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Literature summary for 4.2.3.12 extracted from

  • Oppliger, T.; Thöny, B.; Nar, H.; Burgisser, D.; Huber, R.; Heizmann, C.W.; Blau, N.
    Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans (1995), J. Biol. Chem., 270, 29498-29506.
    View publication on PubMed
Search for more literature for 4.2.3.12

Cloned(Commentary)

Cloned (Comment) Organism
expression in Escherichia coli and COS-1 cells, wild-type enzyme and 4 naturally occurring mutants Homo sapiens

Protein Variants

Protein Variants Comment Organism
DELTAV57 mutant enzyme DELTAV57 is incorrectly folded and thus unstable Homo sapiens
P87L phosphorylated, 30% of activity of wild type enzyme Homo sapiens
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
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
R87L has substantial activity but enhanced sensitivity to local unfolding Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.011
-
 6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin wild-type enzyme Homo sapiens
0.011
-
 7,8-dihydroneopterin triphosphate pH 7.4, 37ºC Homo sapiens
0.013
-
 6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin mutant enzyme P87L Homo sapiens
0.0305
-
 6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin mutant enzyme R25Q Homo sapiens
0.0308
-
 6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin mutant enzyme R16C Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
16199
-
 x * 16199, mutant protein R16C, electrospray mass spectrometry Homo sapiens
16224
-
 x * 16224, mutant protein R25Q, electrospray mass spectrometry Homo sapiens
16255
-
 1 * or 2 * 16255, wild-type enzyme occurs as monomeric or dimeric form, electrospray mass spectrometry Homo sapiens
16255
-
 2 * or 1 * 16255, wild-type enzyme occurs as monomeric or dimeric form, electrospray mass spectrometry Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Purification (Commentary)

Purification (Comment) Organism
-
 Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast cells from patients with BH4 deficiency Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
-
 Homo sapiens
0.12
-
-
 Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin
-
 Homo sapiens 6-(1,2-dioxopropyl)-5,6,7,8-tetrahydropterin + triphosphate
-
 ?

Subunits

Subunits Comment Organism
? x * 16199, mutant protein R16C, electrospray mass spectrometry Homo sapiens
? x * 16224, mutant protein R25Q, electrospray mass spectrometry Homo sapiens
dimer 2 * or 1 * 16255, wild-type enzyme occurs as monomeric or dimeric form, electrospray mass spectrometry Homo sapiens
monomer 1 * or 2 * 16255, wild-type enzyme occurs as monomeric or dimeric form, electrospray mass spectrometry Homo sapiens

Turnover Number [1/s]

Turnover Number Minimum [1/s] Turnover Number Maximum [1/s] Substrate Comment Organism Structure
0.01
-
 6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin mutant enzyme P87L Homo sapiens
0.012
-
 6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin mutant enzyme R16C Homo sapiens
0.02
-
 6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin mutant enzyme R25Q Homo sapiens
0.032
-
 6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin wild-type enzyme Homo sapiens