ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 [Homo sapiens] - Gene

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Summary

Official Symbol: ACEprovided by HGNC
Official Full Name: angiotensin I converting enzyme (peptidyl-dipeptidase A) 1provided by HGNC
Primary source: 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; MGC26566
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]

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Genomic context

Location :: 17q23.3

Sequence :: Chromosome: 17; NC_000017.10 (61554422..61575741)

See ACE in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Suggest epistatic effects of ACE I/D and AGT gene variants on left ventricular mass in hypertensive patients.
Title: Epistatic effects of ACE I/D and AGT gene variants on left ventricular mass in hypertensive patients: the HyperGEN study.
The frequencies of DD genotype and D allele in boys were 7.25 and 2.56 times higher than II genotype and I allele in the patient group, respectively. We suggest that DD genotype in boys may be one of the risk factors for minimal change nephrotic syndrome.
Title: DD genotype of ACE gene in boys: may it be a risk factor for minimal change nephrotic syndrome?
These results demonstrated the existence of higher frequency of the D/D genotype and D allele in premature neonates with respiratory distress syndrome.
Title: ACE gene polymorphism in premature neonates with respiratory distress syndrome.
Phosphorylation of amyloid-beta peptide at serine 8 attenuates its clearance via insulin-degrading and angiotensin-converting enzymes.
Title: Phosphorylation of amyloid-β peptide at serine 8 attenuates its clearance via insulin-degrading and angiotensin-converting enzymes.
Data suggest that angiotensin-converting enzyme (ACE) genotype and subsequently serum ACE levels could be associated with the disease activity of Egyptian systemic lupus erythematosus patients.
Title: Angiotensin-converting enzyme (ACE) serum levels and gene polymorphism in Egyptian patients with systemic lupus erythematosus.
No significant association between the ACE I/D polymorphism and risk of heart failure was found. [meta-analysis]
Title: Association of angiotensin-converting enzyme I/D polymorphism with heart failure: a meta-analysis.
genotypes of the ACE gene are linked to certain haplotypes, which could influence IgA nephropathy patients' response to angiotensin 1-converting enzyme inhibitor/angiotensin receptor antagonist therapy
Title: ACE gene sequence and nucleotide variants in IgA nephropathy.
data do not support the association between ACE I/D genotype and acute respiratory distress syndrome, although severe hypoxemia was less frequent in D allele carriers
Title: Angiotensin-converting enzyme insertion/deletion polymorphism is associated with severe hypoxemia in pediatric ARDS.
The common ACE deletion polymorphism is associated with a greater than 2-fold increase in the odds of developing JET in children undergoing surgical repair of congenital heart defects.
Title: A genetic contribution to risk for postoperative junctional ectopic tachycardia in children undergoing surgery for congenital heart disease.
ACE displays a key role on its own downregulation in response to shear-stress via phosphorylation of cytoplasmic Ser(1270).
Title: ACE as a mechanosensor to shear stress influences the control of its own regulation via phosphorylation of cytoplasmic Ser(1270).

Submit: New GeneRIF Correction See all (820)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.

HIV-1 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 Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P12821	P50052	AGTR2	HPRD	PubMed
P12821	P30411	BDKRB2	HPRD	PubMed
P12821	P21964	COMT	HPRD	PubMed
BioGRID:108004	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex

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
metal ion binding	IEA Inferred from Electronic Annotation more info
metallopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
metallopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
peptidase activity	IEA Inferred from Electronic Annotation more info
peptide binding	IEA Inferred from Electronic Annotation 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
arachidonic acid secretion	IDA Inferred from Direct Assay more info	PubMed
blood vessel remodeling	IC Inferred by Curator more info	PubMed
eating behavior	IEA Inferred from Electronic Annotation more info
heart contraction	IEA Inferred from Electronic Annotation more info
hemopoietic 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
neutrophil mediated immunity	IEA Inferred from Electronic Annotation more info
peptide catabolic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
positive regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
positive regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
proteolysis	IEA Inferred from Electronic Annotation more info
regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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
response to hypoxia	IEA Inferred from Electronic Annotation more info
response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
response to nutrient levels	IEA Inferred from Electronic Annotation more info
sensory perception of pain	IEA Inferred from Electronic Annotation 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 region	IEA Inferred from Electronic Annotation more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane fraction	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

NP_000780.1

EC 3.4.15.1

NP_001171528.1

EC 3.4.15.1

NP_690043.1

EC 3.4.15.1

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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

NG_011648.1 RefSeqGene

Range

4989..26308

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000789.3 → NP_000780.1 angiotensin-converting enzyme isoform 1 precursor

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 (2) summary

cd06461
Location:652 – 1212
Blast Score: 2615

M2_ACE; Peptidase family M2 Angiotensin converting enzyme (ACE)

pfam01401
Location:634 – 1228
Blast Score: 3086

Peptidase_M2; Angiotensin-converting enzyme
NM_001178057.1 → NP_001171528.1 angiotensin-converting enzyme isoform 3 precursor

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, ENST00000413513

Conserved Domains (2) summary

cd06461
Location:78 – 597
Blast Score: 2322

M2_ACE; Peptidase family M2 Angiotensin converting enzyme (ACE)

pfam01401
Location:66 – 613
Blast Score: 2787

Peptidase_M2; Angiotensin-converting enzyme
NM_152830.2 → NP_690043.1 angiotensin-converting enzyme isoform 2 precursor

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, ENST00000290863

Conserved Domains (2) summary

cd06461
Location:78 – 638
Blast Score: 2630

M2_ACE; Peptidase family M2 Angiotensin converting enzyme (ACE)

pfam01401
Location:66 – 654
Blast Score: 3078

Peptidase_M2; Angiotensin-converting enzyme

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

61554422..61575741

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

56922781..56944100

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	A31567.1	CAA02045.1
genomic	AC113554.9 (83903..128672)	None
genomic	AF118569.1	AAD28560.1
		AAD28561.1
genomic	AF229986.1	None
genomic	AY436326.1	AAR03504.1
genomic	AY999972.1	ABA39228.1
genomic	AY999973.1	ABA39229.1
genomic	CH471109.2	EAW94311.1
		EAW94312.1
		EAW94313.1
		EAW94314.1
		EAW94315.1
		EAW94316.1
		EAW94317.1
		EAW94318.1
		EAW94319.1
		EAW94320.1
		EAW94321.1
genomic	EU332840.1	ABY87529.1
mRNA	AB208971.1	BAD92208.1
mRNA	AK296566.1	BAG59186.1
mRNA	AK300516.1	BAG62228.1
mRNA	AK301988.1	BAG63395.1
mRNA	AK302019.1	BAG63418.1
mRNA	AK309514.1	None
mRNA	BM908180.1	None
mRNA	BM908222.1	None
mRNA	J04144.1	AAA51684.1
mRNA	M26657.1	AAA60611.1
mRNA	M29981.1	None
mRNA	S81361.1	AAD14360.1
mRNA	X16295.1	CAA34362.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P12821.1	GenPept	UniProtKB/Swiss-Prot:P12821
Q16425	GenPept	UniProtKB/TrEMBL:Q16425
Q3KRI5	GenPept	UniProtKB/TrEMBL:Q3KRI5