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Literature summary for 1.1.1.205 extracted from
- Autosomal dominant retinitis pigmentosa mutations in inosine 5-monophosphate dehydrogenase type I disrupt nucleic acid binding (2005), Biochem. J., 390, 41-47.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| expression of wild-type and mutant IMPDH1s in enzyme-deficient Escherichia coli strain H712 and in HeLa cells, in the latter as GFP-fusion proteins | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| A285T | site-directed mutagenesis of IMPDH1, similar activity and protein stability compared to the wild-type enzyme | Homo sapiens |
| D226N | naturally occuring mutation causing autosomal dominant retinitis pigmentosa, site-directed mutagenesis of IMPDH1, similar activity and protein stability compared to the wild-type enzyme | Homo sapiens |
| R224P | naturally occuring mutation causing autosomal dominant retinitis pigmentosa, site-directed mutagenesis of IMPDH1, the mutant shows altered subcellular localization compared to the wild-type enzyme, similar activity and protein stability compared to the wild-type enzyme | Homo sapiens |
| V268I | site-directed mutagenesis of IMPDH1, pathogenic mutation, the mutant shows altered subcellular localization compared to the wild-type enzyme, similar activity and protein stability compared to the wild-type enzyme | Homo sapiens |
Inhibitors
| Inhibitors | Comment | Organism | Structure |
|---|---|---|---|
| NAD+ | - |
Homo sapiens |  |
KM Value [mM]
| KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|
| additional information | - |
additional information | ssDNA binding kinetics of wild-type and mutant IMPDH1s | Homo sapiens | |
| 0.007 | - |
inosine 5'-phosphate | pH 8.0, 37°C, recombinant mutant R224P | Homo sapiens | |
| 0.011 | - |
inosine 5'-phosphate | pH 8.0, 37°C, recombinant mutant V268I | Homo sapiens | |
| 0.012 | - |
inosine 5'-phosphate | pH 8.0, 37°C, recombinant mutant D226N | Homo sapiens | |
| 0.017 | - |
inosine 5'-phosphate | pH 8.0, 37°C, recombinant wild-type enzyme | Homo sapiens | |
| 0.046 | - |
NAD+ | pH 8.0, 37°C, recombinant mutant V268I | Homo sapiens | |
| 0.05 | - |
NAD+ | pH 8.0, 37°C, recombinant mutant D226N | Homo sapiens | |
| 0.056 | - |
NAD+ | pH 8.0, 37°C, recombinant mutant R224P | Homo sapiens | |
| 0.07 | - |
NAD+ | pH 8.0, 37°C, recombinant wild-type enzyme | Homo sapiens | |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| cytoplasm | - |
Homo sapiens | 5737 | - |
| nucleus | - |
Homo sapiens | 5634 | - |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| inosine 5'-phosphate + NAD+ + H2O | Homo sapiens | the enzyme performs the rate-limiting step in guanine nucleotide biosynthesis | xanthosine 5'-phosphate + NADH | - |
? | |
| additional information | Homo sapiens | enzyme mutations are involved in autosomal dominant retinitis pigmentosa, pathological mechanism, overview | ? | - |
? | |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | P20839 | type I isozyme | - |
Purification (Commentary)
| Purification (Comment) | Organism |
|---|---|
| recombinant wild-type and mutant IMPDH1s from Escherichia coli strain H712 by two steps of affinity chromatography, and gel filtration, to over 95% purity | Homo sapiens |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| inosine 5'-phosphate + NAD+ + H2O | - |
Homo sapiens | xanthosine 5'-phosphate + NADH | - |
? | |
| inosine 5'-phosphate + NAD+ + H2O | the enzyme performs the rate-limiting step in guanine nucleotide biosynthesis | Homo sapiens | xanthosine 5'-phosphate + NADH | - |
? | |
| additional information | enzyme mutations are involved in autosomal dominant retinitis pigmentosa, pathological mechanism, overview | Homo sapiens | ? | - |
? | |
| additional information | ssDNA and RNA binding of wild-type and mutant IMPDH1s | Homo sapiens | ? | - |
? | |
Subunits
| Subunits | Comment | Organism |
|---|---|---|
| tetramer | - |
Homo sapiens |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| IMPDH1 | - |
Homo sapiens |
| inosine 5-monophosphate dehydrogenase type I | - |
Homo sapiens |
Temperature Optimum [°C]
| Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
|---|---|---|---|
| 37 | - |
assay at | Homo sapiens |
Turnover Number [1/s]
| Turnover Number Minimum [1/s] | Turnover Number Maximum [1/s] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|
| 0.7 | - |
NAD+ | pH 8.0, 37°C, recombinant mutant D226N | Homo sapiens | |
| 0.8 | - |
NAD+ | pH 8.0, 37°C, recombinant mutant V268I | Homo sapiens | |
| 0.9 | - |
NAD+ | pH 8.0, 37°C, recombinant mutant A285T | Homo sapiens | |
| 1.2 | - |
NAD+ | pH 8.0, 37°C, recombinant wild-type enzyme | Homo sapiens | |
| 1.3 | - |
NAD+ | pH 8.0, 37°C, recombinant mutant R224P | Homo sapiens | |
pH Optimum
| pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
|---|---|---|---|
| 8 | - |
assay at | Homo sapiens |
Cofactor
| Cofactor | Comment | Organism | Structure |
|---|---|---|---|
| NAD+ | - |
Homo sapiens | |
Ki Value [mM]
| Ki Value [mM] | Ki Value maximum [mM] | Inhibitor | Comment | Organism | Structure |
|---|---|---|---|---|---|
| 1 | - |
NAD+ | pH 8.0, 37°C, recombinant mutant R224P | Homo sapiens | |
| 2 | - |
NAD+ | pH 8.0, 37°C, recombinant wild-type enzyme | Homo sapiens | |
| 4 | - |
NAD+ | pH 8.0, 37°C, recombinant mutants D226N and V268I | Homo sapiens | |
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