| URN | urn:agi-llid:5091 |
|---|---|
| Connectivity | 131 |
| Name | Pc |
| Description | pyruvate carboxylase |
| Notes | This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternate transcript variants are encoded by this gene. |
| Pathway | pyruvate metabolic pathway |
|---|---|
| New Pathway | |
| glycolysis/gluconeogenesis pathway | |
| gluconeogenesis pathway | |
| pyruvate metabolic pathway |
| GO Molecular Function | catalytic activity |
|---|---|
| carboxylic acid binding | |
| nucleotide binding | |
| ligase activity | |
| biotin binding | |
| ATP binding | |
| metal ion binding | |
| manganese ion binding | |
| pyruvate carboxylase activity |
| GO Cellular Component | soluble fraction |
|---|---|
| cytoplasm | |
| mitochondrion | |
| mitochondrial inner membrane | |
| mitochondrial matrix |
| GO Biological Process | metabolic process |
|---|---|
| gluconeogenesis | |
| oxaloacetate metabolic process | |
| pyruvate metabolic process | |
| lipid biosynthetic process |
| Ariadne Ontology | Tricarboxylic acid cycle |
|---|
| Group | Tricarboxylic acid cycle |
|---|---|
| catalytic activity | |
| metabolic process | |
| gluconeogenesis | |
| oxaloacetate metabolic process | |
| pyruvate metabolic process | |
| lipid biosynthetic process | |
| carboxylic acid binding | |
| nucleotide binding | |
| ligase activity | |
| biotin binding | |
| ATP binding | |
| metal ion binding | |
| manganese ion binding | |
| pyruvate carboxylase activity | |
| soluble fraction | |
| cytoplasm | |
| mitochondrion | |
| mitochondrial inner membrane | |
| mitochondrial matrix |
| MedScan ID | 5091 |
|---|
| Hugo ID | 8636 |
|---|
| Human chromosome position | 11q13.4-q13.5 |
|---|
| LocusLink ID | 5091 |
|---|---|
| 18563 | |
| 25104 |
| Alias | PCB |
|---|---|
| pyruvate carboxylase, mitochondrial | |
| pyruvic carboxylase | |
| Pc | |
| pyruvate decarboxylase | |
| Pcx | |
| LOC360315 | |
| phocomelic carboxylase | |
| phocomelic mutant | |
| pyruvate carboxylase | |
| phocomelic |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 608786 |
|---|---|
| 266150 |
| Mouse chromosome position | 19 0.0 cM |
|---|
| GO ID | 0005524 |
|---|---|
| 0009374 | |
| 0031406 | |
| 0016874 | |
| 0046872 | |
| 0000166 | |
| 0004736 | |
| 0006094 | |
| 0008610 | |
| 0008152 | |
| 0006107 | |
| 0005737 | |
| 0005743 | |
| 0005759 | |
| 0005739 | |
| 0005625 | |
| 0003824 | |
| 0006090 | |
| 0030145 |
| Rat chromosome position | 1q42 |
|---|
| Swiss-Prot Accession | P11498 |
|---|---|
| Q3UFS6 | |
| Q8BP54 | |
| Q05920 | |
| Q3T9S7 | |
| Q3TCQ3 | |
| Q62043 | |
| P52873 | |
| Q16705 | |
| Q5RKM0 | |
| Q64555 |
| PIR ID | G01933 |
|---|---|
| S68252 |
| Unigene ID | Hs.89890 |
|---|---|
| Mm.1845 | |
| Rn.11094 |
| KEGG ID | hsa:5091 |
|---|---|
| mmu:18563 | |
| rno:25104 |
| EC Number | 6.4.1.1 |
|---|
| Swiss-Prot ID | PYC_HUMAN |
|---|---|
| PYC_RAT | |
| Q3UFS6_MOUSE | |
| Q8BP54_MOUSE | |
| PYC_MOUSE |
| Cell Localization | Mitochondrion matrix |
|---|---|
| Mitochondria |
| IPI ID | IPI00299402 |
|---|---|
| IPI00210435 | |
| IPI00943457 | |
| IPI00114710 |
| Homologene ID | 5422 |
|---|
| RGD ID | 3262 |
|---|
| MGI ID | 97520 |
|---|