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

Gene ID: 1636, updated on 7-Aug-2022

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

See ACE in Genome Data Viewer
Location:
17q23.3
Exon count:
26
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63477061..63498373)
110 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 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
Disorder of cardiovascular system
MedGen: C0007222 GeneReviews: Not available
Compare labs
Intracerebral hemorrhage
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: CN305377 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

Homology

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 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
PubMed 
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
PubMed 
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 aging IEA
Inferred from Electronic Annotation
more info
 
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 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 brain development IEA
Inferred from Electronic Annotation
more info
 
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 negative regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of renal sodium excretion 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 inflammatory response 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 peptidyl-tyrosine autophosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein tyrosine kinase activity 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
PubMed 
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 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
PubMed 
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 sensory perception of pain 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 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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

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, Q7M4L4
    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
    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
    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/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 Annotation Release 110 details...Open this link in a new tab

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)

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.