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Aliases for CYP19A1 Gene

Aliases for CYP19A1 Gene

  • Cytochrome P450, Family 19, Subfamily A, Polypeptide 1 2 3
  • CYP19 3 4 6
  • 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
  • ARO1 3 4
  • CYAR 3 4
  • ARO 3 6
  • 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
  • Aromatase 3
  • CPV1 3

External Ids for CYP19A1 Gene

Previous Symbols for CYP19A1 Gene

  • CYP19

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 Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. 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 and commonly catalyze redox reactions, involving the oxidation of the substrate and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They are found at high levels in the liver, where they have an important role in metabolism of drugs and endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis, cholesterol synthesis and vitamin D metabolism.

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

Genomic Location for CYP19A1 Gene

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

Regulatory Elements 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

Domains for CYP19A1 Gene

Gene Families for CYP19A1 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Protein Domains for CYP19A1 Gene

Graphical View of Domain Structure for InterPro Entry

P11511

UniProtKB/Swiss-Prot:

CP19A_HUMAN
Family:
  • Belongs to the cytochrome P450 family.:
    • P11511
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:

miRNA for CYP19A1 Gene

No data available for Transcription Factor Targeting 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
nucleus 2
cytosol 1
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 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 for CYP19A1 Gene

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

Interacting Proteins for CYP19A1 Gene

Gene Ontology (GO) - Biological Process for CYP19A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0008209 androgen metabolic process IEA --
genes like me logo Genes that share ontologies with CYP19A1: view

Compounds for CYP19A1 Gene

(5) Tocris Compounds for CYP19A1 Gene

Compound Action Cas Number
Exemestane Steroidal aromatase (CYP19) inhibitor [107868-30-4]
Letrozole Potent, reversible non-steroidal aromatase inhibitor [112809-51-5]
Methoxyresorufin Fluorometric CYP450 substrate [5725-89-3]
Pentoxyresorufin Fluorometric cytochrome P450 substrate [87687-03-4]
PF 4981517 Selective CYP3A4 inhibitor [1390637-82-7]

(51) HMDB Compounds for CYP19A1 Gene

Compound Synonyms Cas Number PubMed IDs
10-HETE
  • 10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate
167697-52-1
11,12,15-THETA
  • 11,12,15-Trihydroxyicosatrienoic acid
Not Available
11,12-Epoxyeicosatrienoic acid
  • 10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid
81276-02-0
11,14,15-THETA
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid
Not Available
11beta-Hydroxytestosterone
  • 11beta,17beta-dihydroxyandrost-4-en-3-one
1816-85-9

(45) Drugbank Compounds for CYP19A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Aminoglutethimide
  • Dl-Aminoglutethimide
125-84-8 target inhibitor
Anastrozole
120511-73-1 target inhibitor
Anastrozole
120511-73-1 enzyme inhibitor
Betamethasone
378-44-9 enzyme substrate inducer
Bifonazole
  • (+-)-1-(p,alpha-Diphenylbenzyl)imidazole
60628-96-8 enzyme inhibitor

(135) Novoseek inferred chemical compound relationships for CYP19A1 Gene

Compound -log(P) Hits PubMed IDs
anastrozole 98 159
letrozole 97.9 157
exemestane 97.5 152
tamoxifen 95.4 296
formestane 95 118

(2) PharmGKB related drug/compound annotations for CYP19A1 Gene

Drug/compound Annotation
exemestane CA
letrozole CA
genes like me logo Genes that share compounds with CYP19A1: view

Transcripts for CYP19A1 Gene

Unigene Clusters for CYP19A1 Gene

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

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 (5.2), Adipose - Subcutaneous (4.5), and Whole Blood (4.2).

Integrated Proteomics: protein expression 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 expressions with CYP19A1: view

Orthologs for CYP19A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP19A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP19A1 35
  • 99.8 (n)
  • 99.8 (a)
CYP19A1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CYP19A1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP19A1 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp19a1 35
  • 80.32 (n)
  • 77.14 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia p450arom-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp19a1 35
  • 68.69 (n)
  • 71.31 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.29 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
cyp19a1a 36
  • 49 (a)
OneToMany
cyp19a1b 35
  • 61.63 (n)
  • 57.11 (a)
cyp19a1b 36
  • 52 (a)
OneToMany
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
rs4646 -- 51,210,647(+) ATGAC(A/C)AATAG utr-variant-3-prime
rs10046 -- 51,210,789(-) GTACC(C/T)ACTCT utr-variant-3-prime
rs13192 -- 51,295,378(+) CCGCT(A/C)CCCTC intron-variant
rs700518 -- 51,236,915(-) CGGGT(A/G)TATGG reference, synonymous-codon
rs700519 Benign, - 51,215,771(-) AAAGA(C/T)GCAGG reference, missense

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

Relevant External Links for CYP19A1 Gene

HapMap Linkage Disequilibrium report
CYP19A1
Human Gene Mutation Database (HGMD)
CYP19A1
Locus Specific Mutation Databases (LSDB)
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

(2) OMIM Diseases for CYP19A1 Gene (107910)

UniProtKB/Swiss-Prot

CP19A_HUMAN
  • 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.
  • 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.

(4) University of Copenhagen DISEASES for CYP19A1 Gene

(94) Novoseek inferred disease relationships for CYP19A1 Gene

Disease -log(P) Hits PubMed IDs
breast cancer 92.3 380
breast cancer metastatic 84.1 108
endometrial cancer 74.8 99
endometriosis 74.1 202
gynecomastia 71.9 42

Relevant External Links for CYP19A1

Genetic Association Database (GAD)
CYP19A1
Human Genome Epidemiology (HuGE) Navigator
CYP19A1
genes like me logo Genes that share disorders with CYP19A1: view

Publications for CYP19A1 Gene

  1. CYP19 (aromatase) haplotypes and endometrial cancer risk. (PMID: 15800924) Paynter R.A. … De Vivo I. (Int. J. Cancer 2005) 3 23 26 48
  2. Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. (PMID: 8265607) Ito Y. … Simpson E.R. (Proc. Natl. Acad. Sci. U.S.A. 1993) 3 4 23
  3. CYP19 gene polymorphism in endometrial cancer patients. (PMID: 11216915) Berstein L.M. … Gamajunova V.B. (J. Cancer Res. Clin. Oncol. 2001) 3 23 48
  4. Allelic variants of aromatase and the androgen and estrogen receptors: toward a multigenic model of prostate cancer risk. (PMID: 11595700) Modugno F. … Ferrell R.E. (Clin. Cancer Res. 2001) 3 23 48
  5. Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women. (PMID: 11925378) Kado N. … Honjo H. (Hum. Reprod. 2002) 3 23 48

Products for CYP19A1 Gene

Sources for CYP19A1 Gene

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