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PCK1 Gene

protein-coding   GIFtS: 67
GCID: GC20P056136

Phosphoenolpyruvate Carboxykinase 1 (Soluble)

  See PCK1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency, and type 2 diabetes mellitus. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   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 Chromatin IP Primers for PCK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Miscellaneous: In eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one
Selected 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: 

  • 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 SIRT21
  • Ubiquitination by UBR5 leads to proteasomal degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PCK1 (P35558) (see all 31)
     NSRFCTP  FGVAPGT  GDDIAWM  GSGYGGN 


    See PCK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002582.3  
    ENSEMBL proteins: 
     ENSP00000319814   ENSP00000445767   ENSP00000444342  
    Reactome Protein details: P35558

    PCK1 Human Recombinant Protein Products:

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    Novus Biologicals PCK1 Lysates
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PCK1
    Cloud-Clone Corp. Proteins for PCK1

     
    Search eBioscience for Proteins for PCK1 

    PCK1 Antibody Products:

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    Search eBioscience for ELISAs for PCK1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with PCK1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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 ----
         
    Find genes that share ontologies with PCK1           About GenesLikeMe


    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/body  homeostasis/metabolism  integument 
     liver/biliary system  mortality/aging  no phenotypic analysis  normal 

    Find genes that share phenotypes with PCK1           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PCK1
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       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 qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat PCK1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for PCK1
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    GenScript: all cDNA clones in your preferred vector: PCK1 (NM_002591)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCK1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PCKGC_HUMAN, P35558: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    chloroplast3
    golgi apparatus3
    mitochondrion2
    nucleus2
    vacuole2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with PCK1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PCK1 About   (see all 18)  
    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
    Metabolism0.38
    Metabolic pathways0.38
    3Glucose metabolism
    Glucose metabolism0.44
    Gluconeogenesis0.44
    4Abacavir transport and metabolism
    Abacavir transport and metabolism
    Abacavir metabolism0.00
    5L1CAM interactions
    Developmental Biology0.63


    Find genes that share SuperPaths with PCK1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    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

    3 Reactome Pathways for PCK1
        Gluconeogenesis
    Transcriptional regulation of white adipocyte differentiation
    Abacavir metabolism

    1 PharmGKB Pathway for PCK1
        Abacavir Pathway, Pharmacokinetics/Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for PCK1) (see all 10):
        Glycolysis / Gluconeogenesis
    Citrate cycle (TCA cycle)
    Pyruvate metabolism
    Metabolic pathways
    PPAR signaling pathway

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PCK1: 

              Insulin Resistance in human mouse rat
              Diabetes in human mouse rat
              PPAR Targets in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PCK1

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

    Selected Interacting proteins for PCK1 (P355583 ENSP000003198144) via UniProtKB, MINT, STRING, and/or I2D (see all 94)
    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): Selected biological process terms (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--

    Find genes that share ontologies with PCK1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    Selected 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)



    Find genes that share compounds with PCK1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    7 qRT-PCR 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
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    Primer
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    OriGene qPCR primer pairs and template standards for PCK1
    OriGene qSTAR qPCR primer pairs in human, mouse for PCK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PCK1
      QuantiTect SYBR Green Assays in human, mouse, rat PCK1
      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 

    Selected AceView cDNA sequences (see all 203):

    AV646860 BX283997 AV646894 AI702481 AW611879 AI473751 AV646907 AA405769 
    C21065 BG399344 AW058502 AV647771 AV647494 CB124844 BX361712 BC023978 
    BM747994 BM766333 BM748443 AI253176 BI760388 BM757947 BM765400 BG431265 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PCK1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 8) fully expand
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Body Subcutaneous White Adipose
             White adipocyte-like cells
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Amnion (Extraembryonic Tissues)
             Amniotic Epithelial Cells Amniotic Membrane
    PCK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1872

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PCK1: 
              Insulin Resistance in human mouse rat
              Diabetes in human mouse rat
              PPAR Targets in human mouse rat
              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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PCK1 gene from Selected species (see all 16)    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
    phosphoenolpyruvate carboxykinase 1 (soluble)
    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
    63.86(n)1
    64.34(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)
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    Paralogs for PCK1 gene
    PCK22  
    1 SIMAP similar gene for PCK1 using alignment to 3 protein entries:     PCKGC_HUMAN (see all proteins):
    PCK2

    Find genes that share paralogs with PCK1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PCK1 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614168   
    OMIM disorders: 261680  
    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

  • 2 diseases for PCK1:    
    About MalaCards
    phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency    type 2 diabetes mellitus


    Find genes that share disorders with PCK1           About GenesLikeMe

    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)
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    PubMed articles for PCK1 gene, integrated from 10 sources (see all 121):
    (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. (BMC Med. Genet. 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. (Hum. Mol. Genet. 1993)
    3. A Leu184Val polymorphism in PCK1 gene is associated with type 2 diabetes in Eastern Chinese population with BMI&lt;23 kg/m2. (PubMed id 19070910)1, 4, 9 Dong Y....Su Q. (Diabetes Res. Clin. Pract. 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. ( a journal of cerebral circulation 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. (Ann. Hum. Genet. 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. (J. Clin. Endocrinol. Metab. 2004)
    7. Association of the promoter polymorphism -232C/G of the phosphoenolpyruvate carboxykinase gene (PCK1) with Type 2 diabetes mellitus. (PubMed id 16620271)1, 4, 9 Gouni-Berthold I....Krone W. (Diabet. Med. 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. (Diabetologia 2005)
    9. Large-scale study of the -232C &gt; G polymorphism of PCK1 in Type 2 diabetes. (PubMed id 16978381)1, 4, 9 Wegner L....Pedersen O. (Diabet. Med. 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. (BMC Med. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5105 HGNC: 8724 AceView: PCK1 Ensembl:ENSG00000124253 euGenes: HUgn5105
    ECgene: PCK1 Kegg: 5105 H-InvDB: PCK1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PCK1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PCK1[genesymbol]
    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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