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FLASH GENE
Symbol ACE contributors: mct/npt - updated : 24-09-2014
HGNC name angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
HGNC id 2707
Corresponding disease
DCP1 left ventricular hypertrophy (Caucasians), cardiomyopathy, myocardial infarction
RTD2 renal tubular dysgenesis 2
Location 17q23.3      Physical location : 61.554.433 - 61.575.739
Synonym name
  • peptidyl-dipeptidase A kininase 2
  • CD143 antigen
  • kininase II
  • testicular ECA
  • dipeptidyl carboxypeptidase 1
  • peptidase P
  • CD143 antigen
  • carboxycathepsin
  • Synonym symbol(s) CD143, DCP, DCP1, ACE1
    EC.number 3.4.15.1, 3.2.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 21.32 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    motif repetitive sequence   ALU
    text structure
  • promoter containing an insertion with a cyclophilin A processed pseudogene
  • Alu sequence in ACE gene possesses a regulatory function on the ACE promoter activity in neuron
  • MAPPING cloned Y linked Y status confirmed
    Physical map
    DKFZP564D166 17q24.1 putative ankyrin-repeat containing protein CYB561 17q11-qter cytochrome b-561 LOC342541 17q24.1 similar to peptidyl-Pro cis trans isomerase ACE 17q23 angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 KCNH6 17q24.2 potassium voltage-gated channel, subfamily H (eag-related), member 6 HAN11 17q24.2 WD-repeat protein LOC51204 17q24.2 clone HQ0477 PRO0477p LOC390806 17 similar to Hypothetical protein FLJ14668 MAP3K3 17q24.2 mitogen-activated protein kinase kinase kinase 3 MGC10986 17q24.2 hypothetical protein MGC10986 LYK5 17q24.2 protein kinase LYK5 GK001 17q24.2 GK001 protein DDX42 17q24.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 FTSJ3 17q23 FtsJ homolog 3 (E. coli) PSMC5 17q24-q25 proteasome (prosome, macropain) 26S subunit, ATPase, 5 SMARCD2 17q23-q24 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 LOC388410 17 LOC388410 CSH2 17q23.3-q24.2 chorionic somatomammotropin hormone 2 GH2 17q23 growth hormone 2 CSH1 17q23.3-q24.2 chorionic somatomammotropin hormone 1 (placental lactogen)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 4965 143 1306 - 1998 9886893
    14 splicing 3264 83.3 732 testis 1998 9886893
         - 732 - 1998 9886893
    13 - 3141 - 691 testis, spermatocytes 1998 9886893
    androgen,dependent,unknown function
    - splicing 4200 - 1306 vascular endothelial and renal epithelial cells, testicular leydig cells 1998 9886893
    - splicing 2490 - 694 only in sperm 1998 9886893
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Nervousbrain   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
  • 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)
  • 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