AGTR1

Chr 3q24

angiotensin II receptor type 1

Aliases:: AT1, AT2R1, AGTR1A, AT2R1A, HAT1R
MANE:: ENST00000349243.8

OMIM: 106165 ↗NCBI: 185 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

AGTR1 · P30556

v62025-08-01

Predicted Aligned Error matrix for AGTR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.3/ 100

Confident

359 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)21%
Low(50–70)8%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

CAKUT
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomal
Unexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomal
Extreme early-onset hypertension
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

renal tubular dysgenesis
0.75
hypertensive disorder
0.74
renal tubular dysgenesis of genetic origin
0.72
essential hypertension
0.72
Hypertension
0.63
heart failure
0.62
myocardial infarction
0.62
essential hypertension, genetic
0.61
congestive heart failure
0.61
kidney disorder
0.61

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Type-1 angiotensin II receptor

Receptor for angiotensin II, a vasoconstricting peptide, which acts as a key regulator of blood pressure and sodium retention by the kidney (PubMed:15611106, PubMed:1567413, PubMed:25913193, PubMed:26420482, PubMed:30639100, PubMed:32079768, PubMed:8987975). The activated receptor in turn couples to G-alpha proteins G(q) (GNAQ, GNA11, GNA14 or GNA15) and thus activates phospholipase C and increases the cytosolic Ca(2+) concentrations, which in turn triggers cellular responses such as stimulation of protein kinase C (PubMed:15611106)

Curated MONDO disease pages that list AGTR1 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with AGTR1