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Literature summary for 4.2.1.75 extracted from
- Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability (2009), Biochemistry, 48, 454-461.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| DNA and amino acid sequence determination and analysis, expression of wild-type and mutant enzymes | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| A104V | a naturally occuring mutation, 60.6% activity compared to the wild-type enzyme | Homo sapiens |
| A66V | a naturally occuring mutation, 95.6% activity compared to the wild-type enzyme | Homo sapiens |
| A69T | a naturally occuring mutation, 24.4% activity compared to the wild-type enzyme | Homo sapiens |
| C73R | a frequent, naturally occuring mutation of a residue of the stabilizing helical region, 14.5% activity compared to the wild-type enzyme | Homo sapiens |
| E81D | a naturally occuring mutation, unaltered activity compared to the wild-type enzyme | Homo sapiens |
| G188R | a naturally occuring mutation, 41.4% activity compared to the wild-type enzyme | Homo sapiens |
| G188W | a naturally occuring mutation, 31.6% activity compared to the wild-type enzyme | Homo sapiens |
| G225S | a naturally occuring mutation, 32.4% activity compared to the wild-type enzyme | Homo sapiens |
| G236V | a naturally occuring mutation, 34.0% activity compared to the wild-type enzyme | Homo sapiens |
| H173Y | a naturally occuring mutation, 72.6% activity compared to the wild-type enzyme | Homo sapiens |
| I129T | a naturally occuring mutation, 20.0% activity compared to the wild-type enzyme | Homo sapiens |
| I219S | a naturally occuring mutation, 85.0% activity compared to the wild-type enzyme | Homo sapiens |
| L237P | a naturally occuring mutation, 57.9% activity compared to the wild-type enzyme | Homo sapiens |
| L4F | a naturally occuring mutation, 20.2% activity compared to the wild-type enzyme | Homo sapiens |
| additional information | changes in the unfolding rate, relative to wild type, overview. Cloning, expression, and analysis of 25 missense mutants from congenital erythropoietic porphyria, CEP, patients, genotyping, overview | Homo sapiens |
| P248Q | a naturally occuring mutation, 29.2% activity compared to the wild-type enzyme | Homo sapiens |
| P53L | a naturally occuring mutation, inactive mutant, no purification of the recombinant mutant | Homo sapiens |
| Q187P | a naturally occuring mutation, 15.0% activity compared to the wild-type enzyme | Homo sapiens |
| S212P | a naturally occuring mutation, 20.0% activity compared to the wild-type enzyme | Homo sapiens |
| S47P | a naturally occuring mutation, unaltered activity compared to the wild-type enzyme | Homo sapiens |
| T228M | a naturally occuring mutation, 97.5% activity compared to the wild-type enzyme | Homo sapiens |
| T62A | a naturally occuring mutation, 1.2% activity compared to the wild-type enzyme | Homo sapiens |
| V3F | a naturally occuring mutation, 19.3% activity compared to the wild-type enzyme | Homo sapiens |
| V82F | a naturally occuring mutation, 93.8% activity compared to the wild-type enzyme | Homo sapiens |
| V99A | a naturally occuring mutation, 88.2% activity compared to the wild-type enzyme | Homo sapiens |
| Y19C | a naturally occuring mutation, 13.1% activity compared to the wild-type enzyme | Homo sapiens |
General Stability
| General Stability | Organism |
|---|---|
| a helical region in the molecule is essential to retain the kinetic stability of the folded conformation | Homo sapiens |
KM Value [mM]
| KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|
| additional information | - |
additional information | enzyme kinetics in relation to enzyme stability of wild-type and mutant enzymes, wild-type UROIIIS Is a kinetically stable protein, overview | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | P10746 | - |
- |
Subunits
| Subunits | Comment | Organism |
|---|---|---|
| More | a helical region in the molecule is essential to retain the kinetic stability of the folded conformation | Homo sapiens |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| UROIIIS | - |
Homo sapiens |
| Uroporphyrinogen III synthase | - |
Homo sapiens |
Temperature Optimum [°C]
| Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
|---|---|---|---|
| 37 | - |
assay at | Homo sapiens |
Temperature Range [°C]
| Temperature Minimum [°C] | Temperature Maximum [°C] | Comment | Organism |
|---|---|---|---|
| 37 | 52 | the isothermal unfolding rate is determined in the range of 37°C-52°C | Homo sapiens |
Temperature Stability [°C]
| Temperature Stability Minimum [°C] | Temperature Stability Maximum [°C] | Comment | Organism |
|---|---|---|---|
| additional information | - |
UROIIIS is a thermolabile enzyme undergoing irreversible denaturation, unfolding kinetics of wild-type UROIIIS and mutants, circular dichroism, overview. A helical region in the molecule is essential to retain the kinetic stability of the folded conformation | Homo sapiens |
pH Optimum
| pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
|---|---|---|---|
| 8 | - |
assay at | Homo sapiens |
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Release 2023.1 (January 2023)
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