PC Gene (Protein Coding)

Pyruvate Carboxylase

GC11M066848
GIFtS:
48
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... See more...

Aliases for PC Gene

Aliases for PC Gene

  • Pyruvate Carboxylase 2 3 5
  • PCB 2 3 4
  • Pyruvate Carboxylase, Mitochondrial 3 4
  • Pyruvic Carboxylase 3 4
  • EC 6.4.1.1 4 51
  • EC 6.4.1 51
  • PC 5

External Ids for PC Gene

Previous GeneCards Identifiers for PC Gene

  • GC11M069150
  • GC11M068297
  • GC11M066865
  • 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 Lactic Acidosis. Among its related pathways are Glucose metabolism and HIV Life Cycle. 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 Summary 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 , Rfam classification and piRNA Summary for PC Gene

Genomics for PC Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 CraniofacialAtlas dbSUPER 250.7 +0.5 517 3 CHD2 TBP SP1 MXD4 MNT MBD2 BHLHE40 ELF1 CTCF NONO PC lnc-SPTBN2-6 RBM14 RBM4 RCE1 RAD9A ENSG00000245156 ENSG00000255038 KDM2A SF3B2
GH11J066903 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 275.3 +51.9 51909 5.8 IKZF1 KDM6A ZNF623 FOXA2 ZNF511 MAFF SMAD4 SAP130 ZNF341 RXRA PC HSALNG0085090 C11orf80 RHOD ACTN3 CTSF RIN1 C11orf86 LRFN4 SYT12
GH11J066955 Promoter 0.4 EPDnew 250.7 +3.9 3907 0.1 SCRT1 LOC105369355 PC piR-52079-036 lnc-SPTBN2-6 LRFN4
GH11J066727 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas 18.5 +230.2 230218 2.4 TBP MNT IKZF1 SMAD5 BHLHE40 ELF1 NONO ZIC2 ZNF623 SIN3A SPTBN2 HSALNG0085064 lnc-RBM4B-4 PC EFEMP2 MRPL11 SYT12 RBM4B
GH11J066841 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 14.5 +115.1 115061 3.6 CHD2 TBP SP1 SIX5 NR2C1 DEK SMAD5 ETS1 IRF2 MBD2 C11orf80 HSALNG0085087 RCE1 lnc-PC-2 CTSF ACTN3 BBS1 PC ENSG00000254461 RBM4B
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PC

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

Latest Assembly
chr11:66,848,417-66,958,418
(GRCh38/hg38)
Size:
110,002 bases
Orientation:
Minus strand

Previous Assembly
chr11:66,615,891-66,725,854
(GRCh37/hg19 by Entrez Gene)
Size:
109,964 bases
Orientation:
Minus strand

chr11:66,615,704-66,725,847
(GRCh37/hg19 by Ensembl)
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. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

InterPro:
Blocks:
  • Biotin-requiring enzyme, attachment site
  • Conserved carboxylase region
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)
genes like me logo Genes that share domains with PC: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PC Gene

Function for PC Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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: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 --
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 Models for research

miRNA for PC Gene

miRTarBase miRNAs that target PC

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 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 IEA,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

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 IBA 21873635
GO:0006094 gluconeogenesis 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 products for research

(36) 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, cofactor 67
Pyruvic acid Approved, Investigational Nutra Target 0
Manganese Approved Nutra 64
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2568
Zinc Approved, Investigational Pharma 1687

(37) 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
 58-64-0
Hydrogen carbonate
  • [CO(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Dihydrogen carbonic acid
 71-52-3
Oxalacetic acid
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinic acid
  • 3-Carboxy-3-oxopropanoic acid
  • Keto-succinic acid
  • Ketosuccinic acid
 328-42-7
genes like me logo Genes that share compounds with PC: view

Transcripts for PC Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for PC Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Expression for PC Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Adrenal gland(3.1)
  • Nervous system(2.9)
  • Pancreas(2.8)
  • Skin(2.6)
  • Eye(2.5)
  • Muscle(2.4)
  • Intestine(2.4)
  • Heart(2.3)
  • Stomach(2.2)
  • Thyroid gland(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

Primer products for research

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 30 31
  • 99.51 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PC 30 31
  • 91.34 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PC 30 31
  • 91.26 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pcx 30 17 31
  • 89.16 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pc 30
  • 88.71 (n)
Oppossum
(Monodelphis domestica)
 Mammalia PC 31
  • 88 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PC 31
  • 67 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PC 31
  • 85 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pc.2 30
  • 73.32 (n)
Str.11343 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC68971 30
Zebrafish
(Danio rerio)
 Actinopterygii pcxa 31
  • 83 (a)
 OneToMany
pcxb 30 31
  • 72.77 (n)
 OneToMany
pc 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6644 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG1516 30 31
  • 69.2 (n)
 OneToOne
BcDNA:GH06348 32
  • 68 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004742 30
  • 63.8 (n)
Worm
(Caenorhabditis elegans)
 Secernentea pyc-1 30 31 32
  • 60.69 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AAR162C 30
  • 57.15 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PYC1 30 31
  • 54.78 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C05764g 30
  • 53.63 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.4573 31
  • 68 (a)
 OneToOne
Bread mold
(Neurospora crassa)
 Ascomycetes NCU02505 30
  • 58.93 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes pyr1 30
  • 53.59 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.3275 30
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 Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PC Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
877797 Benign: Pyruvate carboxylase deficiency 66,848,793(-) C/A
NM_001040716.2(PC):c.*106G>T 		THREE_PRIME_UTR
877798 Uncertain Significance: Pyruvate carboxylase deficiency 66,848,798(-) C/T
NM_001040716.2(PC):c.*101G>A 		THREE_PRIME_UTR
877799 Uncertain Significance: Pyruvate carboxylase deficiency 66,848,810(-) C/T
NM_001040716.2(PC):c.*89G>A 		THREE_PRIME_UTR
877800 Uncertain Significance: Pyruvate carboxylase deficiency 66,848,811(-) C/T
NM_001040716.2(PC):c.*88G>A 		THREE_PRIME_UTR
877857 Uncertain Significance: Pyruvate carboxylase deficiency 66,850,866(-) C/T
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

SNP Genotyping and Copy Number Assays for research

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: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
pyruvate carboxylase deficiency
  • pc deficiency
lactic acidosis
  • acidosis lactic
holocarboxylase synthetase deficiency
  • hlcs deficiency
biotin deficiency
  • b7 deficiency
multiple carboxylase deficiency
  • mcd
- 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 variants 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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PC: view

Publications for PC Gene

  1. 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 74
  2. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. (PMID: 19306334) Monnot S … Bonnefont JP (Human mutation 2009) 3 4 23
  3. 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
  4. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. (PMID: 9585002) Wexler ID … Higgins JJ (Pediatric research 1998) 3 4 23
  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

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