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Aliases for PC Gene

Aliases for PC Gene

  • Pyruvate Carboxylase 2 3
  • Pyruvic Carboxylase 3 4
  • EC 4 63
  • PCB 3 4
  • Pyruvate Carboxylase, Mitochondrial 3
  • EC 6.4.1 63

External Ids for PC Gene

Previous GeneCards Identifiers for PC Gene

  • GC11M069150
  • GC11M068297
  • GC11M066391
  • GC11M066372
  • GC11M066615
  • GC11M062945

Summaries for PC Gene

Entrez Gene Summary for PC Gene

  • 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]

GeneCards Summary for PC Gene

PC (Pyruvate Carboxylase) is a Protein Coding gene. Diseases associated with PC include pyruvate carboxylase deficiency and pyruvate carboxylase deficiency, benign type. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include biotin carboxylase activity and pyruvate carboxylase activity.

UniProtKB/Swiss-Prot for PC Gene

  • Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PC Gene

Genomics for PC Gene

Regulatory Elements for PC Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PC Gene

66,848,233 bp from pter
66,958,376 bp from pter
110,144 bases
Minus strand

Genomic View for PC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PC Gene

Proteins for PC Gene

  • Protein details for PC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pyruvate carboxylase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B4DN00
    • Q16705

    Protein attributes for PC Gene

    1178 amino acids
    Molecular mass:
    129634 Da
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 1 Mn(2+) ion per subunit.;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for PC Gene

    Alternative splice isoforms for PC Gene


neXtProt entry for PC Gene

Proteomics data for PC Gene at MOPED

Post-translational modifications for PC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PC Gene

Antibody Products

Domains for PC Gene

Gene Families for PC Gene

Suggested Antigen Peptide Sequences for PC Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 ATP-grasp domain.
  • Contains 1 ATP-grasp domain.
  • Contains 1 biotin carboxylation domain.
  • Contains 1 biotinyl-binding domain.
  • Contains 1 carboxyltransferase domain.
genes like me logo Genes that share domains with PC: view

Function for PC Gene

Molecular function for PC Gene

GENATLAS Biochemistry:
pyruvate carboxylase,biotin dependent,mitochondrial conversion of pyruvate to oxalocetate,branched chain,valine catabolism,gluconeogenesis,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + pyruvate + HCO(3)(-) = ADP + phosphate + oxaloacetate
UniProtKB/Swiss-Prot Function:
Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate

Enzyme Numbers (IUBMB) for PC Gene

Gene Ontology (GO) - Molecular Function for PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003824 catalytic activity --
GO:0004075 biotin carboxylase activity IEA --
GO:0004736 pyruvate carboxylase activity TAS --
GO:0005515 protein binding IPI 23861867
genes like me logo Genes that share ontologies with PC: view

Phenotypes for PC Gene

GenomeRNAi human phenotypes for PC:
genes like me logo Genes that share phenotypes with PC: view

Animal Model Products

miRNA for PC Gene

miRTarBase miRNAs that target PC

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PC Gene

Localization for PC Gene

Subcellular locations from UniProtKB/Swiss-Prot for PC Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for PC Gene COMPARTMENTS Subcellular localization image for PC gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23861867
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PC: view

Pathways for PC Gene

SuperPathways for PC Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Glycolysis and gluconeogenesis (short map)
3 Metabolism
4 Carbon metabolism
5 Glucose metabolism
genes like me logo Genes that share pathways with PC: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P11498-PYC_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis

Gene Ontology (GO) - Biological Process for PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006090 pyruvate metabolic process IEA --
GO:0006094 gluconeogenesis TAS --
GO:0006107 oxaloacetate metabolic process IEA --
genes like me logo Genes that share ontologies with PC: view

Compounds for PC Gene

(3) Drugbank Compounds for PC Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • (+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
58-85-5 171548 Target approved, nutraceutical
Pyruvic acid
  • 2-ketopropionic acid
127-17-3 1060 Target approved, nutraceutical
11840927 Target experimental

(9) HMDB Compounds for PC Gene

Compound Synonyms Cas Number PubMed IDs
  • S-Acetyl coenzyme A
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
  • adenosindiphosphorsaeure
  • (+)-Biotin
  • manganese

(57) Novoseek inferred chemical compound relationships for PC Gene

Compound -log(P) Hits PubMed IDs
pyruvate 93.6 191
oxaloacetate 87.8 17
methylcrotonyl-coa 82.8 1
carboxyphosphate 82.1 1
acetyl-coa 81.5 20
genes like me logo Genes that share compounds with PC: view

Transcripts for PC Gene

Unigene Clusters for PC Gene

Pyruvate carboxylase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PC Gene

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: - - -
SP5: -

ExUns: 23b ^ 24 ^ 25

Relevant External Links for PC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PC Gene

mRNA expression in normal human tissues for PC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PC Gene

This gene is overexpressed in Liver (11.9).

Protein differential expression in normal tissues for PC Gene

This gene is overexpressed in Liver (18.5), Fetal Liver (9.9), Salivary gland (8.5), Kidney (7.1), and Brain (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PC Gene

SOURCE GeneReport for Unigene cluster for PC Gene Hs.89890

genes like me logo Genes that share expressions with PC: view

Expression partners for PC Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PC Gene

Orthologs for PC Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PC Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PC 35
  • 91.26 (n)
  • 97.2 (a)
PC 36
  • 97 (a)
(Canis familiaris)
Mammalia PC 35
  • 91.34 (n)
  • 97.71 (a)
PC 36
  • 98 (a)
(Mus musculus)
Mammalia Pcx 35
  • 89.16 (n)
  • 96.77 (a)
Pcx 16
Pcx 36
  • 97 (a)
(Pan troglodytes)
Mammalia PC 35
  • 99.51 (n)
  • 99.74 (a)
PC 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Pc 35
  • 88.71 (n)
  • 96.35 (a)
(Monodelphis domestica)
Mammalia PC 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia PC 36
  • 67 (a)
(Anolis carolinensis)
Reptilia PC 36
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pc.2 35
  • 73.32 (n)
  • 86.62 (a)
Str.11343 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68971 35
(Danio rerio)
Actinopterygii pc 35
pcxb 35
  • 72.77 (n)
  • 83.76 (a)
pcxa 36
  • 83 (a)
pcxb 36
  • 83 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6644 35
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH06348 37
  • 68 (a)
CG1516 35
  • 69.2 (n)
  • 69.31 (a)
CG1516 36
  • 66 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004742 35
  • 63.8 (n)
  • 69.13 (a)
(Caenorhabditis elegans)
Secernentea pyc-1 37
  • 65 (a)
pyc-1 35
  • 60.69 (n)
  • 65.65 (a)
pyc-1 36
  • 64 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR162C 35
  • 57.15 (n)
  • 54.63 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05764g 35
  • 53.63 (n)
  • 54.1 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PYC1 35
  • 54.78 (n)
  • 54.75 (a)
PYC1 36
  • 53 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3275 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02505 35
  • 58.93 (n)
  • 55.19 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pyr1 35
  • 53.59 (n)
  • 53.61 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4573 36
  • 68 (a)
Species with no ortholog for PC:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PC Gene

Gene Tree for PC (if available)
Gene Tree for PC (if available)

Paralogs for PC Gene

(3) SIMAP similar genes for PC Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PC: view

No data available for Paralogs for PC Gene

Variants for PC Gene

Sequence variations from dbSNP and Humsavar for PC Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs616623 -- 66,850,933(+) GGGAA(G/T)TGGGA intron-variant
rs735498 -- 66,909,524(+) CTGCT(A/G)CTGGA intron-variant, upstream-variant-2KB
rs744465 -- 66,862,011(-) GGGGT(G/T)GTGCC intron-variant
rs746018 -- 66,909,895(-) CAGCC(A/G)TACCA intron-variant
rs746019 -- 66,909,865(-) ATACA(A/G)TGGCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PC Gene

Variant ID Type Subtype PubMed ID
nsv897789 CNV Gain 21882294
nsv897790 CNV Loss 21882294
nsv468602 CNV Loss 19166990
nsv508638 CNV Loss 20534489
nsv897794 CNV Loss 21882294
nsv897795 CNV Loss 21882294
nsv832194 CNV Gain+Loss 17160897
esv2670411 CNV Deletion 23128226
nsv819751 CNV Gain 19587683
esv2457482 CNV Deletion 19546169
esv2744643 CNV Deletion 23290073
esv2662361 CNV Deletion 23128226
esv995385 CNV Gain 20482838
nsv821590 CNV Deletion 20802225
nsv825957 CNV Loss 20364138
esv995606 CNV Gain 20482838
esv25520 CNV Gain 19812545
esv32822 CNV Gain+Loss 17666407

Relevant External Links for PC Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PC Gene

Disorders for PC Gene

(1) OMIM Diseases for PC Gene (608786)


  • Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]: Leads to lactic acidosis, mental retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia. Note=The disease is caused by mutations affecting the gene represented in this entry.

(17) Novoseek inferred disease relationships for PC Gene

Disease -log(P) Hits PubMed IDs
lactic acidemia 77.4 2
acidosis lactic 70.3 5
hyperammonemia 66.6 3
ketoacidosis 49.7 1
metabolic disorder 42.8 4

Genatlas disease for PC Gene

lactate acidosis,presenting as a severe neonatal form with hyperammonemia and abnormal redox state,a milder form with mental retardation,and developmental delay and a benign form

Relevant External Links for PC

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with PC: view

Publications for PC Gene

  1. Primary amino acid sequence and structure of human pyruvate carboxylase. (PMID: 7918683) Wexler I.D. … Kerr D.S. (Biochim. Biophys. Acta 1994) 3 4 23
  2. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. (PMID: 9585002) Wexler I.D. … Higgins J.J. (Pediatr. Res. 1998) 3 4 23
  3. Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. (PMID: 9585612) Carbone M.A. … Robinson B.H. (Am. J. Hum. Genet. 1998) 3 4 23
  4. Crystal structures of human and Staphylococcus aureus pyruvate carboxylase and molecular insights into the carboxyltransfer reaction. (PMID: 18297087) Xiang S. … Tong L. (Nat. Struct. Mol. Biol. 2008) 3 4 23
  5. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. (PMID: 19306334) Monnot S. … Bonnefont J.-P. (Hum. Mutat. 2009) 3 4 23

Products for PC Gene

Sources for PC Gene

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