CYP17A1: Polycystic Ovarian Syndrome Database

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CYP17A1

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

CYP17A1

Aliases

CPT7, CYP17, P450C17, S17AH

Entrez Gene ID

1586

Gene Name

Cytochrome P450 family 17 subfamily A member 1

Chromosomal Location

10q24.32

HGNC ID

HGNC:2593

Summary

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. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_007955.1

RefSeq mRNA

NM_000102.4

e!Ensembl

Gene	ENSG00000148795
Transcript	ENST00000638971, ENST00000638190, ENST00000369887, ENST00000638272, ENST00000639393
Protein	ENSP00000492313, ENSP00000492539, ENSP00000358903, ENSP00000491508, ENSP00000492651

Gene Ontology (GO)

Show/Hide all(15 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006694	Biological process	Steroid biosynthetic process	TAS	3500022
GO:0007548	Biological process	Sex differentiation	TAS	9326943
GO:0008202	Biological process	Steroid metabolic process	IDA	22266943
GO:0042446	Biological process	Hormone biosynthetic process	IBA	21873635
GO:0042446	Biological process	Hormone biosynthetic process	IDA	22266943
GO:0042448	Biological process	Progesterone metabolic process	IBA	21873635
GO:0042448	Biological process	Progesterone metabolic process	IDA	22266943
GO:0005783	Cellular component	Endoplasmic reticulum	NAS	9326943
GO:0004508	Molecular function	Steroid 17-alpha-monooxygenase activity	IBA	21873635
GO:0004508	Molecular function	Steroid 17-alpha-monooxygenase activity	IDA	22266943
GO:0004508	Molecular function	Steroid 17-alpha-monooxygenase activity	IMP	22170710, 24140098
GO:0019825	Molecular function	Oxygen binding	TAS	2808364
GO:0020037	Molecular function	Heme binding	IDA	22266943
GO:0047442	Molecular function	17-alpha-hydroxyprogesterone aldolase activity	IBA	21873635
GO:0047442	Molecular function	17-alpha-hydroxyprogesterone aldolase activity	IMP	24140098

Protein Information

Protein Name

Steroid 17-alpha-hydroxylase/17,20 lyase, 17-alpha-hydroxyprogesterone aldolase, CYPXVII, cytochrome P450 17A1, cytochrome P450, family 17, subfamily A, polypeptide 1, cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia, cytochrome P450-C17, cytochrome P450c17, cytochrome p450 XVIIA1, steroid 17-alpha-monooxygenase

Function

A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis. Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol(Probable). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids, dehydroepiandrosterone (DHEA) and androstenedione . Has 16-alpha hydroxylase activity. Catalyzes 16-alpha hydroxylation of 17-alpha hydroxy pregnenolone, followed by the cleavage of the C17-C20 bond to form 16-alpha-hydroxy DHEA. Also 16-alpha hydroxylates androgens, relevant for estriol synthesis. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase)

Refseq Proteins

NP_000093.1

UniProt

P05093

PDB

2C17, 3RUK, 3SWZ, 4NKV, 4NKW, 4NKX, 4NKY, 4NKZ, 5IRQ, 5IRV, 5UYS, 6CHI, 6CIR, 6CIZ

Pfam

Pfam Accession	Pfam ID
PF00067	p450

Pathways
	KEGG	Reactome
	Steroid hormone biosynthesis Metabolic pathways Ovarian steroidogenesis Prolactin signaling pathway Cortisol synthesis and secretion Cushing syndrome	Androgen biosynthesis Glucocorticoid biosynthesis Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)

Interactions

STRING	MINT	IntAct
ENSP00000222381		P27169

View interactions

Associated Diseases

Show/Hide all(7 )

Disease group	Disease Name	References
Cardiovascular Diseases
	Coronary heart disease	21347282, 21966275
	Malignant Hypertension	3142437
	Myocardial Infarction	26343387
Digestive System Diseases
Digestive System Diseases	Non-alcoholic Fatty Liver Disease	15706422
Endocrine System Diseases
	17,20-Lyase Deficiency	11549685, 1515452, 25650406, 19793597, 1740503, 11836339, 2808364, 12466376, 8345056, 8550762, 8027220, 24498484, 24140098, 14671162, 10720067, 8245018, 1714904, 8396144, 9326943
	Congenital adrenal hyperplasia	19793597, 14671162, 8345056, 12466376, 8245018, 8027220, 10720067, 11836339, 24498484, 1515452, 25650406, 11549685, 8550762, 8396144, 1714904, 1740503, 24140098, 2808364, 15844475, 9326943, 25741868, 18645707, 2843762
	Hypogonadism	18645707
	Hypopituitarism	12970278
	X-linked Adrenal Hypoplasia	24593890
	PCOS	19013303
Neoplasms
	Prostate cancer	17592021, 15538743, 16424004, 16859836, 16998812
	Breast Cancer	19913079
	Corpus Luteum Cyst	18645707
	Liver Cancer	15341023
	Ovarian Cysts	18645707
	Colorectal Cancer	26965516
Nervous System Diseases
	Parkinson Disease	19915575
	Neuralgia	17720801
Psychiatric/Brain disorders
	Sexual Arousal Disorder	15890676
	Psychosexual Disorders	15890676
Reproductive disorders
	Subfertility, Female	18645707
	Male infertility	15890676

References

Show/Hide all(15)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
18499961	CYP11alpha		216- allele		Related	123 (65 PCOS, 58 controls)	The results suggest that both alleles play a minor role in the development of PCOS and could be a genetic risk marker of the hyperandrogenic phenotype
18725155	CYP11A1,androstenedione,17alpha-hydroxyprogesterone, and DHEAS		Polymorphism in CYP17 promoter	Rotterdam criteria	Related	India-100 PCOS and 100 controls	The study carried out in a defined group of Indian women with PCOS suggests for the first time an individual, as well as combined, association of polymorphisms in CYP11A1 and CYP17 promoters with T levels.
18636181			Variant in gene		Related	134 Korean women with PCOS and 100 healthy women as controls	The frequency of seven SNPs had no significant association with PCOS. However, one haplotype (ht3) had a p-value of p=0.001, suggesting that it may be associated with the pathogenesis of PCOS in a Korean population.
15482786				NICHD criteria	Related	259 consecutive unselected white patients with PCOS and 161 control	It does not appear that this common variant of CYP17, a T to C substitution in the 5' promoter region, plays a significant role in the adrenal androgen excess of PCOS.
15284005	CYP11A1				Related		Activity of CYP17 and CYP11A, was increased in the PCOS compared to normal theca cells
14684846					Related		These studies demonstrate that 1) augmented CYP17 promoter function in PCOS theca cells results from increased basal regulation, and 2) diminished NF-1C-dependent repression may be one mechanism underlying increased basal CYP17 promoter activity and altered gene expression in PCOS theca cells.
11379008					Related	55 women with PCOS and 56 healthy women	The study concluded that T-->C polymorphism of CYP17 gene is not associated with steroid hormone synthesis in PCOS and is not the primary genetic defect in this disease.
10065777				NICHD criteria	Related	50 patients with PCOS and 50 healthy women	The difference in the frequency of the homozygous A2A2 genotype between the 50 PCOS-affected women (8%) and the 50 controls (0%) was statistically significant (P< .05).
9211124					Related	9 patients with polycystic ovary syndrome and 7 patients with PCOS, but normal 17-OHP	The results indicate that, when germline mutations in question, CYP17 may be excluded as a candidate gene for these subtypes of PCOS.
7849715					Related	14 Caucasian families with 81 affected individuals	Variation in the A2 allele of the CYP17 gene is a significant factor modifying the expression of PCO/MPB in families where it has been demonstrated to segregate as a single gene disorder, but it is excluded as the primary genetic defect.
8062947					Related	39 nonselected women with hyperandrogenism.	The results show a continuum of abnormalities in hyperandrogenic women, suggesting an enhanced cytochrome P450c17 alpha activity in the adrenal and the ovary as the shared mechanism between functional adrenal hyperandrogenism and functional ovarian hyperandrogenism.
22238371	HSD11B1			NIH criteria	Related	28 Caucasian PCOS women and 187 Caucasian controls	The results indicate that variants in the two genes are not associated with PCOS, or with the quantitative traits characteristic of PCOS, suggesting that these genes are not major risk factors for the syndrome.
24014605	LHCGR				Direct	Ovarian tissue from women with normal ovaries (n = 10) with those with PCOs (n = 16)	A higher proportion of theca cells from anovulatory PCO expressed LHCGR protein when compared with control ovaries (P = 0.01). A significant increase in the intensity of immunostaining for CYP17A1 was identified in antral follicles in sections of PCO compared with ovaries from normal women (P = 0.04).
24014605	LHCGR				Related	16 PCO, 10 controls	LHCGR and 17 -hydroxylase/17-20-lyase (CYP17A1) protein levels are increased in polycystic ovaries (PCOs)
9150702	17-OHP, GnRH	Hyperinsulinism			Related	28 women with PCOS and 18 normal women	Lack of a relationship between the 17-OHP response to the GnRH

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