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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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.[1]

References

  1. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Hughes, J., Ward, C.J., Peral, B., Aspinwall, R., Clark, K., San Millán, J.L., Gamble, V., Harris, P.C. Nat. Genet. (1995) [Pubmed]
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