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FLASH GENE

Symbol

CYP19A1

contributors: mct/npt - updated : 22-05-2010

HGNC name	cytochrome P450, family 19, subfamily A, polypeptide 1
HGNC id	2594

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	multiple tissue-specific promoters, which result in the production of various mRNA transcripts that contain an alternative noncoding exon 1 followed by a common protein-coding region (Wang 2009)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000103 9 splicing 4422 NP_000094 - 503 ovarian specific Simpson, Harada (1992) lack exon 2a NM_031226 11 - 4531 NP_112503 57.8 503 ovarian specific Simpson, Harada (1992)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain limbic system hippocampus   highly Reproductive female system ovary         female system placenta         male system testis       Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Nervous pyramidal cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

juxtaposition of the hydrophobic N-terminal region and the opening to the catalytic cleft shows why membrane anchoring is necessary for the lipophilic substrates to gain access to the active site (Ghosh 2009)

conjugated

HemoP

mono polymer

monomer

HOMOLOGY

interspecies

homolog to murine Cyp19

Homologene

FAMILY	cytochrome P450 subfamily XIX
	multigenic cytochrome P450 superfamily of mixed-function monooxygenases

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION	catalyzes the conversion of androgens to estrogens through a sequential three-step reaction, generating 19-hydroxy and 19-aldehyde intermediates en route to the product estrogen (Sohl 2010)
	catalyzing the last steps of estrogen biosynthesis, three successive hydroxylations of the A ring of androgens
	plays a crucial role in the endocrine and paracrine biosynthesis of estrogens from androgens in many diverse estrogen-responsive tissues

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

hormone

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	NADPH, heme

protein

flavoprotein P450 oxidoreductase (POR)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AROD , AROE

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   four promoters (II, I.3, I.7 and I.4) markedly increasing total expression in breast cancer

Susceptibility

endometrial cancer development (A6 and A7 allele over represented) to bone mineral density variability in men to breast cancer

Variant & Polymorphism SNP , insertion/deletion	associations for five SNPs with age at menarche in Caucasian females
	common haplotype of aromatase associated with gene expression is also associated with the risk of osteoporotic vertebral fractures in postmenopausal women
	polymorphism associated with femoral neck bone mineral density in men
	3-bp I/D polymorphisms of the CYP19A1 gene may be associated with breast cancer in Korean women (Kim 2009)

Candidate gene
Marker
Therapy target	important target in endocrine therapy for estrogen receptor (ER)-positive postmenopausal breast cancer (Wang 2009)

ANIMAL & CELL MODELS