Human Gene ACE2 (uc004cxa.1) Description and Page Index
Description: Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA. RefSeq Summary (NM_021804): The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. The organ- and cell-specific expression of this gene suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronavirus HCoV-NL63 and the human severe acute respiratory syndrome coronaviruses, SARS-CoV and SARS-CoV-2 (COVID-19 virus). [provided by RefSeq, Mar 2020]. Transcript (Including UTRs) Position: hg19 chrX:15,579,156-15,619,202 Size: 40,047 Total Exon Count: 18 Strand: - Coding Region Position: hg19 chrX:15,580,028-15,619,034 Size: 39,007 Coding Exon Count: 18
ID:ACE2_HUMAN DESCRIPTION: RecName: Full=Angiotensin-converting enzyme 2; EC=188.8.131.52; AltName: Full=ACE-related carboxypeptidase; AltName: Full=Angiotensin-converting enzyme homolog; Short=ACEH; AltName: Full=Metalloprotease MPROT15; Contains: RecName: Full=Processed angiotensin-converting enzyme 2; Flags: Precursor; FUNCTION: Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, and angiotensin II to angiotensin 1-7, a vasodilator. Also able to hydrolyze apelin- 13 and dynorphin-13 with high efficiency. May be an important regulator of heart function. In case of human coronaviruses SARS and HCoV-NL63 infections, serve as functional receptor for the spike glycoprotein of both coronaviruses. CATALYTIC ACTIVITY: Angiotensin II + H(2)O = angiotensin-(1-7) + L-phenylalanine. COFACTOR: Binds 1 zinc ion per subunit. COFACTOR: Binds 1 chloride ion per subunit. ENZYME REGULATION: Activated by chloride and fluoride, but not bromide. Inhibited by MLN-4760, cFP_Leu, and EDTA, but not by the ACE inhibitors linosipril, captopril and enalaprilat. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=6.9 uM for angiotensin I; KM=2 uM for angiotensin II; KM=6.8 uM for apelin-13; KM=5.5 uM for dynorphin-13; pH dependence: Optimum pH is 6.5 in the presence of 1 M NaCl. Active from pH 6 to 9; SUBUNIT: Interacts with ITGB1. Interacts with SARS-CoV and HCoV- NL63 spike glycoprotein. SUBCELLULAR LOCATION: Processed angiotensin-converting enzyme 2: Secreted. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. INDUCTION: Up-regulated in failing heart. PTM: N-glycosylation on Asn-90 may limit SARS infectivity. PTM: Proteolytic cleavage by ADAM17 generates a secreted form. SIMILARITY: Belongs to the peptidase M2 family. WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ace2/";
Genetic Association Studies of Complex Diseases and Disorders
Acute Coronary Syndrome Barry R Palmer , et al. American heart journal 2008 156(4):752-8, Angiotensin-converting enzyme 2 A1075G polymorphism is associated with survival in an acute coronary syndromes cohort., American heart journal 2008 156(4):752-8.
blood pressure, arterial Zhong, J. et al. 2006, Association of angiotensin-converting enzyme 2 gene A/G polymorphism and elevated blood pressure in Chinese patients with metabolic syndrome, J Lab Clin Med 2006 147(2) 91-5.
hypertension Yi, L. et al. 2006, Association of ACE, ACE2 and UTS2 polymorphisms with essential hypertension in Han and Dongxiang populations from north-western China, J Int Med Res 2006 34(3) 272-83.
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.
ModBase Predicted Comparative 3D Structure on Q9BYF1
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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.