Proteins/chemistry; Proteins/genetics; Rats; Repetitive Sequences, Nucleic Acid; Sequence Homology, Amino Acid; TRPP Cation Channels