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PCK1 (phosphoenolpyruvate carboxykinase 1)

Identity

Alias_namesphosphoenolpyruvate carboxykinase 1 (soluble)
Alias_symbol (synonym)PEPCK-C
Other aliasPEPCK1
PEPCKC
HGNC (Hugo) PCK1
LocusID (NCBI) 5105
Atlas_Id 52227
Location 20q13.31  [Link to chromosome band 20q13]
Location_base_pair Starts at 56136137 and ends at 56141513 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AURKA (20q13.2) / PCK1 (20q13.31)PCK1 (20q13.31) / AMY2B (1p21.1)PCK1 (20q13.31) / PAPPA2 (1q25.2)
PCK1 (20q13.31) / PCK1 (20q13.31)AURKA 20q13.2 / PCK1 20q13.31

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)PCK1   8724
Cards
Entrez_Gene (NCBI)PCK1  5105  phosphoenolpyruvate carboxykinase 1
AliasesPEPCK-C; PEPCK1; PEPCKC
GeneCards (Weizmann)PCK1
Ensembl hg19 (Hinxton)ENSG00000124253 [Gene_View]  chr20:56136137-56141513 [Contig_View]  PCK1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000124253 [Gene_View]  chr20:56136137-56141513 [Contig_View]  PCK1 [Vega]
ICGC DataPortalENSG00000124253
TCGA cBioPortalPCK1
AceView (NCBI)PCK1
Genatlas (Paris)PCK1
WikiGenes5105
SOURCE (Princeton)PCK1
Genetics Home Reference (NIH)PCK1
Genomic and cartography
GoldenPath hg19 (UCSC)PCK1  -     chr20:56136137-56141513 +  20q13.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PCK1  -     20q13.31   [Description]    (hg38-Dec_2013)
EnsemblPCK1 - 20q13.31 [CytoView hg19]  PCK1 - 20q13.31 [CytoView hg38]
Mapping of homologs : NCBIPCK1 [Mapview hg19]  PCK1 [Mapview hg38]
OMIM261680   614168   
Gene and transcription
Genbank (Entrez)AI635748 AK290802 AK300072 AK303806 AW007566
RefSeq transcript (Entrez)NM_002591
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_008205 NT_011362 NW_004929418
Consensus coding sequences : CCDS (NCBI)PCK1
Cluster EST : UnigeneHs.1872 [ NCBI ]
CGAP (NCI)Hs.1872
Alternative Splicing GalleryENSG00000124253
Gene ExpressionPCK1 [ NCBI-GEO ]   PCK1 [ EBI - ARRAY_EXPRESS ]   PCK1 [ SEEK ]   PCK1 [ MEM ]
Gene Expression Viewer (FireBrowse)PCK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5105
GTEX Portal (Tissue expression)PCK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35558   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35558  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35558
Splice isoforms : SwissVarP35558
PhosPhoSitePlusP35558
Domaine pattern : Prosite (Expaxy)PEPCK_GTP (PS00505)   
Domains : Interpro (EBI)PEP_carboxykin_GTP_CS    PEP_carboxykinase_C    PEP_carboxykinase_GTP    PEP_carboxykinase_N   
Domain families : Pfam (Sanger)PEPCK (PF00821)   
Domain families : Pfam (NCBI)pfam00821   
Conserved Domain (NCBI)PCK1
DMDM Disease mutations5105
Blocks (Seattle)PCK1
PDB (SRS)1KHB    1KHE    1KHF    1KHG    1M51    1NHX    2GMV   
PDB (PDBSum)1KHB    1KHE    1KHF    1KHG    1M51    1NHX    2GMV   
PDB (IMB)1KHB    1KHE    1KHF    1KHG    1M51    1NHX    2GMV   
PDB (RSDB)1KHB    1KHE    1KHF    1KHG    1M51    1NHX    2GMV   
Structural Biology KnowledgeBase1KHB    1KHE    1KHF    1KHG    1M51    1NHX    2GMV   
SCOP (Structural Classification of Proteins)1KHB    1KHE    1KHF    1KHG    1M51    1NHX    2GMV   
CATH (Classification of proteins structures)1KHB    1KHE    1KHF    1KHG    1M51    1NHX    2GMV   
SuperfamilyP35558
Human Protein AtlasENSG00000124253
Peptide AtlasP35558
HPRD02028
IPIIPI00292709   IPI01010283   IPI00909475   IPI01011109   
Protein Interaction databases
DIP (DOE-UCLA)P35558
IntAct (EBI)P35558
FunCoupENSG00000124253
BioGRIDPCK1
STRING (EMBL)PCK1
ZODIACPCK1
Ontologies - Pathways
QuickGOP35558
Ontology : AmiGOmagnesium ion binding  phosphoenolpyruvate carboxykinase (GTP) activity  phosphoenolpyruvate carboxykinase (GTP) activity  GTP binding  cytoplasm  cytosol  glucose metabolic process  gluconeogenesis  gluconeogenesis  gluconeogenesis  oxaloacetate metabolic process  internal protein amino acid acetylation  response to activity  GDP binding  manganese ion binding  carboxylic acid binding  response to insulin  glucose homeostasis  glycerol biosynthetic process from pyruvate  cellular response to potassium ion starvation  positive regulation of transcription from RNA polymerase II promoter in response to acidic pH  extracellular exosome  
Ontology : EGO-EBImagnesium ion binding  phosphoenolpyruvate carboxykinase (GTP) activity  phosphoenolpyruvate carboxykinase (GTP) activity  GTP binding  cytoplasm  cytosol  glucose metabolic process  gluconeogenesis  gluconeogenesis  gluconeogenesis  oxaloacetate metabolic process  internal protein amino acid acetylation  response to activity  GDP binding  manganese ion binding  carboxylic acid binding  response to insulin  glucose homeostasis  glycerol biosynthetic process from pyruvate  cellular response to potassium ion starvation  positive regulation of transcription from RNA polymerase II promoter in response to acidic pH  extracellular exosome  
Pathways : KEGGGlycolysis / Gluconeogenesis    Citrate cycle (TCA cycle)    Pyruvate metabolism    PPAR signaling pathway    FoxO signaling pathway    PI3K-Akt signaling pathway    Insulin signaling pathway    Adipocytokine signaling pathway    Proximal tubule bicarbonate reclamation   
NDEx NetworkPCK1
Atlas of Cancer Signalling NetworkPCK1
Wikipedia pathwaysPCK1
Orthology - Evolution
OrthoDB5105
GeneTree (enSembl)ENSG00000124253
Phylogenetic Trees/Animal Genes : TreeFamPCK1
HOVERGENP35558
HOGENOMP35558
Homologs : HomoloGenePCK1
Homology/Alignments : Family Browser (UCSC)PCK1
Gene fusions - Rearrangements
Fusion : MitelmanAURKA/PCK1 [20q13.2/20q13.31]  [t(20;20)(q13;q13)]  
Fusion: TCGAAURKA 20q13.2 PCK1 20q13.31 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCK1
dbVarPCK1
ClinVarPCK1
1000_GenomesPCK1 
Exome Variant ServerPCK1
ExAC (Exome Aggregation Consortium)PCK1 (select the gene name)
Genetic variants : HAPMAP5105
Genomic Variants (DGV)PCK1 [DGVbeta]
DECIPHER (Syndromes)20:56136137-56141513  ENSG00000124253
CONAN: Copy Number AnalysisPCK1 
Mutations
ICGC Data PortalPCK1 
TCGA Data PortalPCK1 
Broad Tumor PortalPCK1
OASIS PortalPCK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCK1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PCK1
DgiDB (Drug Gene Interaction Database)PCK1
DoCM (Curated mutations)PCK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCK1 (select a term)
intoGenPCK1
Cancer3DPCK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM261680    614168   
Orphanet3374   
MedgenPCK1
Genetic Testing Registry PCK1
NextProtP35558 [Medical]
TSGene5105
GENETestsPCK1
Huge Navigator PCK1 [HugePedia]
snp3D : Map Gene to Disease5105
BioCentury BCIQPCK1
ClinGenPCK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5105
Chemical/Pharm GKB GenePA33069
Clinical trialPCK1
Miscellaneous
canSAR (ICR)PCK1 (select the gene name)
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCK1
EVEXPCK1
GoPubMedPCK1
iHOPPCK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:13:45 CEST 2017

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