Aliases for CYP19A1 Gene
Aliases for CYP19A1 Gene
External Ids for CYP19A1 Gene
- HGNC: 2594
- Entrez Gene: 1588
- Ensembl: ENSG00000137869
- OMIM: 107910
- UniProtKB: P11511
Previous HGNC Symbols for CYP19A1 Gene
- CYP19
Previous GeneCards Identifiers for CYP19A1 Gene
- GC15M044547
- GC15M049080
- GC15M049217
- GC15M049288
- GC15M051500
- GC15M028330
Summaries 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 Ovarian Infertility Genes 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.
UniProtKB/Swiss-Prot for CYP19A1 Gene
-
Catalyzes the formation of aromatic C18 estrogens from C19 androgens.
-
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.
Additional gene information for CYP19A1 Gene
- Monarch Initiative
- Search for CYP19A1 at DataMed
- Search for CYP19A1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP19A1 Gene
Genomics for CYP19A1 Gene
GeneHancer (GH) Regulatory Elements for CYP19A1 Gene
Promoters and enhancers for CYP19A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CYP19A1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CYP19A1 gene promoter:
Regulatory Element Products
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)
Genomic View for CYP19A1 Gene
Genes around CYP19A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q21.2 by Ensembl
- 15q21.2 by Entrez Gene
- 15q21.2 by HGNC
CYP19A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for CYP19A1 Gene
Selected DME Specific Peptides for CYP19A1 Gene
- P11511:
-
- TSSIPGP
- IGMHEKGI
- GEETLIISKSSS
- GIGPLIS
- GIIFNNNP
- ILNIGRMH
- RVWISGEET
- IAMVMMK
- ESMRYQPVVD
- LSLHPDET
- FPKPNEFTLENF
- LVMRKAL
- GPGLVRMV
- GLQCIGMHE
- RPFFMKAL
- RFGSKLGL
- FFMLFLIAKHP
- GTNIILN
- DFATELI
- MIFTPRNS
- IFFKISWL
- RFLWMGIGS
- RYFQPFG
- PFGFGPR
- KYEKSVKDLKDA
- RYQPVVDLVMR
- LLVWNYE
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:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CYP19A1
- Novus Biologicals Antibodies for CYP19A1
-
Abcam antibodies for CYP19A1
-
Cloud-Clone Corp. Antibodies for CYP19A1
- Invitrogen Antibodies for CYP19A1
- antibodies-online: Search results for 158 available CYP19A1 Antibodies ranked by validation data
- Compare Top CYP19A1 Antibodies
-
Recommended
- 115 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 1 FACS Antibody (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 42 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 1 FACS Antibody (anti-rat)
- 34 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- GeneTex CYP19A1 antibody for CYP19A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CYP19A1
- Sino Biological Antibodies for CYP19A1
Protein Products
-
OriGene Purified Proteins for CYP19A1
- Search Origene for MassSpec and Protein Over-expression Lysates for CYP19A1
- Origene Custom Protein Services for CYP19A1
-
Cloud-Clone Corp. Proteins for CYP19A1
- Search GeneTex for Proteins for CYP19A1
-
Abcam proteins for CYP19A1
Assay Products
-
Cloud-Clone Corp. Assay Kits for CYP19A1
- antibodies-online: Search results for 55 available CYP19A1 Elisa Kits ranked by validation data
- Compare Top CYP19A1 Elisa Kits
-
Recommended
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
Graphical View of Domain Structure for InterPro Entry
P11511- Family:
-
- Belongs to the cytochrome P450 family.
Function for CYP19A1 Gene
Molecular function for CYP19A1 Gene
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=0.46 uM for androstenedione {ECO:0000269 PubMed:27702664};
- 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 Function:
- Catalyzes the formation of aromatic C18 estrogens from C19 androgens.
Enzyme Numbers (IUBMB) for CYP19A1 Gene
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for CYP19A1 Gene
- MGI mutant phenotypes for CYP19A1:
-
inferred from 5 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- cardiovascular system phenotype
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- hematopoietic system phenotype
- skeleton phenotype
- pigmentation phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for CYP19A1:
Animal Models for CYP19A1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CYP19A1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CYP19A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP19A1 gene
- Search ViGene Biosciences for CYP19A1
CRISPR Products
-
OriGene CRISPR knockouts for CYP19A1
- genomics-online: gRNA clones - Search results for available CYP19A1 gene related products
- Applied Biological Materials CRISPR for CYP19A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP19A1
- GenScript: Design CRISPR guide RNA sequences for CYP19A1
miRNA for CYP19A1 Gene
- miRTarBase miRNAs that target CYP19A1
miRNA Products
- Search ViGene Biosciences for CYP19A1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for CYP19A1
- Browse OriGene Inhibitory RNA Products For CYP19A1
- genomics-online: shRNA clones - Search results for available CYP19A1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP19A1 gene
Clone Products
- Sino Biological Human cDNA Clone for CYP19A1
- VectorBuilder custom plasmid, inducible vectors for CYP19A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYP19A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available CYP19A1 gene related products
- orf clones - Search results for available CYP19A1 gene related products
- Applied Biological Materials Clones for CYP19A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CYP19A1
-
ViGene Biosciences adenoviral particle packaged cDNA for CYP19A1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CYP19A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP19A1 gene
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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| nucleus | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| lysosome | 1 |
- Mitochondria (2)
| 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 | -- |
Pathways & Interactions for CYP19A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type | ||
| 2 | Metabolism |
.37
|
|
| 3 | Metabolism of steroid hormones | ||
| 4 | Ovarian steroidogenesis | ||
| 5 | Steroid hormone biosynthesis | ||
Pathways by source for CYP19A1 Gene
6 BioSystems pathways for CYP19A1 Gene
8 Reactome pathways for CYP19A1 Gene
3 PharmGKB pathways for CYP19A1 Gene
3 KEGG pathways for CYP19A1 Gene
2 GeneGo (Thomson Reuters) pathways for CYP19A1 Gene
1 Cell Signaling Technology pathway 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 | -- |
Drugs & Compounds for CYP19A1 Gene
(144) Drugs for CYP19A1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Anastrozole | Approved, Investigational | Pharma | Target, Enzyme, inhibitor, Biomarker | Aromatase inhibitor, Potent aromatase (CYP19) inhibitor, Aromatase Inhibitors, Hormone therapy | 297 | |
| Exemestane | Approved, Investigational | Pharma | Target, Enzyme, inhibitor | Steroidal aromatase inhibitor,selective and irreversible | 234 | |
| Letrozole | Approved, Investigational | Pharma | Target, Enzyme, antagonist, substrate, inhibitor, Biomarker | Non-steroidal aromatase inhibitor, Aromatase Inhibitors | 424 | |
| 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 |
|
|
||||
| 11,12-Epoxyeicosatrienoic acid |
|
81276-02-0 |
|
|||
| 11,14,15-THETA |
|
|
||||
| 11H-14,15-EETA |
|
219535-29-2 |
|
|||
| 12,13-EpOME |
|
|
(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 |
(6) ApexBio Compounds for CYP19A1 Gene
| 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 |
Transcripts for CYP19A1 Gene
mRNA/cDNA for CYP19A1 Gene
- (12) 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
CRISPR Products
-
OriGene CRISPR knockouts for CYP19A1
- genomics-online: gRNA clones - Search results for available CYP19A1 gene related products
- Applied Biological Materials CRISPR for CYP19A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP19A1
- GenScript: Design CRISPR guide RNA sequences for CYP19A1
miRNA Products
- Search ViGene Biosciences for CYP19A1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for CYP19A1
- Browse OriGene Inhibitory RNA Products For CYP19A1
- genomics-online: shRNA clones - Search results for available CYP19A1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP19A1 gene
Clone Products
- Sino Biological Human cDNA Clone for CYP19A1
- VectorBuilder custom plasmid, inducible vectors for CYP19A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYP19A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available CYP19A1 gene related products
- orf clones - Search results for available CYP19A1 gene related products
- Applied Biological Materials Clones for CYP19A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - |
| ExUns: | 17 |
|---|---|
| SP1: | |
| SP2: | |
| SP3: | |
| SP4: | |
| SP5: | |
| SP6: | |
| SP7: | |
| SP8: | |
| SP9: | |
| SP10: | |
| SP11: | |
| SP12: |
Expression for CYP19A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Mature Granulosa Cells Antral Follicle
- Mature follicles(Skory RM et. al. 2012)
- Brain (Nervous System)
- Gonad (Reproductive System)
-
Placenta (Extraembryonic Tissues)
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).
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:
CYP19A1SOURCE GeneReport for Unigene cluster for CYP19A1 Gene:
Hs.260074mRNA 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
Primer Products
-
OriGene qPCR primer pairs for CYP19A1
-
OriGene qPCR primer pairs and template standards for CYP19A1
- genomics-online: primer clones - Search results for available CYP19A1 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CYP19A1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | CYP19A1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CYP19A1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cyp19a1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CYP19A1 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cyp19a1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CYP19A1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CYP19A1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CYP19A1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cyp19a1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | p450arom-A 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cyp19a1b 33 34 |
|
||
| cyp19a1a 34 |
|
OneToMany | |||
| -- 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.29 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Cyp310a1 34 |
|
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)
Paralogs for CYP19A1 Gene
(9) SIMAP similar genes for CYP19A1 Gene using alignment to 14 proteins:
No data available for Paralogs for CYP19A1 Gene
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP19A1 Gene
Disorders for CYP19A1 Gene
(66) MalaCards diseases for CYP19A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| aromatase deficiency |
|
|
| aromatase excess syndrome |
|
|
| estrogen excess |
|
|
| endometriosis |
|
|
| gynecomastia |
|
Search CYP19A1 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for CYP19A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CYP19A1 Gene
Publications for CYP19A1 Gene
- CYP19 (aromatase) haplotypes and endometrial cancer risk. (PMID: 15800924) Paynter RA … De Vivo I (International journal of cancer 2005) 3 22 25 44 58
- 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
- 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
- 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
- Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer. (PMID: 19505920) Beuten J … Leach RJ (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 44 58
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- Mammalian expression: PiggyBac
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- antibodies-online: Search results for 158 available CYP19A1 Antibodies ranked by validation data
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Sources for CYP19A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (42) GenAtlas
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- (55) miRBase
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- (65) Sino Biological
- (66) GenScript
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- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
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