Format

Send to:

Choose Destination

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

Gene ID: 1588, updated on 5-Aug-2018
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; Vega:OTTHUMG00000131747
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
See CYP19A1 in Genome Data Viewer
Location:
15q21.2
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (51208057..51338598, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (51500254..51630795, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 4 subunit epsilon 1 Neighboring gene DDB1 and CUL4 associated factor 13 pseudogene 3 Neighboring gene MIR4713 host gene Neighboring gene TNF alpha induced protein 8 like 3 Neighboring gene Sharpr-MPRA regulatory regions 2939 and 12041 Neighboring gene CYP19A1 promoter II/1.3 Neighboring gene CYP19A1 promoter I.7 Neighboring gene microRNA 4713 Neighboring gene CYP19A1 promoter I.4 Neighboring gene uncharacterized LOC112268146 Neighboring gene CYP19A1 promoter I.1 Neighboring gene microRNA 7973-2 Neighboring gene microRNA 7973-1 Neighboring gene gliomedin Neighboring gene Dmx like 2

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Aromatase deficiency
MedGen: C1960539 OMIM: 613546 GeneReviews: Not available
Compare labs
Familial gynecomastia, due to increased aromatase activity
MedGen: C1970109 OMIM: 139300 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
NHGRI GWA Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog
Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
NHGRI GWA Catalog
Genome-wide association study in Han Chinese identifies three novel loci for human height.
NHGRI GWA Catalog
Genome-wide association study of age at menarche in African-American women.
NHGRI GWA Catalog
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
NHGRI GWA Catalog
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC104309

Gene Ontology Provided by GOA

Process Evidence Code Pubs
androgen catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
estrogen biosynthetic process TAS
Traceable Author Statement
more info
 
female genitalia development IEA
Inferred from Electronic Annotation
more info
 
female gonad development IEA
Inferred from Electronic Annotation
more info
 
mammary gland development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of chronic inflammatory response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of macrophage chemotaxis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of estradiol secretion IDA
Inferred from Direct Assay
more info
PubMed 
prostate gland growth IEA
Inferred from Electronic Annotation
more info
 
steroid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
sterol metabolic process TAS
Traceable Author Statement
more info
 
testosterone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
uterus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
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

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
    5001..135542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000103.3NP_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
    UniProtKB/TrEMBL
    A0A024R5S8, Q8IYG4, Q8TCA4
    Related
    ENSP00000379683.1, OTTHUMP00000162543, ENST00000396402.5, OTTHUMT00000254669
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  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
    UniProtKB/TrEMBL
    A0A024R5S8
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  3. NM_001347249.1NP_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
    UniProtKB/TrEMBL
    A0A024R5S8
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  4. NM_001347250.1NP_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
    UniProtKB/TrEMBL
    A0A024R5S8
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  5. NM_001347251.1NP_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
    UniProtKB/TrEMBL
    A0A024R5S8
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  6. NM_001347252.1NP_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
    UniProtKB/TrEMBL
    A0A024R5S8
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  7. NM_001347253.1NP_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
    UniProtKB/TrEMBL
    A0A024R5S8
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  8. NM_001347254.1NP_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
    UniProtKB/TrEMBL
    A0A024R5S8
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  9. NM_001347255.1NP_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
    UniProtKB/TrEMBL
    A0A024R5S8
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  10. NM_001347256.1NP_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
    UniProtKB/TrEMBL
    A0A024R5S8
    Related
    ENSP00000453149.1, ENST00000559878.5
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  11. NM_031226.2NP_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, BC022896, BQ024157
    Consensus CDS
    CCDS10139.1
    UniProtKB/Swiss-Prot
    P11511
    UniProtKB/TrEMBL
    A0A024R5S8, A8K6W3, Q05CU4, Q8TCA4
    Related
    ENSP00000379685.4, OTTHUMP00000198352, ENST00000396404.8, OTTHUMT00000319759
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    51208057..51338598 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center