Any feedback?
Literature summary extracted from
- Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria (2014), Hum. Mol. Genet., 23, 5805-5813.
Cloned(Commentary)
| EC Number | Cloned (Comment) | Organism |
|---|---|---|
| 4.2.1.75 | expressed in Escherichia coli C41(DE3) cells | Homo sapiens |
Protein Variants
| EC Number | Protein Variants | Comment | Organism |
|---|---|---|---|
| 4.2.1.75 | C73R | the substitution drastically reduces the enzyme activity (1500fold) and stability compared to the wild type enzyme | Homo sapiens |
| 4.2.1.75 | C73R/A69E | the mutant shows reduced activity compared to the wild type enzyme | Homo sapiens |
| 4.2.1.75 | C73R/L43D | the mutant shows slightly increased activity compared to the wild type enzyme | Homo sapiens |
KM Value [mM]
| EC Number | KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|---|
| 4.2.1.75 | 0.05 | - |
Hydroxymethylbilane | mutant enzyme C73R/A69E, pH and temperature not specified in the publication | Homo sapiens |  |
| 4.2.1.75 | 0.06 | - |
Hydroxymethylbilane | wild type enzyme, pH and temperature not specified in the publication | Homo sapiens | |
| 4.2.1.75 | 0.07 | - |
Hydroxymethylbilane | mutant enzyme C73R/L43D, pH and temperature not specified in the publication | Homo sapiens | |
| 4.2.1.75 | 10 | - |
Hydroxymethylbilane | Km above 10 mM, mutant enzyme C73R, pH and temperature not specified in the publication | Homo sapiens | |
Localization
| EC Number | Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|
Molecular Weight [Da]
| EC Number | Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
|---|---|---|---|---|
| 4.2.1.75 | 37000 | - |
x * 37000, SDS-PAGE | Homo sapiens |
Natural Substrates/ Products (Substrates)
| EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 4.2.1.75 | hydroxymethylbilane | Homo sapiens | - |
uroporphyrinogen III + H2O | - |
? | |
Organism
| EC Number | Organism | UniProt | Comment | Textmining |
|---|---|---|---|---|
| 4.2.1.75 | Homo sapiens | P10746 | - |
- |
Purification (Commentary)
| EC Number | Purification (Comment) | Organism |
|---|---|---|
| 4.2.1.75 | Ni-NTA column chromatography and Superdex 75 gel filtration | Homo sapiens |
Source Tissue
| EC Number | Source Tissue | Comment | Organism | Textmining |
|---|
Substrates and Products (Substrate)
| EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 4.2.1.75 | hydroxymethylbilane | - |
Homo sapiens | uroporphyrinogen III + H2O | - |
? | |
Subunits
| EC Number | Subunits | Comment | Organism |
|---|---|---|---|
| 4.2.1.75 | ? | x * 37000, SDS-PAGE | Homo sapiens |
Synonyms
| EC Number | Synonyms | Comment | Organism |
|---|---|---|---|
| 4.2.1.75 | UROIIIS | - |
Homo sapiens |
| 4.2.1.75 | Uroporphyrinogen III synthase | - |
Homo sapiens |
Turnover Number [1/s]
| EC Number | Turnover Number Minimum [1/s] | Turnover Number Maximum [1/s] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|---|
| 4.2.1.75 | 10 | - |
Hydroxymethylbilane | Km above 10 mM, mutant enzyme C73R, pH and temperature not specified in the publication | Homo sapiens | |
| 4.2.1.75 | 170 | - |
Hydroxymethylbilane | mutant enzyme C73R/A69E, pH and temperature not specified in the publication | Homo sapiens | |
| 4.2.1.75 | 890 | - |
Hydroxymethylbilane | wild type enzyme, pH and temperature not specified in the publication | Homo sapiens | |
| 4.2.1.75 | 1200 | - |
Hydroxymethylbilane | mutant enzyme C73R/L43D, pH and temperature not specified in the publication | Homo sapiens | |
General Information
| EC Number | General Information | Comment | Organism |
|---|---|---|---|
| 4.2.1.75 | malfunction | congenital erythropoietic porphyria results from a deficiency in uroporphyrinogen III synthase enzyme activity | 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 |
|---|---|---|---|---|---|---|
| 4.2.1.75 | 1 | - |
Hydroxymethylbilane | kcat/Km less than 1 1/sec*mM, mutant enzyme C73R, pH and temperature not specified in the publication | Homo sapiens | |
| 4.2.1.75 | 3700 | - |
Hydroxymethylbilane | mutant enzyme C73R/A69E, pH and temperature not specified in the publication | Homo sapiens | |
| 4.2.1.75 | 15000 | - |
Hydroxymethylbilane | wild type enzyme, pH and temperature not specified in the publication | Homo sapiens | |
| 4.2.1.75 | 16000 | - |
Hydroxymethylbilane | mutant enzyme C73R/L43D, pH and temperature not specified in the publication | Homo sapiens | |
Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.
Release 2023.1 (January 2023)
Legal
Curated at
Member of
