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CYP19A1 Gene

protein-coding   GIFtS: 70
GCID: GC15M051500

Cytochrome P450, Family 19, Subfamily A, Polypeptide 1

(Previous names: cytochrome P450, subfamily XIX (aromatization of androgens))
(Previous symbol: CYP19)
  See 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
Cytochrome P450, Family 19, Subfamily A, Polypeptide 11 2     ARO2 5
CYP191 2 3 5     CPV12
Cytochrome P450, Subfamily XIX (Aromatization Of Androgens)1 2     P-450AROM2
Cytochrome P-450AROM2 3     aromatase2
Cytochrome P450 19A12 3     Estrogen Synthetase2
Estrogen Synthase2 3     Flavoprotein-Linked Monooxygenase2
ARO12 3     Microsomal Monooxygenase2
CYAR2 3     EC 1.14.14.143
CYPXIX2 3     EC 1.14.14.18

External Ids:    HGNC: 25941   Entrez Gene: 15882   Ensembl: ENSG000001378697   OMIM: 1079105   UniProtKB: P115113   

Export aliases for CYP19A1 gene to outside databases

Previous GC identifers: GC15M044547 GC15M049080 GC15M049217 GC15M049288 GC15M028330


(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 CYP19A1 Gene:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are
monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids
and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen
biosynthesis, three successive hydroxylations of the A ring of androgens. Mutations in this gene can result in
either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both
as a sex steroid hormone and in growth or differentiation. The gene expresses two transcript variants. (provided
by RefSeq, Jul 2008)

GeneCards Summary for CYP19A1 Gene:
CYP19A1 (cytochrome P450, family 19, subfamily A, polypeptide 1) is a protein-coding gene. Diseases associated with CYP19A1 include estrogen excess, and aromatase excess syndrome. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP11B1.

UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511
Function: Catalyzes the formation of aromatic C18 estrogens from C19 androgens

summary for CYP19A1 Gene:
Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs
are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane.
CYPs have oxygenase activity and commonly catalyze redox reactions, involving the oxidation of the substrate
and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential
for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They
are found at high levels in the liver, where they have an important role in metabolism of drugs and
endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this
accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis,
cholesterol synthesis and vitamin D metabolism.

Gene Wiki entry for CYP19A1 (Aromatase) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP19A1 gene promoter:
         PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CYP19A1 promoter sequence
   Search Chromatin IP Primers for CYP19A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP19A1


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

Entrez Gene cytogenetic band: 15q21.1   Ensembl cytogenetic band:  15q21.2   HGNC cytogenetic band: 15q21

CYP19A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP19A1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M051500:  view genomic region     (about GC identifiers)

Start:
51,500,254 bp from pter      End:
51,630,807 bp from pter
Size:
130,554 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511 (See protein sequence)
Recommended Name: Aromatase  
Size: 503 amino acids; 57883 Da
Cofactor: Heme group
Selected PDB 3D structures from and Proteopedia for CYP19A1 (see all 7):
1TQA (3D)        3EQM (3D)        3S79 (3D)        3S7S (3D)        4GL5 (3D)        4GL7 (3D)    
Secondary accessions: Q16731 Q3B764 Q58FA0

Explore the universe of human proteins at neXtProt for CYP19A1: NX_P11511

Explore proteomics data for CYP19A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CYP19A1 (P11511) (see all 27)
     TSSIPGP  GIGPLIS  RYFQPFG  IAMVMMK 


    See CYP19A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000094.2  NP_112503.1  

    ENSEMBL proteins: 
     ENSP00000379683   ENSP00000379685   ENSP00000453149   ENSP00000452667   ENSP00000454004  
     ENSP00000390614   ENSP00000454039   ENSP00000453280   ENSP00000391139   ENSP00000383930  
     ENSP00000452627   ENSP00000452872   ENSP00000384389   ENSP00000453318   ENSP00000260433  
    Reactome Protein details: P11511

    CYP19A1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CYP19A1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CYP19A1
    GenScript Custom Purified and Recombinant Proteins Services for CYP19A1
    Novus Biologicals CYP19A1 Proteins
    Novus Biologicals CYP19A1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    CYP19A1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CYP19A1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for CYP19A1 
    OriGene Antibodies for CYP19A1
    OriGene Custom Antibody Services for CYP19A1
    Novus Biologicals CYP19A1 Antibodies
    Abcam antibodies for CYP19A1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CYP19A1
    LSBio Antibodies in human, mouse, rat for CYP19A1

    CYP19A1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CYP19A1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CYP19A1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP19A1
    CYP11, CYP17, CYP19, CYP20 and CYP21 families

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry P11511

    ProtoNet protein and cluster: P11511

    UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511
    Similarity: Belongs to the cytochrome P450 family


    CYP19A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP19A_HUMAN, P11511
    Function: Catalyzes the formation of aromatic C18 estrogens from C19 androgens
    Catalytic activity: Testosterone + 3 O(2) + 3 reduced flavoproteins = 17-beta-estradiol + formate + 4 H(2)O + 3
    oxidized flavoproteins
    Catalytic activity: Androst-4-ene-3,17-dione + 3 O(2) + 3 reduced flavoproteins = estrone + formate + 4 H(2)O + 3
    oxidized flavoproteins

         Enzyme Numbers (IUBMB): EC 1.14.14.141 EC 1.14.14.12

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0009055electron carrier activity TAS2848247
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0016712oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen TAS1371509
    GO:0019825oxygen binding TAS2848247
         
    CYP19A1 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cyp19a1) (see all 18):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  muscle  nervous system  normal 

    CYP19A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CYP19A1: Cyp19a1tm1Toda Cyp19a1tm1Esi Cyp19a1tm1Sih

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP19A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CYP19A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYP19A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYP19A1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CYP19A1:
    hsa-mir-19b-3p (MIRT007271), hsa-mir-335-5p (MIRT017035), hsa-mir-106a-5p (MIRT007270), hsa-let-7f-5p (MIRT006943)

    Block miRNA regulation of human, mouse, rat CYP19A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CYP19A1 (see all 20):
    hsa-let-7d hsa-miR-539 hsa-miR-219-5p hsa-let-7c hsa-miR-105 hsa-miR-3605-5p hsa-let-7g hsa-miR-515-5p
    SwitchGear 3'UTR luciferase reporter plasmidCYP19A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CYP19A1
    Predesigned siRNA for gene silencing in human, mouse, rat CYP19A1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CYP19A1

    Clone
    Products:
         
    OriGene clones in human, mouse for CYP19A1 (see all 12)
    OriGene ORF clones in mouse, rat for CYP19A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CYP19A1 (NM_031226)
    Sino Biological Human cDNA Clone for CYP19A1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP19A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP19A1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CYP19A1
    Browse ESI BIO Cell Lines and PureStem Progenitors for CYP19A1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP19A1


    (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
    CP19A_HUMAN, P11511: Membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    nucleus2
    cytosol1
    extracellular1
    lysosome1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane TAS2848247

    CYP19A1 for ontologies           About GeneDecksing


    (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 CYP19A1 About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    cytochrome P4500.74
    Phase 1 - Functionalization of compounds0.75
    Endogenous sterols0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    4Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics
    Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics
    Estrogen biosynthesis0.00
    5superpathway of steroid hormone biosynthesis
    estradiol biosynthesis II0.00
    estradiol biosynthesis I0.00
    superpathway of steroid hormone biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for CYP19A1
        Estrogen biosynthesis
    Transcription Role of VDR in regulation of genes involved in osteoporosis

    Selected BioSystems Pathways for CYP19A1 (see all 9)
        cytochrome P450
    Integrated Breast Cancer Pathway
    Ovarian Infertility Genes
    superpathway of steroid hormone biosynthesis
    FSH signaling pathway


    2 Reactome Pathways for CYP19A1
        Endogenous sterols
    Estrogen biosynthesis

    3 PharmGKB Pathways for CYP19A1
        Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics
    Aromatase Inhibitor Pathway (Multiple Tissues), Pharmacodynamics
    Estrogen Metabolism Pathway

    3 Kegg Pathways  (Kegg details for CYP19A1):
        Steroid hormone biosynthesis
    Metabolic pathways
    Ovarian steroidogenesis


    CYP19A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP19A1: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              Estrogen Receptor Signaling in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Drug Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP19A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CYP19A1 (P115112, 3 ENSP000002604334) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCGO152873, ENSP000003679104I2D: score=2 STRING: ENSP00000367910
    ATP6V1B2P212812, ENSP000002763904MINT-4054731 STRING: ENSP00000276390
    A2MP010232MINT-4054731
    ACTBP607092MINT-4054731
    ALPPP051872MINT-4054731
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006694steroid biosynthetic process TAS2848247
    GO:0006703estrogen biosynthetic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008202steroid metabolic process TAS--
    GO:0008209androgen metabolic process IEA--

    CYP19A1 for ontologies           About GeneDecksing



    (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 CYP19A1
      Browse compounds at ApexBio 

    Compounds for CYP19A1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PF 4981517Selective CYP3A4 inhibitor[1390637-82-7]
    MethoxyresorufinFluorometric CYP450 substrate[5725-89-3]
    Letrozole Potent, reversible non-steroidal aromatase inhibitor [112809-51-5]
    ExemestaneSteroidal aromatase (CYP19) inhibitor[107868-30-4]
    PentoxyresorufinFluorometric cytochrome P450 substrate[87687-03-4]

    Selected HMDB Compounds for CYP19A1 (see all 51)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Androstenedione(4)-Androsten-3,17-dione (see all 14)63-05-815800924
    10-HETE10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate (see all 2)167697-52-1--
    11,12,15-THETA11,12,15-Trihydroxyicosatrienoic acid (see all 5)----
    11,12-Epoxyeicosatrienoic acid10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid (see all 15)81276-02-0--
    11,14,15-THETA(5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid (see all 8)----
    11H-14,15-EETA14,15-Ep-11-HETrE (see all 11)219535-29-2--
    11beta-Hydroxytestosterone11beta,17beta-dihydroxyandrost-4-en-3-one 1816-85-9--
    12,13-EpOMEVernolic acid (see all 12)----
    13-HETE13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate (see all 2)151910-72-4--
    14,15-Epoxy-5,8,11-eicosatrienoic acid(5Z,8Z,11Z)-14,15-Epoxyicosa-5.8.11-trienoic acid (see all 11)81276-03-1--

    Selected DrugBank Compounds for CYP19A1 (see all 42)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Anastrozole-- 120511-73-1targetinhibitor19389994 18073378 16439860 17693420 16034487 19753124 19794821 11752352 19470631
    enzymeinhibitor19389994 18073378 16439860 17693420 16034487 19753124 19794821 11752352 19470631 19934256
    ExemestaneExemestano [INN-Spanish] (see all 2)107868-30-4targetinhibitor20360896 19930708 19337436 15814851 19436613 11752352 18728707 19156139 17020418
    enzymeinhibitor20360896 19930708 19337436 15814851 19436613 11752352 18728707 19156139 17020418 19934256
    AminoglutethimideDl-Aminoglutethimide (see all 2)125-84-8targetinhibitor17139284 11752352 16244789 17016423 17602675 16332571 16474421
    Letrozole-- 112809-51-5targetantagonist15026471 10388095 11752352 14505258
    enzymesubstrate inhibitor15026471 10388095 11752352 14505258 11752352 19934256
    TestolactoneTestolactona [INN-Spanish] (see all 3)968-93-4targetinhibitor11792932 16766117 16190763 11752352 9521275
    Edetic AcidCaEDTA (see all 8)62-33-9enzymesubstrate18499441 12392814 9418012 2546553
    Chlorphenesinalpha-Glyceryl ether (see all 7)104-29-0enzymeinducer16077170 15070871
    Betamethasone-- 378-44-9enzymesubstrate inducer19934256
    Bifonazole(+-)-1-(p,alpha-Diphenylbenzyl)imidazole (see all 9)60628-96-8enzymeinhibitor19934256
    Buserelin-- 57982-77-1enzymeinducer19934256

    Selected Novoseek inferred chemical compound relationships for CYP19A1 gene (see all 135)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anastrozole 98 518 11900212 (4), 16263272 (4), 9522927 (4), 11850214 (3) (see all 99)
    letrozole 97.9 509 16263272 (4), 9878997 (4), 9556790 (4), 11854020 (4) (see all 99)
    exemestane 97.5 354 14501171 (4), 17079446 (4), 9797017 (3), 11850214 (3) (see all 99)
    tamoxifen 95.4 1243 18448280 (9), 18445827 (6), 19593135 (6), 15598941 (6) (see all 99)
    formestane 95 171 9797017 (3), 7781147 (3), 2185341 (2), 1637664 (2) (see all 99)
    estrogen 94.1 2244 19800101 (7), 11850220 (6), 10851574 (5), 17962916 (5) (see all 99)
    aminoglutethimide 93.5 204 10470147 (5), 16244789 (5), 2353556 (4), 9831487 (3) (see all 99)
    androstenedione 91.4 275 8476772 (6), 1827700 (4), 8425476 (3), 11916223 (2) (see all 99)
    vorozole 91 80 9797019 (7), 8730654 (4), 16714371 (3), 10845274 (3) (see all 38)
    estrone 90.7 171 15456920 (5), 8476770 (3), 10731634 (2), 15483104 (2) (see all 99)

    1 PharmGKB related drug/compound annotation for CYP19A1 gene    About this table
    Drug/compound PharmGKB Annotation
    letrozoleCA  



    CYP19A1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for CYP19A1 gene (2 alternative transcripts): 
    NM_000103.3  NM_031226.2  

    Unigene Cluster for CYP19A1:

    Cytochrome P450, family 19, subfamily A, polypeptide 1
    Hs.260074  [show with all ESTs]
    Unigene Representative Sequence: NM_031226
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000396402(uc001zza.4) ENST00000396404 ENST00000559878 ENST00000490076
    ENST00000559653 ENST00000557934 ENST00000439712(uc001zzb.2 uc010bey.1)
    ENST00000558066 ENST00000561075 ENST00000558328 ENST00000478421(uc001zzc.1)
    ENST00000453807 ENST00000405913(uc001zzd.3) ENST00000557858 ENST00000559980
    ENST00000405011 ENST00000559646(uc001zze.2) ENST00000561066
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CYP19A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CYP19A1 (see all 20):
    hsa-let-7d hsa-miR-539 hsa-miR-219-5p hsa-let-7c hsa-miR-105 hsa-miR-3605-5p hsa-let-7g hsa-miR-515-5p
    SwitchGear 3'UTR luciferase reporter plasmidCYP19A1 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat CYP19A1
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    OriGene ORF clones in mouse, rat for CYP19A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CYP19A1 (NM_031226)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP19A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP19A1
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    OriGene qPCR primer pairs and template standards for CYP19A1
    OriGene qSTAR qPCR primer pairs in human, mouse for CYP19A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CYP19A1
      QuantiTect SYBR Green Assays in human, mouse, rat CYP19A1
      QuantiFast Probe-based Assays in human, mouse, rat CYP19A1

    Additional mRNA sequence: 

    AK291778.1 BC020767.1 BC022896.1 BC035714.1 BC035959.1 BC056258.1 BC107785.1 DQ118405.1 
    J04127.1 M18856.1 M22246.1 M28420.1 S52789.1 S52793.1 S52794.1 S58866.1 
    S85075.1 S96437.1 X13589.1 XR_132592.1 XR_159249.1 XR_172082.1 Y07508.1 

    Selected DOTS entries (see all 64):

    DT.449261  DT.100676727  DT.95300279  DT.101970966  DT.100869537  DT.91861766  DT.100854649  DT.121057178 
    DT.100676716  DT.121057258  DT.121057260  DT.91787024  DT.303062  DT.100676725  DT.100676720  DT.121057024 
    DT.121056960  DT.121057151  DT.40215192  DT.70102672  DT.121057217  DT.70101056  DT.91783279  DT.95249508 

    Selected AceView cDNA sequences (see all 577):

    BC020767 CR610414 BG572661 CR621023 H93307 R32427 CF528204 BU751802 
    N32432 BX361525 BG621317 CR617751 BX397440 CR594831 AL541360 BG434800 
    H03577 D79084 BG436013 CR591944 BG572865 AL541373 BU751727 BC035714 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CYP19A1 (see all 12)    About this scheme

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

    ExUns: 17
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CYP19A1

    (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)
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    CYP19A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CYP19A1 Expression
    About this image


    CYP19A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Mature Granulosa Cells Antral Follicle
             Mature follicles
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Amygdala
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Gonad (Reproductive System)
             Fetal Gonadal Stromal Cell
     
     Placenta (Extraembryonic Tissues)
    CYP19A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP19A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.260074

    UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511
    Tissue specificity: Brain, placenta and gonads

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP19A1: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              Estrogen Receptor Signaling in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Drug Metabolism in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat CYP19A1
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP19A1

    (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 CYP19A1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp19a11 , 5 cytochrome P450, family 19, subfamily a, polypeptide more1, 5 81.38(n)1
    79.32(a)1
      9 (29.49 cM)5
    130751  NM_007810.31  NP_031836.11 
     541659375 
    chicken
    (Gallus gallus)
    Aves CYP19A11 cytochrome P450, family 19, subfamily A, polypeptide more 71.75(n)
    72.09(a)
      414854  NM_001001761.1  NP_001001761.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYP19A16
    cytochrome P450, family 19, subfamily A, polypepti...
    72(a)
    1 ↔ 1
    GL343330.1(545272-559023)
    African clawed frog
    (Xenopus laevis)
    Amphibia p450arom-A2 aromatase 72.95(n)    AB031278.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF183908.12   -- 71.69(n)   60640  AF183908.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp310a16
    Cyp310a1
    15(a)
    1 → many
    2L(18651058-18652999)


    ENSEMBL Gene Tree for CYP19A1 (if available)
    TreeFam Gene Tree for CYP19A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP19A1 gene
    CYP11B12  CYP24A12  CYP46A12  CYP11B22  CYP27B12  CYP11A12  CYP27A12  CYP27C12  
    9 SIMAP similar genes for CYP19A1 using alignment to 14 protein entries:     CP19A_HUMAN (see all proteins):
    CYP19    CYP2C9    CYP3A43    CYP2U1    CYP2E1    CYP3A4
    CYP2D6    CYP2R1    CYP3A5

    CYP19A1 for paralogs           About GeneDecksing



    (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 CYP19A1 (see all 2178)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0169644
    Aromatase deficiency (AROD)4--see VAR_0169642 R C mis40--------
    VAR_0169654
    Aromatase deficiency (AROD)4--see VAR_0169652 C Y mis40--------
    VAR_0169624
    Aromatase deficiency (AROD)4--see VAR_0169622 R Q mis40--------
    VAR_0169634
    Aromatase deficiency (AROD)4--see VAR_0169632 R C mis40--------
    rs783103151,2
    Cpathogenic131569640(+) CTGCAC/TAGCCA 4 Y C mis10--------
    rs800515191,2
    Cpathogenic131571119(+) GGTACC/TGCATG 4 Q R mis10--------
    rs32174221,2
    C,F--28330806(+) TCAAA-/TATGTG 2 -- ut315Minor allele frequency- T:0.40NS 184
    rs672586001,2
    C--28330808(+) CAAAA-/TTGTGT 2 -- ut310--------
    rs556421331,2
    C--28348395(+) AAAAA-/A/AA  
            
    GCAAA
    2 -- int11NA 2
    rs288920051,2
    C,F--28350027(-) ATCTTCTT/-TTTTG 2 -- cds15Minor allele frequency- -:0.28NS 186

    HapMap Linkage Disequilibrium report for CYP19A1 (51500254 - 51630807 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CYP19A1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2433892CNV Deletion19546169
    esv2675752CNV Deletion23128226
    esv2674047CNV Deletion23128226
    esv1648684CNV Insertion17803354
    nsv9265CNV Loss18304495
    esv25817CNV Loss19812545
    nsv904214CNV Gain21882294
    nsv471243CNV Gain18288195
    esv34532CNV Gain17911159
    nsv904215CNV Gain21882294

    The Human Cytochrome P450 Allele Nomenclature Database: CYP19A1 
    Human Gene Mutation Database (HGMD): CYP19A1
    Locus Specific Mutation Databases (LSDB): CYP19A1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP19A1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP19A1

    (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: 107910   
    OMIM disorders: 613546  139300  
    UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511
  • Aromatase excess syndrome (AEXS) [MIM:139300]: An autosomal dominant disorder characterized by increased
    extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual
    precocity in females. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Aromatase deficiency (AROD) [MIM:613546]: A rare disease in which fetal androgens are not converted into
    estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously
    resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of
    extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary
    amenorrhoea with multicystic ovaries. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for CYP19A1 (see all 151):    
    About MalaCards
    estrogen excess    aromatase excess syndrome    aromatase deficiency    leydig cell tumor
    testotoxicosis    hypoactive sexual desire disorder    endometriosis    gynecomastia
    progesterone-receptor positive breast cancer    uterine disease    precocious puberty, male    choriocarcinoma
    testicular leydig cell tumor    androgen insensitivity syndrome    gender identity disorder    complete androgen insensitivity syndrome
    mixed epithelial stromal tumour    benign metastasizing leiomyoma    ovarian disease    cortisol resistance

    4 diseases from the University of Copenhagen DISEASES database for CYP19A1:
    Breast cancer     Endometriosis     Gynecomastia     Ovarian disease

    CYP19A1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CYP19A1 gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 92.3 2440 10731105 (7), 17020418 (6), 20352486 (6), 15814851 (6) (see all 99)
    breast cancer metastatic 84.1 114 9786093 (3), 11129731 (3), 16940812 (3), 9350235 (2) (see all 89)
    endometrial cancer 74.8 118 8476761 (5), 17404019 (5), 15846217 (4), 15788666 (4) (see all 57)
    endometriosis 74.1 257 8550748 (5), 20430665 (5), 18048499 (5), 10593363 (4) (see all 99)
    gynecomastia 71.9 46 16392624 (4), 18426832 (4), 8768875 (3), 10731125 (3) (see all 29)
    breast carcinoma 67.5 150 18622573 (6), 18480557 (5), 8603035 (3), 8923858 (3) (see all 83)
    virilization 67.1 21 10599737 (2), 18804292 (2), 9300203 (1), 8200927 (1) (see all 18)
    bone loss 66 82 18515009 (5), 19709826 (4), 16844441 (3), 18068489 (3) (see all 59)
    cancer recurrence 65.6 5 19593135 (1), 17145349 (1), 17393300 (1), 16198568 (1) (see all 5)
    endocrine cancer 64.5 2 20374026 (1), 15822681 (1)

    Genetic Association Database (GAD): CYP19A1
    Human Genome Epidemiology (HuGE) Navigator: CYP19A1 (262 documents)

    Export disorders for CYP19A1 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 CYP19A1 gene, integrated from 10 sources (see all 2867):
    (articles sorted by number of sources associating them with CYP19A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CYP19 (aromatase) haplotypes and endometrial cancer risk. (PubMed id 15800924)1, 4, 6, 9 Paynter R.A....De Vivo I. (Int. J. Cancer 2005)
    2. Functional genetic polymorphisms in the aromatase gene CYP19 vary the response of breast cancer patients to neoadjuvant therapy with aromatase inhibitors. (PubMed id 20048079)1, 4, 9 Wang L....Ingle J.N. (Cancer Res. 2010)
    3. The T/C polymorphism of the CYP17 gene and G/A polymorphism of the CYP19 gene in endometrial cancer. (PubMed id 17167982)1, 4, 9 Szyllo K....Kulig B. (amp 2006)
    4. Association of aromatase and estrogen receptor gene polymorphisms with hip fractures. (PubMed id 17962916)1, 4, 9 Valero C....Riancho J.A. (Osteoporos Int 2008)
    5. The polymorphisms of the CYP17 and CYP19 genes in endometrial cancer patients. (PubMed id 16739881)1, 4, 9 SzyA8A8o K....Kulig A. (Pol J Pathol 2006)
    6. The association between genetic polymorphisms in CYP19 and breast cancer risk in Korean women. (PubMed id 19639193)1, 4, 9 Kim J.Y....Yoon K.S. (Oncol. Rep. 2009)
    7. BRCA1 breast cancer risk is modified by CYP19 polymorphisms in Ashkenazi Jews. (PubMed id 19366906)1, 4, 9 Raskin L....Rennert G. (amp 2009)
    8. [Relationship between estrogen-biosynthesis gene (CYP17, CYP19, HSD17beta1) polymorphisms and breast cancer]. (PubMed id 20193327)1, 4, 9 Wang Y.P....Guo J. (Zhonghua Zhong Liu Za Zhi 2009)
    9. Association between gynecomastia and aromatase (CYP19) polymorphisms. (PubMed id 18426832)1, 4, 9 Czajka-Oraniec I....Ostrowski J. (Eur. J. Endocrinol. 2008)
    10. Genetic polymorphisms of the CYP19A1 gene and breast cancer survival. (PubMed id 17119036)1, 4, 9 Long J.R....Zheng W. (amp 2006)

    (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: 1588 HGNC: 2594 AceView: CYP19A1 Ensembl:ENSG00000137869 euGenes: HUgn1588
    ECgene: CYP19A1 Kegg: 1588 H-InvDB: CYP19A1

    (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 CYP19A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CYP19A1 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Aromatase
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CYP19A1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cyp19a1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP19A1 gene:
    Search GeneIP for patents involving CYP19A1

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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