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CYP19A1 Gene(Protein Coding)

Cytochrome P450 Family 19 Subfamily A Member 1

GCID:
GC15M051208
GIFtS:
55
Genes Participants
UDN Logo

Aliases for CYP19A1 Gene

Aliases for CYP19A1 Gene

  • Cytochrome P450 Family 19 Subfamily A Member 1 2 3 5
  • Cytochrome P450, Subfamily XIX (Aromatization Of Androgens) 2 3
  • Cytochrome P450, Family 19, Subfamily A, Polypeptide 1 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
  • P-450AROM 3
  • Aromatase 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 promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

GeneCards Summary for CYP19A1 Gene

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 Integrated Breast Cancer Pathway and Ovarian steroidogenesis. Gene Ontology (GO) annotations related to this gene include iron ion binding and electron transfer activity.

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

Additional gene information for CYP19A1 Gene

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

Genomics for CYP19A1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CYP19A1 Gene

Promoters and enhancers for CYP19A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH15J051317 Promoter/Enhancer 1.5 EPDnew ENCODE dbSUPER 650.4 +19.8 19824 2.5 MLX RAD21 THRB ZNF48 RARA CREM THAP11 MIXL1 HMG20B SP5 CYP19A1 GLDN GNB5 ENSG00000259306
GH15J051337 Promoter/Enhancer 0.8 EPDnew ENCODE 650.7 +0.1 91 1.5 NFRKB CYP19A1 GLDN ENSG00000259306
GH15J051338 Enhancer 0.6 FANTOM5 dbSUPER 659.8 +1.9 1882 0.4 PKNOX1 CYP19A1 GLDN TNFAIP8L3 ENSG00000259306
GH15J051244 Promoter 0.5 EPDnew 660.3 +95.6 95561 0.1 CYP19A1 GC15M051242 GC15M051243 PIRC66 MIR4713 GLDN GC15M051167 MIR4713HG
GH15J051314 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 45.5 +23.0 22976 3 ELF3 MLX ARID4B DMAP1 RAD21 ZNF48 ZSCAN9 RARA CREM THAP11 MIR7973-2 MIR7973-1 ENSG00000259306 CYP19A1 GLDN GNB5 AP4E1 PIRC66
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP19A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP19A1 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1

Genomic Locations for CYP19A1 Gene

Genomic Locations for CYP19A1 Gene
chr15:51,208,057-51,338,610
(GRCh38/hg38)
Size:
130,554 bases
Orientation:
Minus strand
chr15:51,500,254-51,630,807
(GRCh37/hg19)
Size:
130,554 bases
Orientation:
Minus strand

Genomic View for CYP19A1 Gene

Genes around CYP19A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP19A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP19A1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CYP19A1 Gene

Proteins for CYP19A1 Gene

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  • 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

Protein Expression for CYP19A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CYP19A1 Gene

  • Phosphorylated in vitro by PKA and PKG/PRKG1. These phosphorylations inhibit the catalytic activity as measured by estrone synthesis from androstenedione (36% decrease for PKA and 30% for PKG/PRKG1).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP19A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYP19A1 Gene

Domains & Families for CYP19A1 Gene

Gene Families for CYP19A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CYP19A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CYP19A1 Gene

GenScript: Design optimal peptide antigens:

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

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Molecular function for CYP19A1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of aromatic C18 estrogens from C19 androgens.
UniProtKB/Swiss-Prot CatalyticActivity:
Testosterone + 3 [reduced NADPH--hemoprotein reductase] + 3 O(2) = 17-beta-estradiol + formate + 4 H(2)O + 3 [oxidized NADPH--hemoprotein reductase].
UniProtKB/Swiss-Prot CatalyticActivity:
Androst-4-ene-3,17-dione + 3 [reduced NADPH--hemoprotein reductase] + 3 O(2) = estrone + formate + 4 H(2)O + 3 [oxidized NADPH--hemoprotein reductase].
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.46 uM for androstenedione {ECO:0000269 PubMed:27702664};

Enzyme Numbers (IUBMB) for CYP19A1 Gene

Phenotypes From GWAS Catalog for CYP19A1 Gene

Gene Ontology (GO) - Molecular Function for CYP19A1 Gene

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 --
genes like me logo Genes that share ontologies with CYP19A1: view
genes like me logo Genes that share phenotypes with CYP19A1: view

Human Phenotype Ontology for CYP19A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP19A1 Gene

MGI Knock Outs for CYP19A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP19A1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

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,IEA 2848247
GO:0016021 integral component of membrane IEA --
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

Interacting Proteins for CYP19A1 Gene

Selected Interacting proteins: P11511-CP19A_HUMAN for CYP19A1 Gene via IID MINT

GPS-Prot Interaction Network for CYP19A1

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:0006710 androgen catabolic process IDA 26482249
GO:0008209 androgen metabolic process IEA --
genes like me logo Genes that share ontologies with CYP19A1: view

Drugs & Compounds for CYP19A1 Gene

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(153) Drugs for CYP19A1 Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anastrozole Approved, Investigational Pharma Biomarker, inhibitor, Target, Enzyme Aromatase inhibitor, Aromatase Inhibitors, Hormone therapy, Potent aromatase (CYP19) inhibitor 297
Exemestane Approved, Investigational Pharma inhibitor, Target, Enzyme Steroidal aromatase inhibitor,selective and irreversible, Steroidal aromatase (CYP19) inhibitor 234
Letrozole Approved, Investigational Pharma Biomarker, inhibitor, Target, Enzyme, antagonist, substrate Non-steroidal aromatase inhibitor, Aromatase Inhibitors 424
Aminoglutethimide Approved, Investigational Pharma inhibitor, Target 2
Bifonazole Approved, Investigational Pharma Enzyme, inhibitor 4

(69) Additional Compounds for CYP19A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11,12,15-THETA
  • 11,12,15-Trihydroxyicosatrienoic acid
  • (5Z,8Z,13E)-(15S)-11,12,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,13E)-(15S)-11,12,15-Trihydroxyicosa-5,8,12-trienoic acid
  • 11,12,15-Trihydroxyicosatrienoate
  • (5Z,8Z,13E)-(15S)-11,12,15-Trihydroxyeicosa-5,8,12-trienoate
11,12-Epoxyeicosatrienoic acid
  • (+/-)11(12)-eet
  • (+/-)11(12)-epetre
  • (+/-)11,12-epetre
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoic acid
 81276-02-0
11,14,15-THETA
  • 11,14,15-Trihydroxyicosatrienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoic acid
  • 11,14,15-Trihydroxyicosatrienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoate
11H-14,15-EETA
  • 11-Hydroxy-14,15-eeta
  • 11-Hydroxy-14,15-epoxyeicosatrienoic acid
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-14,15-Epoxy-11-hydroxyicosa-5,8,12-trienoic acid
  • 11-Hydroxy-14,15-epoxyeicosatrienoate
 219535-29-2
12,13-EpOME
  • (9Z)-11-(3-Pentyloxiran-2-yl)undec-9-enoic acids
  • (9Z)-12,13-Epoxyoctadecenoic acid
  • 12(13)-EpOME
  • 12,13-cis-Epoxyoctadecenoic acid
  • 12,13-Epoxy-9(Z)-octadecenoic acid

(5) Tocris Compounds for CYP19A1 Gene

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

Transcripts for CYP19A1 Gene

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mRNA/cDNA for CYP19A1 Gene

(11) REFSEQ mRNAs :
(23) Additional mRNA sequences :
(577) Selected AceView cDNA sequences:
(20) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP19A1 Gene

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

CRISPR Products

Inhibitory RNA Products

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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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP19A1 Gene

mRNA expression in normal human tissues for CYP19A1 Gene
mRNA expression by BioGPS for CYP19A1 GenemRNA expression by GTEx 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 and MOPED for CYP19A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CYP19A1 Gene:

CYP19A1

SOURCE GeneReport for Unigene cluster for CYP19A1 Gene:

Hs.260074

mRNA Expression by UniProt/SwissProt for CYP19A1 Gene:

P11511-CP19A_HUMAN
Tissue specificity: Widely expressed, including in adult and fetal brain, placenta, skin fibroblasts, adipose tissue and gonads.

Evidence on tissue expression from TISSUES for CYP19A1 Gene

  • Nervous system(2.6)
  • Adrenal gland(2.5)
  • Liver(2.5)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP19A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CYP19A1: view

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
chimpanzee
(Pan troglodytes)
 Mammalia CYP19A1 34 33
  • 99.8 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CYP19A1 34 33
  • 87.98 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CYP19A1 34 33
  • 86.39 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cyp19a1 16 34 33
  • 81.38 (n)
oppossum
(Monodelphis domestica)
 Mammalia CYP19A1 34
  • 81 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cyp19a1 33
  • 80.32 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CYP19A1 34
  • 75 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CYP19A1 34 33
  • 71.75 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CYP19A1 34
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cyp19a1 33
  • 68.69 (n)
African clawed frog
(Xenopus laevis)
 Amphibia p450arom-A 33
zebrafish
(Danio rerio)
 Actinopterygii cyp19a1b 34 33
  • 61.63 (n)
 OneToMany
cyp19a1a 34
  • 49 (a)
 OneToMany
-- 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.29 33
fruit fly
(Drosophila melanogaster)
 Insecta Cyp310a1 34
  • 15 (a)
 OneToMany
Species where no ortholog for CYP19A1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CYP19A1: view image

Paralogs for CYP19A1 Gene

(9) SIMAP similar genes for CYP19A1 Gene using alignment to 14 proteins:

  • CP19A_HUMAN
  • E7EPL6_HUMAN
  • E7EQ08_HUMAN
  • E9PGZ6_HUMAN
  • H0YK57_HUMAN
  • H0YKN1_HUMAN
  • H0YLP1_HUMAN
  • H0YLS2_HUMAN
  • H0YNJ7_HUMAN
  • Q05CU4_HUMAN
  • Q45RG7_HUMAN
  • Q7Z471_HUMAN
  • Q8IYG4_HUMAN
  • Q8IYJ7_HUMAN
genes like me logo Genes that share paralogs with CYP19A1: view

No data available for Paralogs for CYP19A1 Gene

Variants for CYP19A1 Gene

Products:

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Sequence variations from dbSNP and Humsavar for CYP19A1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs10046 benign, Aromatase deficiency 51,210,789(-) G/A 3_prime_UTR_variant
rs1016765769 uncertain-significance, Aromatase deficiency 51,208,616(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs121434534 pathogenic, Aromatase deficiency, Aromatase deficiency (AROD) [MIM:613546] 51,211,017(-) G/A coding_sequence_variant, missense_variant
rs121434536 pathogenic, Aromatase deficiency, Aromatase deficiency (AROD) [MIM:613546] 51,212,460(-) G/A coding_sequence_variant, missense_variant
rs121434538 pathogenic, Aromatase deficiency 51,222,349(-) C/T coding_sequence_variant, missense_variant

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

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

Variation tolerance for CYP19A1 Gene

Residual Variation Intolerance Score: 23.6% 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)

Additional Variant Information for CYP19A1 Gene

Human Gene Mutation Database (HGMD)
CYP19A1
The Human Cytochrome P450 Allele Nomenclature Database
CYP19A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP19A1

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

Disorders for CYP19A1 Gene

MalaCards: The human disease database

(69) MalaCards diseases for CYP19A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aromatase deficiency
  • pseudohermaphroditism, female, due to placental aromatase deficiency
aromatase excess syndrome
  • aexs
estrogen excess
  • hyperestrogenism
gynecomastia
leydig cell tumor
  • leydig cell neoplasm
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for CYP19A1

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

No data available for Genatlas for CYP19A1 Gene

Publications for CYP19A1 Gene

  1. CYP19 (aromatase) haplotypes and endometrial cancer risk. (PMID: 15800924) Paynter RA … De Vivo I (International journal of cancer 2005) 3 22 25 44 58
  2. Functional genetic polymorphisms in the aromatase gene CYP19 vary the response of breast cancer patients to neoadjuvant therapy with aromatase inhibitors. (PMID: 20048079) Wang L … Ingle JN (Cancer research 2010) 3 22 44 58
  3. A polymorphism at the 3'-UTR region of the aromatase gene defines a subgroup of postmenopausal breast cancer patients with poor response to neoadjuvant letrozole. (PMID: 20144226) Garcia-Casado Z … Lopez-Guerrero JA (BMC cancer 2010) 3 22 44 58
  4. Genetic variation in sex-steroid receptors and synthesizing enzymes and colorectal cancer risk in women. (PMID: 20148360) Lin J … Cook NR (Cancer causes & control : CCC 2010) 3 22 44 58
  5. Association study of gender identity disorder and sex hormone-related genes. (PMID: 19604497) Ujike H … Kuroda S (Progress in neuro-psychopharmacology & biological psychiatry 2009) 3 22 44 58

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