| URN | urn:agi-llid:5091 |
|---|---|
| Total Entities | 0 |
| Connectivity | 422 |
| 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. |
| GO Molecular Function | catalytic activity |
|---|---|
| ligase activity | |
| biotin carboxylase activity | |
| pyruvate carboxylase activity | |
| nucleotide binding | |
| ATP binding | |
| biotin binding | |
| carboxylic acid binding | |
| DNA binding | |
| metal ion binding |
| GO Cellular Component | mitochondrial inner membrane |
|---|---|
| mitochondrial matrix | |
| cytosol | |
| mitochondrion |
| GO Biological Process | metabolic process |
|---|---|
| lipid metabolic process | |
| small molecule metabolic process | |
| gluconeogenesis | |
| glucose metabolic process | |
| vitamin metabolic process | |
| pyruvate metabolic process | |
| biotin metabolic process | |
| oxaloacetate metabolic process | |
| water-soluble vitamin metabolic process | |
| carbohydrate metabolic process |
| Pathway | New Pathway |
|---|---|
| glycolysis/gluconeogenesis pathway | |
| gluconeogenesis pathway | |
| pyruvate metabolic pathway |
| Group | Tricarboxylic acid cycle |
|---|---|
| metabolic process | |
| lipid metabolic process | |
| small molecule metabolic process | |
| gluconeogenesis | |
| glucose metabolic process | |
| vitamin metabolic process | |
| pyruvate metabolic process | |
| biotin metabolic process | |
| oxaloacetate metabolic process | |
| water-soluble vitamin metabolic process | |
| catalytic activity | |
| ligase activity | |
| biotin carboxylase activity | |
| pyruvate carboxylase activity | |
| carbohydrate metabolic process | |
| nucleotide binding | |
| ATP binding | |
| biotin binding | |
| carboxylic acid binding | |
| DNA binding | |
| metal ion binding | |
| mitochondrial inner membrane | |
| mitochondrial matrix | |
| cytosol | |
| mitochondrion | |
| Disease Genes Identified in Epilepsy Associated with Inherited Errors of Metabolism | |
| Secreted proteins |
| LocusLink ID | 5091 |
|---|---|
| 18563 | |
| 25104 |
| Cell Localization | Mitochondria |
|---|---|
| Mitochondrion matrix |
| GO ID | 0005524 |
|---|---|
| 0003677 | |
| 0009374 | |
| 0004075 | |
| 0046872 | |
| 0004736 | |
| 0006768 | |
| 0005975 | |
| 0006094 | |
| 0006006 | |
| 0006629 | |
| 0006107 | |
| 0006090 | |
| 0044281 | |
| 0006766 | |
| 0006767 | |
| 0005829 | |
| 0005743 | |
| 0005759 | |
| 0005739 | |
| 0031406 | |
| 0003824 | |
| 0016874 | |
| 0000166 | |
| 0008152 | |
| 0030145 | |
| 0008610 | |
| 0005737 | |
| 0005625 |
| Alias | PCB |
|---|---|
| pyruvate carboxylase, mitochondrial | |
| pyruvic carboxylase | |
| Pc | |
| pyruvate decarboxylase | |
| Pcx | |
| pyruvate carboxylase | |
| phocomelic carboxylase | |
| LOC360315 | |
| phocomelic mutant | |
| phocomelic |
| Mouse chromosome position | 19 4.07 cM |
|---|---|
| 19 0.0 cM |
| OMIM ID | 608786 |
|---|---|
| 266150 |
| Rat chromosome position | 1q42 |
|---|
| Hugo ID | 8636 |
|---|
| Human chromosome position | 11q13.4-q13.5 |
|---|
| Swiss-Prot Accession | P11498 |
|---|---|
| E9QPD7 | |
| Q3UFS6 | |
| Q8BP54 | |
| G5E8R3 | |
| Q05920 | |
| P52873 | |
| Q5RKM0 | |
| Q64555 | |
| Q16705 |
| PIR ID | S68252 |
|---|---|
| G01933 |
| Unigene ID | Hs.89890 |
|---|---|
| Mm.1845 | |
| Rn.11094 |
| KEGG ID | hsa:5091 |
|---|---|
| mmu:18563 | |
| rno:25104 |
| Swiss-Prot ID | PYC_RAT |
|---|---|
| PYC_HUMAN |
| EC Number | 6.4.1.1 |
|---|
| Ensembl ID | ENSG00000173599 |
|---|---|
| ENSP00000377530 | |
| ENST00000393958 | |
| ENSP00000377532 | |
| ENST00000393960 | |
| ENSP00000377527 | |
| ENST00000393955 | |
| ENSMUSG00000024892 | |
| ENSMUSP00000063825 | |
| ENSMUST00000068004 | |
| ENSMUSP00000109456 | |
| ENSMUST00000113825 | |
| ENSRNOG00000019372 | |
| ENSRNOP00000026316 | |
| ENSRNOT00000026316 |
| Homologene ID | 5422 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 97520 |
|---|
| RGD ID | 3262 |
|---|
| MedScan ID | 5091 |
|---|