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PCK1 Gene

protein-coding   GIFtS: 60

GC20P052917
phosphoenolpyruvate carboxykinase 1 (soluble)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

Aliases &
Descriptions
for PCK1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
phosphoenolpyruvate carboxykinase 1 (soluble)1 2     PEP carboxykinase2
PEPCK-C1 2 3     phosphoenolpyruvate carboxykinase, cytosolic [GTP]2
Phosphoenolpyruvate carboxylase2 3     phosphopyruvate carboxylase2
PEPCK12 3     MGC226522
PEPCKC2     EC 4.1.1.323
phosphoenolpyruvate carboxykinase, cytosolic2     

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

Export aliases for PCK1 gene to outside databases

Previous GC identifers: GC20P055864 GC20P056774 GC20P056821 GC20P055569 GC20P056136


Summaries
for PCK1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PCK1:
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)

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

Genomic Views
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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PCK1 gene promoter:
         GR-alpha   GR-beta   PPAR-gamma2   PPAR-gamma1   LUN-1   POU3F2 (N-Oct-5a)   POU3F2   POU3F2 (N-Oct-5b)   SREBP-1c   SREBP-1a   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for PCK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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 gene densities for chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P052917:  view genomic region     (about GC identifiers)

Start:
 52,917,936 bp from pter
End:
 52,923,310 bp from pter
Size:
 5,375 bases
Orientation:
 plus strand

1 alternative location:
Chr20+ 56,136,136-56,141,513     
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  

Proteins
for PCK1 gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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
PDB structures from and Proteopedia :
1KHB (3D)    1KHE (3D)    1KHF (3D)    1KHG (3D)    1M51 (3D)    1NHX (3D)    2GMV (3D)    
Secondary accessions: A8K437 Q8TCA3 Q9UJD2

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

Post-translational modifications:

  • Acetylation is increased on addition of glucose and appears to regulate the protein stability1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_002582.3  

    ENSEMBL proteins: 
    ENSP00000319814 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: PCK1
    OriGene Protein Over-expression Lysate: PCK1
    GenScript Custom Purified and Recombinant Proteins Services for PCK1 
    Novus Biologicals Proteins for PCK1
    Novus Biologicals Lysates for PCK1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625 soluble fraction IEA--
    GO:0005634 nucleus IDA18029348
    GO:0005730NOT nucleolus IDA18029348
    GO:0005737 cytoplasm ISS--
    GO:0005829 cytosol EXP11851336
    About this table

    PCK1 for ontologies           About GeneDecksing



    Antibodies for PCK1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for PCK1
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 2): PCK1
    GenScript Custom Superior Antibodies Services for PCK1 
    Novus Biologicals Antibodies for PCK1
    Browse antibodies at Epitomics

    Assays for PCK1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PCK1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PCK1 

    Protein Domains/
    Families
    for PCK1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PCK1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB008209 Phosphoenolpyruvate carboxykinase (GTP)

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


    Gene Function
    for PCK1 gene

    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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
    Catalytic activity: GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO(2)
    Enzyme regulation: Enzyme activity is enhanced by acetylation
    Induction: Regulated by cAMP and insulin
    Enzyme Number (IUBMB): EC 4.1.1.32 

    Inhib.
    RNA:            		Browse for Gene Knock-down Tools from Millipore
    Sigma-Aldrich Nano Scale siRNA for PCK1
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PCK1
    Sigma-Aldrich shRNA Panels and shRNA for PCK1
    OriGene 29mer shRNA kits in GFP-retroviral vector: PCK1
    OriGene shRNA RFP: PCK1
    OriGene basic RS shRNA: PCK1
    OriGene siRNA: PCK1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PCK1 
    miRNA:Sigma-Aldrich microRNA Mimics for PCK1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PCK1 
    1 SABiosciences Assays for microRNA that regulate PCK1:
    hsa-miR-548c-3p

    Gene
    Editing:    		Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: PCK1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PCK1
    OriGene untagged cDNA clones in CMV expression vector: PCK1
    OriGene 3'-UTR clone: PCK1 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PCK1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for PCK1 

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287 magnesium ion binding IDA11851336
    GO:0004611 phosphoenolpyruvate carboxykinase activity ----
    GO:0004613 phosphoenolpyruvate carboxykinase (GTP) activity ISS--
    GO:0005525 GTP binding IDA11851336
    GO:0016829 lyase activity IEA--
    About this table

    PCK1 for ontologies           About GeneDecksing

    Animal Models: 9 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Pck1):

    adipose tissuebehavior/neurologicalgrowth/sizehomeostasis/metabolismlethality-postnatal
    liver/biliary systemno phenotypic analysisnormalskin/coat/nails

    PCK1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PCK1 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    PCK1 for pathways           About GeneDecksing

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

    5 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  PCK1
        TR/RXR Activation
    Citrate Cycle
    Glucocorticoid Receptor Signaling
    Estrogen Receptor Signaling
    Pyruvate Metabolism

    5/9 Kegg Pathways  (Kegg details for PCK1) (see all 9):
        hsa00010 Glycolysis / Gluconeogenesis
    hsa00020 Citrate cycle (TCA cycle)
    hsa00620 Pyruvate metabolism
    hsa01100 Metabolic pathways
    hsa01120 Microbial metabolism in diverse environments

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

        SABiosciences Pathway-Focused PCR Array including PCK1: PAHS-006A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PCK1
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PCK1

    5/37 Interacting proteins for PCK1 (ENSP000003198143) via UniProtKB, MINT, and/or STRING (see all 37)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CREB1ENSP000002369963STRING: ENSP00000236996
    FOXA2ENSP000003663193STRING: ENSP00000366319
    FOXA3ENSP000003040043STRING: ENSP00000304004
    MDH1ENSP000002331143STRING: ENSP00000233114
    MDH2ENSP000003270703STRING: ENSP00000327070
    About this table

    5/9 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 9):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975 carbohydrate metabolic process TAS--
    GO:0006006 glucose metabolic process TAS--
    GO:0006094 gluconeogenesis TAS--
    GO:0006107 oxaloacetate metabolic process IEA--
    GO:0006629 lipid metabolic process IEA--
    About this table

    PCK1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PCK1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    PCK1 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PCK1
    10/14 Novoseek chemical compound relationships for PCK1 gene (see all 14)
    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)
    About this table



    Transcripts
    for PCK1 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section
    Inhib.
    RNA:             		Browse for Gene Knock-down Tools from Millipore
    Sigma-Aldrich Nano Scale siRNA for PCK1
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PCK1
    Sigma-Aldrich shRNA Panels and shRNA for PCK1
    OriGene 29mer shRNA kits in GFP-retroviral vector: PCK1
    OriGene shRNA RFP: PCK1
    OriGene basic RS shRNA: PCK1
    OriGene siRNA: PCK1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PCK1 
    miRNA: Sigma-Aldrich microRNA Mimics for PCK1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PCK1 
    1 SABiosciences Assays for microRNA that regulate PCK1:
    hsa-miR-548c-3p
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: PCK1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PCK1
    OriGene untagged cDNA clones in CMV expression vector: PCK1
    OriGene 3'-UTR Clone: PCK1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PCK1 
    Primers: OriGene genome-wide validated SYBR primer pairs: PCK1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PCK1: PPH02304A

    REFSEQ mRNAs for PCK1 gene: 

    NM_002591.3  

    Additional cDNA 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):

    AV647494 BG399344 AW611879 AV646894 AA405769 AV646860 AW058502 BX361712 
    AI473751 AV646907 C21065 AV647771 AI702481 BX283997 CB124844 BM748674 
    AV646858 BI760388 CD679509 BI763464 BM748443 BM770571 AW615193 AI635748 

    highest scoring ESTs for PCK1:

    AW007566 AA405769 AA514552 AA516312 AA862625 AI302219 AI492419 AI567063 AI635748 AI675259 

    Unigene Cluster for PCK1:

    Phosphoenolpyruvate carboxykinase 1 (soluble)
    Hs.1872  [show with all ESTs]
    Unigene Representative Sequence: BX648510


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for PCK1
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485958 ENST00000470051 ENST00000467047 ENST00000319441(uc002xyn.3 uc010zzm.1)
    ENST00000475833 ENST00000498194

    Expression
    for PCK1 gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    PCK1 expression in normal and diseased human tissues

    1  / 2  / 3

    7 probe-sets matching PCK1 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    33702_f_at2, 3 U95-A 1 1.00 1.00 0.99 1.13 L05144 0.80 1.00 0.91 1
    80604_at2, 3 U95-E 1 0.94 1.00 0.98 1.22 AW007566 1.00 1.00 1.00 1
    80570_at2, 3 U95-E 1 0.88 1.00 0.62 0.63 AW026069 0.80 1.00 0.91 1
    33703_f_at2, 3 U95-A 1 0.75 1.00 0.99 1.11 L12760 0.20 1.00 0.72 1
    84670_at2, 3 U95-E 1 0.75 1.00 0.76 1.09 AI985785 0.80 1.00 0.91 1
    208383_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002591 0.60 1.00 0.82 1
    208383_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    PCK1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    PCK1 gene expression
    PCK1 gene electronic northern expression
    PCK1 gene sage expression
    About these images

    CGAP SAGE TAG: TGTCTGTGTG

    SOURCE GeneReport for Unigene cluster: Hs.1872

    Expression variation in blood from EXPOLDB for PCK1

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

    Primers: OriGene genome-wide validated SYBR primer pairs: PCK1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PCK1: PPH02304A
        SABiosciences Expression via Pathway-Focused PCR Array including PCK1: PAHS-006A 


    Orthologs
    for PCK1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for PCK1 gene from 5/11 species (see all 11)
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 PCK11   -- phosphoenolpyruvate carboxykinase 1 (soluble) 87.35(n)
    89.71(a)    		 403560  XM_543068.2  XP_543068.2 
    chimpanzee
    (Pan troglodytes)    		 PCK11   -- phosphoenolpyruvate carboxykinase 1 (soluble) 99.09(n)
    99.36(a)    		 458362  XM_514745.2  XP_514745.2 
    cow
    (Bos taurus)    		 PCK11   -- phosphoenolpyruvate carboxykinase 1 (soluble) 84.24(n)
    86.66(a)    		 282855  NM_174737.2  NP_777162.1 
    rat
    (Rattus norvegicus)    		 Pck11   -- phosphoenolpyruvate carboxykinase 1, cytosolic 85.21(n)
    90.84(a)    		 362282  NM_198780.3  NP_942075.1 
    mouse
    (Mus musculus)    		 Pck11 , 5 2 (95.79 cM)5
    		 phosphoenolpyruvate carboxykinase 1, cytosolic1, 5 85.58(n)1
    90.84(a)1    		 185341  NM_011044.21  NP_035174.11 
     AA0801725  AA1064635  (see all 19)
    About this table        Species with no ortholog for PCK1

    ENSEMBL Gene Tree for PCK1 (if available)

    Paralogs
    for PCK1 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for PCK1 gene
    PCK22  

    PCK1 for paralogs           About GeneDecksing



    Genomic Variants
    for PCK1 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/136 NCBI SNPs in PCK1 are shown (see all 136)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 20 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ----------
    rs7075551,2
    		C,F,O,A,H,56137895(-) GCCCAG/CTGCTT 2 /L /V mis1 ref1 ese329Minor allele frequency- C:0.16MN NS EA NA WA 2250
    rs10225701,2
    		C56134349(-) TTTGGA/TGTCCT 1 -- ng514Minor allele frequency- T:0.00NS EA 418
    rs10230491,2
    		C,F,O,A,H,56139967(-) TTTGCA/GTTCAC 1 -- int133Minor allele frequency- G:0.43NA EA NS WA 3564
    rs10405661,2
    		C,F,A,56137687(-) GCATTT/GTTTTC 1 -- int1 trp312Minor allele frequency- G:0.15NS EA NA WA 1134
    rs10425211,2
    		C,F,A,H,56136536(+) AGCCTA/GCCCCA 2 L ref1 syn116Minor allele frequency- G:0.46MN EU NS NA EA WA 1841
    rs10425231,2
    		C,F,A,H,56137807(+) CTGTCA/GAAGAT 2 S ref1 syn118Minor allele frequency- G:0.41EU NA NS EA WA 1831
    rs10425291,2
    		C,H56140749(+) TGGGAG/CAAGGA 2 /D /E mis1 ref1 trp35Minor allele frequency- C:0.00MN NS EA 590
    rs10425301,2
    		H56140781(+) TCTGGA/TGGATC 2 E V ref1 mis1 ese35Minor allele frequency- T:0.00MN NS EA 586
    rs10425311,2
    		C,F,A,56140980(+) CACCGT/GGAGCA 1 -- ut3127Minor allele frequency- G:0.39MN NS EA EU NA WA 3133
    rs10425321,2
    		--56141105(+) GCATAC/GTTTGT 1 -- ut310--------
    About this table

    HapMap Linkage Disequilibrium images for PCK1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PCK1: --

    QIAGEN SeqTarget long-range PCR primers for resequencing PCK1 

    Disorders & Mutations
    for PCK1 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PCK1 for disorders           About GeneDecksing

    OMIM: 261680

    UniProtKB/Swiss-Prot: PCKGC_HUMAN, P35558

  • Defects in PCK1 are the cause of cytosolic phosphoenolpyruvate carboxykinase deficiency (cytosolic PEPCK
    • deficiency) [MIM:261680]. PEPCK deficiency is a 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. Autoposy reveals fatty infiltration of both the
    liver and kidneys. The disorder is transmitted as an autosomal recessive trait

    2 Novoseek disease relationships for PCK1 gene

    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)
    About this table

    Human Gene Mutation Database (HGMD): PCK1
    Genetic Association Database (GAD): PCK1
    Human Genome Epidemiology (HuGE) Navigator: PCK1 (22 documents)

    Export disorders and mutations for PCK1 gene to outside databases

    Medical News
    for PCK1 gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section
    		   --

    Publications
    for PCK1 gene

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

    10/101 PubMed articles for PCK1 gene, integrated from 7 sources (see all 101):
    (articles sorted by number of sources associating them with PCK1)
    1. 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, 7 Stoffel M....Bell G.I. (1993)
    2. Disparate associations of a functional promoter polymorphism in PCK1 with carotid wall ultrasound traits. (PubMed id 16282543)1, 4, 7 Hegele R.A....Spence J.D. (2005)
    3. 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, 7 Pilz A.J....Abbott C.M. (1992)
    4. Promoter polymorphism in PCK1 (phosphoenolpyruvate carboxykinase gene) associated with type 2 diabetes mellitus. (PubMed id 14764811)1, 4, 7 Cao H....Hegele R.A. (2004)
    5. Association of a polymorphism in the gene encoding phosphoenolpyruvate carboxykinase 1 with high-density lipoprotein and triglyceride levels. (PubMed id 16132948)1, 4, 7 Shin H.D....Park K.S. (2005)
    6. Crystal structure of human cytosolic phosphoenolpyruvate carboxykinase reveals a new GTP-binding site. (PubMed id 11851336)1, 2, 7 Dunten P.... Wertheimer S.J. (2002)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    9. Structural and functional analysis of the human phosphoenolpyruvate carboxykinase gene promoter. (PubMed id 8547315)1, 2 O'Brien R.M.... Granner D.K. (1995)
    10. Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20. (PubMed id 8325643)1, 2 Ting C.-N....Meisler M.H. (1993)

    External Searches for PCK1 gene

    (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)

    Genome Databases showing PCK1 gene

    (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

    Other Databases showing PCK1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PCK1 gene

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

    Intellectual Property
    for PCK1 gene

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

    GeneCards and IP:
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    Products
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    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
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