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Reviewed, UniProtKB/Swiss-Prot P15538 (C11B1_HUMAN)

Last modified June 16, 2009. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Cytochrome P450 11B1, mitochondrial
Alternative name(s):
    CYPXIB1
    P-450c11
      Short name=P450C11
    Steroid 11-beta-hydroxylase
    EC=1.14.15.4
Gene names
Name: CYP11B1
Synonyms: S11BH
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length503 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

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.

Catalytic activity

A steroid + reduced adrenal ferredoxin + O2 = an 11-beta-hydroxysteroid + oxidized adrenal ferredoxin + H2O.

Cofactor

Heme group By similarity.

Subcellular location

Mitochondrion membrane.

Involvement in disease

Defects in CYP11B1 are the cause of adrenal hyperplasia type 4 (AH4) [MIM:202010]. AH4 is a form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: "salt wasting" (SW, the most severe type), "simple virilizing" (SV, less severely affected patients), with normal aldosterone biosynthesis, "non-classic form" or late onset (NC or LOAH), and "cryptic" (asymptomatic). AH4 patients usually have hypertension. Ref.10 Ref.11

An anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes is a cause of glucocorticoid-remediable aldosteronism (GRA) [MIM:103900].

Sequence similarities

Belongs to the cytochrome P450 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 2424Mitochondrion
Chain25 – 503479Cytochrome P450 11B1, mitochondrial
PRO_0000003596

Sites

Metal binding4501Iron (heme axial ligand) By similarity

Natural variations

Natural variant101C → Y: dbSNP rs6405. Ref.13
VAR_014145
Natural variant421P → S in AH4; non-classic. Ref.11
VAR_001260
Natural variant431R → Q: dbSNP rs4534. Ref.13 Ref.2 Ref.15
VAR_014146
Natural variant631D → H: dbSNP rs5282.
VAR_014638
Natural variant1331N → H in AH4; non-classic. Ref.11
VAR_001261
Natural variant1601M → I: dbSNP rs5287. Ref.15
VAR_014147
Natural variant1731K → R: dbSNP rs4539.
VAR_014639
Natural variant2481T → I: dbSNP rs34620645.
VAR_048462
Natural variant2571F → L: dbSNP rs5288.
VAR_014640
Natural variant2811S → N: dbSNP rs5291.
VAR_014641
Natural variant2931L → V: dbSNP rs5292. Ref.15
VAR_014148
Natural variant3181T → M in AH4.
VAR_001262
Natural variant3191T → M in AH4; non-classic. Ref.11
VAR_001263
Natural variant3481A → T: dbSNP rs6407. Ref.13
VAR_014149
Natural variant3741R → Q in AH4.
VAR_001264
Natural variant3861A → V: dbSNP rs4541. Ref.13 Ref.2 Ref.8
VAR_014150
Natural variant4041R → H: dbSNP rs4998896.
VAR_048463
Natural variant4391Y → H: dbSNP rs5294.
VAR_014642
Natural variant4481R → H in AH4. Ref.10
VAR_001265
Natural variant4941F → C Ref.1 Ref.12
VAR_008687

Sequences

Sequence LengthMass (Da)Tools
P15538-1 [UniParc].

Last modified November 25, 2008. Version 5.
Checksum: 0B36D82513960EE9

FASTA50357,573
        10         20         30         40         50         60 
MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL RLLQIWREQG 

        70         80         90        100        110        120 
YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL QQVDSLHPHR MSLEPWVAYR 

       130        140        150        160        170        180 
QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA 

       190        200        210        220        230        240 
RGSLTLDVQP SIFHYTIEAS NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM 

       250        260        270        280        290        300 
PRSLSRWTSP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS 

       310        320        330        340        350        360 
PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS ISEHPQKATT 

       370        380        390        400        410        420 
ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG TLVRVFLYSL GRNPALFPRP 

       430        440        450        460        470        480 
ERYNPQRWLD IRGSGRNFYH VPFGFGMRQC LGRRLAEAEM LLLLHHVLKH LQVETLTQED 

       490        500 
IKMVYSFILR PSMFPLLTFR AIN 

« Hide

References

« Hide 'large scale' references
[1]"Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta)."
Mornet E., Dupont J., Vitek A., White P.C.
J. Biol. Chem. 264:20961-20967(1989) [PubMed: 2592361] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT CYS-494.
[2]"Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta."
Kawamoto T., Mitsuuchi Y., Toda K., Miyahara K., Yokoyama Y., Nakao K., Hosoda K., Yamamoto Y., Imura H., Shizuta Y.
FEBS Lett. 269:345-349(1990) [PubMed: 2401360] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, VARIANTS GLN-43 AND VAL-386.
[3]NHLBI resequencing and genotyping service (RS&G)
Submitted (DEC-2007) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed: 16421571] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[7]"A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency."
Naiki Y., Kawamoto T., Mitsuuchi Y., Miyahara K., Toda K., Orii T., Imura H., Shizuta Y.
J. Clin. Endocrinol. Metab. 77:1677-1682(1993) [PubMed: 7903314] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-132.
Tissue: Peripheral blood.
[8]"Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)."
Chua S.C., Szabo P., Vitek A., Grzeschik K.H., John M., White P.C.
Proc. Natl. Acad. Sci. U.S.A. 84:7193-7197(1987) [PubMed: 3499608] [Abstract]
Cited for: PRELIMINARY NUCLEOTIDE SEQUENCE [MRNA] OF 216-466, VARIANT VAL-386.
[9]"Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans."
Kawamoto T., Mitsuuchi Y., Toda K., Yokoyama Y., Miyahara K., Miura S., Ohnishi T., Icikawa Y., Nakao K., Imura H., Ulick S., Shuzuta Y.
Proc. Natl. Acad. Sci. U.S.A. 89:1458-1462(1992) [PubMed: 1741400] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-30.
[10]"A mutation in CYP11B1 (Arg-448-->His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin."
White P.C., Dupont J., New M.I., Leiberman E., Hochberg Z., Roesler A.
J. Clin. Invest. 87:1664-1667(1991) [PubMed: 2022736] [Abstract]
Cited for: VARIANT AH4 HIS-448.
[11]"CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency."
Joehrer K., Geley S., Strasser-Wozak E.M.C., Azziz R., Wollmann H.A., Schmitt K., Kofler R., White P.C.
Hum. Mol. Genet. 6:1829-1834(1997) [PubMed: 9302260] [Abstract]
Cited for: VARIANTS AH4 SER-42; HIS-133 AND MET-319.
[12]"The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population."
Loidi L., Quinteiro C., Barros F., Dominguez F., Barreiro J., Pombo M.
J. Clin. Endocrinol. Metab. 84:4749-4749(1999) [PubMed: 10599751] [Abstract]
Cited for: VARIANT CYS-494.
[13]"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.
Nat. Genet. 22:231-238(1999) [PubMed: 10391209] [Abstract]
Cited for: VARIANTS TYR-10; GLN-43; THR-348 AND VAL-386.
[14]Erratum
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.
Nat. Genet. 23:373-373(1999)
[15]"Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis."
Halushka M.K., Fan J.-B., Bentley K., Hsie L., Shen N., Weder A., Cooper R., Lipshutz R., Chakravarti A.
Nat. Genet. 22:239-247(1999) [PubMed: 10391210] [Abstract]
Cited for: VARIANTS GLN-43; ILE-160 AND VAL-293.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

M32879, M32863, M32878 Genomic DNA. Translation: AAA52149.1.
X55764 mRNA. Translation: CAA39290.1.
D16153 Genomic DNA. Translation: BAB71992.1.
D16155 Genomic DNA. Translation: BAA03717.1.
EU332839 Genomic DNA. Translation: ABY87528.1.
AC083841 Genomic DNA. No translation available.
CH471162 Genomic DNA. Translation: EAW82293.1.
BC096287 mRNA. Translation: AAH96287.1.
M24667 mRNA. Translation: AAA52148.1. Sequence problems.
D10169 Genomic DNA. Translation: BAA01039.1.
IPIIPI00291348.
PIRS11338.
RefSeqNP_000488.3.
UniGeneHs.184927

3D structure databases

HSSPHSSP built from PDB template 1SCC based on UniProtKB P00189.
ModBaseSearch...

Proteomic databases

PRIDEP15538.

Genome annotation databases

EnsemblENSG00000160882. Homo sapiens. [Contig view]
GeneID1584.
KEGGhsa:1584.

Organism-specific databases

GeneCardsGC08M143950.
HGNCHGNC:2591. CYP11B1.
MIM103900. phenotype.
202010. phenotype.
610613. gene.
Orphanet418. Congenital adrenal hyperplasia.
85142. Conn's syndrome.
403. Hyperaldosteronism, familial, type 1.
404. Hyperaldosteronism, familial, type 2.
427. Hypoaldosteronism, familial.
PharmGKBPA133.
GenAtlasSearch...

Phylogenomic databases

HOVERGENP15538.

Enzyme and pathway databases

BRENDA1.14.15.4. 247.
ReactomeREACT_13433. Biological oxidations.
REACT_602. Lipid and lipoprotein metabolism.

Gene expression databases

ArrayExpressP15538.
BgeeP15538.
CleanExHS_CYP11B1.
GermOnlineENSG00000160882. Homo sapiens.

Family and domain databases

InterProIPR001128. Cyt_P450.
IPR017973. Cyt_P450_C.
IPR017972. Cyt_P450_CS.
IPR002399. Cyt_P450_mit_N.
[Graphical view]
Gene3DG3DSA:1.10.630.10. Cyt_P450. 1 hit.
PANTHERPTHR19383. Cyt_P450. 1 hit.
PfamPF00067. p450. 1 hit.
[Graphical view]
PRINTSPR00408. MITP450.
PR00385. P450.
PROSITEPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

DrugBankDB00648. Mitotane.
SOURCESearch...

Entry information

Entry nameC11B1_HUMAN
AccessionPrimary (citable) accession number: P15538
Secondary accession number(s): Q14095, Q4VAQ8, Q9UML2
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: November 25, 2008
Last modified: June 16, 2009
This is version 110 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents