CYP19A1
entrez
1588
canonical
uniprot
P11511
canonical
ensembl
ENSG00000137869
resolver
ensp
ENSP00000379683
resolver
ensp
ENSP00000379685
resolver
ensp
ENSP00000453149
resolver
ensp
ENSP00000622811
resolver
ensp
ENSP00000622812
resolver
ensp
ENSP00000622814
resolver
ensp
ENSP00000768888
resolver
genesymbol
CYP19A1
resolver
genesymbol_syn
ARO1
resolver
genesymbol_syn
CYAR
resolver
genesymbol_syn
CYP19
resolver
hgnc
HGNC:2594
resolver
uniprot
A8K6W3
resolver
uniprot
Q05CU4
resolver
uniprot
Q16731
resolver
uniprot
Q3B764
resolver
uniprot
Q58FA0
resolver
uniprot
Q8IYG4
resolver
uniprot
Q8IYJ7
resolver
uniprot
Q8TCA4
resolver
uniprot_entry
A8K6W3_HUMAN
resolver
uniprot_entry
CP19A_HUMAN
resolver
uniprot_entry
Q05CU4_HUMAN
resolver
uniprot_entry
Q8IYG4_HUMAN
resolver
uniprot_entry
Q8TCA4_HUMAN
resolver
uniprot_sec
Q16731
resolver
uniprot_sec
Q3B764
resolver
uniprot_sec
Q58FA0
resolver
uniprot_sec
Q8IYJ7
resolver
amino_acid_sequence
MVLEMLNPIHYNITSIVPEAMPAATMPVLLLTGLFLLVWNYEGTSSIPGPGYCMGIGPLISHGRFLWMGIGSACNYYNRVYGEFMRVWISGEETLIISKSSSMFHIMKHNHYSSRFGSKLGLQCIGMHEKGIIFNNNPELWKTTRPFFMKALSGPGLVRMVTVCAESLKTHLDRLEEVTNESGYVDVLTLLRRVMLDTSNTLFLRIPLDESAIVVKIQGYFDAWQALLIKPDIFFKISWLYKKYEKSVKDLKDAIEVLIAEKRRRISTEEKLEECMDFATELILAEKRGDLTRENVNQCILEMLIAAPDTMSVSLFFMLFLIAKHPNVEEAIIKEIQTVIGERDIKIDDIQKLKVMENFIYESMRYQPVVDLVMRKALEDDVIDGYPVKKGTNIILNIGRMHRLEFFPKPNEFTLENFAKNVPYRYFQPFGFGPRGCAGKYIAMVMMKAILVTLLRRFHVKTLQGQCVESIQKIHDLSLHPDETKNMLEMIFTPRNSDRCLEH
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:24705274, ECO:0000269|PubMed:8265607, ECO:0000269|PubMed:8530621, ECO:0000269|PubMed:9211678}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.14.14
uniprot
proteins
function
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). {ECO:0000269|PubMed:20385561, ECO:0000269|PubMed:22773874, ECO:0000269|PubMed:27702664, ECO:0000269|PubMed:2848247}.
uniprot
proteins
mass_dalton
57883
uniprot
proteins
pathway_participation
PATHWAY: Steroid hormone biosynthesis. {ECO:0000269|PubMed:20385561, ECO:0000269|PubMed:22773874}.
uniprot
proteins
post_translational_modification
PTM: Phosphorylated in vitro by PKA and PKG/PRKG1. These phosphorylations inhibit the catalytic activity as measured by estrone synthesis from androstenedione (36% decrease for PKA and 30% for PKG/PRKG1). {ECO:0000269|PubMed:27702664}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
10956405
uniprot
proteins
pubmed
1371509
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18987736
uniprot
proteins
pubmed
19129847
uniprot
proteins
pubmed
20385561
uniprot
proteins
pubmed
2040633
uniprot
proteins
pubmed
22773874
uniprot
proteins
pubmed
24705274
uniprot
proteins
pubmed
2541021
uniprot
proteins
pubmed
2691883
uniprot
proteins
pubmed
27657680
uniprot
proteins
pubmed
27702664
uniprot
proteins
pubmed
2808431
uniprot
proteins
pubmed
2848247
uniprot
proteins
pubmed
2973313
uniprot
proteins
pubmed
3018730
uniprot
proteins
pubmed
3390233
uniprot
proteins
pubmed
3653507
uniprot
proteins
pubmed
3964273
uniprot
proteins
pubmed
7690033
uniprot
proteins
pubmed
8117272
uniprot
proteins
pubmed
8265607
uniprot
proteins
pubmed
8530621
uniprot
proteins
pubmed
9211678
uniprot
proteins
pubmed
9352581
uniprot
proteins
sequence_length
503
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:2973313}; Multi-pass membrane protein {ECO:0000305}. Microsome membrane {ECO:0000269|PubMed:2973313}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 19..39; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 303..323; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins