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FLASH GENE
Symbol CYP19A1 contributors: mct/npt - updated : 22-05-2010
HGNC name cytochrome P450, family 19, subfamily A, polypeptide 1
HGNC id 2594
Corresponding disease
AROD aromatase deficiency syndrome
AROE aromatase excess syndrome
Location 15q21.2      Physical location : 51.500.254 - 51.630.795
Synonym name
  • aromatase /estrogen synthetase
  • cytochrome P450, subfamily XIX (aromatization of androgens)
  • estrogen synthetase
  • flavoprotein-linked monooxygenase
  • microsomal monooxygenase
  • Synonym symbol(s) ARO, ARO1, CPV1, CYAR, CYP19, P-450AROM, MGC104309, CYPXIX
    EC.number 1.14.14.1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE opposite orientation
    text opposite orientation with TMOD3 and KIAA1749
    STRUCTURE 130.54 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • tissue-specific promoter : an endothelial promoter, GATA-2-regulated , immediately upstream of exon I.7 and mapped to about 36 kb upstream of ATG translation start site, increasing estrogen biosynthesis in vascular endothelial cells of breast cancer and modulating intracrine and paracrine effects of estrogen on blood vessels
  • partially tissue-specific promoters used in the gonads, bone, brain, vascular tissue, adipose tissue, skin, fetal liver and placenta for physiologic estrogen biosynthesis
  • 30 kb 3' end of this gene contains nine exons (II-X), which encode the aromatase protein
  • ATG translation initiation site is located 38 bp downstream of a common splice acceptor site in coding exon II
  • base pair changes in physiological promoters gene may increase the enhancer activity of the regulatory sequences
  • promoter I.3 is one of the major promoters that control the expression of aromatase in breast cancer tissue, interacting with SNAI1 (Okubo 2001)
  • important role of the alternative exons 1 in posttranscriptional regulation of aromatase gene expression (Wang 2009)
  • MAPPING cloned Y linked N status confirmed
    Map Cen - CYP19 - DMXL2 - TMOD3 - MAPK6 - CGNL1 - TLN2 - qter
    Authors Demura (2007)
    Physical map
    CRI1 15q21.1-q21.2 CREBBP/EP300 inhibitory protein 1 LOC390582 15 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 KIAA0256 15q15.3 KIAA0256 gene product TRIP15 15q21.2 KIAA0256 gene product LOC390583 15 similar to Protein C6orf66 (HSPC125) (My013 protein) GALK2 15q21.1 galactokinase 2 FLJ32800 15q15.3 hypothetical protein FLJ32800 LOC390584 15 similar to putative intramembrane cleaving protease; presenilin-like protein 2; intramembrane protease 3 FGF7 15q15-q21.1 fibroblast growth factor 7 (keratinocyte growth factor) MDS009 15q15.3 x 009 protein LOC388120 15 hypothetical gene supported by BC013357; NM_016120 ATP8B4 15q15.3 ATPase, Class I, type 8B, member 4 SLC27A2 15q21.2 solute carrier family 27 (fatty acid transporter), member 2 HDC 15q15-q21 histidine decarboxylase GABPB2 15q15.2 GA binding protein transcription factor, beta subunit 2, 47kDa FLJ10038 15q15.3 hypothetical protein FLJ10038 USP8 6p21.3 ubiquitin specific protease 8 TRPM7 15q21 transient receptor potential cation channel, subfamily M, member 7 SPPL2A 15q15.3 putative intramembrane cleaving protease AP4E1 15q15.2 adaptor-related protein complex 4, epsilon 1 subunit LOC388121 15 similar to TNF-induced protein CYP19A1 15q21.1 cytochrome P450, family 19, subfamily A, polypeptide 1 FLJ11181 15q15.3 hypothetical protein FLJ11181 CRG-L2 15q15.3 likely ortholog of mouse cancer related gene - liver 2 RC3 15q15.3 rabconnectin-3 SCG3 15q21 secretogranin III MGC35274 15q21.1 hypothetical protein MGC35274 TMOD2 15q21.1-q21.2 tropomodulin 2 (neuronal) TMOD3 15q21.1-q21.2 tropomodulin 3 (ubiquitous) LOC123169 15q21.1 senescence downregulated leo1-like MAPK6 15q21 mitogen-activated protein kinase 6 BCL2L10 15q21 BCL2-like 10 (apoptosis facilitator) GNB5 15q21 guanine nucleotide binding protein (G protein), beta 5 MYO5C 15q21 myosin VC MYO5A 15q21.1 myosin VA (heavy polypeptide 12, myoxin) EEF1B1 15q15.1-q15.3 eukaryotic translation elongation factor 1 beta 1 ARPP-19 15q15.3 eukaryotic translation elongation factor 1 beta 1 FLJ10980 15q21.1 hypothetical protein FLJ10980 ONECUT1 15q21.1-q21.2 one cut domain, family member 1 LOC388122 15 similar to Laminin receptor 1 LOC390585 15 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) LOC388123 15 LOC388123 FLJ38736 15q21.1 hypothetical protein FLJ38736
    RNA
    TRANSCRIPTS type messenger
    text multiple tissue-specific promoters, which result in the production of various mRNA transcripts that contain an alternative noncoding exon 1 followed by a common protein-coding region (Wang 2009)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 splicing 4422 - 503 ovarian specific Simpson, Harada (1992)
    lack exon 2a
    11 - 4531 57.8 503 ovarian specific Simpson, Harada (1992)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainlimbic systemhippocampus highly
    Reproductivefemale systemovary   
     female systemplacenta   
     male systemtestis   
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    Nervouspyramidal cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • juxtaposition of the hydrophobic N-terminal region and the opening to the catalytic cleft shows why membrane anchoring is necessary for the lipophilic substrates to gain access to the active site (Ghosh 2009)
  • conjugated HemoP
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Cyp19
    Homologene
    FAMILY
  • cytochrome P450 subfamily XIX
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • catalyzes the conversion of androgens to estrogens through a sequential three-step reaction, generating 19-hydroxy and 19-aldehyde intermediates en route to the product estrogen (Sohl 2010)
  • catalyzing the last steps of estrogen biosynthesis, three successive hydroxylations of the A ring of androgens
  • plays a crucial role in the endocrine and paracrine biosynthesis of estrogens from androgens in many diverse estrogen-responsive tissues
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism hormone
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH, heme
  • protein
  • flavoprotein P450 oxidoreductase (POR)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AROD , AROE
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    four promoters (II, I.3, I.7 and I.4) markedly increasing total expression in breast cancer
    Susceptibility
  • endometrial cancer development (A6 and A7 allele over represented)
  • to bone mineral density variability in men
  • to breast cancer
  • Variant & Polymorphism SNP , insertion/deletion
  • associations for five SNPs with age at menarche in Caucasian females
  • common haplotype of aromatase associated with gene expression is also associated with the risk of osteoporotic vertebral fractures in postmenopausal women
  • polymorphism associated with femoral neck bone mineral density in men
  • 3-bp I/D polymorphisms of the CYP19A1 gene may be associated with breast cancer in Korean women (Kim 2009)
  • Candidate gene
    Marker
    Therapy target important target in endocrine therapy for estrogen receptor (ER)-positive postmenopausal breast cancer (Wang 2009)
    ANIMAL & CELL MODELS