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Literature summary extracted from
- Research Resource Correlating human cytochrome P450 21A2 crystal structure and phenotypes of mutations in congenital adrenal hyperplasia (2015), Mol. Endocrinol., 29, 1375-1384 .
Application
| EC Number | Application | Comment | Organism |
|---|---|---|---|
| 1.14.14.16 | 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)
| EC Number | Crystallization (Comment) | Organism |
|---|---|---|
| 1.14.14.16 | modeling of mutant structures connected with congenital adrenal hyperplasia | Homo sapiens |
Protein Variants
| EC Number | Protein Variants | Comment | Organism |
|---|---|---|---|
| 1.14.14.16 | G65E | 0.08% of wild-type activity with substrate progesterone | Homo sapiens |
| 1.14.14.16 | T296N | 0.05% of wild-type activity with substrate progesterone | Homo sapiens |
KM Value [mM]
| EC Number | KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|---|
| 1.14.14.16 | 0.00021 | - |
progesterone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens |  |
| 1.14.14.16 | 0.00046 | - |
17alpha-hydroxyprogesterone | mutant T296N, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 0.0011 | - |
progesterone | mutant T296N, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 0.0015 | - |
17alpha-hydroxyprogesterone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 0.0055 | - |
progesterone | mutant G65E, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 0.013 | - |
17alpha-hydroxyprogesterone | mutant G65E, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
Organism
| EC Number | Organism | UniProt | Comment | Textmining |
|---|---|---|---|---|
| 1.14.14.16 | Homo sapiens | P08686 | - |
- |
Source Tissue
| EC Number | Source Tissue | Comment | Organism | Textmining |
|---|
Substrates and Products (Substrate)
| EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 1.14.14.16 | 17alpha-hydroxyprogesterone + NADPH + H+ + O2 | - |
Homo sapiens | 17,21-dihydroxyprogesterone + NADP+ + H2O | - |
? | |
| 1.14.14.16 | progesterone + NADPH + H+ + O2 | - |
Homo sapiens | 11-deoxycorticosterone + NADP+ + H2O | - |
? | |
Turnover Number [1/s]
| EC Number | Turnover Number Minimum [1/s] | Turnover Number Maximum [1/s] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|---|
| 1.14.14.16 | 0.0077 | - |
progesterone | mutant T296N, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 0.032 | - |
17alpha-hydroxyprogesterone | mutant G65E, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 0.045 | - |
17alpha-hydroxyprogesterone | mutant T296N, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 0.062 | - |
progesterone | mutant G65E, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 2.8 | - |
progesterone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 4 | - |
17alpha-hydroxyprogesterone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
kcat/KM [mM/s]
| EC Number | kcat/KM Value [1/mMs-1] | kcat/KM Value Maximum [1/mMs-1] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|---|
| 1.14.14.16 | 2.3 | - |
17alpha-hydroxyprogesterone | mutant G65E, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 7 | - |
progesterone | mutant T296N, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 11.2 | - |
progesterone | mutant G65E, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 100 | - |
17alpha-hydroxyprogesterone | mutant T296N, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 2667 | - |
17alpha-hydroxyprogesterone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.14.14.16 | 13333 | - |
progesterone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
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Release 2023.1 (January 2023)
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