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

PGK1 Gene

protein-coding   GIFtS: 75
GCID: GC0XP077246

Phosphoglycerate Kinase 1

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Phosphoglycerate Kinase 11 2     PRP 22 3
PGKA2 3 5     EC 2.7.2.33 8
Cell Migration-Inducing Gene 10 Protein2 3     MIG102
Primer Recognition Protein 22 3     

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

Export aliases for PGK1 gene to outside databases

Previous GC identifers: GC0XP072905 GC0XP074321 GC0XP075400 GC0XP076115 GC0XP077165 GC0XP070945


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

Entrez Gene summary for 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. This gene lies on the
X-chromosome, while a related pseudogene also has been found on the X-chromosome and another on chromosome 19.
(provided by RefSeq, Oct 2008)

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, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Metabolic pathways. GO annotations related to this gene include phosphoglycerate kinase activity and ATP binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PGK1

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

UniProtKB/Swiss-Prot: PGK1_HUMAN, P00558 (See protein sequence)
Recommended Name: Phosphoglycerate kinase 1  
Size: 417 amino acids; 44615 Da
Subunit: Monomer
Subcellular location: Cytoplasm
6/16 PDB 3D structures from and Proteopedia for PGK1 (see all 16):
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00558

  • 4/33 DME Specific Peptides for PGK1 (P00558) (see all 33)
     ITNNQRI  KIVKDLM  LLENLRF  RVDFNVP 

    PGK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PGK1 Protein Expression
    REFSEQ proteins: NP_000282.1  
    ENSEMBL proteins: 
     ENSP00000362413   ENSP00000405452   ENSP00000444708  
    Reactome Protein details: P00558
    Human Recombinant Protein Products for PGK1: 
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    Cloud-Clone Corp. Proteins for PGK1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    PGK1 for ontologies           About GeneDecksing



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


    PGK1 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004618phosphoglycerate kinase activity ISS--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding ISS--
         
    PGK1 for ontologies           About GeneDecksing


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

    SuperPaths for PGK1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    Glycolysis and gluconeogenesis (short map)0.60
    Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46
    Glycolysis and Gluconeogenesis0.60
    Glycolysis / Gluconeogenesis0.46
    glycolysis0.50
    gluconeogenesis0.39
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Glucose metabolism
    Glucose metabolism0.50
    Glycolysis0.44
    Gluconeogenesis0.50
    4Carbon metabolism
    Carbon metabolism0.37
    Biosynthesis of amino acids0.37
    5MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PGK1
        Glycolysis and gluconeogenesis (short map)


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

    5/6 BioSystems Pathways for PGK1 (see all 6)
        Glycolysis and Gluconeogenesis
    gluconeogenesis
    glycolysis
    HIF-1-alpha transcription factor network
    HIF-2-alpha transcription factor network


    5        Reactome Pathways for PGK1
        Gluconeogenesis
    Metabolism of carbohydrates
    Metabolism
    Glucose metabolism
    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


    PGK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PGK1

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

    5/143 Interacting proteins for PGK1 (P005582, 3 ENSP000003624134) via UniProtKB, MINT, STRING, and/or I2D (see all 143)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GAPDHP044062, 3, ENSP000002292394MINT-7386573 MINT-7386555 I2D: score=4 STRING: ENSP00000229239
    HSP90AB1P082382, 3MINT-72649 I2D: score=3 
    PCNAP120042, 3MINT-7995148 I2D: score=2 
    ENSG00000172850Q9Y3333I2D: score=1 
    ENSG00000224979Q9Y3333I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

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

    PGK1 for ontologies           About GeneDecksing



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

    PGK1 for compounds           About GeneDecksing

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

    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

    10/30 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)

    Search CenterWatch for drugs/clinical trials and news about PGK1

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

    REFSEQ mRNAs for 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

    24/64 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

    5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PGK1 expression in normal human tissues (normalized intensities)      PGK1 embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             ganglion/cranial/facial VII   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             heart/ventricle   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Intervertebral Disc Nucleus Pulposus Cells Sacral Intervertebral Disc
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             neutrophils   

    See PGK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PGK1

    SOURCE GeneReport for Unigene cluster: Hs.78771
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PGK1 gene from 8/22 species (see all 22)    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_057328.31  NP_476676.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T03F1.33
    pgk-11
    phosphoglycerate kinase3
    Protein PGK-11
    72(a)3
    65.3(n)1
    72.95(a)1
      I(3867554-3868959)3
    1719651  NM_058844.31  NP_491245.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PGK1(YCR012W)4
    PGK11
    3-phosphoglycerate kinase, catalyzes transfer of high-energy more4
    Pgk1p1
    61.02(n)1
    66.1(a)1
      3(137746-138996)4
    8503701, 4  NP_009938.21, 4 


    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)
    About This Section
    Paralogs for PGK1 gene
    PGK22  
    1 SIMAP similar gene for PGK1 using alignment to 3 protein entries:     PGK1_HUMAN (see all proteins):
    PGK2

    PGK1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/416 SNPs in PGK1 are shown (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--------
    VAR_0060834
    ----see VAR_0060832 D N mis40--------

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

  • 20/52 diseases for PGK1 (see all 52):    About MalaCards
    phosphoglycerate kinase deficiency    menkes disease    hemangioma of lung    adenosquamous carcinoma
    anoxia    hemangioma    sclerosing hemangioma    progressive supranuclear palsy
    cleft palate    klinefelter's syndrome    chronic fatigue syndrome    agammaglobulinemia
    clear cell renal cell carcinoma    aplastic anemia    charcot-marie-tooth neuropathy    neuroendocrine carcinoma
    endocarditis    hemolytic anemia    candidiasis    anemia

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

    PGK1 for disorders           About GeneDecksing


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

    10/17 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)
    About This Section

    PubMed articles for PGK1 gene, integrated from 9 sources (see all 260):
    (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. (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. (1983)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (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. (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. (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. (1998)
    8. Hematologically important mutations: molecular abnormalities of phosphoglycerate kinase. (PubMed id 9075577)1, 2 Yoshida A. (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. (1996)
    10. Molecular abnormality of a phosphoglycerate kinase variant (PGK- Alabama). (PubMed id 8673469)1, 2 Yoshida A.... Beutler E. (1995)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5230 HGNC: 8896 AceView: PGK1.1 Ensembl:ENSG00000102144 euGenes: HUgn5230
    ECgene: PGK1 Kegg: 5230 H-InvDB: PGK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PGK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PGK1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PGK1
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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