Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium

Cell. 1995 Apr 21;81(2):289-98. doi: 10.1016/0092-8674(95)90339-9.


Mutations in the PKD1 gene are the most common cause of autosomal dominant polycystic kidney disease (ADPKD). Other PKD1-like loci on chromosome 16 are approximately 97% identical to PKD1. To determine the authentic PKD1 sequence, we obtained the genomic sequence of the PKD1 locus and assembled a PKD1 transcript from the sequence of 46 exons. The 14.5 kb PKD1 transcript encodes a 4304 amino acid protein that has a novel domain architecture. The amino-terminal half of the protein consists of a mosaic of previously described domains, including leucine-rich repeats flanked by characteristic cysteine-rich structures, LDL-A and C-type lectin domains, and 14 units of a novel 80 amino acid domain. The presence of these domains suggests that the PKD1 protein is involved in adhesive protein-protein and protein-carbohydrate interactions in the extracellular compartment. We propose a hypothesis that links the predicted properties of the protein with the diverse phenotypic features of ADPKD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Chromosomes, Human, Pair 16 / genetics*
  • DNA, Complementary / genetics
  • Exons / genetics
  • Genome, Human
  • Genomic Library
  • Humans
  • Molecular Sequence Data
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Protein Conformation
  • Proteins / genetics*
  • RNA, Messenger / genetics
  • Sequence Alignment / methods
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • TRPP Cation Channels


  • DNA, Complementary
  • Proteins
  • RNA, Messenger
  • TRPP Cation Channels
  • polycystic kidney disease 1 protein

Associated data

  • GENBANK/U24497
  • GENBANK/U24498
  • GENBANK/U24499