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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]
PC (Pyruvate Carboxylase) is a Protein Coding gene. Diseases associated with PC include Pyruvate Carboxylase Deficiency and Lactic Acidosis. Among its related pathways are Glucose metabolism and Citrate cycle (TCA cycle). Gene Ontology (GO) annotations related to this gene include ligase activity and biotin carboxylase activity. An important paralog of this gene is ACACA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004736 | pyruvate carboxylase activity | TAS,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 23861867 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 23861867 |
GO:0005739 | mitochondrion | IEA,IDA | 16729965 |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.46
|
.35
|
2 | Metabolism of water-soluble vitamins and cofactors | ||
3 | Carbon metabolism | ||
4 | Citrate cycle (TCA cycle) | ||
5 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006090 | pyruvate metabolic process | IBA | 21873635 |
GO:0006094 | gluconeogenesis | TAS | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006768 | biotin metabolic process | TAS | -- |
GO:0008152 | metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Biotin | Approved, Investigational | Nutra | Target, cofactor | 62 | ||
Pyruvic acid | Approved, Investigational | Nutra | Target | 0 | ||
Manganese | Approved | Nutra | 56 | |||
Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2451 | ||
Phosphoric acid | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
acetyl-coa |
|
72-89-9 | ||||
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 | |||
Carbonic acid |
|
71-52-3, 463-79-6 |
|
|||
Oxalacetic acid |
|
328-42-7 |
|
|||
Phosphate |
|
14066-19-4, 14265-44-2 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 23b | ^ | 24 | ^ | 25 |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PC 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PC 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PC 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pcx 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pc 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PC 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PC 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PC 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pc.2 30 |
|
||
Str.11343 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68971 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pcxa 31 |
|
OneToMany | |
pcxb 30 31 |
|
OneToMany | |||
pc 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6644 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1516 30 31 |
|
OneToOne | |
BcDNA:GH06348 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004742 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | pyc-1 30 31 32 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAR162C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PYC1 30 31 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C05764g 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4573 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU02505 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pyr1 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3275 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
645555 | Uncertain Significance: Pyruvate carboxylase deficiency | 66,866,222(-) | C/T | MISSENSE_VARIANT | |
649881 | Uncertain Significance: Pyruvate carboxylase deficiency | 66,866,297(-) | C/T | MISSENSE_VARIANT | |
658310 | Uncertain Significance: Pyruvate carboxylase deficiency | 66,853,240(-) | G/A | SYNONYMOUS_VARIANT | |
658529 | Uncertain Significance: Pyruvate carboxylase deficiency | 66,850,920(-) | T/C | MISSENSE_VARIANT | |
659063 | Uncertain Significance: Pyruvate carboxylase deficiency | 66,850,724(-) | G/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
pyruvate carboxylase deficiency |
|
|
lactic acidosis |
|
|
holocarboxylase synthetase deficiency |
|
|
multiple carboxylase deficiency |
|
|
biotin deficiency |
|
|