Activating Compound | Comment | Organism | Structure |
---|---|---|---|
acetyl-CoA | activates the conversion of pyruvate to oxaloacetate | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
genetic structure, expression analysis, genotyping of genetic variants | Homo sapiens |
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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrial matrix | - |
Homo sapiens | 5759 | - |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Mg2+ | - |
Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
additional information | tissue-specific expression | Homo sapiens | - |
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 | Comment | Organism | Structure |
---|---|---|---|
ATP | - |
Homo sapiens |