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Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_001026213 Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. ORF Sequence $381.06
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RefSeq Version NM_001026213.1, 71067342
Length 3353 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
Product cytochrome P450 11B1, mitochondrial isoform 2 precursor
Comment

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 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. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (2) lacks an in-frame coding exon compared to transcript variant 1. This results in an isoform (2) that is missing a 66 aa segment compared to isoform 1.

RefSeq NP_001021384.1
CDS 8..1321
Misc Feature(1)128..>1207
Misc Feature(2)131..>1207
Exon (1)247..402
Gene:CYP11B1
Gene Synonym:CPN1; CYP11B; FHI; P450C11
Exon (2)403..602
Gene:CYP11B1
Gene Synonym:CPN1; CYP11B; FHI; P450C11
Exon (3)603..806
Gene:CYP11B1
Gene Synonym:CPN1; CYP11B; FHI; P450C11
Exon (4)807..961
Gene:CYP11B1
Gene Synonym:CPN1; CYP11B; FHI; P450C11
Exon (5)962..1128
Gene:CYP11B1
Gene Synonym:CPN1; CYP11B; FHI; P450C11
Exon (6)1129..1207
Gene:CYP11B1
Gene Synonym:CPN1; CYP11B; FHI; P450C11
Exon (7)1208..3337
Gene:CYP11B1
Gene Synonym:CPN1; CYP11B; FHI; P450C11
Translation MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQG YEDLHLEVHQTFQELGPIFRYDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYR QHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPMVDAVARDFSQALKKKVLQNA RGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELS PDAIKANSMELTAGSVDTTVFPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATT ELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAGVLKHLQVETLTQEDIKMVYS FILRPSMFPLLTFRAIN
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Position Chain Variation Link
complement(6)-dbSNP:
complement(6)-g, adbSNP:6389
complement(16)-g, adbSNP:200581194
complement(32)-t, cdbSNP:150163594
complement(36)-g, adbSNP:6405
complement(51)-t, cdbSNP:150983560
complement(57)-g, adbSNP:142591816
complement(61)-g, adbSNP:61751134
complement(84)-g, adbSNP:139569725
complement(85)-t, cdbSNP:147788769
complement(92)-t, cdbSNP:144224988
complement(95)-g, adbSNP:140274628
complement(96)-t, cdbSNP:201103987
complement(111)-g, adbSNP:201951316
complement(131)-t, cdbSNP:104894069
complement(132)-t, cdbSNP:193922538
complement(135)-g, adbSNP:4534
complement(138)-t, cdbSNP:200952801
complement(164)-t, cdbSNP:61751135
complement(193)-t, cdbSNP:139381647
complement(194)-g, cdbSNP:5282
complement(229)-t, cdbSNP:200096159
complement(232)-g, adbSNP:6410
complement(235)-c, adbSNP:142099415
complement(236)-g, adbSNP:138874844
complement(250)-dbSNP:
complement(250)-g, adbSNP:9657022
complement(253)-t, cdbSNP:5283
complement(271)-g, adbSNP:193922539
complement(288)-t, cdbSNP:104894070
complement(295)-t, cdbSNP:5284
complement(296)-t, cdbSNP:200867786
complement(299)-g, cdbSNP:200993800
complement(301)-t, cdbSNP:143211108
complement(342)-t, gdbSNP:61751139
complement(354)-g, adbSNP:104894066
complement(368)-g, cdbSNP:113340222
complement(374)-g, adbSNP:145050906
complement(376)-g, adbSNP:150354099
complement(382)-g, cdbSNP:201137503
complement(401)-t, cdbSNP:5285
complement(404)-dbSNP:
complement(404)-g, c, adbSNP:104894067
complement(406)-t, adbSNP:144289742
complement(420)-g, adbSNP:193922540
complement(434)-g, adbSNP:140336749
complement(442)-g, adbSNP:150930202
complement(448)-t, adbSNP:61751148
complement(456)-g, adbSNP:142484434
complement(463)-t, g, cdbSNP:61751149
complement(464)-t, cdbSNP:200151403
complement(466)-t, cdbSNP:61751150
complement(484)-g, cdbSNP:61751151
complement(487)-g, cdbSNP:5287
complement(488)-c, adbSNP:202053407
complement(506)-g, adbSNP:61751152
complement(511)-g, adbSNP:199819891
complement(519)-g, adbSNP:201526062
complement(525)-t, cdbSNP:142163070
complement(545)-t, cdbSNP:140123041
complement(549)-g, cdbSNP:146105017
complement(562)-t, cdbSNP:61751153
complement(613)-dbSNP:
complement(613)-g, adbSNP:61751154
complement(617)-g, cdbSNP:191294148
complement(630)-t, cdbSNP:200559974
complement(652)-g, adbSNP:199525592
complement(673)-t, gdbSNP:138185120
complement(706)-t, gdbSNP:150405511
complement(726)-g, adbSNP:141397092
complement(744)-t, cdbSNP:148066255
complement(750)-t, cdbSNP:34620645
complement(778)-t, gdbSNP:5288
complement(792)-g, adbSNP:61751155
complement(808)-dbSNP:
complement(808)-g, adbSNP:147004517
complement(830)-g, adbSNP:141368413
complement(832)-t, cdbSNP:5290
complement(849)-g, adbSNP:5291
complement(862)-g, cdbSNP:191126800
complement(880)-g, adbSNP:34570566
complement(884)-g, cdbSNP:5292
complement(900)-t, gdbSNP:200994388
complement(906)-g, c, adbSNP:202091168
complement(931)-g, adbSNP:199962349
complement(937)-t, cdbSNP:148707144
complement(960)-t, cdbSNP:104894061
complement(963)-dbSNP:
complement(963)-t, cdbSNP:104894068
complement(995)-t, cdbSNP:61752765
complement(1002)-t, cdbSNP:149881706
complement(1010)-g, adbSNP:61752766
complement(1021)-t, cdbSNP:151335623
complement(1022..1023)-at, gcdbSNP:193922535
complement(1022)-g, adbSNP:193922534
complement(1023)-t, cdbSNP:193922536
complement(1049)-g, adbSNP:6407
complement(1054)-g, cdbSNP:61752767
complement(1071)-g, adbSNP:200197179
complement(1073)-g, adbSNP:146124466
complement(1093)-g, cdbSNP:6403
complement(1105)-t, gdbSNP:61752769
complement(1110)-c, adbSNP:104894071
complement(1117)-t, cdbSNP:144717427
complement(1127)-t, c, adbSNP:61752786
complement(1128)-g, adbSNP:104894062
complement(1151)-dbSNP:
complement(1151)-t, cdbSNP:5293
complement(1164)-t, cdbSNP:4541
complement(1165)-t, cdbSNP:142887967
complement(1172)-g, cdbSNP:200711326
complement(1185)-t, gdbSNP:138880254
complement(1240)-dbSNP:
complement(1240)-t, cdbSNP:5296
complement(1374)-t, cdbSNP:61752797
complement(1453)-t, cdbSNP:5297
complement(1514)-t, adbSNP:61752798
complement(1529)-t, gdbSNP:5298
complement(1605)-t, cdbSNP:61752799
complement(1639)-g, adbSNP:5299
complement(1672)-t, adbSNP:188465720
complement(1700)-t, cdbSNP:61752800
complement(1703)-g, adbSNP:185914267
complement(1721)-t, cdbSNP:61752801
complement(1772)-c, adbSNP:5300
complement(1789)-g, adbSNP:114832894
complement(1792)-t, gdbSNP:12543598
complement(1837)-g, adbSNP:5301
complement(1848)-g, c, adbSNP:3802229
complement(1850)-t, cdbSNP:5027478
complement(1865)-t, gdbSNP:5027479
complement(1889)-t, cdbSNP:5027480
complement(1934)-g, adbSNP:1137480
complement(1955)-g, adbSNP:1137481
complement(1966)-g, adbSNP:5302
complement(1980)-g, adbSNP:1137483
complement(1997)-t, cdbSNP:1137484
complement(2008)-g, cdbSNP:1137485
complement(2013)-g, adbSNP:1137486
complement(2015)-t, cdbSNP:5303
complement(2036)-t, adbSNP:1137487
complement(2037..2041)-, acagcdbSNP:111671090
complement(2039)-c, adbSNP:189479208
complement(2049)-g, adbSNP:1137488
complement(2056)-t, cdbSNP:61752802
complement(2059)-g, adbSNP:5304
complement(2137)-g, adbSNP:61752803
complement(2151)-g, adbSNP:61752804
complement(2169)-g, adbSNP:149520110
complement(2172)-g, cdbSNP:184751303
complement(2244)-g, cdbSNP:61752805
complement(2253)-g, adbSNP:5017240
complement(2257)-t, cdbSNP:5017239
complement(2340..2341)-t, cdbSNP:72552274
complement(2341..2342)-, gdbSNP:35673190
complement(2341)-g, adbSNP:5017238
complement(2351)-c, adbSNP:5017237
complement(2363)-t, cdbSNP:7003319
complement(2397)-t, cdbSNP:61752806
complement(2459)-, tdbSNP:148110533
complement(2483)-g, adbSNP:61752807
complement(2579)-g, adbSNP:61752808
complement(2609)-g, adbSNP:61752809
complement(2621)-t, cdbSNP:61752810
complement(2644)-t, cdbSNP:61752811
complement(2712..2713)-, cdbSNP:34274727
complement(2738)-g, adbSNP:61752812
complement(2785)-g, adbSNP:61752813
complement(2814)-t, gdbSNP:150383147
complement(2820)-t, cdbSNP:1134095
complement(2833)-g, adbSNP:61752814
complement(2875)-g, cdbSNP:61752815
complement(2887)-t, gdbSNP:1134096
complement(2902)-t, cdbSNP:192138518
complement(3132)-t, cdbSNP:61752816
complement(3166)-g, adbSNP:61752817
complement(3173)-c, adbSNP:4736312
complement(3192)-t, adbSNP:61752818
complement(3250)-t, gdbSNP:201626683
Gene SymbolCYP11B1
Gene SynonymCPN1; CYP11B; FHI; P450C11
Chromosome8
Locus Map8q21
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000497 Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $1242.85
ORF Sequence $438.48
NM_001026213 Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. Full Length $1173.55
ORF Sequence $381.06
Title Common polymorphisms in the CYP11B1 and CYP11B2 genes: evidence for a digenic influence on hypertension .
Author Alvarez-Madrazo,S., Mackenzie,S.M., Davies,E., Fraser,R., Lee,W.K., Brown,M., Caulfield,M.J., Dominiczak,A.F., Farrall,M., Lathrop,M., Hedner,T., Melander,O., Munroe,P.B., Samani,N., Stewart,P.M., Wahlstrand,B., Webster,J., Palmer,C.N., Padmanabhan,S. and Connell,J.M.
Journal Hypertension 61 (1), 232-239 (2013)
Title A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency .
Author Zhang,M., Liu,Y., Sun,S., Zhang,H., Wang,W., Ning,G. and Li,X.
Journal J. Steroid Biochem. Mol. Biol. 133, 25-29 (2013)
Title Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11beta-hydroxylase deficiency .
Author Nguyen,H.H., Nguyen,T.H., Vu,C.D., Nguyen,K.T., Le,B.V., Nguyen,T.L. and Nong,V.H.
Journal Gene 509 (2), 295-297 (2012)
Title A new presentation of the chimeric CYP11B1/CYP11B2 gene with low prevalence of primary aldosteronism and atypical gene segregation pattern .
Author Carvajal,C.A., Campino,C., Martinez-Aguayo,A., Tichauer,J.E., Bancalari,R., Valdivia,C., Trejo,P., Aglony,M., Baudrand,R., Lagos,C.F., Mellado,C., Garcia,H. and Fardella,C.E.
Journal Hypertension 59 (1), 85-91 (2012)
Title Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants .
Author Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and Nebert,D.W.
Journal Pharmacogenetics 14 (1), 1-18 (2004)
Title Molecular genetic studies on the biosynthesis of aldosterone in humans .
Author Shizuta,Y., Kawamoto,T., Mitsuuchi,Y., Toda,K., Miyahara,K., Ichikawa,Y., Imura,H. and Ulick,S.
Journal J. Steroid Biochem. Mol. Biol. 43 (8), 981-987 (1992)
Title Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency .
Author Helmberg,A., Ausserer,B. and Kofler,R.
Journal J. Clin. Endocrinol. Metab. 75 (5), 1278-1281 (1992)
Title Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2 .
Author Pascoe,L., Curnow,K.M., Slutsker,L., Connell,J.M., Speiser,P.W., New,M.I. and White,P.C.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (17), 8327-8331 (1992)
Title Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase .
Author Lifton,R.P., Dluhy,R.G., Powers,M., Rich,G.M., Gutkin,M., Fallo,F., Gill,J.R. Jr., Feld,L., Ganguly,A., Laidlaw,J.C. et al.
Journal Nat. Genet. 2 (1), 66-74 (1992)
Title Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans .
Author Kawamoto,T., Mitsuuchi,Y., Toda,K., Yokoyama,Y., Miyahara,K., Miura,S., Ohnishi,T., Ichikawa,Y., Nakao,K., Imura,H. et al.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (4), 1458-1462 (1992)

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