ID:CP19A_HUMAN DESCRIPTION: RecName: Full=Cytochrome P450 19A1; EC=1.14.14.1; AltName: Full=Aromatase; AltName: Full=CYPXIX; AltName: Full=Cytochrome P-450AROM; AltName: Full=Estrogen synthase; FUNCTION: Catalyzes the formation of aromatic C18 estrogens from C19 androgens. CATALYTIC ACTIVITY: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O. COFACTOR: Heme group. SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. TISSUE SPECIFICITY: Brain, placenta and gonads. DISEASE: Defects in CYP19A1 are a cause of aromatase excess syndrome (AEXS) [MIM:139300]; also known as familial gynecomastia. AEXS is characterized by an estrogen excess due to an increased aromatase activity. DISEASE: Defects in CYP19A1 are the cause of aromatase deficiency (AROD) [MIM:613546]. 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. SIMILARITY: Belongs to the cytochrome P450 family. WEB RESOURCE: Name=Wikipedia; Note=Aromatase entry; URL="http://en.wikipedia.org/wiki/Aromatase"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP19A1"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp19a1/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11511
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004497 monooxygenase activity GO:0005506 iron ion binding GO:0008395 steroid hydroxylase activity GO:0009055 electron carrier activity GO:0016491 oxidoreductase activity GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 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 GO:0019825 oxygen binding GO:0020037 heme binding GO:0046872 metal ion binding GO:0070330 aromatase activity
Biological Process: GO:0002677 negative regulation of chronic inflammatory response GO:0006694 steroid biosynthetic process GO:0006703 estrogen biosynthetic process GO:0006710 androgen catabolic process GO:0008209 androgen metabolic process GO:0008585 female gonad development GO:0010760 negative regulation of macrophage chemotaxis GO:0016125 sterol metabolic process GO:0022900 electron transport chain GO:0030540 female genitalia development GO:0030879 mammary gland development GO:0055114 oxidation-reduction process GO:0060065 uterus development GO:0060736 prostate gland growth GO:0061370 testosterone biosynthetic process GO:2000866 positive regulation of estradiol secretion
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
