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Genetics Home Reference: your guide to understanding genetic conditions
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PKD1

Reviewed June 2006

What is the official name of the PKD1 gene?

The official name of this gene is “polycystic kidney disease 1 (autosomal dominant).”

PKD1 is the gene's official symbol. The PKD1 gene is also known by other names, listed below.

What is the normal function of the PKD1 gene?

The PKD1 gene provides instructions for making a protein called polycystin-1. This protein is most active in kidney cells before birth; much less of the protein is made in normal adult kidneys. Although its exact function is not well understood, polycystin-1 appears to interact with a smaller, somewhat similar protein called polycystin-2.

Polycystin-1 spans the cell membrane of kidney cells, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This positioning of the protein allows it to interact with other proteins, carbohydrates, and fat molecules (lipids) outside the cell and to receive signals that help the cell respond to its environment. When a molecule binds to polycystin-1 on the surface of the cell, the protein interacts with polycystin-2 to trigger a cascade of chemical reactions inside the cell. These chemical reactions instruct the cell to undergo certain changes, such as maturing to take on specialized functions. Polycystin-1 and polycystin-2 likely work together to help regulate cell growth and division (proliferation), cell movement (migration), and interactions with other cells.

Polycystin-1 is also found in cell structures called primary cilia. Primary cilia are tiny, fingerlike projections that line the small tubes where urine is formed (renal tubules). Researchers believe that primary cilia sense the movement of fluid through these tubules, which appears to help maintain the tubules' size and structure. The interaction of polycystin-1 and polycystin-2 in renal tubules promotes the normal development and function of the kidneys.

Does the PKD1 gene share characteristics with other genes?

The PKD1 gene belongs to a family of genes called TRP (transient receptor potential cation channels).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the PKD1 gene related to health conditions?

polycystic kidney disease - caused by mutations in the PKD1 gene

More than 250 mutations in the PKD1 gene have been identified in people with polycystic kidney disease. These mutations are responsible for about 85 percent of cases of autosomal dominant polycystic kidney disease (ADPKD), which is the most common type of this disorder. Mutations in the PKD1 gene include deletions or insertions of DNA building blocks (base pairs) and alterations of one or more base pairs. Most PKD1 mutations are predicted to produce an abnormally small, nonfunctional version of the polycystin-1 protein. Although researchers are uncertain how a lack of polycystin-1 leads to the formation of cysts, it probably disrupts the protein's signaling function within the cell and in primary cilia. As a result, cells lining the renal tubules may grow and divide abnormally, leading to the growth of numerous cysts characteristic of polycystic kidney disease.

Where is the PKD1 gene located?

Cytogenetic Location: 16p13.3

Molecular Location on chromosome 16: base pairs 2,088,707 to 2,135,897

The PKD1 gene is located on the short (p) arm of chromosome 16 at position 13.3.

The PKD1 gene is located on the short (p) arm of chromosome 16 at position 13.3.

More precisely, the PKD1 gene is located from base pair 2,088,707 to base pair 2,135,897 on chromosome 16.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PKD1?

You and your healthcare professional may find the following resources about PKD1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PKD1 gene or gene products?

  • Lov-1
  • PBP
  • PC1
  • Pc-1
  • PKD1_HUMAN
  • polycystin-1
  • TRPP1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PKD1?

autosomal ; autosomal dominant ; cell ; cell adhesion ; cell membrane ; cysts ; DNA ; gene ; kidney ; molecule ; polycystic kidney ; proliferation ; protein ; renal

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Al-Bhalal L, Akhtar M. Molecular basis of autosomal dominant polycystic kidney disease. Adv Anat Pathol. 2005 May;12(3):126-33. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15900113?dopt=Abstract)
  • Bissler JJ, Dixon BP. A mechanistic approach to inherited polycystic kidney disease. Pediatr Nephrol. 2005 May;20(5):558-66. Epub 2005 Feb 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15719257?dopt=Abstract)
  • Boucher C, Sandford R. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). Eur J Hum Genet. 2004 May;12(5):347-54. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14872199?dopt=Abstract)
  • Gene Review: Polycystic Kidney Disease, Autosomal Dominant (http://www.ncbi.nlm.nih.gov/books/NBK1246/)
  • Horie S. ADPKD: molecular characterization and quest for treatment. Clin Exp Nephrol. 2005 Dec;9(4):282-91. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16362154?dopt=Abstract)
  • Lina F, Satlinb LM. Polycystic kidney disease: the cilium as a common pathway in cystogenesis. Curr Opin Pediatr. 2004 Apr;16(2):171-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15021197?dopt=Abstract)
  • Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AE, Lu W, Brown EM, Quinn SJ, Ingber DE, Zhou J. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet. 2003 Feb;33(2):129-37. Epub 2003 Jan 6. (http://www.ncbi.nlm.nih.gov/pubmed/12514735?dopt=Abstract)
  • Nauli SM, Rossetti S, Kolb RJ, Alenghat FJ, Consugar MB, Harris PC, Ingber DE, Loghman-Adham M, Zhou J. Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction. J Am Soc Nephrol. 2006 Apr;17(4):1015-25. (http://www.ncbi.nlm.nih.gov/pubmed/16565258?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5310)
  • Ong AC, Harris PC. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney Int. 2005 Apr;67(4):1234-47. (http://www.ncbi.nlm.nih.gov/pubmed/15780076?dopt=Abstract)
  • Wilson PD. Polycystic kidney disease. N Engl J Med. 2004 Jan 8;350(2):151-64. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14711914?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2006
Published: August 25, 2014