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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]
ACE (Angiotensin I Converting Enzyme) is a Protein Coding gene. Diseases associated with ACE include Microvascular Complications Of Diabetes 3 and Renal Tubular Dysgenesis. Among its related pathways are Transcription_CREM signaling in testis and Peptide hormone metabolism. Gene Ontology (GO) annotations related to this gene include actin binding and drug binding. An important paralog of this gene is ENSG00000264813.
Angiotensin-converting enzyme (ACE, aka peptidyl dipeptidase A, carboxycathepsin) cleaves a C-terminal dipeptide from angiotensin I to create the vasoconstrictor peptide, angiotensin II. ACE can also inactivate the vasodilator, proinflammatory peptide, bradykinin.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004175 | endopeptidase activity | IDA | 15283675 |
GO:0004180 | carboxypeptidase activity | IEA | -- |
GO:0008144 | drug binding | IDA | 1320019 |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008237 | metallopeptidase activity | IEA,TAS | 2554286 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA,IDA | 1668266 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005764 | lysosome | IDA | 11076943 |
GO:0005768 | endosome | IDA | 17077303 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics | ||
2 | Peptide hormone metabolism | ||
3 | Toll-like Receptor Signaling Pathway | ||
4 | Dilated cardiomyopathy (DCM) | ||
5 | Renin secretion |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001822 | kidney development | IMP | 16116425 |
GO:0001974 | blood vessel remodeling | IC | 1668266 |
GO:0002003 | angiotensin maturation | IC,TAS | -- |
GO:0002019 | regulation of renal output by angiotensin | IC | 1668266 |
GO:0002446 | neutrophil mediated immunity | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Captopril | Approved | Pharma | Inhibitor, Inhibition, Target, inhibitor | ACE inhibitor, ACE inhibitor; also inhibits LTA4 hydrolase | 50 | |
Perindopril | Approved | Pharma | Target, inhibitor | ACE inhibitor, Angiotensin-converting enzyme (ACE) inhibitor | 64 | |
Ramipril | Approved | Pharma | Target, inhibitor | 169 | ||
Lisinopril | Approved, Investigational | Pharma | Target, inhibitor | ACE inhibitor | 131 | |
Benazepril | Approved, Investigational | Pharma | Target, inhibitor | 49 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Benazepril hydrochloride |
|
86541-74-4 |
|
|
||
Moexipril hydrochloride |
|
82586-52-5 |
|
|
Compound | Action | Cas Number |
---|---|---|
Benazepril hydrochloride | Angiotensin-converting enzyme (ACE) inhibitor | 86541-74-4 |
Captopril | ACE inhibitor; also inhibits LTA4 hydrolase | 62571-86-2 |
Moexipril hydrochloride | Angiotensin-converting enzyme (ACE) inhibitor | 82586-52-5 |
Perindopril erbumine | Angiotensin-converting enzyme (ACE) inhibitor | 107133-36-8 |
Spinorphin | Enkephalin-degrading and ACE inhibitor | 137201-62-8 |
Compound | Action | Cas Number |
---|---|---|
Acetyl Angiotensinogen (1-14), porcine | Angiotensinogen precursor | 66641-26-7 |
Angiotensin (1-7) | Vasoconstriction peptide hormone | 51833-78-4 |
Angiotensin 1/2 (1-5) | Vasoconstrictor | 58442-64-1 |
Angiotensin 1/2 (1-6) | Vasoconstrictor | 47896-63-9 |
Angiotensin 1/2 (1-9) | Vasoconstrictor | 34273-12-6 |
Angiotensin 1/2 + A (2 - 8) | 51833-76-2 | |
Angiotensin I (human, mouse, rat) | Precursor of angiotensin II | 484-42-4 |
Angiotensin II | Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. | 68521-88-0 |
Angiotensin III (human, mouse) | Aldosterone stimulator | 13602-53-4 |
Benazepril HCl | 86541-74-4 | |
Butein | Protein kinase inhibitor | 487-52-5 |
Captopril | ACE inhibitor | 62571-86-2 |
Cilazapril | ACE inhibitor | 88768-40-5 |
Cilazapril Monohydrate | 92077-78-6 | |
Enalapril Maleate | 76095-16-4 | |
Enalaprilat Dihydrate | 84680-54-6 | |
Fosinopril sodium | ACE inhibitor | 88889-14-9 |
Imidapril HCl | 89396-94-1 | |
Indapamide | 26807-65-8 | |
Lisinopril dihydrate | ACE inhibitor | 83915-83-7 |
Moexipril HCl | ACE inhibitor | 82586-52-5 |
Olmesartan | 144689-24-7 | |
Perindopril | ACE inhibitor | 82834-16-0 |
Perindopril Erbumine | ACE inhibitor | 107133-36-8 |
Quinapril HCl | 82586-55-8 | |
Ramipril | 87333-19-5 | |
Spinorphin | P2X3 receptors against | 137201-62-8 |
Temocapril HCl | 110221-44-8 | |
Trandolapril | 87679-37-6 | |
Zofenopril calcium | 81938-43-4 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | · | 15d | ^ | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: |
ExUns: | 19a | · | 19b | · | 19c | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||||||||
SP14: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ACE 30 |
|
||
Dog (Canis familiaris) |
Mammalia | LOC610668 30 |
|
||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | ACE 30 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Ace 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Ace 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | ACE 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ace 30 |
|
||
Str.5776 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | ace 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | ANCE9 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Ance 31 32 |
|
ManyToMany | |
Acer 31 32 |
|
ManyToMany | |||
Ance-3 31 32 |
|
ManyToMany | |||
Ance-5 32 |
|
|
|||
Ance-2 32 |
|
|
|||
Ance-4 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | acn-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708841 | Likely Benign: Renal dysplasia; not provided | 63,488,734(+) | A/G | MISSENSE_VARIANT | |
711660 | Likely Benign: not provided | 63,479,804(+) | G/A | MISSENSE_VARIANT | |
713533 | Likely Benign: not provided | 63,481,677(+) | G/A | MISSENSE_VARIANT | |
718371 | Conflicting Interpretations: Renal dysplasia; not provided | 63,493,655(+) | C/T | SYNONYMOUS_VARIANT | |
728916 | Likely Benign: not provided | 63,496,923(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
microvascular complications of diabetes 3 |
|
|
renal tubular dysgenesis |
|
|
hemorrhage, intracerebral |
|
|
renal dysplasia |
|
|
cardiovascular system disease |
|