Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

CYP19A1

Aliases

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

Entrez Gene ID

1588

Gene Name

Cytochrome P450 family 19 subfamily A member 1

Chromosomal Location

15q21.2

HGNC ID

2594

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 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]

RefSeq DNA

NG_007982.1

RefSeq mRNA

NM_031226.3, NM_000103.4, NM_001347248.1, NM_001347249.2, NM_001347250.1, NM_001347251.1, NM_001347252.1, NM_001347253.1, NM_001347254.1, NM_001347255.2, NM_001347256.2

e!Ensembl

Gene	ENSG00000137869
Transcript	ENST00000396402, ENST00000396404, ENST00000559878, ENST00000490076, ENST00000559653, ENST00000557934, ENST00000439712, ENST00000558066, ENST00000561075, ENST00000558328, ENST00000478421, ENST00000453807, ENST00000405913, ENST00000557858, ENST00000559980, ENST00000405011, ENST00000559646, ENST00000561066, ENST00000492852, ENST00000613097
Protein	ENSP00000379683, ENSP00000379685, ENSP00000453149, , ENSP00000452667, ENSP00000454004, ENSP00000390614, ENSP00000454039, ENSP00000453280, ENSP00000391139, ENSP00000383930, ENSP00000452627, ENSP00000452872, ENSP00000384389, ENSP00000453318, ENSP00000479587

SNPs

SNP	SNP ID	Associated disease	References
SNP60 - int 7_14A, IVS7 + 26, G-A		Premature pubarche	15802318
rs12907866	rs12907866	Premature pubarche	15802318
rs4646	rs4646	Premature pubarche	15802318
rs2414096	rs2414096	Premature pubarche	15802318

Gene Ontology (GO)

Show/Hide all(13 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006694	Biological process	Steroid biosynthetic process	TAS	2848247
GO:0006710	Biological process	Androgen catabolic process	IDA	26482249
GO:0008585	Biological process	Female gonad development	IBA	21873635
GO:0032355	Biological process	Response to estradiol	IBA	21873635
GO:2000866	Biological process	Positive regulation of estradiol secretion	IDA	26482249
GO:0005783	Cellular component	Endoplasmic reticulum	IBA	21873635
GO:0016020	Cellular component	Membrane	TAS	2848247
GO:0009055	Molecular function	Electron transfer activity	TAS	2848247
GO:0016712	Molecular function	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	TAS	1371509
GO:0019825	Molecular function	Oxygen binding	TAS	2848247
GO:0020037	Molecular function	Heme binding	IDA	19129847
GO:0070330	Molecular function	Aromatase activity	IBA	21873635
GO:0070330	Molecular function	Aromatase activity	IDA	19129847, 26482249

Protein Information

Protein Name

Aromatase, cytochrome P-450AROM, cytochrome P450 19A1, cytochrome P450, family 19, subfamily A, polypeptide 1, cytochrome P450, subfamily XIX (aromatization of androgens), estrogen synthase, estrogen synthetase, flavoprotein-linked monooxygenase, microsomal monooxygenase

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 three successive oxidations of C19 androgens: two conventional oxidations at C19 yielding 19-hydroxy and 19-oxo/19-aldehyde derivatives, followed by a third oxidative aromatization step that involves C1-beta hydrogen abstraction combined with cleavage of the C10-C19 bond to yield a phenolic A ring and formic acid (PubMed:20385561). Alternatively, the third oxidative reaction yields a 19-norsteroid and formic acid. Converts dihydrotestosterone to delta1,10-dehydro 19-nordihydrotestosterone and may play a role in homeostasis of this potent androgen (PubMed:22773874). Also displays 2-hydroxylase activity toward estrone (PubMed:22773874). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:20385561, PubMed:22773874).

Refseq Proteins

NP_112503.1, NP_000094.2, NP_001334177.1, NP_001334178.1, NP_001334179.1, NP_001334180.1, NP_001334181.1, NP_001334182.1, NP_001334183.1, NP_001334184.1, NP_001334185.1

UniProt

P11511

PDB

1TQA, 3EQM, 3S79, 3S7S, 4GL5, 4GL7, 4KQ8, 5JKV, 5JKW, 5JL6, 5JL7, 5JL9