Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 1636, updated on 22-Dec-2014
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]
Location:
17q23.3
Exon count:
26
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 voltage-gated channel, subfamily H (eag-related), 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: CN031587 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
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 
metallopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
metallopeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
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
 
arachidonic acid secretion IDA
Inferred from Direct Assay
more info
PubMed 
blood vessel remodeling IC
Inferred by Curator
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
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 
peptide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of blood pressure 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 vasoconstriction IC
Inferred by Curator
more info
PubMed 
regulation of vasodilation IC
Inferred by Curator
more info
PubMed 
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 region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
angiotensin-converting enzyme
Names
angiotensin-converting enzyme
kininase II
peptidase P
CD143 antigen
testicular ECA
carboxycathepsin
dipeptidyl carboxypeptidase 1
dipeptidyl carboxypeptidase I
angiotensin converting enzyme, somatic isoform
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
angiotensin I converting enzyme peptidyl-dipeptidase A 1 transcript
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 

    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 proteins identical to 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 proteins identical to 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 proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    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_006721737.1XP_006721800.1  

    See proteins identical to XP_006721800.1

    UniProtKB/TrEMBL
    D3DU13
    Conserved Domains (1) summary
    cd06461
    Location:4522
    M2_ACE; Peptidase family M2 Angiotensin converting enzyme (ACE)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

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

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    56922781..56944100
    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.