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Genetics Home Reference: your guide to understanding genetic conditions
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AGTR1

Reviewed May 2013

What is the official name of the AGTR1 gene?

The official name of this gene is “angiotensin II receptor, type 1.”

AGTR1 is the gene's official symbol. The AGTR1 gene is also known by other names, listed below.

What is the normal function of the AGTR1 gene?

The AGTR1 gene provides instructions for making a protein called the angiotensin II receptor type 1 (AT1 receptor). This protein is part of the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body. Through a series of steps, the renin-angiotensin system produces a molecule called angiotensin II, which attaches (binds) to the AT1 receptor, stimulating chemical signaling. This signaling causes blood vessels to narrow (constrict), which results in increased blood pressure. Binding of angiotensin II to the AT1 receptor also stimulates production of the hormone aldosterone, which triggers the absorption of water and salt by the kidneys. The increased amount of fluid in the body also increases blood pressure. Proper blood pressure during fetal growth, which delivers oxygen to the developing tissues, is required for normal development of the kidneys, particularly of structures called the proximal tubules, and other tissues. In addition, angiotensin II may play a more direct role in kidney development, perhaps by affecting growth factors involved in the development of kidney structures.

Does the AGTR1 gene share characteristics with other genes?

The AGTR1 gene belongs to a family of genes called GPCR (G protein-coupled receptors).

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 AGTR1 gene related to health conditions?

renal tubular dysgenesis - caused by mutations in the AGTR1 gene

At least four mutations in the AGTR1 gene have been found to cause a severe kidney disorder called renal tubular dysgenesis. This condition is characterized by abnormal kidney development before birth, the inability to produce urine (anuria), and severe low blood pressure (hypotension). These problems result in a reduction of amniotic fluid (oligohydramnios), which leads to a set of birth defects known as the Potter sequence.

Renal tubular dysgenesis can be caused by mutations in both copies of any of the genes involved in the renin-angiotensin system. The AGTR1 gene mutations that cause this disorder likely change or block the AT1 receptor's ability to stimulate signaling, which results in a nonfunctional renin-angiotensin system. Without this system, the kidneys cannot control blood pressure. Because of low blood pressure, the flow of blood is reduced (hypoperfusion), and the body does not get enough oxygen during fetal development. As a result, kidney development is impaired, leading to the features of renal tubular dysgenesis.

other disorders - associated with the AGTR1 gene

Variations in the AGTR1 gene have been reported to be associated with an increased risk of a form of high blood pressure (hypertension) called essential hypertension; heart disease; or diabetic nephropathy, a complication of diabetes that affects kidney function. These are complex disorders associated with many genetic and environmental factors. The most studied AGTR1 gene variation associated with these conditions changes a single DNA building block (nucleotide) in the gene. This change switches the nucleotide adenine to cytosine at position 1166 in the gene (written as A1166C). It is unclear how this AGTR1 gene variation contributes to the risk of these conditions.

Where is the AGTR1 gene located?

Cytogenetic Location: 3q24

Molecular Location on chromosome 3: base pairs 148,697,870 to 148,743,002

The AGTR1 gene is located on the long (q) arm of chromosome 3 at position 24.

The AGTR1 gene is located on the long (q) arm of chromosome 3 at position 24.

More precisely, the AGTR1 gene is located from base pair 148,697,870 to base pair 148,743,002 on chromosome 3.

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 AGTR1?

You and your healthcare professional may find the following resources about AGTR1 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 AGTR1 gene or gene products?

  • AG2S
  • AGTR1A
  • AGTR1B
  • AGTR1_HUMAN
  • AT1
  • AT1AR
  • AT1B
  • AT1BR
  • AT1R
  • AT2R1
  • AT2R1A
  • AT2R1B
  • HAT1R
  • type-1 angiotensin II receptor
  • type-1B angiotensin II receptor

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 AGTR1?

adenine ; aldosterone ; complication ; cytosine ; diabetes ; DNA ; dysgenesis ; gene ; hormone ; hypertension ; hypotension ; kidney ; molecule ; nephropathy ; nucleotide ; oxygen ; protein ; proximal ; receptor ; 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

  • OMIM: ANGIOTENSIN RECEPTOR 1 (http://omim.org/entry/106165)
  • Ding W, Wang F, Fang Q, Zhang M, Chen J, Gu Y. Association between two genetic polymorphisms of the renin-angiotensin-aldosterone system and diabetic nephropathy: a meta-analysis. Mol Biol Rep. 2012 Feb;39(2):1293-303. doi: 10.1007/s11033-011-0862-7. Epub 2011 May 20. (http://www.ncbi.nlm.nih.gov/pubmed/21607620?dopt=Abstract)
  • Duncan JA, Scholey JW, Miller JA. Angiotensin II type 1 receptor gene polymorphisms in humans: physiology and pathophysiology of the genotypes. Curr Opin Nephrol Hypertens. 2001 Jan;10(1):111-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11195043?dopt=Abstract)
  • Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet. 2005 Sep;37(9):964-8. Epub 2005 Aug 14. (http://www.ncbi.nlm.nih.gov/pubmed/16116425?dopt=Abstract)
  • Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22095942?dopt=Abstract)
  • Gubler MC, Antignac C. Renin-angiotensin system in kidney development: renal tubular dysgenesis. Kidney Int. 2010 Mar;77(5):400-6. doi: 10.1038/ki.2009.423. Epub 2009 Nov 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19924102?dopt=Abstract)
  • Katsuya T, Morishita R. Gene polymorphism of angiotensin II type 1 and type 2 receptors. Curr Pharm Des. 2013;19(17):2996-3001. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23176211?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/185)
  • Wolf G. Angiotensin II and tubular development. Nephrol Dial Transplant. 2002;17 Suppl 9:48-51. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12386287?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: May 2013
Published: October 27, 2014