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Aliases for PC Gene

Aliases for PC Gene

  • Pyruvate Carboxylase 2 3 5
  • Pyruvic Carboxylase 3 4
  • EC 6.4.1.1 4 63
  • PCB 3 4
  • 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 thrombophilia due to protein c deficiency, autosomal dominant. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. 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

Promoters for PC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PC on UCSC Golden Path with GeneCards custom track

Genomic Location for PC Gene

Chromosome:
11
Start:
66,848,233 bp from pter
End:
66,958,376 bp from pter
Size:
110,144 bases
Orientation:
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:
    P11498-PYC_HUMAN
    Recommended name:
    Pyruvate carboxylase, mitochondrial
    Protein Accession:
    P11498
    Secondary Accessions:
    • B4DN00
    • Q16705

    Protein attributes for PC Gene

    Size:
    1178 amino acids
    Molecular mass:
    129634 Da
    Cofactor:
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

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

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

P11498

UniProtKB/Swiss-Prot:

PYC_HUMAN :
  • Contains 1 ATP-grasp domain.
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:0009374 biotin binding IEA --
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

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

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

No data available for Gene Ontology (GO) - Cellular Components for PC Gene

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:0006006 glucose metabolic process TAS --
GO:0006090 pyruvate metabolic process IEA --
GO:0006107 oxaloacetate metabolic process IEA --
GO:0006766 vitamin metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 36
Pyruvic acid Approved Nutra Target 0
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 1881
Zinc Approved Pharma 1477
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
ADP
  • 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
463-79-6
Oxalacetic acid
  • 2-Ketosuccinate
  • 2-Ketosuccinic acid
  • 2-Oxobutanedioate
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinate
328-42-7
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with PC: view

Transcripts for PC Gene

Unigene Clusters for PC Gene

Pyruvate carboxylase:
Representative Sequences:

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: - - -
SP4:
SP5: -
SP6:

ExUns: 23b ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for PC Gene

GeneLoc Exon Structure for
PC
ECgene alternative splicing isoforms for
PC

Expression for PC Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for PC Gene



SOURCE GeneReport for Unigene cluster for PC Gene Hs.89890

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

Protein tissue co-expression partners for PC Gene

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia PC 35
  • 99.51 (n)
  • 99.74 (a)
PC 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PC 36
  • 97 (a)
OneToOne
PC 35
  • 91.26 (n)
  • 97.2 (a)
dog
(Canis familiaris)
Mammalia PC 35
  • 91.34 (n)
  • 97.71 (a)
PC 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcx 36
  • 97 (a)
OneToOne
Pcx 16
Pcx 35
  • 89.16 (n)
  • 96.77 (a)
oppossum
(Monodelphis domestica)
Mammalia PC 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PC 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pc 35
  • 88.71 (n)
  • 96.35 (a)
lizard
(Anolis carolinensis)
Reptilia PC 36
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68971 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pc.2 35
  • 73.32 (n)
  • 86.62 (a)
Str.11343 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6644 35
zebrafish
(Danio rerio)
Actinopterygii pc 35
pcxb 35
  • 72.77 (n)
  • 83.76 (a)
pcxa 36
  • 83 (a)
OneToMany
pcxb 36
  • 83 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004742 35
  • 63.8 (n)
  • 69.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH06348 37
  • 68 (a)
CG1516 36
  • 66 (a)
OneToOne
CG1516 35
  • 69.2 (n)
  • 69.31 (a)
worm
(Caenorhabditis elegans)
Secernentea pyc-1 37
  • 65 (a)
pyc-1 36
  • 64 (a)
OneToOne
pyc-1 35
  • 60.69 (n)
  • 65.65 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR162C 35
  • 57.15 (n)
  • 54.63 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PYC1 35
  • 54.78 (n)
  • 54.75 (a)
PYC1 36
  • 53 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05764g 35
  • 53.63 (n)
  • 54.1 (a)
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 intestinalis)
Ascidiacea Cin.3275 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4573 36
  • 68 (a)
OneToOne
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

ENSEMBL:
Gene Tree for PC (if available)
TreeFam:
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
rs28940589 Pyruvate carboxylase deficiency (PC deficiency) 66,851,944(-) CAGGA(A/G)CCACG reference, missense
rs28940590 Pyruvate carboxylase deficiency (PC deficiency) 66,850,918(-) GACAT(G/T)GCCGG reference, missense
rs28940591 Pyruvate carboxylase deficiency (PC deficiency) 66,871,368(+) AGAAG(A/C/G/T)GGTCC reference, missense
VAR_015200 Pyruvate carboxylase deficiency (PC deficiency)
rs7104156 - 66,871,781(+) GCCGG(A/T)GCATC reference, missense

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

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

HapMap Linkage Disequilibrium report
PC
Human Gene Mutation Database (HGMD)
PC

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

Disorders for PC Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pyruvate carboxylase deficiency
  • pyruvate carboxylase deficiency disease
thrombophilia due to protein c deficiency, autosomal dominant
  • proc deficiency autosomal dominant
thrombophilia due to protein c deficiency, autosomal recessive
  • proc deficiency autosomal recessive
pyruvate carboxylase deficiency, benign type
  • pyruvate carboxylase deficiency type c
pyruvate carboxylase deficiency, infantile form
  • pyruvate carboxylase deficiency type a
- elite association - COSMIC cancer census association via MalaCards
Search PC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PYC_HUMAN
  • 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)
PC
Human Genome Epidemiology (HuGE) Navigator
PC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PC
genes like me logo Genes that share disorders with PC: view

Publications for PC Gene

  1. Molecular cloning of a cDNA for human pyruvate carboxylase. Structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes. (PMID: 6548474) Freytag S.O. … Collier K.J. (J. Biol. Chem. 1984) 2 3 4 67
  2. Effect of biotin on activity and gene expression of biotin-dependent carboxylases in the liver of dairy cows. (PMID: 17297119) Ferreira G. … Weiss W.P. (J. Dairy Sci. 2007) 23 25 26
  3. Detection of 6-nitrotryptophan in proteins by Western blot analysis and its application for peroxynitrite-treated PC12 cells. (PMID: 16765071) Ikeda K. … Yamakura F. (Nitric Oxide 2007) 23 25 26
  4. Anaplerotic roles of pyruvate carboxylase in mammalian tissues. (PMID: 16505973) Jitrapakdee S. … Wallace J.C. (Cell. Mol. Life Sci. 2006) 23 25 26
  5. Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes. (PMID: 19296078) MacDonald M.J. … Ostenson C.G. (Diabetologia 2009) 3 23

Products for PC Gene

Sources for PC Gene

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