ACE2 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 [Homo sapiens] - Gene

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Summary

Official Symbol: ACE2provided by HGNC
Official Full Name: angiotensin I converting enzyme (peptidyl-dipeptidase A) 2provided by HGNC
Primary source: HGNC:13557
Locus tag: UNQ868/PRO1885
See related: Ensembl:ENSG00000130234; HPRD:02274; MIM:300335; Vega:OTTHUMG00000021177
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: ACEH; DKFZp434A014
Summary: The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. The organ- and cell-specific expression of this gene suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronaviruses SARS and HCoV-NL63. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: Xp22

Sequence :: Chromosome: X; NC_000023.10 (15579156..15620192, complement)

See ACE2 in Epigenomics, MapViewer

Chromosome X - NC_000023.10 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?

ACE2 activity increases with increasing vascular tone and in T1D has microvascular or macrovascular disease, indicating that ACE2 may participate as a compensatory mechanism in the regulation of vascular and renal function in patients with T1D
Title: Circulating ACE2 activity is increased in patients with type 1 diabetes and vascular complications.
These findings complement those found in other studies of single nucleotide polymorphisms in the ACE2 gene in relation to cardiovascular disease risk.
Title: A polymorphism in ACE2 is associated with a lower risk for fatal cardiovascular events in females: the MORGAM project.
the II genotype was found to be significantly associated with NS in the Indian and Malay populations and in the Pakistani population described here.
Title: Association of the ACE-II genotype with the risk of nephrotic syndrome in Pakistani children.
angiotensin-converting enzyme 2 has a role in cardiac hypertrophy induced by nitric oxide synthase inhibition
Title: Role of angiotensin-converting enzyme 2 in cardiac hypertrophy induced by nitric oxide synthase inhibition.
ACE2 overexpression in the paraventricular nucleus has beneficial effects in counteracting Ang II-induced hypertension.
Title: ACE2 overexpression in the paraventricular nucleus attenuates angiotensin II-induced hypertension.
Collectrin and ACE2 in renal and intestinal amino acid transport.
Title: Collectrin and ACE2 in renal and intestinal amino acid transport.
Data highlight the importance of increased expression and subsequent interaction of ACE2 and nNOS within the paraventricular nucleus, leading to a reduction in sympathetic outflow in congestive heart failure.
Title: Angiotensin-converting enzyme 2 overexpression improves central nitric oxide-mediated sympathetic outflow in chronic heart failure.
The nucleotide sequences -516/-481 of human ace2 may be a binding domain for an as yet unidentified regulatory factor(s) that regulates ace2 expression and is associated with angiotensin II stimulation.
Title: Identifying the regulatory element for human angiotensin-converting enzyme 2 (ACE2) expression in human cardiofibroblasts.
Central recombinant human ACE2 overexpression has a protective effect in murine congestive heart failure by attenuating sympathetic outflow thru ngiotensin (1-7) mas signaling & a decrease in angiotensin II type 1 receptor signaling in the medulla.
Title: Brain-selective overexpression of angiotensin-converting enzyme 2 attenuates sympathetic nerve activity and enhances baroreflex function in chronic heart failure.
Hypoxia down-regulates the protein and gene expression of ACE2 in HUVECs.
Title: [Effects of hypoxia on the expression of angiotensin-converting enzyme 2 in human umbilical vein endothelial cells].

Submit: New GeneRIF Correction See all (132)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_068576.1	AAP13441.1		BIND	PubMed	ACE2 interacts with the SARS coronavirus S protein. This interaction was modeled on a demonstrated interaction between SARS coronavirus S protein and monkey ACE2.
NP_068576.1	AAP41037.1		BIND	PubMed	Human ACE2 interacts with SARS-CoV S protein of the TOR2 isolate.
NP_068576.1	AAS10463.1		BIND	PubMed	Human ACE2 interacts with SARS-CoV S protein of the GD03T0013 isolate.
NP_068576.1			BIND	PubMed	Human ACE2 interacts, albeit weakly, with SARS-CoV S protein of the SZ3 isolate.
Q9BYF1	P01019	AGT	HPRD	PubMed
Q9BYF1	Q9UBU3	GHRL	HPRD	PubMed
Q9BYF1	P30990	NTS	HPRD	PubMed
BioGRID:121864	BioGRID:107252	CALM1	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
carboxypeptidase activity	IDA Inferred from Direct Assay more info	PubMed
endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
glycoprotein binding	IPI Inferred from Physical Interaction more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
NOT metallopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
peptidase activity	IEA Inferred from Electronic Annotation more info
NOT peptidyl-dipeptidase activity	IDA Inferred from Direct Assay more info	PubMed
viral receptor activity	IDA Inferred from Direct Assay more info	PubMed
zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
angiotensin catabolic process in blood	IC Inferred by Curator more info	PubMed
angiotensin-mediated drinking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
entry of virus into host cell	TAS Traceable Author Statement more info	PubMed
interspecies interaction between organisms	IEA Inferred from Electronic Annotation more info
positive regulation of reactive oxygen species metabolic process	IC Inferred by Curator more info	PubMed
proteolysis	IEA Inferred from Electronic Annotation more info
receptor biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cell proliferation	TAS Traceable Author Statement more info	PubMed
regulation of cytokine production	IC Inferred by Curator more info	PubMed
regulation of inflammatory response	IC Inferred by Curator 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
regulation of vasodilation	IC Inferred by Curator more info	PubMed
response to virus	IDA Inferred from Direct Assay more info	PubMed
virion attachment, binding of host cell surface receptor	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cell surface	IDA Inferred from Direct Assay more info	PubMed
extracellular region	IDA Inferred from Direct Assay more info	PubMed
extracellular space	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane raft	TAS Traceable Author Statement more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: angiotensin-converting enzyme 2

Names: angiotensin-converting enzyme 2; metalloprotease MPROT15; ACE-related carboxypeptidase; angiotensin I converting enzyme 2; angiotensin-converting enzyme homolog

NP_068576.1

EC 3.4.17.23

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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_012575.1 RefSeqGene

Range

5001..46037

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_021804.2 → NP_068576.1 angiotensin-converting enzyme 2 precursor

Status: REVIEWED

Source sequence(s)

AB193259

Consensus CDS

CCDS14169.1

UniProtKB/TrEMBL

C7ECU1

UniProtKB/Swiss-Prot

Q9BYF1

Related

ENSP00000389326, ENST00000427411

Conserved Domains (2) summary

cd06461
Location:28 – 599
Blast Score: 2286

M2_ACE; Peptidase family M2 Angiotensin converting enzyme (ACE)

pfam01401
Location:19 – 612
Blast Score: 1528

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_000023.10 Reference GRCh37.p5 Primary Assembly

Range

15579156..15620192, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

13333989..13374656, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC097625.11 (140417..180398)	None
genomic	AF366352.1	None
genomic	AY217547.1	AAO25651.1
genomic	CH471074.1	EAW98891.1
		EAW98892.1
mRNA	AB046569.1	BAB40370.1
mRNA	AB193259.1	BAD99266.1
mRNA	AB193260.1	BAD99267.1
mRNA	AF241254.1	AAF78220.1
mRNA	AF291820.1	AAF99721.1
mRNA	AK026461.1	None
mRNA	AK315144.1	BAG37592.1
mRNA	AL110224.1	CAB53682.1
mRNA	AY358714.1	AAQ89076.1
mRNA	AY623811.1	AAT45083.1
mRNA	BC032938.1	None
mRNA	BC039902.1	AAH39902.1
mRNA	BC048094.1	AAH48094.2
mRNA	BC048144.1	None
mRNA	BC059378.1	None
mRNA	GQ262784.1	ACT66268.1