Aliases for PC Gene
Aliases for PC Gene
External Ids for PC Gene
- HGNC: 8636
- Entrez Gene: 5091
- Ensembl: ENSG00000173599
- OMIM: 608786
- UniProtKB: P11498
Previous GeneCards Identifiers for PC Gene
- GC11M069150
- GC11M068297
- GC11M066391
- GC11M066372
- GC11M066615
- GC11M062945
Summaries 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 Radial Neuropathy. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Defective HLCS causes multiple carboxylase deficiency. Gene Ontology (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.
Additional gene information for PC Gene
- Monarch Initiative
- Search for PC at DataMed
- Search for PC at HumanCyc
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
- 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:
-
- STAT3
- ATF
- p53
- STAT1
- PPAR-gamma2
- PPAR-gamma1
- NF-kappaB
- NF-kappaB1
Regulatory Element Products
Genomic Locations for PC Gene
Genomic Locations for PC Gene
- chr11:66,848,233-66,958,376
- (GRCh38/hg38)
- Size:
- 110,144 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:
-
- 11q13.2 by Entrez Gene
- 11q13.2 by HGNC
- 11q13.2 by Ensembl
PC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for PC Gene
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:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PC
- Novus Biologicals Antibodies for PC
-
Abcam antibodies for PC
- Invitrogen Antibodies for PC
- GeneTex PC Antibody for PC
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PC
- Origene Custom Protein Services for PC
- antibodies-online: Search results for 3 available PC Proteins ranked by validation data
- Compare Top PC Proteins
-
Quality Products:
- Search GeneTex for Proteins for PC
-
Abcam proteins for PC
Assay Products
- antibodies-online: Search results for 22 available PC Elisa Kits ranked by validation data
- Compare Top PC Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for PC Gene
Domains & Families for PC Gene
Gene Families for PC Gene
- 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:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for PC Gene
Function for PC Gene
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:
- ATP + pyruvate + HCO(3)(-) = ADP + phosphate + oxaloacetate.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004075 | biotin carboxylase activity | IEA | -- |
| GO:0004736 | pyruvate carboxylase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 23861867 |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for PC Gene
- MGI mutant phenotypes for PC:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PC:
Animal Models for PC Gene
- MGI Knock Outs for PC:
-
- Pcx Pcx<tm1b(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PC
-
CRISPR Products
-
OriGene CRISPR knockouts for PC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PC
- genomics-online: gRNA clones - Search results for available PC gene related products
- Applied Biological Materials CRISPR for PC
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PC
- GenScript: Design CRISPR guide RNA sequences for PC
miRNA for PC Gene
- miRTarBase miRNAs that target PC
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PC
- Browse OriGene Inhibitory RNA Products For PC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PC
- genomics-online: shRNA clones - Search results for available PC gene related products
Clone Products
-
OriGene ORF clones in human for PC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PC
- VectorBuilder custom plasmid, inducible vectors for PC
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PC
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PC
- genomics-online: cdna clones - Search results for available PC gene related products
- orf clones - Search results for available PC gene related products
- Applied Biological Materials Clones for PC
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 5 |
| nucleus | 2 |
| peroxisome | 1 |
- Mitochondria (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | 23861867 |
| GO:0005739 | mitochondrion | IDA,IEA | 16729965 |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for PC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose metabolism |
.46
|
.35
|
| 2 | Metabolism of water-soluble vitamins and cofactors | ||
| 3 | Carbon metabolism | ||
| 4 | Citrate cycle (TCA cycle) | ||
| 5 | Metabolism |
.37
|
|
Pathways by source for PC Gene
6 BioSystems pathways for PC Gene
5 KEGG pathways for PC Gene
1 GeneGo (Thomson Reuters) pathway for PC Gene
UniProtKB/Swiss-Prot P11498-PYC_HUMAN
- Pathway: Carbohydrate biosynthesis; gluconeogenesis.
Interacting Proteins for PC Gene
Selected Interacting proteins:
ENSP00000377527
P11498-PYC_HUMAN
for PC Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for PC
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006090 | pyruvate metabolic process | IEA | -- |
| GO:0006094 | gluconeogenesis | TAS | -- |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006768 | biotin metabolic process | TAS | -- |
| GO:0008152 | metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for PC Gene
Drugs & Compounds for PC Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Biotin | Approved, Investigational | Nutra | Target | 53 | ||
| Pyruvic acid | Approved, Investigational | Nutra | Target | 0 | ||
| Manganese | Approved | Nutra | 37 | |||
| Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2100 | ||
| Phosphoric acid | Approved | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| acetyl-coa |
|
72-89-9 | ||||
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 | |||
| Carbonic acid |
|
463-79-6 |
|
|||
| Oxalacetic acid |
|
328-42-7 |
|
|||
| Phosphate |
|
14265-44-2 |
|
Drug Products
Transcripts for PC Gene
mRNA/cDNA for PC Gene
- (14) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (126) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000529047 1607 bps (uc058ebs.1)
- ENST00000393955 4004 bps (uc001ojn.2)
- ENST00000393958 4005 bps (uc001ojp.2)
- ENST00000528224 1008 bps (uc058ebt.1)
- ENST00000529352 291 bps (uc058ebu.1)
Unigene Clusters for PC Gene
- Pyruvate carboxylase:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PC
- genomics-online: gRNA clones - Search results for available PC gene related products
- Applied Biological Materials CRISPR for PC
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PC
- GenScript: Design CRISPR guide RNA sequences for PC
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PC
- Browse OriGene Inhibitory RNA Products For PC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PC
- genomics-online: shRNA clones - Search results for available PC gene related products
Clone Products
-
OriGene ORF clones in human for PC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PC
- VectorBuilder custom plasmid, inducible vectors for PC
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PC
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PC
- genomics-online: cdna clones - Search results for available PC gene related products
- orf clones - Search results for available PC gene related products
- Applied Biological Materials Clones for PC
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for PC Gene
mRNA differential expression in normal tissues according to GTEx for PC Gene
This gene is overexpressed in Liver (x11.9).
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
NURSA nuclear receptor signaling pathways regulating expression of PC Gene:
PCSOURCE GeneReport for Unigene cluster for PC Gene:
Hs.89890Evidence 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
Primer Products
-
OriGene qPCR primer pairs and template standards for PC
-
OriGene qPCR primer pairs for PC
- genomics-online: primer clones - Search results for available PC gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PC 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PC 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PC 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pcx 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pc 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PC 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PC 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PC 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pc.2 33 |
|
||
| Str.11343 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68971 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pcxa 34 |
|
OneToMany | |
| pcxb 34 33 |
|
OneToMany | |||
| pc 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6644 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG1516 34 33 |
|
OneToOne | |
| BcDNA:GH06348 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004742 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | pyc-1 34 35 33 |
|
OneToOne | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AAR162C 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PYC1 34 33 |
|
OneToOne | |
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C05764g 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4573 34 |
|
OneToOne | |
| Cin.3275 33 |
|
||||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU02505 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pyr1 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3275 33 |
|
- 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
(3) SIMAP similar genes for PC Gene using alignment to 5 proteins:
- PYC_HUMAN
- B4DN00_HUMAN
- E9PRE7_HUMAN
- E9PS68_HUMAN
- L8E6S8_HUMAN
No data available for Paralogs for PC Gene
Variants for PC Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1049344483 | uncertain-significance, Pyruvate carboxylase deficiency | 66,958,376(-) | C/T | 5_prime_UTR_variant, genic_upstream_transcript_variant | |
| 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 | |
| rs1131855 | benign, Pyruvate carboxylase deficiency | 66,849,961(-) | C/A/T | coding_sequence_variant, synonymous_variant | |
| rs113994141 | pathogenic, Pyruvate carboxylase deficiency | 66,871,824(-) | G/A | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PC Gene
Disorders for PC Gene
(12) MalaCards diseases for PC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pyruvate carboxylase deficiency |
|
|
| radial neuropathy |
|
|
| holocarboxylase synthetase deficiency |
|
|
| lactic acidosis |
|
|
| biotin deficiency |
|
|
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
Publications for PC Gene
- Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. (PMID: 19306334) Monnot S … Bonnefont JP (Human mutation 2009) 3 4 22 58
- 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 22 58
- Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. (PMID: 9585002) Wexler ID … Higgins JJ (Pediatric research 1998) 3 4 22 58
- 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 22 58
- Primary amino acid sequence and structure of human pyruvate carboxylase. (PMID: 7918683) Wexler ID … Kerr DS (Biochimica et biophysica acta 1994) 3 4 22 58
Products for PC Gene
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- Browse R&D Systems for biochemical assays
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- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for PC
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for PC
- Origene Custom Protein Services for PC
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PC
- Browse OriGene Inhibitory RNA Products For PC
- OriGene qPCR primer pairs and template standards for PC
- OriGene qPCR primer pairs for PC
- OriGene CRISPR knockouts for PC
- OriGene ORF clones in human for PC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PC
- GenScript: Next-day shipping of latest version cDNA ORF clones for PC in any vector
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- GenScript Custom overexpressing Cell Line Services for PC
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- Design optimal peptide antigens
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- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PC
- Sino Biological Human cDNA Clone for PC
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- Browse cDNA Clones
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PC
- Novus Biologicals lysates and proteins for PC
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for PC
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- VectorBuilder custom plasmid, inducible vectors for PC
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PC
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PC
- antibodies-online: Search results for 80 available PC Antibodies ranked by validation data
- Compare Top PC Antibodies
- antibodies-online: Search results for 22 available PC Elisa Kits ranked by validation data
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- antibodies-online: Search results for 3 available PC Proteins ranked by validation data
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- GeneTex PC Antibody for PC
- Search GeneTex for Proteins for PC
- Search Santa Cruz Biotechnology (SCBT) for PC siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PC
- Horizon Cell Lines for PC
- genomics-online: cdna clones - Search results for available PC gene related products
- orf clones - Search results for available PC gene related products
- genomics-online: gRNA clones - Search results for available PC gene related products
- genomics-online: primer clones - Search results for available PC gene related products
- genomics-online: shRNA clones - Search results for available PC gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PC
- GeneCopoeia miRNA 3'UTR Target clone products for PC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PC
Sources for PC Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt