Human Gene CYP19A1 (ENST00000396402.6_7) from GENCODE V47lift37
  Description: cytochrome P450 family 19 subfamily A member 1, transcript variant 10 (from RefSeq NM_001347255.2)
Gencode Transcript: ENST00000396402.6_7
Gencode Gene: ENSG00000137869.16_15
Transcript (Including UTRs)
   Position: hg19 chr15:51,500,254-51,630,793 Size: 130,540 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr15:51,503,005-51,535,109 Size: 32,105 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:51,500,254-51,630,793)mRNA (may differ from genome)Protein (503 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CP19A_HUMAN
DESCRIPTION: RecName: Full=Cytochrome P450 19A1; EC=1.14.14.1; AltName: Full=Aromatase; AltName: Full=CYPXIX; AltName: Full=Cytochrome P-450AROM; AltName: Full=Estrogen synthase;
FUNCTION: Catalyzes the formation of aromatic C18 estrogens from C19 androgens.
CATALYTIC ACTIVITY: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O.
COFACTOR: Heme group.
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein.
TISSUE SPECIFICITY: Brain, placenta and gonads.
DISEASE: Defects in CYP19A1 are a cause of aromatase excess syndrome (AEXS) [MIM:139300]; also known as familial gynecomastia. AEXS is characterized by an estrogen excess due to an increased aromatase activity.
DISEASE: Defects in CYP19A1 are the cause of aromatase deficiency (AROD) [MIM:613546]. AROD is a rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries.
SIMILARITY: Belongs to the cytochrome P450 family.
WEB RESOURCE: Name=Wikipedia; Note=Aromatase entry; URL="http://en.wikipedia.org/wiki/Aromatase";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP19A1";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp19a1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CYP19A1
Diseases sorted by gene-association score: aromatase deficiency* (1690), aromatase excess syndrome* (1278), endometriosis (36), estrogen excess (29), uterine disease (26), gynecomastia (24), transsexualism (23), gender identity disorder (23), leydig cell tumor (20), hypoactive sexual desire disorder (18), myoma (18), pseudohermaphroditism (16), estrogen-receptor positive breast cancer (14), ovarian disease (14), polycystic ovary syndrome (14), anovulation (14), antley-bixler syndrome (13), testotoxicosis (12), endometrial disease (12), infertility (12), peutz-jeghers syndrome (11), breast cancer (11), osteoporosis (11), choriocarcinoma (10), benign metastasizing leiomyoma (10), ovarian hyperstimulation syndrome (10), progesterone-receptor positive breast cancer (9), precocious puberty, male (9), endometrial stromal sarcoma (9), leiomyoma (9), precocious puberty (9), prostatic hypertrophy (9), breast fibroadenoma (8), androgenic alopecia (8), hyperandrogenism (8), androgen insensitivity, partial, with or without breast cancer (8), endocrine gland cancer (8), androgen insensitivity (8), endometrial cancer (7), female reproductive system disease (7), estrogen resistance (7), luteoma (7), oocyte maturation defect 1 (7), hypertensive encephalopathy (7), premature ovarian failure 1 (7), ductal carcinoma in situ (7), endometrial stromal nodule (6), alopecia, androgenetic, 1 (6), endometriosis of ovary (6), osteonecrosis of the jaw (6), adrenal cortical carcinoma (6), sex cord-gonadal stromal tumor (6), sex differentiation disease (5), uterine fibroid (5), complete androgen insensitivity syndrome (5), prostate disease (5), primary pigmented nodular adrenocortical disease (5), mycetoma (5), juvenile nasopharyngeal angiofibroma (5), reproductive system disease (5), uterine sarcoma (4), amyotrophic lateral sclerosis type 10 (4), acute contagious conjunctivitis (4), prostate cancer (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.08 RPKM in Cells - Cultured fibroblasts
Total median expression: 11.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.90140-0.299 Picture PostScript Text
3' UTR -717.302751-0.261 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001128 - Cyt_P450
IPR017972 - Cyt_P450_CS
IPR002401 - Cyt_P450_E_grp-I

Pfam Domains:
PF00067 - Cytochrome P450

SCOP Domains:
48264 - Cytochrome P450

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1TQA - Model 3EQM - X-ray 3S79 - X-ray MuPIT 3S7S - X-ray MuPIT 4GL5 - X-ray 4GL7 - X-ray


ModBase Predicted Comparative 3D Structure on P11511
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004497 monooxygenase activity
GO:0005506 iron ion binding
GO:0008395 steroid hydroxylase activity
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
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
GO:0019825 oxygen binding
GO:0020037 heme binding
GO:0046872 metal ion binding
GO:0070330 aromatase activity

Biological Process:
GO:0002677 negative regulation of chronic inflammatory response
GO:0006694 steroid biosynthetic process
GO:0006703 estrogen biosynthetic process
GO:0006710 androgen catabolic process
GO:0008209 androgen metabolic process
GO:0008585 female gonad development
GO:0010760 negative regulation of macrophage chemotaxis
GO:0016125 sterol metabolic process
GO:0022900 electron transport chain
GO:0030540 female genitalia development
GO:0030879 mammary gland development
GO:0055114 oxidation-reduction process
GO:0060065 uterus development
GO:0060736 prostate gland growth
GO:0061370 testosterone biosynthetic process
GO:2000866 positive regulation of estradiol secretion

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  Y07508 - Human mRNA for aromatase P-450.
M22246 - Human aromatase mRNA, complete cds.
X13589 - Human mRNA for aromatase (estrogen synthetase).
BC035959 - Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1, mRNA (cDNA clone MGC:32521 IMAGE:4770068), complete cds.
BC022896 - Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1, mRNA (cDNA clone IMAGE:4714085), complete cds.
M28420 - Human cytochrome P-450 aromatase mRNA, complete cds.
J04127 - Human aromatase system cytochrome P-450 (P450XIX) mRNA, complete cds.
M18856 - Human aromatase (Aro1) mRNA, complete cds.
BC107785 - Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1, mRNA (cDNA clone MGC:104309 IMAGE:6663647), complete cds.
AK291778 - Homo sapiens cDNA FLJ75846 complete cds, highly similar to Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 1, mRNA.
KJ901372 - Synthetic construct Homo sapiens clone ccsbBroadEn_10766 CYP19A1 gene, encodes complete protein.
DQ118405 - Homo sapiens cytochrome P450 subfamily 19 subfamily A polypeptide 1 (CYP19A1) mRNA, complete cds.
KJ896684 - Synthetic construct Homo sapiens clone ccsbBroadEn_06078 CYP19A1 gene, encodes complete protein.
KR711271 - Synthetic construct Homo sapiens clone CCSBHm_00022138 CYP19A1 (CYP19A1) mRNA, encodes complete protein.
KR711272 - Synthetic construct Homo sapiens clone CCSBHm_00022139 CYP19A1 (CYP19A1) mRNA, encodes complete protein.
KR711273 - Synthetic construct Homo sapiens clone CCSBHm_00022143 CYP19A1 (CYP19A1) mRNA, encodes complete protein.
KR711274 - Synthetic construct Homo sapiens clone CCSBHm_00022146 CYP19A1 (CYP19A1) mRNA, encodes complete protein.
AB463556 - Synthetic construct DNA, clone: pF1KB8363, Homo sapiens CYP19A1 gene for cytochrome P450, family 19, subfamily A, polypeptide 1, without stop codon, in Flexi system.
AM392533 - Synthetic construct Homo sapiens clone IMAGE:100002597 for hypothetical protein (CYP19A1 gene).
AM393184 - Synthetic construct Homo sapiens clone IMAGE:100002595 for hypothetical protein (CYP19A1 gene).
BC020767 - Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1, mRNA (cDNA clone IMAGE:4769332), partial cds.
BC056258 - Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1, mRNA (cDNA clone IMAGE:4768802), partial cds.
CU690230 - Synthetic construct Homo sapiens gateway clone IMAGE:100022330 5' read CYP19A1 mRNA.
JD298131 - Sequence 279155 from Patent EP1572962.
JD053113 - Sequence 34137 from Patent EP1572962.
JD120454 - Sequence 101478 from Patent EP1572962.
JD521595 - Sequence 502619 from Patent EP1572962.
JD132587 - Sequence 113611 from Patent EP1572962.
JD275553 - Sequence 256577 from Patent EP1572962.
JD565532 - Sequence 546556 from Patent EP1572962.
JD026131 - Sequence 7155 from Patent EP1572962.
JD360182 - Sequence 341206 from Patent EP1572962.
JD034083 - Sequence 15107 from Patent EP1572962.
JD110709 - Sequence 91733 from Patent EP1572962.
JD287786 - Sequence 268810 from Patent EP1572962.
JD068120 - Sequence 49144 from Patent EP1572962.
JD368818 - Sequence 349842 from Patent EP1572962.
JD147328 - Sequence 128352 from Patent EP1572962.
JD521229 - Sequence 502253 from Patent EP1572962.
JD046705 - Sequence 27729 from Patent EP1572962.
JD524950 - Sequence 505974 from Patent EP1572962.
S58866 - aromatase {exons 6 and 7, intron 6} [human, placenta, mRNA Partial Mutant, 126 nt].
S85075 - estrogen synthetase {exon 6-intron 6-exon 7} [human, placenta, mRNA Partial Mutant, 126 nt].
BC035714 - Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1, mRNA (cDNA clone IMAGE:5588077), complete cds.
CU690172 - Synthetic construct Homo sapiens gateway clone IMAGE:100018039 5' read CYP19A1 mRNA.
KJ901371 - Synthetic construct Homo sapiens clone ccsbBroadEn_10765 CYP19A1 gene, encodes complete protein.
CU692754 - Synthetic construct Homo sapiens gateway clone IMAGE:100022044 5' read CYP19A1 mRNA.
S52794 - aromatase cytochrome P-450 {5' region, alternatively spliced, exon 1-2 splice junction} [human, ovary, mRNA Partial, 125 nt].
S52789 - aromatase cytochrome P-450 {5' region, alternatively spliced, exon 1-2 splice junction} [human, skin fibroblasts, mRNA Partial, 106 nt].
S52793 - aromatase cytochrome P-450 {5' region, alternatively spliced, exon 1-2 splice junction} [human, placenta, mRNA Partial, 149 nt].

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7305 - superpathway of steroid hormone biosynthesis
PWY-7306 - estradiol biosynthesis II
PWY66-380 - estradiol biosynthesis I (via estrone)

Reactome (by CSHL, EBI, and GO)

Protein P11511 (Reactome details) participates in the following event(s):

R-HSA-193060 CYP19A1 hydroxylates ANDST to E1
R-HSA-193143 CYP19A1 hydroxylates TEST to EST17b
R-HSA-193144 Estrogen biosynthesis
R-HSA-211976 Endogenous sterols
R-HSA-196071 Metabolism of steroid hormones
R-HSA-209943 Steroid hormones
R-HSA-211897 Cytochrome P450 - arranged by substrate type
R-HSA-8957322 Metabolism of steroids
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-556833 Metabolism of lipids
R-HSA-211859 Biological oxidations
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ARO1, CP19A_HUMAN, CYAR, CYP19, CYP19A1 , ENST00000396402.1, ENST00000396402.2, ENST00000396402.3, ENST00000396402.4, ENST00000396402.5, NM_001347255, P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7, uc318yfp.1, uc318yfp.2
UCSC ID: ENST00000396402.6_7
RefSeq Accession: NM_000103.4
Protein: P11511 (aka CP19A_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.