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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACE Gene

protein-coding   GIFtS: 71
GCID: GC17P061554

angiotensin I converting enzyme (peptidyl-dipeptidase A)...


(Previous symbol: DCP1)
 Explore 377 diseases affiliated with
ACE via
MalaCards
our new
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Biological research products
for ACE    

Aliases
for ACE gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Angiotensin I Converting Enzyme (Peptidyl-Dipeptidase A) 11 2     Angiotensin Converting Enzyme, Somatic Isoform2
DCP11 2 3 5     Angiotensin I Converting Enzyme Peptidyl-Dipeptidase A 1 Transcript2
ACE11 2 5     Angiotensin-Converting Enzyme2
CD1431 2     Carboxycathepsin1
Dipeptidyl Carboxypeptidase I2 3     Dipeptidyl Carboxypeptidase 12
Kininase II2 3     Peptidase P2
DCP2 3     Testicular ECA2
CD143 Antigen2 3     EC 3.2.1.-3
MVCD32 5     EC 3.4.15.13
ICH2     

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


Summaries
for ACE gene

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

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:
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)

PharmGKB "VIP" summary for ACE


Genomic Views
for ACE gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ACE gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Angiotensin-converting enzyme, soluble form: Secreted
Subcellular location: Cell membrane; Single-pass type I membrane protein
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;
6/18 PDB 3D structures from and Proteopedia for ACE (see all 18):
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

Post-translational modifications:

  • Phosphorylated by CK2 on Ser-1299; which allows membrane retention1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P12821

    • ACE Protein expression data from MOPED and PaxDb:    About this image 
    ACE Protein Expression
    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
    Human Recombinant Protein Products for ACE: 
    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: ACE
    OriGene Protein Over-expression Lysate: 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 ProSpec Recombinant Proteins
    Uscn Proteins for ACE

    Gene Ontology (GO): 7 cellular component terms (GO ID links to tree view) (see first 5):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA4322742
    GO:0005624membrane fraction ----
    GO:0005768endosome IDA17077303
    GO:0005886plasma membrane IDA17077303
    GO:0009897external side of plasma membrane IDA9449382
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    ACE for ontologies           About GeneDecksing



    ACE Antibody Products: 
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    R&D Systems Antibodies for ACE (ACE/CD143)
    OriGene Antibodies: ACE
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    Novus Biologicals ACE Antibodies
    Abcam antibodies for ACE 
    Uscn Antibodies for ACE
    ThermoFisher Antibodies for ACE

    Assay Products for ACE: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    R&D Systems ELISAs for ACE (ACE/CD143)         (see all)
    GenScript ACE-Activity-based Protease Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ACE

    Protein Domains /
    Families
    for ACE gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACE for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001548 Peptidase_M2

    Graphical View of Domain Structure for InterPro Entry P12821

    ProtoNet protein and cluster: P12821

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

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


    Function
    for ACE gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    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
         
    ACE for ontologies           About GeneDecksing


    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  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  renal/urinary system  reproductive system  tumorigenesis 

    ACE for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for ACE: Acetm1Mcf Acetm1Unc Acetm2Unc Acetm1Keb Acetm4Keb Acetm2Keb
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACE 

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): ACE
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACE
    8/9 QIAGEN miScript miRNA 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 plasmid: ACE 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACE (see all 7)
    OriGene shRNA RFP: ACE
    OriGene siRNA: ACE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACE
    Sirion Biotech Custom design and validation of potent shRNA sequences against ACE 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ACE
    Sirion Biotech Customized adenovirus for overexpression of ACE 
    Sirion Biotech Customized adenovirus for potent knockdown of ACE

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACE (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACE (see all 4)
    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
    Search LifeMap BioReagents cell lines for ACE
    Sirion Biotech Customized stable knockdown cell line services for ACE 
    Sirion Biotech Customized inducible knockdown cell line services for ACE
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    Sirion Biotech Customized inducible overexpressing cell line services for ACE

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACE


    Pathways & Interactions
    for ACE gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    		ACE Inhibitor Pathway, Pharmacodynamics1.00
    		ACE Inhibitor Pathway0.85
    		Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics1.00
    2Renin-angiotensin system
    		Renin-angiotensin system1.00
    		Metabolism of Angiotensinogen to Angiotensins0.48
    3Transcription_CREM signaling in testis
    		Transcription_CREM signaling in testis1.00
    4A-beta Uptake & Degradation
    		A-beta Uptake & Degradation1.00
    5Hypertrophic cardiomyopathy (HCM)
    		Hypertrophic cardiomyopathy (HCM)1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 R&D Systems Pathway for ACE
        A-beta Uptake & Degradation

    1 Downloadable PowerPoint Slide of QIAGEN 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

    3        Reactome Pathways for ACE
        Metabolism of Angiotensinogen to Angiotensins
    Metabolism of proteins
    Peptide hormone metabolism

    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)


    ACE for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for ACE (P128213 ENSP000002908664) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    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): 5/26 biological process terms (GO ID links to tree view) (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia ----
    GO:0001822kidney development IMP16116425
    GO:0001974blood vessel remodeling IC1668266
    GO:0002005angiotensin catabolic process in blood IC1668266
    GO:0002019regulation of renal output by angiotensin IC1668266

    ACE for ontologies           About GeneDecksing



    Drugs & Compounds
    for ACE gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACE for compounds           About GeneDecksing

    EMD Millipore small molecules for ACE:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for ACE

    Compounds for ACE available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Angiotensin I (human, mouse, rat) Endogenous precursor to angiotensin II (Cat. No. 1158)[484-42-4]
    Benazepril hydrochlorideAngiotensin-converting enzyme (ACE) inhibitor[86541-74-4]
    Moexipril hydrochlorideAngiotensin-converting enzyme (ACE) inhibitor[82586-52-5]
    CaptoprilACE inhibitor; also inhibits LTA4 hydrolase[62571-86-2]
    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--

    10/16 DrugBank Compounds for ACE (see all 16)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CaptoprilCaptoprilum [INN-Latin] (see all 3)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
    EnalaprilEnalapril Maleate (see all 4)75847-73-3targetinhibitor17618628 16424790 15236580 11752352
    Fosinopril-- 98048-97-6targetinhibitor2836111 11329095 11030016 11752352
    MoexiprilMoexipril HCl (see all 3)103775-10-6targetinhibitor7473177 11929321 11752352 15286086
    Perindopril-- 107133-36-8targetinhibitor16370923 11929321 11752352 19379059
    QuinaprilQuinapril HCl (see all 3)85441-61-8targetinhibitor11929321 11752352 3020249 11817979
    Ramipril-- 87333-19-5targetinhibitor16398929 11929321 11030016 11752352

    10/127 Novoseek 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)

    3 PharmGKB related drug/compound annotations for ACE gene    About this table
    Drug/compound PharmGKB Annotation
    hydrochlorothiazideCA  
    sildenafilCA  
    spironolactoneCA  
    Search CenterWatch for drugs/clinical trials and news about ACE 

    Transcripts
    for ACE gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/25 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
    Products:             		 OriGene 3'-UTR Clone (see all 2): ACE
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACE
    8/9 QIAGEN miScript miRNA 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 plasmid: ACE 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACE (see all 7)
    OriGene shRNA RFP: ACE
    OriGene siRNA: ACE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACE
    Sirion Biotech Custom design and validation of potent shRNA sequences against ACE 
    Clone
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    Additional cDNA 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 

    24/223 AceView cDNA sequences (see all 223):

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

    GeneLoc Exon Structure

    5/14 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

    Expression
    for ACE gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

    ACE expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneBone MarrowHematopoietic Stem CellsBlood
    KidneyProximal TubuleProximal Tubule CellsKidney
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    BrainThird VentricleBrain
    BrainFourth VentricleBrain
    HeartDorsal AortaHeart
    KidneyEpithelial TubuleKidney
    KidneyMetanephrosKidney
    KidneyProximal TubuleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ACE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACE

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ACE: 
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              Diabetes in human mouse rat

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    Assay Products:     
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    Orthologs
    for ACE gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ACE gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ACE1 angiotensin I converting enzyme (peptidyl-dipeptidase more 70.99(n)
    68.28(a)    		   419953  NM_001167732.1  NP_001161204.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ACE6
    		 --
    		 64(a)
    		 1 → many
    		 6(61166678-61223235)
    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 67.07(n)
    65.7(a)    		   565980  XM_689244.5  XP_694336.5 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Ance3 peptidyl-dipeptidase A 44(a)
    (best of 6)    		   2 34E2   --


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

    Paralogs
    for ACE gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    ACE for paralogs           About GeneDecksing



    Genomic Variants
    for ACE gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/613 NCBI SNPs in ACE are shown (see all 613)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs780419351,2
    		F--56921425(+) TAGTGC/ATAGGG 1 -- us2k11Minor allele frequency- A:0.50NA 4
    rs739921331,2
    		C--56921604(+) ACCATC/GCCCCA 1 -- us2k12Minor allele frequency- G:0.04WA 120
    rs794778311,2
    		F--56921921(+) CAGGGG/AAGTGT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs42911,2
    		C,F,H--56922553(+) TCTTCA/TAAAGA 1 -- us2k18Minor allele frequency- T:0.37EA NA NS WA 1366
    rs11109911,2
    		C--56922859(+) ctgccG/Cctgcc 2 /P syn1 ese31Minor allele frequency- C:0.00NS 534
    rs72112071,2
    		C,A--56923272(+) TGAGGG/CTGGCT 1 -- int12Minor allele frequency- C:0.31WA 120
    rs98965511,2
    		C--56923541(+) CCCGGG/TCTCTG 1 -- int14Minor allele frequency- T:0.02NA 184
    rs37296591,2
    		C,F--56923812(+) AAGCGG/TCAGCA 2 R syn1 ese31Minor allele frequency- T:0.00NA 2772
    rs127094171,2
    		C,F--56923950(+) GCCCAG/AGTAAG 1 -- int12Minor allele frequency- A:0.02--184
    rs127094181,2
    		C,F--56923987(+) TTTTCT/CTGGAG 1 -- int13Minor allele frequency- C:0.04WA 302

    HapMap Linkage Disequilibrium report for ACE (61554422 - 61599205 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ACE
         1 CNV: 10518
    Human Gene Mutation Database (HGMD): ACE

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    Disorders / Diseases
    for ACE gene

    (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
    ACE for disorders           About GeneDecksing

    OMIM gene information: 106180   
    OMIM disorders: 104300  612624  267430  
    UniProtKB/Swiss-Prot: ACE_HUMAN, P12821
  • Genetic variations in ACE may be a cause of susceptibility to ischemic stroke (ISCHSTR) [MIM:601367]; also
    • known as cerebrovascular accident or cerebral infarction. 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
  • Defects in ACE are a cause of renal tubular dysgenesis (RTD) [MIM:267430]. RTD is an 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)
  • Genetic variations in ACE are associated with susceptibility to microvascular complications of diabetes type 3
    • (MVCD3) [MIM:612624]. These are 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
  • Defects in ACE are a cause of susceptibility to 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

    20/377 diseases for ACE (see all 377):    About MalaCards
    angiotensin i-converting enzyme, benign serum increase    hypertension    carotid intimal medial thickness    nephropathy
    open-angle glaucoma    novelty seeking personality    aldosteronism    arrhythmogenic right ventricular dysplasia
    sprinting performance    hyporeninemic hypoaldosteronism    renal tubular dysgenesis    normal pressure hydrocephalus
    steroid-resistant nephrotic syndrome    high blood pressure    cough variant asthma    arterial calcification of infancy
    generalized arterial calcification of infancy    myocardial infarction    microvascular complications of diabetes 3    mitral valve prolapse

    20/23 diseases from the University of Copenhagen DISEASES database for ACE (see all 23):
    Hypertension     Heart disease     Proteinuria     Diabetes mellitus
    Sarcoidosis     Kidney failure     Cerebrovascular accident     Urticaria
    Atherosclerosis     Nephritis     Lung disease     Renal vascular disease
    Nephrotic syndrome     Hyperglycemia     Systemic scleroderma     Diabetic retinopathy
    Anemia     Anuria     Hypokalemia     Oligohydramnios

    10/97 Novoseek 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

    Publications
    for ACE gene

    (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)
    About This Section

    PubMed articles for ACE gene, integrated from 9 sources (see all 7503):
    (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. (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. (2004)
    3. Sequence variation in the human angiotensin converting enzyme. (PubMed id 10319862)1, 2, 3 Rieder M.J.... Nickerson D.A. (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. (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. (2000)
    6. CK2 phosphorylates the angiotensin-converting enzyme and regulates its retention in the endothelial cell plasma membrane. (PubMed id 12386153)1, 2, 9 Kohlstedt K.... Fleming I. (2002)
    7. Neutral endopeptidase and angiotensin I converting enzyme insertion/deletion gene polymorphism in humans. (PubMed id 14730327)1, 4, 9 Jalil J.E....Lavandero S. (2004)
    8. Hypertension after renal transplantation and polymorphism of genes involved in essential hypertension: ACE, AGT, AT1 R and ecNOS. (PubMed id 11926202)1, 4, 9 Basset e.l.-.E.A....Berthou F. (2002)
    9. The DD genotype of the ACE gene polymorphism is associated with diabetic nephropathy in the type-1 diabetics. (PubMed id 11428725)1, 4, 9 Azar S.T....Halabi G. (2001)
    10. A novel angiotensin-converting enzyme-related carboxypeptidase (ACE2) converts angiotensin I to angiotensin 1-9. (PubMed id 10969042)1, 2, 9 Donoghue M.... Acton S. (2000)

    External Searches for ACE gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ACE gene

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

    Other Databases showing ACE gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACE gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACE Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACE
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ACE

    Intellectual Property
    for ACE gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
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    About This Section

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     SwitchGear Promoter luciferase reporter plasmids for ACE
     ThermoFisher Antibodies for ACE
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACE
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACE
    Sirion Biotech Customized:
     stable knockdown cell line services for ACE
     inducible knockdown cell line services for ACE
     design and validation of potent shRNA sequences against ACE
     adenovirus for potent knockdown of ACE
     adenovirus for overexpression of ACE
     stable overexpressing cell line services for ACE
     inducible overexpressing cell line services for ACE
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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