Cytochrome P450 11B1, mitochondrial precursor

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Reviewed, UniProtKB/Swiss-Prot P15538 (C11B1_HUMAN)

Last modified July 22, 2008. Version 99. 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
    EC=1.14.15.4
Alternative name(s):
    CYPXIB1
    P-450c11
      Short name=P450C11
    Steroid 11-beta-hydroxylase

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 + O(2) = an 11-beta-hydroxysteroid + oxidized adrenal ferredoxin + H(2)O.
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. 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	steroid biosynthetic process Ref.1 Traceable author statement. Source: ProtInc
Molecular function	steroid 11-beta-monooxygenase activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Molecule processing

Transit peptide

1 – 24

Mitochondrion

Chain

25 – 503

479

Cytochrome P450 11B1, mitochondrial

Sites

Metal binding

450

Iron (heme axial ligand) By similarity

Natural variations

Natural variant

C → Y: dbSNP rs6405.

Natural variant

P → S in AH4; non-classic.

Natural variant

Q → R: dbSNP rs4534.

Natural variant

D → H: dbSNP rs5282.

Natural variant

133

N → H in AH4; non-classic.

Natural variant

160

M → I: dbSNP rs5287.

Natural variant

173

K → R: dbSNP rs4539.

Natural variant

257

F → L: dbSNP rs5288.

Natural variant

281

S → N: dbSNP rs5291.

Natural variant

293

L → V: dbSNP rs5292.

Natural variant

318

T → M in AH4.

Natural variant

319

T → M in AH4; non-classic.

Natural variant

348

A → T: dbSNP rs6407.

Natural variant

374

R → Q in AH4.

Natural variant

386

V → A: dbSNP rs4541.

Natural variant

439

Y → H: dbSNP rs5294.

Natural variant

448

R → H in AH4.

Natural variant

494

C → F

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Sequences

Sequence

Length

Mass (Da)

Tools

P15538-1 [UniParc].

Last modified September 26, 2001. Version 4.
Checksum: 36FF57802115BB9C
Show »

FASTA

503

57,529

        10         20         30         40         50         60 
MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPQRPGNRWL 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 FLERVVSSDL VLQNYHIPAG TLVRVFLYSL GRNPALFPRP 

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

       490        500 
IKMVYSFILR PSMCPLLTFR AIN

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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, VARIANTS ARG-43 AND ALA-386.
[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.
[3]	"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.
[4]	"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.
[5]	"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 OF 1-30.
[6]	"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.
[7]	"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.
[8]	"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 PHE-494.
[9]	"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; ARG-43; THR-348 AND ALA-386.
[10]	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)
[11]	"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 ARG-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. M24667 mRNA. Translation: AAA52148.1. Sequence problems. D10169 Genomic DNA. Translation: BAA01039.1.
PIR	S11338.
UniGene	Hs.184927
3D structure databases
HSSP	HSSP built from PDB template 1SCC based on UniProtKB P00189.
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000160882. Homo sapiens. [Contig view]
Organism-specific databases
HGNC	HGNC:2591. CYP11B1.
MIM	103900. phenotype. 202010. phenotype. 610613. gene.
Orphanet	418. Adrenal hyperplasia, congenital. 85142. Conn's syndrome. 403. Hyperaldosteronism, familial, type 1.
PharmGKB	PA133.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	P15538.
Enzyme and pathway databases
Reactome	REACT_602. Lipid and lipoprotein metabolism.
Gene expression databases
ArrayExpress	P15538.
CleanEx	HS_CYP11B1.
GermOnline	ENSG00000160882. Homo sapiens.
Family and domain databases
InterPro	IPR001128. Cyt_P450. IPR002399. Cyt_P450_mit. [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]
ProDom	P15538. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
DrugBank	DB00648. Mitotane.
SOURCE	Search...
ProtoNet	Search...

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Entry information

Entry name

C11B1_HUMAN

Accession

Primary (citable) accession number: P15538
Secondary accession number(s): Q14095, Q9UML2

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	September 26, 2001
Last modified:	July 22, 2008
This is version 99 of the entry and version 4 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

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Sequence annotation (Features)

Molecule processing

Sites

Natural variations

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure 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