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    ACE angiotensin I converting enzyme [ Homo sapiens (human) ]

    Gene ID: 1636, updated on 30-Jun-2015
    Official Symbol
    ACEprovided by HGNC
    Official Full Name
    angiotensin I converting enzymeprovided by HGNC
    Primary source
    HGNC:HGNC:2707
    See related
    Ensembl:ENSG00000159640; HPRD:00108; MIM:106180; Vega:OTTHUMG00000154927
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DCP; ICH; ACE1; DCP1; CD143; MVCD3
    Summary
    This gene encodes an enzyme involved in catalyzing 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. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]
    Orthologs
    Location:
    17q23.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (63477061..63498380)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61554422..61575741)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene cytochrome b561 Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene Neighboring gene angiotensin I converting enzyme (peptidyl-dipeptidase A) 3, pseudogene Neighboring gene potassium channel, voltage gated eag related subfamily H, member 6

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Alzheimer's disease
    MedGen: C0002395 OMIM: 104300 GeneReviews: Alzheimer Disease Overview
    Compare labs
    Disorder of cardiovascular system
    MedGen: C0007222 GeneReviews: Not available
    Compare labs
    Hemorrhage, intracerebral, susceptibility to
    MedGen: C0019191 OMIM: 614519 GeneReviews: Not available
    Compare labs
    Microvascular complications of diabetes 3
    MedGen: C2675470 OMIM: 612624 GeneReviews: Not available
    Compare labs
    Renal dysplasia
    MedGen: C0266313 OMIM: 267430 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide assessment of variability in human serum metabolism.
    NHGRI GWA Catalog
    A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.
    NHGRI GWA Catalog
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genetic determinants influencing human serum metabolome among African Americans.
    NHGRI GWA Catalog
    Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.
    NHGRI GWA Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160-derived peptide p18 presented by H-2Dd class I major histocompatibility complex molecules is processed by angiotensin-1 converting enzyme (ACE) prior to T cell stimulation by the peptide p18 PubMed

    Go to the HIV-1, Human Interaction Database

    • ACE Inhibitor Pathway, organism-specific biosystem (from WikiPathways)
      ACE Inhibitor Pathway, organism-specific biosystemThe core of this pathway was elucidated over a century ago and involves the conversion of angiotensinogen to angiotensin I (Ang I) by renin, its subsequent conversion to angiotensin II (Ang II) by an...
    • Chagas disease (American trypanosomiasis), organism-specific biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), organism-specific biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Chagas disease (American trypanosomiasis), conserved biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), conserved biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Metabolism of Angiotensinogen to Angiotensins, organism-specific biosystem (from REACTOME)
      Metabolism of Angiotensinogen to Angiotensins, organism-specific biosystemAngiotensinogen, a prohormone, is synthesized and secreted mainly by the liver but also from other tissues (reviewed in Fyhrquist and Saijonmaa 2008, Cat and Touyz 2011). Renin, an aspartyl protease ...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
      Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
    • Renin-angiotensin system, organism-specific biosystem (from KEGG)
      Renin-angiotensin system, organism-specific biosystem
      Renin-angiotensin system
    • Renin-angiotensin system, conserved biosystem (from KEGG)
      Renin-angiotensin system, conserved biosystem
      Renin-angiotensin system
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC26566

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bradykinin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    carboxypeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    chloride ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    exopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metallopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitogen-activated protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    mitogen-activated protein kinase kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    peptidyl-dipeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-dipeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    tripeptidyl-peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    angiotensin catabolic process in blood IC
    Inferred by Curator
    more info
    PubMed 
    angiotensin maturation TAS
    Traceable Author Statement
    more info
     
    antigen processing and presentation of peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
    PubMed 
    arachidonic acid secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-amyloid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    blood vessel remodeling IC
    Inferred by Curator
    more info
    PubMed 
    cell proliferation in bone marrow ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hematopoietic stem cell differentiation IC
    Inferred by Curator
    more info
    PubMed 
    hormone catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hormone catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mononuclear cell proliferation IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of gap junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neutrophil mediated immunity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peptide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of peptidyl-cysteine S-nitrosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of peptidyl-tyrosine autophosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of angiotensin metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of hematopoietic stem cell proliferation IC
    Inferred by Curator
    more info
    PubMed 
    regulation of hematopoietic stem cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of renal output by angiotensin IC
    Inferred by Curator
    more info
    PubMed 
    regulation of smooth muscle cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of systemic arterial blood pressure by renin-angiotensin IC
    Inferred by Curator
    more info
    PubMed 
    regulation of systemic arterial blood pressure by renin-angiotensin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of vasoconstriction IC
    Inferred by Curator
    more info
    PubMed 
    regulation of vasodilation IC
    Inferred by Curator
    more info
    PubMed 
    spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    angiotensin-converting enzyme
    Names
    CD143 antigen
    angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
    angiotensin I converting enzyme peptidyl-dipeptidase A 1 transcript
    angiotensin converting enzyme, somatic isoform
    carboxycathepsin
    dipeptidyl carboxypeptidase 1
    dipeptidyl carboxypeptidase I
    kininase II
    peptidase P
    testicular ECA
    NP_000780.1
    NP_001171528.1
    NP_690043.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011648.1 RefSeqGene

      Range
      4989..26308
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000789.3NP_000780.1  angiotensin-converting enzyme isoform 1 precursor

      See identical proteins and their annotated locations for NP_000780.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as the endothelial or somatic form, represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB208971, AC113554, AK296566
      Consensus CDS
      CCDS11637.1
      UniProtKB/TrEMBL
      B4DKH4
      UniProtKB/Swiss-Prot
      P12821
      Related
      ENSP00000290866, OTTHUMP00000206956, ENST00000290866, OTTHUMT00000337675
      Conserved Domains (1) summary
      cd06461
      Location:6521212
      M2_ACE; Peptidase family M2 Angiotensin converting enzyme (ACE)
    2. NM_001178057.1NP_001171528.1  angiotensin-converting enzyme isoform 3 precursor

      See identical proteins and their annotated locations for NP_001171528.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple 5' exons and an in-frame exon in the 3' region, but has an alternate 5' exon, compared to variant 1. The resulting isoform (3) is shorter, and has a distinct N-terminus and lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AB208971, AC113554, AK301988, BM908222, M26657
      Consensus CDS
      CCDS54155.1
      UniProtKB/Swiss-Prot
      P12821
      Conserved Domains (1) summary
      cd06461
      Location:78597
      M2_ACE; Peptidase family M2 Angiotensin converting enzyme (ACE)
    3. NM_152830.2NP_690043.1  angiotensin-converting enzyme isoform 2 precursor

      See identical proteins and their annotated locations for NP_690043.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as the testicular form, lacks multiple 5' exons, but has an alternate 5' exon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB208971, AC113554, BM908222, M26657
      Consensus CDS
      CCDS45755.1
      UniProtKB/Swiss-Prot
      P12821
      Conserved Domains (1) summary
      cd06461
      Location:78638
      M2_ACE; Peptidase family M2 Angiotensin converting enzyme (ACE)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

      Range
      63477061..63498380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257110.1XP_005257167.1  

      Conserved Domains (1) summary
      cd06461
      Location:4691029
      M2_ACE; Peptidase family M2 Angiotensin converting enzyme (ACE)
    2. XM_006721737.2XP_006721800.2  

      Conserved Domains (1) summary
      cd06461
      Location:98658
      M2_ACE; Peptidase family M2 Angiotensin converting enzyme (ACE)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      61618550..61639869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152831.1: Suppressed sequence

      Description
      NM_152831.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.