The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.
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.
Hughes
J
J
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.
Ward
C J
CJ
Peral
B
B
Aspinwall
R
R
Clark
K
K
San Millán
J L
JL
Gamble
V
V
Harris
P C
PC
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D003001:Cloning, Molecular; D003198:Computer Simulation; D018076:DNA, Complementary / Q000032:analysis; D005353:Fibronectins / Q000235:genetics; D006801:Humans; D008562:Membrane Glycoproteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D016891:Polycystic Kidney, Autosomal Dominant / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D014176:Protein Biosynthesis; D011487:Protein Conformation; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D051381:Rats; D012091:Repetitive Sequences, Nucleic Acid; D017386:Sequence Homology, Amino Acid; D050396:TRPP Cation Channels
D018076:DNA, Complementary; D005353:Fibronectins; D008562:Membrane Glycoproteins; D011506:Proteins; D050396:TRPP Cation Channels