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Literature summary extracted from
- Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans (1995), J. Biol. Chem., 270, 29498-29506.
Cloned(Commentary)
| EC Number | Cloned (Comment) | Organism |
|---|---|---|
| 4.2.3.12 | expression in Escherichia coli and COS-1 cells, wild-type enzyme and 4 naturally occurring mutants | Homo sapiens |
Protein Variants
| EC Number | Protein Variants | Comment | Organism |
|---|---|---|---|
| 4.2.3.12 | DELTAV57 | mutant enzyme DELTAV57 is incorrectly folded and thus unstable | Homo sapiens |
| 4.2.3.12 | P87L | phosphorylated, 30% of activity of wild type enzyme | Homo sapiens |
| 4.2.3.12 | R16C | 37% of activity of wild type enzyme. Forms stable homomultimers and exhibit significant activity in vitro, but no activity in COS-1 cells | Homo sapiens |
| 4.2.3.12 | R25Q | 61% of activity of wild type enzyme. Phosphorylated, forms stable homomultimers and exhibit significant activity in vitro, but no activity in COS-1 cells | Homo sapiens |
| 4.2.3.12 | R87L | has substantial activity but enhanced sensitivity to local unfolding | Homo sapiens |
KM Value [mM]
| EC Number | KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|---|
| 4.2.3.12 | 0.011 | - |
6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin | wild-type enzyme | Homo sapiens |  |
| 4.2.3.12 | 0.011 | - |
7,8-dihydroneopterin triphosphate | pH 7.4, 37ºC | Homo sapiens | |
| 4.2.3.12 | 0.013 | - |
6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin | mutant enzyme P87L | Homo sapiens | |
| 4.2.3.12 | 0.0305 | - |
6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin | mutant enzyme R25Q | Homo sapiens | |
| 4.2.3.12 | 0.0308 | - |
6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin | mutant enzyme R16C | Homo sapiens | |
Molecular Weight [Da]
| EC Number | Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
|---|---|---|---|---|
| 4.2.3.12 | 16199 | - |
x * 16199, mutant protein R16C, electrospray mass spectrometry | Homo sapiens |
| 4.2.3.12 | 16224 | - |
x * 16224, mutant protein R25Q, electrospray mass spectrometry | Homo sapiens |
| 4.2.3.12 | 16255 | - |
1 * or 2 * 16255, wild-type enzyme occurs as monomeric or dimeric form, electrospray mass spectrometry | Homo sapiens |
| 4.2.3.12 | 16255 | - |
2 * or 1 * 16255, wild-type enzyme occurs as monomeric or dimeric form, electrospray mass spectrometry | Homo sapiens |
Organism
| EC Number | Organism | UniProt | Comment | Textmining |
|---|---|---|---|---|
| 4.2.3.12 | Homo sapiens | - |
- |
- |
Purification (Commentary)
| EC Number | Purification (Comment) | Organism |
|---|---|---|
| 4.2.3.12 | - |
Homo sapiens |
Source Tissue
| EC Number | Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|---|
| 4.2.3.12 | fibroblast | cells from patients with BH4 deficiency | Homo sapiens | - |
Specific Activity [micromol/min/mg]
| EC Number | Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
|---|---|---|---|---|
| 4.2.3.12 | additional information | - |
- |
Homo sapiens |
| 4.2.3.12 | 0.12 | - |
- |
Homo sapiens |
Substrates and Products (Substrate)
| EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 4.2.3.12 | 6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin | - |
Homo sapiens | 6-(1,2-dioxopropyl)-5,6,7,8-tetrahydropterin + triphosphate | - |
? | |
Subunits
| EC Number | Subunits | Comment | Organism |
|---|---|---|---|
| 4.2.3.12 | ? | x * 16199, mutant protein R16C, electrospray mass spectrometry | Homo sapiens |
| 4.2.3.12 | ? | x * 16224, mutant protein R25Q, electrospray mass spectrometry | Homo sapiens |
| 4.2.3.12 | dimer | 2 * or 1 * 16255, wild-type enzyme occurs as monomeric or dimeric form, electrospray mass spectrometry | Homo sapiens |
| 4.2.3.12 | monomer | 1 * or 2 * 16255, wild-type enzyme occurs as monomeric or dimeric form, electrospray mass spectrometry | Homo sapiens |
Turnover Number [1/s]
| EC Number | Turnover Number Minimum [1/s] | Turnover Number Maximum [1/s] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|---|
| 4.2.3.12 | 0.01 | - |
6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin | mutant enzyme P87L | Homo sapiens | |
| 4.2.3.12 | 0.012 | - |
6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin | mutant enzyme R16C | Homo sapiens | |
| 4.2.3.12 | 0.02 | - |
6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin | mutant enzyme R25Q | Homo sapiens | |
| 4.2.3.12 | 0.032 | - |
6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin | wild-type enzyme | Homo sapiens | |
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