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Literature summary extracted from

  • Elzaouk, L.; Laufs, S.; Heerklotz, D.; Leimbacher, W.; Blau, N.; Resibois, A.; Thoeny, B.
    Nuclear localization of tetrahydrobiopterin biosynthetic enzymes (2004), Biochim. Biophys. Acta, 1670, 56-68.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
4.2.3.12 expression in Cos-1 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.2.3.12 C10A 50% decrease in activity Homo sapiens
4.2.3.12 Delta1-11 Flag-tag fused PTPS with N-terminal deletion, 97% decrease in activity Homo sapiens
4.2.3.12 DELTA119-145 Flag-tag fused PTPS with C-terminal deletion, no detectable activity, no more nuclear staining Homo sapiens
4.2.3.12 DELTA143-145 Flag-tag fused PTPS with C-terminal deletion, no detectable activity, no more nuclear staining Homo sapiens
4.2.3.12 K143A 35% decrease in activity Homo sapiens
4.2.3.12 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
4.2.3.12 R16C 89% decrease in activity Homo sapiens
4.2.3.12 R25Q 96% decrease in activity Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
4.2.3.12 cytoplasm
-
 Mus musculus 5737
-
4.2.3.12 cytoplasm immunofluorescence, Western blot analysis Homo sapiens 5737
-
4.2.3.12 cytoplasm weak staining in immunohistochemistry Rattus norvegicus 5737
-
4.2.3.12 nucleus
-
 Mus musculus 5634
-
4.2.3.12 nucleus immunofluorescence, Western blot analysis Homo sapiens 5634
-
4.2.3.12 nucleus strong staining in immunohistochemistry Rattus norvegicus 5634
-

Organism

EC Number Organism UniProt Comment Textmining
4.2.3.12 Chlorocebus aethiops
-
-
-
4.2.3.12 Homo sapiens
-
-
-
4.2.3.12 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
-
4.2.3.12 Rattus norvegicus
-
 Wistar rat
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
4.2.3.12 brain
-
 Rattus norvegicus
-
4.2.3.12 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
-
4.2.3.12 COS-1 cell monkey kidney cells, CRL 1650 Chlorocebus aethiops
-
4.2.3.12 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
-
4.2.3.12 SK-N-BE(2) cell neuroblastoma cells, CRL 2271 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
-
 0.3 microU/mg protein Chlorocebus aethiops
4.2.3.12 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
4.2.3.12 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
4.2.3.12 additional information
-
 18 microU/mg total protein Homo sapiens
4.2.3.12 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
4.2.3.12 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

EC Number Synonyms Comment Organism
4.2.3.12 6-pyruvoyl-tetrahydropterin synthase
-
 Mus musculus
4.2.3.12 6-pyruvoyl-tetrahydropterin synthase
-
 Homo sapiens
4.2.3.12 6-pyruvoyl-tetrahydropterin synthase
-
 Rattus norvegicus
4.2.3.12 6-pyruvoyl-tetrahydropterin synthase
-
 Chlorocebus aethiops
4.2.3.12 PTPS
-
 Homo sapiens