Cytochrome P450 11B1, mitochondrial
Details
- Name
- Cytochrome P450 11B1, mitochondrial
- Synonyms
- CYPXIB1
- Cytochrome P-450c11
- Cytochrome P450C11
- S11BH
- Steroid 11-beta-hydroxylase
- Gene Name
- CYP11B1
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0037064|Cytochrome P450 11B1, mitochondrial MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQG YEDLHLEVHQTFQELGPIFRYDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYR QHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPMVDAVARDFSQALKKKVLQNA RGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELS PDAIKANSMELTAGSVDTTVFPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATT ELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAGTLVRVFLYSLGRNPALFPRP ERYNPQRWLDIRGSGRNFYHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHLQVETLTQED IKMVYSFILRPSMFPLLTFRAIN
- Number of residues
- 503
- Molecular Weight
- 57572.44
- Theoretical pI
- 9.42
- GO Classification
- Functionscorticosterone 18-monooxygenase activity / heme binding / iron ion binding / oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen / steroid 11-beta-monooxygenase activityProcessesaldosterone biosynthetic process / C21-steroid hormone biosynthetic process / cellular response to hormone stimulus / cellular response to peptide hormone stimulus / cellular response to potassium ion / cholesterol metabolic process / cortisol biosynthetic process / glucocorticoid biosynthetic process / glucose homeostasis / immune response / oxidation-reduction process / regulation of blood pressure / secondary metabolite biosynthetic process / small molecule metabolic process / steroid metabolic process / sterol metabolic process / xenobiotic metabolic processComponentsmitochondrial inner membrane / mitochondrion
- General Function
- Steroid 11-beta-monooxygenase activity
- Specific Function
- Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB.
- Pfam Domain Function
- p450 (PF00067)
- Transmembrane Regions
- Not Available
- Cellular Location
- Mitochondrion membrane
- Gene sequence
>lcl|BSEQ0016190|Cytochrome P450 11B1, mitochondrial (CYP11B1) ATGGCACTCAGGGCAAAGGCAGAGGTGTGCATGGCAGTGCCCTGGCTGTCCCTGCAAAGG GCACAGGCACTGGGCACGAGAGCCGCCCGGGTCCCCAGGACAGTGCTGCCCTTTGAAGCC ATGCCCCGGCGTCCAGGCAACAGGTGGCTGAGGCTGCTGCAGATCTGGAGGGAGCAGGGT TATGAGGACCTGCACCTGGAAGTACACCAGACCTTCCAGGAACTAGGGCCCATTTTCAGG TACGACTTGGGAGGAGCAGGCATGGTGTGTGTGATGCTGCCGGAGGACGTGGAGAAGCTG CAACAGGTGGACAGCCTGCATCCCCACAGGATGAGCCTGGAGCCCTGGGTGGCCTACAGA CAACATCGTGGGCACAAATGTGGCGTGTTCTTGCTGAATGGGCCTGAATGGCGCTTCAAC CGATTGCGGCTGAATCCAGAAGTGCTGTCGCCCAACGCTGTGCAGAGGTTCCTCCCGATG GTGGATGCAGTGGCCAGGGACTTCTCCCAGGCCCTGAAGAAGAAGGTGCTGCAGAACGCC CGGGGGAGCCTGACCCTGGACGTCCAGCCCAGCATCTTCCACTACACCATAGAAGCCAGC AACTTGGCTCTTTTTGGAGAGCGGCTGGGCCTGGTTGGCCACAGCCCCAGTTCTGCCAGC CTGAACTTCCTCCATGCCCTGGAGGTCATGTTCAAATCCACCGTCCAGCTCATGTTCATG CCCAGGAGCCTGTCTCGCTGGACCAGCCCCAAGGTGTGGAAGGAGCACTTTGAGGCCTGG GACTGCATCTTCCAGTACGGCGACAACTGTATCCAGAAAATCTATCAGGAACTGGCCTTC AGCCGCCCTCAACAGTACACCAGCATCGTGGCGGAGCTCCTGTTGAATGCGGAACTGTCG CCAGATGCCATCAAGGCCAACTCTATGGAACTCACTGCAGGGAGCGTGGACACGACGGTG TTTCCCTTGCTGATGACGCTCTTTGAGCTGGCTCGGAACCCCAACGTGCAGCAGGCCCTG CGCCAGGAGAGCCTGGCCGCCGCAGCCAGCATCAGTGAACATCCCCAGAAGGCAACCACC GAGCTGCCCTTGCTGCGTGCGGCCCTCAAGGAGACCTTGCGGCTCTACCCTGTGGGTCTG TTTCTGGAGCGAGTGGCGAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGG ACATTGGTGCGCGTGTTCCTCTACTCTCTGGGTCGCAACCCCGCCTTGTTCCCGAGGCCT GAGCGCTATAACCCCCAGCGCTGGCTAGACATCAGGGGCTCCGGCAGGAACTTCTACCAC GTGCCCTTTGGCTTTGGCATGCGCCAGTGCCTTGGGCGGCGCCTGGCAGAGGCAGAGATG CTGCTGCTGCTGCACCATGTGCTGAAACACCTCCAGGTGGAGACACTAACCCAAGAGGAC ATAAAGATGGTCTACAGCTTCATATTGAGGCCCAGCATGTTCCCCCTCCTCACCTTCAGA GCCATCAACTAA
- Chromosome Location
- 8
- Locus
- 8q21
- External Identifiers
Resource Link UniProtKB ID P15538 UniProtKB Entry Name C11B1_HUMAN GenBank Protein ID 181333 GenBank Gene ID M32879 GenAtlas ID CYP11B1 HGNC ID HGNC:2591 - General References
- Mornet E, Dupont J, Vitek A, White PC: Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta). J Biol Chem. 1989 Dec 15;264(35):20961-7. [Article]
- Kawamoto T, Mitsuuchi Y, Toda K, Miyahara K, Yokoyama Y, Nakao K, Hosoda K, Yamamoto Y, Imura H, Shizuta Y: Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta. FEBS Lett. 1990 Sep 3;269(2):345-9. [Article]
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- Naiki Y, Kawamoto T, Mitsuuchi Y, Miyahara K, Toda K, Orii T, Imura H, Shizuta Y: A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency. J Clin Endocrinol Metab. 1993 Dec;77(6):1677-82. [Article]
- Chua SC, Szabo P, Vitek A, Grzeschik KH, John M, White PC: Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11). Proc Natl Acad Sci U S A. 1987 Oct;84(20):7193-7. [Article]
- Kawamoto T, Mitsuuchi Y, Toda K, Yokoyama Y, Miyahara K, Miura S, Ohnishi T, Ichikawa Y, Nakao K, Imura H, et al.: 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. 1992 Feb 15;89(4):1458-62. [Article]
- White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rosler A: A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. J Clin Invest. 1991 May;87(5):1664-7. [Article]
- Joehrer K, Geley S, Strasser-Wozak EM, Azziz R, Wollmann HA, Schmitt K, Kofler R, White PC: CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Hum Mol Genet. 1997 Oct;6(11):1829-34. [Article]
- Loidi L, Quinteiro C, Barros F, Dominguez F, Barreiro J, Pombo M: The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population. J Clin Endocrinol Metab. 1999 Dec;84(12):4749. [Article]
- Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul;22(3):231-8. [Article]
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- Grigorescu Sido A, Weber MM, Grigorescu Sido P, Clausmeyer S, Heinrich U, Schulze E: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2005 Oct;90(10):5769-73. Epub 2005 Jul 26. [Article]
- Kharrat M, Trabelsi S, Chaabouni M, Maazoul F, Kraoua L, Ben Jemaa L, Gandoura N, Barsaoui S, Morel Y, M'rad R, Chaabouni H: Only two mutations detected in 15 Tunisian patients with 11beta-hydroxylase deficiency: the p.Q356X and the novel p.G379V. Clin Genet. 2010 Oct;78(4):398-401. doi: 10.1111/j.1399-0004.2010.01403.x. [Article]
- Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijoo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency. J Clin Endocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20. [Article]
- Wu C, Zhou Q, Wan L, Ni L, Zheng C, Qian Y, Jin J: Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11beta-hydroxylase deficiency in a Chinese patient. Fertil Steril. 2011 Mar 1;95(3):1122.e3-6. doi: 10.1016/j.fertnstert.2010.09.035. Epub 2010 Oct 14. [Article]
- Reisch N, Hogler W, Parajes S, Rose IT, Dhir V, Gotzinger J, Arlt W, Krone N: A diagnosis not to be missed: nonclassic steroid 11beta-hydroxylase deficiency presenting with premature adrenarche and hirsutism. J Clin Endocrinol Metab. 2013 Oct;98(10):E1620-5. doi: 10.1210/jc.2013-1306. Epub 2013 Aug 12. [Article]
- Polat S, Kulle A, Karaca Z, Akkurt I, Kurtoglu S, Kelestimur F, Grotzinger J, Holterhus PM, Riepe FG: Characterisation of three novel CYP11B1 mutations in classic and non-classic 11beta-hydroxylase deficiency. Eur J Endocrinol. 2014 Apr 10;170(5):697-706. doi: 10.1530/EJE-13-0737. Print 2014 May. [Article]
- Menabo S, Polat S, Baldazzi L, Kulle AE, Holterhus PM, Grotzinger J, Fanelli F, Balsamo A, Riepe FG: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations. Eur J Hum Genet. 2014 May;22(5):610-6. doi: 10.1038/ejhg.2013.197. Epub 2013 Sep 11. [Article]
- Mooij CF, Parajes S, Rose IT, Taylor AE, Bayraktaroglu T, Wass JA, Connell JM, Ray DW, Arlt W, Krone N: Characterization of the molecular genetic pathology in patients with 11beta-hydroxylase deficiency. Clin Endocrinol (Oxf). 2015 Nov;83(5):629-35. doi: 10.1111/cen.12834. Epub 2015 Jul 14. [Article]
Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB00648 Mitotane approved yes inducer Details DB05667 Levoketoconazole approved, investigational yes inhibitor Details DB01011 Metyrapone approved, investigational yes inhibitor Details DB04630 Aldosterone experimental, investigational unknown substrate Details DB00501 Cimetidine approved, investigational unknown inhibitor Details DB00292 Etomidate approved unknown inhibitor Details DB00741 Hydrocortisone approved, vet_approved unknown substrate Details DB01026 Ketoconazole approved, investigational unknown inhibitor Details DB01011 Metyrapone approved, investigational unknown inhibitor Details DB01388 Mibefradil investigational, withdrawn unknown inhibitor Details DB01110 Miconazole approved, investigational, vet_approved unknown inhibitor Details DB00252 Phenytoin approved, vet_approved no inhibitor Details DB00421 Spironolactone approved unknown inducer Details DB14539 Hydrocortisone acetate approved, vet_approved unknown substrate Details DB14540 Hydrocortisone butyrate approved, vet_approved unknown substrate Details DB14543 Hydrocortisone probutate approved, vet_approved unknown substrate Details DB14544 Hydrocortisone valerate approved, vet_approved unknown substrate Details DB14545 Hydrocortisone succinate approved no substrate Details DB01234 Dexamethasone approved, investigational, vet_approved unknown inhibitor Details DB11837 Osilodrostat approved, investigational yes inhibitor Details DB14649 Dexamethasone acetate approved, investigational, vet_approved unknown inhibitor Details