CYP19A1
Summary: 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. 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. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| cytochrome P450 family 19 subfamily A member 1 | MIM:107910 | Ensembl:ENSG00000137869 | HGNC:HGNC:2594 | PA27091 | 15q21.2 |
GO terms in CYP19A1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005506 | iron ion binding |
| MF | TAS | GO:0008395 | steroid hydroxylase activity |
| MF | TAS | GO:0009055 | electron transfer activity |
| MF | TAS | 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 |
| MF | TAS | GO:0019825 | oxygen binding |
| MF | IDA | GO:0020037 | heme binding |
| MF | IDA | GO:0070330 | aromatase activity |
| BP | IEA | GO:0002677 | negative regulation of chronic inflammatory response |
| BP | TAS | GO:0006694 | steroid biosynthetic process |
| BP | TAS | GO:0006703 | estrogen biosynthetic process |
| BP | IDA | GO:0006710 | androgen catabolic process |
| BP | IEA | GO:0008585 | female gonad development |
| BP | IEA | GO:0010760 | negative regulation of macrophage chemotaxis |
| BP | TAS | GO:0016125 | sterol metabolic process |
| BP | IEA | GO:0022900 | electron transport chain |
| BP | IEA | GO:0030540 | female genitalia development |
| BP | IEA | GO:0030879 | mammary gland development |
| BP | IEA | GO:0060065 | uterus development |
| BP | IEA | GO:0060736 | prostate gland growth |
| BP | IEA | GO:0061370 | testosterone biosynthetic process |
| BP | IDA | GO:2000866 | positive regulation of estradiol secretion |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | TAS | GO:0016020 | membrane |
Gene expression in normal tissue: CYP19A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CYP19A1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP1984 | Integrated Breast Cancer Pathway |
| wikipathways | WP2035 | Follicle Stimulating Hormone (FSH) signaling pathway |
| wikipathways | WP34 | Ovarian Infertility Genes |
| wikipathways | WP43 | Oxidation by Cytochrome P450 |
| wikipathways | WP465 | Tryptophan metabolism |
| wikipathways | WP702 | Metapathway biotransformation Phase I and II |
| smpdb | SMP00068 | Androgen and Estrogen Metabolism |
| smpdb | SMP00356 | 17-Beta Hydroxysteroid Dehydrogenase III Deficiency |
| smpdb | SMP00565 | Aromatase deficiency |
| pharmgkb | PA145011117 | Aromatase Inhibitor Pathway (Multiple Tissues), Pharmacodynamics |
| pharmgkb | PA145011118 | Estrogen Metabolism Pathway |
| pharmgkb | PA145011120 | Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics |
| humancyc | PWY-7305 | superpathway of steroid hormone biosynthesis |
| humancyc | PWY-7306 | estradiol biosynthesis II |
| humancyc | PWY66-380 | estradiol biosynthesis I |
| kegg | hsa00140 | Steroid hormone biosynthesis - Homo sapiens (human) |
| kegg | hsa04913 | Ovarian steroidogenesis - Homo sapiens (human) |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-193144 | Estrogen biosynthesis |
| reactome | R-HSA-196071 | Metabolism of steroid hormones |
| reactome | R-HSA-211859 | Biological oxidations |
| reactome | R-HSA-211897 | Cytochrome P450 - arranged by substrate type |
| reactome | R-HSA-211945 | Phase I - Functionalization of compounds |
| reactome | R-HSA-211976 | Endogenous sterols |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-5579029 | Metabolic disorders of biological oxidation enzymes |
| reactome | R-HSA-5579030 | Defective CYP19A1 causes Aromatase excess syndrome (AEXS) |
| reactome | R-HSA-5668914 | Diseases of metabolism |
| reactome | R-HSA-8957322 | Metabolism of steroids |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD71 | Sparfosic acid | 3 |
| iGMDRD280 | CYTOCHALASIN B | 2 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD546 | BMS-754807 | 3 |
| iGMDRD494 | Neopeltolide | 2 |
| iGMDRD523 | Cyanoquinoline, 11 | 3 |
| iGMDRD405 | PIK-75 | 2 |
| iGMDRD414 | MST-312 | 2 |
| iGMDRD399 | Selumetinib | 2 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD74 | Idarubicin | 2 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD322 | FK 866 | 2 |
| iGMDRD271 | Brefeldin A | 3 |
| iGMDRD137 | Indisulam | 6 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD171 | Pemetrexed | 3 |
| iGMDRD481 | Dactolisib | 1 |
| iGMDRD441 | TW 37 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CYP19A1
CLASSFICATION
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