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Literature summary for 6.4.1.1 extracted from

  • Wang, D.; Yang, H.; De Braganca, K.C.; Lu, J.; Yu Shih, L.; Briones, P.; Lang, T.; De Vivo, D.C.
    The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival (2008), Mol. Genet. Metab., 95, 31-38.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 6.4.1.1

Activating Compound

Activating Compound Comment Organism Structure
acetyl-CoA activates the conversion of pyruvate to oxaloacetate Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
genetic structure, expression analysis, genotyping of genetic variants Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information molecular basis of pyruvate carboxylase deficiency, mosaicism correlates with prolonged survival, three clinical phenotypes: type A is an infantile form, type B is a neonatal form, and type Casa benign form. Analysis of combinations of missense mutations, deletions, a splice site substitution and a nonsense mutation, overview Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrial matrix
-
 Homo sapiens 5759
-

Metals/Ions

Metals/Ions Comment Organism Structure
Mg2+
-
 Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + pyruvate + HCO3- Homo sapiens the enzyme plays a pivotal role in intermediary metabolism. It serves a critical anaplerotic function replenishing the Krebs cycle intermediates by catalyzing the conversion of pyruvate to oxaloacetate. In addition, pyruvate carboxylase controls the first step of hepatic gluconeogenesis, and is involved in lipogenesis ADP + phosphate + oxaloacetate
-
 ?
additional information Homo sapiens enzyme deficiency is a rare autosomal recessive disease ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
additional information tissue-specific expression Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + pyruvate + HCO3-
-
 Homo sapiens ADP + phosphate + oxaloacetate
-
 ?
ATP + pyruvate + HCO3- the enzyme plays a pivotal role in intermediary metabolism. It serves a critical anaplerotic function replenishing the Krebs cycle intermediates by catalyzing the conversion of pyruvate to oxaloacetate. In addition, pyruvate carboxylase controls the first step of hepatic gluconeogenesis, and is involved in lipogenesis Homo sapiens ADP + phosphate + oxaloacetate
-
 ?
additional information enzyme deficiency is a rare autosomal recessive disease Homo sapiens ?
-
 ?

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens