• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001026213 Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

Related Services

RefSeq Version NM_001026213.1, 71067342
Length 3353 bp
Structure linear
Update Date 06-APR-2014
Organism Homo sapiens (human)
Definition Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), 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)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
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
complement(6)-dbSNP:
complement(6)-g, adbSNP:6389
complement(16)-g, adbSNP:200581194
complement(32)-t, cdbSNP:150163594
36+a, gdbSNP:6405
complement(51)-t, cdbSNP:150983560
complement(57)-g, adbSNP:142591816
61+a, gdbSNP: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(116)-g, adbSNP:369941128
118+c, gdbSNP:397831740
131+c, tdbSNP:104894069
132+c, tdbSNP:193922538
complement(134)-g, adbSNP:369213890
135+a, gdbSNP:4534
complement(138)-t, cdbSNP:200952801
164+c, tdbSNP:61751135
complement(193)-t, cdbSNP:139381647
194+c, gdbSNP:5282
complement(225)-t, cdbSNP:371662064
complement(229)-t, cdbSNP:200096159
232+a, gdbSNP:6410
complement(250)-dbSNP:
complement(250)-g, adbSNP:9657022
253+c, tdbSNP:5283
complement(263)-g, cdbSNP:376893751
271+a, gdbSNP:193922539
complement(274)-t, cdbSNP:373778481
288+c, tdbSNP:104894070
295+c, tdbSNP:5284
complement(296)-t, cdbSNP:200867786
complement(299)-g, cdbSNP:200993800
complement(301)-t, cdbSNP:143211108
complement(337)-c, adbSNP:371431889
342+g, tdbSNP:61751139
354+a, gdbSNP:104894066
complement(368)-g, cdbSNP:113340222
complement(374)-g, adbSNP:145050906
complement(376)-g, adbSNP:150354099
complement(382)-g, cdbSNP:201137503
complement(392)-g, cdbSNP:377423817
complement(393)-g, adbSNP:373046641
404+dbSNP:
404+a, c, gdbSNP:104894067
complement(406)-t, adbSNP:144289742
420+a, gdbSNP:193922540
complement(429)-t, cdbSNP:267601810
complement(434)-g, adbSNP:140336749
complement(442)-g, adbSNP:150930202
448+a, tdbSNP:61751148
complement(456)-g, adbSNP:142484434
463+c, g, tdbSNP:61751149
complement(464)-t, cdbSNP:200151403
466+c, tdbSNP:61751150
complement(483)-g, adbSNP:370266763
484+c, gdbSNP:61751151
complement(487)-g, cdbSNP:5287
complement(488)-c, adbSNP:202053407
506+a, gdbSNP:61751152
complement(511)-g, adbSNP:199819891
complement(519)-g, adbSNP:201526062
complement(525)-t, cdbSNP:142163070
complement(545)-t, cdbSNP:140123041
complement(548)-g, adbSNP:373856010
complement(549)-g, cdbSNP:146105017
complement(553)-c, adbSNP:369815594
562+c, tdbSNP:61751153
complement(566)-t, cdbSNP:377366635
613+dbSNP:
613+a, gdbSNP:61751154
complement(617)-g, cdbSNP:191294148
complement(629)-g, adbSNP:372378491
complement(630)-t, cdbSNP:200559974
complement(639)-t, adbSNP:368125568
complement(652)-g, adbSNP:199525592
complement(673)-t, gdbSNP:138185120
complement(711)-g, adbSNP:375222597
complement(726)-g, adbSNP:141397092
complement(744)-t, cdbSNP:148066255
750+c, tdbSNP:34620645
778+g, tdbSNP:5288
792+a, gdbSNP:61751155
complement(805)-g, adbSNP:370404312
complement(808)-dbSNP:
complement(808)-g, adbSNP:147004517
complement(830)-g, adbSNP:141368413
832+c, tdbSNP:5290
849+a, gdbSNP:5291
complement(862)-g, cdbSNP:191126800
880+a, gdbSNP:34570566
884+c, gdbSNP:5292
complement(897)-g, adbSNP:375892072
complement(899)-g, cdbSNP:372463434
complement(900)-t, gdbSNP:200994388
903+c, tdbSNP:387907573
complement(906)-g, c, adbSNP:202091168
complement(912)-t, cdbSNP:370226163
924+c, tdbSNP:387907572
complement(931)-g, adbSNP:199962349
935+a, gdbSNP:387907574
complement(937)-t, cdbSNP:148707144
complement(952)-g, adbSNP:372647044
complement(953)-t, cdbSNP:375833424
960+c, tdbSNP:104894061
963+dbSNP:
963+c, tdbSNP:104894068
995+c, tdbSNP:61752765
complement(1002)-t, cdbSNP:149881706
1010+a, gdbSNP:61752766
complement(1021)-t, cdbSNP:151335623
1022..1023+at, gcdbSNP:193922535
1022+a, gdbSNP:193922534
1023+c, tdbSNP:193922536
complement(1028)-g, adbSNP:372115638
1049+a, gdbSNP:6407
1054+c, gdbSNP:61752767
complement(1071)-g, adbSNP:200197179
complement(1073)-g, adbSNP:146124466
complement(1087)-g, cdbSNP:374343296
1093+c, gdbSNP:6403
complement(1104)-t, cdbSNP:370188543
1105+g, tdbSNP:61752769
1110+a, cdbSNP:104894071
complement(1119)-t, cdbSNP:368944209
1128+a, gdbSNP:104894062
complement(1137)-dbSNP:
complement(1137)-g, adbSNP:370757808
complement(1164)-t, cdbSNP:4541
complement(1165)-t, cdbSNP:142887967
complement(1172)-g, cdbSNP:200711326
1240+dbSNP:
1240+c, tdbSNP:5296
complement(1255)-g, cdbSNP:377722814
complement(1260)-t, adbSNP:374517238
complement(1274)-g, adbSNP:373736765
complement(1325)-g, adbSNP:369542153
complement(1359)-t, cdbSNP:376219179
1374+c, tdbSNP:61752797
complement(1452)-t, cdbSNP:368733231
complement(1453)-t, cdbSNP:5297
complement(1514)-t, adbSNP:61752798
complement(1529)-t, gdbSNP:5298
1605+c, tdbSNP:61752799
complement(1628)-g, adbSNP:375429674
1639+a, gdbSNP:5299
complement(1666)-t, gdbSNP:368195405
complement(1672)-t, adbSNP:188465720
1700+c, tdbSNP:61752800
complement(1703)-g, adbSNP:185914267
1721+c, tdbSNP:61752801
complement(1772)-c, adbSNP:5300
complement(1772)-c, adbSNP:386598256
complement(1789)-g, adbSNP:114832894
complement(1792)-t, gdbSNP:12543598
1837+a, gdbSNP:5301
complement(1848)-g, c, adbSNP:3802229
complement(1865)-t, gdbSNP:5027479
complement(1889)-t, cdbSNP:5027480
1934+a, gdbSNP:1137480
complement(1936)-t, cdbSNP:368791176
1955+a, gdbSNP:1137481
complement(1966)-g, adbSNP:5302
complement(1966)-g, adbSNP:386598262
1980+a, gdbSNP:1137483
complement(1997)-t, cdbSNP:1137484
complement(1997)-g, adbSNP:386518118
2008+c, gdbSNP:1137485
complement(2013)-g, adbSNP:1137486
complement(2013)-g, adbSNP:386518119
2015+c, tdbSNP:5303
complement(2033..2037)-, cacagdbSNP:372606628
2036+a, tdbSNP:1137487
complement(2037..2041)-, acagcdbSNP:111671090
complement(2039)-c, adbSNP:189479208
2049+a, gdbSNP:1137488
2056+c, tdbSNP:61752802
2059+a, gdbSNP:5304
2137+a, gdbSNP:61752803
2151+a, gdbSNP:61752804
complement(2169)-g, adbSNP:149520110
complement(2172)-g, cdbSNP:184751303
complement(2178)-g, adbSNP:370725779
complement(2202)-t, cdbSNP:376579079
complement(2207)-g, adbSNP:373585885
complement(2221)-t, gdbSNP:370687720
complement(2244)-g, cdbSNP:61752805
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
2621+c, tdbSNP:61752810
2644+c, tdbSNP:61752811
complement(2711..2712)-, cdbSNP:34274727
complement(2738)-g, adbSNP:61752812
2785+a, gdbSNP:61752813
complement(2814)-t, gdbSNP:150383147
2820+c, tdbSNP:1134095
complement(2820)-g, adbSNP:111171363
complement(2833)-g, adbSNP:61752814
2875+c, gdbSNP:61752815
2887+g, tdbSNP:1134096
complement(2902)-t, cdbSNP:192138518
complement(3084)-t, gdbSNP:372158919
complement(3091)-t, adbSNP:369448045
complement(3132)-t, cdbSNP:61752816
3166+a, gdbSNP:61752817
complement(3169)-t, gdbSNP:371954555
complement(3173)-c, adbSNP:4736312
3192+a, tdbSNP:61752818
complement(3250)-t, gdbSNP:201626683
Gene SymbolCYP11B1
Gene SynonymCPN1; CYP11B; FHI; P450C11
Chromosome8
Locus Map8q21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001026213 Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), transcript variant 2, mRNA. On-demand $699.00 18
NM_000497 Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), transcript variant 1, mRNA. In-stock $509.00 $460.00 12
XM_005250807 PREDICTED: Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), transcript variant X1, mRNA. On-demand $849.00 20
Title Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis .
Author Prasad R, Metherell LA, Clark AJ and Storr HL.
Journal Endocrinology 154 (9), 3209-3218 (2013)
Title Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients .
Author Abbaszadegan MR, Hassani S, Vakili R, Saberi MR, Baradaran-Heravi A, A'rabi A, Hashemipour M, Razzaghi-Azar M, Moaven O, Baratian A, Ahadian M, Keify F and Meurice N.
Journal Endocrine 44 (1), 212-219 (2013)
Title Common polymorphisms in the CYP11B1 and CYP11B2 genes: evidence for a digenic influence on hypertension .
Author Alvarez-Madrazo S, Mackenzie SM, Davies E, Fraser R, Lee WK, Brown M, Caulfield MJ, Dominiczak AF, Farrall M, Lathrop M, Hedner T, Melander O, Munroe PB, Samani N, Stewart PM, Wahlstrand B, Webster J, Palmer CN, Padmanabhan S and Connell JM.
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 Identification and functional characterization of a large deletion of the CYP11B1 gene causing an 11beta-Hydroxylase deficiency in a Chinese pedigree .
Author Xu C, Qiao J, Liu W, Jiang X, Yan F, Wu J, Han B, Zhang H, Guan Q, Gao L and Zhao J.
Journal Horm Res Paediatr 78 (4), 212-217 (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 DR, Zeldin DC, Hoffman SM, Maltais LJ, Wain HM and Nebert DW.
Journal Pharmacogenetics 14 (1), 1-18 (2004)
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 KM, Slutsker L, Connell JM, Speiser PW, New MI and White PC.
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 RP, Dluhy RG, Powers M, Rich GM, Gutkin M, Fallo F, Gill JR Jr, Feld L, Ganguly A and Laidlaw JC.
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 and Imura H.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (4), 1458-1462 (1992)

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.