Homo sapiens Protein: CYP19A1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-237565.6 | ||||||||||||||||||
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 | ENSP00000379685 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001128
Cytochrome P450 IPR002397 Cytochrome P450, B-class IPR002401 Cytochrome P450, E-class, group I IPR002403 Cytochrome P450, E-class, group IV |
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PFAM |
PF00067
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PRINTS |
PR00385
PR00359 PR00463 PR00465 |
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PIRSF | |||||||||||||||||||
SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P11511 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P11511 | ||||||||||||||||||
TrEMBL | Q16449 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 1588 | ||||||||||||||||||
UniGene | Hs.669832 | ||||||||||||||||||
RefSeq | NP_112503 | ||||||||||||||||||
HUGO | HGNC:2594 | ||||||||||||||||||
OMIM | 107910 | ||||||||||||||||||
CCDS | CCDS10139 | ||||||||||||||||||
HPRD | 00488 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC012169 AC020891 AY957953 BC107785 CH471082 J04127 M18856 M22246 M28420 M30796 M30797 M30798 M30800 M30801 M30802 M30803 M30804 S85356 X13589 Y07508 | ||||||||||||||||||
GenPept | AAA35556 AAA35557 AAA35728 AAA52132 AAA52141 AAB21520 AAI07786 AAX44046 CAA31929 CAA68807 EAW77413 EAW77414 EAW77415 EAW77416 | ||||||||||||||||||