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CYP17A1

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Cytochrome P450, family 17, subfamily A, polypeptide 1

Identifiers

Symbols

CYP17A1; CPT7; CYP17; P450C17; S17AH

External IDs

OMIM: 609300 MGI: 88586 HomoloGene: 73875

Gene ontology
Molecular function:	• monooxygenase activity • steroid 17-alpha-monooxygenase activity • iron ion binding • oxygen binding • heme binding • metal ion binding
Cellular component:	• mitochondrion • endoplasmic reticulum • microsome • membrane
Biological process:	• electron transport • C21-steroid hormone biosynthetic process • sex differentiation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000102 (mRNA)
NP_000093 (protein)

NM_007809 (mRNA)
NP_031835 (protein)

Location

Chr 10: 104.58 - 104.59 Mb

Chr 19: 46.72 - 46.73 Mb

Pubmed search

[1]

[2]

CYP17A1 (also known as 17α-hydroxylase/17,20 lyase/17,20 desmolase^[1]) is a cytochrome P450 enzyme which acts upon pregnenolone and progesterone to add a hydroxyl (-OH) group at carbon 17 of the steroid D ring (the hydroxylase activity), or acts upon 17-hydroxyprogesterone and 17-hydroxypregnenolone to split the side chain off the steroid nucleus (the lyase activity).

17α-hydroxylase converts pregnenolone and progesterone to their 17-hydroxy forms, and converts 17-hydroxypregnenolone and 17-hydroxyprogesterone to DHEA and androstenedione, respectively. It corresponds to the downward arrows in this reaction scheme.

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.^[2]

1 Additional images
2 See also
3 External links
4 References
5 Further reading

[edit] Additional images

Steroidogenesis, showing, at left side, both reactions of 17-alpha hydroxylase, and both actions of 17, 20 lyase.

Pregnenolone	17-Hydroxypregnenolone	Progesterone	17-Hydroxyprogesterone
Steroid numbering

[edit] See also

Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency

[edit] External links

MeSH CYP17A1+protein,+human

[edit] References

^ Medical Physiology, Boron & Boulpaep, ISBN 1-4160-2328-3, Elsevier Saunders 2005. Updated edition. Page 1180.
^ "Entrez Gene: CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1586.

[edit] Further reading

Miura K, Yasuda K, Yanase T, et al. (1996). "Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17.". J. Clin. Endocrinol. Metab. 81 (10): 3797–801. PMID 8855840.
Miller WL, Geller DH, Auchus RJ (1999). "The molecular basis of isolated 17,20 lyase deficiency.". Endocr. Res. 24 (3-4): 817–25. PMID 9888582.
Strauss JF (2004). "Some new thoughts on the pathophysiology and genetics of polycystic ovary syndrome.". Ann. N. Y. Acad. Sci. 997: 42–8. PMID 14644808.

v • d • e Oxidoreductases: dioxygenases, including steroid hydroxylases (EC 1.14)

1.14.11 - 2-oxoglutarate	Prolyl hydroxylase - Lysyl hydroxylase

1.14.13 - NADH or NADPH	Flavin-containing monooxygenase - Nitric oxide synthase (NOS1, NOS2A, NOS3) - Cholesterol 7 alpha-hydroxylase - Methane monooxygenase - 3A4 -51A1

1.14.14 - reduced flavin or flavoprotein	19A1 - 2D6 - 2E1

1.14.15 - reduced iron-sulfur protein	11B1 - 11B2 - 11A1

1.14.16 - reduced pteridine	Phenylalanine hydroxylase - Tyrosine hydroxylase - Tryptophan hydroxylase

1.14.17 - reduced ascorbate	Dopamine beta hydroxylase

1.14.18-19 - other	Tyrosinase - Stearoyl-CoA desaturase-1

1.14.99 - miscellaneous	Cyclooxygenase - Heme oxygenase (HMOX1) - Squalene monooxygenase - 17A1 - 21A2

v • d • e Steroid metabolism enymes - steroidogenesis

To pregnenolone	Side-chain cleavage

To aldosterone/cortisol	21-hydroxylase - 18-hydroxylase - 11-beta-hydroxylase

To sex hormones	17-alpha-hydroxylase - Aromatase

Other steroid hydroxylases	CYP27A1 Hydroxysteroid dehydrogenase: 11 Beta (HSD11B1, HSD11B2) - 3 Beta (3-beta-HSD) - 17 Beta

see also steroids/intermediates

v • d • e Cytochromes, oxygenases: cytochrome P450 (EC 1.14)

CYP1	A1 · A2 · B1

CYP2	A6 · A7 · A13 · B6 · C8 · C9 · C18 · C19 · D6 · E1 · F1 · J2 · R1 · S1 · U1 · W1

CYP3 (CYP3A)	A4 · A5 · A7 · A43

CYP4	A11 · A22 · B1 · F2 · F3 · F8 · F11 · F12 · F22 · V2 · X1 · Z1

CYP5-20	CYP5 (A1) · CYP7 (A1, B1) · CYP8 (A1, B1) · CYP11 (A1, B1, B2) · CYP17 (A1) · CYP19 (A1) · CYP20 (A1)

CYP21-51	CYP21 (A2) · CYP24 (A1) · CYP26 (A1, B1, C1) · CYP27 (A1, B1, C1) · CYP39 (A1) · CYP46 (A1) · CYP51 (A1)

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