Gene Gene information from NCBI Gene database.
Entrez ID 185
Gene name Angiotensin II receptor type 1
Gene symbol AGTR1
Synonyms (NCBI Gene)
AG2SAGTR1BAT1AT1ARAT1BAT1BRAT1RAT2R1ATR1HAT1R
Chromosome 3
Chromosome location 3q24
Summary Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene enc
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs5186 A>C Risk-factor, benign 3 prime UTR variant
rs104893677 C>T Pathogenic Missense variant, coding sequence variant
rs387906577 ->T Pathogenic Coding sequence variant, frameshift variant
rs397514687 C>G,T Pathogenic Missense variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
130
miRTarBase ID miRNA Experiments Reference
MIRT002006 hsa-miR-155-5p Luciferase reporter assay 17668390
MIRT002006 hsa-miR-155-5p Luciferase reporter assay 17668390
MIRT002006 hsa-miR-155-5p Luciferase reporter assay 17668390
MIRT002006 hsa-miR-155-5p Luciferase reporter assay 19177201
MIRT002006 hsa-miR-155-5p Review 20026422
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
Transcription factor Regulation Reference
ETV4 Activation 8206588
HIF1A Activation 15718424
SND1 Activation 18603592
SP1 Activation 22282354
SP1 Repression 22282354
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0001558 Process Regulation of cell growth NAS 17159080
GO:0001596 Function Angiotensin type I receptor activity IBA
GO:0001596 Function Angiotensin type I receptor activity IDA 8987975, 10993080, 15611106, 25913193, 26420482, 30639100, 32079768
GO:0001596 Function Angiotensin type I receptor activity IPI 1378723
GO:0001822 Process Kidney development IMP 16116425
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
106165 336 ENSG00000144891
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30556
Protein name Type-1 angiotensin II receptor (AT1AR) (AT1BR) (Angiotensin II type-1 receptor) (AT1 receptor)
Protein function 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, Pub
PDB 4YAY , 4ZUD , 6DO1 , 6OS0 , 6OS1 , 6OS2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 45 302 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Liver, lung, adrenal and adrenocortical adenomas. {ECO:0000269|PubMed:1378723}.
Sequence
Sequence length 359
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
130
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Essential hypertension Likely pathogenic rs1559934279 RCV001535835
Essential hypertension, genetic Likely pathogenic; Pathogenic rs2107975487, rs398122935, rs397514687 RCV005038256
RCV005025096
RCV005025097
Renal tubular dysgenesis Likely pathogenic; Pathogenic rs1559934279, rs2107975850, rs387906577, rs104893677, rs398122935, rs397514687 RCV001535835
RCV001807654
RCV000019689
RCV000019690
RCV000043468
RCV000043469
Renal tubular dysgenesis of genetic origin Likely pathogenic; Pathogenic rs2107975487, rs1380295297, rs1417391173, rs398122935, rs397514687 RCV005038256
RCV005869744
RCV003128377
RCV005025096
RCV005025097
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs5189 RCV005897612
Adrenocortical carcinoma, hereditary Benign rs5189 RCV005897613
AGTR1-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign rs376789057, rs777986489, rs2472792259, rs145708722, rs949465624, rs754749117, rs111980524 RCV003417059
RCV003410695
RCV003402087
RCV003950207
RCV003949601
RCV003934318
RCV004753097
Anhydramnios Uncertain significance rs762020328 RCV001807666
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 24167376
Acute Coronary Syndrome Associate 31195108
Acute Lung Injury Associate 35726726
Adenocarcinoma Inhibit 22170435
Agnosia Associate 38482990
Albuminuria Associate 24225429, 30630996
Alzheimer Disease Associate 27884212, 35969296
Aneurysm Ascending Aorta Associate 26071572
Angina Unstable Stimulate 28281389
Angina Unstable Associate 29982608