Gene Gene information from NCBI Gene database.
Entrez ID 1588
Gene name Cytochrome P450 family 19 subfamily A member 1
Gene symbol CYP19A1
Synonyms (NCBI Gene)
AROARO1CPV1CYARCYP19CYPXIXP-450AROM
Chromosome 15
Chromosome location 15q21.2
Summary 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 local
miRNA miRNA information provided by mirtarbase database.
120
miRTarBase ID miRNA Experiments Reference
MIRT006759 hsa-miR-378a-3p Luciferase reporter assay 21846797
MIRT006759 hsa-miR-378a-3p Luciferase reporter assay 21846797
MIRT006759 hsa-miR-378a-3p Luciferase reporter assay 21846797
MIRT006759 hsa-miR-378a-3p Luciferase reporter assay 21846797
MIRT006759 hsa-miR-378a-3p Luciferase reporter assay 21846797
Transcription factors Transcription factors information provided by TRRUST V2 database.
27
Transcription factor Regulation Reference
BRCA1 Activation 21087664
BRCA1 Unknown 19445691
CEBPB Repression 11994385
CEBPB Unknown 7635140;8603036
CEBPD Repression 11994385
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0002677 Process Negative regulation of chronic inflammatory response IEA
GO:0004497 Function Monooxygenase activity IEA
GO:0005506 Function Iron ion binding IEA
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
107910 2594 ENSG00000137869
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11511
Protein name Aromatase (EC 1.14.14.14) (CYPXIX) (Cytochrome P-450AROM) (Cytochrome P450 19A1) (Estrogen synthase)
Protein function A cytochrome P450 monooxygenase that catalyzes the conversion of C19 androgens, androst-4-ene-3,17-dione (androstenedione) and testosterone to the C18 estrogens, estrone and estradiol, respectively (PubMed:27702664, PubMed:2848247). Catalyzes th
PDB 3EQM , 3S79 , 3S7S , 4GL5 , 4GL7 , 4KQ8 , 5JKV , 5JKW , 5JL6 , 5JL7 , 5JL9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 46 488 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, including in adult and fetal brain, placenta, skin fibroblasts, adipose tissue and gonads. {ECO:0000269|PubMed:2040633, ECO:0000269|PubMed:3018730, ECO:0000269|PubMed:7690033, ECO:0000269|PubMed:8117272}.
Sequence
Sequence length 503
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis
  Estrogen biosynthesis
Endogenous sterols
Defective CYP19A1 causes Aromatase excess syndrome (AEXS)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
170
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aromatase deficiency Pathogenic; Likely pathogenic rs2141079375, rs2542466633, rs375990501, rs2542394532, rs121434534, rs78310315, rs786205107, rs121434536, rs786205108, rs786205109, rs80051519, rs2542423740, rs786205110, rs121434538, rs769461019
View all (2 more)
RCV001832802
RCV005626696
RCV003230825
RCV005013047
RCV000019393
RCV000019394
RCV000019395
RCV000019396
RCV000019397
RCV000019398
RCV000019399
RCV000019400
RCV000019401
RCV000019404
RCV001830765
RCV001827423
RCV001196822
Aromatase excess syndrome Likely pathogenic; Pathogenic rs2542466633, rs375990501, rs2542394532, rs2031075939, rs121434538, rs769461019, rs768157788 RCV005626696
RCV005012822
RCV005013047
RCV003989852
RCV005003394
RCV005012346
RCV002489695
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Uncertain significance rs773015145 RCV001667862
Cervical cancer Uncertain significance rs750143398 RCV005930654
CYP19A1-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign rs1003379171, rs200111039, rs368902124, rs61203654, rs58282176 RCV003953800
RCV003930364
RCV003910196
RCV003917915
RCV003927982
Letrozole response drug response; Benign rs727479, rs10046 RCV003330338
RCV003330314
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 26345775, 30044146
Abortion Spontaneous Associate 30044146
Acrocephalosyndactylia Associate 21170323
Acth Independent Macronodular Adrenal Hyperplasia Associate 31014964
Adenocarcinoma Associate 11228047, 20467160
Adenocarcinoma of Lung Associate 27526096, 36527059
Adenomyoma Associate 22963808
Adenomyosis Associate 14631363, 17135033, 23755957
Adenomyosis Stimulate 20553220
Adrenal Gland Neoplasms Associate 11228047, 19026713, 20467160