InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP19A1

Summary

InnateDB Protein

IDBP-237567.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CYP19A1

Protein Name

cytochrome P450, family 19, subfamily A, polypeptide 1

Synonyms

ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX; P-450AROM;

Species

Homo sapiens

Ensembl Protein

ENSP00000379683

InnateDB Gene

IDBG-11985 (CYP19A1)

Protein Structure

UniProt Annotation

Function

Catalyzes the formation of aromatic C18 estrogens from C19 androgens.

Subcellular Localization

Membrane; Peripheral membrane protein.

Disease Associations

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:0000269PubMed:8265607, ECO:0000269PubMed:8530621, ECO:0000269PubMed:9211678}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Brain, placenta and gonads. {ECO:0000269PubMed:2040633, ECO:0000269PubMed:3018730, ECO:0000269PubMed:7690033, ECO:0000269PubMed:8117272}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	2 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion binding
GO:0009055	electron carrier activity
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
GO:0019825	oxygen binding
GO:0020037	heme binding
GO:0070330	aromatase activity

Biological Process

GO:0006694	steroid biosynthetic process
GO:0006703	estrogen biosynthetic process
GO:0006805	xenobiotic metabolic process
GO:0008202	steroid metabolic process
GO:0008209	androgen metabolic process
GO:0016125	sterol metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process
GO:0060736	prostate gland growth