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Literature summary extracted from

  • Kuribayashi, I.; Nomoto, S.; Massa, G.; Oostdijk, W.; Wit, J.M.; Wolffenbuttel, B.H.; Shizuta, Y.; Honke, K.
    Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele (2005), Horm. Res., 63, 284-293.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.15.4 genes CYP11B1 and CYP11B2, DNA and amino acid sequence determination and analysis, expression of wild-type and mutant enzymes in COS-7 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.15.4 G314R/Q43R/V386A naturally occuring mutant isolated from a patient with adrenal hyperplasia, gene structure, overview, CYP11B1 deficiency is caused by compound heterozygosity for mutation G314R of one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele, the PSV11 beta2-beta1 chimera dioes not have 18-hydroxylase/oxidase activity, but shows 11beta-hydroxylase activity Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.14.15.4 mitochondrion
-
Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.14.15.4 11-deoxycortisol + reduced adrenal ferredoxin + O2 Homo sapiens
-
cortisol + oxidized adrenal ferredoxin + H2O
-
?
1.14.15.4 18-hydroxycorticosterone + reduced adrenal ferredoxin + O2 Homo sapiens
-
aldosterone + oxidized adrenal ferredoxin + H2O
-
?

Organism

EC Number Organism UniProt Comment Textmining
1.14.15.4 Homo sapiens P15538 cytochrome P450 11B1, mitochondrial precursor
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.14.15.4 adrenal gland
-
Homo sapiens
-
1.14.15.4 zona fasciculata CYP11B1 expression Homo sapiens
-
1.14.15.4 zona reticulata CYP11B1 expression Homo sapiens
-

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
1.14.15.4 additional information
-
-
Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.15.4 11-deoxycortisol + reduced adrenal ferredoxin + O2
-
Homo sapiens cortisol + oxidized adrenal ferredoxin + H2O
-
?
1.14.15.4 18-hydroxycorticosterone + reduced adrenal ferredoxin + O2
-
Homo sapiens aldosterone + oxidized adrenal ferredoxin + H2O
-
?

Synonyms

EC Number Synonyms Comment Organism
1.14.15.4 CYP11B1
-
Homo sapiens
1.14.15.4 CYP11B2
-
Homo sapiens
1.14.15.4 cytochrome P450 11B1
-
Homo sapiens
1.14.15.4 Steroid 11-beta-hydroxylase
-
Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
1.14.15.4 37
-
assay at Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
1.14.15.4 7.4
-
assay at Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.14.15.4 reduced adrenal ferredoxin
-
Homo sapiens