Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.
| RefSeq Version | NM_000789.3, 307691163 |
| Length | 4969 bp |
| Structure | linear |
| Update Date | 10-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. |
| Product | angiotensin-converting enzyme isoform 1 precursor |
| Comment | 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]. Transcript Variant: This variant (1), also known as the endothelial or somatic form, represents the longest transcript and encodes the longest isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. |
| RefSeq | NP_000780.1 |
| CDS | 35..3955 | Exon (1) | 1..283 | Exon (2) | 1..283 | Exon (3) | 284..451 | Exon (4) | 452..545 | Exon (5) | 546..689 | Exon (6) | 690..881 | Exon (7) | 882..979 | Exon (8) | 980..1152 | Exon (9) | 1153..1376 | Exon (10) | 1377..1521 | Exon (11) | 1522..1620 | Exon (12) | 1621..1743 | Exon (13) | 1744..1955 | Exon (14) | 1956..2092 | Exon (15) | 2093..2251 | Exon (16) | 2252..2339 | Exon (17) | 2340..2483 | Exon (18) | 2484..2675 | Exon (19) | 2676..2773 | Exon (20) | 2774..2946 | Exon (21) | 2947..3170 | Exon (22) | 3171..3315 | Exon (23) | 3316..3414 | Exon (24) | 3415..3537 | Exon (25) | 3538..3725 | Exon (26) | 3726..4969 |
| Translation | MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQV
LFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRI
IGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPNKTATCWSLDPDLTNILASSR
SYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTDTGAYWRSWYNSPTFEDDL
EHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPF
PDKPNLDVTSTMLQQGWNATHMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCH
ASAWDFYNRKDFRIKQCTRVTMDQLSTVHHEMGHIQYYLQYKDLPVSLRRGANPGFHEAI
GDVLALSVSTPEHLHKIGLLDRVTNDTESDINYLLKMALEKIAFLPFGYLVDQWRWGVFS
GRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQF
HEALCKEAGYEGPLHQCDIYRSTKAGAKLRKVLQAGSSRPWQEVLKDMVGLDALDAQPLL
KYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGIDLVTDEAEASKFVEEYDRTS
QVVWNEYAEANWNYNTNITTETSKILLQKNMQIANHTLKYGTQARKFDVNQLQNTTIKRI
IKKVQDLERAALPAQELEEYNKILLDMETTYSVATVCHPNGSCLQLEPDLTNVMATSRKY
EDLLWAWEGWRDKAGRAILQFYPKYVELINQAARLNGYVDAGDSWRSMYETPSLEQDLER
LFQELQPLYLNLHAYVRRALHRHYGAQHINLEGPIPAHLLGNMWAQTWSNIYDLVVPFPS
APSMDTTEAMLKQGWTPRRMFKEADDFFTSLGLLPVPPEFWNKSMLEKPTDGREVVCHAS
AWDFYNGKDFRIKQCTTVNLEDLVVAHHEMGHIQYFMQYKDLPVALREGANPGFHEAIGD
VLALSVSTPKHLHSLNLLSSEGGSDEHDINFLMKMALDKIAFIPFSYLVDQWRWRVFDGS
ITKENYNQEWWSLRLKYQGLCPPVPRTQGDFDPGAKFHIPSSVPYIRYFVSFIIQFQFHE
ALCQAAGHTGPLHKCDIYQSKEAGQRLATAMKLGFSRPWPEAMQLITGQPNMSASAMLSY
FKPLLDWLRTENELHGEKLGWPQYNWTPNSARSEGPLPDSGRVSFLGLDLDAQQARVGQW
LLLFLGIALLVATLGLSQRLFSIRHRSLHRHSHGPQFGSEVELRHS
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| Position | Chain | Variation | Link |
| Gene Symbol | ACE |
| Gene Synonym | ACE1; CD143; DCP; DCP1; MGC26566; MVCD3 |
| Chromosome | 17 |
| Locus Map | 17q23.3 |
| All Transcripts | NM_000789 , NM_152830 , NM_001178057 |
| Title | Association of deep venous thrombosis with prothrombotic gene polymorphism identified in lung cancer cases . |
| Author | Arslan,S., Manduz,S., Epozturk,K., Karahan,O. and Akkurt,I. |
| Journal | Mol. Biol. Rep. 38 (4), 2395-2400 (2011) |
| Title | Investigation of association between Angiotensin-converting enzyme gene insertion/deletion polymorphism frequency in Turkish patients with schizophrenia . |
| Author | Baskan,N.M., Basaran,A., Yenilmez,C., Kurt,H., Ozdemir,F., Gunes,H.V. and Degirmenci,I. |
| Journal | Genet Test Mol Biomarkers 14 (6), 753-757 (2010) |
| Title | Angiotensin-converting enzyme (ACE) genotypes and disability in hospitalized older patients . |
| Author | Seripa,D., Paroni,G., Matera,M.G., Gravina,C., Scarcelli,C., Corritore,M., D'Ambrosio,L.P., Urbano,M., D'Onofrio,G., Copetti,M., Kehoe,P.G., Panza,F. and Pilotto,A. |
| Journal | Age (Dordr) (2010) In press |
| Title | Genetic polymorphisms of the renin-angiotensin-aldosterone system in Chinese patients with end-stage renal disease secondary to IgA nephropathy . |
| Author | Huang,H.D., Lin,F.J., Li,X.J., Wang,L.R. and Jiang,G.R. |
| Journal | Chin. Med. J. 123 (22), 3238-3242 (2010) |
| Title | Angiotensin II receptor type 1 1166 A/C and angiotensin converting enzyme I/D gene polymorphisms in a Dutch sarcoidosis cohort . |
| Author | Kruit,A., Ruven,H.J., Grutters,J.C. and van den Bosch,J.M. |
| Journal | Sarcoidosis Vasc Diffuse Lung Dis 27 (2), 147-152 (2010) |
| Title | Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction . |
| Author | Cambien,F., Poirier,O., Lecerf,L., Evans,A., Cambou,J.P., Arveiler,D., Luc,G., Bard,J.M., Bara,L., Ricard,S. et al. |
| Journal | Nature 359 (6396), 641-644 (1992) |
| Title | The two homologous domains of human angiotensin I-converting enzyme interact differently with competitive inhibitors . |
| Author | Wei,L., Clauser,E., Alhenc-Gelas,F. and Corvol,P. |
| Journal | J. Biol. Chem. 267 (19), 13398-13405 (1992) |
| Title | Absence of linkage between the angiotensin converting enzyme locus and human essential hypertension . |
| Author | Jeunemaitre,X., Lifton,R.P., Hunt,S.C., Williams,R.R. and Lalouel,J.M. |
| Journal | Nat. Genet. 1 (1), 72-75 (1992) |
| Title | Angiotensin-converting enzyme: zinc- and inhibitor-binding stoichiometries of the somatic and testis isozymes . |
| Author | Ehlers,M.R. and Riordan,J.F. |
| Journal | Biochemistry 30 (29), 7118-7126 (1991) |
| Title | Purification and characterization of recombinant human testis angiotensin-converting enzyme expressed in Chinese hamster ovary cells . |
| Author | Ehlers,M.R., Chen,Y.N. and Riordan,J.F. |
| Journal | Protein Expr. Purif. 2 (1), 1-9 (1991) |
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