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Gene Symbol |
ACE |
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Aliases |
ACE1, CD143, DCP, DCP1 |
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Entrez Gene ID |
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Gene Name |
Angiotensin I converting enzyme |
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Chromosomal Location |
17q23.3 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
Gene |
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Transcript |
ENST00000582678, ENST00000290866, ENST00000582627, ENST00000579726, ENST00000290863, ENST00000582005, ENST00000578839, ENST00000413513, ENST00000579314, ENST00000579204, ENST00000582761, ENST00000579409, ENST00000428043 |
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Protein |
ENSP00000462995, ENSP00000290866, ENSP00000462280, ENSP00000463673, ENSP00000290863, ENSP00000462002, ENSP00000462110, ENSP00000392247, ENSP00000462599, ENSP00000464629, ENSP00000462909, ENSP00000464428, ENSP00000397593
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Gene Ontology (GO)
GO ID |
Ontology |
Function |
Evidence |
Reference |
GO:0001822 |
Biological process |
Kidney development |
IMP |
16116425 |
GO:0001974 |
Biological process |
Blood vessel remodeling |
IC |
1668266 |
GO:0002003 |
Biological process |
Angiotensin maturation |
IC |
1668266 |
GO:0002019 |
Biological process |
Regulation of renal output by angiotensin |
IC |
1668266 |
GO:0002474 |
Biological process |
Antigen processing and presentation of peptide antigen via MHC class I |
TAS |
23257181 |
GO:0003081 |
Biological process |
Regulation of systemic arterial blood pressure by renin-angiotensin |
IBA |
21873635 |
GO:0003081 |
Biological process |
Regulation of systemic arterial blood pressure by renin-angiotensin |
IC |
1668266 |
GO:0003081 |
Biological process |
Regulation of systemic arterial blood pressure by renin-angiotensin |
IMP |
174834 |
GO:0003084 |
Biological process |
Positive regulation of systemic arterial blood pressure |
IBA |
21873635 |
GO:0006508 |
Biological process |
Proteolysis |
TAS |
2554286 |
GO:0008217 |
Biological process |
Regulation of blood pressure |
ISS |
11303049 |
GO:0019229 |
Biological process |
Regulation of vasoconstriction |
IC |
1668266 |
GO:0032943 |
Biological process |
Mononuclear cell proliferation |
IC |
7876104 |
GO:0042447 |
Biological process |
Hormone catabolic process |
IDA |
7876104 |
GO:0042447 |
Biological process |
Hormone catabolic process |
ISS |
11303049 |
GO:0043171 |
Biological process |
Peptide catabolic process |
IDA |
4322742, 15283675 |
GO:0045777 |
Biological process |
Positive regulation of blood pressure |
IBA |
21873635 |
GO:0050435 |
Biological process |
Amyloid-beta metabolic process |
IDA |
18495113, 19773553 |
GO:0050482 |
Biological process |
Arachidonic acid secretion |
IDA |
17077303 |
GO:0060177 |
Biological process |
Regulation of angiotensin metabolic process |
IDA |
1851160 |
GO:0060218 |
Biological process |
Hematopoietic stem cell differentiation |
IC |
7876104 |
GO:0097746 |
Biological process |
Regulation of blood vessel diameter |
IC |
4322742 |
GO:1902033 |
Biological process |
Regulation of hematopoietic stem cell proliferation |
IC |
7876104 |
GO:0005615 |
Cellular component |
Extracellular space |
HDA |
16502470 |
GO:0005615 |
Cellular component |
Extracellular space |
IBA |
21873635 |
GO:0005615 |
Cellular component |
Extracellular space |
IDA |
1668266, 4322742, 15283675 |
GO:0005764 |
Cellular component |
Lysosome |
IDA |
11076943 |
GO:0005768 |
Cellular component |
Endosome |
IDA |
17077303 |
GO:0005886 |
Cellular component |
Plasma membrane |
IBA |
21873635 |
GO:0005886 |
Cellular component |
Plasma membrane |
IDA |
17077303 |
GO:0009897 |
Cellular component |
External side of plasma membrane |
IDA |
9449382 |
GO:0070062 |
Cellular component |
Extracellular exosome |
HDA |
19056867, 23533145 |
GO:0070062 |
Cellular component |
Extracellular exosome |
IDA |
15326289, 21082674 |
GO:0004175 |
Molecular function |
Endopeptidase activity |
IDA |
15283675, 18495113 |
GO:0008144 |
Molecular function |
Drug binding |
IDA |
1320019 |
GO:0008237 |
Molecular function |
Metallopeptidase activity |
IBA |
21873635 |
GO:0008237 |
Molecular function |
Metallopeptidase activity |
IDA |
1320019, 1668266, 2849100, 17077303 |
GO:0008237 |
Molecular function |
Metallopeptidase activity |
TAS |
2554286 |
GO:0008238 |
Molecular function |
Exopeptidase activity |
IBA |
21873635 |
GO:0008238 |
Molecular function |
Exopeptidase activity |
IDA |
2983326 |
GO:0008239 |
Molecular function |
Dipeptidyl-peptidase activity |
IBA |
21873635 |
GO:0008240 |
Molecular function |
Tripeptidyl-peptidase activity |
IDA |
2983326 |
GO:0008241 |
Molecular function |
Peptidyl-dipeptidase activity |
IBA |
21873635 |
GO:0008241 |
Molecular function |
Peptidyl-dipeptidase activity |
IDA |
1320019, 1668266, 1851160, 2849100, 6208535, 7683654, 7876104, 15283675, 17077303, 19773553 |
GO:0008241 |
Molecular function |
Peptidyl-dipeptidase activity |
ISS |
11303049 |
GO:0008241 |
Molecular function |
Peptidyl-dipeptidase activity |
TAS |
2554286 |
GO:0008270 |
Molecular function |
Zinc ion binding |
IDA |
12540854 |
GO:0031404 |
Molecular function |
Chloride ion binding |
IDA |
12540854 |
GO:0031434 |
Molecular function |
Mitogen-activated protein kinase kinase binding |
IPI |
14615289 |
GO:0031711 |
Molecular function |
Bradykinin receptor binding |
IPI |
17077303 |
GO:0051019 |
Molecular function |
Mitogen-activated protein kinase binding |
IPI |
14615289 |
GO:0070573 |
Molecular function |
Metallodipeptidase activity |
EXP |
1848554, 1851160, 2846041, 20011602 |
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Protein Information |
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Protein Name |
Angiotensin-converting enzyme, CD143 antigen, angiotensin I converting enzyme (peptidyl-dipeptidase A) 1, angiotensin converting enzyme, somatic isoform, carboxycathepsin, dipeptidyl carboxypeptidase 1, dipeptidyl carboxypeptidase I, kininase II, peptidase P |
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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 |
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UniProt |
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PDB |
5AM8, 5AMB, 1O86, 1O8A, 1UZE, 1UZF, 2C6F, 2C6N, 2IUL, 2IUX, 2OC2, 2XY9, 2XYD, 2YDM, 3BKK, 3BKL, 3L3N, 3NXQ, 4APH, 4APJ, 4BXK, 4BZR, 4BZS, 4C2N, 4C2O, 4C2P, 4C2Q, 4C2R, 4CA5, 4CA6, 4UFA, 4UFB, 5AM9, 5AMA, 5AMC, 6EN5, 6EN6, 6F9R, 6F9T, 6F9U, 6F9V, 6H5W, 6H5X |
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Pfam |
Pfam Accession |
Pfam ID |
PF01401 |
Peptidase_M2 |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000355627 |
P01019 |
P01019 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Cardiovascular Diseases |
Myocardial Infarction |
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Coronary heart disease |
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Heart Failure |
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Arteriosclerosis |
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Hypertensive disease |
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Atrial Fibrillation |
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Left Ventricular Hypertrophy |
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Coronary Restenosis |
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Myocardial Failure |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Renal Tubular Dysgenesis With Choanal Atresia And Athelia |
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Infant, Premature, Diseases |
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Digestive System Diseases |
Non-alcoholic Fatty Liver Disease |
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Endocrine System Diseases |
Glomerulosclerosis |
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Gaucher Disease |
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PCOS |
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Immune System Diseases |
Glomerulonephritis |
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Neoplasms |
Liver Cancer |
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Cribriform Carcinoma |
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Adenocarcinoma |
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Prostate cancer |
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Stomach Cancer |
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Carcinoma |
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Lung Cancer |
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Gastric Cancer |
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Nervous System Diseases |
Cerebral Ischemia |
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Stroke |
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Nutritional and Metabolic Diseases |
Glycogen Storage Disease |
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Gluocose Intolerance |
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Psychiatric/Brain disorders |
Alzheimer Disease |
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Mental Depression |
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Schizophrenia |
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Senile Dementia |
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Autistic Disorder |
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Bipolar Disorder |
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Obstructive Sleep Apnea |
26486181, 31064975, 23359027, 23609427, 17351369, 23371888, 17520798, 11016793, 19482546, 20182789, 15526842, 15571307, 11360521, 11601275, 15387996, 20449805, 17274884 |
Renal Disorder |
Diabetic Nephropathy |
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Kidney Failure |
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Kidney Insufficiency |
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Allanson Pantzar McLeod syndrome |
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Reproductive disorders |
Male infertility |
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Preeclampsia |
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Respiratory Tract Diseases |
Respiratory Distress Syndrome |
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Beryllium Disease |
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Pneumonia |
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References |
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Ozegowska Katarzyna, Bogacz Anna, Bartkowiak-Wieczorek Joanna, Seremak-Mrozikiewicz Agnieszka, Pawelczyk Leszek |
Department of Infertility and Reproductive Endocrinology, Poznan University of Medical Sciences, 60535 Poznan, Poland.| Department of Pharmacology and Phytochemistry, Institute of Natural Fibers and Medicinal Plants, 61707 Poznan, Poland.| Department of Pharmacology and Phytochemistry, Institute of Natural Fibers and Medicinal Plants, 61707 Poznan, Poland.| Laboratory of Molecular Biology, Division of Perinatology and Women's Diseases, Poznan University of Medical Sciences, 60535 Poznan, Poland.| Department of Infertility and Reproductive Endocrinology, Poznan University of Medical Sciences, 60535 Poznan, Poland. |
Mol Med Rep. 2016 Dec;14(6):5401-5407. doi: 10.3892/mmr.2016.5910. Epub 2016 Oct |
Abstract
Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. A number of PCOS complications may be associated with the elevated level of angiotensin II and low bradykinin concentrations. The aim of the present study was to investigate the frequencies of angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphisms in women with PCOS and to determine the association between ACE genetic variants and the risk of metabolic and cardiovascular complications in such women. A total of 138 PCOS patients and 110 healthy volunteers were enrolled. Cardiovascular risk was estimated according to the criteria of the American Heart Association and Androgen Excess and PCOS Society. The median average age was 28.5 (26.031.0) and 27.0 (24.030.0) years in the control and PCOS groups, respectively (P=0.004). Anthropometric parameters, including body mass index and waist circumference were significantly higher in the PCOS patients. In the PCOS group, 97 (57.4%) of the subjects were metabolically unhealthy, whereas, in the control group 51 (46.4%) subjects were (P=0.07). The II, ID, and DD genotypes frequencies were 29.1, 44.5, and 26.4% in the controls and 5.0, 37.7, and 57.3% in the PCOS patients. The cardioprotective I allele was observed significantly less frequently in the women with PCOS compared with the controls [odds ratio (OR), 3.27; P=0.0001]. The DD genotype, which is known to increase cardiovascular risk, was more frequently observed in PCOS patients (OR, 3.87; P=0.0003), whereas the cardioprotective II genotype occurred in this group less frequently (OR, 0.4; P=0.06). The results of the present study demonstrated a statistically significant association between the ACE I/D polymorphism and the presence and intensity of metabolic disturbances in women with PCOS. |
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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. doi: 10.1530/EJE-11-0894. Epub 2012 |
Abstract
OBJECTIVE: The polycystic ovary syndrome (PCOS) is a common and complex disease with unclear pattern of inheritance, characterized by an androgen excess, while hyperinsulinemia and insulin resistance (IR) are common features of the syndrome. The angiotensin I converting enzyme (ACE) insertion (I)/deletion (D) gene polymorphism was proved to be involved in many pathophysiological conditions, including hypertension and IR. DESIGN: The purpose of this study was to evaluate the involvement of the ACE gene polymorphism in the pathogenesis of PCOS. METHODS: In a case-control association study involving 801 PCOS women and 266 healthy controls, hormonal determinations and ACE polymorphism genotyping were performed. The PCOS women were classified into three groups: Group A presented biochemical hyperandrogenism, combined with anovulation and polycystic ovarian morphology; Group B, clinical hyperandrogenism combined with anovulation and polycystic ovarian morphology; and Group C, chronic anovulation and polycystic ovarian morphology. RESULTS: A significant increase in the frequency of the DI genotype of the ACE polymorphism was detected in PCOS women as a whole (P=0.035), in PCOS Group A (P=0.039) and Group B (P=0.010), while there was no difference in Group C (P=0.939). Significant difference was also observed in hyperandrogenic PCOS women as a whole (Group A+B) (P=0.017). The II genotype was positively correlated with HOMA-IR and QUICKI and with fasting insulin and glucose/insulin ratio in these groups. CONCLUSIONS: The association study of the ACE I/D polymorphism in PCOS women demonstrates an increase in the DI genotype incidence and an association of the II genotype with IR. |
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