Human Gene ACE (uc002jav.2)
Description: Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 2, mRNA.
RefSeq Summary (NM_152830): This gene encodes an enzyme involved in in blood pressure regulation and electrolyte balance. It catalyzes 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. ACE also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored proteins in testes. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2020].
Transcript (Including UTRs)
Position: hg19 chr17:61,562,178-61,575,741 Size: 13,564 Total Exon Count: 14 Strand: +
Coding Region
Position: hg19 chr17:61,562,229-61,574,727 Size: 12,499 Coding Exon Count: 14
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ACE
CDC HuGE Published Literature: ACE
Positive Disease Associations: ACE activity
, ACEI-related cough
, affective disorder
, Age-associated memory impairment
, albuminuria hypertension
, alcoholism
, alcoholism; renal disease, end stage
, Alzheimer's Disease
, anemia C-reactive protein
, Angiotensin-converting enzyme activity
, angiotensin-converting enzyme genotype
, angiotensin-converting enzyme inhibitor-related cough
, angiotensin-converting enzyme inhibitors
, antiproteinuric effect of angiotensin I-converting enzyme inhibitors
, Aortic atherosclerosis in diabetes mellitus
, ARDS
, asthma
, atherosclerosis
, atherosclerosis, coronary
, athletic performance
, atrial fibrillation
, atrial natriuretic peptide activity after exercise
, Bipolar Affective Disorder
, bleeding complications
, Blood Pressure
, blood pressure, arterial
, blood pressure, arterial; arterial wall changes
, cardiac death
, cardiomyopathy
, cardiovascular
, cardiovascular disease
, cardiovascular risk factors
, carotid and femoral artery stiffness
, carotid arterial wall thickness
, carotid atherosclerosis
, carotid wall thickening
, cerebral atherosclerosis
, chronic obstructive pulmonary disease
, chronic obstructive pulmonary disease/COPD
, Cicatrix|Hydronephrosis|Kidney Diseases|Vesico-Ureteral Reflux|Vesicoureteral reflux
, circulating levels of plasminogen activator inhibitor-1
, cognitive impairment
, congenital anomalies; renal disease
, COPD
, coronary artery disease
, coronary artery disease and myocardial infarction
, coronary artery plaque calcification
, coronary atherosclerosis
, coronary heart disease
, coronary heart disease in non-insulin-dependent diabetic
, cough
, creatinine; protein excretion, urinary
, diabetes, type 1
, diabetes, type 2
, diabetes, type 2; hypertension
, diabetes, type 2; nephropathy
, diabetes, type 2; polymetabolic syndrome
, diabetic nephropathy
, diabetic nephropathy and retinopathy.
, early onset ischemic heart disease.
, early onset of ESRF in PKD1 adult polycystic kidney disease
, elevated ACE
, elevated fasting blood glucose levels
, End- Stage Renal Disease (ESRD)
, endothelial dysfunction in normal humans.
, endurance performance
, esophageal varices
, Essential Hypertension
, Exercise-induced changes in insulin
, failure of renoprotective therapy
, Fatigue Syndrome, Chronic
, Gaucher disease
, heart disease
, heart failure
, heart rate variability
, higher blood pressure after hospitalization in normotensi
, hypertension
, hypertension, pregnancy induced
, IgA nephropathy
, increased vascular reactivity
, insulin left ventricular mass
, insulin resistance
, insulin sensitivity
, ischemia
, kidney failure, chronic
, kidney transplant
, left ventricular hypertrophy
, left ventricular mass
, leukoaraiosis
, lipid metabolism
, lipid profiles
, longevity
, Lupus
, lupus erythematosus; nephropathy in other diseases
, malignant vascular injury
, metabolic syndrome
, Metabolism
, muscle testing
, myocardial infarct
, myocardial infarct; diabetes, type 2
, myocardial infarction
, myocardial ischemia
, myotonic dystrophy
, nephroangiosclerosis
, nephropathy
, nephropathy, diabetic
, non-ST-elevation acute coronary syndromes
, obesity; blood pressure, arterial; sleep apnea
, obstetric cholestasis
, Parkinson's disease
, plasma antigen levels of plasminogen activator inhibitor-1
, PMV after CABG
, polycystic kidney disease
, polydipsia
, postprandial hyperglycaemia
, posttransplantation erythrocytosis
, preeclampsia
, pregnancy loss, recurrent
, progressive renal damage
, proliferative diabetic retinopathy
, reflux nephropathy
, renal disease, end stage
, restenosis
, ruptured intracranial aneurysms
, sarcoidosis
, sarcoidosis.
, schizophrenia
, serum ACE concentration and CAD
, stroke
, stroke, ischemic
, suicide
, Systemic Lupus Erythematosus (SLE)
, Systemic Sclerosis
, the extent of exercise-induced left ventricular growth in endurance athletes
, thromboembolism
, Tobacco Use Disorder
, Type 2 diabetes
, Type 2 Diabetes Mellitus
, Vascular Disease
Related Studies: ACE activity Kong, X. D. et al. 2004, [ACE gene polymorphisms associated with serum ACE activity in the Henan Hans of China], Yi chuan xue bao. 2004 Nov;31(11):1196-202.
[PubMed 15651670 ]
This findings suggested that serum ACE levels were partially determined by genetic predisposition (the polymorphism of ACE gene). Haplotype B may be related to the quantitative trait loci of high-level activity,whereas high-resolution genetic mapping linked with ACE was still necessary to characterize definitely the functional variants.
ACEI-related cough Yau-Jiunn Lee 2001, Angiotensin-converting enzyme gene insertion/deletion, not bradykinin B2 receptor -58T/C gene polymorphism, associated with angiotensin-converting enzyme inhibitor-related cough in Chinese female patients with non-insulin-dependent diabetes mellitus., Metabolism: clinical and experimental. 2001 Nov;50(11):1346-50.
[PubMed 11699055 ]
In conclusion, our results indicate that Chinese diabetic female subjects are susceptible to ACEI-related cough, and this susceptibility may be genetically predetermined.
affective disorder Arinami T et al. 1996, An insertion/deletion polymorphism in the angiotensin converting enzyme gene is associated with both brain substance P contents and affective disorders., Biological psychiatry. 1996 Dec;40(11):1122-7.
[PubMed 8931914 ]
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MalaCards Disease Associations
MalaCards Gene Search: ACE
Diseases sorted by gene-association score: renal tubular dysgenesis * (643), myocardial infarction * (615), microvascular complications of diabetes 3 * (605), hemorrhage, intracerebral * (332), renal dysplasia * (179), renal tubular dysgenesis, ace-related * (100), cardiovascular disease risk factor ) * (45), anuria (33), nephrosclerosis (33), hypertensive heart disease (32), congestive heart failure (28), diastolic heart failure (26), renovascular hypertension (25), pulmonary edema (24), coronary restenosis (23), malignant hypertension (22), acute myocardial infarction (22), hypertensive retinopathy (22), coronary artery disease (20), cerebrovascular disease (19), hypersensitivity reaction type iv disease (19), acute mountain sickness (19), stroke, ischemic (18), systolic heart failure (18), neurosarcoidosis (18), vascular disease (18), moderate and severe traumatic brain injury (18), aortic coarctation (18), mesangioproliferative glomerulopathy (18), hepatoportal sclerosis (18), pediatric hypertension (17), peripheral artery disease (17), renal artery disease (17), heart disease (17), sarcoidosis 1 (16), skin sarcoidosis (16), alcoholic cardiomyopathy (15), kidney disease (15), angioedema (15), generalized atherosclerosis (15), uveoparotid fever (15), renal hypertension (14), diabetic neuropathy (14), pneumoconiosis due to talc (14), kaolin pneumoconiosis (14), mitral valve disease (14), end stage renal failure (13), systemic scleroderma (13), hyporeninemic hypoaldosteronism (13), hypertension, diastolic (13), autosomal dominant polycystic kidney disease (13), kanzaki disease (13), marek disease (12), peripheral vascular disease (12), oligohydramnios (12), ischemia (11), ischemic heart disease (11), angina pectoris (11), posterior urethral valves (11), intermittent claudication (11), interstitial nephritis (10), coronary stenosis (10), hypoaldosteronism (10), hypokalemia (10), nonarteritic anterior ischemic optic neuropathy (10), cerebral sarcoidosis (10), hyperaldosteronism (10), diabetes mellitus, insulin-dependent (10), loeffler syndrome (9), ischemic optic neuropathy (9), subacute cutaneous lupus erythematosus (9), hereditary angioedema (9), familial vesicoureteral reflux (9), granulomatous dermatitis (9), dilated cardiomyopathy (9), adult respiratory distress syndrome (9), cerebral atherosclerosis (9), vasculogenic impotence (9), rheumatic heart disease (8), renal artery obstruction (8), chronic kidney failure (8), microvascular complications of diabetes 5 (8), iga glomerulonephritis (8), mcardle disease (8), arterial calcification of infancy (8), fibromuscular dysplasia (8), atrial fibrillation (8), atrial septal defect 4 (8), acute anterolateral myocardial infarction (8), hypertensive encephalopathy (8), aortic atherosclerosis (8), syndrome of inappropriate antidiuretic hormone (7), aortic valve disease 1 (7), pseudohyperkalemia, familial, 2, due to red cell leak (7), anthracosilicosis (7), carotid artery disease (7), hepatorenal syndrome (7), urinary system disease (7), pulmonary sarcoidosis (7), obstructive sleep apnea (7), sleep apnea (7), idiopathic edema (7), vesicoureteral reflux (7), mitral valve insufficiency (7), tropical calcific pancreatitis (7), angiokeratoma of fordyce (7), silicosis (7), arteritic anterior ischemic optic neuropathy (7), ischemic colitis (7), hypertensive nephropathy (6), pure autonomic failure (6), limb ischemia (6), glucose metabolism disease (6), patella, chondromalacia of (6), cardiac arrest (6), carotid stenosis (6), hypertension, essential (6), fiedler's myocarditis (6), migraine with aura (6), membranous nephropathy (6), acquired metabolic disease (6), heart conduction disease (6), vascular dementia (6), pyelonephritis (6), optic nerve sheath meningioma (6), intermediate coronary syndrome (6), orthostatic proteinuria (6), neuroretinitis (5), aortic valve insufficiency (5), extrinsic cardiomyopathy (5), diabetes mellitus, noninsulin-dependent (5), sexual disorder (5), granulomatous hepatitis (5), subdural empyema (4), optic nerve neoplasm (4), multiple cranial nerve palsy (4), focal segmental glomerulosclerosis (4), follicular mucinosis (4), ureteral disease (4), artery disease (4), malignant essential hypertension (4), granulomatous angiitis (4), pulmonary hypertension (4), aortic valve disease 2 (4), cardiomyopathy (3), respiratory failure (3), lipid metabolism disorder (3), arteriosclerosis (3), connective tissue disease (2), mood disorder (2), intrinsic cardiomyopathy (2), hypersensitivity reaction disease (1), immune system disease (1), respiratory system disease (1), cardiomyopathy, familial hypertrophic (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF01401 - Angiotensin-converting enzyme
SCOP Domains: 55486 - Metalloproteases ("zincins"), catalytic domain
ModBase Predicted Comparative 3D Structure on P12821-3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AK309514 - Homo sapiens cDNA, FLJ99555.JQ927553 - Homo sapiens isolate 11E1492 angiotensin I converting enzyme peptidyl-dipeptidase A 1 transcript variant (ACE) mRNA, complete cds, alternatively spliced.AB208971 - Homo sapiens mRNA for angiotensin I converting enzyme isoform 1 precursor variant protein.J04144 - Human angiotensin I-converting enzyme mRNA, complete cds.HW061214 - JP 2012529430-A/89: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.JB252022 - Sequence 89 from Patent EP2440214.LP764921 - Sequence 89 from Patent EP3276004.HW061213 - JP 2012529430-A/88: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.JB252021 - Sequence 88 from Patent EP2440214.LP764920 - Sequence 88 from Patent EP3276004.JD092685 - Sequence 73709 from Patent EP1572962.BC036375 - Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1, mRNA (cDNA clone MGC:26566 IMAGE:4826875), complete cds.X16295 - Human mRNA for angiotensin I converting enzyme (ACE).JD372802 - Sequence 353826 from Patent EP1572962.AK302019 - Homo sapiens cDNA FLJ53482 complete cds, moderately similar to Angiotensin-converting enzyme, somatic isoform precursor (EC 3.4.15.1).AK301988 - Homo sapiens cDNA FLJ61451 complete cds, highly similar to Angiotensin-converting enzyme, testis-specific isoform precursor (EC 3.4.15.1).M26657 - Human testicular angiotensin converting enzyme mRNA, complete cds.M29981 - Human aberrantly spliced angiotensin converting enzyme mRNA, complete cds.JD255267 - Sequence 236291 from Patent EP1572962.M26658 - Human testicular angiotensin converting enzyme mRNA (5' variant), complete cds.JD277476 - Sequence 258500 from Patent EP1572962.JD338596 - Sequence 319620 from Patent EP1572962.JD422743 - Sequence 403767 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04614 - Renin-angiotensin systemhsa05142 - Chagas diseasehsa05410 - Hypertrophic cardiomyopathy (HCM)
BioCarta from NCI Cancer Genome Anatomy Project h_ace2Pathway - Angiotensin-converting enzyme 2 regulates heart function
Reactome (by CSHL, EBI, and GO) Protein P12821 (Reactome details) participates in the following event(s):R-HSA-2022398 ACE hydrolyzes Angiotensin-(1-9) to Angiotensin-(1-7)
R-HSA-2022405 ACE hydrolyzes Angiotensin-(1-10) to Angiotensin-(1-8)
R-HSA-2065355 Secreted ACE hydrolyzes Angiotensin-(1-10) to Angiotensin-(1-8)
R-HSA-2022377 Metabolism of Angiotensinogen to Angiotensins
R-HSA-2980736 Peptide hormone metabolism
R-HSA-392499 Metabolism of proteins
Other Names for This Gene
Alternate Gene Symbols: DCP, DCP1, NM_152830, NP_690043, P12821-3UCSC ID: uc002jav.2RefSeq Accession: NM_152830
Protein: P12821-3 , splice isoform of P12821
CCDS: CCDS45755.1
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_152830.2
exon count:
14 CDS single in 3' UTR:
no
RNA size:
3264
ORF size:
2199 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
4598.00 frame shift in genome:
no
% Coverage:
100.00
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.