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Literature summary for 6.3.4.16 extracted from

  • Diez-Fernandez, C.; Martinez, A.I.; Pekkala, S.; Barcelona, B.; Perez-Arellano, I.; Guadalajara, A.M.; Summar, M.; Cervera, J.; Rubio, V.
    Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool (2013), Hum. Mutat., 34, 1149-1159.
    View publication on PubMed
Search for more literature for 6.3.4.16

Activating Compound

Activating Compound Comment Organism Structure
glycerol the recombinant enzyme CPS1 is activated by glycerol in the absence of N-acetyl-L-glutamate Homo sapiens
N-acetyl-L-glutamate essential activator Homo sapiens
N-carbamyl-L-glutamate
-
 Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Escherichia coli DH10Bac cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
A1378T the carbamoyl-phosphate synthetase deficiency-causing mutation greatly decreases enzyme activity Homo sapiens
A438P inactive Homo sapiens
Al38P the carbamoyl-phosphate synthetase deficiency-causing mutation greatly decreases enzyme activity Homo sapiens
G1376S the mutation has no detectable effect on activity Homo sapiens
L1381S the mutation is clearly disease-causing (carbamoyl-phosphate synthetase deficiency), since it induces strong enzyme instability Homo sapiens
L390R the mutation is clearly disease-causing (carbamoyl-phosphate synthetase deficiency), since it induces strong enzyme instability Homo sapiens
N355D the carbamoyl-phosphate synthetase deficiency-causing mutation greatly decreases enzyme activity Homo sapiens
T1443A the carbamoyl-phosphate synthetase deficiency-causing mutation greatly decreases enzyme activity Homo sapiens
T344A the mutation has no detectable effect on activity Homo sapiens
T544M the carbamoyl-phosphate synthetase deficiency-causing mutation greatly decreases enzyme activity Homo sapiens
Y389C the carbamoyl-phosphate synthetase deficiency-causing mutation greatly decreases enzyme activity Homo sapiens

Inhibitors

Inhibitors Comment Organism Structure
glycerol in the presence of N-acetyl-L-glutamate the enzyme is inhibited by increasing concentrations of glycerol Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.43
-
 ATP mutant enzyme Y389C, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
0.45
-
 ATP mutant enzyme G1376S, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
0.45
-
 ATP mutant enzyme T344A, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
0.47
-
 ATP recombinant wild type enzyme, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
0.57
-
 ATP mutant enzyme N355D, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
0.62
-
 ATP mutant enzyme T1443A, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
0.9
-
 ATP mutant enzyme A1378T, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
0.9
-
 NH4+ mutant enzyme A1378T, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
1
-
 NH4+ mutant enzyme N355D, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
1
-
 NH4+ mutant enzyme T1443A, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
1
-
 NH4+ recombinant wild type enzyme, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
1.1
-
 NH4+ mutant enzyme G1376S, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
1.1
-
 NH4+ mutant enzyme Y389C, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
1.2
-
 NH4+ mutant enzyme T344A, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
1.3
-
 NH4+ mutant enzyme T544M, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
1.92
-
 ATP mutant enzyme T544M, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
3.6
-
 HCO3- mutant enzyme T1443A, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
4
-
 HCO3- recombinant wild type enzyme, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
4.2
-
 HCO3- mutant enzyme Y389C, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
4.3
-
 HCO3- mutant enzyme A1378T, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
4.3
-
 HCO3- mutant enzyme T344A, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
4.5
-
 HCO3- mutant enzyme G1376S, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
4.6
-
 HCO3- mutant enzyme N355D, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens
242
-
 HCO3- mutant enzyme T544M, in 50 mM glycyl-glycine pH 7.4, 70 mM KCl, 1 mM dithiothreitol, 20 mM MgSO4, at 37°C Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
 Homo sapiens 5739
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
192000
-
 recombinant enzyme, gel filtration Homo sapiens
202000
-
 native enzyme, gel filtration Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2 ATP + NH4+ + HCO3- Homo sapiens
-
 2 ADP + phosphate + carbamoyl phosphate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P31327
-
-

Purification (Commentary)

Purification (Comment) Organism
HisTrap column chromatography Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
intestine
-
 Homo sapiens
-
liver
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2 ATP + NH4+ + HCO3-
-
 Homo sapiens 2 ADP + phosphate + carbamoyl phosphate
-
 ?

Synonyms

Synonyms Comment Organism
carbamoyl-phosphate synthetase 1
-
 Homo sapiens
CPS1
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens