CYP19A1 cytochrome P450 family 19 subfamily A member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP19A1provided by HGNC
Official Full Name: cytochrome P450 family 19 subfamily A member 1provided by HGNC
Primary source: HGNC:HGNC:2594
See related: Ensembl:ENSG00000137869 MIM:107910; AllianceGenome:HGNC:2594
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX; P-450AROM
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]
Expression: Restricted expression toward placenta (RPKM 83.2) See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (51208057..51338596, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (49015801..49146366, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (51500254..51630793, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Charged Amino Acids in the Transmembrane Helix Strongly Affect the Enzyme Activity of Aromatase.
Title: Charged Amino Acids in the Transmembrane Helix Strongly Affect the Enzyme Activity of Aromatase.
The relationship between CYP19A1 gene expression in luteinized granulosa cells and follicular estradiol output in women with endometriosis.
Title: The relationship between CYP19A1 gene expression in luteinized granulosa cells and follicular estradiol output in women with endometriosis.
SNP of Aromatase Predict Long-term Survival and Aromatase Inhibitor Toxicity in Patients with Early Breast Cancer: A Biomarker Analysis of the GIM4 and GIM5 Trials.
Title: SNP of Aromatase Predict Long-term Survival and Aromatase Inhibitor Toxicity in Patients with Early Breast Cancer: A Biomarker Analysis of the GIM4 and GIM5 Trials.
Intratumoral cortisol associated with aromatase in the endometrial cancer microenvironment.
Title: Intratumoral cortisol associated with aromatase in the endometrial cancer microenvironment.
CYP19A1 promotes gastric cancer as part of a lipid metabolism-related gene signature related to the response of immunotherapy and prognosis.
Title: CYP19A1 promotes gastric cancer as part of a lipid metabolism-related gene signature related to the response of immunotherapy and prognosis.
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males.
Title: CYP19A1 mediates severe SARS-CoV-2 disease outcome in males.
Association of CYP19A1 Gene, Plasma Zinc, and Urinary Zinc with the Risk of Type 2 Diabetes Mellitus in a Chinese Population.
Title: Association of CYP19A1 Gene, Plasma Zinc, and Urinary Zinc with the Risk of Type 2 Diabetes Mellitus in a Chinese Population.
Association between barium exposed, CYP19A1 and central obesity: A cross-sectional study in rural China.
Title: Association between barium exposed, CYP19A1 and central obesity: A cross-sectional study in rural China.
Genetic polymorphisms related to muscular strength and flexibility are associated with artistic gymnastic performance in the Japanese population.
Title: Genetic polymorphisms related to muscular strength and flexibility are associated with artistic gymnastic performance in the Japanese population.
Evaluation of the Relationship between Aromatase/Sirtuin1 Interaction and miRNA Expression in Human Neuroblastoma Cells.
Title: Evaluation of the Relationship between Aromatase/Sirtuin1 Interaction and miRNA Expression in Human Neuroblastoma Cells.

Submit: New GeneRIF Correction See all GeneRIFs (642)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Aromatase deficiency MedGen: C1960539 OMIM: 613546 GeneReviews: Not available	Compare labs
Aromatase excess syndrome MedGen: C1970109 OMIM: 139300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association reveals genetic effects on human A&#x003b2;42 and &#x003c4; protein levels in cerebrospinal fluids: a case control study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in Han Chinese identifies three novel loci for human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of age at menarche in African-American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S1265 (e-PCR)
- UniSTS:35334

GDB:212661 (e-PCR)
- UniSTS:156173

RH48681 (e-PCR)
- UniSTS:69648

RH98549 (e-PCR)
- UniSTS:88867

D18S1229 (e-PCR)
- UniSTS:7988

RH15683 (e-PCR)
- UniSTS:79159

RH92302 (e-PCR)
- UniSTS:91713

RH93865 (e-PCR)
- UniSTS:84297

STS-T97650 (e-PCR)
- UniSTS:32081

SGC35215 (e-PCR)
- UniSTS:10834

A004G01 (e-PCR)
- UniSTS:15196

G54032 (e-PCR)
- UniSTS:109414

RH68609 (e-PCR)
- UniSTS:84600

RH77832 (e-PCR)
- UniSTS:74876

RH69825 (e-PCR)
- UniSTS:1661

SHGC-34187 (e-PCR)
- UniSTS:5501

SHGC-132074 (e-PCR)
- UniSTS:170630

G62528 (e-PCR)
- UniSTS:139657

G67138 (e-PCR)
- UniSTS:178324

G67130 (e-PCR)
- UniSTS:178325

G67131 (e-PCR)
- UniSTS:178326

G67132 (e-PCR)
- UniSTS:178327

G67133 (e-PCR)
- UniSTS:178328

G67134 (e-PCR)
- UniSTS:178329

RH44625 (e-PCR)
- UniSTS:47769

G67135 (e-PCR)
- UniSTS:178330

G67136 (e-PCR)
- UniSTS:178331

G67128 (e-PCR)
- UniSTS:178332

G67129 (e-PCR)
- UniSTS:178333

G67137 (e-PCR)
- UniSTS:178334

G67126 (e-PCR)
- UniSTS:178335

G67127 (e-PCR)
- UniSTS:178336

SHGC-145291 (e-PCR)
- UniSTS:174497

WI-11891 (e-PCR)
- UniSTS:22950

D18S1229 (e-PCR)
- UniSTS:41649

RH77814 (e-PCR)
- UniSTS:29365

RH17900 (e-PCR)
- UniSTS:19906

RH17833 (e-PCR)
- UniSTS:72389

STS-T49215 (e-PCR)
- UniSTS:51401

SHGC-34077 (e-PCR)
- UniSTS:39882

L77297 (e-PCR)
- UniSTS:22481

D15S1206 (e-PCR)
- UniSTS:26591

WI-2834 (e-PCR)
- UniSTS:26592

G67172 (e-PCR)
- UniSTS:186345

SHGC-144488 (e-PCR)
- UniSTS:172268

RH121140 (e-PCR)
- UniSTS:134135

CYP19-3 (e-PCR)
- UniSTS:253945

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aromatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aromatase activity	IDA Inferred from Direct Assay more info	PubMed
enables electron transfer activity	TAS Traceable Author Statement more info	PubMed
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables 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 Traceable Author Statement more info	PubMed
enables oxygen binding	TAS Traceable Author Statement more info	PubMed
enables steroid hydroxylase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in androgen catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen biosynthetic process	TAS Traceable Author Statement more info
involved_in female genitalia development	IEA Inferred from Electronic Annotation more info
involved_in female gonad development	IBA Inferred from Biological aspect of Ancestor more info
involved_in mammary gland development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of chronic inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of macrophage chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of estradiol secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in prostate gland growth	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in sterol metabolic process	TAS Traceable Author Statement more info
involved_in syncytium formation	TAS Traceable Author Statement more info	PubMed
involved_in testosterone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in uterus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: aromatase

Names: 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

NP_000094.2

EC 1.14.14.14

NP_001334177.1

EC 1.14.14.14

NP_001334178.1

EC 1.14.14.14

NP_001334179.1

EC 1.14.14.14

NP_001334180.1

EC 1.14.14.14

NP_001334181.1

EC 1.14.14.14

NP_001334182.1

EC 1.14.14.14

NP_001334183.1

EC 1.14.14.14

NP_001334184.1

EC 1.14.14.14

NP_001334185.1

EC 1.14.14.14

NP_112503.1

EC 1.14.14.14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007982.1 RefSeqGene

Range

5003..135542

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000103.4 → NP_000094.2 aromatase

See identical proteins and their annotated locations for NP_000094.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the use of an alternate promoter and contains an alternate 5' exon (I.1), compared to variant 4. All variants encode the same protein. The 5' end of this transcript contains long terminal repeat (LTR) sequence, initiates from an LTR promoter and results in placenta-specific expression. (PMID: 19577618)

Source sequence(s)

AC012169, BC022896, BC035959, BG621764, BQ024157, DA853862, Y07508

Consensus CDS

CCDS10139.1

UniProtKB/Swiss-Prot

P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7

UniProtKB/TrEMBL

A8K6W3, Q45RG7, Q8IYG4

Related

ENSP00000379683.1, ENST00000396402.6

Conserved Domains (1) summary

cd20616
Location:72 → 485

CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
NM_001347248.1 → NP_001334177.1 aromatase

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the use of an alternate promoter and contains an alternate 5' terminal exon (2a), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in placenta.

Source sequence(s)

AC012169, AC020891, BQ024157

Consensus CDS

CCDS10139.1

UniProtKB/Swiss-Prot

P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7

UniProtKB/TrEMBL

A8K6W3, Q45RG7, Q8IYG4

Conserved Domains (1) summary

cd20616
Location:72 → 485

CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
NM_001347249.2 → NP_001334178.1 aromatase

Status: REVIEWED

Description

Transcript Variant: This variant (4) represents the longest transcript. It represents the use of an alternate promoter and contains alternate 5' terminal exon (I.4). All variants encode the same protein. Expression of this variant has been found in adipose tissue.

Source sequence(s)

AC012169, AC020891, BQ024157

Consensus CDS

CCDS10139.1

UniProtKB/Swiss-Prot

P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7

UniProtKB/TrEMBL

A8K6W3, Q45RG7, Q8IYG4

Conserved Domains (1) summary

cd20616
Location:72 → 485

CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
NM_001347250.2 → NP_001334179.1 aromatase

Status: REVIEWED

Description

Transcript Variant: This variant (5) represents the use of an alternate promoter and contains alternate 5' terminal exon (I.5), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in fetal tissue.

Source sequence(s)

AC012169, AC020891, BQ024157

Consensus CDS

CCDS10139.1

UniProtKB/Swiss-Prot

P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7

UniProtKB/TrEMBL

A8K6W3, Q45RG7, Q8IYG4

Conserved Domains (1) summary

cd20616
Location:72 → 485

CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
NM_001347251.2 → NP_001334180.1 aromatase

Status: REVIEWED

Description

Transcript Variant: This variant (6) represents the use of an alternate promoter and contains alternate 5' terminal exon (I.7), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in endothelial cells and in breast cancer.

Source sequence(s)

AC012169, AC020891, BQ024157

Consensus CDS

CCDS10139.1

UniProtKB/Swiss-Prot

P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7

UniProtKB/TrEMBL

A8K6W3, Q45RG7, Q8IYG4

Conserved Domains (1) summary

cd20616
Location:72 → 485

CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
NM_001347252.2 → NP_001334181.1 aromatase

Status: REVIEWED

Description

Transcript Variant: This variant (7) represents the use of an alternate promoter and contains alternate 5' terminal exon (I.f), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in the brain.

Source sequence(s)

AC012169, AC020891, BQ024157

Consensus CDS

CCDS10139.1

UniProtKB/Swiss-Prot

P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7

UniProtKB/TrEMBL

A8K6W3, Q45RG7, Q8IYG4

Conserved Domains (1) summary

cd20616
Location:72 → 485

CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
NM_001347253.2 → NP_001334182.1 aromatase

Status: REVIEWED

Description

Transcript Variant: This variant (8) represents the use of an alternate promoter and contains alternate 5' terminal exon (I.2), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in the placenta and adipose tissue.

Source sequence(s)

AC012169, BQ024157

Consensus CDS

CCDS10139.1

UniProtKB/Swiss-Prot

P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7

UniProtKB/TrEMBL

A8K6W3, Q45RG7, Q8IYG4

Conserved Domains (1) summary

cd20616
Location:72 → 485

CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
NM_001347254.2 → NP_001334183.1 aromatase

Status: REVIEWED

Description

Transcript Variant: This variant (9) represents the use of an alternate promoter and contains the alternate 5' terminal exon (I.6), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in bones.

Source sequence(s)

AC012169, BQ024157

Consensus CDS

CCDS10139.1

UniProtKB/Swiss-Prot

P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7

UniProtKB/TrEMBL

A8K6W3, Q45RG7, Q8IYG4

Conserved Domains (1) summary

cd20616
Location:72 → 485

CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
NM_001347255.2 → NP_001334184.1 aromatase

Status: REVIEWED

Description

Transcript Variant: This variant (10) represents the use of an alternate promoter and contains the alternate 5' terminal exon (I.3), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in adipose tissue and in breast cancer.

Source sequence(s)

AC012169, BQ024157

Consensus CDS

CCDS10139.1

UniProtKB/Swiss-Prot

P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7

UniProtKB/TrEMBL

A8K6W3, Q45RG7, Q8IYG4

Conserved Domains (1) summary

cd20616
Location:72 → 485

CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
NM_001347256.2 → NP_001334185.1 aromatase

Status: REVIEWED

Description

Transcript Variant: This variant (11) represents the use of an alternate promoter and contains an alternate 5' terminal exon (PII), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in gonads and in breast cancer.

Source sequence(s)

AC012169, BQ024157

Consensus CDS

CCDS10139.1

UniProtKB/Swiss-Prot

P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7

UniProtKB/TrEMBL

A8K6W3, Q45RG7, Q8IYG4

Related

ENSP00000453149.1, ENST00000559878.5

Conserved Domains (1) summary

cd20616
Location:72 → 485

CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
NM_031226.3 → NP_112503.1 aromatase

See identical proteins and their annotated locations for NP_112503.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the use of an alternate promoter and contains alternate 5' exons (I.1 and 2a), compared to variant 4. All variants encode the same protein. The 5' end of this transcript contains long terminal repeat (LTR) sequence, initiates from an LTR promoter and results in placenta-specific expression. (PMID: 19577618)

Source sequence(s)

AC012169, AK291778, BC020767, BQ024157

Consensus CDS

CCDS10139.1

UniProtKB/Swiss-Prot

P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7

UniProtKB/TrEMBL

A8K6W3, Q45RG7, Q8IYG4

Related

ENSP00000379685.4, ENST00000396404.8

Conserved Domains (1) summary

cd20616
Location:72 → 485

CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1