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Gene Symbol |
ACE |
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Aliases |
ACE1, CD143, DCP, DCP1, ICH, MVCD3 |
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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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UniGene |
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Angiotensin-converting enzyme, soluble form |
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Function |
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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 |
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 |
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InterPro |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF01401 |
Peptidase_M2 |
Angiotensin-converting enzyme |
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KEGG |
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OMIM |
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Phenotype MIM ID |
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| 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 |
| Diabetes mellitus |
11708761, 9727375, 15449970, 16927782, 12669270, 18563171, 12549943, 8781765, 19960016, 1887341, 1558007, 7479254, 8785466, 10454299, 11428725, 11579840, 12501871, 7666600, 17611180, 18446054, 18047925, 17194172, 17132882, 16181876, 15599570, 14968142, 2257721, 19888787, 17534460, 17240286, 17212194, 16718629, 16512390, 15156690, 14748099, 9638389, 9607207, 9284425, 17827815, 16949774, 12692747, 12643119, 11387483, 11071585, 1887338, 20096841, 20161908, 20104936, 12856080, 18326970, 18095949, 18069190, 17401312, 11893827, 10981145, 10353294, 9988284, 9443774, 1283588, 2194280, 20485689, 17587647, 16826777, 16183956, 14695037, 12472780, 12466317, 11887556, 11753736, 11403100, 10569326, 10551431, 9596955, 8875691, 16755313, 15896240, 15853700, 15523303, 15200407, 12921820, 11860787, 10192232, 10052645, 10703538, 10551436, 9832168, 8914031, 8761013, 7769497, 8387241, 12807644, 11200307, 10874503, 10399995, 9443424, 9378433, 9068512, 8523387, 11944760, 16164648, 12501871, 15449965, 9950302, 11242497, 12856080, 1436257, 10099077, 7957503, 8761013, 10703538, 10205747, 9179532, 18413222, 17295666, 16078599, 15698442, 11190292, 10474023, 9509566, 7729604, 7909524, 8443481, 11274272, 11260405, 11181984, 11030017, 9867063, 1462982, 10332539, 9794558, 9581728, 9532515, 9407417, 8686181, 10353294, 9551410, 9239416, 10169388, 7558219, 7939913, 11796177, 10499884, 10027935, 8948517, 9741257, 7485207, 9817188, 10077416, 11437859 |
| Dyslipidemia |
15814871, 10781757, 15019865, 16496609, 10852664, 14728081, 12566371, 16130596, 10803441, 19256260 |
| Erythrocytosis |
7666600, 7624954, 8879861, 7573190, 9681727, 10230744, 7645558, 15621121, 7607751, 7940809, 11502994, 12384621, 15866681, 9247784, 10809436, 18339134 |
| Essential hypertension |
8686957, 9626985, 8076423, 16866021, 18843651, 7965276, 9524045, 7734106, 7820539, 8989733, 18024289, 19130799, 11043512, 7584934, 8761842, 11345362, 16496609, 9234834, 9205940, 9037328, 1314601, 14665725, 11244019, 10549404, 9607178, 9120994, 8877595, 8877075, 8751016, 7594444, 2189073, 15788353, 11693763, 11355044, 11131271, 9139273, 1395466, 19865106, 14871059, 8879340, 8613205, 8485825, 19789415, 15673060, 11325081, 11024215, 10824049, 10821136, 8989118, 8675271, 18219959, 10673731, 9324115, 9321747, 9101306, 17984484, 17131847, 9111529, 1712268, 16029995, 17547476, 15042113, 12901825, 12891272, 16060413, 2142429, 1576057, 1639459, 8078206, 7923904, 7700074, 8743524, 12425201, 12022207, 11300367, 10862468, 10836730, 9579768, 15073980, 9488241, 8877275, 8141090, 7512489, 8122853, 1321247, 1994180, 1981218, 2188438, 20422943, 16266472, 12632903, 11926202, 11392475, 11277342, 11090788, 11116113, 10560791, 9514183, 9728481 |
| Glomerulosclerosis |
12154518, 9218194, 9016898, 12467154, 8285177, 7959418, 8569988, 9481735, 7898095, 12819233, 8743536, 9590186, 12172760, 10986155, 10398547, 8538349, 8439644, 1436345, 1382163, 2220796, 8845084, 10997697, 15613060, 16395266, 8643203 |
| Infarct |
11504163, 7585774, 7786840, 8677863, 8840838, 8357329, 11835905, 8862221, 20424560, 8513428, 7916201, 15872342, 10097243, 8529801, 1686544, 1725050, 1304144, 7693427, 8677862, 9245070, 9242959, 9469636, 9546631, 10486698, 12940536, 16126553, 16741630, 2181851, 8095738, 8415337, 8076657, 11712321, 10552190, 9422854, 9193426, 9167457, 9036352, 9023710, 7856283, 7827370, 17556876, 15967846, 12944039, 12806587, 11713892, 9796838, 9707265, 9458446, 9385337, 1471600, 1893637, 19505282, 16911911, 15907144, 15144937, 14974331, 11171788, 9805568, 7648653, 7599749, 7598478, 9209537, 7965271, 7726123, 16801465, 15002705, 12671327, 11774772, 10569326, 10346417, 9786099, 9562938, 9429843, 9294785, 8949315, 8800625, 7661384, 7899404, 7531176, 9049514, 8995000, 8104243, 8329800, 1302164, 19192258, 15519017, 12509479, 7965277, 8076659, 1299942, 1337911, 1977673, 15671045, 12220962, 12022543, 9347267, 9431480, 9458425, 9611729 |
| Nephrotic syndrome |
16272677, 10692263, 16421456, 15490252, 16703378, 18792483, 16825089, 16550752, 18790651, 16208534, 20418353, 16078594, 14579142, 2181637, 14986085, 1436345, 16525944, 19830148, 17199794, 11530709, 11487079, 16645262, 12923721, 9426847 |
| Renal disease |
17506717, 11258145, 12501871, 12570791, 9396347, 10686580, 15610250, 11453706, 11532109, 10353294, 12500217, 11522715, 17269843, 9727375, 9817188, 16395266, 1382162, 11676896, 11682661, 16797382, 12477155, 10816725, 9649960, 8914031, 15793268, 11984747, 14686572, 10499562, 15698420, 12831343, 11228170, 10971153, 10739792, 16797293, 12437489, 16873597, 12467154, 7555560, 17429318, 16710287, 12965979, 10620209, 10328464, 8979005, 10077416, 10099077, 11774115, 10619572, 10099045, 8879974, 8720609, 1986589, 16206711, 15338496, 12684706, 17878652, 16123474, 14871059, 12511531, 12003699, 11821641, 11106834, 10437863, 10027935, 9010883, 8205465, 15691616, 15938036, 15012717, 10955109, 9726242, 8941475, 7946803, 8948517, 19696696, 16960460, 16543688, 15485427, 15284309, 12757997, 12553490, 19587550, 17699280, 16157080, 15156527, 14636907, 12818733, 9179532, 9001898, 8477465, 20104936, 18371537, 17295666, 15369420, 12911535, 12753883, 10028949, 9257079, 12701984 |
| Renovascular |
19212024, 2267279, 1314991, 8064786, 9800739, 10604640, 10741903, 15106809, 2285615, 10676718, 11289190, 14718831, 1777181, 8061843, 8294993, 1777188, 12017215, 15198481, 10818079, 11687678, 12781904 |
| Restenosis |
11893827, 9126666, 11156871, 12521626, 7554183, 11343737, 12798565, 10535720, 17928625, 1653645, 14727976, 9445166, 11691520, 11800416, 10889131, 9396424, 15101817, 8485825, 18706898, 15907144, 18422391, 16272779, 9462611, 8078206, 7946805, 18190989, 11176016, 7965277, 10887054, 1804629, 9347263, 7614074, 7723497, 7965271, 19238723, 12205735, 10670180, 11849656, 11665795, 9736342, 7994801, 9553407, 7634441, 7917678, 17761934, 11675825, 11244007, 9236417, 8598064, 7737732, 7850980, 12473258, 11954942, 11950431, 10439670, 8831406, 16263350, 12397691, 9245114, 8842352, 9327710, 11155292 |
| Retinopathy |
10499884, 15019597, 8720609, 8314010, 10480521, 8989733, 14632165, 18382886, 8387241, 1336356, 9509566, 9407417, 7555560, 8582133, 10205747, 2157294, 17178168, 11437859, 8587251, 9498629, 12140727, 11024588, 7729604, 17321627, 12269846, 11126403, 9433426, 15387897, 15563971, 12449516, 11403100, 9258285, 9179532, 10404692, 1668655, 12477155, 20373882, 18662348, 16095545, 11824650, 9120002, 18034559, 9872248, 8903867, 12660488, 17199216, 10711571, 15249544, 12873287 |
| Sarcoidosis pulmonary |
15109125, 1345229, 8532961, 1965306, 8468809, 11855079, 19722355 |
| Sclerosis systemic |
2382917, 1962660, 1325530, 11033587, 11407102, 10200812, 12678062, 12015245, 2173047, 16295521, 19132786, 17878652 |
| Stroke |
15338854, 8903617, 14643574, 16446094, 17922891, 8610309, 12507406, 9489536, 8620347, 12849483, 12562541, 12775305, 12194796, 7990099, 11150655, 11155741, 10932009, 16636230, 16162624, 15277610, 15007267, 15858957, 8784123, 16905022, 15277638, 15093864, 10653133, 15598916, 15079800, 11774217, 9918518, 12466317, 20031903, 17971644, 15977915, 12830507, 11901939, 11720769, 20306667, 19409352, 18810239, 9242959, 9607375, 9677696, 10354208, 12022207, 14681818, 16403771, 18607150, 12830537, 11192359, 11081782, 10895836, 9711444, 19588327, 19899640, 19728749, 18027070, 16479962, 15564565, 12925557, 12743244, 12702833, 12556670, 11901904, 11581138, 11201013, 15705422, 14689111, 12943483, 12777939, 12652822, 11835907, 11822540, 11718065, 10721443, 11130523, 10894450, 9118985, 8713688, 8576937, 19372095, 17577432, 18095949, 17537156, 17556876, 17171228, 16768130, 16442232, 10378909, 1339619, 20300047, 20161734, 19275271, 18587726, 18650598, 18288516, 11071585, 10551436 |
| Vascular diseases |
18378520, 15010349, 10575803, 15531767, 10334415, 10478702, 11192349, 8610309, 8867560, 10553806, 18953361, 16075030, 12925557, 12819233, 11122766, 10981174, 10816725, 10701811, 10076922, 20518725, 16399887, 15662077, 15531768, 12626309, 12708881, 19273063, 10446079, 7546630, 20302552, 19477351, 16077146, 15748535, 15353497, 12507410, 12478497, 11773984, 11712769, 11018310, 9736438, 7946801, 8370246, 20102972, 18404606, 17186537, 17245323, 11705418, 16047566, 15162910, 15016346, 9422848, 18629615, 18981997, 10676718, 9264004, 8805787, 11965830, 12383592, 17030155 |
| Ventricular dilatation |
12968195, 1686544, 8565174, 10362349, 2181851, 8331801, 9236425, 1449447, 7744373, 1495520, 8922912, 7572651, 10754598, 9115954, 9731689, 11774772, 9553407, 8793580, 1299942, 8011563, 9458425, 10220542 |
| Ventricular dysfunction |
12959631, 15095572, 8279354, 7942494, 9429846, 10077374, 9577953, 8049587, 10473016, 11588410, 1746414, 11058931, 11262999, 8174572, 14728050, 15732029, 8829963 |
| Ventricular hypertrophy |
10335726, 8598840, 8989733, 17131847, 16136003, 19997001, 7965273, 9364280, 7820539, 8582095, 19770395, 8315516, 12945221, 12891272, 10918550, 1832601, 8485825, 15612584, 10821136, 11419037, 7965272, 8862221, 8177269, 10673731, 11325074, 9139273, 15555355, 19878370, 9486935, 2353405, 2261146, 1283190, 1283578, 8076423, 8986921, 9140674, 9227291, 9469636, 10096034, 9845769, 9646008, 9462412, 9231891, 7758176, 7946799, 17971798, 17532677, 8800593, 8681317, 8984131, 8583476, 7614507, 7603076, 7807511, 1667052, 1660796, 12001872, 12035456, 11494879, 10639182, 10491730, 9707265, 9607207, 9589245, 9489129, 10354958, 10532509, 9820440, 9690230, 9657621, 9101306, 8869132, 7671365, 7664416, 12484510, 11208681, 11153722, 7994801, 19491615, 15788353, 15523303, 15332573, 14689111, 12906984, 12613273, 9370181, 8329800, 1725549, 2193808, 19478476, 18443191, 17591533, 15314809, 15195836, 12754885, 11334776, 9760806, 9683053, 9175047 |
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References |
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Primary:
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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. Epub 2012 Jan 5. |
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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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 |
| 21939743 |
Association of angiotensin converting enzyme (ACE) gene I/D polymorphism and polycystic ovary syndrome (PCOS). |
Clinical study |
| 21536229, PMC3093922 |
Cardiovascular-renal and metabolic characterization of a rat model of polycystic ovary syndrome. |
Animal study |
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| © 2015, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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