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PC Gene(Protein Coding)

Pyruvate Carboxylase

GCID:
GC11M066865
GIFtS:
53
Genes Participants
UDN Logo

Aliases for PC Gene

Aliases for PC Gene

  • Pyruvate Carboxylase 2 3 5
  • Pyruvate Carboxylase, Mitochondrial 3 4
  • Pyruvic Carboxylase 3 4
  • EC 6.4.1.1 4 56
  • PCB 3 4
  • EC 6.4.1 56

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 Biotin Deficiency. Among its related pathways are Amino Acid metabolism and Glucose metabolism. Gene Ontology (GO) annotations related to this gene include ligase activity and biotin carboxylase activity. An important paralog of this gene is ACACA.

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.

Additional gene information for PC Gene

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

Genomics for PC Gene

GeneHancer (GH) Regulatory Elements for PC Gene

Promoters and enhancers for PC Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J066957 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.3 298 3.3 HDGF SP1 ELF3 MNT CBFA2T2 ZNF148 ZNF121 RERE GTF2F1 FOS PC RBM14 RBM4 KDM2A EIF1AD ENSG00000254461 RCE1 RAD9A ENSG00000254855 SF3B2
GH11J066903 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 625.4 +51.8 51830 5.6 ZNF652 ELF3 POLR2A RERE ZNF24 MAFK TFE3 SP7 SP1 PPARG PC GC11M066908 GC11M066909 C11orf80 RHOD ACTN3 CTSF RIN1 C11orf86 LRFN4
GH11J066955 Promoter 0.7 EPDnew 600.7 +3.9 3928 0.1 SCRT2 SCRT1 PC LOC105369355
GH11J066727 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE 18.5 +230.2 230239 2.4 ZFX CBFA2T2 ZNF148 MLLT1 GTF2F1 TRIM24 SP1 EGR1 SMARCA4 MTA1 SPTBN2 PC EFEMP2 MRPL11 SYT12 GC11M066719 GC11M066718
GH11J066841 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 14.5 +115.1 115082 3.6 SP1 ZFX ELF3 MNT SIX5 ZNF148 NKRF POLR2A GTF2F1 ZNF687 C11orf80 RCE1 MRPL11 CTSF ACTN3 PC EFEMP2 ENSG00000254855 CDK2AP2 RIN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PC gene promoter:
  • ATF
  • NF-kappaB
  • NF-kappaB1
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • STAT3

Genomic Locations for PC Gene

Genomic Locations for PC Gene
chr11:66,848,417-66,958,439
(GRCh38/hg38)
Size:
110,023 bases
Orientation:
Minus strand
chr11:66,615,704-66,725,847
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for PC Gene

Proteins for PC Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 (PubMed:18297087). Interacts (via the biotin carboxylation domain) with SIRT4 (PubMed:23438705).

    Three dimensional structures from OCA and Proteopedia for PC Gene

    Alternative splice isoforms for PC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PC Gene

Protein Expression for PC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PC Gene

P11498:
  • SGMTSQPS
  • RLQVEHTVTEEIT
  • GGGGRGMR
  • QRRHQKVVE
  • LLGMEAAGSAGGVVEAAISYTGDV
  • RVTTEDP
  • ISPHYDS
  • SLHEAHEFSNT
  • HTHDTSG
  • WGGATFDV
  • KVMVANRGEIAIRVFRA
  • VLSAMKME
  • GFRDILLREGPEGFARAVRNH
  • AGTVEFL
  • NRAQKLL
  • VGDLAQF
  • PNIPFQMLLRGAN
  • GRIEVFRSGEGMGIRLD
  • IGAPMPG
  • MHRQKADE
  • NAVGYTNYPDNV
  • RDAHQSLLATR

Post-translational modifications for PC Gene

  • Acetylation of Lys-748 might play a role in catalytic activity regulation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PC Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PC Gene

Gene Families for PC Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PC Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PC Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60715, highly similar to Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (B4DN00_HUMAN)
  • Pyruvic carboxylase (PYC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for PC Gene

Function for PC Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PC Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + hydrogencarbonate + pyruvate = ADP + H(+) + oxaloacetate + phosphate; Xref=Rhea:RHEA:20844, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16452, ChEBI:CHEBI:17544, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=6.4.1.1;.
GENATLAS Biochemistry:
pyruvate carboxylase,biotin dependent,mitochondrial conversion of pyruvate to oxalocetate,branched chain,valine catabolism,gluconeogenesis,energy pathway

Enzyme Numbers (IUBMB) for PC Gene

Phenotypes From GWAS Catalog for PC Gene

Gene Ontology (GO) - Molecular Function for PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004736 pyruvate carboxylase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 23861867
GO:0005524 ATP binding IEA --
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 Pcx<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for PC Gene

miRTarBase miRNAs that target PC

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PC

Clone Products

  • Applied Biological Materials (abm): Clones for PC - Now 50% OFF >
  • * PC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PC tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PC gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
See all subcellular structures

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 16729965
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PC: view

Pathways & Interactions for PC Gene

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
genes like me logo Genes that share pathways with PC: view

UniProtKB/Swiss-Prot P11498-PYC_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

SIGNOR curated interactions for PC Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process IEA,IBA 21873635
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

Drugs & Compounds for PC Gene

Products:

  1. Drug
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved, Investigational Nutra Target 58
Pyruvic acid Approved, Investigational Nutra Target 0
Manganese Approved Nutra 41
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2309
Phosphoric acid Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
 72-89-9
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
 71-52-3, 463-79-6
Oxalacetic acid
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinic acid
  • 3-Carboxy-3-oxopropanoic acid
  • keto-Succinic acid
  • Ketosuccinic acid
 328-42-7
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
 14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with PC: view

Transcripts for PC Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PC Gene

(3) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(126) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for PC Gene

Pyruvate carboxylase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PC

Clone Products

  • Applied Biological Materials (abm): Clones for PC - Now 50% OFF >
  • * PC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PC tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for PC

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

Products:

  1. Primer
  2. Gene Expression Assay
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PC Gene

mRNA expression in normal human tissues for PC Gene
mRNA expression by GTEx for PC GenemRNA expression by BioGPS 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, MaxQB, and MOPED for PC Gene



Protein tissue co-expression partners for PC Gene

NURSA nuclear receptor signaling pathways regulating expression of PC Gene:

PC

SOURCE GeneReport for Unigene cluster for PC Gene:

Hs.89890

Evidence on tissue expression from TISSUES for PC Gene

  • Lung(4.8)
  • Liver(4.7)
  • Kidney(4.6)
  • Adrenal gland(2.6)
  • Pancreas(2.6)
  • Nervous system(2.5)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • liver
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PC: view

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 34
  • 99.51 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PC 35 34
  • 91.34 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia PC 35 34
  • 91.26 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pcx 17 35 34
  • 89.16 (n)
rat
(Rattus norvegicus)
 Mammalia Pc 34
  • 88.71 (n)
oppossum
(Monodelphis domestica)
 Mammalia PC 35
  • 88 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PC 35
  • 67 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PC 35
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pc.2 34
  • 73.32 (n)
Str.11343 34
African clawed frog
(Xenopus laevis)
 Amphibia MGC68971 34
zebrafish
(Danio rerio)
 Actinopterygii pcxa 35
  • 83 (a)
 OneToMany
pcxb 35 34
  • 72.77 (n)
 OneToMany
pc 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6644 34
fruit fly
(Drosophila melanogaster)
 Insecta CG1516 35 34
  • 69.2 (n)
 OneToOne
BcDNA:GH06348 36
  • 68 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004742 34
  • 63.8 (n)
worm
(Caenorhabditis elegans)
 Secernentea pyc-1 35 36 34
  • 60.69 (n)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AAR162C 34
  • 57.15 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PYC1 35 34
  • 54.78 (n)
 OneToOne
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C05764g 34
  • 53.63 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.4573 35
  • 68 (a)
 OneToOne
Cin.3275 34
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

ENSEMBL:
Gene Tree for PC (if available)
TreeFam:
Gene Tree for PC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PC: view image

Paralogs for PC Gene

Paralogs for PC Gene

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

  • PYC_HUMAN
  • B4DN00_HUMAN
  • E9PRE7_HUMAN
  • E9PS68_HUMAN
  • L8E6S8_HUMAN
genes like me logo Genes that share paralogs with PC: view

Variants for PC Gene

Products:

  1. SNP Genotyping and Copy Number Assay
VarElect - NGS phenotyper. Rapid prioritization of variants from NGS data powered by 100+ GeneCards sources

Sequence variations from dbSNP and Humsavar for PC Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1051704 benign, Pyruvate carboxylase deficiency 66,866,318(-) C/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1051707 benign, Pyruvate carboxylase deficiency 66,850,861(-) G/A/C coding_sequence_variant, synonymous_variant
rs1057520687 likely-pathogenic, uncertain-significance, not provided, Pyruvate carboxylase deficiency 66,866,191(-) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs111858832 uncertain-significance, likely-benign, Pyruvate carboxylase deficiency, not specified 66,866,363(-) G/A/C/T genic_upstream_transcript_variant, intron_variant
rs1131855 benign, Pyruvate carboxylase deficiency 66,849,961(-) C/A/T coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for PC Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PC Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pyruvate carboxylase deficiency
  • pc deficiency
biotin deficiency
  • b7 deficiency
holocarboxylase synthetase deficiency
  • hlcs deficiency
lactic acidosis
  • acidosis lactic
hyperlysinemia, type i
  • lysine:alpha-ketoglutarate reductase deficiency
- 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

Additional Disease Information for PC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 JP (Human mutation 2009) 3 4 23 58
  2. Crystal structures of human and Staphylococcus aureus pyruvate carboxylase and molecular insights into the carboxyltransfer reaction. (PMID: 18297087) Xiang S … Tong L (Nature structural & molecular biology 2008) 3 4 23 58
  3. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. (PMID: 9585002) Wexler ID … Higgins JJ (Pediatric research 1998) 3 4 23 58
  4. Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. (PMID: 9585612) Carbone MA … Robinson BH (American journal of human genetics 1998) 3 4 23 58
  5. Primary amino acid sequence and structure of human pyruvate carboxylase. (PMID: 7918683) Wexler ID … Kerr DS (Biochimica et biophysica acta 1994) 3 4 23 58

ExternalLinks

View latest publications for PC gene in Mastermind

Products for PC Gene

  • Invitrogen Antibodies for PC (AFLGC-PC)
  • Addgene plasmids for PC

Sources for PC Gene

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