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

    Gene ID: 1636, updated on 30-Apr-2024

    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; AllianceGenome:HGNC:2707
    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
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    17q23.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63477061..63498373)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64347269..64368872)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61554422..61575734)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:61512442-61512609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61513919-61514833 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61514834-61515748 Neighboring gene cytochrome b561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61524253-61525066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61525067-61525879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61528047-61528547 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61533342-61534200 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61534201-61535059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8818 Neighboring gene peptidylprolyl isomerase A pseudogene 55 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61563854-61564354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12546 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:61594037-61595236 Neighboring gene angiotensin I converting enzyme 3, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61611272-61611775 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
    Disorder of cardiovascular system
    MedGen: C0007222 GeneReviews: Not available
    Compare labs
    Hemorrhage, intracerebral, susceptibility to
    MedGen: C3281105 OMIM: 614519 GeneReviews: Not available
    Compare labs
    Microvascular complications of diabetes, susceptibility to, 3
    MedGen: C2675470 OMIM: 612624 GeneReviews: Not available
    Compare labs
    Renal tubular dysgenesis of genetic origin
    MedGen: C5681536 OMIM: 267430 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide assessment of variability in human serum metabolism.
    EBI GWAS Catalog
    A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genetic determinants influencing human serum metabolome among African Americans.
    EBI GWAS 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.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog

    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

    Clone Names

    • MGC26566

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables bradykinin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables carboxypeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chloride ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables exopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heterocyclic compound binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metallodipeptidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables metallodipeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metallopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metallopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables mitogen-activated protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables mitogen-activated protein kinase kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidyl-dipeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptidyl-dipeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidyl-dipeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables peptidyl-dipeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables tripeptidyl-peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amyloid-beta metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in angiogenesis involved in coronary vascular morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in angiotensin maturation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in angiotensin maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in angiotensin maturation TAS
    Traceable Author Statement
    more info
     
    involved_in angiotensin-activated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in antigen processing and presentation of peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in arachidonic acid secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in blood vessel diameter maintenance IC
    Inferred by Curator
    more info
    PubMed 
    involved_in blood vessel remodeling IC
    Inferred by Curator
    more info
    PubMed 
    involved_in bradykinin catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell proliferation in bone marrow ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to aldosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryo development ending in birth or egg hatching IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hematopoietic stem cell differentiation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in hormone catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hormone catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in hormone metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mononuclear cell proliferation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of calcium ion import IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gap junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of glucose import IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neutrophil mediated immunity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of peptidyl-cysteine S-nitrosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of systemic arterial blood pressure IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-transcriptional regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of angiotensin metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of heart rate by cardiac conduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of hematopoietic stem cell proliferation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of hematopoietic stem cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of renal output by angiotensin IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of smooth muscle cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of systemic arterial blood pressure by renin-angiotensin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of systemic arterial blood pressure by renin-angiotensin IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of systemic arterial blood pressure by renin-angiotensin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of vasoconstriction IC
    Inferred by Curator
    more info
    PubMed 
    involved_in response to dexamethasone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to laminar fluid shear stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to thyroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in substance P catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basal plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in brush border membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in sperm midpiece IEA
    Inferred from Electronic Annotation
    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_006721800.3
    XP_054171272.1

    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
      B0LPF0, B4DXI3, E7EU16, P12821, P22966, Q53YX9, Q59GY8, Q7M4L4
      UniProtKB/TrEMBL
      A0A0A0MSN4, I3UJJ7
      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/TrEMBL
      F6X3S4, L7MUH0
      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
      Conserved Domains (2) summary
      pfam01401
      Location:4541032
      Peptidase_M2; Angiotensin-converting enzyme
      cl14813
      Location:184434
      GluZincin; Gluzincin Peptidase family (thermolysin-like proteinases, TLPs) which includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
    4. NM_001382701.1NP_001369630.1  angiotensin-converting enzyme isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC113554
      Conserved Domains (2) summary
      pfam01401
      Location:359937
      Peptidase_M2; Angiotensin-converting enzyme
      cl14813
      Location:1339
      GluZincin; Gluzincin Peptidase family (thermolysin-like proteinases, TLPs) which includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
    5. NM_001382702.1NP_001369631.1  angiotensin-converting enzyme isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC113554
      UniProtKB/TrEMBL
      B4DXK6
      Conserved Domains (1) summary
      pfam01401
      Location:1426
      Peptidase_M2; Angiotensin-converting enzyme
    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/TrEMBL
      F6X3S4, L7MUH0
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_006721737.4XP_006721800.3  angiotensin-converting enzyme isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      64347269..64368872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315297.1XP_054171272.1  angiotensin-converting enzyme isoform X1

    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.