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

Summary

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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AGTR1 variant rs2638355 is associated with increased salt sensitivity of blood pressure: a female-specific effect in individuals from the HyperPath cohort.
Title: AGTR1 variant rs2638355 is associated with increased salt sensitivity of blood pressure: a female-specific effect in individuals from the HyperPath cohort.
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.
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.
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.
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-Β1) Polymorphism with Diabetic Nephropathy in Diabetes Mellitus Type 2 Patients.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (676)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:455679 (e-PCR)
- UniSTS:157468

GDB:438967 (e-PCR)
- UniSTS:157285

RH11116 (e-PCR)
- UniSTS:43111

GDB:251663 (e-PCR)
- UniSTS:156314

SHGC-12732 (e-PCR)
- UniSTS:33179

PMC310924P4 (e-PCR)
- UniSTS:272815

PMC55900P1 (e-PCR)
- UniSTS:273356

MARC_14779-14780:1010671130:1 (e-PCR)
- UniSTS:267734

RH48548 (e-PCR)
- UniSTS:54747

SGC38226 (e-PCR)
- UniSTS:79849

SHGC-145843 (e-PCR)
- UniSTS:174832

RH17842 (e-PCR)
- UniSTS:11000

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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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

NG_008468.2 RefSeqGene

Range

5002..50102

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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