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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PCK1 Gene

protein-coding   GIFtS: 68
GCID: GC20P056136

Phosphoenolpyruvate Carboxykinase 1 (Soluble)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Phosphoenolpyruvate Carboxykinase 1 (Soluble)1 2     PEPCKC2
Phosphoenolpyruvate Carboxylase2 3     PEP Carboxykinase2
PEPCK-C2 3     Phosphoenolpyruvate Carboxykinase, Cytosolic2
PEPCK12 3     Phosphoenolpyruvate Carboxykinase, Cytosolic [GTP]2
EC 4.1.1.323 8     Phosphopyruvate Carboxylase2

External Ids:    HGNC: 87241   Entrez Gene: 51052   Ensembl: ENSG000001242537   OMIM: 6141685   UniProtKB: P355583   

Export aliases for PCK1 gene to outside databases

Previous GC identifers: GC20P055864 GC20P056774 GC20P056821 GC20P055569 GC20P052917


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PCK1 Gene:
This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this
gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of
carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP,
and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A
mitochondrial isozyme of the encoded protein also has been characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for PCK1 Gene: 
PCK1 (phosphoenolpyruvate carboxykinase 1 (soluble)) is a protein-coding gene. Diseases associated with PCK1 include pepck 1 deficiency, and lactic acidosis, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Metabolic pathways. GO annotations related to this gene include GDP binding and GTP binding. An important paralog of this gene is PCK2.

UniProtKB/Swiss-Prot: PCKGC_HUMAN, P35558
Function: Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in
the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle

Gene Wiki entry for PCK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PCK1 gene promoter:
         Olf-1   IRF-1   RelA   NF-kappaB   E47   CREB   deltaCREB   Hand1   NF-kappaB1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PCK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.31   Ensembl cytogenetic band:  20q13.31   HGNC cytogenetic band: 20q13.31

PCK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCK1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P056136:  view genomic region     (about GC identifiers)

Start:
56,136,136 bp from pter      End:
56,141,513 bp from pter
Size:
5,378 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PCKGC_HUMAN, P35558 (See protein sequence)
Recommended Name: Phosphoenolpyruvate carboxykinase, cytosolic [GTP]  
Size: 622 amino acids; 69195 Da
Cofactor: Binds 1 manganese ion per subunit
Subunit: Monomer
Subcellular location: Cytoplasm
Miscellaneous: In eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one
6/7 PDB 3D structures from and Proteopedia for PCK1 (see all 7):
1KHB (3D)        1KHE (3D)        1KHF (3D)        1KHG (3D)        1M51 (3D)        1NHX (3D)    
Secondary accessions: A8K437 Q8TCA3 Q9UJD2

Explore the universe of human proteins at neXtProt for PCK1: NX_P35558

Explore proteomics data for PCK1 at MOPED 

Post-translational modifications:

  • UniProtKB: Lysine acetylation by p300/EP300 is increased on high glucose conditions and promotes ubiquitination by UBR5,
    acetylation is enhanced in the presence of BAG6. Deacetylated by SIRT2
  • UniProtKB: Ubiquitination by UBR5 leads to proteasomal degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35558

  • 4/31 DME Specific Peptides for PCK1 (P35558) (see all 31)
     NSRFCTP  FGVAPGT  GDDIAWM  GSGYGGN 

    PCK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PCK1 Protein Expression
    REFSEQ proteins: NP_002582.3  
    ENSEMBL proteins: 
     ENSP00000319814   ENSP00000445767   ENSP00000444342  
    Reactome Protein details: P35558
    Human Recombinant Protein Products for PCK1: 
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    OriGene Custom Protein Services for PCK1
    GenScript Custom Purified and Recombinant Proteins Services for PCK1
    Novus Biologicals PCK1 Proteins
    Novus Biologicals PCK1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for PCK1
    Cloud-Clone Corp. Proteins for PCK1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol TAS--

    PCK1 for ontologies           About GeneDecksing



    PCK1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for PCK1 
    Cloud-Clone Corp. CLIAs for PCK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR013035 PEP_carboxykinase_C
     IPR018091 PEP_carboxykin_GTP_CS
     IPR008210 PEP_carboxykinase_N
     IPR008209 PEP_carboxykinase_GTP

    Graphical View of Domain Structure for InterPro Entry P35558

    ProtoNet protein and cluster: P35558

    1 Blocks protein domain: IPB008209 Phosphoenolpyruvate carboxykinase (GTP)

    UniProtKB/Swiss-Prot: PCKGC_HUMAN, P35558
    Similarity: Belongs to the phosphoenolpyruvate carboxykinase [GTP] family


    PCK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PCKGC_HUMAN, P35558
    Function: Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in
    the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle
    Catalytic activity: GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO(2)
    Enzyme regulation: Enzyme activity is enhanced by acetylation
    Induction: Regulated by cAMP and insulin

         Genatlas biochemistry entry for PCK1:
    phosphoenolpyruvate carboxykinase 1,cytoplasmic,gluconeogenesis,energy pathway,mainly expressed in
    liver,kidney,adipocytes

         Enzyme Number (IUBMB): EC 4.1.1.321 2

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA11851336
    GO:0004611phosphoenolpyruvate carboxykinase activity ----
    GO:0004613phosphoenolpyruvate carboxykinase (GTP) activity ISS--
    GO:0005525GTP binding IDA11851336
    GO:0016301kinase activity ----
         
    PCK1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for PCK1:
     Decreased Wnt reporter activit  Decreased viability with pacli  Increased cell death in HCC-19  Increased telomerase activity 

         9 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Pck1):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  integument 
     liver/biliary system  mortality/aging  no phenotypic analysis  normal 

    PCK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PCK1: Pck1tm1.2Mgn Pck1tm1.1Lre Pck1tm1Lre Pck1tm1Rwh

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PCK1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PCK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PCK1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCK1 

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate PCK1:
    hsa-miR-548m hsa-miR-3163 hsa-miR-26a hsa-miR-32* hsa-miR-548c-3p hsa-miR-26b hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidPCK1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCK1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PCK1 About   (see all 17)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    Glycolysis and gluconeogenesis (short map)0.60
    Glycolysis / Gluconeogenesis0.46
    Glycolysis and Gluconeogenesis0.60
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Glucose metabolism
    Glucose metabolism0.50
    Gluconeogenesis0.50
    4Abacavir transport and metabolism
    Abacavir transport and metabolism0.50
    Abacavir metabolism0.50
    5Axon guidance
    Developmental Biology0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PCK1
        Glycolysis and gluconeogenesis (short map)


    1 GeneGo (Thomson Reuters) Pathway for PCK1
        Glycolysis and gluconeogenesis (short map)

    3 BioSystems Pathways for PCK1
        Adipogenesis
    Glycolysis and Gluconeogenesis
    FOXA2 and FOXA3 transcription factor networks

    5/8        Reactome Pathways for PCK1 (see all 8)
        Gluconeogenesis
    Developmental Biology
    Metabolism of carbohydrates
    Transcriptional Regulation of White Adipocyte Differentiation
    Abacavir metabolism

    1 PharmGKB Pathway for PCK1
        Abacavir Pathway, Pharmacokinetics/Pharmacodynamics

    5/9         Kegg Pathways  (Kegg details for PCK1) (see all 9):
        Glycolysis / Gluconeogenesis
    Citrate cycle (TCA cycle)
    Pyruvate metabolism
    Metabolic pathways
    PPAR signaling pathway

    UniProtKB/Swiss-Prot: PCKGC_HUMAN, P35558
    Pathway: Carbohydrate biosynthesis; gluconeogenesis


    PCK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PCK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/93 Interacting proteins for PCK1 (P355583 ENSP000003198144) via UniProtKB, MINT, STRING, and/or I2D (see all 93)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKGQ9Y6K93, ENSP000003586224I2D: score=1 STRING: ENSP00000358622
    JAK2O606743I2D: score=1 
    ACLYENSP000002537924STRING: ENSP00000253792
    CREB1ENSP000003876994STRING: ENSP00000387699
    CREBBPENSP000002623674STRING: ENSP00000262367
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0006107oxaloacetate metabolic process IEA--
    GO:0006475internal protein amino acid acetylation IDA--

    PCK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PCK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PCK1 (PCKGC)

    7 HMDB Compounds for PCK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    IDP5'-IDP (see all 10)86-04-4--
    Inosine triphosphateinosine 5'-(tetrahydrogen triphosphate) (see all 13)132-06-9--
    Oxalacetic acid2-Ketosuccinate (see all 20)328-42-7--
    Phosphoenolpyruvic acid2-hydroxy-Acrylic acid dihydrogen phosphate (see all 6)138-08-9--

    4 DrugBank Compounds for PCK1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-(2-Fluorobenzyl)-3-Butyl-8-(N-Acetyl-4-Aminobenzyl)-Xanthine-- --target--17139284 17016423 10592235
    1-Allyl-3-Butyl-8-(N-Acetyl-4-Aminobenzyl)-Xanthine-- --target--17139284 17016423 10592235
    Phosphoenolpyruvate-- 138-08-9target--17139284 17016423
    Phosphomethylphosphonic Acid-Guanylate Ester-- --target--17139284 17016423

    10/14 Novoseek inferred chemical compound relationships for PCK1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoenolpyruvate 93.7 86 7738162 (2), 14764811 (2), 17242918 (2), 8490617 (2) (see all 52)
    glycerol 3-phosphate 69.1 2 17242918 (1), 15220243 (1)
    gtp 64.8 13 14641009 (1), 7738162 (1), 10221772 (1), 11443121 (1) (see all 10)
    pyruvate 58 4 17296778 (1), 18534791 (1), 17211624 (1)
    fatty acid 41.1 6 11443121 (1), 14739073 (1), 17242918 (1), 18492826 (1) (see all 5)
    sterol 33.3 2 11443121 (1), 17605314 (1)
    rosiglitazone 32.8 8 17242918 (5), 14739078 (1)
    glucose 31.9 5 17211624 (2), 7738162 (1), 14502558 (1)
    retinoic acid 25.8 6 18492826 (2), 8117098 (1)
    carnitine 24.9 1 18534791 (1)

    Search CenterWatch for drugs/clinical trials and news about PCK1 / PCKGC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PCK1 gene: 
    NM_002591.3  

    Unigene Cluster for PCK1:

    Phosphoenolpyruvate carboxykinase 1 (soluble)
    Hs.1872  [show with all ESTs]
    Unigene Representative Sequence: BX648510
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000467047 ENST00000319441(uc002xyn.4 uc010zzm.2) ENST00000475833
    ENST00000498194 ENST00000470051 ENST00000485958 ENST00000543666 ENST00000535860


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    hsa-miR-548m hsa-miR-3163 hsa-miR-26a hsa-miR-32* hsa-miR-548c-3p hsa-miR-26b hsa-miR-1297
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCK1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCK1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PCK1

    Additional mRNA sequence: 

    AK290802.1 AK300072.1 AK303806.1 BC023978.1 BX648510.1 

    9 DOTS entries:

    DT.97855326  DT.95275399  DT.91788630  DT.100778072  DT.91642314  DT.95275405  DT.91830174  DT.95275406 
    DT.95190842 

    24/203 AceView cDNA sequences (see all 203):

    BX283997 AW611879 AI473751 AV647494 AV646860 BX361712 AA405769 C21065 
    AI702481 BG399344 AV647771 AV646894 AV646907 AW058502 CB124844 BM772517 
    BM750619 BG400655 AI985525 BM749254 AW026069 BM772524 AI767581 AA516312 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PCK1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c
    SP1:                    -           -                             -                                       
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for PCK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PCK1 expression in normal human tissues (normalized intensities)      PCK1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCTGTGTG
    PCK1 Expression
    About this image


    PCK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Intestine (Gastrointestinal Tract)
             small intestine   
     
     Amnion (Extraembryonic Tissues)
             Amniotic Epithelial Cells Amniotic Membrane
     
     Colon (Gastrointestinal Tract)

    See PCK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PCK1

    SOURCE GeneReport for Unigene cluster: Hs.1872

    UniProtKB/Swiss-Prot: PCKGC_HUMAN, P35558
    Tissue specificity: Major sites of expression are liver, kidney and adipocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including PCK1: 
              Insulin Resistance in human mouse rat
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              Glucose Metabolism in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PCK1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pck11 , 5 phosphoenolpyruvate carboxykinase 1, cytosolic1, 5 85.53(n)1
    90.84(a)1
      2 (95.79 cM)5
    185341  NM_011044.21  NP_035174.11 
     1731530485 
    chicken
    (Gallus gallus)
    Aves PCK11 phosphoenolpyruvate carboxykinase 1 (soluble) 77.01(n)
    83.76(a)
      396458  NM_205471.1  NP_990802.1 
    lizard
    (Anolis carolinensis)
    Reptilia PCK16
    Uncharacterized protein
    80(a)
    1 ↔ 1
    GL343217.1(983806-1003442)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC688642 hypothetical protein MGC68864 77.86(n)    BC057715.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.261322 Danio rerio cDNA clone MGC63869 IMAGE6789372, complete more 78.6(n)    BC053122.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG109241 , 3 phosphoenolpyruvate carboxykinase
    (GTP)3
    CG109241
    64(a)
    (best of 2)3
    64.56(n)1
    65.61(a)1
      371301  NM_137497.21  NP_611341.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R11A5.43 phosphoenolpyruvate carboxykinase 57(a)   I(7874462-7879944)   --


    ENSEMBL Gene Tree for PCK1 (if available)
    TreeFam Gene Tree for PCK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PCK1 gene
    PCK22  
    1 SIMAP similar gene for PCK1 using alignment to 3 protein entries:     PCKGC_HUMAN (see all proteins):
    PCK2

    PCK1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/379 SNPs in PCK1 are shown (see all 379)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1497183951,2
    Cuntested156106525(+) CAAGAA/C/GGGTTA 2 T R mis10--------
    rs597162781,2
    C--52921875(+) TTTTT-/T/TT  
            
    CCTGC
    1 -- int10--------
    rs781893181,2
    --52921875(+) TTTCTC/TTTTTT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1403847551,2
    --56103548(+) ATTACC/TGTCCT 1 -- us2k10--------
    rs1905811681,2
    --56103549(+) TTACCA/GTCCTT 1 -- us2k10--------
    rs1441569781,2
    --56103585(+) AGGATC/TGGATG 1 -- us2k10--------
    rs1820014651,2
    --56103609(+) ACTCAC/TTGCTC 1 -- us2k10--------
    rs1864232241,2
    --56103685(+) TGGGTC/TGCATT 1 -- us2k10--------
    rs10225701,2
    C,H--56103697(-) TTTGGA/TGTCCT 1 -- us2k14Minor allele frequency- T:0.00NS EA 418
    rs1464778961,2
    --56103703(+) CCAAAC/TGAGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PCK1 (56136136 - 56141513 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PCK1: --

    Human Gene Mutation Database (HGMD): PCK1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PCK1
    DNA2.0 Custom Variant and Variant Library Synthesis for PCK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614168    OMIM disorders: --

    UniProtKB/Swiss-Prot: PCKGC_HUMAN, P35558
  • Cytosolic phosphoenolpyruvate carboxykinase deficiency (C-PEPCKD) [MIM:261680]: Metabolic disorder
    resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature.
    Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia.
    Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal
    recessive trait. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/22 diseases for PCK1 (see all 22):    About MalaCards
    pepck 1 deficiency    lactic acidosis    maturity-onset diabetes of the young    hirschsprung's disease
    hypotonia    insulin resistance    hyperglycemia    hypoglycemia
    metabolic disorders    kidney disease    diabetes mellitus    multiple sclerosis
    tuberculosis    obesity    schizophrenia    alzheimer's disease
    hepatitis c    thyroiditis    melanoma    gastric cancer


    PCK1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for PCK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    niddm 39.9 17 9285775 (3), 14764811 (2), 8490617 (2), 16620271 (2) (see all 5)
    insulin resistance 34.5 1 16282543 (1)

    Genetic Association Database (GAD): PCK1
    Human Genome Epidemiology (HuGE) Navigator: PCK1 (25 documents)

    Export disorders for PCK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PCK1 gene, integrated from 9 sources (see all 116):
    (articles sorted by number of sources associating them with PCK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The promoter polymorphism -232C/G of the PCK1 gene is associated with type 2 diabetes in a UK-resident South Asian population. (PubMed id 19725958)1, 4, 9 Rees S.D....Kelly M.A. (2009)
    2. cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young. (PubMed id 8490617)1, 2, 9 Stoffel M....Bell G.I. (1993)
    3. A Leu184Val polymorphism in PCK1 gene is associated with type 2 diabetes in Eastern Chinese population with BMI<23 kg/m2. (PubMed id 19070910)1, 4, 9 Dong Y....Su Q. (2009)
    4. Disparate associations of a functional promoter polymorphism in PCK1 with carotid wall ultrasound traits. (PubMed id 16282543)1, 4, 9 Hegele R.A....Spence J.D. (2005)
    5. The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2. (PubMed id 1492743)1, 3, 9 Pilz A.J....Abbott C.M. (1992)
    6. Promoter polymorphism in PCK1 (phosphoenolpyruvate carboxykinase gene) associated with type 2 diabetes mellitus. (PubMed id 14764811)1, 4, 9 Cao H....Hegele R.A. (2004)
    7. Association of the promoter polymorphism -232C/G of t he phosphoenolpyruvate carboxykinase gene (PCK1) with Type 2 diabetes mellitus. (PubMed id 16620271)1, 4, 9 Gouni-Berthold I....Krone W. (2006)
    8. Association of a polymorphism in the gene encoding phosphoenolpyruvate carboxykinase 1 with high-density lipoprotein and triglyceride levels. (PubMed id 16132948)1, 4, 9 Shin H.D....Park K.S. (2005)
    9. Large-scale study of the -232C > G polymorphism of PCK1 in Type 2 diabetes. (PubMed id 16978381)1, 4, 9 Wegner L....Pedersen O. (2006)
    10. The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples. (PubMed id 18460190)1, 4, 9 Olsen L....Werge T. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5105 HGNC: 8724 AceView: PCK1 Ensembl:ENSG00000124253 euGenes: HUgn5105
    ECgene: PCK1 Kegg: 5105 H-InvDB: PCK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PCK1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCK1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pck1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PCK1 gene:
    Search GeneIP for patents involving PCK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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