Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

CYP17A1

contributors: mct/ - updated : 06-04-2007

HGNC name	cytochrome P450, family 17, subfamily A, polypeptide 1
HGNC id	2593

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CYP17A1D adrenal hyperplasia V, congenital, due to 17-alpha hydroxylase deficiency
Location	10q24.3      Physical location : 104.590.289 - 104.597.290
Synonym name	cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia
	steroid 17-alpha-monooxygenase
	cytochrome P450 17A1
Synonym symbol(s)	CPT7, CYP17, S17AH, P450C17, CYPXVII
EC.number	1.14.99.9

DNA

TYPE	functioning gene
STRUCTURE	7.00 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000102 8 - 1895 NP_000093 57.2 508 - -

EXPRESSION

Type	restricted

constitutive of

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 Endocrine adrenal gland           thyroid         Reproductive male system testis         ovary         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

HemoP

mono polymer

monomer

HOMOLOGY

Homologene

FAMILY	cytochrome P450 subfamily XVII
	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 ,rough,smooth
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION	participating in both glucocorticoid and estrogen biosynthesis
	conversion of pregnenolone and progesterone to their 17- alpha-hydroxylated products and subsequently to dehydroepiandrosterone and androstenedione
	catalyzing both the 17-alpha-hydroxylation and the 17,20-lyase reaction
	involved in sexual development during fetal life and at puberty

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport , detoxification

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	NADPH, heme

protein	flavoprotein P450 oxidoreductase (POR)
	ESRRG directly regulated the CYP17A1 promoter

cell & other

REGULATION

activated by	the cytochrome b5 and P450 oxidoreductase,
		phosphorylation of Ser/Trh by a cAMP dependent kinase required for 17,20 lyase activity

Other

regulated predominantly by intracellular cAmp levels

ASSOCIATED DISORDERS

corresponding disease(s)

CYP17A1D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral germinal mutation       protein truncating mutation in familial early-onset breast cancer

Susceptibility

putative susceptibility gene for breast carcinogenesis in young women susceptibility to endometrial cancer and prostate cancer susceptibility to osteoporosis

Variant & Polymorphism SNP , other	prostate cancer in older man A2(CC)
	protecting against endometrial cancer risk
	increasing the risk of non-Hodgkin lymphoma
	significant increased risk in carriers of homozygous A2 allele was found in breast carcinogenesis in young women

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS