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CYP19A1 Gene

protein-coding   GIFtS: 64

GC15M051500
cytochrome P450, family 19, subfamily A, polypeptide 1
(Previous names: cytochrome P450, subfamily XIX (aromatization of androgens) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CYP19)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases & Descriptions
cytochrome P450, family 19, subfamily A, polypeptide 11 2     Estrogen synthase2 3
ARO11 2 3     CYPXIX2 3
CYAR1 2 3     flavoprotein-linked monooxygenase2
ARO1 2 5     MGC1043092
CYP192 3 5     cytochrome P450 19A12
cytochrome P450, subfamily XIX (aromatization of androgens)1 2     microsomal monooxygenase2
P-450AROM1 2     estrogen synthetase2
aromatase1 2     Aromatase3
CPV11 2     EC 1.14.14.13
Cytochrome P-450AROM2 3     

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

Search outside databases for aliases for CYP19A1 gene

Previous GC identifers: GC15M044547 GC15M049080 GC15M049217 GC15M049288

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CYP19A1:
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)

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

"" summary for CYP19A1:
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)
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the CYP19A1 gene upstream (promoter) region "":
NF-kappaB1   C/EBPbeta   C/EBPalpha   GR-alpha   GR-beta   YY1   GATA-2   PPAR-gamma2   PPAR-gamma1   Egr-1   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for CYP19A1:  ""
MePH19227-2A   

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)
""

GeneLoc gene densities for 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
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511 (See protein sequence)
Recommended Name: Cytochrome P450 19A1  
Size: 503 amino acids; 57883 Da
Cofactor: Heme group
Subcellular location: Membrane; Peripheral membrane protein
PDB structure from "" and Proteopedia "" :
1TQA (3D) ""    3EQM (3D) ""    
Secondary accessions: Q16731 Q3B764 Q58FA0

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000391975 ENSP00000379685 ENSP00000260433 ENSP00000379683 ENSP00000391139 ENSP00000384389 
    ENSP00000383930 ENSP00000390614 


    Human Recombinant Proteins 
    ""Browse Purified and Recombinant Proteins at Millipore
    ""Browse Human Recombinant Proteins at Sigma-Aldrich
    "" Browse R&D Systems for human recombinant proteins
    ""Enzo Life Sciences proteins for CYP19A1
    ""HuPro® and/or Recombinant Proteins from Abnova for CYP19A1 ""
    ""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
    ""Novus Biologicals Proteins for CYP19A1  ""
    Novus Biologicals Lysate for CYP19A1
    ""Browse Sino Biological Recombinant Proteins  ""

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624 membrane fraction TAS2848247
    GO:0005783 endoplasmic reticulum IDA11256614
    GO:0016020 membrane IEA--
    GO:0019898 extrinsic to membrane ----
    About this table

    "" CYP19A1 for ontologies           About GeneDecksing



    Antibodies for CYP19A1: 
    ""Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    ""Sigma-Aldrich Antibodies for CYP19A1
    "" Browse R&D Systems for Antibodies
    ""Monoclonal and Polyclonal Antibodies from Abnova (CYP19A1)
    "" Origene Antibodies (see all 2): CYP19A1 ""
    ""Novus Biologicals Antibodies for CYP19A1
    ""Browse antibodies at Epitomics

    Assays for CYP19A1: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Enzo Life Sciences assays for CYP19A1

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

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    "" CYP19A1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001128 Cyt_P450
     IPR017973 Cyt_P450_C
     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

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

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    Inhib.
    RNA:
    ""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (CYP19A1)
    "" Origene 29mer shRNA kits in GFP-retroviral vector: CYP19A1
    Origene shRNA RFP: CYP19A1
    Origene basic RS shRNA: CYP19A1

    ""Applied Biosystems Silencer® siRNAs for CYP19A1
    ""Sigma-Aldrich siRNA Panels and siRNA for CYP19A1
    Sigma-Aldrich shRNA for CYP19A1
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector (see all 2): CYP19A1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CYP19A1
    Origene untagged cDNA clones in CMV expression vector (see all 2): CYP19A1
    ""Browse Sino Biological Human cDNA Clones  ""

    UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511
    Function: Catalyzes the formation of aromatic C18 estrogens from C19 androgens
    Catalytic activity: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O
    Enzyme Number (IUBMB): EC 1.14.14.1 

    5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497 monooxygenase activity ----
    GO:0005506 iron ion binding ----
    GO:0009055 electron carrier activity TAS2848247
    GO:0016712 oxidoreductase 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:0019825 oxygen binding TAS2848247
    About this table

    "" CYP19A1 for ontologies           About GeneDecksing

    Animal Models: 15/18 MGI mutant phenotypes (inferred from 4 alleles""(MGI details for Cyp19a1) (see all 18 ):

    adipose tissuebehavior/neurologicalcardiovascular systemcellularendocrine/exocrine gland
    growth/sizehearing/vestibular/earhematopoietic systemhomeostasis/metabolismimmune system
    liver/biliary systemmusclenervous systemnormalpigmentation

    "" CYP19A1 for phenotypes           About GeneDecksing

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

      User Feedback

    "" CYP19A1 for pathways           About GeneDecksing

    2 "" Millipore Pathways for CYP19A1
      ""  Transcription Role of VDR in regulation of genes involved in osteoporosis
    Estrogen biosynthesis

    5/8 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  CYP19A1  (Your Favorite Gene powered by Ingenuity) (see all 8 )
      ""  Metabolism of Xenobiotics by Cytochrome P450
    Linoleic Acid Metabolism
    FXR/RXR Activation
    Fatty Acid Metabolism
    Tryptophan Metabolism

    2 "" Kegg Pathways  (Kegg details for CYP19A1):
      ""  hsa00140 Steroid hormone biosynthesis
    hsa01100 Metabolic pathways

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP19A1

    5/53 Interacting proteins for CYP19A1 (ENSP000002604333 P115112) via UniProtKB, MINT, and/or STRING (see all 53 ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    A2MP010232MINT-4054731
    ACTBP607092MINT-4054731
    ALPPP051872MINT-4054731
    APODP050902MINT-4054731
    ARL8BQ9NVJ22MINT-4054731
    About this table

    4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006694 steroid biosynthetic process EXP15583024
    GO:0008209 androgen metabolic process ----
    GO:0055114 oxidation reduction IEA--
    GO:0060736 prostate gland growth ----
    About this table

    "" CYP19A1 for ontologies           About GeneDecksing


    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

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    "" CYP19A1 for compounds           About GeneDecksing

    "" Enzo Life Sciences drugs & compounds for CYP19A1
    ""Sigma-Aldrich Small Molecules for CYP19A1:
    Small Molecule - Inhibitor Small Molecule - Ligand

    "" Compounds for CYP19A1 available from Tocris Bioscience
    CompoundAction CAS number
    YM 511Potent aromatase (CYP19) inhibitor[148869-05-0]
    AnastrozolePotent aromatase (CYP19) inhibitor[120511-73-1]
    About this table


    10/819 ""Novoseek chemical compound relationships for CYP19A1 gene (see all 819 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    3beta-hydroxysteroid 100.00 144 17548088 (3), 9571011 (2), 8364162 (2), 8013361 (2) (see all 100)
    17beta-hydroxysteroid 100.00 156 9929167 (4), 11205867 (3), 9626631 (2), 6325047 (2) (see all 100)
    fulvestrant 100.00 83 16912252 (3), 10598045 (3), 19645779 (2), 19137123 (2) (see all 71)
    4-hydroxyandrostenedione 100.00 237 9797017 (3), 7781147 (3), 9484813 (2), 9459198 (2) (see all 100)
    aminoglutethimide 100.00 280 3129284 (7), 3921242 (6), 3755630 (6), 16244789 (6) (see all 100)
    anastrozole 100.00 448 9522927 (4), 16263272 (4), 11900212 (4), 11329794 (4) (see all 100)
    letrozole 100.00 500 9878997 (4), 9556790 (4), 19217534 (4), 16263272 (4) (see all 100)
    testosterone 100.00 1121 2328827 (9), 11850230 (7), 9619844 (5), 9625355 (4) (see all 100)
    estrone 100.00 213 15456920 (5), 2796962 (4), 8476770 (3), 6725522 (3) (see all 100)
    fadrozole 100.00 274 9459198 (5), 8476776 (5), 8045368 (4), 7621894 (4) (see all 100)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:
    ""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (CYP19A1)
    ""Applied Biosystems Silencer® siRNAs:  NM_000103  NM_031226  
    "" Origene 29mer shRNA kits in GFP-retroviral vector: CYP19A1
    Origene shRNA RFP: CYP19A1
    Origene basic RS shRNA: CYP19A1

    ""Sigma-Aldrich siRNA Panels and siRNA for CYP19A1
    Sigma-Aldrich shRNA for CYP19A1
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""9 SABiosciences microRNAs that regulate CYP19A1""
    hsa-miR-98 hsa-let-7d hsa-let-7c hsa-let-7i hsa-let-7e hsa-let-7g hsa-let-7b hsa-let-7a hsa-let-7f
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_000103  NM_031226  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 2): CYP19A1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CYP19A1
    Origene untagged cDNA clones in CMV expression vector (see all 2): CYP19A1
    Primers:"" Origene genome-wide validated SYBR primer pairs: CYP19A1
    ""SABiosciences RT2 qPCR Primer Assay for CYP19A1: PPH00132A ""

    REFSEQ mRNAs for CYP19A1 gene (2 alternative transcripts): 

    NM_000103.3  NM_031226.2  

    Additional cDNA sequence: 

    AK291778.1 BC020767.1 BC022896.1 BC035714.1 BC035959.1 BC056258.1 BC107785.1 CR591944.1 
    CR594831.1 CR610414.1 CR615188.1 CR617535.1 CR617751.1 CR619515.1 CR620604.1 CR621023.1 
    CR622060.1 CR622116.1 DQ118405.1 J04127.1 M18856.1 M22246.1 M28420.1 S52789.1 
    S52793.1 S52794.1 S58866.1 S85075.1 S96437.1 X13589.1 Y07508.1 

    24/62 DOTS entries (see all 62 ):

    DT.449261  DT.100676727  DT.95300279  DT.101970966  DT.100869537  DT.91861766  DT.121057178  DT.100854649 
    DT.100676716  DT.121057260  DT.121057258  DT.303062  DT.40215192  DT.91787024  DT.100676720  DT.100676725 
    DT.121057024  DT.100660172  DT.121056960  DT.70102672  DT.121057151  DT.92416133  DT.121057217  DT.70101056 

    24/577 AceView cDNA sequences (see all 577 ):

    S52793 BX339221 BG572661 BG434800 BG572026 CR619515 S52794 H03482 
    R32427 CF527879 BG572583 CR620604 BU751802 N54268 BX339518 CR622116 
    BX360406 NM_031226 D79084 BX379105 BG572328 BQ023342 NM_000103 BG619920 

    "" highest scoring ESTs for CYP19A1:

    X13589 AA368214 AL540982 AL541360 AL541373 AL543759 AL551641 AU100175 BC020767 BC022896 

    Unigene Cluster for CYP19A1:

    Cytochrome P450, family 19, subfamily A, polypeptide 1
    Hs.260074  [show with all ESTs]
    Unigene Representative Sequence: NM_031226


    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for CYP19A1 (see all 12 )

    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:      

    About this scheme

    ECgene alternative splicing isoforms for CYP19A1

    11 Ensembl transcripts including schematic representations:
    ENST00000420301  ENST00000396404  ENST00000260433  ENST00000396402  ENST00000453807  ENST00000478421  
    ENST00000405011  ENST00000490076  ENST00000492852  ENST00000405913  ENST00000439712  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

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    CYP19A1 expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for CYP19A1

    1""  / 2""  / 3""

    12 probe-sets matching CYP19A1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    987_g_at2, 3 U95-A 1 1.00 1.00 0.59 1.04 X13589 1.00 1.00 1.00 1
    986_at2, 3 U95-A 1 1.00 1.00 0.96 1.29 X13589 1.00 1.00 1.00 1
    38039_at2, 3 U95-A 1 1.00 1.00 0.56 0.37 M22246 0.80 1.00 0.91 1
    1619_g_at2, 3 U95-A 1 1.00 1.00 0.70 1.18 D21241 0.20 1.00 0.72 1
    42790_at2 U95-B 1 0.94 1.00 0.21 0.91 -- -- -- -- --
    44388_at2, 3 U95-B 1 0.50 1.00 0.66 0.73 AA628233 0.60 1.00 0.82 1
    64527_at2, 3 U95-C 1 0.44 1.00 0.39 0.19 H13091 0.80 1.00 0.91 1
    1618_at*2, 3 U95-A 1 -- -- 0.58 0.33 D21241 0.20 1.00 0.72 1
    203475_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000103 0.60 1.00 0.82 1
    203475_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    1554296_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    1560295_at*2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    About this table

    "" CYP19A1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.260074

    Expression variation in blood from EXPOLDB for CYP19A1

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

    Primers:"" Origene genome-wide validated SYBR primer pairs: CYP19A1 ""
    ""SABiosciences RT2 qPCR Primer Assay for CYP19A1: PPH00132A ""
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

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    Orthologs for CYP19A1 gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CYP191   -- aromatase 87.98(n)
    86.25(a)
    494003  NM_001008715.1  NP_001008715.1 
    chimpanzee
    (Pan troglodytes)
    CYP19A11   -- cytochrome P450, family 19, subfamily A, polypeptide more 99.8(n)
    99.8(a)
    453433  XM_001169384.1  XP_001169384.1 
    cow
    (Bos taurus)
    CYP191   -- cytochrome P450, family XIX (conversion of androgen more 86.39(n)
    84.06(a)
    281740  NM_174305.1  NP_776730.1 
    rat
    (Rattus norvegicus)
    Cyp19a11   -- cytochrome P450, family 19, subfamily a, polypeptide more 80.69(n)
    77.85(a)
    25147  NM_017085.1  NP_058781.1 
    mouse
    (Mus musculus)
    Cyp19a15
    Cyp19a11
    9 (31.00 cM)5
    cytochrome P450, family 19, subfamily a, polypeptide more1, 5 81.41(n)1
    79.48(a)1
    130751  NM_007810.21  NP_031836.11 
     AK1433235  BC1036705  (see all 13)
    About this table        Species with no ortholog for CYP19A1

    ENSEMBL Gene Tree for CYP19A1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

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      --
    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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    10/1180 NCBI SNPs in CYP19A1 are shown (see all 1180 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 476)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 15 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    ""
    rs100461,2
    C,F,A,H51502986(-) GTACCC/TACTCT 2 -- ut31 ese3""31Minor allele frequency- T:0.46MN EA NS NA WA 6880""
    ""
    rs9346331,2
    C,F,O,A51500494(+) TTCCAC/TTTGAG 2 -- ut31""12Minor allele frequency- T:0.08MN NS EA NA 946""
    ""
    rs46461,2
    C,F,A,H51502844(+) ATGACC/AAATAG 2 -- ut31""41Minor allele frequency- A:0.29EA CSA EU CSAM NA MN NS WA 6920""
    ""
    rs64934971,2
    C,F,A,H28460912(+) catttG/Attgtc 1 -- ng51""15Minor allele frequency- A:0.15NS EA NA WA 3634""
    ""
    rs47759361,2
    C,F,A28366207(+) TTTTTC/TAACAT 2 -- ng51 int1""21Minor allele frequency- T:0.34NA NS EA 1898""
    ""
    rs22551921,2
    C,F,A51500835(+) ACAGGC/TTAAGC 2 -- ut31""16Minor allele frequency- T:0.28EA NS NA WA 2420""
    ""
    rs108514981,2
    C,F,A28367197(+) agatgT/Ctgcaa 2 -- ng51 int1""12Minor allele frequency- C:0.33NS EA NA WA 1018""
    --
    rs71760051,2
    C,F,A28461356(+) ttcaAC/TGGGTA 1 -- ng51""5Minor allele frequency- T:0.14NA EA WA 3090""
    ""
    rs9346341,2
    C,F,A51500538(+) GGTGTC/TTAGCA 2 -- ut31""18Minor allele frequency- T:0.29MN EA NS NA WA 2866""
    ""
    rs7527601,2
    C,F,A28461556(+) TCTGCT/CTGTCT 1 -- ng51""9Minor allele frequency- C:0.34NS EA NA WA 634""
    About this table

    HapMap Linkage Disequilibrium images for CYP19A1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
    Database of Genomic Variants (DGV): 6 variations for CYP19A1
         5 CNVs: 102102 72248 3081 8798 3963
         1 Indel: 33603

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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    "" CYP19A1 for disorders           About GeneDecksing

    OMIM: 107910

    UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511

  • Defects in CYP19A1 are a cause of familial gynecomastia [MIM:139300]. This is characterized by an estrogen
  • excess due to an increased aromatase activity
  • Defects in CYP19A1 are the cause of aromatase deficiency (AROD) [MIM:107910]. AROD is 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

    10/509 ""Novoseek disease relationships for CYP19A1 gene (see all 509 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 100.00 2451 19906814 (8), 17440110 (8), 16471323 (8), 17624762 (7) (see all 100)
    endometriosis 100.00 227 9024261 (6), 8550748 (6), 18048499 (5), 16806212 (5) (see all 100)
    aromatase deficiency 100.00 160 20164294 (5), 19707181 (4), 16439592 (4), 10843162 (4) (see all 100)
    breast tumor 100.00 246 9010331 (5), 9797023 (4), 19800002 (4), 10629706 (4) (see all 100)
    aromatase activity, increased 100.00 105 16394175 (3), 7060521 (2), 3090186 (2), 1889004 (2) (see all 96)
    breast cancer metastatic 66.12 117 9786093 (3), 16940812 (3), 11129731 (3), 9350235 (2) (see all 97)
    endometrial cancer 41.30 132 8476761 (5), 7856758 (5), 17404019 (5), 15939586 (4) (see all 73)
    estrogen resistance 32.22 15 9554463 (2), 7670243 (1), 19528961 (1), 16556720 (1) (see all 14)
    choriocarcinoma 26.74 58 3181871 (4), 9328212 (3), 12050258 (3), 9528950 (2) (see all 41)
    gynecomastia 24.31 42 18426832 (4), 8768875 (3), 10731125 (3), 9589695 (2) (see all 32)
    About this table

    Locus Specific Mutation Databases: CYP19A1
    Human Gene Mutation Database: CYP19A1
    Genetic Association Database: CYP19A1
    Human Genome Epidemiology Navigator: CYP19A1 (220 documents)

    (Possibly Related Articles in Doctor's Guide)
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    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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    39/2343 PubMed articles for CYP19A1 gene (see all 2343 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
    Search String
    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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    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/sites/GeneTests/lab/gene/CYP19A1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cyp19a1/
    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, 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


    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
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