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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
48
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (12 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aromatase excess syndrome Likely pathogenic; Pathogenic rs2542466633, rs375990501, rs2542394532, rs2031075939, rs121434538, rs769461019, rs768157788 RCV005626696
RCV005012822
RCV005013047
RCV003989852
RCV005003394
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMENORRHEA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
46, XX Disorders of Sex Development 46, XX Disorders of Sex Development BEFREE 26279340
★☆☆☆☆
Found in Text Mining only
Acanthosis Nigricans Acanthosis Nigricans HPO_DG
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 29285776
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 29285776
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11753649, 18491956, 20467160, 24242679
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 21472143
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 21472143
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 10704911
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 20710045, 24242679, 24803578
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 30195637
★☆☆☆☆
Found in Text Mining only