ACE

Gene Information
 
Gene Symbol
ACE
 
Aliases
ACE1, CD143, DCP, DCP1, ICH, MVCD3
 
Entrez Gene ID
 
Gene Name
Angiotensin I converting enzyme
 
Chromosomal Location
17q23.3
 
HGNC ID
 
Summary
This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. (provided by RefSeq, May 2010)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0001822 Biological process Kidney development IMP 16116425
GO:0001974 Biological process Blood vessel remodeling IC 1668266
GO:0002005 Biological process Angiotensin catabolic process in blood IC 1668266
GO:0002019 Biological process Regulation of renal output by angiotensin IC 1668266
GO:0003081 Biological process Regulation of systemic arterial blood pressure by renin-angiotensin IC 1668266
Protein Information
 
Protein Name
Angiotensin-converting enzyme, soluble form
 
Function
Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
Accessions
IPR001548
 
Pfam
Pfam Accession Pfam ID
PF01401 Peptidase_M2 Angiotensin-converting enzyme
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Albuminuria 18354383, 14690254, 14740347, 9023709, 16873772, 16232022, 1325010, 11200871, 15249544, 15918104, 11772908, 9407458, 16123474, 9534107, 9893213, 19095597, 11007831, 1462982, 18622495, 10652037, 9551410, 8941475, 12675866, 12885103, 19720797, 15187210, 9730698, 7500786, 18326228, 8785467, 9495628, 8216441, 2044441, 2220797, 2185055, 17587389, 17534460, 16373900, 16756954, 15156690, 10412749, 9736436, 1504444, 20485689, 19667709, 18205625, 15563971, 14737848, 19141296, 14686572, 12477969, 11274272, 10464907, 9931135, 9625684, 9245072, 8857071, 8573754, 9032106, 7548979, 7519695, 1377114, 2281920, 19417859, 19332965, 17667215, 15063599, 7922255, 1382160, 2181637, 19426247, 17488145, 16095545, 15498085, 12005246, 17563560, 16755313, 15691611, 15327415, 15017527, 12865039, 10097904, 9736816, 12500217, 11510750, 10585308, 7752591, 8518536, 9606736, 9540028, 1619502, 1580274, 19502259, 18791327, 9081852, 8720542, 9269212, 7500787, 17699311
Aldosteronism secondary 2257720
Atrial fibrillation 17341525, 15596957, 9462412, 20083826, 19113795, 14973354, 18496132, 12007081, 19118720, 19265792, 15302017, 16216757, 15082699, 15199356, 17310051, 19117407, 17534249, 18215703, 15667649, 15165110, 14535023, 10221852, 17561641, 16607602, 12534856, 19656733, 18651472, 18401049, 14626517, 20066882, 18488915, 17927479, 16818212, 15690103, 11602545, 9139344, 17961427, 19327599, 18035920, 17966440, 15239160, 10421597, 9926444, 1379144, 18495720, 16568131, 17113170, 16397280, 17719288, 12693728, 10807475, 17556195, 18704341
Cardiovascular diseases 16476718, 17875946, 14704227, 11256587, 8743524, 11344778, 17504232, 16924268, 10874503, 16222900, 17898539, 8591889, 1414888, 19290794, 17103020, 11986905, 19491618, 15161784, 12643119, 9747149, 15567997, 15332219, 12818733, 12676161, 11401108, 11071385, 10483967, 9786099, 8768273, 15868120, 7713109, 19221299, 9143778, 15215792, 14608518, 11288962, 19770395, 1562174, 8886509, 9327710, 9677696, 9736776, 9808697, 10354208, 11059628, 14707162, 12873287, 12669427, 12661913, 12519409, 11498459, 11401071, 11345362, 11228171, 7602784, 7739115, 7856275, 7965262, 1381783, 2344816, 20019467, 7955173, 20066135, 12710862, 12220962, 11882622, 11835905, 10876800, 10695707, 10639547, 9868993, 9752816, 19888787, 17199216, 19878370, 18084312, 18449379, 18383770, 17885543, 17243909, 16769256, 11142763, 10999650, 10821349, 10520809, 10351920, 10794598, 9717054, 9120994, 8877073, 8872813, 8773433, 8903616, 8065033, 7512465, 1290308, 16444043, 16921734, 16462911
Cerebrovascular disease 9273825, 11155741, 12925557, 12474296, 12454231, 9242959, 11861692, 8610309, 12006218, 8713688, 10681079, 9785588, 19417859, 17938615, 17506588, 14508588, 11859923, 10939785, 10669647, 20485689, 18548143, 10575803, 15016346, 9489129, 15858957, 10934691, 15465635, 17534460
   
References
 
Primary:

Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome.

Koika Vasiliki, Georgopoulos Neoklis A, Piouka Athanasia, Roupas Nikolaos D, Karela Anastasia, Armeni Anastasia K, Katsantoni Eleni, Panidis Dimitrios
Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, University of Patras Medical School, University Hospital, Patras, Greece.
Eur J Endocrinol. 2012 Apr;166(4):695-702. Epub 2012 Jan 5.

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
24169251
[Expression and significance of ACE2-Ang-(1-7)-Mas axis in the endometrium of patients with polycystic ovary syndrome]. 
In vitro 
23461768
Studying the correlation of renin-angiotensin-system (RAS) components and insulin resistance in polycystic ovary syndrome (PCOs). 
Clinical study 
23232975, PMC3553350
Do ACE I/D gene polymorphism serve as a predictive marker for age at onset in PCOS? 
Clinical study 
22791704
Association of angiotensin-converting enzyme gene insertion/deletion polymorphism with polycystic ovary syndrome: a meta-analysis. 
Meta analysis 
22223701
Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome. 
Clinical study 

 

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