Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ECE1 | Human | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase | ClinVar | PMID:28492532 | ECE1 | Human | congenital disorder of glycosylation Ir | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir | ClinVar | PMID:28492532 | ECE1 | Human | Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | PMID:8530372 and PMID:9915973 | ECE1 | Human | Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | | ECE1 | Human | Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | PMID:25741868 | ECE1 | Human | Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | PMID:25741868 and PMID:34298581 | ECE1 | Human | Hirschsprung's disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar | | ECE1 | Human | hyperprolinemia type 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperprolinemia type 2 | ClinVar | PMID:28492532 | ECE1 | Human | Parkinson's disease 6 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Human Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Renal endothelin-converting enzyme in rats with congestive heart failure. | Abassi Z, etal., J Cardiovasc Pharmacol. 1998;31 Suppl 1:S31-4. |
| 2. | Endothelin converting-enzyme-1 mRNA expression in human cardiovascular disease. | Bohnemeier H, etal., Clin Exp Hypertens. 1998 May;20(4):417-37. |
| 3. | Increased endothelin-1 reactivity and endothelial dysfunction in carotid arteries from rats with hyperhomocysteinemia. | de Andrade CR, etal., Br J Pharmacol. 2009 Jun;157(4):568-80. Epub 2009 Apr 9. |
| 4. | Selective upregulation of endothelin converting enzyme-1a in the human failing heart. | Ergul A, etal., J Card Fail. 2000 Dec;6(4):314-20. |
| 5. | Enhanced expression of renal endothelin-converting enzyme-1 and endothelin-A-receptor mRNA in rats with interstitial fibrosis following ureter ligation. | Feldman DL, etal., J Cardiovasc Pharmacol. 2000 Nov;36(5 Suppl 1):S255-9. |
| 6. | Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: the EVA study. | Funalot B, etal., J Hypertens. 2004 Apr;22(4):739-43. |
| 7. | Endothelin-converting enzyme-1 is expressed in human cerebral cortex and protects against Alzheimer's disease. | Funalot B, etal., Mol Psychiatry. 2004 Dec;9(12):1122-8, 1059. |
| 8. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 9. | Up-regulation of endothelin-converting-enzyme mRNA expression following cardioplegic arrest. | Goodwin AT, etal., Clin Sci (Lond). 2002 Aug;103 Suppl 48:206S-209S. |
| 10. | Endothelin-converting enzyme-1-mediated signaling in adult rat ventricular myocyte contractility and apoptosis during sepsis. | Gupta A, etal., J Mol Cell Cardiol. 2005 Mar;38(3):527-37. |
| 11. | A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. | Hofstra RM, etal., Am J Hum Genet 1999 Jan;64(1):304-8. |
| 12. | Increased renal medullary endothelin-1 synthesis in prehypertensive DOCA- and salt-treated rats. | Hsieh TJ, etal., Am J Physiol Renal Physiol. 2000 Jul;279(1):F112-21. |
| 13. | Regulation of endothelin-converting enzyme 1 in nephrotic syndrome in rats. | Ikebe M, etal., Nephron Exp Nephrol. 2003;94(4):e137-45. |
| 14. | Expression and localization of human endothelin-converting enzyme-1 isoforms in symptomatic atherosclerotic disease and saphenous vein. | Jackson CD, etal., Exp Biol Med (Maywood). 2006 Jun;231(6):794-801. |
| 15. | Diabetes and radiocontrast media increase endothelin converting enzyme-1 in the kidney. | Khamaisi M, etal., Kidney Int. 2008 Jul;74(1):91-100. doi: 10.1038/ki.2008.112. Epub 2008 Apr 2. |
| 16. | Prophylactic use of melatonin protects against focal cerebral ischemia in mice: role of endothelin converting enzyme-1. | Kilic E, etal., J Pineal Res. 2004 Nov;37(4):247-51. |
| 17. | Attenuation of SAH-induced cerebral vasospasm by a selective ECE inhibitor. | Kwan AL, etal., Neuroreport. 2002 Feb 11;13(2):197-9. |
| 18. | Protective effect of SM-19712, a novel and potent endothelin converting enzyme inhibitor, on ischemic acute renal failure in rats. | Matsumura Y, etal., Jpn J Pharmacol. 2000 Sep;84(1):16-24. |
| 19. | Endothelin-converting enzyme expression in the rat vascular injury model and human coronary atherosclerosis. | Minamino T, etal., Circulation. 1997 Jan 7;95(1):221-30. |
| 20. | Increased immunoreactivities against endothelin-converting enzyme-1 and monocyte chemotactic protein-1 in hepatic stellate cells of rat fibrous liver induced by thioacetamide. | Nagata T, etal., Med Mol Morphol. 2005 Sep;38(3):161-72. |
| 21. | Intranephron distribution and regulation of endothelin-converting enzyme-1 in cyclosporin A-induced acute renal failure in rats. | Nakayama Y, etal., J Am Soc Nephrol. 1999 Mar;10(3):562-71. |
| 22. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 23. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 24. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 25. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 26. | Endothelin-converting enzyme inhibition in the rat model of acute heart failure: heart function and neurohormonal activation. | Rufanova VA, etal., Exp Biol Med (Maywood). 2009 Oct;234(10):1201-11. doi: 10.3181/0902-RM-62. Epub 2009 Jul 13. |
| 27. | Tissue endothelin-converting enzyme activity correlates with cardiovascular risk factors in coronary artery disease. | Ruschitzka F, etal., Circulation. 2000 Sep 5;102(10):1086-92. |
| 28. | Cloning and functional expression of endothelin-converting enzyme from rat endothelial cells. | Shimada K, etal., J Biol Chem 1994 Jul 15;269(28):18275-8. |
| 29. | [Chronic theatment with an endothelin-converting enzyme inhibitor reduces the development of hypoxia-induced pulmonary hypertension in rat]. | Simonova AI, etal., Ross Fiziol Zh Im I M Sechenova. 2008 Jul;94(7):777-84. |
| 30. | Inhibition of endothelin-converting enzyme attenuates transplant vasculopathy and rejection in rat cardiac allografts. | Simonson MS, etal., Transplantation. 1999 Jun 27;67(12):1542-7. |
| 31. | Rosmarinic acid administration attenuates diabetes-induced vascular dysfunction of the rat aorta. | Sotnikova R, etal., J Pharm Pharmacol. 2013 May;65(5):713-23. doi: 10.1111/jphp.12037. Epub 2013 Feb 27. |
| 32. | Role of endogenous endothelin-1 in post-ischemic cardiac dysfunction and norepinephrine overflow in rat hearts. | Tawa M, etal., Eur J Pharmacol. 2008 Sep 4;591(1-3):182-8. Epub 2008 Jun 14. |
| 33. | Expression of endothelin-1, endothelin-3, endothelin-converting enzyme-1, and endothelin-A and endothelin-B receptor mRNA after angioplasty-induced neointimal formation in the rat. | Wang X, etal., Circ Res. 1996 Feb;78(2):322-8. |
| 34. | Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. | Yanagisawa H, etal., Development 1998 Mar;125(5):825-36. |
| 35. | Role of Endothelin-1/Endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice. | Yanagisawa H, etal., J Clin Invest 1998 Jul 1;102(1):22-33. |
| 36. | Alteration of endothelin system and calcium handling protein in left ventricles following drug treatment in dilated cardiomyopathy rats. | Zhang JN, etal., Acta Pharmacol Sin. 2003 Nov;24(11):1099-102. |
Additional References at PubMed
| PMID:7695628 | PMID:7805846 | PMID:7864876 | PMID:8062389 | PMID:8530372 | PMID:8641140 | PMID:8889548 | PMID:9253714 | PMID:9396733 | PMID:9449382 | PMID:9595387 | PMID:9710124 |
| PMID:10438732 | PMID:10491078 | PMID:10620363 | PMID:10833511 | PMID:11723113 | PMID:11906289 | PMID:12011762 | PMID:12244060 | PMID:12393864 | PMID:12464614 | PMID:12477932 | PMID:12609744 |
| PMID:14597855 | PMID:15010576 | PMID:15146197 | PMID:15240857 | PMID:15342556 | PMID:15489334 | PMID:15665524 | PMID:16023075 | PMID:16234608 | PMID:16263699 | PMID:16289162 | PMID:16344560 |
| PMID:16526315 | PMID:16531800 | PMID:16567585 | PMID:16698938 | PMID:16710414 | PMID:16986361 | PMID:17081983 | PMID:17264805 | PMID:17295044 | PMID:17545092 | PMID:17592116 | PMID:17618613 |
| PMID:17664854 | PMID:17701914 | PMID:17712175 | PMID:17761169 | PMID:17897319 | PMID:17977716 | PMID:18029348 | PMID:18039931 | PMID:18334739 | PMID:18660489 | PMID:18781169 | PMID:18974277 |
| PMID:18992253 | PMID:19056867 | PMID:19222484 | PMID:19289136 | PMID:19531493 | PMID:19889475 | PMID:19913121 | PMID:19946888 | PMID:20037208 | PMID:20301612 | PMID:20345647 | PMID:20346360 |
| PMID:20485444 | PMID:20538960 | PMID:20558134 | PMID:20628086 | PMID:20663017 | PMID:20725143 | PMID:21554123 | PMID:21777246 | PMID:21851036 | PMID:21873635 | PMID:22027013 | PMID:22199357 |
| PMID:22268729 | PMID:22322595 | PMID:22416137 | PMID:22693153 | PMID:22728136 | PMID:22731820 | PMID:22810586 | PMID:22939629 | PMID:22972025 | PMID:23022525 | PMID:23175834 | PMID:23251661 |
| PMID:23283972 | PMID:23360525 | PMID:23816989 | PMID:23863409 | PMID:24000822 | PMID:24026618 | PMID:24497914 | PMID:24595843 | PMID:24755837 | PMID:24812665 | PMID:24898255 | PMID:25179465 |
| PMID:25226840 | PMID:25268585 | PMID:25416956 | PMID:25469848 | PMID:25501500 | PMID:26167880 | PMID:26186194 | PMID:26514267 | PMID:26543229 | PMID:26806547 | PMID:27036146 | PMID:28171705 |
| PMID:28514442 | PMID:28718761 | PMID:29507755 | PMID:29568061 | PMID:29978582 | PMID:30194290 | PMID:30626614 | PMID:30926432 | PMID:31777301 | PMID:31788944 | PMID:31871319 | PMID:32107880 |
| PMID:32170981 | PMID:32278308 | PMID:32296183 | PMID:32409323 | PMID:33545068 | PMID:33845483 | PMID:33961781 | PMID:34079125 | PMID:34432599 | PMID:34709727 | PMID:34857952 | PMID:35271311 |
| PMID:35337019 | PMID:35575683 | PMID:35645613 | PMID:35696571 | PMID:35748872 | PMID:35906200 | PMID:36215168 | PMID:36635757 | PMID:37232246 | PMID:37271044 | PMID:37559140 | PMID:37616343 |
| PMID:38569033 | PMID:38777146 | PMID:38945485 | PMID:39443981 |
Genomics
Comparative Map Data
| ECE1 (Homo sapiens - human) |
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| Ece1 (Mus musculus - house mouse) |
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| Ece1 (Rattus norvegicus - Norway rat) |
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| Ece1 (Chinchilla lanigera - long-tailed chinchilla) |
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| ECE1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ECE1 (Canis lupus familiaris - dog) |
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| Ece1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ECE1 (Sus scrofa - pig) |
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| ECE1 (Chlorocebus sabaeus - green monkey) |
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| Ece1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in ECE1
86 total Variants 
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