ENSG00000144891


Homo sapiens

Features
Gene ID: ENSG00000144891
  
Biological name :AGTR1
  
Synonyms : AGTR1 / angiotensin II receptor type 1 / P30556
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q24
Gene start: 148697784
Gene end: 148743008
  
Corresponding Affymetrix probe sets: 205357_s_at (Human Genome U133 Plus 2.0 Array)   208016_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000418851
Ensembl peptide - ENSP00000418084
Ensembl peptide - ENSP00000419422
Ensembl peptide - ENSP00000419783
Ensembl peptide - ENSP00000273430
Ensembl peptide - ENSP00000385612
Ensembl peptide - ENSP00000385641
Ensembl peptide - ENSP00000398832
NCBI entrez gene - 185     See in Manteia.
OMIM - 106165
RefSeq - NM_000685
RefSeq - NM_004835
RefSeq - NM_009585
RefSeq - NM_031850
RefSeq - NM_032049
RefSeq Peptide - NP_114438
RefSeq Peptide - NP_000676
RefSeq Peptide - NP_004826
RefSeq Peptide - NP_033611
RefSeq Peptide - NP_114038
swissprot - Q53YY0
swissprot - D3DNG8
swissprot - A0A0A0MSE3
swissprot - P30556
Ensembl - ENSG00000144891
  
Related genetic diseases (OMIM): 145500 - {Hypertension, essential}, 145500
  267430 - Renal tubular dysgenesis, 267430
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 agtr1aENSDARG00000018616Danio rerio
 agtr1bENSDARG00000045443Danio rerio
 AGTR1ENSGALG00000038512Gallus gallus
 Agtr1aENSMUSG00000049115Mus musculus
 Agtr1bENSMUSG00000054988Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AGTR2 / P50052 / angiotensin II receptor type 2ENSG0000018077229
APLNR / P35414 / apelin receptorENSG0000013481727
BDKRB2 / P30411 / bradykinin receptor B2ENSG0000016839826
GPR25 / O00155 / G protein-coupled receptor 25ENSG0000017012826
GPR15 / P49685 / G protein-coupled receptor 15ENSG0000015416525
BDKRB1 / P46663 / bradykinin receptor B1ENSG0000010073925
RXFP3 / Q9NSD7 / relaxin/insulin like family peptide receptor 3ENSG0000018263125
ACKR3 / P25106 / atypical chemokine receptor 3ENSG0000014447624
GPR182 / O15218 / G protein-coupled receptor 182ENSG0000016685622
RXFP4 / Q8TDU9 / relaxin/insulin like family peptide receptor 4ENSG0000017308021


Protein motifs (from Interpro)
Interpro ID Name
 IPR000190  Angiotensin II receptor type 1
 IPR000248  Angiotensin II receptor family
 IPR000276  G protein-coupled receptor, rhodopsin-like
 IPR017452  GPCR, rhodopsin-like, 7TM


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001558 regulation of cell growth NAS
 biological_processGO:0001822 kidney development IMP
 biological_processGO:0002018 renin-angiotensin regulation of aldosterone production NAS
 biological_processGO:0002034 regulation of blood vessel diameter by renin-angiotensin IC
 biological_processGO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin IC
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IDA
 biological_processGO:0007266 Rho protein signal transduction IDA
 biological_processGO:0010744 positive regulation of macrophage derived foam cell differentiation IC
 biological_processGO:0010873 positive regulation of cholesterol esterification IMP
 biological_processGO:0019229 regulation of vasoconstriction IEA
 biological_processGO:0019722 calcium-mediated signaling IDA
 biological_processGO:0032270 positive regulation of cellular protein metabolic process IMP
 biological_processGO:0032430 positive regulation of phospholipase A2 activity IMP
 biological_processGO:0033864 positive regulation of NAD(P)H oxidase activity TAS
 biological_processGO:0034374 low-density lipoprotein particle remodeling NAS
 biological_processGO:0035813 regulation of renal sodium excretion NAS
 biological_processGO:0038166 angiotensin-activated signaling pathway IEA
 biological_processGO:0042127 regulation of cell proliferation NAS
 biological_processGO:0050727 regulation of inflammatory response IC
 biological_processGO:0050729 positive regulation of inflammatory response TAS
 biological_processGO:0051482 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway IDA
 biological_processGO:0060326 cell chemotaxis IDA
 biological_processGO:0086097 phospholipase C-activating angiotensin-activated signaling pathway IDA
 biological_processGO:0097746 regulation of blood vessel diameter IC
 biological_processGO:1903589 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis IGI
 biological_processGO:2000379 positive regulation of reactive oxygen species metabolic process TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IC
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0001596 angiotensin type I receptor activity IPI
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IEA
 molecular_functionGO:0004945 angiotensin type II receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031711 bradykinin receptor binding IPI
 molecular_functionGO:0046982 protein heterodimerization activity IPI


Pathways (from Reactome)
Pathway description
Peptide ligand-binding receptors
G alpha (q) signalling events
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000079 Abnormality of the urinary tract 
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0001562 Oligohydramnios 
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 HP:0002009 Potter facies 
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 HP:0002089 Pulmonary hypoplasia 
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 HP:0002093 Respiratory insufficiency 
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 HP:0002615 Hypotension 
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 HP:0004492 Widely patent fontanels and sutures "An abnormally increased width of the cranial sutures of striking degree." [HPO:curators]
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 HP:0008660 Renotubular dysgenesis 
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 HP:0100519 Anuria "Absence of urine, clinically classified as below 50ml/day." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000135744 AGT / P01019 / angiotensinogen  / complex / reaction






 

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