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
Functions
corticosterone 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 activity
Processes
aldosterone 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 process
Components
mitochondrial 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
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
ResourceLink
UniProtKB IDP15538
UniProtKB Entry NameC11B1_HUMAN
GenBank Protein ID181333
GenBank Gene IDM32879
GenAtlas IDCYP11B1
HGNC IDHGNC:2591
General References
  1. 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]
  2. 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]
  3. Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S, Garber M, Kodira CD, Schueler MG, Shimizu A, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Allen NR, Anderson S, Asakawa T, Blechschmidt K, Bloom T, Borowsky ML, Butler J, Cook A, Corum B, DeArellano K, DeCaprio D, Dooley KT, Dorris L 3rd, Engels R, Glockner G, Hafez N, Hagopian DS, Hall JL, Ishikawa SK, Jaffe DB, Kamat A, Kudoh J, Lehmann R, Lokitsang T, Macdonald P, Major JE, Matthews CD, Mauceli E, Menzel U, Mihalev AH, Minoshima S, Murayama Y, Naylor JW, Nicol R, Nguyen C, O'Leary SB, O'Neill K, Parker SC, Polley A, Raymond CK, Reichwald K, Rodriguez J, Sasaki T, Schilhabel M, Siddiqui R, Smith CL, Sneddon TP, Talamas JA, Tenzin P, Topham K, Venkataraman V, Wen G, Yamazaki S, Young SK, Zeng Q, Zimmer AR, Rosenthal A, Birren BW, Platzer M, Shimizu N, Lander ES: DNA sequence and analysis of human chromosome 8. Nature. 2006 Jan 19;439(7074):331-5. [Article]
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  5. 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]
  6. 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]
  7. 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]
  8. 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]
  9. 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]
  10. 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]
  11. 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]
  12. Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet. 1999 Jul;22(3):239-47. [Article]
  13. 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]
  14. 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]
  15. 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]
  16. 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]
  17. 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]
  18. 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]
  19. 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]
  20. 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 IDNameDrug groupPharmacological action?ActionsDetails
DB00648MitotaneapprovedyesinducerDetails
DB05667Levoketoconazoleapproved, investigationalunknownDetails
DB01011Metyraponeapproved, investigationalyesinhibitorDetails
DB04630Aldosteroneexperimental, investigationalunknownsubstrateDetails
DB00501Cimetidineapproved, investigationalunknowninhibitorDetails
DB00292EtomidateapprovedunknowninhibitorDetails
DB00741Hydrocortisoneapproved, vet_approvedunknownsubstrateDetails
DB01026Ketoconazoleapproved, investigationalunknowninhibitorDetails
DB01011Metyraponeapproved, investigationalunknowninhibitorDetails
DB01388Mibefradilinvestigational, withdrawnunknowninhibitorDetails
DB01110Miconazoleapproved, investigational, vet_approvedunknowninhibitorDetails
DB00252Phenytoinapproved, vet_approvedunknowninhibitorDetails
DB00421SpironolactoneapprovedunknowninducerDetails
DB14539Hydrocortisone acetateapproved, vet_approvedunknownsubstrateDetails
DB14540Hydrocortisone butyrateapproved, vet_approvedunknownsubstrateDetails
DB14543Hydrocortisone probutateapproved, vet_approvedunknownsubstrateDetails
DB14544Hydrocortisone valerateapproved, vet_approvedunknownsubstrateDetails
DB14545Hydrocortisone succinateapprovednosubstrateDetails
DB01234Dexamethasoneapproved, investigational, vet_approvedunknowninhibitorDetails
DB11837Osilodrostatapproved, investigationalyesinhibitorDetails
DB14649Dexamethasone acetateapproved, investigational, vet_approvedunknowninhibitorDetails
DB05667Levoketoconazoleapproved, investigationalunknowninhibitorDetails