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FLASH GENE
Symbol ACE contributors: mct/npt - updated : 24-09-2016
HGNC name angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
HGNC id 2707
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • signal peptide of 29 AA, hydrophobic sequence near the C terminus
  • two large homologous domains (called here the N and C domains), each being a zinc-dependent dipeptidyl carboxypeptidase (Wei 1992)
  • isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine Ace
    Homologene
    FAMILY
  • peptidase M2 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • dipeptyl carboxypeptidase 1 (angiotensin I converting enzyme), involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II
  • significant role for ACE in myelopoiesis
  • intrarenal ACE and ACE2 may play an important role in the pathogenesis and progression of hypertensive nephrosclerosis (HTN)
  • displays a key role on its own downregulation in response to shear-stress (SS)
  • cell-surface marker of adult human hematopoietic stem cells, but is already expressed in all presumptive and developing blood-forming tissues of the human embryo and fetus
  • is involved in the regulation of human blood formation
  • zinc dependent peptidase with a major role in regulating vasoactive peptide metabolism
  • key regulator of blood pressure as a result of its critical role in the renin-angiotensin-aldosterone and kallikrein-kinin systems
  • ACE metabolism plays a fundamental role in the responses of the kidney to hypertensive stimuli, and renal ACE activity is required to increase local AGT, to stimulate sodium transport in loop of Henle and the distal nephron, and to induce hypertension
  • key regulator of blood pressure and electrolyte fluid homeostasis, cleaves the vasoactive angiotensin-I, bradykinin, and a number of other physiologically relevant peptides
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text circulatory homeostasis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+ ion
  • protein
  • interacting with ADD1 not only on blood pressure regulation but also on the progression of renal dysfunction in patients with IgA nephropathy
  • spatial proximity between ACE and the endogenous CPM enables an ACE-evoked release of CPM
  • requirement for ADAM9 in lipopolysaccharide induced ACE shedding
  • bacterial LPS can induce shedding of ACE from endothelial cells that is dependent on ADAM9
  • XRN1 directly interacts with EDC4 and ACE
  • existence of TEX101 on spermatozoa was regulated by angiotensin-converting enzyme (ACE)
  • APELA-APLNR axis protects from pressure overload-induced heart failure possibly via suppression of ACE expression and pathogenic angiotensin II signalling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DCP1 , RTD2
    Susceptibility
  • to Alzheimer disease
  • to the development of microvascular wall in non diabetic renal diseases, and IDDM nephropathy with risk for chronic renal failure
  • to age-related essential hypertension with increased basal nitric oxide activity and once environmental factors
  • to ruptured intracranial aneurysms in hypertension
  • to left ventricular hypertrophy (Caucasians), cardiomyopathy, myocardial infarction
  • to subacute sclerosing panencephalitis (SSPE)
  • to cerebral infarction in Han Chinese population
  • to development of diabetic peripheral neuropathy in type 2 diabetes mellitus
  • to hypertrophic cardiomyopathy (HCM)
  • Variant & Polymorphism SNP , insertion/deletion , other
  • two SNPs associated with circulating ACE concentration and affecting blood pressure (young onset hypertension)
  • allele II increased in endurance athletes
  • allele DD increasing thre risk of subacute sclerosing panencephalitis (SSPE)
  • DD genotype may be a risk factor for cerebral infarction in Han Chinese population (Tao 2009)
  • II genotype of the ACE gene has a protective effect against the development of diabetic peripheral neuropathy in type 2 diabetes mellitus
  • ACE I/D polymorphism might be associated with the risk of HCM
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneoushypertension 
    key therapeutic target for combating hypertension and related cardiovascular diseases
    ANIMAL & CELL MODELS
  • renin-angiotensin system is altered in ob/ob mice, with markedly reduced Ace activity, which suggests a possible connection between the renin-angiotensin system and leptin
  • an enhanced immune response, coupled with increased myelomonocytic expression of catalytically active ACE, prevents cognitive decline in a murine model of Alzheimer disease