Steroid 11-beta-hydroxylase

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Cytochrome P450, family 11, subfamily B, polypeptide 1

Identifiers

Symbol(s)

CYP11B1; CPN1; CYP11B; DKFZp686B05283; FHI; FLJ36771; P450C11

External IDs

OMIM: 610613 MGI: 88584 HomoloGene: 88331

EC number

1.14.15.4

Gene ontology
Molecular Function:	• monooxygenase activity • steroid 11-beta-monooxygenase activity • iron ion binding • heme binding • metal ion binding
Cellular Component:	• mitochondrion • microsome • membrane
Biological Process:	• electron transport • lipid metabolic process • C21-steroid hormone biosynthetic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000497 (mRNA)
NP_000488 (protein)

NM_009991 (mRNA)
NP_034121 (protein)

Location

Chr 8: 143.95 - 143.96 Mb

Chr 15: 74.68 - 74.68 Mb

Pubmed search

[1]

[2]

Steroid 11β-hydroxylase is a steroid hydroxylase found in the zona fasciculata.

Cytochrome P450, family 11, subfamily B, polypeptide 1, also known as CYP11B1, is a human gene.^[1]

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 mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene.^[1]

1 Function
2 Clinical significance
3 Additional images
4 References
5 Further reading
6 External links

[edit] Function

It generates cortisol from 11-deoxycortisol and corticosterone from 11-deoxycorticosterone. Note the extra "–OH" added at the 11 position (near the center, on ring "C"):

11-Deoxycortisol

Cortisol

11-deoxycorticosterone

Corticosterone

[edit] Clinical significance

A mutation is associated with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

[edit] Additional images

Steroidogenesis, showing steroid 11-beta-hydroxylase vertically at right.

Corticosteroid biosynthetic pathway in rat

Steroid numbering

[edit] References

^ ^a ^b Entrez Gene: CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1.

[edit] Further reading

Helmberg A (1993). "Twin genes and endocrine disease: CYP21 and CYP11B genes.". Acta Endocrinol. 129 (2): 97–108. PMID 8372604.
Stowasser M, Gunasekera TG, Gordon RD (2002). "Familial varieties of primary aldosteronism.". Clin. Exp. Pharmacol. Physiol. 28 (12): 1087–90. PMID 11903322.
Lifton RP, Dluhy RG, Powers M, et al. (1993). "Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase.". Nat. Genet. 2 (1): 66–74. doi:10.1038/ng0992-66. PMID 1303253.
Helmberg A, Ausserer B, Kofler R (1992). "Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.". J. Clin. Endocrinol. Metab. 75 (5): 1278–81. PMID 1430088.
Pascoe L, Curnow KM, Slutsker L, et al. (1992). "Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2.". Proc. Natl. Acad. Sci. U.S.A. 89 (17): 8327–31. PMID 1518866.
Kawamoto T, Mitsuuchi Y, Toda K, et al. (1992). "Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans.". Proc. Natl. Acad. Sci. U.S.A. 89 (4): 1458–62. PMID 1741400.
White PC, Dupont J, New MI, et al. (1991). "A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.". J. Clin. Invest. 87 (5): 1664–7. PMID 2022736.
Kawamoto T, Mitsuuchi Y, Toda K, et al. (1990). "Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta.". FEBS Lett. 269 (2): 345–9. PMID 2401360.
Mornet E, Dupont J, Vitek A, White PC (1990). "Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta).". J. Biol. Chem. 264 (35): 20961–7. PMID 2592361.
Chua SC, Szabo P, Vitek A, et al. (1987). "Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11).". Proc. Natl. Acad. Sci. U.S.A. 84 (20): 7193–7. PMID 3499608.
Naiki Y, Kawamoto T, Mitsuuchi Y, et al. (1994). "A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency.". J. Clin. Endocrinol. Metab. 77 (6): 1677–82. PMID 7903314.
Joehrer K, Geley S, Strasser-Wozak EM, et al. (1998). "CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.". Hum. Mol. Genet. 6 (11): 1829–34. PMID 9302260.
Cargill M, Altshuler D, Ireland J, et al. (1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes.". Nat. Genet. 22 (3): 231–8. doi:10.1038/10290. PMID 10391209.
Halushka MK, Fan JB, Bentley K, et al. (1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.". Nat. Genet. 22 (3): 239–47. doi:10.1038/10297. PMID 10391210.
Cao PR, Bernhardt R (1999). "Interaction of CYP11B1 (cytochrome P-45011 beta) with CYP11A1 (cytochrome P-450scc) in COS-1 cells.". Eur. J. Biochem. 262 (3): 720–6. PMID 10411633.
Loidi L, Quinteiro C, Barros F, et al. (2000). "The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population.". J. Clin. Endocrinol. Metab. 84 (12): 4749. PMID 10599751.
Chabre O, Portrat-Doyen S, Chaffanjon P, et al. (2000). "Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1.". J. Clin. Endocrinol. Metab. 85 (11): 4060–8. PMID 11095433.
Fisher A, Friel EC, Bernhardt R, et al. (2001). "Effects of 18-hydroxylated steroids on corticosteroid production by human aldosterone synthase and 11beta-hydroxylase.". J. Clin. Endocrinol. Metab. 86 (9): 4326–9. PMID 11549669.
Hampf M, Dao NT, Hoan NT, Bernhardt R (2001). "Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia.". J. Clin. Endocrinol. Metab. 86 (9): 4445–52. PMID 11549691.

[edit] External links

MeSH Steroid+11-beta-hydroxylase

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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 - 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 Cytochrome P450, oxygenases: steroid hydroxylases - steroidogenesis (EC 1.14)

To pregnenolone	Side-chain cleavage

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

To sex hormones	17-alpha-hydroxylase - Aromatase

Other	CYP27A1

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	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)