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PC (pyruvate carboxylase)

Identity

Alias_symbol (synonym)PCB
Other alias
HGNC (Hugo) PC
LocusID (NCBI) 5091
Atlas_Id 55165
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 66848526 and ends at 66958376 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHKA (11q13.2) / PC (11q13.2)HNRNPM (19p13.2) / PC (11q13.2)PC (11q13.2) / DCDC2 (6p22.3)
PC (11q13.2) / MIEN1 (17q12)PC (11q13.2) / PC (11q13.2)PC (11q13.2) / PPP6R3 (11q13.2)
PC (11q13.2) / SLC9A8 (20q13.13)PC (11q13.2) / THRSP (11q14.1)CHKA 11q13.2 / PC 11q13.2
HNRNPM 19p13.2 / PC 11q13.2PC 11q13.2 / DCDC2 6p22.3PC 11q13.2 / PPP6R3 11q13.2
PC 11q13.2 / THRSP 11q14.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PC   8636
Cards
Entrez_Gene (NCBI)PC  5091  pyruvate carboxylase
AliasesPCB
GeneCards (Weizmann)PC
Ensembl hg19 (Hinxton)ENSG00000173599 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173599 [Gene_View]  chr11:66848526-66958376 [Contig_View]  PC [Vega]
ICGC DataPortalENSG00000173599
TCGA cBioPortalPC
AceView (NCBI)PC
Genatlas (Paris)PC
WikiGenes5091
SOURCE (Princeton)PC
Genetics Home Reference (NIH)PC
Genomic and cartography
GoldenPath hg38 (UCSC)PC  -     chr11:66848526-66958376 -  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PC  -     11q13.2   [Description]    (hg19-Feb_2009)
EnsemblPC - 11q13.2 [CytoView hg19]  PC - 11q13.2 [CytoView hg38]
Mapping of homologs : NCBIPC [Mapview hg19]  PC [Mapview hg38]
OMIM266150   608786   
Gene and transcription
Genbank (Entrez)AK297705 BC011617 CN267865 DA542083 K02282
RefSeq transcript (Entrez)NM_000920 NM_001040716 NM_022172
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PC
Cluster EST : UnigeneHs.89890 [ NCBI ]
CGAP (NCI)Hs.89890
Alternative Splicing GalleryENSG00000173599
Gene ExpressionPC [ NCBI-GEO ]   PC [ EBI - ARRAY_EXPRESS ]   PC [ SEEK ]   PC [ MEM ]
Gene Expression Viewer (FireBrowse)PC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5091
GTEX Portal (Tissue expression)PC
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11498   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11498  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11498
Splice isoforms : SwissVarP11498
Catalytic activity : Enzyme6.4.1.1 [ Enzyme-Expasy ]   6.4.1.16.4.1.1 [ IntEnz-EBI ]   6.4.1.1 [ BRENDA ]   6.4.1.1 [ KEGG ]   
PhosPhoSitePlusP11498
Domaine pattern : Prosite (Expaxy)ATP_GRASP (PS50975)    BC (PS50979)    BIOTIN (PS00188)    BIOTINYL_LIPOYL (PS50968)    PYR_CT (PS50991)   
Domains : Interpro (EBI)###############################################################################################################################################################################################################################################################                                                                   
Domain families : Pfam (Sanger)Biotin_carb_C (PF02785)    Biotin_carb_N (PF00289)    Biotin_lipoyl (PF00364)    CPSase_L_D2 (PF02786)    HMGL-like (PF00682)    PYC_OADA (PF02436)   
Domain families : Pfam (NCBI)pfam02785    pfam00289    pfam00364    pfam02786    pfam00682    pfam02436   
Domain families : Smart (EMBL)Biotin_carb_C (SM00878)  
Conserved Domain (NCBI)PC
DMDM Disease mutations5091
Blocks (Seattle)PC
PDB (SRS)3BG3    3BG9   
PDB (PDBSum)3BG3    3BG9   
PDB (IMB)3BG3    3BG9   
PDB (RSDB)3BG3    3BG9   
Structural Biology KnowledgeBase3BG3    3BG9   
SCOP (Structural Classification of Proteins)3BG3    3BG9   
CATH (Classification of proteins structures)3BG3    3BG9   
SuperfamilyP11498
Human Protein AtlasENSG00000173599
Peptide AtlasP11498
HPRD02032
IPIIPI00299402   IPI00909014   IPI00975989   
Protein Interaction databases
DIP (DOE-UCLA)P11498
IntAct (EBI)P11498
FunCoupENSG00000173599
BioGRIDPC
STRING (EMBL)PC
ZODIACPC
Ontologies - Pathways
QuickGOP11498
Ontology : AmiGObiotin carboxylase activity  pyruvate carboxylase activity  protein binding  ATP binding  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  pyruvate metabolic process  gluconeogenesis  gluconeogenesis  lipid metabolic process  biotin metabolic process  biotin binding  negative regulation of gene expression  viral RNA genome packaging  positive regulation by host of viral release from host cell  positive regulation by host of viral process  metal ion binding  
Ontology : EGO-EBIbiotin carboxylase activity  pyruvate carboxylase activity  protein binding  ATP binding  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  pyruvate metabolic process  gluconeogenesis  gluconeogenesis  lipid metabolic process  biotin metabolic process  biotin binding  negative regulation of gene expression  viral RNA genome packaging  positive regulation by host of viral release from host cell  positive regulation by host of viral process  metal ion binding  
Pathways : BIOCARTAShuttle for transfer of acetyl groups from mitochondria to the cytosol [Genes]   
Pathways : KEGGCitrate cycle (TCA cycle)    Pyruvate metabolism   
NDEx NetworkPC
Atlas of Cancer Signalling NetworkPC
Wikipedia pathwaysPC
Orthology - Evolution
OrthoDB5091
GeneTree (enSembl)ENSG00000173599
Phylogenetic Trees/Animal Genes : TreeFamPC
HOVERGENP11498
HOGENOMP11498
Homologs : HomoloGenePC
Homology/Alignments : Family Browser (UCSC)PC
Gene fusions - Rearrangements
Fusion : MitelmanCHKA/PC [11q13.2/11q13.2]  [t(11;11)(q13;q13)]  
Fusion : MitelmanHNRNPM/PC [19p13.2/11q13.2]  [t(11;19)(q13;p13)]  
Fusion : MitelmanPC/DCDC2 [11q13.2/6p22.3]  [t(6;11)(p22;q13)]  
Fusion : MitelmanPC/PPP6R3 [11q13.2/11q13.2]  [t(11;11)(q13;q13)]  
Fusion : MitelmanPC/THRSP [11q13.2/11q14.1]  [t(11;11)(q13;q14)]  
Fusion: TCGACHKA 11q13.2 PC 11q13.2 BRCA
Fusion: TCGAHNRNPM 19p13.2 PC 11q13.2 HNSC
Fusion: TCGAPC 11q13.2 DCDC2 6p22.3 BRCA
Fusion: TCGAPC 11q13.2 PPP6R3 11q13.2 BRCA
Fusion: TCGAPC 11q13.2 THRSP 11q14.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PC
dbVarPC
ClinVarPC
1000_GenomesPC 
Exome Variant ServerPC
ExAC (Exome Aggregation Consortium)PC (select the gene name)
Genetic variants : HAPMAP5091
Genomic Variants (DGV)PC [DGVbeta]
DECIPHERPC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPC 
Mutations
ICGC Data PortalPC 
TCGA Data PortalPC 
Broad Tumor PortalPC
OASIS PortalPC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPC
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PC
DgiDB (Drug Gene Interaction Database)PC
DoCM (Curated mutations)PC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PC (select a term)
intoGenPC
Cancer3DPC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM266150    608786   
Orphanet22136    22134    22135   
MedgenPC
Genetic Testing Registry PC
NextProtP11498 [Medical]
TSGene5091
GENETestsPC
Target ValidationPC
Huge Navigator PC [HugePedia]
snp3D : Map Gene to Disease5091
BioCentury BCIQPC
ClinGenPC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5091
Chemical/Pharm GKB GenePA32975
Clinical trialPC
Miscellaneous
canSAR (ICR)PC (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePC
EVEXPC
GoPubMedPC
iHOPPC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:48:38 CEST 2017

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