Endometriosis Knowledgebase

Search Result

Gene id

185

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

AGTR1 Gene UCSC Ensembl

Aliases

AG2S, AGTR1B, AT1, AT1AR, AT1B, AT1BR, AT1R, AT2R1, HAT1R

Gene name

angiotensin II receptor type 1

Alternate names

type-1 angiotensin II receptor, type-1B angiotensin II receptor,

Gene location

3q24 (148697870: 148743002) Exons: 5 NC_000003.12

Gene summary(Entrez)

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. Multiple alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Jul 2012]

OMIM

106165

SNPs

rs5186

Strand:    Allele origin: A(germline)/C(germline)  Allele change: A/C   Mutation type: snp

CM000665.2   g.148742201A>C
NC_000003.11   g.148459988A>C
NC_000003.12   g.148742201A>C
NG_008468.1   g.49331A>C
NM_000685.4   c.*86A>C
NM_004835.4   c.*86A>C
NM_009585.3   c.*86A>C
NM_031850.3   c.*86A>C
NM_032049.3   c.*86A>C
Clinical Significance: other

Protein Summary

Protein general information

P30556

Name: Type 1 angiotensin II receptor (AT1AR) (AT1BR) (Angiotensin II type 1 receptor) (AT1)

Length: 359 Mass: 41,061

Tissue specificity: Liver, lung, adrenal and adrenocortical adenomas.

Sequence

MILNSSTEDGIKRIQDDCPKAGRHNYIFVMIPTLYSIIFVVGIFGNSLVVIVIYFYMKLKTVASVFLLNLALADL
CFLLTLPLWAVYTAMEYRWPFGNYLCKIASASVSFNLYASVFLLTCLSIDRYLAIVHPMKSRLRRTMLVAKVTCI
IIWLLAGLASLPAIIHRNVFFIENTNITVCAFHYESQNSTLPIGLGLTKNILGFLFPFLIILTSYTLIWKALKKA
YEIQKNKPRNDDIFKIIMAIVLFFFFSWIPHQIFTFLDVLIQLGIIRDCRIADIVDTAMPITICIAYFNNCLNPL
FYGFLGKKFKRYFLQLLKYIPPKAKSHSNLSTKMSTLSYRPSDNVSSSTKKPAPCFEVE

Structural information

Interpro:	IPR000190 IPR000248 IPR000276 IPR017452
Prosite:	PS00237 PS50262
Pfam:	PF00001
PDB:	1ZV0 4YAY 4ZUD
PDBsum:	1ZV0 4YAY 4ZUD
MINT:	107041
STRING:	ENSP00000273430;

Other Databases

GeneCards: AGTR1; Malacards: AGTR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001558	regulation of cell growth	NAS	biological_process
GO:0001596	angiotensin type I recept or activity	IDA	molecular_function
GO:0001596	angiotensin type I recept or activity	IPI	molecular_function
GO:0001822	kidney development	IMP	biological_process
GO:0002018	renin-angiotensin regulat ion of aldosterone produc tion	NAS	biological_process
GO:0002034	regulation of blood vesse l diameter by renin-angio tensin	IC	biological_process
GO:0003081	regulation of systemic ar terial blood pressure by renin-angiotensin	IC	biological_process
GO:0004945	angiotensin type II recep tor activity	IDA	molecular_function
GO:0004945	angiotensin type II recep tor activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IC	cellular_component
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	NAS	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IDA	biological_process
GO:0007266	Rho protein signal transd uction	IDA	biological_process
GO:0010744	positive regulation of ma crophage derived foam cel l differentiation	IC	biological_process
GO:0010873	positive regulation of ch olesterol esterification	IMP	biological_process
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0019229	regulation of vasoconstri ction	IC	biological_process
GO:0019229	regulation of vasoconstri ction	IDA	biological_process
GO:0019229	regulation of vasoconstri ction	NAS	biological_process
GO:0019722	calcium-mediated signalin g	IDA	biological_process
GO:0031711	bradykinin receptor bindi ng	IPI	molecular_function
GO:0032270	positive regulation of ce llular protein metabolic process	IMP	biological_process
GO:0032430	positive regulation of ph ospholipase A2 activity	IMP	biological_process
GO:0033864	positive regulation of NA D(P)H oxidase activity	TAS	biological_process
GO:0034374	low-density lipoprotein p article remodeling	NAS	biological_process
GO:0035813	regulation of renal sodiu m excretion	NAS	biological_process
GO:0038166	angiotensin-activated sig naling pathway	IDA	biological_process
GO:0042127	regulation of cell prolif eration	NAS	biological_process
GO:0042312	regulation of vasodilatio n	IC	biological_process
GO:0046982	protein heterodimerizatio n activity	IPI	molecular_function
GO:0050727	regulation of inflammator y response	IC	biological_process
GO:0050729	positive regulation of in flammatory response	TAS	biological_process
GO:0051482	positive regulation of cy tosolic calcium ion conce ntration involved in phos pholipase C-activating G- protein coupled signaling pathway	IDA	biological_process
GO:0060326	cell chemotaxis	IDA	biological_process
GO:0086097	phospholipase C-activatin g angiotensin-activated s ignaling pathway	IDA	biological_process
GO:2000379	positive regulation of re active oxygen species met abolic process	TAS	biological_process
GO:0001558	regulation of cell growth	NAS	biological_process
GO:0001596	angiotensin type I recept or activity	IDA	molecular_function
GO:0001596	angiotensin type I recept or activity	IPI	molecular_function
GO:0001822	kidney development	IMP	biological_process
GO:0002018	renin-angiotensin regulat ion of aldosterone produc tion	NAS	biological_process
GO:0002034	regulation of blood vesse l diameter by renin-angio tensin	IC	biological_process
GO:0003081	regulation of systemic ar terial blood pressure by renin-angiotensin	IC	biological_process
GO:0004871	signal transducer activit y	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0004945	angiotensin type II recep tor activity	IEA	molecular_function
GO:0004945	angiotensin type II recep tor activity	IDA	molecular_function
GO:0004945	angiotensin type II recep tor activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IC	cellular_component
GO:0007165	signal transduction	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	TAS	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	NAS	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IDA	biological_process
GO:0007266	Rho protein signal transd uction	IDA	biological_process
GO:0010744	positive regulation of ma crophage derived foam cel l differentiation	IC	biological_process
GO:0010873	positive regulation of ch olesterol esterification	IMP	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0019229	regulation of vasoconstri ction	IEA	biological_process
GO:0019229	regulation of vasoconstri ction	IC	biological_process
GO:0019229	regulation of vasoconstri ction	IDA	biological_process
GO:0019229	regulation of vasoconstri ction	NAS	biological_process
GO:0019722	calcium-mediated signalin g	IDA	biological_process
GO:0031711	bradykinin receptor bindi ng	IPI	molecular_function
GO:0032270	positive regulation of ce llular protein metabolic process	IMP	biological_process
GO:0032430	positive regulation of ph ospholipase A2 activity	IMP	biological_process
GO:0033864	positive regulation of NA D(P)H oxidase activity	TAS	biological_process
GO:0034374	low-density lipoprotein p article remodeling	NAS	biological_process
GO:0035813	regulation of renal sodiu m excretion	NAS	biological_process
GO:0038166	angiotensin-activated sig naling pathway	IDA	biological_process
GO:0042127	regulation of cell prolif eration	NAS	biological_process
GO:0042312	regulation of vasodilatio n	IC	biological_process
GO:0046982	protein heterodimerizatio n activity	IPI	molecular_function
GO:0050727	regulation of inflammator y response	IC	biological_process
GO:0050729	positive regulation of in flammatory response	TAS	biological_process
GO:0051482	positive regulation of cy tosolic calcium ion conce ntration involved in phos pholipase C-activating G- protein coupled signaling pathway	IDA	biological_process
GO:0060326	cell chemotaxis	IDA	biological_process
GO:0086097	phospholipase C-activatin g angiotensin-activated s ignaling pathway	IDA	biological_process
GO:2000379	positive regulation of re active oxygen species met abolic process	TAS	biological_process
GO:0001558	regulation of cell growth	NAS	biological_process
GO:0001596	angiotensin type I recept or activity	IDA	molecular_function
GO:0001596	angiotensin type I recept or activity	IPI	molecular_function
GO:0001822	kidney development	IMP	biological_process
GO:0002018	renin-angiotensin regulat ion of aldosterone produc tion	NAS	biological_process
GO:0002034	regulation of blood vesse l diameter by renin-angio tensin	IC	biological_process
GO:0003081	regulation of systemic ar terial blood pressure by renin-angiotensin	IC	biological_process
GO:0004945	angiotensin type II recep tor activity	IDA	molecular_function
GO:0004945	angiotensin type II recep tor activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IC	cellular_component
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	TAS	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	NAS	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IDA	biological_process
GO:0007266	Rho protein signal transd uction	IDA	biological_process
GO:0010744	positive regulation of ma crophage derived foam cel l differentiation	IC	biological_process
GO:0010873	positive regulation of ch olesterol esterification	IMP	biological_process
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0019229	regulation of vasoconstri ction	IC	biological_process
GO:0019229	regulation of vasoconstri ction	IDA	biological_process
GO:0019229	regulation of vasoconstri ction	NAS	biological_process
GO:0019722	calcium-mediated signalin g	IDA	biological_process
GO:0031711	bradykinin receptor bindi ng	IPI	molecular_function
GO:0032270	positive regulation of ce llular protein metabolic process	IMP	biological_process
GO:0032430	positive regulation of ph ospholipase A2 activity	IMP	biological_process
GO:0033864	positive regulation of NA D(P)H oxidase activity	TAS	biological_process
GO:0034374	low-density lipoprotein p article remodeling	NAS	biological_process
GO:0035813	regulation of renal sodiu m excretion	NAS	biological_process
GO:0038166	angiotensin-activated sig naling pathway	IDA	biological_process
GO:0042127	regulation of cell prolif eration	NAS	biological_process
GO:0042312	regulation of vasodilatio n	IC	biological_process
GO:0046982	protein heterodimerizatio n activity	IPI	molecular_function
GO:0050727	regulation of inflammator y response	IC	biological_process
GO:0050729	positive regulation of in flammatory response	TAS	biological_process
GO:0051482	positive regulation of cy tosolic calcium ion conce ntration involved in phos pholipase C-activating G- protein coupled signaling pathway	IDA	biological_process
GO:0060326	cell chemotaxis	IDA	biological_process
GO:0086097	phospholipase C-activatin g angiotensin-activated s ignaling pathway	IDA	biological_process
GO:2000379	positive regulation of re active oxygen species met abolic process	TAS	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04080  Neuroactive ligand-receptor interaction
hsa04072  Phospholipase D signaling pathway
hsa04371  Apelin signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04924  Renin secretion
hsa04270  Vascular smooth muscle contraction
hsa04925  Aldosterone synthesis and secretion
hsa04614  Renin-angiotensin system

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19141999
Amyotrophic lateral sclerosis (ALS)	PMID: 18513389
Atherosclerosis	PMID: 12394950
Cancer	PMID: 20026870
Cardiovascular disease	PMID: 12394950
Cerebral infarct	PMID: 12394950
Cerebral palsy	PMID: 19238444
Chronic obstructive pulmonary disease (COPD)	PMID: 15193960
Coronary heart disease	PMID: 12394950
Dementia	PMID: 16603315
Depression	PMID: 17499413
Diabetes	PMID: 15332573
Endometrial cancer	PMID: 22525818
Endometriosis	PMID: 19524223
Glaucoma	PMID: 12556231
Glomerulonephritis	PMID: 11865575
Hypercholesterolemia	PMID: 12394950
Hypertension	PMID: 12394950, OMIM: 106165, KEGG: H00575
Kidney disease	PMID: 19520069
Liver disease	PMID: 19302184
Metabolic syndrome	PMID: 12394950
Migraine disorders	PMID: 19178574
Nephropathy	PMID: 11776100
No�ovarian�factor (NOF)	PMID: 19524223
Oteosclerosis	PMID: 18491423
Periodontitis	PMID: 19162259
Polycystic kidney disease	PMID: 15628301
Polycystic ovary syndrome (PCOS)	PMID: 19524223
Polycystic ovary syndrome (PCOS), Poor ovarian reserve (POR), Endometriosis	PMID: 19524223
Poor ovarian response (POR)	PMID: 19524223
Preeclampsia	PMID: 15221785
Primary ovarian insufficiency (POI)	PMID: 23615648
Recurrent miscarriage	PMID: 15212666
Renal tubular dysgenesis	OMIM: 106165
Several psychiatric disorders	PMID: 19086053
Stroke	PMID: 12394950
Endometriosis	INFBASE24571615
Uremic Syndrome	PMID: 19110485

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24571615	Endometrio sis	A2350G polymorphism, I/D ACE , A1166C AT1	Polish	368 (241 endome triosis treated due to inferti lity, 127 cont rol group (with out endometrios is))		ACE AT1	Show abstract