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Literature summary for 4.2.3.12 extracted from
- Nuclear localization of tetrahydrobiopterin biosynthetic enzymes (2004), Biochim. Biophys. Acta, 1670, 56-68.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| expression in Cos-1 cells | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| C10A | 50% decrease in activity | Homo sapiens |
| Delta1-11 | Flag-tag fused PTPS with N-terminal deletion, 97% decrease in activity | Homo sapiens |
| DELTA119-145 | Flag-tag fused PTPS with C-terminal deletion, no detectable activity, no more nuclear staining | Homo sapiens |
| DELTA143-145 | Flag-tag fused PTPS with C-terminal deletion, no detectable activity, no more nuclear staining | Homo sapiens |
| K143A | 35% decrease in activity | Homo sapiens |
| additional information | fusion protein of PTPS with a N-terminally fused Flag-tag set on 100% of activity, 55% decreased activity of fusion protein of PTPS with a C-terminally fused Flag-tag, 49% increase in activity of fusion protein consisting of PTPS and both N-terminally fused Flag-tag and a N-terminally fused nuclear localization signal | Homo sapiens |
| R16C | 89% decrease in activity | Homo sapiens |
| R25Q | 96% decrease in activity | Homo sapiens |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| cytoplasm | - |
Mus musculus | 5737 | - |
| cytoplasm | immunofluorescence, Western blot analysis | Homo sapiens | 5737 | - |
| cytoplasm | weak staining in immunohistochemistry | Rattus norvegicus | 5737 | - |
| nucleus | - |
Mus musculus | 5634 | - |
| nucleus | immunofluorescence, Western blot analysis | Homo sapiens | 5634 | - |
| nucleus | strong staining in immunohistochemistry | Rattus norvegicus | 5634 | - |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Chlorocebus aethiops | - |
- |
- |
| Homo sapiens | - |
- |
- |
| Mus musculus | - |
transgenic mouse with a replacement of the Pts allele, encoding the 6-pyruvoyl-tetrahydropterin synthase, by an in-frame insertion in exon 2 with the beta-galactosidase gene generating a fusion protein containing the N-terminal 35 amino acids for 6-pyruvoyl-tetrahydropterin synthase followed by the beta-galactosidase | - |
| Rattus norvegicus | - |
Wistar rat | - |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| brain | - |
Rattus norvegicus | - |
| brain | in brain nuclear beta-galactosidase expression in neurons located in prominent catecholaminergic cell groups such as substantia nigra and locus coeruleus, in the ventral part of the hypothalamus, in the hippocampus and in the amygdala. nuclear and cytoplasmic beta-galactosidase expression in germinal periventricular layer | Mus musculus | - |
| COS-1 cell | monkey kidney cells, CRL 1650 | Chlorocebus aethiops | - |
| kidney | in kidney very weak beta-galactosidase expression in adult and strong expression in newborn mice heterozygous for the Pts-lacZ allele (encoding a fusion protein of N-terminal 35 amino acids of 6-pyruvoyl-tetrahydropterin synthase and beta-galactosidase). Localization in the cytoplasm but not in the nucleus in all cells lining the proximal convoluted tube in adult and newborn mice. No staining in the medulla of newborn mice. Nuclear localization in the thin limb of the Henle loops in adult mice | Mus musculus | - |
| SK-N-BE(2) cell | neuroblastoma cells, CRL 2271 | Homo sapiens | - |
Specific Activity [micromol/min/mg]
| Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
|---|---|---|---|
| additional information | - |
0.3 microU/mg protein | Chlorocebus aethiops |
| additional information | - |
1.4 mU/mg in brain determined with the ONPG-assay with the o-nitrophenyl-beta-D-glactopyranoside substrate of a mouse heterozygous for the Pts-lacZ allele (encoding a fusion protein of N-terminal 35 amino acids of 6-pyruvoyl-tetrahydropterin synthase and beta-galactosidase), 1 U is defined as 1 OD at 420 nm per minute at pH 7.5 and 37°C | Mus musculus |
| additional information | - |
10fold more Flag-tag fused PTPS per total protein in cytoplasm compared to nucleus, no activity of Flag-tag fused PTPS in the nucleus | Homo sapiens |
| additional information | - |
18 microU/mg total protein | Homo sapiens |
| additional information | - |
2.2 mU/mg in liver determined with the ONPG-assay with the o-nitrophenyl-beta-D-glactopyranoside substrate of a mouse heterozygous for the Pts-lacZ allele (encoding a fusion protein of N-terminal 35 amino acids of 6-pyruvoyl-tetrahydropterin synthase and beta-galactosidase), 1 U is defined as 1 OD at 420 nm per minute at pH 7.5 and 37°C | Mus musculus |
| additional information | - |
3.5 mU/mg in liver determined with the ONPG-assay with the o-nitrophenyl-beta-D-glactopyranoside substrate of a mouse homozygous for the Pts-lacZ allele (encoding a fusion protein of N-terminal 35 amino acids of 6-pyruvoyl-tetrahydropterin synthase and beta-galactosidase), 1 U is defined as 1 OD at 420 nm per minute at pH 7.5 and 37°C | Mus musculus |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| 6-pyruvoyl-tetrahydropterin synthase | - |
Mus musculus |
| 6-pyruvoyl-tetrahydropterin synthase | - |
Homo sapiens |
| 6-pyruvoyl-tetrahydropterin synthase | - |
Rattus norvegicus |
| 6-pyruvoyl-tetrahydropterin synthase | - |
Chlorocebus aethiops |
| PTPS | - |
Homo sapiens |
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