• Gene id: 1588

Gene Summary

• Gene Symbol: CYP19A1   Gene   UCSC   Ensembl
• Aliases: ARO, ARO1, CPV1, CYAR, CYP19, CYPXIX, P-450AROM
• Gene name: cytochrome P450 family 19 subfamily A member 1
• Alternate names: 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, microsom,
• Gene location: 15q21.2 (51338597: 51208056)     Exons: 18     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 107910

SNPs

rs700519

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.4   c.790C>T
NM_000103.3   c.790C>T
NM_031226.3   c.790C>T
NM_031226.2   c.790C>T
NM_001347255.2   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.2   c.790C>T
NM_001347256.1   c.

Protein Summary

• Protein general information: P11511  
  • Name: Aromatase (EC 1.14.14.14) (CYPXIX) (Cytochrome P 450AROM) (Cytochrome P450 19A1) (Estrogen synthase)
  • Length: 503  
  • Mass: 57,883
• Sequence:

  MVLEMLNPIHYNITSIVPEAMPAATMPVLLLTGLFLLVWNYEGTSSIPGPGYCMGIGPLISHGRFLWMGIGSACN
  YYNRVYGEFMRVWISGEETLIISKSSSMFHIMKHNHYSSRFGSKLGLQCIGMHEKGIIFNNNPELWKTTRPFFMK
  ALSGPGLVRMVTVCAESLKTHLDRLEEVTNESGYVDVLTLLRRVMLDTSNTLFLRIPLDESAIVVKIQGYFDAWQ
  ALLIKPDIFFKISWLYKKYEKSVKDLKDAIEVLIAEKRRRISTEEKLEECMDFATELILAEKRGDLTRENVNQCI
  LEMLIAAPDTMSVSLFFMLFLIAKHPNVEEAIIKEIQTVIGERDIKIDDIQKLKVMENFIYESMRYQPVVDLVMR
  KALEDDVIDGYPVKKGTNIILNIGRMHRLEFFPKPNEFTLENFAKNVPYRYFQPFGFGPRGCAGKYIAMVMMKAI
  LVTLLRRFHVKTLQGQCVESIQKIHDLSLHPDETKNMLEMIFTPRNSDRCLEH

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR036396  
  • Prosite: PS00086
  • PDB: 1TQA 3EQM 3S79 3S7S 4GL5 4GL7 4KQ8 5JKV 5JKW 5JL6 5JL7 5JL9
  • PDBsum: 1TQA 3EQM 3S79 3S7S 4GL5 4GL7 4KQ8 5JKV 5JKW 5JL6 5JL7 5JL9
  • STRING: ENSP00000260433
• Other Databases: GeneCards:  CYP19A1  Malacards:  CYP19A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002677	negative regulation of chronic inflammatory response	IEA	biological process
GO:0005506	iron ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0006703	estrogen biosynthetic process	TAS	biological process
GO:0008209	androgen metabolic process	IEA	biological process
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0009055	electron carrier activity	TAS	molecular function
GO:0010760	negative regulation of macrophage chemotaxis	IEA	biological process
GO:0016020	membrane	TAS	cellular component
GO:0016125	sterol metabolic process	TAS	biological process
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	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060736	prostate gland growth	IEA	biological process
GO:0070330	aromatase activity	IDA	molecular function
GO:0002677	negative regulation of chronic inflammatory response	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0006703	estrogen biosynthetic process	TAS	biological process
GO:0008209	androgen metabolic process	IEA	biological process
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0009055	electron carrier activity	TAS	molecular function
GO:0010760	negative regulation of macrophage chemotaxis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
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	IEA	molecular function
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	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060736	prostate gland growth	IEA	biological process
GO:0070330	aromatase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0006703	estrogen biosynthetic process	TAS	biological process
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0009055	electron carrier activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0016125	sterol metabolic process	TAS	biological process
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	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0070330	aromatase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04913	Ovarian steroidogenesis

Diseases

Associated diseases	References
Cancer (leiomyoma)	GAD: 18601603
Cancer (lung)	GAD: 18593984
Cancer (lymphoma)	GAD: 18636124
Cancer (ovarian)	GAD: 18086758
Cancer (prostate)	GAD: 11571725
Cancer	GAD: 14508827
Cancer (Adenocarcinoma)	GAD: 18491956
Cancer (bladder)	GAD: 19692168
Cancer (colorectal)	GAD: 16202920
Cancer (endometrial)	GAD: 15072828
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 20453000
Cancer (Hepatocellular)	GAD: 19064581
Cancer (stomach)	GAD: 19015200
Cancer (testicular)	GAD: 19776291
Cancer (breast)	GAD: 15241822
Hypertension	GAD: 17893373
Atherosclerosis	GAD: 16045239
Cardiovascular disease	GAD: 16045239
Cardiovascular disease	GAD: 18445666
Peripheral vascular disease	GAD: 19194457
Primary ciliary dyskinesia	KEGG: H00564
Hyperandrogenism	GAD: 15802318
Alopecia areata	GAD: 19438456
Arthritis	GAD: 12154211
Rheumatoid arthritis	GAD: 19555469
Insulin resistance	GAD: 18505907
Obesity	GAD: 20881004
Diabetes	GAD: 16949391
Osteoporosis	GAD: 15074077
Bone diseases	GAD: 16344016
Degenerative arthropathy	GAD: 20417295
Migraine disorder	GAD: 19093296
Alzheimer's disease	GAD: 19879925
Parkinson disease	GAD: 18568448
Attention deficit disorder conduct disorder oppositional defiant disorder	GAD: 11140838
Autism	GAD: 19598235
Chronic renal failure	GAD: 21085059
Abortion	GAD: 20716560
Female pseudohermaphroditism	GAD: 9829218
Human spermatogenic defect	GAD: 18980759
Gynecomastia	GAD: 18426832
Ovarian hyperstimulation syndrome (OHSS)	GAD: 18159088
Spermatogenesis defects	GAD: 18980759
Recurrent pregnancy loss (RPL)	GAD: 17359589
Premature ovarian failure (POF)	GAD: 20797716
46, XX disorder of sex differentiation	INFBASE: 21521281
Female infertility	INFBASE: 26279340
Ambiguous genitalia	INFBASE: 8265607
Ambiguous genitalia	INFBASE: 14602738
Poor ovarian response (POR)	INFBASE: 21474127
Pelvic endometriosis	INFBASE: 15309998
Endometriosis-associated infertility	INFBASE: 27167072
Endometrial polyp	INFBASE: 25354862
Female infertility	INFBASE: 19549443
Hypergonadotropic hypogonadism	INFBASE: 9177373
Endometriosis	INFBASE: 8550748
Hypergonadotropic hypogonadism	INFBASE: 8200927
Miscarriage	INFBASE: 19152063
Polycystic ovary syndrome (PCOS)	INFBASE: 15695318
Polycystic ovary syndrome (PCOS)	INFBASE: 22951915
Ovarian hyperstimulation syndrome (OHSS)	INFBASE: 18159088
Female pseudohermaphroditism	INFBASE: 8200927
Aromatase excess syndrome	KEGG: H00794
Male factor infertility	MIK: 16213843
Male factor infertility	MIK: 16213843
Sperm concentration	MIK: 21217768
Teratozoospermia	MIK: 23252370
Sperm motility	MIK: 21217768
Oligozoospermia	MIK: 16213843
Sertoli cell only syndrome (SCOS)	MIK: 19906189
Sertoli cell only syndrome (SCOS)	MIK: 19906189
Spermatogenesis defects	MIK: 23001776
Male factor infertility	MIK: 16873132
Oligozoospermia	MIK: 18980759
Spermatogenesis defects	MIK: 19906189
Aromatase deficiency	OMIM: 107910
Asthenozoospermia	MIK: 23252370
Azoospermia	MIK: 16213843
Endometriosis	INFBASE: 15640252
Azoospermia	MIK: 23001776
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Connective tissue diseases	GAD: 19527514
Associated with sperm motility	MIK: 12606587
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Asthenozoospermia	MIK: 23252370
Teratozoospermia	MIK: 23252370
Azoospermia	MIK: 16213843
Oligozoospermia	MIK: 16213843
Male infertility	MIK: 16873132
Oligozoospermia	MIK: 18980759
Impaired spermatogenesis	MIK: 18980759
Sperm concentration	MIK: 23001776
Sperm motility	MIK: 21217768
Spermatogenic failure	MIK: 19906189
Sertoli cell-only syndrome	MIK: 19906189

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16213843	Azoospermia, Oligozoospermia	ESR1 g.938T>C, FSHR Ser680Asn, ESR2 *39A>G, CYP19A1 *19C>T, and NRIP1 Gly75Gly polymorphism	Spanish	199 (104 men with azoospermia or severe oligozoospermia, 95 healthy controls)	Male infertility	ESR1 FSHR ESR2 CYP19A1 NRIP1
16213843	Azoospermia, oligospermia	ESR1 g.938T>C, FSHR Ser680Asn, ESR2 *39A>G, CYP19A1 *19C>T, and NRIP1 Gly75Gly	Spanish	199 (104 men with azoospermia or severe oligozoospermia, 95 race-matched healthy controls)	Male infertility	ESR1 FSHR ESR2 CYP19A1 and NRIP1
24762434	Male infertility		Japanes e, Chin ese	186 (47 NOA, 11 OA, 20 NOA, 10 OA, 18 healthy Chinese men with children, 12 healthy men who were semen donors, 15 healthy volunteers, 42 Chinese patients with NOA, 11 Chinese patients with OA)	Male infertility
24705274	Male infertility, Female infertility	R192H mutation in the CYP19A1 gene		2 (1 46,XX undervirilized newborn, 46,XY brother, but no virilization)	Male infertility, Female infertility
21217768	Sperm concentration, Sperm motility	CYP19 (TTTA)(n) polymorphism		150 (90 normozoospermic, 60 oligospermic)	Male infertility
19906189	Spermatogenic failure, Sertoli cell-only syndrome			90 (24 men with complete Sertoli cell-only syndrome (SCOS), 14 with focal SCOS, 14 with maturation arrest (MA), 8 with mixed atrophy and 30 controls with normal spermatogenesis)	Male infertility
16213843	Male idiopathic infertility	ESR1 g.938T>C, FSHR Ser680Asn, ESR2 *39A>G, CYP19A1*19C>T, and NRIP1 Gly75Gly polymorphism	Spanish	199 (104 with azoospermia or severe oligozoospermia, 95 unselected race-matched healthy controls)	Male infertility	ESR1 FSHR ESR2  CYP19A1 and NRIP1
23001776	Oligozoospermic, normozoospermic, sperm concentration and motility	AR(CAG)(n), CYP19(TTTA)(n) polymorphisms		450 (200 oligozoospermic, 250 normozoospermic men )	Male infertility	AR CYP19
16873132	Male infertility				Male infertility	CCR5 P450arom
18980759	Oligozoospermia, azoospermia, impaired spermatogenesis	(rs180113 of ER-alpha gene, rs1256049 of ER-beta gene, rs1048943 of CYP1A1 gene, rs8191246 of HSD17B2 gene, and rs1799941 along with rs6259 of SHBG gene	Taiwane se Han	303 (183 oligozoospermatic (sperm count <20 x 10(6)/mL) or azoospermatic males, 120 fertile control males)	Male infertility	ER-alpha ER-beta CYP17 CYP19A1 HSD17B2 CYP1A1 CYP1B1 COMT SHBG
23252370	Asthenozoospermia, teratozoospermia			57 (16 asthenozoospermia, 12 teratozoospermia, 11 asthenoteratozoospermia, 18 normozoospermic)	Male infertility	aromatase
12606587	Associated with sperm motility				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881