Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.14.14.16 extracted from

  • Pallan, P.S.; Lei, L.; Wang, C.; Waterman, M.R.; Guengerich, F.P.; Egli, M.
    Research Resource Correlating human cytochrome P450 21A2 crystal structure and phenotypes of mutations in congenital adrenal hyperplasia (2015), Mol. Endocrinol., 29, 1375-1384 .
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine localization of mutations leading to congenital adrenal hyperplasia within the protein. The severity of the congenital adrenal hyperplasia clinical manifestations can be directly correlated with the degree of mutation-induced damage in terms of protein fold stability and active site changes in the structural model. The nonclassical phenotype is typically associated with mutations that have a compensatory effect, i.e. H-bonding replacing hydrophobic interactions and vice versa Homo sapiens

Crystallization (Commentary)

Crystallization (Comment) Organism
modeling of mutant structures connected with congenital adrenal hyperplasia Homo sapiens

Protein Variants

Protein Variants Comment Organism
G65E 0.08% of wild-type activity with substrate progesterone Homo sapiens
T296N 0.05% of wild-type activity with substrate progesterone Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.00021
-
progesterone wild-type, pH not specified in the publication, temperature not specified in the publication Homo sapiens
0.00046
-
17alpha-hydroxyprogesterone mutant T296N, pH not specified in the publication, temperature not specified in the publication Homo sapiens
0.0011
-
progesterone mutant T296N, pH not specified in the publication, temperature not specified in the publication Homo sapiens
0.0015
-
17alpha-hydroxyprogesterone wild-type, pH not specified in the publication, temperature not specified in the publication Homo sapiens
0.0055
-
progesterone mutant G65E, pH not specified in the publication, temperature not specified in the publication Homo sapiens
0.013
-
17alpha-hydroxyprogesterone mutant G65E, pH not specified in the publication, temperature not specified in the publication Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P08686
-
-

Source Tissue

Source Tissue Comment Organism Textmining

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
17alpha-hydroxyprogesterone + NADPH + H+ + O2
-
Homo sapiens 17,21-dihydroxyprogesterone + NADP+ + H2O
-
?
progesterone + NADPH + H+ + O2
-
Homo sapiens 11-deoxycorticosterone + NADP+ + H2O
-
?

Turnover Number [1/s]

Turnover Number Minimum [1/s] Turnover Number Maximum [1/s] Substrate Comment Organism Structure
0.0077
-
progesterone mutant T296N, pH not specified in the publication, temperature not specified in the publication Homo sapiens
0.032
-
17alpha-hydroxyprogesterone mutant G65E, pH not specified in the publication, temperature not specified in the publication Homo sapiens
0.045
-
17alpha-hydroxyprogesterone mutant T296N, pH not specified in the publication, temperature not specified in the publication Homo sapiens
0.062
-
progesterone mutant G65E, pH not specified in the publication, temperature not specified in the publication Homo sapiens
2.8
-
progesterone wild-type, pH not specified in the publication, temperature not specified in the publication Homo sapiens
4
-
17alpha-hydroxyprogesterone wild-type, pH not specified in the publication, temperature not specified in the publication Homo sapiens

kcat/KM [mM/s]

kcat/KM Value [1/mMs-1] kcat/KM Value Maximum [1/mMs-1] Substrate Comment Organism Structure
2.3
-
17alpha-hydroxyprogesterone mutant G65E, pH not specified in the publication, temperature not specified in the publication Homo sapiens
7
-
progesterone mutant T296N, pH not specified in the publication, temperature not specified in the publication Homo sapiens
11.2
-
progesterone mutant G65E, pH not specified in the publication, temperature not specified in the publication Homo sapiens
100
-
17alpha-hydroxyprogesterone mutant T296N, pH not specified in the publication, temperature not specified in the publication Homo sapiens
2667
-
17alpha-hydroxyprogesterone wild-type, pH not specified in the publication, temperature not specified in the publication Homo sapiens
13333
-
progesterone wild-type, pH not specified in the publication, temperature not specified in the publication Homo sapiens