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Aliases for CYP19A1 Gene

Aliases for CYP19A1 Gene

  • Cytochrome P450, Family 19, Subfamily A, Polypeptide 1 2 3
  • Cytochrome P450, Subfamily XIX (Aromatization Of Androgens) 2 3
  • Cytochrome P-450AROM 3 4
  • Cytochrome P450 19A1 3 4
  • Estrogen Synthase 3 4
  • CYPXIX 3 4
  • CYP19 3 4
  • ARO1 3 4
  • CYAR 3 4
  • Flavoprotein-Linked Monooxygenase 3
  • Microsomal Monooxygenase 3
  • Estrogen Synthetase 3
  • EC 1.14.14.14 4
  • EC 1.14.14.1 63
  • P-450AROM 3
  • CPV1 3
  • ARO 3

External Ids for CYP19A1 Gene

Previous HGNC Symbols for CYP19A1 Gene

  • CYP19

Previous GeneCards Identifiers for CYP19A1 Gene

  • GC15M044547
  • GC15M049080
  • GC15M049217
  • GC15M049288
  • GC15M051500
  • GC15M028330

Summaries for CYP19A1 Gene

Entrez Gene Summary for CYP19A1 Gene

  • 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 splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

GeneCards Summary for CYP19A1 Gene

CYP19A1 (Cytochrome P450, Family 19, Subfamily A, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP19A1 include aromatase deficiency and aromatase excess syndrome. Among its related pathways are Metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include iron ion binding and electron carrier activity. An important paralog of this gene is CYP11A1.

UniProtKB/Swiss-Prot for CYP19A1 Gene

  • Catalyzes the formation of aromatic C18 estrogens from C19 androgens

Tocris Summary for CYP19A1 Gene

  • 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.

Gene Wiki entry for CYP19A1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP19A1 Gene

Genomics for CYP19A1 Gene

Regulatory Elements for CYP19A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYP19A1 Gene

Chromosome:
15
Start:
51,208,057 bp from pter
End:
51,338,610 bp from pter
Size:
130,554 bases
Orientation:
Minus strand

Genomic View for CYP19A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP19A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP19A1 Gene

Proteins for CYP19A1 Gene

  • Protein details for CYP19A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11511-CP19A_HUMAN
    Recommended name:
    Aromatase
    Protein Accession:
    P11511
    Secondary Accessions:
    • Q16731
    • Q3B764
    • Q58FA0
    • Q8IYJ7

    Protein attributes for CYP19A1 Gene

    Size:
    503 amino acids
    Molecular mass:
    57883 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP19A1 Gene

    Alternative splice isoforms for CYP19A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP19A1 Gene

Proteomics data for CYP19A1 Gene at MOPED

Post-translational modifications for CYP19A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CYP19A1 (CYP19A1)

Domains & Families for CYP19A1 Gene

Gene Families for CYP19A1 Gene

Protein Domains for CYP19A1 Gene

Graphical View of Domain Structure for InterPro Entry

P11511

UniProtKB/Swiss-Prot:

CP19A_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP19A1: view

Function for CYP19A1 Gene

Molecular function for CYP19A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Testosterone + 3 O(2) + 3 reduced flavoproteins = 17-beta-estradiol + formate + 4 H(2)O + 3 oxidized flavoproteins
UniProtKB/Swiss-Prot CatalyticActivity:
Androst-4-ene-3,17-dione + 3 O(2) + 3 reduced flavoproteins = estrone + formate + 4 H(2)O + 3 oxidized flavoproteins
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of aromatic C18 estrogens from C19 androgens

Enzyme Numbers (IUBMB) for CYP19A1 Gene

Gene Ontology (GO) - Molecular Function for CYP19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0009055 electron carrier activity TAS 2848247
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 TAS 1371509
GO:0019825 oxygen binding TAS 2848247
genes like me logo Genes that share ontologies with CYP19A1: view
genes like me logo Genes that share phenotypes with CYP19A1: view

Animal Models for CYP19A1 Gene

MGI Knock Outs for CYP19A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP19A1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CYP19A1 Gene

Localization for CYP19A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP19A1 Gene

Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP19A1 Gene COMPARTMENTS Subcellular localization image for CYP19A1 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 2
mitochondrion 2
nucleus 2
peroxisome 2
cytoskeleton 1
cytosol 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane TAS 2848247
genes like me logo Genes that share ontologies with CYP19A1: view

Pathways & Interactions for CYP19A1 Gene

genes like me logo Genes that share pathways with CYP19A1: view

PCR Array Products

Interacting Proteins for CYP19A1 Gene

SIGNOR curated interactions for CYP19A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CYP19A1 Gene

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:0006805 xenobiotic metabolic process TAS --
GO:0008202 steroid metabolic process TAS --
genes like me logo Genes that share ontologies with CYP19A1: view

Drugs & Compounds for CYP19A1 Gene

(136) Drugs for CYP19A1 Gene - From: HMDB, NovoSeek, FDA Approved Drugs, DrugBank, Tocris, DGIdb, PharmGKB, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Exemestane Approved, Investigational Pharma inhibitor, Target, Enzyme Steroidal aromatase inhibitor,selective and irreversible, Steroidal aromatase (CYP19) inhibitor 184
Anastrozole Approved, Investigational Pharma Biomarker, inhibitor, Target, Enzyme Aromatase inhibitor, Aromatase Inhibitors, Hormone therapy, Potent aromatase (CYP19) inhibitor 252
Letrozole Approved, Investigational Pharma Biomarker, inhibitor, Target, Enzyme, antagonist, substrate Non-steroidal aromatase inhibitor, Aromatase Inhibitors 326
Aminoglutethimide Approved Pharma inhibitor, Target 2
Bifonazole Approved Pharma Enzyme, inhibitor 3

(79) Additional Compounds for CYP19A1 Gene - From: NovoSeek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11,12,15-THETA
  • 11,12,15-TriHETRE
  • 11,12,15-Trihydroxyicosatrienoate
  • 11,12,15-Trihydroxyicosatrienoic acid
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoate
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoic acid
11,12-Epoxyeicosatrienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoic acid
  • 10-(3-(2-Octenyl)oxiranyl)-5,8-Decadienoate
81276-02-0
11,14,15-THETA
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoic acid
  • 11,14,15-Trihydroxy-5Z,8Z,12E-eicosatrienoate
11H-14,15-EETA
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyeicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyicosa-5,8,12-trienoic acid
  • 11-Hydroxy-14,15-EETA
219535-29-2
12,13-EpOME
  • (+/-)-12(13)-epoxy-9Z-octadecenoate
  • (+/-)-12(13)-epoxy-9Z-octadecenoic acid
  • (9Z)-11-(3-pentyloxiran-2-yl)undec-9-enoate
  • (9Z)-11-(3-pentyloxiran-2-yl)undec-9-enoic acid
  • (9Z)-12,13-epoxyoctadecenoate
genes like me logo Genes that share compounds with CYP19A1: view

Drug Products

Transcripts for CYP19A1 Gene

Unigene Clusters for CYP19A1 Gene

Cytochrome P450, family 19, subfamily A, polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP19A1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP19A1 Gene

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
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for CYP19A1 Gene

GeneLoc Exon Structure for
CYP19A1
ECgene alternative splicing isoforms for
CYP19A1

Expression for CYP19A1 Gene

mRNA expression in normal human tissues for CYP19A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP19A1 Gene

This gene is overexpressed in Nerve - Tibial (x5.2), Adipose - Subcutaneous (x4.5), and Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for CYP19A1 Gene

This gene is overexpressed in Placenta (65.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP19A1 Gene



SOURCE GeneReport for Unigene cluster for CYP19A1 Gene Hs.260074

mRNA Expression by UniProt/SwissProt for CYP19A1 Gene

P11511-CP19A_HUMAN
Tissue specificity: Brain, placenta and gonads.
genes like me logo Genes that share expression patterns with CYP19A1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for CYP19A1 Gene

Orthologs for CYP19A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP19A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CYP19A1 35
  • 86.39 (n)
  • 84.06 (a)
CYP19A1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP19A1 35
  • 87.98 (n)
  • 86.25 (a)
CYP19A1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp19a1 35
  • 81.38 (n)
  • 79.32 (a)
Cyp19a1 16
Cyp19a1 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CYP19A1 35
  • 99.8 (n)
  • 99.8 (a)
CYP19A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp19a1 35
  • 80.32 (n)
  • 77.14 (a)
oppossum
(Monodelphis domestica)
Mammalia CYP19A1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP19A1 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP19A1 35
  • 71.75 (n)
  • 72.09 (a)
CYP19A1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP19A1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp19a1 35
  • 68.69 (n)
  • 71.31 (a)
African clawed frog
(Xenopus laevis)
Amphibia p450arom-A 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
cyp19a1b 35
  • 61.63 (n)
  • 57.11 (a)
cyp19a1a 36
  • 49 (a)
OneToMany
cyp19a1b 36
  • 52 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.29 35
fruit fly
(Drosophila melanogaster)
Insecta Cyp310a1 36
  • 15 (a)
OneToMany
Species with no ortholog for CYP19A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP19A1 Gene

ENSEMBL:
Gene Tree for CYP19A1 (if available)
TreeFam:
Gene Tree for CYP19A1 (if available)

Paralogs for CYP19A1 Gene

Paralogs for CYP19A1 Gene

genes like me logo Genes that share paralogs with CYP19A1: view

Variants for CYP19A1 Gene

Sequence variations from dbSNP and Humsavar for CYP19A1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs13192 -- 51,295,378(+) CCGCT(A/C)CCCTC intron-variant
rs752760 -- 51,339,282(+) TCTGC(C/T)TGTCT upstream-variant-2KB
rs936309 -- 51,295,182(+) AAAAT(A/T)TACAA intron-variant
rs999480 -- 51,295,663(-) GACTT(A/G)GTTTT intron-variant
rs1061825 -- 51,323,533(-) AAATA(A/T)ATTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYP19A1 Gene

Variant ID Type Subtype PubMed ID
nsv904214 CNV Gain 21882294
esv34532 CNV Gain 17911159
dgv747e1 CNV Complex 17122850
nsv471243 CNV Gain 18288195
esv2675752 CNV Deletion 23128226
esv25817 CNV Loss 19812545
nsv904215 CNV Gain 21882294
esv2433892 CNV Deletion 19546169
esv2674047 CNV Deletion 23128226
esv1648684 CNV Insertion 17803354
nsv9265 CNV Loss 18304495

Variation tolerance for CYP19A1 Gene

Residual Variation Intolerance Score: 23.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.55; 77.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP19A1 Gene

HapMap Linkage Disequilibrium report
CYP19A1
Human Gene Mutation Database (HGMD)
CYP19A1
The Human Cytochrome P450 Allele Nomenclature Database
CYP19A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP19A1 Gene

Disorders for CYP19A1 Gene

MalaCards: The human disease database

(61) MalaCards diseases for CYP19A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
aromatase deficiency
  • aromatase excess syndrome
aromatase excess syndrome
  • aexs
endometriosis
gender identity disorder
  • psychosexual identity disorder
estrogen excess
  • hyperestrogenism
- elite association

UniProtKB/Swiss-Prot

CP19A_HUMAN
  • Aromatase deficiency (AROD) [MIM:613546]: 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. {ECO:0000269 PubMed:24705274, ECO:0000269 PubMed:8265607, ECO:0000269 PubMed:8530621, ECO:0000269 PubMed:9211678}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Aromatase excess syndrome (AEXS) [MIM:139300]: An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYP19A1

Genetic Association Database (GAD)
CYP19A1
Human Genome Epidemiology (HuGE) Navigator
CYP19A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP19A1
genes like me logo Genes that share disorders with CYP19A1: view

No data available for Genatlas for CYP19A1 Gene

Publications for CYP19A1 Gene

  1. History of aromatase: saga of an important biological mediator and therapeutic target. (PMID: 19389994) Santen R.J. … Brodie A. (Endocr. Rev. 2009) 23 25 26 67
  2. Pharmacokinetics and pharmacodynamics of anastrozole in pubertal boys with recent-onset gynecomastia. (PMID: 19470631) Mauras N. … Lowe E. (J. Clin. Endocrinol. Metab. 2009) 23 25 26 67
  3. Antiproliferative effect of exemestane in lung cancer cells. (PMID: 19930708) Koutras A. … Kalofonos H. (Mol. Cancer 2009) 23 25 26 67
  4. Role of neo-adjuvant hormonal therapy in the treatment of breast cancer: a review of clinical trials. (PMID: 20360896) Abrial C. … Penault-Llorca F. (Int J Gen Med 2009) 23 25 26 67
  5. Aminoglutethimide-induced protein free radical formation on myeloperoxidase: a potential mechanism of agranulocytosis. (PMID: 17602675) Siraki A.G. … Mason R.P. (Chem. Res. Toxicol. 2007) 23 25 26 67

Products for CYP19A1 Gene

Sources for CYP19A1 Gene

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