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Title: Pkd1  
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Subject: Autosomal dominant polycystic kidney, List of genetic disorders, Potter sequence, TRPP, Polycystic kidney disease, Autosomal recessive polycystic kidney, C-type lectin, Rap1
Publisher: World Heritage Encyclopedia


Polycystic kidney disease 1 (autosomal dominant)
PDB rendering based on 1b4r.
Available structures
PDB Ortholog search: RCSB
PKD1 Gene
RNA expression pattern

Polycystin-1 is a protein that in humans is encoded by the PKD1 gene.[1][2]

Gene product


Polycystin-1 is a glycoprotein which contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It may function as an integral membrane protein involved in cell-cell/matrix interactions, and may modulate intracellular calcium homoeostasis and other signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene have been associated with autosomal dominant polycystic kidney disease.


Polycystin-1 has been shown to interact with polycystin-2[3][4] and RGS7.[5]


Splice variants encoding different isoforms have been noted for PKD1. The gene is closely linked to six pseudogenes in a known duplicated region on chromosome 16p.[6]

See also


External links

  • GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Dominant

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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