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Aliases for PC Gene

Aliases for PC Gene

  • Pyruvate Carboxylase 2 3 5
  • Pyruvic Carboxylase 3 4
  • EC 4 61
  • PCB 3 4
  • Pyruvate Carboxylase, Mitochondrial 3
  • EC 6.4.1 61

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 Metabolism and Citrate cycle (TCA cycle). GO annotations related to this gene include ligase activity and biotin 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

Enhancers for PC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F066903 0.9 Ensembl ENCODE 25.3 +51.7 51744 5.6 ARID4B DMAP1 YY1 FOS SP5 NFYC PPARG ZNF623 MAFF ZSCAN16 PC C11orf80 RHOD ACTN3 CTSF RIN1 C11orf86 LRFN4 SYT12 LOC100505504
GH11F066727 1.4 FANTOM5 ENCODE 18.5 +230.8 230794 0.5 HDGF TBP HDAC1 CREB3L1 SIN3A ZNF48 ZBTB40 RAD21 ZNF2 YY1 PC SPTBN2 SYT12 GC11M066718 GC11M066719
GH11F066841 0.2 ENCODE 14.5 +115.0 115019 3.6 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 FOS KLF13 ZNF263 C11orf80 CTSF ACTN3 MRPL11 PC CD248 CLCF1 RHOD CDK2AP2 RIN1
GH11F066965 1.5 FANTOM5 Ensembl ENCODE 13.5 -10.7 -10677 6.8 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 BRCA1 YY1 GTF3C2 SLC30A9 RAD9A EIF1AD CLCF1 ENSG00000258297 PC RBM14 RCE1 BRMS1 DPP3 ENSG00000245156
GH11F066879 0.6 Ensembl ENCODE 12.1 +76.4 76386 4.8 TBP PKNOX1 SREBF2 ZNF76 ARID4B SIN3A ZNF2 RAD21 RFX5 ZNF143 C11orf80 ACTN3 CTSF RAD9A RCE1 LRFN4 PC RNU7-23P RHOD LOC100505504
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PC on UCSC Golden Path with GeneCards custom track

Promoters for PC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001570912 176 1201 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS SP3

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

Genes around PC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for PC Gene

    Alternative splice isoforms for PC Gene


neXtProt entry for PC Gene

Selected DME Specific Peptides for PC Gene


Post-translational modifications for PC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families 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 pyruvate 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 IEA --
GO:0004075 biotin carboxylase activity IEA --
GO:0004736 pyruvate carboxylase activity IEA,TAS --
GO:0005515 protein binding IPI 23861867
genes like me logo Genes that share ontologies with PC: view
genes like me logo Genes that share phenotypes with PC: view

Human Phenotype Ontology for PC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PC Gene

MGI Knock Outs for PC:
  • Pcx tm1b(EUCOMM)Wtsi

Animal Model Products

miRNA for PC Gene

miRTarBase miRNAs that target PC

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
cytosol 5
mitochondrion 5
nucleus 2
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 IEA,IDA 16729965
GO:0005759 mitochondrial matrix IEA,TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PC: view

Pathways & Interactions for PC Gene

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

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:0006090 pyruvate metabolic process IEA --
GO:0006094 gluconeogenesis IEA,TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006768 biotin metabolic process TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with PC: view

No data available for SIGNOR curated interactions for PC Gene

Drugs & Compounds for PC Gene

(37) Drugs for PC Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 43
Pyruvic acid Approved Nutra Target 0
Pyruvate Approved Nutra 38
Manganese Approved Nutra 34
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 1974

(37) Additional Compounds for PC Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
Oxalacetic acid
  • 2-Ketosuccinate
  • 2-Ketosuccinic acid
  • 2-Oxobutanedioate
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
genes like me logo Genes that share compounds with PC: view

Transcripts for PC Gene

Unigene Clusters for PC Gene

Pyruvate carboxylase:
Representative Sequences:

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 from GTEx, Illumina, BioGPS, and SAGE for PC Gene

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

This gene is overexpressed in Liver (x11.9).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PC Gene

Protein tissue co-expression partners for PC Gene

NURSA nuclear receptor signaling pathways regulating expression of PC Gene:


SOURCE GeneReport for Unigene cluster for PC Gene:

genes like me logo Genes that share expression patterns with PC: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
(Pan troglodytes)
Mammalia PC 34 35
  • 99.51 (n)
(Canis familiaris)
Mammalia PC 34 35
  • 91.34 (n)
(Bos Taurus)
Mammalia PC 34 35
  • 91.26 (n)
(Mus musculus)
Mammalia Pcx 34 16 35
  • 89.16 (n)
(Rattus norvegicus)
Mammalia Pc 34
  • 88.71 (n)
(Monodelphis domestica)
Mammalia PC 35
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia PC 35
  • 67 (a)
(Anolis carolinensis)
Reptilia PC 35
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pc.2 34
  • 73.32 (n)
Str.11343 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68971 34
(Danio rerio)
Actinopterygii pcxa 35
  • 83 (a)
pcxb 35 34
  • 72.77 (n)
pc 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6644 34
fruit fly
(Drosophila melanogaster)
Insecta CG1516 34 35
  • 69.2 (n)
BcDNA:GH06348 36
  • 68 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004742 34
  • 63.8 (n)
(Caenorhabditis elegans)
Secernentea pyc-1 36 34 35
  • 60.69 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR162C 34
  • 57.15 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PYC1 34 35
  • 54.78 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05764g 34
  • 53.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4573 35
  • 68 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02505 34
  • 58.93 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pyr1 34
  • 53.59 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3275 34
Species where no ortholog for PC was found in the sources mined by GeneCards:
  • 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
rs113994143 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150], Pathogenic 66,863,791(-) AGTTC(C/T)GCGTC reference, missense
rs113994145 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150], Pathogenic 66,851,880(-) GCTCC(A/G)GGAGC reference, missense
rs119103241 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150], Pathogenic 66,871,335(-) GGCCC(A/G)GGCCA reference, missense
rs119103242 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150], Pathogenic 66,852,516(-) TGTGC(A/G/T)CACCC reference, missense
rs28940589 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150], Pathogenic 66,851,944(-) CAGGA(A/G)CCACG reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1971n54 CNV loss 21841781
dgv1972n54 CNV loss 21841781
esv2457482 CNV deletion 19546169
esv25520 CNV gain 19812545
esv2662361 CNV deletion 23128226
esv2670411 CNV deletion 23128226
esv2744643 CNV deletion 23290073
esv32822 CNV gain+loss 17666407
esv3547921 CNV deletion 23714750
esv3626699 CNV loss 21293372
esv3626700 CNV loss 21293372
esv3626701 CNV loss 21293372
esv995385 CNV gain 20482838
esv995606 CNV gain 20482838
nsv1070045 CNV deletion 25765185
nsv1070968 CNV deletion 25765185
nsv1131028 CNV deletion 24896259
nsv1143545 CNV deletion 24896259
nsv468602 CNV loss 19166990
nsv472457 CNV novel sequence insertion 20440878
nsv508638 CNV deletion 20534489
nsv555225 CNV loss 21841781
nsv555226 CNV gain 21841781
nsv555227 CNV gain+loss 21841781
nsv555228 CNV gain 21841781
nsv555230 CNV gain+loss 21841781
nsv555238 CNV loss 21841781
nsv819751 CNV gain 19587683
nsv821590 CNV deletion 20802225
nsv825957 CNV loss 20364138
nsv832194 CNV gain+loss 17160897
nsv951020 CNV deletion 24416366

Variation tolerance for PC Gene

Residual Variation Intolerance Score: 1.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.56; 44.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PC Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for PC Gene

MalaCards: The human disease database

(21) MalaCards diseases for PC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pyruvate carboxylase deficiency
  • pyruvate carboxylase deficiency disease
pyruvate carboxylase deficiency, benign type
  • pyruvate carboxylase deficiency type c
pyruvate carboxylase deficiency, infantile form
  • pyruvate carboxylase deficiency type a
pyruvate carboxylase deficiency, severe neonatal type
  • pyruvate carboxylase deficiency type b
paramyotonia congenita
  • paramyotonia congenita of von eulenburg
- elite association - COSMIC cancer census association via MalaCards
Search PC in MalaCards View complete list of genes associated with diseases


  • 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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PC: view

Publications for PC Gene

  1. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. (PMID: 19306334) Monnot S. … Bonnefont J.-P. (Hum. Mutat. 2009) 3 4 22 64
  2. 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 22 64
  3. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. (PMID: 9585002) Wexler I.D. … Higgins J.J. (Pediatr. Res. 1998) 3 4 22 64
  4. 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 22 64
  5. Primary amino acid sequence and structure of human pyruvate carboxylase. (PMID: 7918683) Wexler I.D. … Kerr D.S. (Biochim. Biophys. Acta 1994) 3 4 22 64

Products for PC Gene

Sources for PC Gene

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