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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
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