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Literature summary for 1.14.15.4 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)

Cloned (Comment) Organism
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

Protein Variants Comment Organism
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

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

Natural Substrates/ Products (Substrates)

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

Organism

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

Source Tissue

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

Specific Activity [micromol/min/mg]

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

Substrates and Products (Substrate)

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

Synonyms

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

Temperature Optimum [°C]

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

pH Optimum

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

Cofactor

Cofactor Comment Organism Structure
reduced adrenal ferredoxin
-
Homo sapiens