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ACE2 angiotensin I converting enzyme 2 [ Homo sapiens (human) ]

Gene ID: 59272, updated on 5-Aug-2018

Summary

Official Symbol
ACE2provided by HGNC
Official Full Name
angiotensin I converting enzyme 2provided by HGNC
Primary source
HGNC:HGNC:13557
See related
Ensembl:ENSG00000130234 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
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]
Expression
Biased expression in small intestine (RPKM 93.7), duodenum (RPKM 69.0) and 5 other tissues See more
Orthologs

Genomic context

See ACE2 in Genome Data Viewer
Location:
Xp22.2
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (15494520..15602069, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15579156..15620192, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PIR-FIGF readthrough Neighboring gene vascular endothelial growth factor D Neighboring gene pirin Neighboring gene BMX non-receptor tyrosine kinase Neighboring gene uncharacterized LOC104798195 Neighboring gene collectrin, amino acid transport regulator Neighboring gene prothymosin alpha pseudogene 14

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...
  • 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...
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Renin-angiotensin system, organism-specific biosystem (from KEGG)
    Renin-angiotensin system, organism-specific biosystemThe renin-angiotensin system (RAS) is a peptidergic system with endocrine characteristics regarding to the regulation of the blood pressure and hydro-electrolytic balance. In the classical RAS, the ...
  • Renin-angiotensin system, conserved biosystem (from KEGG)
    Renin-angiotensin system, conserved biosystemThe renin-angiotensin system (RAS) is a peptidergic system with endocrine characteristics regarding to the regulation of the blood pressure and hydro-electrolytic balance. In the classical RAS, the ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434A014

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carboxypeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carboxypeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
exopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metallocarboxypeptidase activity EXP
Inferred from Experiment
more info
PubMed 
NOT metallopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT peptidyl-dipeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
virus receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
virus receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
zinc ion binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
angiotensin maturation IC
Inferred by Curator
more info
PubMed 
angiotensin maturation TAS
Traceable Author Statement
more info
 
angiotensin-mediated drinking behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of amino acid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cardiac muscle contraction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gap junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of reactive oxygen species metabolic process IC
Inferred by Curator
more info
PubMed 
receptor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor-mediated virion attachment to host cell IDA
Inferred from Direct Assay
more info
PubMed 
regulation of blood vessel diameter IC
Inferred by Curator
more info
PubMed 
regulation of cardiac conduction 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 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 
tryptophan transport IEA
Inferred from Electronic Annotation
more info
 
viral entry into host cell TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
brush border membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane raft TAS
Traceable Author Statement
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 2
Names
ACE-related carboxypeptidase
angiotensin I converting enzyme (peptidyl-dipeptidase A) 2
angiotensin-converting enzyme homolog
metalloprotease MPROT15
peptidyl-dipeptidase A
NP_068576.1
XP_011543851.1
XP_011543853.1
XP_011543854.1

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_012575.1 RefSeqGene

    Range
    5001..46037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_068576.1

    Status: REVIEWED

    Source sequence(s)
    AB193259
    Consensus CDS
    CCDS14169.1
    UniProtKB/Swiss-Prot
    Q9BYF1
    Related
    ENSP00000389326.1, ENST00000427411.1
    Conserved Domains (2) summary
    pfam01401
    Location:19606
    Peptidase_M2; Angiotensin-converting enzyme
    pfam16959
    Location:617770
    Collectrin; Renal amino acid transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    15494520..15602069 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545551.3XP_011543853.1  angiotensin-converting enzyme 2 isoform X2

    Conserved Domains (2) summary
    pfam01401
    Location:19606
    Peptidase_M2; Angiotensin-converting enzyme
    pfam16959
    Location:617770
    Collectrin; Renal amino acid transporter
  2. XM_011545549.2XP_011543851.1  angiotensin-converting enzyme 2 isoform X1

    Conserved Domains (2) summary
    pfam01401
    Location:19606
    Peptidase_M2; Angiotensin-converting enzyme
    pfam16959
    Location:617770
    Collectrin; Renal amino acid transporter
  3. XM_011545552.2XP_011543854.1  angiotensin-converting enzyme 2 isoform X3

    Conserved Domains (2) summary
    pfam01401
    Location:19556
    Peptidase_M2; Angiotensin-converting enzyme
    pfam16959
    Location:556659
    Collectrin; Renal amino acid transporter
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