Format

Send to:

Choose Destination

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

Gene ID: 1636, updated on 11-Oct-2020

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

Genomic context

See ACE in Genome Data Viewer
Location:
17q23.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (63477061..63498373)
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 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: C0266313 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 
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 
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 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 blood pressure IBA
Inferred from Biological aspect of Ancestor
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 blood vessel diameter IC
Inferred by Curator
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)

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 109.20200815

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.
Support Center