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    AGTR1 angiotensin II receptor type 1 [ Homo sapiens (human) ]

    Gene ID: 185, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AGTR1provided by HGNC
    Official Full Name
    angiotensin II receptor type 1provided by HGNC
    Primary source
    HGNC:HGNC:336
    See related
    Ensembl:ENSG00000144891 MIM:106165; AllianceGenome:HGNC:336
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AT1; AG2S; AT1B; AT1R; ATR1; AT1AR; AT1BR; AT2R1; HAT1R; AGTR1B
    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 encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2020]
    Expression
    Biased expression in placenta (RPKM 58.2), fat (RPKM 27.9) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AGTR1 in Genome Data Viewer
    Location:
    3q24
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (148697903..148743003)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (151448936..151494033)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (148415690..148460790)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374150 Neighboring gene HNF1 motif-containing MPRA enhancer 244 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:148360892-148362091 Neighboring gene RPL38 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:148472851-148473352 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:148498709-148498859 Neighboring gene high mobility group box 1 pseudogene 30 Neighboring gene carboxypeptidase B1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Nongenomic oestrogen signalling in oestrogen receptor negative breast cancer cells: a role for the angiotensin II receptor AT1. Lim KT, et al. Breast Cancer Res, 2006. PMID 16805920, Free PMC Article
    2. The increased angiotensin II (type 1) receptor density in myocardium of type 2 diabetic patients is prevented by blockade of the renin-angiotensin system. Reuter H, et al. Diabetologia, 2006 Dec. PMID 17051401
    3. Association between A/C1166 gene polymorphism of the angiotensin II type 1 receptor and biventricular functions in patients with acute myocardial infarction. Ulgen MS, et al. Circ J, 2006 Oct. PMID 16998258
    4. Autoantibodies isolated from preeclamptic patients induce endothelial dysfunction via interaction with the angiotensin II AT1 receptor. Yang X, et al. Cardiovasc Toxicol, 2014 Mar. PMID 24122090
    5. Influence of autoantibodies against AT1 receptor and AGTR1 polymorphisms on candesartan-based antihypertensive regimen: results from the study of optimal treatment in hypertensive patients with anti-AT1-receptor autoantibodies trial. Sun Y, et al. J Am Soc Hypertens, 2014 Jan. PMID 24131669

    See all (994) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Gene variants rs5182, rs2074192, and rs4343 in the renin-angiotensin-aldosterone system are associated with symptom severity, higher odds of hospitalization, and death in COVID-19.
      Title: Gene variants rs5182, rs2074192, and rs4343 in the renin-angiotensin-aldosterone system are associated with symptom severity, higher odds of hospitalization, and death in COVID-19.
    2. Associations of ACE I/D and AGTR1 rs5182 polymorphisms with diabetes and their effects on lipids in an elderly Chinese population.
      Title: Associations of ACE I/D and AGTR1 rs5182 polymorphisms with diabetes and their effects on lipids in an elderly Chinese population.
    3. Investigating the association of Angiotensin II Type I Receptor A1166C Polymorphism with Breast Cancer Risk in the Pakistani Population.
      Title: Investigating the association of Angiotensin II Type I Receptor A1166C Polymorphism with Breast Cancer Risk in the Pakistani Population.
    4. Significant Association of Candidate Genes (AGTR1 and TGF-Beta1) Polymorphism with Diabetic Nephropathy in Diabetes Mellitus Type 2 Patients.
      Title: Significant Association of Candidate Genes (AGTR1 and TGF-Î’1) Polymorphism with Diabetic Nephropathy in Diabetes Mellitus Type 2 Patients.
    5. A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
      Title: A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
    6. Effect of AGTR1 A1166C genetic polymorphism on coronary artery lesions and mortality in patients with acute myocardial infarction.
      Title: Effect of AGTR1 A1166C genetic polymorphism on coronary artery lesions and mortality in patients with acute myocardial infarction.
    7. Evidence for heterodimerization and functional interaction of the urotensin II and the angiotensin II type 1 receptors.
      Title: Evidence for heterodimerization and functional interaction of the urotensin II and the angiotensin II type 1 receptors.
    8. Genetic Variations of Angiotensinogen, Angiotensin Converting Enzyme, and Angiotensin Type 1 Receptor with the Risk of Pulmonary Tuberculosis.
      Title: Genetic Variations of Angiotensinogen, Angiotensin Converting Enzyme, and Angiotensin Type 1 Receptor with the Risk of Pulmonary Tuberculosis.
    9. Regulation of vascular angiotensin II type 1 and type 2 receptor and angiotensin-(1-7)/MasR signaling in normal and hypertensive pregnancy.
      Title: Regulation of vascular angiotensin II type 1 and type 2 receptor and angiotensin-(1-7)/MasR signaling in normal and hypertensive pregnancy.
    10. Interactions between AT1R and GRKs: the determinants for activation of signaling pathways involved in blood pressure regulation.
      Title: Interactions between AT1R and GRKs: the determinants for activation of signaling pathways involved in blood pressure regulation.
    Submit: New GeneRIF Correction See all GeneRIFs (675)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Essential hypertension, genetic
    MedGen: CN305331 OMIM: 145500 GeneReviews: Not available
    		Compare labs
    Renal tubular dysgenesis of genetic origin
    MedGen: C5681536 OMIM: 267430 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables angiotensin type I receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables angiotensin type I receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables angiotensin type I receptor activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables angiotensin type II receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables bradykinin receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in angiotensin-activated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in blood vessel diameter maintenance IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in calcium-mediated signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell chemotaxis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in low-density lipoprotein particle remodeling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in maintenance of blood vessel diameter homeostasis by renin-angiotensin IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in maintenance of blood vessel diameter homeostasis by renin-angiotensin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in phospholipase C-activating angiotensin-activated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of CoA-transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of inflammatory response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of macrophage derived foam cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of phospholipase A2 activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of reactive oxygen species metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell population proliferation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of inflammatory response IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in regulation of renal sodium excretion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of systemic arterial blood pressure by renin-angiotensin IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in regulation of vasoconstriction IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in regulation of vasoconstriction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of vasoconstriction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in renin-angiotensin regulation of aldosterone production NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in symbiont entry into host cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    type-1 angiotensin II receptor
    Names
    AT1 receptor
    type-1B angiotensin II receptor

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008468.2 RefSeqGene

      Range
      5002..50102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000685.5 → NP_000676.1  type-1 angiotensin II receptor

      See identical proteins and their annotated locations for NP_000676.1

      Status: REVIEWED

      Source sequence(s)
      AC024897
      Consensus CDS
      CCDS3137.1
      UniProtKB/Swiss-Prot
      P30556, Q13725, Q8TBK4
      UniProtKB/TrEMBL
      D3DNG9, Q53YY0, Q6NUP5
      Related
      ENSP00000273430.3, ENST00000349243.8
      Conserved Domains (1) summary
      cd15192
      Location:29 → 313
      7tmA_AT1R; type 1 angiotensin II receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    2. NM_001382736.1 → NP_001369665.1  type-1 angiotensin II receptor

      Status: REVIEWED

      Source sequence(s)
      AC024897
      Consensus CDS
      CCDS3137.1
      UniProtKB/Swiss-Prot
      P30556, Q13725, Q8TBK4
      UniProtKB/TrEMBL
      D3DNG9, Q53YY0, Q6NUP5
      Related
      ENSP00000385612.2, ENST00000404754.2
      Conserved Domains (1) summary
      cd15192
      Location:29 → 313
      7tmA_AT1R; type 1 angiotensin II receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    3. NM_001382737.1 → NP_001369666.1  type-1 angiotensin II receptor

      Status: REVIEWED

      Source sequence(s)
      AC024897
      Consensus CDS
      CCDS3137.1
      UniProtKB/Swiss-Prot
      P30556, Q13725, Q8TBK4
      UniProtKB/TrEMBL
      D3DNG9, Q53YY0, Q6NUP5
      Conserved Domains (1) summary
      cd15192
      Location:29 → 313
      7tmA_AT1R; type 1 angiotensin II receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    4. NM_004835.5 → NP_004826.6  type-1 angiotensin II receptor

      Status: REVIEWED

      Source sequence(s)
      AC024897
      Consensus CDS
      CCDS3137.1
      UniProtKB/Swiss-Prot
      P30556, Q13725, Q8TBK4
      UniProtKB/TrEMBL
      D3DNG9, Q53YY0, Q6NUP5
      Related
      ENSP00000398832.4, ENST00000418473.7
      Conserved Domains (1) summary
      cd15192
      Location:29 → 313
      7tmA_AT1R; type 1 angiotensin II receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    5. NM_009585.4 → NP_033611.1  type-1 angiotensin II receptor

      See identical proteins and their annotated locations for NP_033611.1

      Status: REVIEWED

      Source sequence(s)
      AC024897
      Consensus CDS
      CCDS3137.1
      UniProtKB/Swiss-Prot
      P30556, Q13725, Q8TBK4
      UniProtKB/TrEMBL
      D3DNG9, Q53YY0, Q6NUP5
      Related
      ENSP00000419422.1, ENST00000497524.5
      Conserved Domains (1) summary
      cd15192
      Location:29 → 313
      7tmA_AT1R; type 1 angiotensin II receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    6. NM_031850.4 → NP_114038.5  type-1 angiotensin II receptor

      Status: REVIEWED

      Source sequence(s)
      AC024897
      Consensus CDS
      CCDS3137.1
      UniProtKB/Swiss-Prot
      P30556, Q13725, Q8TBK4
      UniProtKB/TrEMBL
      D3DNG9, Q53YY0, Q6NUP5
      Conserved Domains (1) summary
      cd15192
      Location:29 → 313
      7tmA_AT1R; type 1 angiotensin II receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    7. NM_032049.4 → NP_114438.3  type-1 angiotensin II receptor

      Status: REVIEWED

      Source sequence(s)
      AC024897
      Consensus CDS
      CCDS3137.1
      UniProtKB/Swiss-Prot
      P30556, Q13725, Q8TBK4
      UniProtKB/TrEMBL
      D3DNG9, Q53YY0, Q6NUP5
      Related
      ENSP00000385641.3, ENST00000402260.2
      Conserved Domains (1) summary
      cd15192
      Location:29 → 313
      7tmA_AT1R; type 1 angiotensin II receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      148697903..148743003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      151448936..151494033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30556.1 GenPept UniProtKB/Swiss-Prot:P30556

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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