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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]
CYP19A1 (Cytochrome P450 Family 19 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP19A1 include Aromatase Deficiency and Aromatase Excess Syndrome. Among its related pathways are Cytochrome P450 - arranged by substrate type and Androstenedione and testosterone biosynthesis and metabolism p.1. Gene Ontology (GO) annotations related to this gene include iron ion binding and electron transfer activity. An important paralog of this gene is CYP4F3.
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IEA | -- |
GO:0005506 | iron ion binding | IEA | -- |
GO:0008395 | steroid hydroxylase activity | TAS | -- |
GO:0009055 | electron transfer activity | TAS | 2848247 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IDA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA,TAS | 2848247 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0031090 | organelle membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | Metabolism |
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3 | Metabolism of steroid hormones | ||
4 | Glucose / Energy Metabolism | ||
5 | Ovarian steroidogenesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002677 | negative regulation of chronic inflammatory response | IEA | -- |
GO:0006694 | steroid biosynthetic process | TAS | 2848247 |
GO:0006703 | estrogen biosynthetic process | TAS | -- |
GO:0006710 | androgen catabolic process | IDA | 26482249 |
GO:0008209 | androgen metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Anastrozole | Approved, Investigational | Pharma | Target, inhibitor, Biomarker | Aromatase inhibitor, Potent aromatase (CYP19) inhibitor, Aromatase Inhibitors, Hormone therapy | 337 | |
Exemestane | Approved, Investigational | Pharma | Target, Enzyme, inhibitor | Steroidal aromatase inhibitor,selective and irreversible, Steroidal aromatase (CYP19) inhibitor | 258 | |
Letrozole | Approved, Investigational | Pharma | Target, Enzyme, antagonist, inhibitor, Biomarker | Non-steroidal aromatase inhibitor, Aromatase Inhibitors | 528 | |
Aminoglutethimide | Approved, Investigational | Pharma | Target, inhibitor | 2 | ||
Bifonazole | Approved, Investigational | Pharma | Enzyme, inhibitor | 4 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
11,12,15-THETA |
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11,12-EpETrE |
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81276-02-0 |
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11,14,15-THETA |
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11H-14,15-EETA |
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219535-29-2 |
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12,13-EpOME |
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Compound | Action | Cas Number |
---|---|---|
Anastrozole | Potent aromatase (CYP19) inhibitor | 120511-73-1 |
Exemestane | Steroidal aromatase (CYP19) inhibitor | 107868-30-4 |
Ketoconazole | Cytochrome P450c17 inhibitor | 65277-42-1 |
TMS | Cytochrome P450 1B1 inhibitor | 24144-92-1 |
YM 511 | Potent aromatase (CYP19) inhibitor | 148869-05-0 |
Compound | Action | Cas Number |
---|---|---|
Aminoglutethimide | 125-84-8 | |
Anastrozole | Aromatase inhibitor | 120511-73-1 |
Bifonazole | 60628-96-8 | |
Exemestane | Steroidal aromatase inhibitor,selective and irreversible | 107868-30-4 |
Formestane | Type I steroidal aromatase inhibitor | 566-48-3 |
Letrozole | Non-steroidal aromatase inhibitor | 112809-51-5 |
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: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - |
ExUns: | 17 |
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SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: | |
SP10: | |
SP11: | |
SP12: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CYP19A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CYP19A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CYP19A1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cyp19a1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CYP19A1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cyp19a1 30 |
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Platypus (Ornithorhynchus anatinus) |
Mammalia | CYP19A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CYP19A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CYP19A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cyp19a1 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | p450arom-A 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | cyp19a1b 30 31 |
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OneToMany | |
cyp19a1a 31 |
|
OneToMany | |||
-- 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.29 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp310a1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639516 | Pathogenic: not provided | 51,212,418(-) | T/A | NONSENSE | |
639591 | Pathogenic: not provided | 51,215,773(-) | CT/C | FRAMESHIFT_VARIANT | |
649135 | Pathogenic: not provided | 51,212,560(-) | AC/A | ||
653853 | Pathogenic: not provided | 51,212,524(-) | T/TA | FRAMESHIFT_VARIANT | |
724362 | Benign: Aromatase deficiency; not provided | 51,215,128(-) | G/C | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4526n54 | CNV | gain | 21841781 |
esv1648684 | CNV | insertion | 17803354 |
esv2433892 | CNV | deletion | 19546169 |
esv25817 | CNV | loss | 19812545 |
esv2674047 | CNV | deletion | 23128226 |
esv2675752 | CNV | deletion | 23128226 |
esv2760031 | CNV | gain | 17122850 |
esv34532 | CNV | gain | 17911159 |
esv3636461 | CNV | gain | 21293372 |
esv3636465 | CNV | loss | 21293372 |
nsv1047443 | CNV | gain | 25217958 |
nsv1134446 | CNV | deletion | 24896259 |
nsv471243 | CNV | gain | 18288195 |
nsv9265 | CNV | loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aromatase deficiency |
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aromatase excess syndrome |
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estrogen excess |
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gynecomastia |
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myoma |
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