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

    Gene ID: 1636, updated on 13-Apr-2021

    Summary

    Official Symbol
    ACEprovided by HGNC
    Official Full Name
    angiotensin I converting enzymeprovided by HGNC
    Primary source
    HGNC:HGNC:2707
    See related
    Ensembl:ENSG00000159640 MIM:106180
    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; ACE1; DCP1; CD143
    Summary
    This gene encodes an enzyme involved 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. This angiotensin converting enzyme (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 membrane proteins in spermatozoa. 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. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
    Expression
    Biased expression in small intestine (RPKM 118.5), duodenum (RPKM 76.7) and 7 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ACE in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20210226 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (63477061..63498373)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61554422..61575734)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1575 Neighboring gene cytochrome b561 Neighboring gene peptidylprolyl isomerase A pseudogene 55 Neighboring gene angiotensin I converting enzyme 3, pseudogene Neighboring gene potassium voltage-gated channel subfamily H member 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide assessment of variability in human serum metabolism.
    GeneReviews: Not available
    A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.
    GeneReviews: Not available
    An atlas of genetic influences on human blood metabolites.
    GeneReviews: Not available
    Disorder of cardiovascular system
    MedGen: C0007222 GeneReviews: Not available
    Compare labs
    Genetic determinants influencing human serum metabolome among African Americans.
    GeneReviews: Not available
    Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.
    GeneReviews: Not available
    Hemorrhage, intracerebral, susceptibility to
    MedGen: C3281105 OMIM: 614519 GeneReviews: Not available
    Compare labs
    Human metabolic individuality in biomedical and pharmaceutical research.
    GeneReviews: Not available
    Microvascular complications of diabetes 3
    MedGen: C2675470 OMIM: 612624 GeneReviews: Not available
    Compare labs
    Renal dysplasia
    MedGen: C3536714 OMIM: 267430 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC26566

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    exopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metallodipeptidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    metallopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metallopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metallopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 
    peptidyl-dipeptidase activity TAS
    Traceable Author Statement
    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
    amyloid-beta metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    angiotensin maturation 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 
    blood vessel diameter maintenance IC
    Inferred by Curator
    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
     
    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
     
    negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein binding IEA
    Inferred from Electronic Annotation
    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 binding IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of systemic arterial blood pressure IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    posttranscriptional regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    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 HDA PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    angiotensin-converting enzyme
    Names
    CD143 antigen
    angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
    carboxycathepsin
    dipeptidyl carboxypeptidase 1
    dipeptidyl carboxypeptidase I
    kininase II
    peptidase P
    NP_000780.1
    NP_001171528.1
    NP_001369629.1
    NP_001369630.1
    NP_001369631.1
    NP_690043.1
    XP_006721800.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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..26301
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000789.4NP_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/Swiss-Prot
      P12821
      UniProtKB/TrEMBL
      B4DKH4
      Related
      ENSP00000290866.4, ENST00000290866.10
      Conserved Domains (1) summary
      pfam01401
      Location:6431221
      Peptidase_M2; Angiotensin-converting enzyme
    2. NM_001178057.2NP_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
      Related
      ENSP00000392247.3, ENST00000413513.7
      Conserved Domains (1) summary
      pfam01401
      Location:69606
      Peptidase_M2; Angiotensin-converting enzyme
    3. NM_001382700.1NP_001369629.1  angiotensin-converting enzyme isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC113554
    4. NM_001382701.1NP_001369630.1  angiotensin-converting enzyme isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC113554
    5. NM_001382702.1NP_001369631.1  angiotensin-converting enzyme isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC113554
    6. NM_152830.3NP_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
      Related
      ENSP00000290863.6, ENST00000290863.10
      Conserved Domains (1) summary
      pfam01401
      Location:69647
      Peptidase_M2; Angiotensin-converting enzyme

    RNA

    1. NR_168483.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC113554

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      63477061..63498373
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721737.3XP_006721800.2  angiotensin-converting enzyme isoform X1

      Conserved Domains (1) summary
      pfam01401
      Location:89667
      Peptidase_M2; Angiotensin-converting enzyme

    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.
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