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Literature summary for 2.5.1.61 extracted from
- Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria (2006), Biochim. Biophys. Acta, 1762, 819-827.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| expression of wild-type and mutant enzymes in SH-SY5Y neuroblastoma cells, expression analysis | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| 887insA | site-directed mutagenesis, the mutant shows reduced expression and subcellular distribution compared to the wild-type enzyme | Homo sapiens |
| G748A | site-directed mutagenesis, the mutant shows reduced expression and subcellular distribution compared to the wild-type enzyme | Homo sapiens |
| G748C | site-directed mutagenesis, the mutant shows reduced expression and subcellular distribution compared to the wild-type enzyme | Homo sapiens |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| cytosol | - |
Homo sapiens | 5829 | - |
| nucleus | - |
Homo sapiens | 5634 | - |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| 4 porphobilinogen + H2O | Homo sapiens | enzyme defects are involved in acute intermittent porphyria, AIP, a neuropathic disease | hydroxymethylbilane + 4 NH3 | - |
? |  |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| brain | - |
Homo sapiens | - |
Specific Activity [micromol/min/mg]
| Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
|---|---|---|---|
| additional information | - |
activity of recombinant wild-type and mutant enzymes in transfected SH-SY5Y neuroblastoma cells, overview | Homo sapiens |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| 4 porphobilinogen + H2O | - |
Homo sapiens | hydroxymethylbilane + 4 NH3 | - |
? | |
| 4 porphobilinogen + H2O | enzyme defects are involved in acute intermittent porphyria, AIP, a neuropathic disease | Homo sapiens | hydroxymethylbilane + 4 NH3 | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| PBGD | - |
Homo sapiens |
| porphobilinogen deaminase | - |
Homo sapiens |
pH Optimum
| pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
|---|---|---|---|
| 8.2 | - |
assay at | Homo sapiens |
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Release 2023.1 (January 2023)
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