Mus musculus Gene: Pcx
Summary
InnateDB Gene IDBG-129649.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Pcx
Gene Name pyruvate carboxylase
Synonyms Pc; Pcb
Species Mus musculus
Ensembl Gene ENSMUSG00000024892
Encoded Proteins
pyruvate carboxylase
pyruvate carboxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000173599:
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. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
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. Alternatively spliced transcript variants with different 5\' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:4510472-4621752
Strand Forward strand
Band A
Transcripts
ENSMUST00000068004 ENSMUSP00000063825
ENSMUST00000113825 ENSMUSP00000109456
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 14 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003824 catalytic activity
GO:0004075 biotin carboxylase activity
GO:0004736 pyruvate carboxylase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008716 D-alanine-D-alanine ligase activity
GO:0009374 biotin binding
GO:0016874 ligase activity
GO:0031406 carboxylic acid binding
GO:0046872 metal ion binding
Biological Process
GO:0006090 pyruvate metabolic process
GO:0006094 gluconeogenesis
GO:0006107 oxaloacetate metabolic process
GO:0008152 metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Citrate cycle (TCA cycle) pathway
Pyruvate metabolism pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Gluconeogenesis pathway
Biotin transport and metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Myoclonic epilepsy of Lafora pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Metabolism of carbohydrates pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
Metabolism of vitamins and cofactors pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in cobalamin (B12) metabolism pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Metabolism of carbohydrates pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defects in vitamin and cofactor metabolism pathway
Defects in biotin (Btn) metabolism pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Myoclonic epilepsy of Lafora pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective BTD causes biotidinase deficiency pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CD320 causes methylmalonic aciduria pathway
Biotin transport and metabolism pathway
Metabolism of water-soluble vitamins and cofactors pathway
Metabolism of vitamins and cofactors pathway
Gluconeogenesis pathway
Glycogen storage diseases pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Glucose metabolism pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Disease pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
KEGG
Pyruvate metabolism pathway
Citrate cycle (TCA cycle) pathway
INOH
Citrate cycle pathway
Glycolysis Gluconeogenesis pathway
Alanine Aspartate Asparagine metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL E9QPD7 G5E8R3
UniProt Splice Variant
Entrez Gene 18563
UniGene Mm.1845 Mm.466963 Mm.488807
RefSeq NM_001162946 NM_008797 XM_006531677 XM_006531678 XM_006531679
OMIM
CCDS CCDS29430 CCDS50352
HPRD
IMGT
MGI ID MGI:97520
MGI Symbol Pcx
EMBL AC124347 AC128739 CH466612
GenPept EDL33053
RNA Seq Atlas 18563