The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

Nat Genet. 1995 Jun;10(2):151-60. doi: 10.1038/ng0695-151.

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

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

  • DNA, Complementary
  • Fibronectins
  • Membrane Glycoproteins
  • Proteins
  • TRPP Cation Channels
  • polycystic kidney disease 1 protein

Associated data

  • GENBANK/L33243
  • GENBANK/L43601
  • GENBANK/L43602
  • GENBANK/L43604
  • GENBANK/L43605
  • GENBANK/L43610
  • GENBANK/L43617
  • GENBANK/L43618
  • GENBANK/L43619