ENSG00000159640


Homo sapiens

Features
Gene ID: ENSG00000159640
  
Biological name :ACE
  
Synonyms : ACE / angiotensin I converting enzyme / P12821
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q23.3
Gene start: 63477061
Gene end: 63498380
  
Corresponding Affymetrix probe sets: 209749_s_at (Human Genome U133 Plus 2.0 Array)   227463_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000464428
Ensembl peptide - ENSP00000463673
Ensembl peptide - ENSP00000464629
Ensembl peptide - ENSP00000290863
Ensembl peptide - ENSP00000290866
Ensembl peptide - ENSP00000392247
Ensembl peptide - ENSP00000397593
Ensembl peptide - ENSP00000462002
Ensembl peptide - ENSP00000462110
Ensembl peptide - ENSP00000462280
Ensembl peptide - ENSP00000462599
Ensembl peptide - ENSP00000462909
Ensembl peptide - ENSP00000462995
NCBI entrez gene - 1636     See in Manteia.
OMIM - 106180
RefSeq - XM_006721737
RefSeq - NM_000789
RefSeq - NM_001178057
RefSeq - NM_152830
RefSeq Peptide - NP_690043
RefSeq Peptide - NP_000780
RefSeq Peptide - NP_001171528
swissprot - J3QRX8
swissprot - J3QSC7
swissprot - P12821
swissprot - A0A0A0MSN4
swissprot - J3KRH5
swissprot - J3KS28
swissprot - J3KTB8
swissprot - J3KSQ5
swissprot - J3KTH9
swissprot - J3QLR4
Ensembl - ENSG00000159640
  
Related genetic diseases (OMIM): 106180 - [Angiotensin I-converting enzyme, benign serum increase]
  267430 - Renal tubular dysgenesis, 267430
  612624 - {Microvascular complications of diabetes 3}, 612624
  614519 - {Stroke, hemorrhagic}, 614519
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
 aceENSDARG00000079166Danio rerio
 ACEENSGALG00000000498Gallus gallus
 AceENSMUSG00000020681Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC113554.1ENSG0000026481348
ACE2 / Q9BYF1 / angiotensin I converting enzyme 2ENSG0000013023420
CLTRN / Q9HBJ8 / collectrin, amino acid transport regulatorENSG000001470032


Protein motifs (from Interpro)
Interpro ID Name
 IPR001548  Peptidase M2, peptidyl-dipeptidase A


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001822 kidney development IMP
 biological_processGO:0001974 blood vessel remodeling IC
 biological_processGO:0002003 angiotensin maturation TAS
 biological_processGO:0002019 regulation of renal output by angiotensin IC
 biological_processGO:0002446 neutrophil mediated immunity ISS
 biological_processGO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS
 biological_processGO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin IMP
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0007283 spermatogenesis ISS
 biological_processGO:0008217 regulation of blood pressure ISS
 biological_processGO:0014910 regulation of smooth muscle cell migration ISS
 biological_processGO:0019229 regulation of vasoconstriction IC
 biological_processGO:0032943 mononuclear cell proliferation IC
 biological_processGO:0042447 hormone catabolic process ISS
 biological_processGO:0043171 peptide catabolic process IDA
 biological_processGO:0050435 amyloid-beta metabolic process IDA
 biological_processGO:0050482 arachidonic acid secretion IDA
 biological_processGO:0060047 heart contraction ISS
 biological_processGO:0060177 regulation of angiotensin metabolic process IDA
 biological_processGO:0060218 hematopoietic stem cell differentiation IC
 biological_processGO:0061098 positive regulation of protein tyrosine kinase activity ISS
 biological_processGO:0071838 cell proliferation in bone marrow ISS
 biological_processGO:0097746 regulation of blood vessel diameter IC
 biological_processGO:1900086 positive regulation of peptidyl-tyrosine autophosphorylation ISS
 biological_processGO:1902033 regulation of hematopoietic stem cell proliferation ISS
 biological_processGO:1903597 negative regulation of gap junction assembly ISS
 biological_processGO:2000170 positive regulation of peptidyl-cysteine S-nitrosylation ISS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IDA
 cellular_componentGO:0005768 endosome IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome IDA
 molecular_functionGO:0004175 endopeptidase activity IDA
 molecular_functionGO:0004180 carboxypeptidase activity IEA
 molecular_functionGO:0008144 drug binding IDA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0008238 exopeptidase activity IDA
 molecular_functionGO:0008240 tripeptidyl-peptidase activity IDA
 molecular_functionGO:0008241 peptidyl-dipeptidase activity IEA
 molecular_functionGO:0008270 zinc ion binding IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0031404 chloride ion binding IDA
 molecular_functionGO:0031434 mitogen-activated protein kinase kinase binding IPI
 molecular_functionGO:0031711 bradykinin receptor binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051019 mitogen-activated protein kinase binding IPI
 molecular_functionGO:0070573 metallodipeptidase activity EXP


Pathways (from Reactome)
Pathway description
Metabolism of Angiotensinogen to Angiotensins


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  / reaction






 

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