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 the 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.

Renal tubular dysgenesis 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 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.

The following transcription factors affect gene expression:

• PPAR-gamma1
• PPAR-gamma2
• Sp1
• PPAR-alpha

Tissue specificity:

Liver, lung, adrenal and adrenocortical adenomas.

Molecular Function:

• Angiotensin Type I Receptor Activity
• Angiotensin Type Ii Receptor Activity
• Bradykinin Receptor Binding
• Protein Heterodimerization Activity

Biological Processes:

• Regulation Of Cell Growth
• Kidney Development
• Renin-Angiotensin Regulation Of Aldosterone Production
• Regulation Of Blood Vessel Diameter By Renin-Angiotensin
• Regulation Of Systemic Arterial Blood Pressure By Renin-Angiotensin
• G-Protein Coupled Receptor Signaling Pathway
• Phospholipase C-Activating G-Protein Coupled Receptor Signaling Pathway
• Positive Regulation Of Cytosolic Calcium Ion Concentration
• Rho Protein Signal Transduction
• Positive Regulation Of Macrophage Derived Foam Cell Differentiation
• Positive Regulation Of Cholesterol Esterification
• Regulation Of Vasoconstriction
• Calcium-Mediated Signaling
• Positive Regulation Of Cellular Protein Metabolic Process
• Positive Regulation Of Phospholipase A2 Activity
• Positive Regulation Of Nad(P)H Oxidase Activity
• Low-Density Lipoprotein Particle Remodeling
• Regulation Of Renal Sodium Excretion
• Angiotensin-Activated Signaling Pathway
• Regulation Of Cell Proliferation
• Regulation Of Vasodilation
• Regulation Of Inflammatory Response
• Positive Regulation Of Inflammatory Response
• Positive Regulation Of Cytosolic Calcium Ion Concentration Involved In Phospholipase C-Activating G-Protein Coupled Signaling Pathway
• Cell Chemotaxis
• Phospholipase C-Activating Angiotensin-Activated Signaling Pathway
• Positive Regulation Of Reactive Oxygen Species Metabolic Process

Drug Bank:

• Saprisartan
• Candesartan
• Forasartan
• Irbesartan
• Losartan
• Olmesartan
• Telmisartan
• Valsartan
• Azilsartan Medoxomil
• Eprosartan
• Tasosartan