Cytochrome P450 11B1, mitochondrial precursor

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Reviewed, UniProtKB/Swiss-Prot P15538 (C11B1_HUMAN)

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

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

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Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	503 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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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.

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Ontologies

Keywords
Biological process	Lipid metabolism Steroid metabolism Steroidogenesis
Cellular component	Membrane Mitochondrion
Coding sequence diversity	Polymorphism
Disease	Congenital adrenal hyperplasia Disease mutation
Domain	Transit peptide
Ligand	Heme Iron Metal-binding
Molecular function	Monooxygenase Oxidoreductase
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	aldosterone biosynthetic process Inferred from direct assay. Source: UniProtKB cortisol biosynthetic process Ref.10 Inferred from direct assay. Source: UniProtKB glucose homeostasis Traceable author statement. Source: UniProtKB immune response Traceable author statement. Source: UniProtKB oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW regulation of blood pressure Ref.10 Inferred from mutant phenotype. Source: UniProtKB response to stress Traceable author statement. Source: UniProtKB
Cellular component	mitochondrial inner membrane Traceable author statement. Source: UniProtKB
Molecular function	electron carrier activity Inferred from electronic annotation. Source: InterPro heme binding Inferred by curator. Source: UniProtKB steroid 11-beta-monooxygenase activity Ref.10 Inferred from direct assay. Source: UniProtKB steroid binding Inferred by curator. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Transit peptide

1 – 24

Mitochondrion

Chain

25 – 503

479

Cytochrome P450 11B1, mitochondrial

PRO_0000003596

Sites

Metal binding

450

Iron (heme axial ligand) By similarity

Natural variations

Natural variant

C → Y: dbSNP rs6405. Ref.13

VAR_014145

Natural variant

P → S in AH4; non-classic. Ref.11

VAR_001260

Natural variant

R → Q: dbSNP rs4534. Ref.13 Ref.2 Ref.15

VAR_014146

Natural variant

D → H: dbSNP rs5282.

VAR_014638

Natural variant

133

N → H in AH4; non-classic. Ref.11

VAR_001261

Natural variant

160

M → I: dbSNP rs5287. Ref.15

VAR_014147

Natural variant

173

K → R: dbSNP rs4539.

VAR_014639

Natural variant

248

T → I: dbSNP rs34620645.

VAR_048462

Natural variant

257

F → L: dbSNP rs5288.

VAR_014640

Natural variant

281

S → N: dbSNP rs5291.

VAR_014641

Natural variant

293

L → V: dbSNP rs5292. Ref.15

VAR_014148

Natural variant

318

T → M in AH4.

VAR_001262

Natural variant

319

T → M in AH4; non-classic. Ref.11

VAR_001263

Natural variant

348

A → T: dbSNP rs6407. Ref.13

VAR_014149

Natural variant

374

R → Q in AH4.

VAR_001264

Natural variant

386

A → V: dbSNP rs4541. Ref.13 Ref.2 Ref.8

VAR_014150

Natural variant

404

R → H: dbSNP rs4998896.

VAR_048463

Natural variant

439

Y → H: dbSNP rs5294.

VAR_014642

Natural variant

448

R → H in AH4. Ref.10

VAR_001265

Natural variant

494

F → C Ref.1 Ref.12

VAR_008687

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Sequences

Sequence

Length

Mass (Da)

Tools

P15538-1 [UniParc].

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

503

57,573

        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

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References

	« Hide 'large scale' referencesShow '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. 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. 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.

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Web resources

GeneReviews

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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.
IPI	IPI00291348.
PIR	S11338.
RefSeq	NP_000488.3.
UniGene	Hs.184927
3D structure databases
HSSP	HSSP built from PDB template 1SCC based on UniProtKB P00189.
ModBase	Search...
Proteomic databases
PRIDE	P15538.
Genome annotation databases
Ensembl	ENSG00000160882. Homo sapiens. [Contig view]
GeneID	1584.
KEGG	hsa:1584.
Organism-specific databases
GeneCards	GC08M143950.
HGNC	HGNC:2591. CYP11B1.
MIM	103900. phenotype. 202010. phenotype. 610613. gene.
Orphanet	418. Congenital adrenal hyperplasia. 85142. Conn's syndrome. 403. Hyperaldosteronism, familial, type 1. 404. Hyperaldosteronism, familial, type 2. 427. Hypoaldosteronism, familial.
PharmGKB	PA133.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P15538.
Enzyme and pathway databases
BRENDA	1.14.15.4. 247.
Reactome	REACT_13433. Biological oxidations. REACT_602. Lipid and lipoprotein metabolism.
Gene expression databases
ArrayExpress	P15538.
Bgee	P15538.
CleanEx	HS_CYP11B1.
GermOnline	ENSG00000160882. Homo sapiens.
Family and domain databases
InterPro	IPR001128. Cyt_P450. IPR017973. Cyt_P450_C. IPR017972. Cyt_P450_CS. IPR002399. Cyt_P450_mit_N. [Graphical view]
Gene3D	G3DSA:1.10.630.10. Cyt_P450. 1 hit.
PANTHER	PTHR19383. Cyt_P450. 1 hit.
Pfam	PF00067. p450. 1 hit. [Graphical view]
PRINTS	PR00408. MITP450. PR00385. P450.
PROSITE	PS00086. CYTOCHROME_P450. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00648. Mitotane.
SOURCE	Search...

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Entry information

Entry name

C11B1_HUMAN

Accession

Primary (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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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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)

Molecule processing

Sites

Natural variations

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents