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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]
CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP11B1 include Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency and Hyperaldosteronism, Familial, Type I. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism of steroid hormones. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP11B2.
Hydroxylases are enzymes that catalyze the addition of hydroxyl groups to substrates during oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 1.14.16.4), steroid 11-beta hydroxylase (E.C. 1.14.15.4), and LTB4 omega-hydroxylase (E.C. 1.14.13.30).
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH08J142879 | Promoter | 0.4 | EPDnew | 600.7 | 0.0 | 0 | 0.1 | ATF2 | CYP11B1 NONHSAG051461.2 GML | |
GH08J142864 | Enhancer | 0.6 | Ensembl | 0.4 | +14.3 | 14325 | 1.4 | CREB1 CTCF PRDM10 REST RAD21 ZNF444 SMC3 NFIB ZNF654 ATF2 | GML ENSG00000253728 LY6D ENSG00000253715 ARC LYNX1 ZNHIT1P1 lnc-CYP11B1-2 lnc-THEM6-2 CYP11B1 | |
GH08J142841 | Enhancer | 0.8 | FANTOM5 Ensembl ENCODE | 0.3 | +35.8 | 35845 | 5.6 | FOSL1 CUX1 JUN JUND | GML ENSG00000253715 LY6D LY6H SLURP1 LYNX1 ENSG00000253728 piR-32461-200 CYP11B1 | |
GH08J142838 | Enhancer | 0.7 | Ensembl ENCODE | 0.3 | +41.0 | 41046 | 0.8 | CREB1 ZIC2 ZNF600 BATF HIC1 GLIS1 ZNF398 FOS IKZF1 IKZF2 | GML ENSG00000253715 LY6D SLURP1 LYNX1 ENSG00000253728 piR-32461-200 CYP11B1 | |
GH08J142869 | Enhancer | 0.4 | Ensembl | 0.4 | +8.5 | 8545 | 2.2 | PRDM1 EBF1 FOS | lnc-CYP11B1-2 GML C8orf31 ENSG00000253728 LY6D ENSG00000253715 LYNX1 TOP1MT CYP11B1 ZNHIT1P1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IEA | -- |
GO:0004507 | steroid 11-beta-monooxygenase activity | IBA,IMP | 2022736 |
GO:0005506 | iron ion binding | IEA | -- |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016705 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IDA | 2256920 |
GO:0005743 | mitochondrial inner membrane | IC,TAS | 15026188 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | Metabolism of steroid hormones | ||
3 | Metabolism |
.40
|
|
4 | Aldosterone synthesis and secretion |
.41
|
|
5 | Steroid hormone biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006694 | steroid biosynthetic process | IEA | -- |
GO:0006700 | C21-steroid hormone biosynthetic process | IDA | 2256920 |
GO:0006704 | glucocorticoid biosynthetic process | IBA,TAS | -- |
GO:0006955 | immune response | TAS | 12452430 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Metyrapone | Approved, Investigational | Pharma | Target, Enzyme, inhibitor | 11-beta hydroxylase inhibitor | 14 | |
Mitotane | Approved | Pharma | Target, inducer, binder | 14 | ||
Ketoconazole | Approved, Investigational | Pharma | Pore Blocker, Enzyme, inhibitor | Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor | 194 | |
Spironolactone | Approved | Pharma | Antagonist, Enzyme, inducer | Mineralocorticoid receptor antagonist | 222 | |
Cimetidine | Approved, Investigational | Pharma | Inhibitor, Inhibition, Enzyme, inhibitor | H2 receptor antagonist | 106 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
18-Hydroxycorticosterone |
|
561-65-9 | ||||
11b,17a,21-Trihydroxypreg-nenolone |
|
|
||||
11b-Hydroxyandrost-4-ene-3,17-dione |
|
382-44-5 |
|
|||
11b-Hydroxyprogesterone |
|
600-57-7 |
|
|||
17alpha,21-Dihydroxypregnenolone |
|
1167-48-2 |
|
Compound | Action | Cas Number |
---|---|---|
17-ODYA | LTB omega-hydroxylase inhibitor | 34450-18-5 |
DMOG | Prolyl hydroxylase inhibitor | 89464-63-1 |
Metyrapone | 11-beta hydroxylase inhibitor | 54-36-4 |
p-Chlorophenylalanine | Tryptophan hydroxylase inhibitor | 7424-00-2 |
Compound | Action | Cas Number |
---|---|---|
Ketoconazole | Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase | 65277-42-1 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC464437 30 |
|
||
CYP11B1 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Cyp11b2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cyp11b2 30 17 31 |
|
ManyToMany | |
Cyp11b1 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101731070 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cyp11c1 30 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | dib 31 |
|
ManyToMany | |
Cyp12c1 31 32 |
|
ManyToMany | |||
Cyp12a4 31 |
|
ManyToMany | |||
Cyp12e1 31 |
|
ManyToMany | |||
Cyp12b2 31 |
|
ManyToMany | |||
shd 31 |
|
ManyToMany | |||
Cyp12d1-d 31 |
|
ManyToMany | |||
Cyp12a5 31 |
|
ManyToMany | |||
Cyp12d1-p 31 |
|
ManyToMany | |||
Cyp49a1 31 |
|
ManyToMany | |||
Cyp301a1 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ccp-44 32 |
|
|
|
cyp-44A1 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
1181 | Pathogenic: Deficiency of steroid 11-beta-monooxygenase | 142,874,953(-) | T/C | INTRON_VARIANT | |
1183 | Pathogenic: Deficiency of steroid 11-beta-monooxygenase | 142,877,007(-) | C/A | INTRON_VARIANT | |
646125 | Pathogenic: not provided | 142,874,995(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
663895 | Pathogenic: not provided | 142,875,078(-) | TG/T | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
702316 | Likely Benign: not provided | 142,877,057(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2661137 | CNV | deletion | 23128226 |
esv2673440 | CNV | deletion | 23128226 |
esv2737938 | CNV | deletion | 23290073 |
esv3544372 | CNV | deletion | 23714750 |
esv991235 | CNV | deletion | 20482838 |
nsv436586 | CNV | deletion | 17901297 |
nsv470246 | CNV | loss | 18288195 |
nsv482123 | CNV | gain | 20164927 |
nsv520940 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency |
|
|
hyperaldosteronism, familial, type i |
|
|
lipoid congenital adrenal hyperplasia |
|
|
conn's syndrome |
|
|
adrenal adenoma |
|