Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 1588, updated on 7-Dec-2014
Official Symbol
CYP19A1provided by HGNC
Official Full Name
cytochrome P450, family 19, subfamily A, polypeptide 1provided by HGNC
Primary source
HGNC:HGNC:2594
See related
Ensembl:ENSG00000137869; HPRD:00488; 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 splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
See CYP19A1 in Epigenomics, MapViewer
Location:
15q21.1
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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, epsilon 1 subunit Neighboring gene DDB1 and CUL4 associated factor 13 pseudogene 3 Neighboring gene tumor necrosis factor, alpha-induced protein 8-like 3 Neighboring gene microRNA 4713 Neighboring gene microRNA 7973-2 Neighboring gene microRNA 7973-1 Neighboring gene gliomedin Neighboring gene Dmx-like 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Aromatase deficiency
MedGen: C0878680 OMIM: 613546 GeneReviews: Not available
Compare labs
Familial gynecomastia, due to increased aromatase activity
MedGen: C1841762 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
  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone, organism-specific biosystem (from KEGG)
    C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Sterol biosynthesis
  • C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone, conserved biosystem (from KEGG)
    C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Sterol biosynthesis
  • Cytochrome P450 - arranged by substrate type, organism-specific biosystem (from REACTOME)
    Cytochrome P450 - arranged by substrate type, organism-specific biosystemThe P450 isozyme system is the major phase 1 biotransforming system in man, accounting for more than 90% of drug biotransformations. This system has huge catalytic versatility and a broad substrate s...
  • Endogenous sterols, organism-specific biosystem (from REACTOME)
    Endogenous sterols, organism-specific biosystemA number of CYPs take part in cholesterol biosynthesis and elimination, thus playing an important role in maintaining cholesterol homeostasis. Under normal physiological conditions, cholesterol intak...
  • Estrogen biosynthesis, organism-specific biosystem (from REACTOME)
    Estrogen biosynthesis, organism-specific biosystemIn female vertebrates, estrogens control reproductive system development and reproductive functions (Payne AH and Hales DB, 2004).
  • FSH signaling pathway, organism-specific biosystem (from WikiPathways)
    FSH signaling pathway, organism-specific biosystemThe Follicle Stimulating Hormone (FSH) is an anterior pituitary gonadotropin belonging to the family of glycoprotein hormones that includes thyroid stimulating hormone (TSH), Leutinizing Hormone (LH)...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of steroid hormones and vitamin D, organism-specific biosystem (from REACTOME)
    Metabolism of steroid hormones and vitamin D, organism-specific biosystemSteroid hormones are synthesized primarily in the adrenal gland and gonads. They regulate energy metabolism and stress responses (glucocorticoids), salt balance (mineralocorticoids), and sexual devel...
  • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
    Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
  • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
    Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Ovarian steroidogenesis, conserved biosystem (from KEGG)
    Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
    Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
  • Steroid hormone biosynthesis, organism-specific biosystem (from KEGG)
    Steroid hormone biosynthesis, organism-specific biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
  • Steroid hormone biosynthesis, conserved biosystem (from KEGG)
    Steroid hormone biosynthesis, conserved biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
  • Tryptophan metabolism, organism-specific biosystem (from WikiPathways)
    Tryptophan metabolism, organism-specific biosystem
    Tryptophan metabolism
  • cytochrome P450, organism-specific biosystem (from WikiPathways)
    cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
  • estradiol biosynthesis I (via estrone), conserved biosystem (from BIOCYC)
    estradiol biosynthesis I (via estrone), conserved biosystem|FRAME: Estrogens Estrogens| are steroid hormones synthesized in the ovaries, breasts, adipose and other tissues that are critical for sexual development and function. They can also act as inducers o...
  • estradiol biosynthesis II, conserved biosystem (from BIOCYC)
    estradiol biosynthesis II, conserved biosystem|FRAME: Estrogens Estrogens| are steroid hormones synthesized in the ovaries, breasts, adipose and other tissues that are critical for sexual development and function. They can also act as inducers o...
  • estrogen biosynthesis, organism-specific biosystem (from BIOCYC)
    estrogen biosynthesis, organism-specific biosystemEstrogens are estrone and estradiol, steroid hormones synthesized in the ovaries, breasts, adipose and other tissues that are critical for sexual development and function. They can also act as induce...
  • metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    metapathway biotransformation, organism-specific biosystem
    metapathway biotransformation
  • superpathway of steroid hormone biosynthesis, conserved biosystem (from BIOCYC)
    superpathway of steroid hormone biosynthesis, conserved biosystemAs their name implies, |FRAME: Steroid-Hormones "steroid hormones"| are steroids that act as hormones. Steroid hormones are divided into five groups based on the receptors to which they bind: |FRAME:...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC104309

Gene Ontology Provided by GOA

Process Evidence Code Pubs
androgen metabolic process IEA
Inferred from Electronic Annotation
more info
 
estrogen biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
prostate gland growth IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
steroid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
steroid metabolic process TAS
Traceable Author Statement
more info
 
sterol metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
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
aromatase
estrogen synthase
estrogen synthetase
cytochrome P-450AROM
cytochrome P450 19A1
microsomal monooxygenase
flavoprotein-linked monooxygenase
cytochrome P450, subfamily XIX (aromatization of androgens)
NP_000094.2
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 

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

mRNA and Protein(s)

  1. NM_000103.3NP_000094.2  aromatase

    See proteins identical to NP_000094.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) does not include exon 2a, and thus has a shorter 5' UTR than transcript variant 2. Both variants encode the same protein.
    Source sequence(s)
    AC012169, BC022896, BC035959, BG621764, BQ024157, DA853862, Y07508
    Consensus CDS
    CCDS10139.1
    UniProtKB/TrEMBL
    A0A024R5S8
    UniProtKB/Swiss-Prot
    P11511
    UniProtKB/TrEMBL
    Q8IYG4
    UniProtKB/TrEMBL
    Q8TCA4
    Related
    ENSP00000379683, OTTHUMP00000162543, ENST00000396402, OTTHUMT00000254669
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  2. NM_031226.2NP_112503.1  aromatase

    See proteins identical to NP_112503.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes exon 2a and thus has a longer 5' UTR than transcript variant 1. Both variants encode the same protein.
    Source sequence(s)
    AC012169, AK291778, BC020767, BC022896, BQ024157
    Consensus CDS
    CCDS10139.1
    UniProtKB/TrEMBL
    A0A024R5S8
    UniProtKB/TrEMBL
    A8K6W3
    UniProtKB/Swiss-Prot
    P11511
    UniProtKB/TrEMBL
    Q05CU4
    UniProtKB/TrEMBL
    Q8TCA4
    Related
    ENSP00000260433, ENST00000260433
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

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

mRNA and Protein(s)

  1. XM_005254191.1XP_005254248.1  

    See proteins identical to XP_005254248.1

    UniProtKB/TrEMBL
    A0A024R5S8
    UniProtKB/Swiss-Prot
    P11511
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  2. XM_005254192.1XP_005254249.1  

    Conserved Domains (1) summary
    pfam00067
    Location:48426
    p450; Cytochrome P450
  3. XM_005254190.1XP_005254247.1  

    See proteins identical to XP_005254247.1

    UniProtKB/TrEMBL
    A0A024R5S8
    UniProtKB/Swiss-Prot
    P11511
    Conserved Domains (1) summary
    pfam00067
    Location:48485
    p450; Cytochrome P450
  4. XM_006720406.1XP_006720469.1  

    Conserved Domains (1) summary
    pfam00067
    Location:1383
    p450; Cytochrome P450

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

    Range
    51618344..51748904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    28330314..28460872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)