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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYP19A1 Gene

protein-coding GIFtS: 69
GCID: GC15M051500

cytochrome P450, family 19, subfamily A, polypeptide 1

(Previous names: cytochrome P450, subfamily XIX (aromatization of androgens)...)
(Previous symbol: CYP19)

Explore 176 diseases affiliated with
CYP19A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 19, Subfamily A, Polypeptide 1¹ ²		Cytochrome P-450AROM² ³
CYP19¹ ² ³ ⁵		Estrogen Synthase² ³
ARO1¹ ² ³		CYPXIX² ³
CYAR¹ ² ³		EC 1.14.14.1³ ⁸
ARO¹ ² ⁵		Cytochrome P450 19A1²
CPV1¹ ²		Estrogen Synthetase²
P-450AROM¹ ²		Flavoprotein-Linked Monooxygenase²
Aromatase³		Microsomal Monooxygenase²
Cytochrome P450, Subfamily XIX (Aromatization Of Androgens)¹ ²		Aromatase³

External Ids:	HGNC: 2594¹	Entrez Gene: 1588²	Ensembl: ENSG00000137869⁷	OMIM: 107910⁵	UniProtKB: P11511³

Export aliases for CYP19A1 gene to outside databases

Previous GC identifers: GC15M044547 GC15M049080 GC15M049217 GC15M049288 GC15M028330

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP19A1:

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, three successive hydroxylations of the A ring of androgens. 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. The gene expresses two transcript variants. (provided by RefSeq, Jul

2008)

UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511

Function: Catalyzes the formation of aromatic C18 estrogens from C19 androgens

summary for CYP19A1:

Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs

are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane.

CYPs have oxygenase activity and commonly catalyze redox reactions, involving the oxidation of the substrate

and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential

for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They

are found at high levels in the liver, where they have an important role in metabolism of drugs and

endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this

accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis,

cholesterol synthesis and vitamin D metabolism.

Gene Wiki entry for CYP19A1 (Aromatase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CYP19A1 gene promoter:
PPAR-gamma1 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CYP19A1 promoter sequence

Search SABiosciences Chromatin IP Primers for CYP19A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP19A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21.1 Ensembl cytogenetic band: 15q21.2 HGNC cytogenetic band: 15q21

CYP19A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP19A1 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M051500: view genomic region (about GC identifiers)

Start:	51,500,254 bp from pter	End:	51,630,807 bp from pter
Size:	130,554 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511 (See protein sequence)

Recommended Name: Cytochrome P450 19A1

Size: 503 amino acids; 57883 Da

Cofactor: Heme group

Subcellular location: Membrane; Peripheral membrane protein

6 PDB 3D structures from and Proteopedia for CYP19A1:

1TQA (3D)

3EQM (3D)

3S79 (3D)

3S7S (3D)

4GL5 (3D)

4GL7 (3D)

Secondary accessions: Q16731 Q3B764 Q58FA0

Explore the universe of human proteins at neXtProt for CYP19A1: NX_P11511

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P11511

4/27 DME Specific Peptides for CYP19A1 (P11511) (see all 27)

TSSIPGP

GIGPLIS

RYFQPFG

IAMVMMK

CYP19A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000094.2 NP_112503.1

ENSEMBL proteins:

ENSP00000379683 ENSP00000379685 ENSP00000453149 ENSP00000452667 ENSP00000454004

ENSP00000390614 ENSP00000454039 ENSP00000453280 ENSP00000391139 ENSP00000383930

ENSP00000452627 ENSP00000452872 ENSP00000384389 ENSP00000453318 ENSP00000260433

Reactome Protein details: P11511
Human Recombinant Protein Products:

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	Browse recombinant and purified proteins available from Enzo Life Sciences
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	Novus Biologicals CYP19A1 Proteins Novus Biologicals CYP19A1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CYP19A1

Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	--	--
GO:0005783	endoplasmic reticulum	IDA	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005829	cytosol	--	--

CYP19A1 for ontologies About GeneDecksing

CYP19A1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CYP19A1
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	Cell Signaling Technology (CST) Antibodies for CYP19A1
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	GenScript Custom Superior Antibodies Services for CYP19A1
	Novus Biologicals CYP19A1 Antibodies
	Abcam antibodies for CYP19A1
	Uscn Antibodies for CYP19A1
	ThermoFisher Antibodies for CYP19A1

Assay Products for CYP19A1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CYP19A1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CYP19A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CYP19A1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002401 Cyt_P450_E_grp-I

Graphical View of Domain Structure for InterPro Entry P11511

ProtoNet protein and cluster: P11511

UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511

Similarity: Belongs to the cytochrome P450 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511

Function: Catalyzes the formation of aromatic C18 estrogens from C19 androgens

Catalytic activity: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O

Enzyme Number (IUBMB): EC 1.14.14.1¹ ²

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYP19A1
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CYP19A1 (see all 20):
		hsa-let-7d hsa-miR-539 hsa-miR-219-5p hsa-let-7c hsa-miR-105 hsa-miR-3605-5p hsa-let-7g hsa-miR-515-5p

		SwitchGear 3'UTR luciferase reporter plasmid: CYP19A1 3' UTR sequence

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Gene Editing
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DNA2.0 Custom Protein Engineering Service for CYP19A1

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CYP19A1
		Search LifeMap BioReagents cell lines for CYP19A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP19A1

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005506	iron ion binding	IEA	--
GO:0009055	electron carrier activity	TAS	2848247
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	TAS	1371509
GO:0019825	oxygen binding	TAS	2848247

CYP19A1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for CYP19A1: Cyp19a1^tm1Toda Cyp19a1^tm1Esi Cyp19a1^tm1Sih
     15/18 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Cyp19a1) (see all 18):

adipose tissue	behavior/neurological	cardiovascular system	cellular	endocrine/exocrine gland
growth/size	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system
integument	liver/biliary system	muscle	nervous system	normal

CYP19A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cytochrome P450 - arranged by substrate type

	Cytochrome P450 - arranged by substrate type	1.00			cytochrome P450	0.73
	Phase 1 - Functionalization of compounds	0.74

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Estrogen biosynthesis

	Estrogen biosynthesis	1.00			Aromatase Inhibitor Pathway (Multiple Tissues), Pharmacodynamics	0.40
	Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics	0.50

Transcription_Role of VDR in regulation of genes involved in osteoporosis

Transcription_Role of VDR in regulation of genes involved in osteoporosis

1.00

Transcription Role of VDR in regulation of genes involved in osteoporosis

0.80

Biological oxidations

Biological oxidations

1.00

metapathway biotransformation

0.41

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for CYP19A1

	Transcription Role of VDR in regulation of genes involved in osteoporosis
	Estrogen biosynthesis

2 GeneGo (Thomson Reuters) Pathways for CYP19A1

	Estrogen biosynthesis
	Transcription Role of VDR in regulation of genes involved in osteoporosis

5/7 BioSystems Pathways for CYP19A1 (see all 7)

	Integrated Breast Cancer Pathway
	cytochrome P450
	FSH signaling pathway
	Ovarian Infertility Genes
	Tryptophan metabolism

5/9 Reactome Pathways for CYP19A1 (see all 9)

	Cytochrome P450 - arranged by substrate type
	Metabolism
	Steroid hormones
	Endogenous sterols
	Metabolism of steroid hormones and vitamin D

3 PharmGKB Pathways for CYP19A1

	Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics
	Aromatase Inhibitor Pathway (Multiple Tissues), Pharmacodynamics
	Estrogen Metabolism Pathway

2 Kegg Pathways (Kegg details for CYP19A1):

	Steroid hormone biosynthesis
	Metabolic pathways

CYP19A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CYP19A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/66 Interacting proteins for CYP19A1 (P11511^{2, 3} ENSP00000260433⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 66)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FANCG	O15287³, ENSP00000367910⁴	I2D: score=2 STRING: ENSP00000367910
ATP6V1B2	P21281², ENSP00000276390⁴	MINT-4054731 STRING: ENSP00000276390
A2M	P01023²	MINT-4054731
ACTB	P60709²	MINT-4054731
ALPP	P05187²	MINT-4054731

About this table

Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006694	steroid biosynthetic process	TAS	2848247
GO:0006703	estrogen biosynthetic process	TAS	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0008202	steroid metabolic process	TAS	--
GO:0008206	bile acid metabolic process	--	--

CYP19A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CYP19A1 for compounds About GeneDecksing

EMD Millipore small molecules for CYP19A1:
Small Molecule - inhibitor

Enzo Life Sciences drugs & compounds for CYP19A1

Compounds for CYP19A1 available from Tocris Bioscience About this table

Compound	Action	CAS #
YM 511	Potent aromatase (CYP19) inhibitor	[148869-05-0]
Letrozole	Potent, reversible non-steroidal aromatase inhibitor	[112809-51-5]
Anastrozole	Potent aromatase (CYP19) inhibitor	[120511-73-1]

10/51 HMDB Compounds for CYP19A1 (see all 51) About this table

Compound	Synonyms	CAS #	PubMed Ids
Androstenedione	(4)-Androsten-3,17-dione (see all 14)	63-05-8	15800924
10-HETE	10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate (see all 2)	167697-52-1	--
11,12,15-THETA	11,12,15-Trihydroxyicosatrienoic acid (see all 5)	--	--
11,12-Epoxyeicosatrienoic acid	10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid (see all 15)	81276-02-0	--
11,14,15-THETA	(5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid (see all 8)	--	--
11H-14,15-EETA	14,15-Ep-11-HETrE (see all 11)	219535-29-2	--
11beta-Hydroxytestosterone	11beta,17beta-dihydroxyandrost-4-en-3-one	1816-85-9	--
12,13-EpOME	Vernolic acid (see all 12)	--	--
13-HETE	13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate (see all 2)	151910-72-4	--
14,15-Epoxy-5,8,11-eicosatrienoic acid	(5Z,8Z,11Z)-14,15-Epoxyicosa-5.8.11-trienoic acid (see all 11)	81276-03-1	--

10/42 DrugBank Compounds for CYP19A1 (see all 42) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Anastrozole	--	120511-73-1	target	inhibitor	19389994 18073378 16439860 17693420 16034487 19753124 19794821 11752352 19470631
Anastrozole	--	120511-73-1	enzyme	inhibitor	19389994 18073378 16439860 17693420 16034487 19753124 19794821 11752352 19470631 19934256
Exemestane	Exemestano [INN-Spanish] (see all 2)	107868-30-4	target	inhibitor	20360896 19930708 19337436 15814851 19436613 11752352 18728707 19156139 17020418
Exemestane	Exemestano [INN-Spanish] (see all 2)	107868-30-4	enzyme	inhibitor	20360896 19930708 19337436 15814851 19436613 11752352 18728707 19156139 17020418 19934256
Aminoglutethimide	Dl-Aminoglutethimide (see all 2)	125-84-8	target	inhibitor	17139284 11752352 16244789 17016423 17602675 16332571 16474421
Letrozole	--	112809-51-5	target	antagonist	15026471 10388095 11752352 14505258
Letrozole	--	112809-51-5	enzyme	substrate inhibitor	15026471 10388095 11752352 14505258 11752352 19934256
Testolactone	Testolactona [INN-Spanish] (see all 3)	968-93-4	target	inhibitor	11792932 16766117 16190763 11752352 9521275
Edetic Acid	CaEDTA (see all 8)	62-33-9	enzyme	substrate	18499441 12392814 9418012 2546553
Chlorphenesin	alpha-Glyceryl ether (see all 7)	104-29-0	enzyme	inducer	16077170 15070871
Betamethasone	--	378-44-9	enzyme	substrate inducer	19934256
Bifonazole	(+-)-1-(p,alpha-Diphenylbenzyl)imidazole (see all 9)	60628-96-8	enzyme	inhibitor	19934256
Buserelin	--	57982-77-1	enzyme	inducer	19934256

10/135 Novoseek chemical compound relationships for CYP19A1 gene (see all 135) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
anastrozole	98	518	11900212 (4), 16263272 (4), 9522927 (4), 11850214 (3) (see all 99)
letrozole	97.9	509	16263272 (4), 9878997 (4), 9556790 (4), 11854020 (4) (see all 99)
exemestane	97.5	354	14501171 (4), 17079446 (4), 9797017 (3), 11850214 (3) (see all 99)
tamoxifen	95.4	1243	18448280 (9), 18445827 (6), 19593135 (6), 15598941 (6) (see all 99)
formestane	95	171	9797017 (3), 7781147 (3), 2185341 (2), 1637664 (2) (see all 99)
estrogen	94.1	2244	19800101 (7), 11850220 (6), 10851574 (5), 17962916 (5) (see all 99)
aminoglutethimide	93.5	204	10470147 (5), 16244789 (5), 2353556 (4), 9831487 (3) (see all 99)
androstenedione	91.4	275	8476772 (6), 1827700 (4), 8425476 (3), 11916223 (2) (see all 99)
vorozole	91	80	9797019 (7), 8730654 (4), 16714371 (3), 10845274 (3) (see all 38)
estrone	90.7	171	15456920 (5), 8476770 (3), 10731634 (2), 15483104 (2) (see all 99)

1 PharmGKB related drug/compound annotation for CYP19A1 gene

Drug/compound	PharmGKB Annotation
letrozole	CA

About this table

Search CenterWatch for drugs/clinical trials and news about CYP19A1 / CP19A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CYP19A1 gene (2 alternative transcripts):

NM_000103.3 NM_031226.2

Unigene Cluster for CYP19A1:

Cytochrome P450, family 19, subfamily A, polypeptide 1

Hs.260074 [show with all ESTs]

Unigene Representative Sequence: NM_031226

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000396402(uc001zza.4) ENST00000396404 ENST00000559878 ENST00000490076

ENST00000559653 ENST00000557934 ENST00000439712(uc001zzb.2 uc010bey.1)

ENST00000558066 ENST00000561075 ENST00000558328 ENST00000478421(uc001zzc.1)

ENST00000453807 ENST00000405913(uc001zzd.3) ENST00000557858 ENST00000559980

ENST00000405011 ENST00000559646(uc001zze.2) ENST00000561066

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		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CYP19A1 (see all 20):
		hsa-let-7d hsa-miR-539 hsa-miR-219-5p hsa-let-7c hsa-miR-105 hsa-miR-3605-5p hsa-let-7g hsa-miR-515-5p

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Additional cDNA sequence:

AK291778.1 BC020767.1 BC022896.1 BC035714.1 BC035959.1 BC056258.1 BC107785.1 DQ118405.1

J04127.1 M18856.1 M22246.1 M28420.1 S52789.1 S52793.1 S52794.1 S58866.1

S85075.1 S96437.1 X13589.1 XR_132592.1 XR_159249.1 XR_172082.1 Y07508.1

24/64 DOTS entries (see all 64):

DT.449261 DT.100676727 DT.95300279 DT.101970966 DT.100869537 DT.91861766 DT.100854649 DT.121057178

DT.100676716 DT.121057258 DT.121057260 DT.91787024 DT.303062 DT.100676725 DT.100676720 DT.121057024

DT.121056960 DT.121057151 DT.40215192 DT.70102672 DT.121057217 DT.70101056 DT.91783279 DT.95249508

24/577 AceView cDNA sequences (see all 577):

D79084 BU751889 AW195625 BG572096 BG436013 BX360406 BG621317 BU751976

AI076176 H03577 CR591944 NM_031226 BQ023342 AI819056 BX396765 R65570

H93307 BC035714 BG434800 H04936 N32432 BG572583 CR617535 BG572746

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for CYP19A1 (see all 12) About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9a	·	9b	^	10a	·	10b	^	11	^	12a	·	12b	·	12c	^	13a	·	13b	^	14	^	15a	·	15b	^	16a	·	16b	^
SP1:																			-																		-										-
SP2:																																					-										-
SP3:											-		-		-		-		-
SP4:																																					-
SP5:			-		-		-		-		-		-		-		-		-

ExUns:	17
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CYP19A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYP19A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CYP19A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Antral Follicle

Mature Granulosa Cells

Ovary

Primary Follicle

Granulosa Cells

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

human Fetal Gonadal Stromal Cell (Primary Cell)

Reproductive System

Syncytiotrophoblast-like cells (Generation of syncyt...)

Mature follicles (In-vitro growth and ...)

See CYP19A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP19A1

SOURCE GeneReport for Unigene cluster: Hs.260074

UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511

Tissue specificity: Brain, placenta and gonads

SABiosciences Expression via Pathway-Focused PCR Arrays including CYP19A1:

G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat

Estrogen Receptor Signaling in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

Drug Metabolism in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP19A1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CYP19A1 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cyp19a1^{1 , 5}	cytochrome P450, family 19, subfamily a, polypeptide more^{1, 5}	81.41(n)¹ 79.48(a)¹		9 (29.49 cM)⁵ 13075¹ NM_007810.3¹ NP_031836.1¹ 54165937⁵
chicken (Gallus gallus)	Aves	CYP19A1¹	cytochrome P450, family 19, subfamily A, polypeptide more	71.75(n) 72.09(a)		414854 NM_001001761.1 NP_001001761.1
lizard (Anolis carolinensis)	Reptilia	CYP19A1⁶	--	71(a)	1 ↔ 1	GL343330.1(545334-559023)
African clawed frog (Xenopus laevis)	Amphibia	p450arom-A²	aromatase	72.95(n)		AB031278.1
zebrafish (Danio rerio)	Actinopterygii	AF183908.1²	--	71.69(n)		60640 AF183908.1

ENSEMBL Gene Tree for CYP19A1 (if available)
TreeFam Gene Tree for CYP19A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80051519^1,2	C	pathogenic	74047273(+)	`GGTACC/TGCATG`	4	Q R	mis¹		0	--	--	--	--
rs78310315^1,2	C	pathogenic	74048752(+)	`CTGCAC/TAGCCA`	4	Y C	mis¹		0	--	--	--	--
rs28757214^1,2	C,	--	28330167(-)	`ATTGGC/TCTATT`	2	--	ds500¹		5		NS	188
rs2289104^1,2	C,F,H,	--	28330342(+)	`ATGTCT/CTTCTG`	2	--	ut3¹		11		EA NS NA	2444
rs28757213^1,2	C,F,	--	28330433(-)	`AAGCAT/CGTGCC`	2	--	ut3¹		6		NS CSA	188
rs934633^1,2	C,F,O,A,H,	--	28330554(+)	`TTCCAC/TTTGAG`	2	--	ut3¹		24		MN NS EA NA WA	2712
rs28757212^1,2	C,F,	--	28331768(-)	`TGTCAT/CTGAAA`	2	--	ut3¹		8		NS NA	314
rs28757211^1,2	C,F,H	--	28331825(-)	`ACTTTC/TCAAAC`	2	--	ut3¹		7		NS NA	418
rs28757210^1,2	C,F,H,	--	28331874(-)	`TTGCAC/TACCTT`	2	--	ut3¹ ese³		12		NS NA WA	1102
rs28757209^1,2	C,	--	28332521(-)	`TGACCC/GTTGCT`	2	--	ut3¹ ese³		5		NS	184

HapMap Linkage Disequilibrium report for CYP19A1 (51500254 - 51630807 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for CYP19A1
5 CNVs: 102102 72248 3081 8798 3963
1 Indel: 33603
Human Gene Mutation Database (HGMD): CYP19A1

Locus Specific Mutation Databases (LSDB): CYP19A1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP19A1

DNA2.0 Custom Variant and Variant Library Synthesis for CYP19A1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CYP19A1 for disorders           About GeneDecksing

OMIM gene information: 107910
OMIM disorders: 613546  139300
UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511

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

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

20/176 diseases for CYP19A1 (see all 176): About MalaCards

androgen insensitivity syndrome antley-bixler syndrome androgen insensitivity syndrome, partial hypoactive sexual desire disorder

peutz-jeghers syndrome progesterone-receptor positive breast cancer precocious puberty, male complete androgen insensitivity syndrome

mixed epithelial stromal tumour estrogen-receptor negative breast cancer estrogen-receptor positive breast cancer precocious puberty

gender identity disorder primary pigmented nodular adrenocortical disease leydig cell tumor sertoli-leydig cell tumor

serous cystadenocarcinoma aromatase excess syndrome osteopenia/osteoporosis osteoporosis, postmenopausal

4 diseases from the University of Copenhagen DISEASES database for CYP19A1:

Breast cancer Endometriosis Ovarian disease Gynecomastia

10/94 Novoseek disease relationships for CYP19A1 gene (see all 94) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer	92.3	2440	10731105 (7), 17020418 (6), 20352486 (6), 15814851 (6) (see all 99)
breast cancer metastatic	84.1	114	9786093 (3), 11129731 (3), 16940812 (3), 9350235 (2) (see all 89)
endometrial cancer	74.8	118	8476761 (5), 17404019 (5), 15846217 (4), 15788666 (4) (see all 57)
endometriosis	74.1	257	8550748 (5), 20430665 (5), 18048499 (5), 10593363 (4) (see all 99)
gynecomastia	71.9	46	16392624 (4), 18426832 (4), 8768875 (3), 10731125 (3) (see all 29)
breast carcinoma	67.5	150	18622573 (6), 18480557 (5), 8603035 (3), 8923858 (3) (see all 83)
virilization	67.1	21	10599737 (2), 18804292 (2), 9300203 (1), 8200927 (1) (see all 18)
bone loss	66	82	18515009 (5), 19709826 (4), 16844441 (3), 18068489 (3) (see all 59)
cancer recurrence	65.6	5	19593135 (1), 17145349 (1), 17393300 (1), 16198568 (1) (see all 5)
endocrine cancer	64.5	2	20374026 (1), 15822681 (1)

Genetic Association Database (GAD): CYP19A1
Human Genome Epidemiology (HuGE) Navigator: CYP19A1 (262 documents)

Export disorders for CYP19A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CYP19A1 gene, integrated from 9 sources (see all 2824):
(articles sorted by number of sources associating them with CYP19A1)

Utopia: connect your pdf to the dynamic
world of online information

CYP19 (aromatase) haplotypes and endometrial cancer risk. (PubMed id 15800924)^{1, 4, 6, 9} Paynter R.A....De Vivo I. (2005)
CYP1B1 and CYP19 gene polymorphisms and breast cancer incidence: no association in the ARIC study. (PubMed id 15072827)^{1, 4, 9} Thyagarajan B....Gross M. (2004)
Are the T/C polymorphism of the CYP17 gene and the tetranucleotide repeat (TTTA) polymorphism of the CYP19 gene genetic markers for premature coronary artery disease in Caucasians? (PubMed id 16045239)^{1, 4, 9} Letonja M....Petrovic D. (2005)
Association of the genetic polymorphism of the CYP19 intron 4[TTTA]n repeat with familial prostate cancer risk in a Japanese population. (PubMed id 14981949)^{1, 4, 9} Suzuki K....Yamanaka H. (2003)
Genetic polymorphisms of estrogen receptor alpha, CYP19, catechol-O-methyltransferase are associated with familial prostate carcinoma risk in a Japanese population. (PubMed id 14508827)^{1, 4, 9} Suzuki K....Yamanaka H. (2003)
[Association of polymorphism of genetic markers of CYP19 and CYP17 with sporadic breast cancer] (PubMed id 14714492)^{1, 4, 9} Artamonov V.V....Zaletaev D.V. (2003)
Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women. (PubMed id 11925378)^{1, 4, 9} Kado N....Honjo H. (2002)
CYP19 gene polymorphism in endometrial cancer patients. (PubMed id 11216915)^{1, 4, 9} Berstein L.M....Gamajunova V.B. (2001)
Allelic variants of aromatase and the androgen and estrogen receptors: toward a multigenic model of prostate cancer risk. (PubMed id 11595700)^{1, 4, 9} Modugno F....Ferrell R.E. (2001)
Phytoestrogen exposure correlation with plasma estradiol in postmenopausal women in European Prospective Investigation of Cancer and Nutrition-Norfolk may involve diet-gene interactions. (PubMed id 15668497)^{1, 4, 9} Low Y.L....Bingham S.A. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1588	HGNC: 2594	AceView: CYP19A1	Ensembl:ENSG00000137869	euGenes: HUgn1588
ECgene: CYP19A1	Kegg: 1588	H-InvDB: CYP19A1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CYP19A1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CYP19A1	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Aromatase
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP19A1
NIEHS-SNPs	http://egp.gs.washington.edu/data/cyp19a1/

Intellectual Property for CYP19A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CYP19A1 gene:
Search GeneIP for patents involving CYP19A1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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Advanced Cell Diagnostics
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CYP19A1 Gene

cytochrome P450, family 19, subfamily A, polypeptide 1

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for CYP19A1 gene

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for CYP19A1 gene

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Primary Amenorrhea
stable disease
Breast Neoplasms
Thecoma
Infertility
UTERINE HYPERTROPHY
Infertility Female
Endometriosis
Ovarian Cysts
Puberty Delayed
Bone Diseases
Dyspareunia
Breast Cancer
Feminization
primary tumor
Androgen Insensitivity Syndrome Partial
recurrent endometrial cancer
Cancer
Klinefelters Syndrome
Pseudohermaphroditism
bone loss
Hyperestrogenism
ANDROGEN DEFICIENCY
Endocrine Cancer
HYPERGONADOTROPIC HYPOGONADISM
mammary tumor
Ovarian Cancer
PRECOCIOUS PUBERTY, MALE-LIMITED
Leiomyoma
Osteoporosis Postmenopausal
SHORT STATURE
Uterine leiomyoma
Gynecomastia
Adrenal Hyperplasia Congenital
cancer recurrence
ENDOMETRIAL CARCINOMA
Osteopenia
prostate cancer
Tumors
UTERINE ABNORMALITY
Metastasis
Carcinoma Ductal
Atresia
breast cancer metastatic
ENDOCRINE DISORDER
Anovulation
Hyperandrogenism
Infantilism Sexual
progressive disease
Adenoma Adrenocortical
BREAST CARCINOMA
Sarcoma Endometrial Stromal
intraductal breast carcinoma
ANTLEY-BIXLER SYNDROME
Peutz-Jeghers Syndrome
uterine sarcoma
Growth Disorders
Carcinoma
PERIPHERAL EDEMA
Androgen Insensitivity Syndrome Complete
stage breast cancer
VIRILIZATION
epithelial tumor
Uterine Cancer
Osteoporosis
Endocrine Effects
Ovarian Hyperstimulation Syndrome
Breast Cysts
Leydig Cell Tumor
Carcinoma Adrenocortical
Alopecia Androgenetic
Granulosa Cell Tumor
benign prostatic hyperplasia
Sertoli Cell Tumor
Polycystic Ovary Syndrome
Puberty Precocious
Myoma
Infertility Male
Treatment-Related Cancer
ADRENAL TUMOR
androgen suppression
Ovarian Diseases
ADRENAL ADENOMA
Prostatic Diseases
Cryptorchidism
Endometrial Hyperplasia
Polycystic ovaries
Breast Diseases
bone metastases
Endometrial Cancer
ENDOMETRIOSIS PELVIC
Choriocarcinoma
Hypogonadism
recurrent breast cancer

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CYP19A1 Gene

cytochrome P450, family 19, subfamily A, polypeptide 1

Aliasesfor CYP19A1 gene

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Aliases
for CYP19A1 gene

Summaries
for CYP19A1 gene

Genomic Views
for CYP19A1 gene

Proteins
for CYP19A1 gene

Protein Domains /
Families
for CYP19A1 gene

Function
for CYP19A1 gene

Pathways & Interactions
for CYP19A1 gene

Drugs & Compounds
for CYP19A1 gene

Transcripts
for CYP19A1 gene

Expression
for CYP19A1 gene

Orthologs
for CYP19A1 gene

Paralogs
for CYP19A1 gene

Genomic Variants
for CYP19A1 gene

Disorders / Diseases
for CYP19A1 gene

Publications
for CYP19A1 gene

Intellectual Property
for CYP19A1 gene

Products
for CYP19A1 gene