Abstract
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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Animals
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Base Sequence
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Cattle
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Chromosome Mapping
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Chromosomes, Human, Pair 16
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Cloning, Molecular
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Computer Simulation
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DNA, Complementary / analysis
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Fibronectins / genetics
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Humans
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Membrane Glycoproteins / biosynthesis
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Membrane Glycoproteins / chemistry
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Membrane Glycoproteins / genetics*
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Models, Molecular
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Molecular Sequence Data
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Polycystic Kidney, Autosomal Dominant / chemistry
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Polycystic Kidney, Autosomal Dominant / genetics*
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Polycystic Kidney, Autosomal Dominant / metabolism
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Protein Biosynthesis
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Protein Conformation
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Proteins / chemistry
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Proteins / genetics*
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Rats
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Repetitive Sequences, Nucleic Acid
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Sequence Homology, Amino Acid
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TRPP Cation Channels
Substances
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DNA, Complementary
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Fibronectins
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Membrane Glycoproteins
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Proteins
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TRPP Cation Channels
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polycystic kidney disease 1 protein
Associated data
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GENBANK/L33243
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GENBANK/L43601
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GENBANK/L43602
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GENBANK/L43604
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GENBANK/L43605
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GENBANK/L43610
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GENBANK/L43617
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GENBANK/L43618
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GENBANK/L43619