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Genetics Home Reference: your guide to understanding genetic conditions
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KCNJ1

Reviewed February 2011

What is the official name of the KCNJ1 gene?

The official name of this gene is “potassium inwardly-rectifying channel, subfamily J, member 1.”

KCNJ1 is the gene's official symbol. The KCNJ1 gene is also known by other names, listed below.

What is the normal function of the KCNJ1 gene?

The KCNJ1 gene belongs to a large family of genes that produce potassium channels. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.

The specific function of a potassium channel depends on its protein components and its location in the body. Channels made with the KCNJ1 protein, also known as ROMK, are predominantly found in the kidneys. ROMK is one of several proteins that work together to regulate the movement of ions into and out of kidney cells. In particular, the transport of potassium ions by ROMK is necessary for the normal function of another ion transporter called NKCC2 (which is produced from the SLC12A1 gene). This transporter plays an essential role in the reabsorption of salt (sodium chloride or NaCl) from the urine back into the bloodstream. The retention of salt affects the body's fluid levels and helps maintain blood pressure.

Does the KCNJ1 gene share characteristics with other genes?

The KCNJ1 gene belongs to a family of genes called KCN (potassium 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 KCNJ1 gene related to health conditions?

Bartter syndrome - caused by mutations in the KCNJ1 gene

Several dozen mutations in the KCNJ1 gene have been identified in people with Bartter syndrome type II. This form of the disorder causes severe or life-threatening health problems that become apparent before or soon after birth.

Some of the KCNJ1 gene mutations responsible for Bartter syndrome change single protein building blocks (amino acids) in the ROMK protein. These mutations prevent the protein from reaching the cell membrane or alter the channel's ability to transport potassium ions. Other mutations in the KCNJ1 gene delete amino acids from the protein or lead to the production of an abnormally short, nonfunctional version of ROMK.

A loss of functional ROMK affects the normal activity of the NKCC2 protein, preventing it from transporting ions into kidney cells. As a result, the kidneys cannot reabsorb salt normally and excess salt is lost through the urine (salt wasting). The abnormal salt loss disrupts the normal balance of sodium, potassium, and other ions in the body. These imbalances underlie the major features of Bartter syndrome.

other disorders - associated with the KCNJ1 gene

Studies suggest that normal variants (polymorphisms) in the KCNJ1 gene may help explain variations in blood pressure seen in different people. Certain rare polymorphisms appear to protect against high blood pressure (hypertension), and researchers speculate that other genetic variants might increase the risk of high blood pressure. Changes in the KCNJ1 gene may affect blood pressure by altering the kidneys' ability to reabsorb salt into the bloodstream.

Where is the KCNJ1 gene located?

Cytogenetic Location: 11q24

Molecular Location on chromosome 11: base pairs 128,838,013 to 128,867,372

The KCNJ1 gene is located on the long (q) arm of chromosome 11 at position 24.

The KCNJ1 gene is located on the long (q) arm of chromosome 11 at position 24.

More precisely, the KCNJ1 gene is located from base pair 128,838,013 to base pair 128,867,372 on chromosome 11.

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 KCNJ1?

You and your healthcare professional may find the following resources about KCNJ1 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 KCNJ1 gene or gene products?

  • ATP-regulated potassium channel ROM-K
  • ATP-sensitive inward rectifier potassium channel 1
  • inwardly rectifying K+ channel
  • inward rectifier K(+) channel Kir1.1
  • IRK1_HUMAN
  • KIR1.1
  • potassium channel, inwardly rectifying subfamily J member 1
  • ROMK
  • ROMK1

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 KCNJ1?

acids ; ATP ; cell ; cell membrane ; channel ; chloride ; gene ; hypertension ; ions ; kidney ; Na ; NaCl ; potassium ; protein ; sodium ; sodium chloride ; syndrome ; wasting

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

References

  • Derst C, Konrad M, Köckerling A, Károlyi L, Deschenes G, Daut J, Karschin A, Seyberth HW. Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. Biochem Biophys Res Commun. 1997 Jan 23;230(3):641-5. (http://www.ncbi.nlm.nih.gov/pubmed/9015377?dopt=Abstract)
  • Jeck N, Derst C, Wischmeyer E, Ott H, Weber S, Rudin C, Seyberth HW, Daut J, Karschin A, Konrad M. Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. Kidney Int. 2001 May;59(5):1803-11. (http://www.ncbi.nlm.nih.gov/pubmed/11318951?dopt=Abstract)
  • Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet. 2008 May;40(5):592-9. doi: 10.1038/ng.118. Epub 2008 Apr 6. (http://www.ncbi.nlm.nih.gov/pubmed/18391953?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3758)
  • Peters M, Ermert S, Jeck N, Derst C, Pechmann U, Weber S, Schlingmann KP, Seyberth HW, Waldegger S, Konrad M. Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int. 2003 Sep;64(3):923-32. (http://www.ncbi.nlm.nih.gov/pubmed/12911542?dopt=Abstract)
  • Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet. 1996 Oct;14(2):152-6. (http://www.ncbi.nlm.nih.gov/pubmed/8841184?dopt=Abstract)
  • Tobin MD, Tomaszewski M, Braund PS, Hajat C, Raleigh SM, Palmer TM, Caulfield M, Burton PR, Samani NJ. Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. Hypertension. 2008 Jun;51(6):1658-64. doi: 10.1161/HYPERTENSIONAHA.108.112664. Epub 2008 Apr 28. (http://www.ncbi.nlm.nih.gov/pubmed/18443236?dopt=Abstract)
  • Welling PA, Ho K. A comprehensive guide to the ROMK potassium channel: form and function in health and disease. Am J Physiol Renal Physiol. 2009 Oct;297(4):F849-63. doi: 10.1152/ajprenal.00181.2009. Epub 2009 May 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19458126?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: February 2011
Published: November 24, 2014