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

Gene ID: 1588, updated on 5-Mar-2024

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
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Genomic context

See CYP19A1 in Genome Data Viewer
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_000015.10Genomic Context describing neighboring genes Neighboring gene MIR4713 host gene Neighboring gene TNF alpha induced protein 8 like 3 Neighboring gene uncharacterized LOC124903491 Neighboring gene uncharacterized LOC124903492 Neighboring gene Sharpr-MPRA regulatory region 3311 Neighboring gene Sharpr-MPRA regulatory regions 2939 and 12041 Neighboring gene CYP19A1 promoter II/1.3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:51559063-51559696 Neighboring gene CYP19A1 promoter I.7 Neighboring gene microRNA 4713 Neighboring gene uncharacterized LOC124903493 Neighboring gene CYP19A1 promoter I.4 Neighboring gene uncharacterized LOC112268146 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:51621311-51621511 Neighboring gene microRNA 7973-1 Neighboring gene CYP19A1 promoter I.1 Neighboring gene microRNA 7973-2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:51678296-51678796 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:51682661-51683516 Neighboring gene gliomedin Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:51741640-51742839 Neighboring gene Dmx like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:51861014-51861520 Neighboring gene Sharpr-MPRA regulatory region 1269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6432

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog
Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
EBI GWAS Catalog
Genome-wide association study in Han Chinese identifies three novel loci for human height.
EBI GWAS Catalog
Genome-wide association study of age at menarche in African-American women.
EBI GWAS Catalog
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
EBI GWAS Catalog
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC104309

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in androgen catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in electron transport chain IEA
Inferred from Electronic Annotation
more info
 
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

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
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
NP_112503.1

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

  1. NG_007982.1 RefSeqGene

    Range
    5003..135542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000103.4NP_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:72485
    CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
  2. NM_001347248.1NP_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:72485
    CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
  3. NM_001347249.2NP_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:72485
    CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
  4. NM_001347250.2NP_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:72485
    CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
  5. NM_001347251.2NP_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:72485
    CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
  6. NM_001347252.2NP_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:72485
    CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
  7. NM_001347253.2NP_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:72485
    CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
  8. NM_001347254.2NP_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:72485
    CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
  9. NM_001347255.2NP_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:72485
    CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
  10. NM_001347256.2NP_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:72485
    CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
  11. NM_031226.3NP_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:72485
    CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    51208057..51338596 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    49015801..49146366 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)