Human Gene CYP19A1 (uc010bey.1)
  Description: Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 1, mRNA.
RefSeq Summary (NM_031226): 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].
Transcript (Including UTRs)
   Position: hg19 chr15:51,514,546-51,630,795 Size: 116,250 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr15:51,514,547-51,535,109 Size: 20,563 Coding Exon Count: 4 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:51,514,546-51,630,795)mRNA (may differ from genome)Protein (209 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CYP19A1
CDC HuGE Published Literature: CYP19A1
Positive Disease Associations: adult male height , Amyloid beta-Peptides , aromatase excess syndrome , Body Height , bone density , bone density; fractures , bone density; fractures, vertebral , bone mass , breast cancer , diabetes, type 2 insulin metabolic syndrome , endometrial cancer , endometriosis , Female pseudohermaphroditism , height , hormone disturbance , hyperandrogenism , menopause , Obesity|Natural Menopause|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder , osteoporosis, postmenopausal , osteoporosis, postmenopausal; bone density; hormone disturbance , prostate cancer , prostate carcinoma
Related Studies:
  1. adult male height
    Ellis JA et al. 2001, Significant population variation in adult male height associated with the Y chromosome and the aromatase gene., The Journal of clinical endocrinology and metabolism. 2001 Sep;86(9):4147-50. [PubMed 11549641]
  2. Amyloid beta-Peptides
    Mi-Ryung Han et al. BMC neurology 2011, , BMC neurology. [PubMed 20932310]
    Our genome-wide association analysis identified several SNPs as important factors for CSF biomarker. We also provide new evidence for additional candidate genetic risk factors from pathway analysis that can be tested in further studies.
  3. aromatase excess syndrome
    Stratakis CA et al. 1998, The aromatase excess syndrome is associated with feminization of both sexes and autosomal dominant transmission of aberrant P450 aromatase gene transcription., The Journal of clinical endocrinology and metabolism. 1998 Apr;83(4):1348-57. [PubMed 9543166]
           more ... click here to view the complete list

-  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           more ... click here to view the complete list

+  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 -163.16477-0.342 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

Pfam Domains:
PF00067 - Cytochrome P450

SCOP Domains:
48264 - Cytochrome P450

ModBase Predicted Comparative 3D Structure on Q8IYJ7
FrontTopSide
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 Details     
Gene Sorter     
      
      
      

-  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.
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].
S96437 - aromatase cytochrome P-450 (P-450AROM) {exon I.2} [human, placenta, mRNA, 971 nt].

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00140 - Steroid hormone biosynthesis
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: BC022896, NM_031226, NP_112503, Q8IYJ7, Q8IYJ7_HUMAN
UCSC ID: uc010bey.1
RefSeq Accession: NM_031226
Protein: Q8IYJ7

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC022896.1
exon count: 7CDS single in 3' UTR: no RNA size: 1930
ORF size: 627CDS single in intron: no Alignment % ID: 99.89
txCdsPredict score: 1179.00frame shift in genome: no % Coverage: 51.45
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.