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PGK1 Gene

protein-coding   GIFtS: 77
GCID: GC0XP077246

Phosphoglycerate Kinase 1

  See PGK1-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Phosphoglycerate Kinase 11 2     EC 2.7.2.33 8
PGKA2 3 5     HEL-S-68p2
Cell Migration-Inducing Gene 10 Protein2 3     MIG102
Primer Recognition Protein 22 3     Epididymis Secretory Sperm Binding Protein Li 68p2
PRP 22 3     

External Ids:    HGNC: 88961   Entrez Gene: 52302   Ensembl: ENSG000001021447   OMIM: 3118005   UniProtKB: P005583   
ORGUL members:         

Export aliases for PGK1 gene to outside databases

Previous GC identifers: GC0XP072905 GC0XP074321 GC0XP075400 GC0XP076115 GC0XP077165 GC0XP070945


(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 PGK1 Gene:
The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to
3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this
protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds
in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor
angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform
mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical
phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on
chromosomes 19, 21 and the X chromosome. (provided by RefSeq, Jan 2014)

GeneCards Summary for PGK1 Gene:
PGK1 (phosphoglycerate kinase 1) is a protein-coding gene. Diseases associated with PGK1 include phosphoglycerate kinase deficiency, and menkes disease. GO annotations related to this gene include phosphoglycerate kinase activity. An important paralog of this gene is PGK2.

UniProtKB/Swiss-Prot: PGK1_HUMAN, P00558
Function: In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor
protein (primer recognition protein)

Gene Wiki entry for PGK1 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_000023.10  NC_018934.2  NT_011651.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the PGK1 gene promoter:
         RP58   C/EBPbeta   XBP-1   E4BP4   Evi-1   E47   C/EBPalpha   Hand1   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPGK1 promoter sequence
   Search Chromatin IP Primers for PGK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PGK1


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

Entrez Gene cytogenetic band: Xq13.3   Ensembl cytogenetic band:  Xq21.1   HGNC cytogenetic band: Xq13.3

PGK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PGK1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP077246:  view genomic region     (about GC identifiers)

Start:
77,320,685 bp from pter      End:
77,384,793 bp from pter
Size:
64,109 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PGK1_HUMAN, P00558 (See protein sequence)
Recommended Name: Phosphoglycerate kinase 1  
Size: 417 amino acids; 44615 Da
Subunit: Monomer
Selected PDB 3D structures from and Proteopedia for PGK1 (see all 17):
2WZB (3D)        2WZC (3D)        2WZD (3D)        2X13 (3D)        2X14 (3D)        2X15 (3D)    
Secondary accessions: A8K4W6 Q5J7W1 Q6IBT6 Q8NI87

Explore the universe of human proteins at neXtProt for PGK1: NX_P00558

Explore proteomics data for PGK1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys6, Lys11, Lys30, Lys48, Lys75, Lys86, Lys91, Lys97, Lys106, Lys156,
                                 Lys184, Lys192, Lys199, Lys216, Lys220, Lys264, Lys267, Lys279, Lys291, Lys332 (see all 21)
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PGK1 (P00558) (see all 33)
     ITNNQRI  KIVKDLM  LLENLRF  RVDFNVP 


    See PGK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000282.1  
    ENSEMBL proteins: 
     ENSP00000362413   ENSP00000405452   ENSP00000444708  
    Reactome Protein details: P00558

    PGK1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PGK1
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    Novus Biologicals PGK1 Proteins
    Novus Biologicals PGK1 Lysate
    Sino Biological Recombinant Protein for PGK1
    Sino Biological Cell Lysate for PGK1
    ProSpec Recombinant Protein for PGK1
    Cloud-Clone Corp. Proteins for PGK1

     
    Search eBioscience for Proteins for PGK1 

     
    antibodies-online proteins for PGK1 (27 products) 

     
    antibodies-online peptides for PGK1

    PGK1 Antibody Products:

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    antibodies-online antibodies for PGK1 (76 products) 

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    Cloud-Clone Corp. ELISAs for PGK1
    Cloud-Clone Corp. CLIAs for PGK1
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    antibodies-online kits for PGK1 (13 products) 


    (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:
     IPR001576 Phosphoglycerate_kinase
     IPR015824 Phosphoglycerate_kinase_N
     IPR015901 Phosphoglycerate_kinase_C
     IPR015911 Phosphoglycerate_kinase_CS

    Graphical View of Domain Structure for InterPro Entry P00558

    ProtoNet protein and cluster: P00558

    1 Blocks protein domain: IPB001576 Phosphoglycerate kinase

    UniProtKB/Swiss-Prot: PGK1_HUMAN, P00558
    Similarity: Belongs to the phosphoglycerate kinase family


    Find genes that share domains with PGK1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: PGK1_HUMAN, P00558
    Function: In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor
    protein (primer recognition protein)
    Catalytic activity: ATP + 3-phospho-D-glycerate = ADP + 3-phospho-D-glyceroyl phosphate

         Genatlas biochemistry entry for PGK1:
    phosphoglycerate kinase 1,glycolysis,energy pathway,key enzyme for ATP generation

         Enzyme Number (IUBMB): EC 2.7.2.31 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004618phosphoglycerate kinase activity ISS--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding ISS--
         
    Find genes that share ontologies with PGK1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PGK1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PGK1:
    hsa-mir-18a-3p (MIRT040970), hsa-mir-20a-5p (MIRT050550), hsa-mir-324-5p (MIRT043151)

    Block miRNA regulation of human, mouse, rat PGK1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PGK1 (see all 18):
    hsa-miR-495 hsa-miR-185* hsa-miR-450b-3p hsa-miR-548l hsa-miR-23b* hsa-miR-7-1* hsa-miR-3148 hsa-miR-365
    SwitchGear 3'UTR luciferase reporter plasmidPGK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PGK1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for PGK1 (see all 8)
    OriGene ORF clones in mouse, rat for PGK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PGK1 (NM_000291)
    Sino Biological Human cDNA Clone for PGK1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PGK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PGK1
    Addgene plasmids for PGK1 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PGK1

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12352) for PGK1 


    (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
    PGK1_HUMAN, P00558: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    chloroplast2
    cytoskeleton2
    mitochondrion2
    nucleus2
    extracellular1
    lysosome1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA11487543

    Find genes that share ontologies with PGK1           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 PGK1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    Glycolysis0.40
    Glycolysis and Gluconeogenesis0.60
    gluconeogenesis0.39
    Glycolysis / Gluconeogenesis0.46
    glycolysis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Glucose metabolism
    Glucose metabolism0.44
    Gluconeogenesis0.44
    4Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    5MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45


    Find genes that share SuperPaths with PGK1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for PGK1
        Glycolysis and gluconeogenesis (short map)

    Selected BioSystems Pathways for PGK1 (see all 6)
        Glycolysis and Gluconeogenesis
    glycolysis
    gluconeogenesis
    HIF-2-alpha transcription factor network
    HIF-1-alpha transcription factor network


    2 Reactome Pathways for PGK1
        Gluconeogenesis
    Glycolysis

    2 PharmGKB Pathways for PGK1
        Abacavir Pathway, Pharmacokinetics/Pharmacodynamics
    Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics

    5 Kegg Pathways  (Kegg details for PGK1):
        Glycolysis / Gluconeogenesis
    Metabolic pathways
    Carbon metabolism
    Biosynthesis of amino acids
    HIF-1 signaling pathway

    UniProtKB/Swiss-Prot: PGK1_HUMAN, P00558
    Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 2/5

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PGK1: 

              Housekeeping Genes PCR Array in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Huntington's Disease in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PGK1

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

    Selected Interacting proteins for PGK1 (P005581, 2, 3 ENSP000003624134) via UniProtKB, MINT, STRING, and/or I2D (see all 207)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GAPDHP044061, 2, 3, ENSP000002292394EBI-709599,EBI-354056 MINT-7386573 MINT-7386555 I2D: score=4 STRING: ENSP00000229239
    HSP90AB1P082382, 3MINT-72649 I2D: score=3 
    PCNAP120042, 3MINT-7995148 I2D: score=2 
    ENSG00000172850Q9Y3333, ENSP000003728834I2D: score=1 STRING: ENSP00000372883
    ENSG00000224979Q9Y3333, ENSP000004140064I2D: score=1 STRING: ENSP00000414006
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0006096glycolytic process TAS--
    GO:0016310phosphorylation ISS--

    Find genes that share ontologies with PGK1           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 PGK1

    5 HMDB Compounds for PGK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Phosphoglyceric acid2-(dihydrogen phosphate)Glycerate (see all 16)2553-59-5--
    3-Phosphoglyceric acid3-(dihydrogen phosphate)Glycerate (see all 21)820-11-1--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Glyceric acid 1,3-biphosphate1,3-Biphosphoglycerate (see all 25)1981-49-3--

    4 DrugBank Compounds for PGK1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    3-Phosphoglyceric Acid-- --target--17139284 17016423 10592235
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423 10592235
    Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate-- --target--17139284 17016423 10592235
    Lamivudine-- 134678-17-4enzymesubstrate19887088 15963349

    Selected Novoseek inferred chemical compound relationships for PGK1 gene (see all 30)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actb 81.3 9 18191039 (2), 19624860 (2), 19544972 (1), 19200351 (1)
    pgk2 80.2 3 8000135 (1), 8082204 (1), 18097579 (1)
    esperamicin a1 74.3 4 9398209 (3), 9485314 (1)
    zma 53.8 2 1570839 (1)
    glyceraldehyde 3-phosphate 50.7 10 16048908 (1), 18191039 (1), 18425382 (1), 19955839 (1) (see all 7)
    5-methylcytosine 45.6 2 7510422 (1), 9108075 (1)
    cytosine 42.9 3 2227409 (1), 7510422 (1), 1693431 (1)
    3-phosphoglycerate 39.2 3 1825830 (2), 8082204 (1)
    hpaii 37.2 2 7510422 (1), 8150459 (1)
    anthranilate 36.8 1 9398209 (1)



    Find genes that share compounds with PGK1           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 PGK1 gene: 
    NM_000291.3  

    Unigene Cluster for PGK1:

    Phosphoglycerate kinase 1
    Hs.78771  [show with all ESTs]
    Unigene Representative Sequence: NM_000291
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000477335 ENST00000491291 ENST00000373316(uc004ecz.4 uc011mqq.2)
    ENST00000474281 ENST00000476531 ENST00000442431 ENST00000537456
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PGK1 (see all 18):
    hsa-miR-495 hsa-miR-185* hsa-miR-450b-3p hsa-miR-548l hsa-miR-23b* hsa-miR-7-1* hsa-miR-3148 hsa-miR-365
    SwitchGear 3'UTR luciferase reporter plasmidPGK1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Addgene plasmids for PGK1 
    Primer
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    OriGene qPCR primer pairs and template standards for PGK1
    OriGene qSTAR qPCR primer pairs in human, mouse for PGK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PGK1
      QuantiTect SYBR Green Assays in human, mouse, rat PGK1
      QuantiFast Probe-based Assays in human, mouse, rat PGK1
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12352) for PGK1 

    Additional mRNA sequence: 

    AB062432.1 AK291081.1 AK295014.1 AK295182.1 AK298855.1 AK301632.1 AK301740.1 AK303848.1 
    AK310756.1 AK312280.1 AY423725.1 AY954500.1 AY954501.1 BC023234.1 BC103752.1 BC104837.1 
    BC113568.1 CR456716.1 L00160.2 S81916.1 V00572.1 

    Selected DOTS entries (see all 64):

    DT.100890567  DT.91835977  DT.100890602  DT.100890584  DT.97866139  DT.92326913  DT.92467800  DT.95140059 
    DT.97868057  DT.100034407  DT.100890600  DT.92467815  DT.100890531  DT.101985626  DT.91968505  DT.95140234 
    DT.92418769  DT.100890540  DT.86855065  DT.121302543  DT.95073826  DT.100890594  DT.121309981  DT.121309961 

    6 AceView cDNA sequences:

    CD608039 D28371 AL043806 CB116181 AA092523 CB149830 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PGK1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14
    SP1:                    -     -                                                                                 
    SP2:                                                                                                            
    SP3:                    -     -                                   -                                             
    SP4:                                                                                                            
    SP5:                    -     -                                                                                 


    ECgene alternative splicing isoforms for PGK1

    (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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    PGK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAACAAGAT
    PGK1 Expression
    About this image


    PGK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Cartilage (Muscoskeletal System)
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
    PGK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PGK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.78771
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PGK1: 
              Housekeeping Genes PCR Array in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Huntington's Disease 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 eukaryotes.

    Orthologs for PGK1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pgk11 , 5 phosphoglycerate kinase 11, 5 93.13(n)1
    97.84(a)1
      X (47.36 cM)5
    186551  NM_008828.21  NP_032854.21 
     1061871005 
    chicken
    (Gallus gallus)
    Aves PGK11 phosphoglycerate kinase 1 79.78(n)
    88.49(a)
      395833  NM_204985.1  NP_990316.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Phosphoglycerate kinase
    88(a)
    1 → many
    GL343465.1(735609-750645)
    African clawed frog
    (Xenopus laevis)
    Amphibia pgk1-prov2 phosphoglycerate kinase 1 78.78(n)    BC043781.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.8982 Danio rerio mRNA similar to phosphoglycerate kinase more 79.27(n)    BC046026.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pgk1 , 3 glycolysis phosphoglycerate kinase3
    Phosphoglycerate kinase1
    70(a)
    (best of 2)3
    66.67(n)1
    70.8(a)1
      23A33
    334611  NM_001273029.11  NP_001259958.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T03F1.33
    pgk-11
    phosphoglycerate kinase3
    pgk-11
    72(a)3
    65.3(n)1
    72.95(a)1
      I(3867554-3868959)3
    1719651  NM_058844.41  NP_491245.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PGK1(YCR012W)4
    PGK11
    3-phosphoglycerate kinase, catalyzes transfer of high-energy more4
    PGK11
    61.02(n)1
    66.1(a)1
      3(137746-138996)4
    8503701, 4  NP_009938.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G561901 AT1G56190 56.13(n)
    51.55(a)
      842072  NM_104498.3  NP_176015.1 


    ENSEMBL Gene Tree for PGK1 (if available)
    TreeFam Gene Tree for PGK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PGK1 gene
    PGK22  
    1 SIMAP similar gene for PGK1 using alignment to 3 protein entries:     PGK1_HUMAN (see all proteins):
    PGK2

    Find genes that share paralogs with PGK1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PGK1
    PGOHUM00000256904


    (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 PGK1 (see all 416)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0060864
    Phosphoglycerate kinase 1 deficiency (PGK1D)4--see VAR_0060862 C R mis40--------
    VAR_0060824
    Phosphoglycerate kinase 1 deficiency (PGK1D)4--see VAR_0060822 V M mis40--------
    VAR_0060804
    Phosphoglycerate kinase 1 deficiency (PGK1D)4--see VAR_0060802 R P mis40--------
    VAR_0060784
    Phosphoglycerate kinase 1 deficiency (PGK1D)4--see VAR_0060782 D V mis40--------
    VAR_0060844
    Phosphoglycerate kinase 1 deficiency (PGK1D)4--see VAR_0060842 D V mis40--------
    VAR_0060764
    Phosphoglycerate kinase 1 deficiency (PGK1D)4--see VAR_0060762 L P mis40--------
    VAR_0060774
    Phosphoglycerate kinase 1 deficiency (PGK1D)4--see VAR_0060772 G V mis40--------
    VAR_0060814
    Phosphoglycerate kinase 1 deficiency (PGK1D)4--see VAR_0060812 E A mis40--------
    VAR_0060854
    Phosphoglycerate kinase 1 deficiency (PGK1D)4--see VAR_0060852 D N mis40--------
    rs27465721,2
    C,F--77329260(+) AAGTAT/CCTCTG 1 -- us2k1 tfbs34Minor allele frequency- C:0.38NA WA CSA 8

    HapMap Linkage Disequilibrium report for PGK1 (77320685 - 77384793 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PGK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv483140CNV Gain15286789

    Human Gene Mutation Database (HGMD): PGK1
    Locus Specific Mutation Databases (LSDB): PGK1

    Site Specific Mutation Identification with PCR Assays
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    (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: 311800   
    OMIM disorders: 300653  
    UniProtKB/Swiss-Prot: PGK1_HUMAN, P00558
  • Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]: A condition with a highly variable clinical
    phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can
    express one or more of these manifestations. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 3 diseases for PGK1:    
    About MalaCards
    phosphoglycerate kinase deficiency    menkes disease    hemolytic anemia

    2 diseases from the University of Copenhagen DISEASES database for PGK1:
    Anemia     Cancer

    Find genes that share disorders with PGK1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PGK1 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    menkes disease 75.5 5 7959788 (2), 8406503 (1), 2035533 (1)
    anemia hemolytic 52.5 3 16857429 (1), 12956773 (1)
    mental retardation 30.1 2 16567715 (1)
    anemia aplastic 21.6 1 7579386 (1)
    colon carcinoma 14.2 2 8180230 (1), 18603805 (1)
    tumors 13.8 18 16048908 (2), 15355913 (2), 20068185 (2), 16493704 (2) (see all 9)
    cleft palate 8.57 1 1570839 (1)
    cancer 4.86 13 18569371 (3), 19689405 (1), 16313824 (1), 20068185 (1) (see all 6)
    neurodegenerative diseases 3.23 1 15673657 (1)
    metastasis 2.59 2 19200351 (1)

    Genatlas disease: PGK1
    hemolytic anemia

    Genetic Association Database (GAD): PGK1
    Human Genome Epidemiology (HuGE) Navigator: PGK1 (1 document)

    Export disorders for PGK1 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 PGK1 gene, integrated from 10 sources (see all 265):
    (articles sorted by number of sources associating them with PGK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence of the promoter region of the gene for human X-linked 3- phosphoglycerate kinase]. (PubMed id 6099325)1, 2, 3 Singer-Sam J.... Riggs A.D. (Gene 1984)
    2. Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase. (PubMed id 6188151)1, 2, 3 Michelson A.M.... Orkin S.H. (Proc. Natl. Acad. Sci. U.S.A. 1983)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    5. 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. (Genome Res. 2004)
    6. Short tandem repeat polymorphism linkage to the androgen receptor gene in prostate carcinoma. (PubMed id 11745195)1, 4 Riley D.E. and Krieger J.N. (Cancer 2001)
    7. A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships. (PubMed id 9744480)1, 2 Valentin C....Cohen-Solal M. (Hum. Mutat. 1998)
    8. Hematologically important mutations: molecular abnormalities of phosphoglycerate kinase. (PubMed id 9075577)1, 2 Yoshida A. (Blood Cells Mol. Dis. 1996)
    9. Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant. (PubMed id 8615693)1, 2 Ookawara T.... Yoshida A. (Arch. Biochem. Biophys. 1996)
    10. Molecular abnormality of a phosphoglycerate kinase variant (PGK- Alabama). (PubMed id 8673469)1, 2 Yoshida A.... Beutler E. (Blood Cells Mol. Dis. 1995)

    (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: 5230 HGNC: 8896 AceView: PGK1.1 Ensembl:ENSG00000102144 euGenes: HUgn5230
    ECgene: PGK1 Kegg: 5230 H-InvDB: PGK1

    (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 PGK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PGK1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PGK1[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=PGK1
    Wikipedia http://en.wikipedia.org/wiki/Phosphoglycerate_kinase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PGK1 gene:
    Search GeneIP for patents involving PGK1

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



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