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... See more...

Aliases for AGTR1 Gene

Aliases for AGTR1 Gene

  • Angiotensin II Receptor Type 1 2 3 5
  • AT2R1 2 3 4
  • AT1 2 3 4
  • Type-1 Angiotensin II Receptor 3 4
  • AGTR1B 3 4
  • AGTR1A 2 4
  • AT2R1B 2 4
  • AT1AR 3 4
  • AT1BR 3 4
  • HAT1R 2 3
  • AG2S 2 3
  • AT1B 2 3
  • Type-1B Angiotensin II Receptor 3
  • Angiotensin II Type-1 Receptor 4
  • Angiotensin Receptor 1B 2
  • AT2R1A 2
  • AGTR1 5
  • AT1R 3

External Ids for AGTR1 Gene

Previous HGNC Symbols for AGTR1 Gene

  • AGTR1B

Previous GeneCards Identifiers for AGTR1 Gene

  • GC03P145407
  • GC03P149300
  • GC03P149697
  • GC03P149736
  • GC03P149898
  • GC03P148415
  • GC03P145788

Summaries for AGTR1 Gene

Entrez Gene Summary for AGTR1 Gene

  • 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]

GeneCards Summary for AGTR1 Gene

AGTR1 (Angiotensin II Receptor Type 1) is a Protein Coding gene. Diseases associated with AGTR1 include Renal Tubular Dysgenesis and Hypertension, Essential. Among its related pathways are Apelin signaling pathway and Development Angiotensin activation of ERK. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and angiotensin type II receptor activity. An important paralog of this gene is AGTR2.

UniProtKB/Swiss-Prot Summary for AGTR1 Gene

  • Receptor for angiotensin II. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.

Tocris Summary for AGTR1 Gene

  • The angiotensin1 receptor (AT1) is a member of the angiotensin group of G-protein-coupled receptors that also includes AT2 and AT4. They are located primarily in the liver, kidney, adrenal gland and lung. AT1 receptors preferentially bind angiotensin II.

Gene Wiki entry for AGTR1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGTR1 Gene

Genomics for AGTR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AGTR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J148697 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 264.8 +1.2 1217 3.6 ATF3 YY1 SIN3A RXRA GABPB1 JUND DRAP1 HNF4A RAD21 REST AGTR1 RF01045-108 HSALNG0029684-004 CPB1 ENSG00000285557
GH03J148648 Enhancer 0.6 Ensembl ENCODE 19.3 -48.6 -48642 1.7 JUND MAFK EP300 FOS AGTR1 piR-38426-018 lnc-HLTF-10 HSALNG0029684-004 ENSG00000285557
GH03J148723 Enhancer 0.7 Ensembl ENCODE 11.5 +26.1 26073 1.1 JUND HOMEZ SMAD4 RARA FOSL2 MAFK FOS CEBPB RPL38P1 AGTR1 L13713-160 HSALNG0029684-004 RF01045-108 CPB1 ENSG00000285557
GH03J148642 Enhancer 0.7 Ensembl ENCODE 9.7 -54.9 -54884 3 CEBPB MAFF NFE2 MAFK SPI1 NFE2L2 BHLHE40 POLR2A BACH1 NR2F2 AGTR1 piR-38426-018 lnc-HLTF-10 HSALNG0029684-004 ENSG00000285557
GH03J148719 Enhancer 0.5 Ensembl 11.1 +21.7 21717 0.6 ZNF654 CTCF RAD21 SMC3 USF1 AGTR1 L13713-160 RF01045-108 HSALNG0029684-004 CPB1 ENSG00000285557
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGTR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGTR1

Top Transcription factor binding sites by QIAGEN in the AGTR1 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alphaA

Genomic Locations for AGTR1 Gene

Latest Assembly
chr3:148,697,784-148,743,008
(GRCh38/hg38)
Size:
45,225 bases
Orientation:
Plus strand

Previous Assembly
chr3:148,415,690-148,460,790
(GRCh37/hg19 by Entrez Gene)
Size:
45,101 bases
Orientation:
Plus strand

chr3:148,415,571-148,460,795
(GRCh37/hg19 by Ensembl)
Size:
45,225 bases
Orientation:
Plus strand

Genomic View for AGTR1 Gene

Genes around AGTR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGTR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGTR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGTR1 Gene

Proteins for AGTR1 Gene

  • Protein details for AGTR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30556-AGTR1_HUMAN
    Recommended name:
    Type-1 angiotensin II receptor
    Protein Accession:
    P30556
    Secondary Accessions:
    • Q13725
    • Q8TBK4

    Protein attributes for AGTR1 Gene

    Size:
    359 amino acids
    Molecular mass:
    41061 Da
    Quaternary structure:
    • Interacts with MAS1 (Probable) (PubMed:15809376). Interacts with ARRB1 (By similarity). Interacts with FLNA (via filamin repeat 21); increases PKA-mediated phosphorylation of FLNA (PubMed:26460884).

    Three dimensional structures from OCA and Proteopedia for AGTR1 Gene

neXtProt entry for AGTR1 Gene

Post-translational modifications for AGTR1 Gene

  • C-terminal Ser or Thr residues may be phosphorylated.
  • Glycosylation at Asn4, Asn176, and Asn188
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for AGTR1

No data available for DME Specific Peptides for AGTR1 Gene

Domains & Families for AGTR1 Gene

Gene Families for AGTR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Transporters

Protein Domains for AGTR1 Gene

InterPro:
Blocks:
  • AT1 angiotensin II receptor signature
  • Angiotensin II receptor signature

Suggested Antigen Peptide Sequences for AGTR1 Gene

GenScript: Design optimal peptide antigens:
  • Angiotensin II type-1 receptor (AGTR1_HUMAN)
  • Angiotensin II receptor, type 1, isoform CRA_a (D3DNG8_HUMAN)
  • cDNA FLJ75705, highly similar to Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 1, mRNA (Q53YY0_HUMAN)
  • Angiotensin II receptor, type 1 (Q6NUP5_HUMAN)
  • Angiotensin II receptor, type 1 (Q8TBK4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30556

UniProtKB/Swiss-Prot:

AGTR1_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with AGTR1: view

Function for AGTR1 Gene

Molecular function for AGTR1 Gene

UniProtKB/Swiss-Prot Function:
Receptor for angiotensin II. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.
GENATLAS Biochemistry:
angiotensin II (type-1) receptor,G protein coupled receptor superfamily,including two subtypes AT1A and AT1B,major blood pressure regulator (activation of vascular growth),inhibiting adenylate cyclase,activating phospholipase C and A2,contributing in association with ACE to the risk of coronary disease,localized in the substantia nigra, the caudate nucleus and putamen (neuromodulator),blood vessels ,heart (conduction system) and kidney (renal medullary interstitial cells)

Phenotypes From GWAS Catalog for AGTR1 Gene

Gene Ontology (GO) - Molecular Function for AGTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001596 angiotensin type I receptor activity IBA,IPI 1378723
GO:0004930 G protein-coupled receptor activity IEA,IBA 21873635
GO:0004945 angiotensin type II receptor activity IEA,IDA 1567413
GO:0005515 protein binding IPI 1378723
GO:0031711 bradykinin receptor binding IPI 10993080
genes like me logo Genes that share ontologies with AGTR1: view
genes like me logo Genes that share phenotypes with AGTR1: view

Human Phenotype Ontology for AGTR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AGTR1 Gene

MGI Knock Outs for AGTR1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGTR1

Clone products for research

  • Addgene plasmids for AGTR1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AGTR1 Gene

Localization for AGTR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGTR1 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGTR1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AGTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IC 1378723
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 8135787
genes like me logo Genes that share ontologies with AGTR1: view

Pathways & Interactions for AGTR1 Gene

genes like me logo Genes that share pathways with AGTR1: view

Pathways by source for AGTR1 Gene

4 GeneGo (Thomson Reuters) pathways for AGTR1 Gene
  • Cell adhesion Integrin inside-out signaling
  • Development Angiotensin activation of ERK
  • Development Angiotensin signaling via beta-Arrestin
  • Development Angiotensin signaling via PYK2
1 R&D Systems pathway for AGTR1 Gene
2 Qiagen pathways for AGTR1 Gene
  • JAK-STAT Pathway
  • Renin-Angiotensin Pathway

SIGNOR curated interactions for AGTR1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for AGTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth NAS 17159080
GO:0001822 kidney development IMP 16116425
GO:0002018 renin-angiotensin regulation of aldosterone production NAS 17159080
GO:0002034 regulation of blood vessel diameter by renin-angiotensin IC 10993080
GO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin IC 1378723
genes like me logo Genes that share ontologies with AGTR1: view

Drugs & Compounds for AGTR1 Gene

(155) Drugs for AGTR1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Angiotensin II Approved, Investigational Pharma Agonist, Full agonist, Target Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. 1412
Losartan Approved Pharma Antagonist, Target 366
Olmesartan Approved, Investigational Pharma Antagonist, Target 142
Valsartan Approved, Investigational Pharma Antagonist, Target Angiotensin II AT1 receptor antagonist, High affinity, selective AT1 antagonist 396
Irbesartan Approved, Investigational Pharma Antagonist, Target Angiotensin II inhibitor 113

(49) Additional Compounds for AGTR1 Gene - From: Novoseek, HMDB, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]eprosartan
Antagonist
angiotensin I
  • I, angiotensin
  • 5-Ile-angiotensin I
Agonist, Full agonist
angiotensin-(1-7)
Agonist, Full agonist
L-162313
Agonist, Full agonist
4-Hydroxyvalsartan
  • (2S)-2-(4-Hydroxy-N-{[2'-(2H-1,2,3,4-tetrazol-5-yl)-[1,1'-biphenyl]-4-yl]methyl}pentanamido)-3-methylbutanoate

(5) Tocris Compounds for AGTR1 Gene

Compound Action Cas Number
Azilsartan Potent AT1 receptor inverse agonist; antihypertensive 147403-03-0
EMD 66684 Potent, selective non-peptide AT1 antagonist 1216884-39-7
Losartan potassium Selective, non-peptide AT1 antagonist 124750-99-8
Valsartan High affinity, selective AT1 antagonist 137862-53-4
ZD 7155 hydrochloride Selective non-peptide AT1 antagonist 146709-78-6

(31) ApexBio Compounds for AGTR1 Gene

Compound Action Cas Number
Acetyl Angiotensinogen (1-14), porcine Angiotensinogen precursor 66641-26-7
Angiotensin (1-7) Vasoconstriction peptide hormone 51833-78-4
Angiotensin 1/2 (1-5) Vasoconstrictor 58442-64-1
Angiotensin 1/2 (1-6) Vasoconstrictor 47896-63-9
Angiotensin 1/2 (1-9) Vasoconstrictor 34273-12-6
Angiotensin 1/2 + A (2 - 8) 51833-76-2
Angiotensin I (human, mouse, rat) Precursor of angiotensin II 484-42-4
Angiotensin II Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. 68521-88-0
Angiotensin III (human, mouse) Aldosterone stimulator 13602-53-4
AVE 0991 Agonist of angiotensin-(1-7) receptor 304462-19-9
AVE 0991 sodium salt Ang-(1-7) receptor Mas agonist 306288-04-0
Azilsartan 147403-03-0
Azilsartan Medoxomil Angiotensin II receptor type 1 antagonist 863031-21-4
Azilsartan medoxomil monopotassium Angiotensin II receptor type 1 antagonist 863031-24-7
Biapenem 120410-24-4
Candesartan Angiotensin II receptor 1 (AT1) antagonist 139481-59-7
CGP 42112 127060-75-7
EMD 66684 1216884-39-7
Eprosartan Mesylate 144143-96-4
Irbesartan Angiotensin II inhibitor 138402-11-6
LCZ696 936623-90-4
Losartan 114798-26-4
Losartan Potassium (DuP 753) Angiotensin AT1 receptor antagonist 124750-99-8
Novokinin 358738-77-9
Olmesartan 144689-24-7
Olmesartan medoxomil AT1 receptor antagonist 144689-63-4
Saralasin 34273-10-4
Telmisattan Angiotensin II receptor antagonist 144701-48-4
Tranilast Angiogenesis inhibitor 53902-12-8
Tranilast Sodium Antiallergic agent 104931-56-8
Valsartan Angiotensin II AT1 receptor antagonist 137862-53-4
genes like me logo Genes that share compounds with AGTR1: view

Drug products for research

Transcripts for AGTR1 Gene

mRNA/cDNA for AGTR1 Gene

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGTR1

Clone products for research

  • Addgene plasmids for AGTR1

Alternative Splicing Database (ASD) splice patterns (SP) for AGTR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: - - - -
SP2:
SP3: -
SP4: - - - - -
SP5: -

Relevant External Links for AGTR1 Gene

GeneLoc Exon Structure for
AGTR1

Expression for AGTR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AGTR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGTR1 Gene

This gene is overexpressed in Adipose - Subcutaneous (x7.4), Liver (x7.0), Adipose - Visceral (Omentum) (x4.5), and Adrenal Gland (x4.1).

Protein differential expression in normal tissues from HIPED for AGTR1 Gene

This gene is overexpressed in Cerebrospinal fluid (61.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AGTR1 Gene



Protein tissue co-expression partners for AGTR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGTR1

SOURCE GeneReport for Unigene cluster for AGTR1 Gene:

Hs.477887

mRNA Expression by UniProt/SwissProt for AGTR1 Gene:

P30556-AGTR1_HUMAN
Tissue specificity: Liver, lung, adrenal and adrenocortical adenomas.

Evidence on tissue expression from TISSUES for AGTR1 Gene

  • Liver(4.6)
  • Blood(4.6)
  • Nervous system(4.5)
  • Kidney(3.2)
  • Adrenal gland(3.1)
  • Heart(3.1)
  • Muscle(3)
  • Urine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AGTR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • skull
Thorax:
  • heart
  • lung
Abdomen:
  • kidney
Pelvis:
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
genes like me logo Genes that share expression patterns with AGTR1: view

Orthologs for AGTR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AGTR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AGTR1 29 30
  • 99.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Agtr1b 30
  • 93 (a)
OneToMany
Agtr1a 29 16 30
  • 87 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia AGTR1 29 30
  • 92.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AGTR1 29 30
  • 91.18 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AGTR1 30
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Agtr1a 29
  • 86.35 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AGTR1 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AGTR1 29 30
  • 73.91 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AGTR1 30
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia agtr1 29
  • 65.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia agtr1-A 29
Zebrafish
(Danio rerio)
Actinopterygii agtr1a 30
  • 47 (a)
OneToMany
agtr1b 30
  • 45 (a)
OneToMany
Species where no ortholog for AGTR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for AGTR1 Gene

ENSEMBL:
Gene Tree for AGTR1 (if available)
TreeFam:
Gene Tree for AGTR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AGTR1: view image
Alliance of Genome Resources:
Additional Orthologs for AGTR1

Paralogs for AGTR1 Gene

Variants for AGTR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGTR1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1028418 Pathogenic: Renal dysplasia 148,741,774(+) CTT/C
NM_000685.5(AGTR1):c.742_743del (p.Phe248fs)
FRAMESHIFT
1031470 Pathogenic: Renal dysplasia 148,741,080(+) AG/A
NM_000685.5(AGTR1):c.46del (p.Asp16fs)
FRAMESHIFT
899393 Uncertain Significance: Renal dysplasia 148,742,931(+) C/A
NM_031850.3(AGTR1):c.*816C>A
THREE_PRIME_UTR
899394 Uncertain Significance: Renal dysplasia 148,742,998(+) T/C
NM_031850.3(AGTR1):c.*883T>C
THREE_PRIME_UTR
899395 Uncertain Significance: Renal dysplasia 148,743,017(+) A/G
NM_031850.3(AGTR1):c.*902A>G

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AGTR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AGTR1 Gene

Variant ID Type Subtype PubMed ID
dgv1417e212 CNV loss 25503493

Variation tolerance for AGTR1 Gene

Residual Variation Intolerance Score: 45.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 27.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGTR1 Gene

Human Gene Mutation Database (HGMD)
AGTR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGTR1
Leiden Open Variation Database (LOVD)
AGTR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGTR1 Gene

Disorders for AGTR1 Gene

MalaCards: The human disease database

(86) MalaCards diseases for AGTR1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search AGTR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AGTR1_HUMAN
  • Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). {ECO:0000269 PubMed:16116425}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for AGTR1 Gene

Bartter syndrome characterized by hypokalemic alkalosis,normal or hypercalciuria,normal magnesemia,early onset and hyperreninemia,hyperaldosteronism,hyperplasia of the juxtaglomerular apparatus

Additional Disease Information for AGTR1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AGTR1: view

Publications for AGTR1 Gene

  1. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. (PMID: 16116425) Gribouval O … Gubler MC (Nature genetics 2005) 3 4 22 72
  2. A1166C variant of angiotensin II type 1 receptor gene is associated with severe hypertension in pregnancy independently of T235 variant of angiotensinogen gene. (PMID: 15042429) Kobashi G … Kondo K (Journal of human genetics 2004) 3 22 40 72
  3. ACE and AGTR1 polymorphisms and left ventricular hypertrophy in endurance athletes. (PMID: 19997001) Di Mauro M … Gallina S (Medicine and science in sports and exercise 2010) 3 22 40
  4. Screening the single nucleotide polymorphisms in patients with internal carotid artery stenosis by oligonucleotide-based custom DNA array. (PMID: 20066125) Nakai K … Ogawa A (Bioinformatics and biology insights 2009) 3 22 40
  5. Renin-angiotensin system and alpha-adducin gene polymorphisms and their relation to responses to antihypertensive drugs: results from the GENRES study. (PMID: 19057513) Suonsyrjä T … Hiltunen TP (American journal of hypertension 2009) 3 22 40

Products for AGTR1 Gene

  • Addgene plasmids for AGTR1

Sources for AGTR1 Gene