AGTR1 (Angiotensin II Receptor Type 1)
Key regulator of blood pressure and fluid-electrolyte balance, implicated in hypertension, cardiovascular disease, and renal disorders.
Gene Information Card
| Symbol | AGTR1 |
|---|---|
| Full Name | Angiotensin II Receptor Type 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q24 |
| NCBI Gene ID | 185 ncbi.nlm.nih.gov/gene/185 |
| Ensembl ID | ENSG00000144891 |
| UniProt ID | P30556 |
| OMIM ID | 106165 |
| HGNC ID | 336 |
| Aliases | AT1, AT1AR, AT1B, AT2R1, AGTR1A, AGTR1B, AT1R |
Description
The AGTR1 gene encodes the angiotensin II receptor type 1, a G protein-coupled receptor that mediates the major cardiovascular effects of angiotensin II, including vasoconstriction, aldosterone secretion, sodium retention, and cell proliferation. It plays a central role in blood pressure regulation and fluid homeostasis. Mutations and polymorphisms in AGTR1 are associated with essential hypertension, myocardial infarction, diabetic nephropathy, and preeclampsia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Essential Hypertension | Increased receptor activity or expression enhances vasoconstriction and sodium retention. | ClinVar, OMIM |
| Myocardial Infarction | Polymorphisms (e.g., rs5186) linked to increased risk via altered receptor signaling. | NCBI, OMIM |
| Diabetic Nephropathy | Activation of AGTR1 promotes renal fibrosis and glomerulosclerosis. | ClinVar, OMIM |
| Preeclampsia | Dysregulated AGTR1 expression contributes to placental ischemia and maternal hypertension. | OMIM, NCBI |
| Cardiac Hypertrophy | Angiotensin II via AGTR1 induces cardiomyocyte growth and fibrosis. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Kidney | 15.1 | High |
| Liver | 2.4 | Low |
| Lung | 6.7 | Medium |
| Brain | 4.2 | Low |
| Pancreas | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.3 | High expression in transfected cells |
| HUVEC | 9.8 | Endothelial expression |
| Aortic smooth muscle cells | 14.5 | Vascular smooth muscle |
| Renal proximal tubule cells | 18.2 | Kidney-specific |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.116A>G (p.Asn39Ser) | Missense | 0.01% | Altered ligand binding affinity |
| c.573C>T (p.Arg191Cys) | Missense | 0.005% | Reduced receptor activation |
| c.862G>A (p.Gly288Ser) | Missense | 0.02% | Impaired G protein coupling |
| rs5186 (A1166C) | SNP | 30-40% (population dependent) | Increased risk of hypertension and cardiovascular events |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Arg191Cys reduce receptor signaling and angiotensin II response.
Gain of Function (GOF)
Polymorphism rs5186 (A1166C) is associated with enhanced receptor expression and activity.
Dominant Negative (DN)
No well-characterized dominant negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • angiotensin type II receptor activity |
| • vasoconstriction | • blood pressure regulation |
| • cell proliferation | • aldosterone secretion |
| • sodium ion homeostasis |
Pathways
• Renin-angiotensin system
• GPCR signaling pathway
• Calcium signaling pathway
• cGMP-PKG signaling pathway
• Hypertrophic cardiomyopathy
Protein Summary
The AGTR1 protein (UniProt P30556) is a 359-amino acid G protein-coupled receptor with seven transmembrane domains. It binds angiotensin II with high affinity, activating phospholipase C and increasing intracellular calcium. This leads to vasoconstriction, aldosterone release, and renal sodium reabsorption. The receptor is a major therapeutic target for antihypertensive drugs (e.g., losartan, valsartan).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGTR1 Knockout HEK293 Cell Line | EDJ-KQ1464 | Human | 185 | Details Get a Quote |
| AGTR1 Knockout A-549 Cell Line | EDJ-KQ21029 | Human | 185 | Details Get a Quote |
| AGTR1 Knockout HeLa Cell Line | EDJ-KQ52580 | Human | 185 | Details Get a Quote |
| AGTR1 Knockout HCT 116 Cell Line | EDJ-KQ69540 | Human | 185 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
