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ACE Gene

protein-coding   GIFtS: 72
GCID: GC17P061554

Angiotensin I Converting Enzyme

(Previous name: angiotensin I converting enzyme (peptidyl-dipeptidase A)...)
(Previous symbol: DCP1)
  See ACE-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Angiotensin I Converting Enzyme1 2     CD1432
DCP11 2 3 5     Angiotensin Converting Enzyme, Somatic Isoform2
Angiotensin I Converting Enzyme (Peptidyl-Dipeptidase A) 11 2     Angiotensin I Converting Enzyme Peptidyl-Dipeptidase A 1 Transcript2
Dipeptidyl Carboxypeptidase I2 3     Angiotensin-Converting Enzyme2
Kininase II2 3     carboxycathepsin2
DCP2 3     Dipeptidyl Carboxypeptidase 12
CD143 Antigen2 3     Peptidase P2
ACE12 5     Testicular ECA2
ICH2 5     EC 3.2.1.-3
MVCD32 5     EC 3.4.15.13
Peptidyl-Dipeptidase A1     

External Ids:    HGNC: 27071   Entrez Gene: 16362   Ensembl: ENSG000001596407   OMIM: 1061805   UniProtKB: P128213   

Export aliases for ACE gene to outside databases

Previous GC identifers: GC17P061205 GC17P063980 GC17P061895 GC17P062027 GC17P058908 GC17P056922


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACE Gene:
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)

GeneCards Summary for ACE Gene:
ACE (angiotensin I converting enzyme) is a protein-coding gene. Diseases associated with ACE include neurosarcoidosis, and renal tubular dysgenesis, ace-related. GO annotations related to this gene include drug binding and actin binding. An important paralog of this gene is TMEM27.

UniProtKB/Swiss-Prot: ACE_HUMAN, P12821
Function: Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase
of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has
also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose
linkage in the GPI moiety

summary for ACE Gene:
Angiotensin-converting enzyme (ACE, aka peptidyl dipeptidase A, carboxycathepsin) cleaves a C-terminal
dipeptide from angiotensin I to create the vasoconstrictor peptide, angiotensin II. ACE can also inactivate
the vasodilator peptide, bradykinin. There are two isoforms of ACE, a smaller/single catalytic site enzyme
found in the testes and a more widely expressed ~180kDa dual active site isoform. ACE is often membrane
bound. In contrast to ACE, the homolog ACE2, has recently been shown to cleave and inactivate angiotensin II
to generate the vasodilator Angiotensin (1-7). ACE inhibitors are widely used to treat hypertension and
cardiovascular diseases. ACE inhibitors have also been used to slow nephropathy, particularly when it is
associated with diabetes.

Gene Wiki entry for ACE (Angiotensin-converting enzyme) Gene

PharmGKB "VIP" summary for ACE


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACE gene promoter:
         Sp1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACE promoter sequence
   Search Chromatin IP Primers for ACE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q23.3   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q23.3

ACE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACE gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P061554:  view genomic region     (about GC identifiers)

Start:
61,554,422 bp from pter      End:
61,599,205 bp from pter
Size:
44,784 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ACE_HUMAN, P12821 (See protein sequence)
Recommended Name: Angiotensin-converting enzyme precursor  
Size: 1306 amino acids; 149715 Da
Cofactor: Binds 2 zinc ions per subunit. Isoform Testis-specific only binds 1 zinc ion per subunit
Cofactor: Binds 3 chloride ions per subunit
Miscellaneous: Inhibitors of ACE are commonly used to treat hypertension and some types of renal and cardiac
dysfunction
Miscellaneous: The glycosidase activity probably uses different active site residues than the metalloprotease
activity
Sequence caution: Sequence=BAD92208.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for ACE (see all 26):
1O86 (3D)        1O8A (3D)        1UZE (3D)        1UZF (3D)        2C6F (3D)        2C6N (3D)    
Secondary accessions: B0LPF0 B4DXI3 E7EU16 P22966 Q53YX9 Q59GY8 Q7M4L4
Alternative splicing: 4 isoforms:  P12821-1   P12821-2   P12821-3, P22966-1   P12821-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACE: NX_P12821

Explore proteomics data for ACE at MOPED

Post-translational modifications: 

  • Phosphorylated by CK2 on Ser-1299; which allows membrane retention1
  • Glycosylation2 at Asn38, Asn54, Asn74, Asn111, Asn146, Asn160, Asn318, Asn445, Asn509, Asn677,
                                 Asn695, Asn714, Asn760, Asn942, Asn1191
  • Modification sites at PhosphoSitePlus

  • See ACE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000780.1  NP_001171528.1  NP_690043.1  

    ENSEMBL proteins: 
     ENSP00000462995   ENSP00000290866   ENSP00000462280   ENSP00000463302   ENSP00000463673  
     ENSP00000290863   ENSP00000462002   ENSP00000462110   ENSP00000392247   ENSP00000462599  
     ENSP00000464629   ENSP00000462909   ENSP00000464428   ENSP00000397593   ENSP00000439591  
     ENSP00000464539   ENSP00000387760  
    Reactome Protein details: P12821

    ACE Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ACE (ACE/CD143)
    Enzo Life Sciences proteins for ACE
    OriGene Purified Protein for ACE
    OriGene Protein Over-expression Lysate for ACE
    OriGene MassSpec for ACE
    OriGene Custom Protein Services for ACE
    GenScript Custom Purified and Recombinant Proteins Services for ACE
    Novus Biologicals ACE Protein
    Novus Biologicals ACE Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACE

     
    Search eBioscience for Proteins for ACE 

     
    antibodies-online proteins for ACE (16 products) 

     
    antibodies-online peptides for ACE

    ACE Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACE
    R&D Systems Antibodies for ACE (ACE/CD143)
    OriGene Antibodies for ACE
    OriGene Custom Antibody Services for ACE
    Novus Biologicals ACE Antibodies
    Abcam antibodies for ACE
    Cloud-Clone Corp. Antibodies for ACE
    ThermoFisher Antibodies for ACE
    antibodies-online antibodies for ACE (135 products) 

    ACE Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ACE
    R&D Systems ELISAs for ACE (ACE/CD143)         (see all)
    GenScript ACE-Activity-based Protease?src=genec Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACE
    Cloud-Clone Corp. CLIAs for ACE
    Search eBioscience for ELISAs for ACE 
    antibodies-online kits for ACE (69 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: Angiotensin-converting enzyme 1
    Endopeptidases

    1 InterPro protein domain:
     IPR001548 Peptidase_M2

    Graphical View of Domain Structure for InterPro Entry P12821

    ProtoNet protein and cluster: P12821

    1 Blocks protein domain: IPB001548 Peptidyl-dipeptidase A (M2) metalloprotease family signature

    UniProtKB/Swiss-Prot: ACE_HUMAN, P12821
    Similarity: Belongs to the peptidase M2 family


    Find genes that share domains with ACE           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACE_HUMAN, P12821
    Function: Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase
    of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has
    also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose
    linkage in the GPI moiety
    Catalytic activity: Release of a C-terminal dipeptide, oligopeptide- -Xaa-Yaa, when Xaa is not Pro, and Yaa is
    neither Asp nor Glu. Thus, conversion of angiotensin I to angiotensin II, with increase in vasoconstrictor
    activity, but no action on angiotensin II
    Enzyme regulation: Strongly activated by chloride. Specifically inhibited by lisinopril, captopril and enalaprilat
    Biophysicochemical properties: Kinetic parameters: KM=2.51 mM for Hip-His-Leu;
    Induction: Up-regulated in failing heart

         Enzyme Numbers (IUBMB): EC 3.2.1.-1 EC 3.4.15.11

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA16186248
    GO:0004175endopeptidase activity IDA15283675
    GO:0004180carboxypeptidase activity IEA--
    GO:0005515protein binding IPI16186248
    GO:0008144drug binding IDA1320019
         
    Find genes that share ontologies with ACE           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ACE:
     Increased gamma-H2AX phosphory 

         14 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Ace):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  renal/urinary system  reproductive system  tumorigenesis 

    Find genes that share phenotypes with ACE           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ACE: Acetm1Mcf Acetm1Unc Acetm2Unc Acetm1Keb Acetm4Keb Acetm2Keb

       genOway: Develop your customized and physiologically relevant rodent model for ACE

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACE:
    hsa-mir-335-5p (MIRT018383)

    Block miRNA regulation of human, mouse, rat ACE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACE (see all 9):
    hsa-miR-4297 hsa-miR-27a hsa-miR-513a-5p hsa-miR-340 hsa-miR-3126-5p hsa-miR-3119 hsa-miR-630 hsa-miR-1286
    SwitchGear 3'UTR luciferase reporter plasmidACE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACE
    Predesigned siRNA for gene silencing in human, mouse, rat ACE

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACE

    Clone
    Products:
         
    OriGene clones in human, mouse for ACE (see all 21)
    OriGene ORF clones in mouse, rat for ACE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ACE (NM_000789)
    Sino Biological Human cDNA Clone for ACE
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACE

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ACE
    Browse ESI BIO Cell Lines and PureStem Progenitors for ACE 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACE_HUMAN, P12821: Angiotensin-converting enzyme, soluble form: Secreted
    ACE_HUMAN, P12821: Cell membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    endosome4
    nucleus3
    cytoskeleton2
    endoplasmic reticulum2
    mitochondrion2
    peroxisome2
    cytosol1
    golgi apparatus1
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA15283675
    GO:0005768endosome IDA17077303
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane IDA9449382

    Find genes that share ontologies with ACE           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACE About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics0.37
    ACE Inhibitor Pathway, Pharmacodynamics0.00
    Renin-angiotensin system0.37
    ACE Inhibitor Pathway0.00
    2Peptide hormone metabolism
    Peptide hormone metabolism0.30
    Metabolism of Angiotensinogen to Angiotensins0.00
    3Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    4p70S6K Signaling
    Renin-Angiotensin Pathway0.60
    5Toll-like receptor signaling pathway
    Chagas disease (American trypanosomiasis)0.32


    Find genes that share SuperPaths with ACE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for ACE
        A-beta Uptake & Degradation
    A-beta Plaque Formation & APP Metabolism

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ACE
        Renin-Angiotensin Pathway

    1 GeneGo (Thomson Reuters) Pathway for ACE
        Transcription CREM signaling in testis

    1 BioSystems Pathway for ACE
        ACE Inhibitor Pathway


    1 Reactome Pathway for ACE
        Metabolism of Angiotensinogen to Angiotensins

    2 PharmGKB Pathways for ACE
        ACE Inhibitor Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics

    3 Kegg Pathways  (Kegg details for ACE):
        Renin-angiotensin system
    Chagas disease (American trypanosomiasis)
    Hypertrophic cardiomyopathy (HCM)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACE: 
              Hypertension in human mouse rat
              Endothelial Cell Biology in human mouse rat
              Atherosclerosis in human mouse rat
              Diabetes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for ACE (P128213 ENSP000002908664) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGTR2P500523, ENSP000003609734I2D: score=1 STRING: ENSP00000360973
    COMTP219643, ENSP000003545114I2D: score=1 STRING: ENSP00000354511
    BDKRB2P304113, ENSP000003077134I2D: score=1 STRING: ENSP00000307713
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ACE2ENSP000002525194STRING: ENSP00000252519
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IMP16116425
    GO:0001974blood vessel remodeling IC1668266
    GO:0002003angiotensin maturation TAS--
    GO:0002005angiotensin catabolic process in blood IC1668266
    GO:0002019regulation of renal output by angiotensin IC1668266

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for ACE
      Browse compounds at ApexBio 

    Compounds for ACE available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Benazepril hydrochlorideAngiotensin-converting enzyme (ACE) inhibitor[86541-74-4]
    Moexipril hydrochlorideAngiotensin-converting enzyme (ACE) inhibitor[82586-52-5]
    Perindopril erbumineAngiotensin-converting enzyme (ACE) inhibitor[107133-36-8]

    5 HMDB Compounds for ACE    About this table
    CompoundSynonyms CAS #PubMed Ids
    Angiotensin IIHypertensin (see all 11)11128-99-7--
    BradykininCallidin I (see all 5)58-82-2--
    ChlorineCl2 (see all 13)16887-00-6--
    LisinoprilAcerbon (see all 34)83915-83-7--
    ZincZinc (see all 2)7440-66-6--

    Selected DrugBank Compounds for ACE (see all 17)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Captopril
    • Captoprilum [INN-Latin]
    • Captopryl
    • L-Captopril
    (see top 1)
    62571-86-2targetinhibitor20014331 17618628 11929321 11030016 15236580 11752352 16889963
    Cilazapril-- 92077-78-6targetinhibitor18423812 10398211 1382157 11752352 10446934 1382161 10205231
    Lisinopril-- 83915-83-7targetinhibitor17618628 9506845 11929321 11030016 11752352
    Spirapril-- 83647-97-6targetinhibitor11929321 20524801 11752352 12613273 16126915
    Enalapril
    • Enalapril Maleate
    • Enalaprila [INN-Spanish]
    • Enalaprilat
    • Enalaprilum [INN-Latin]
    (see top 1)
    75847-73-3targetinhibitor17618628 16424790 15236580 11752352
    Fosinopril-- 98048-97-6targetinhibitor2836111 11329095 11030016 11752352
    Moexipril
    • Moexipril HCl
    • Moexipril hydrochloride
    • Moexiprilum [INN-Latin]
    (see top 1)
    103775-10-6targetinhibitor7473177 11929321 11752352 15286086
    Perindopril-- 107133-36-8targetinhibitor16370923 11929321 11752352 19379059
    Quinapril
    • Quinapril HCl
    • Quinapril Hydrochloride
    • Quinaprilum [Latin]
    (see top 1)
    85441-61-8targetinhibitor11929321 11752352 3020249 11817979
    Ramipril-- 87333-19-5targetinhibitor16398929 11929321 11030016 11752352

    1 IUPHAR Ligand for ACE (Angiotensin-converting enzyme 1)    About this table
    LigandTypeActionAffinityPubmed IDs
    captopril
    InhibitorInhibition--

    Selected Novoseek inferred chemical compound relationships for ACE gene (see all 127)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enalapril 93.5 720 7742150 (6), 11205963 (5), 1330361 (4), 9723634 (4) (see all 99)
    captopril 92.7 883 1847704 (5), 16394648 (5), 1330361 (4), 8074019 (4) (see all 99)
    lisinopril 92.4 420 9061270 (4), 1327597 (4), 8891468 (4), 18483087 (4) (see all 99)
    ramipril 91.6 389 12423701 (4), 1837563 (3), 1725019 (3), 12639174 (3) (see all 99)
    perindopril 90.3 384 9236432 (6), 1327597 (5), 19379059 (5), 10800878 (4) (see all 99)
    fosinopril 88.4 164 1646240 (4), 7919557 (3), 8861547 (3), 8934359 (3) (see all 98)
    quinapril 88.3 255 7527326 (7), 9049577 (5), 10024837 (4), 2068835 (4) (see all 99)
    enalaprilat 88.2 223 10082496 (4), 9815869 (4), 11827728 (3), 1656995 (3) (see all 99)
    trandolapril 86.4 138 7527095 (5), 9829159 (4), 12669106 (3), 17711535 (3) (see all 93)
    cilazapril 85.9 145 7614501 (4), 11108164 (4), 1689417 (3), 2139303 (3) (see all 97)

    Selected PharmGKB related drug/compound annotations for ACE gene (see all 23)    About this table
    Drug/compound PharmGKB Annotation
    Beta Blocking AgentsCA  
    acetylcholineCA  
    amlodipineCA  
    antidepressantsCA  
    antiepilepticsCA  
    atorvastatinCA  
    benazeprilCA  
    bumetanideCA  
    calcium channel blockersCA  
    captoprilCA  



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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACE gene (4 alternative transcripts): 
    NM_000789.3  NM_001178057.1  NM_152830.2  NM_152831.1  

    Unigene Cluster for ACE:

    Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
    Hs.298469  [show with all ESTs]
    Unigene Representative Sequence: JQ927553
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000583336 ENST00000584529 ENST00000582678(uc010ddu.2) ENST00000579462(uc010wph.2)
    ENST00000290866(uc002jau.2) ENST00000582627 ENST00000580318 ENST00000579726
    ENST00000290863(uc002jav.2 uc010wpj.2 uc010wpk.2) ENST00000582005
    ENST00000578839 ENST00000413513 ENST00000579314(uc010ddv.2) ENST00000579204
    ENST00000584865 ENST00000582761 ENST00000577418 ENST00000583645
    miRNA
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    hsa-miR-4297 hsa-miR-27a hsa-miR-513a-5p hsa-miR-340 hsa-miR-3126-5p hsa-miR-3119 hsa-miR-630 hsa-miR-1286
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    Additional mRNA sequence: 

    AB208971.1 AK296566.1 AK301988.1 J04144.1 JQ927553.1 M26657.1 S81361.1 X16295.1 

    13 DOTS entries:

    DT.450544  DT.95220519  DT.100790782  DT.75103816  DT.100790780  DT.86854701  DT.100790785  DT.95220571 
    DT.100770455  DT.100776952  DT.40116291  DT.95220617  DT.95322212 

    Selected AceView cDNA sequences (see all 223):

    BF196049 AW772446 AI096704 BM712523 AI371868 H27155 BE464066 BI826471 
    BF475825 BE382576 NM_152830 NM_152831 J04144 BE783248 AW772527 BG152896 
    BM984583 BQ881320 BQ020350 BI831717 NM_000789 CD364763 AW003214 BX380082 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACE (see all 14)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17 ^ 18a · 18b ^
    SP1:        -           -                                                                                   -     -     -     -           -     -           -   
    SP2:                                                                                                                                      -     -           -   
    SP3:                                                                                                                                      -     -           -   
    SP4:                                                                                                                          -           -     -           -   
    SP5:                                                                                                                                      -     -               

    ExUns: 19a · 19b · 19c ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b
    SP1:  -                 -                                         -                                       
    SP2:  -                 -                                         -                                       
    SP3:  -                                                           -                                       
    SP4:  -                 -                                                                                 
    SP5:  -                 -                                                                                 


    ECgene alternative splicing isoforms for ACE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ACE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAGAAGCT
    ACE Expression
    About this image


    ACE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Proximal Tubule Cells Proximal Tubule
             Metanephros
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Fourth Ventricle
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ACE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.298469

    UniProtKB/Swiss-Prot: ACE_HUMAN, P12821
    Tissue specificity: Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system
    and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACE: 
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              Diabetes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ACE gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ace1 , 5 angiotensin I converting enzyme (peptidyl-dipeptidase more1, 5 84.48(n)1
    83.86(a)1
      11 (68.84 cM)5
    114211  NM_207624.51  NP_997507.11 
     1059679455 
    chicken
    (Gallus gallus)
    Aves ACE1 angiotensin I converting enzyme (peptidyl-dipeptidase more 71.13(n)
    68.62(a)
      419953  NM_001167732.1  NP_001161204.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    65(a)
    1 → many
    6(61163031-61223313)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.57762 Transcribed sequence with weak similarity to protein more 77.22(n)    BQ526772.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ace1 angiotensin I converting enzyme (peptidyl-dipeptidase more 67.1(n)
    65.7(a)
      565980  XM_689244.6  XP_694336.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ance3 peptidyl-dipeptidase A 44(a)
    (best of 6)
      2 34E2   --
    worm
    (Caenorhabditis elegans)
    Secernentea acn-16
    Protein ACN-1, isoform a (acn-1) mRNA, complete cd...
    24(a)
    1 → many
    X(5092281-5097067) WBGene00000039


    ENSEMBL Gene Tree for ACE (if available)
    TreeFam Gene Tree for ACE (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACE gene
    TMEM272  ENSG000002648132  ACE22  
    1 SIMAP similar gene for ACE using alignment to 21 protein entries:     ACE_HUMAN (see all proteins):
    ACE2

    Find genes that share paralogs with ACE           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACE (see all 873)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1423282371,2
    C,Funtested162576747(+) CGCCTC/G/TGGCTT 2 S L mis11NA 4530
    rs43191,2
    C--61562490(+) CAGGG-/GCAGGG 3 -- int15Minor allele frequency- G:0.43NS CSA 682
    rs19738681,2
    C--61565725(+) agaaaG/Aaaaaa 3 -- int1 trp31Minor allele frequency- A:0.50WA 2
    rs17997631,2
    C--61575454(+) CATGACT/-CTCTG 3 -- ut311Minor allele frequency- -:0.00CSA 2
    rs1160037391,2
    C,F--62570158(+) CAATGC/G/TCCGCC 1 -- us2k11WA 118
    rs1831977121,2
    --62570206(+) GAGGCA/GAGGCC 1 -- us2k10--------
    rs1886071521,2
    --62570300(+) TTCAGA/GGGCTG 1 -- us2k10--------
    rs1995778711,2
    --62570351(+) TCCAC-/AGAAAGA 1 -- us2k10--------
    rs1922186741,2
    --62570391(+) TTTGCA/GCACAG 1 -- us2k10--------
    rs1844166471,2
    C--62570544(+) ACCAAA/C/TGTAGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACE (61554422 - 61599205 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ACE:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv273813CNV Insertion20981092
    esv270563CNV Insertion20981092
    nsv908682CNV Loss21882294
    nsv817771CNV Loss17921354
    nsv908683CNV Loss21882294
    nsv525599CNV Loss19592680

    Human Gene Mutation Database (HGMD): ACE
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACE
    DNA2.0 Custom Variant and Variant Library Synthesis for ACE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 106180   
    OMIM disorders: 104300  612624  267430  614519  
    UniProtKB/Swiss-Prot: ACE_HUMAN, P12821
  • Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural
    tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes,
    resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of
    heterogeneous disorders with multiple genetic and environmental risk factors. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular
    development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia
    from early-onset oligohydramnios (the Potter phenotype). Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Microvascular complications of diabetes 3 (MVCD3) [MIM:612624]: Pathological conditions that develop in
    numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic
    nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major
    cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased
    tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry
  • Intracerebral hemorrhage (ICH) [MIM:614519]: A pathological condition characterized by bleeding into one
    or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with
    hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for ACE (see all 79):    
    About MalaCards
    neurosarcoidosis    renal tubular dysgenesis, ace-related    microvascular complications of diabetes 3    sars, progression of
    stroke, hemorrhagic    mesangioproliferative glomerulopathy    hyporeninemic hypoaldosteronism    angioedema induced by ace inhibitors
    granulomatous dermatitis    moderate and severe traumatic brain injury    intestinal tuberculosis    hypertensive retinopathy
    left ventricular outflow tract obstruction    nephrosclerosis    kanzaki disease    hepatoportal sclerosis
    myocardial infarction 2    hypertension    alzheimer's disease    renovascular hypertension

    Selected diseases from the University of Copenhagen DISEASES database for ACE (see all 23):
    Hypertension     Heart disease     Proteinuria     Sarcoidosis
    Diabetes mellitus     Kidney failure     Cerebrovascular accident     Urticaria
    Atherosclerosis     Nephritis     Lung disease     Renal vascular disease
    Nephrotic syndrome     Hyperglycemia     Systemic scleroderma     Diabetic retinopathy
    Anemia     Anuria     Oligohydramnios     Hypokalemia

    Find genes that share disorders with ACE           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ACE gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heart failure 90.4 2092 11835905 (6), 14622625 (6), 16285075 (6), 11723314 (5) (see all 99)
    diabetic nephropathies 86.7 543 19077419 (7), 12016801 (6), 10332539 (5), 9111155 (4) (see all 99)
    essential hypertension 86.5 448 8686957 (4), 9626985 (4), 8076423 (3), 16866021 (3) (see all 99)
    heart failure congestive 86.2 526 8682064 (4), 18458262 (4), 8863101 (3), 7527326 (3) (see all 99)
    renal disease 85.5 960 17506717 (6), 11258145 (5), 12501871 (5), 12570791 (5) (see all 99)
    proteinuria 83.4 467 17984482 (5), 9328608 (4), 9767545 (4), 11007831 (4) (see all 99)
    microalbuminuria 83.1 234 15944842 (7), 15449965 (5), 19720797 (4), 16095545 (4) (see all 99)
    myocardial infarction 82.6 869 10462466 (7), 7606755 (7), 9812182 (5), 8644984 (5) (see all 99)
    angioedema 82.6 431 15111379 (8), 17540310 (7), 10594491 (7), 9530537 (7) (see all 99)
    ventricular dysfunction left 82.5 278 10499559 (4), 8994996 (3), 8095738 (3), 8682064 (3) (see all 99)

    Genetic Association Database (GAD): ACE
    Human Genome Epidemiology (HuGE) Navigator: ACE (1727 documents)

    Export disorders for ACE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACE gene, integrated from 10 sources (see all 7660):
    (articles sorted by number of sources associating them with ACE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural details on the binding of antihypertensive drugs captopril and enalaprilat to human testicular angiotensin I-converting enzyme. (PubMed id 15236580)1, 2, 7, 9 Natesh R.... Acharya K.R. (Biochemistry 2004)
    2. Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. (PubMed id 15534175)1, 2, 4 Casas J.P.... Sharma P. (Arch. Neurol. 2004)
    3. Sequence variation in the human angiotensin converting enzyme. (PubMed id 10319862)1, 2, 3 Rieder M.J.... Nickerson D.A. (Nat. Genet. 1999)
    4. Molecular cloning of human testicular angiotensin-converting enzyme: the testis isozyme is identical to the C-terminal half of endothelial angiotensin-converting enzyme. (PubMed id 2554286)1, 2, 3 Ehlers M.R.W.... Riordan J.F. (Proc. Natl. Acad. Sci. U.S.A. 1989)
    5. Shedding of somatic angiotensin-converting enzyme (ACE) is inefficient compared with testis ACE despite cleavage at identical stalk sites. (PubMed id 10769174)1, 2, 9 Woodman Z.L.... Sturrock E.D. (Biochem. J. 2000)
    6. A genome-wide search replicates evidence of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE) unlinked to the ACE gene. (PubMed id 18544166)1, 4, 9 McKenzie C.A....Cooper R.S. (BMC Med Genomics 2008)
    7. Reduction of pneumonia risk by an angiotensin I-converting enzyme inhibitor in elderly Japanese inpatients according to insertion/deletion polymorphism of the angiotensin I-converting enzyme gene. (PubMed id 16202861)1, 4, 9 Takahashi T....Matsumoto M. (Am. J. Hypertens. 2005)
    8. The influence of mode of delivery and ACE genotype on serum angiotensin converting enzyme (ACE) activity in the mother and infant at term. (PubMed id 17123697)1, 4, 9 Uma R....Murphy D.J. (Eur. J. Obstet. Gynecol. Reprod. Biol. 2007)
    9. Angiotensin I-converting enzyme (ACE) inhibitors and restenosis after coronary artery stenting in patients with the DD genotype of the ACE gene. (PubMed id 12798565)1, 4, 9 Koch W....Kastrati A. (J. Am. Coll. Cardiol. 2003)
    10. Serum angiotensin I-converting enzyme is reduced in Crohn's disease and ulcerative colitis irrespective of genotype. (PubMed id 11569699)1, 4, 9 Matsuda T....Kawakami Y. (Am. J. Gastroenterol. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1636 HGNC: 2707 AceView: ACE Ensembl:ENSG00000159640 euGenes: HUgn1636
    ECgene: ACE Kegg: 1636 H-InvDB: ACE

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ACE Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACE[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ACE

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACE gene:
    Search GeneIP for patents involving ACE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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     Search Addgene for plasmids for ACE
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     genOway: Develop your customized and physiologically relevant rodent model for ACE
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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