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PGK1 Gene

protein-coding   GIFtS: 73

GC0XP077246
phosphoglycerate kinase 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for PGK1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

  User Feedback
Aliases & Descriptions
phosphoglycerate kinase 11 2     MGC1173072
PGKA2 3 5     MIG102
Cell migration-inducing gene 10 protein2 3     MGC89472
Primer recognition protein 22 3     MGC1421282
PRP 22 3     EC 2.7.2.33

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

Search outside databases for aliases for PGK1 gene

Previous GC identifers: GC0XP072905 GC0XP074321 GC0XP075400 GC0XP076115 GC0XP077165

Summaries
for PGK1 gene

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

  User Feedback		 Entrez Gene summary for PGK1:
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)

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

Genomic Views
for PGK1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the PGK1 gene upstream (promoter) region "":
GATA-1   POU2F1   Pbx1a   ZID   ISGF-3   E4BP4   SRF   IRF-7A   TBP   LCR-F1   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for PGK1:  ""
MePH27766-1A   

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

Entrez Gene cytogenetic band: Xq13   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)
""

GeneLoc gene densities for 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
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  

Proteins
for PGK1 gene

(According to 1UniProtKB, 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, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 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
PDB structures from "" and Proteopedia "" :
2ZGV (3D) ""    3C39 (3D) ""    3C3A (3D) ""    3C3B (3D) ""    3C3C (3D) ""    
Secondary accessions: Q5J7W1 Q6IBT6 Q8NI87

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_000282.1  

    ENSEMBL proteins: 
    ENSP00000390406 ENSP00000405452 ENSP00000395896 ENSP00000362413 


    Human Recombinant Proteins 
    ""Browse Purified and Recombinant Proteins at Millipore
    ""Browse Human Recombinant Proteins at Sigma-Aldrich
    ""R&D Systems Recombinant & Natural Proteins for PGK1 (Phosphoglycerate kinase-1/PGK1)
    ""Enzo Life Sciences proteins for PGK1
    ""HuPro® and/or Recombinant Proteins from Abnova for PGK1 ""
    ""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
    ""Novus Biologicals Proteins for PGK1  ""
    ""Browse Sino Biological Recombinant Proteins  ""

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    About this table

    "" PGK1 for ontologies           About GeneDecksing



    Antibodies for PGK1: 
    ""Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    ""Sigma-Aldrich Antibodies for PGK1
    ""R&D Systems Antibodies for PGK1 (Phosphoglycerate kinase-1/PGK1)
    ""Monoclonal and Polyclonal Antibodies from Abnova (PGK1)
    ""Browse Origene Antibodies ""
    ""Novus Biologicals Antibodies for PGK1
    ""Browse antibodies at Epitomics

    Assays for PGK1: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Enzo Life Sciences assays for PGK1

    Protein Domains/
    Families
    for PGK1 gene

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

      User Feedback
    "" PGK1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB001576 Phosphoglycerate kinase

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

    Gene Function
    for PGK1 gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (PGK1)
    "" Origene 29mer shRNA kits in GFP-retroviral vector: PGK1
    Origene shRNA RFP: PGK1
    Origene basic RS shRNA: PGK1

    ""Applied Biosystems Silencer® siRNAs for PGK1
    ""Sigma-Aldrich siRNA Panels and siRNA for PGK1
    Sigma-Aldrich shRNA Panels and shRNA for PGK1
    Explore Sigma-Aldrich super-pooled esiRNAs
    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: PGK1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: PGK1
    Origene untagged cDNA clones in CMV expression vector: PGK1
    ""Browse Sino Biological Human cDNA Clones  ""

    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)
    Catalytic activity: ATP + 3-phospho-D-glycerate = ADP + 3-phospho-D-glyceroyl phosphate
    Enzyme Number (IUBMB): EC 2.7.2.3 

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

    4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0004618 phosphoglycerate kinase activity ISS--
    GO:0005524 ATP binding ISS--
    GO:0016740 transferase activity IEA--
    About this table

    "" PGK1 for ontologies           About GeneDecksing

    Pathways & Interactions
    for PGK1 gene

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

      User Feedback
    "" PGK1 for pathways           About GeneDecksing

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

    1 "" Sigma-Aldrich "Your Favorite Gene" Pathway for  PGK1  (Your Favorite Gene powered by Ingenuity)
      ""  Glycolysis/Gluconeogenesis

    2 "" Kegg Pathways  (Kegg details for PGK1):
      ""  hsa00010 Glycolysis / Gluconeogenesis
    hsa01100 Metabolic pathways

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

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PGK1

    5/12 Interacting proteins for PGK1 (ENSP000003624133 P005582) via UniProtKB, MINT, and/or STRING (see all 12 ) ""

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GAPDHP044062STRING: ENSP00000229239 MINT-7386573 MINT-7386555
    HSP90AB1P082382MINT-72649
    YWHAZP631042MINT-3319004
    ARNTENSP000003156373STRING: ENSP00000315637
    BPGMENSP000003420323STRING: ENSP00000342032
    About this table

    2 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006096 glycolysis IEA--
    GO:0016310 phosphorylation ISS--
    About this table

    "" PGK1 for ontologies           About GeneDecksing


    Drugs & Compounds
    for PGK1 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

      User Feedback
    "" PGK1 for compounds           About GeneDecksing

    "" Enzo Life Sciences drugs & compounds for PGK1
    ""Browse Small Molecules at Sigma-Aldrich

    "" Browse Tocris compounds for PGK1
    10/102 ""Novoseek chemical compound relationships for PGK1 gene (see all 102 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoglycerate 100.00 260 8702901 (3), 8022811 (3), 17339532 (3), 7828918 (2) (see all 100)
    actb 17.77 7 19624860 (2), 20036692 (1), 19544972 (1), 19200351 (1) (see all 6)
    esperamicin a1 11.01 4 9398209 (3), 9485314 (1)
    glyceraldehyde 3-phosphate 10.54 10 19955839 (1), 18945221 (1), 18456264 (1), 18425382 (1) (see all 10)
    pgk2 8.42 3 8082204 (1), 8000135 (1), 18097579 (1)
    hypoxanthine 6.63 7 2846237 (1), 2761535 (1), 1855386 (1), 16984641 (1) (see all 7)
    hpaii 6.41 4 1697035 (2), 8150459 (1), 7510422 (1)
    hmbs 4.89 2 20036692 (1), 19544972 (1)
    56495 3.29 1 3455737 (1)
    dihydrolipoamide 3.11 2 16729985 (1), 15996793 (1)
    About this table


    Transcripts
    for PGK1 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    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 and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (PGK1)
    ""Applied Biosystems Silencer® siRNAs:  NM_000291  
    "" Origene 29mer shRNA kits in GFP-retroviral vector: PGK1
    Origene shRNA RFP: PGK1
    Origene basic RS shRNA: PGK1

    ""Sigma-Aldrich siRNA Panels and siRNA for PGK1
    Sigma-Aldrich shRNA Panels and shRNA for PGK1
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""1 SABiosciences microRNA that regulate PGK1: ""
    hsa-miR-143
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_000291  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector: PGK1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: PGK1
    Origene untagged cDNA clones in CMV expression vector: PGK1
    Primers:"" Origene genome-wide validated SYBR primer pairs: PGK1
    ""SABiosciences RT2 qPCR Primer Assay for PGK1: PPH02049A ""

    REFSEQ mRNAs for PGK1 gene: 

    NM_000291.3  

    Additional cDNA 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 CR590085.1 CR590364.1 CR590879.1 CR591158.1 CR593737.1 CR595690.1 
    CR596685.1 CR596706.1 CR597247.1 CR598309.1 CR601290.1 CR601327.1 CR601871.1 CR604126.1 
    CR606362.1 CR606423.1 CR607408.1 CR609470.1 CR610216.1 CR611469.1 CR611546.1 CR611724.1 
    CR611898.1 CR612230.1 CR613425.1 CR614274.1 CR614584.1 CR615535.1 CR615930.1 CR616721.1 
    CR616934.1 CR617423.1 CR617618.1 CR617883.1 CR619469.1 CR619774.1 CR620229.1 CR620885.1 
    CR621547.1 CR621652.1 CR621871.1 CR622033.1 CR622489.1 CR622579.1 CR622615.1 CR623053.1 
    CR623282.1 CR623513.1 CR623619.1 CR624213.1 CR624591.1 CR625638.1 L00160.2 L33811.1 
    S81916.1 V00572.1 

    24/72 DOTS entries (see all 72 ):

    DT.100890567  DT.91835977  DT.100890602  DT.100890584  DT.97866139  DT.92467800  DT.92326913  DT.95140059 
    DT.97868057  DT.100034407  DT.100890600  DT.92467815  DT.100890531  DT.101985626  DT.91968505  DT.95140234 
    DT.92418769  DT.100890540  DT.95073826  DT.121302543  DT.423691  DT.100890594  DT.121309981  DT.86855065 

    6 AceView cDNA sequences:

    D28371 CD608039 AL043806 CB116181 AA092523 CB149830 

    "" highest scoring ESTs for PGK1:

    V00572 AA017158 AA019458 AA022914 AA037370 AA069778 AA081087 AA090403 AA100055 AA133101 

    Unigene Cluster for PGK1:

    Phosphoglycerate kinase 1
    Hs.78771  [show with all ESTs]
    Unigene Representative Sequence: NM_000291


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PGK1 (see all 7 )

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

    About this scheme

    ECgene alternative splicing isoforms for PGK1

    8 Ensembl transcripts including schematic representations:
    ENST00000450919  ENST00000442431  ENST00000444876  ENST00000476531  ENST00000491291  ENST00000477335  
    ENST00000373316  ENST00000474281  

    Expression
    for PGK1 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 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    PGK1 expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for PGK1

    1""  / 2""  / 3""

    11 probe-sets matching PGK1 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    37677_at2, 3 U95-A 1 1.00 1.00 0.95 1.27 V00572 1.00 1.00 1.00 1
    31488_s_at2, 3 U95-A 3 1.00 0.86 0.94 0.77 S81916 0.80 1.00 0.91 1
    91445_at2, 3 U95-E 1 0.62 1.00 0.69 0.97 AI560159 0.80 1.00 0.91 1
    200737_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000291 0.60 1.00 0.82 1
    227068_at2, 3 U133-B 1 1.00 1.00 -- -- AA069778 0.80 1.00 0.91 1
    200738_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000291 0.60 1.00 0.82 1
    217356_s_at2, 3 U133-A 2 1.00 0.91 -- -- S81916 0.80 1.00 0.91 1
    200737_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    227068_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    200738_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    217356_s_at2 U133Plus2 2 1.00 0.91 -- -- -- -- -- -- --
    About this table

    "" PGK1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GAAACAAGAT

    SOURCE GeneReport for Unigene cluster: Hs.78771

    Expression variation in blood from EXPOLDB for PGK1

    Primers:"" Origene genome-wide validated SYBR primer pairs: PGK1 ""
    ""SABiosciences RT2 qPCR Primer Assay for PGK1: PPH02049A ""

    Orthologs
    for PGK1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

      User Feedback
    Orthologs for PGK1 gene from 5/20 species (see all 20 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 PGK11   -- phosphoglycerate kinase 1 93.69(n)
    96.4(a)    		 480964  XM_844899.1  XP_849992.1 
    cow
    (Bos taurus)    		 PGK11   -- phosphoglycerate kinase 1 94.32(n)
    97.12(a)    		 507476  NM_001034299.1  NP_001029471.1 
    rat
    (Rattus norvegicus)    		 Pgk11   -- phosphoglycerate kinase 1 92.73(n)
    97.36(a)    		 24644  NM_053291.2  NP_445743.2 
    mouse
    (Mus musculus)    		 Pgk11, 5 X (45.00 cM)5
    		 phosphoglycerate kinase 11, 5 93.13(n)1
    97.84(a)1    		 186551  NM_008828.21  NP_032854.21 
     AK1338775  AK1458465  (see all 32)
    chicken
    (Gallus gallus)    		 PGK11   -- phosphoglycerate kinase 1 79.78(n)
    88.49(a)    		 395833  NM_204985.1  NP_990316.1 
    About this table        Species with no ortholog for PGK1

    ENSEMBL Gene Tree for PGK1

    Paralogs
    for PGK1 gene

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

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    Paralogs for PGK1 gene
    PGK22  

    "" PGK1 for paralogs           About GeneDecksing


    Genomic Variants
    for PGK1 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, Genotyping Reagents from Applied Biosystems)
    About This Section

      User Feedback
    10/17 NCBI SNPs in PGK1 are shown (see all 17 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 7)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    --
    rs26435861,2
    		C,F70944278(-) AAGGCG/AGTTTC 1 -- ng51""4Minor allele frequency- A:0.23NA 146""
    --
    rs166571,2
    		F77382281(-) CAGCT-/GTGA  
                GTATT     		1 -- ut31""4Minor allele frequency- GTGA:0.25EU NA EA 342""
    --
    rs59136381,2
    		C77369627(+) GAAGAA/CGGGAA 2 E D ref1 mis1 trp3""4Minor allele frequency- C:0.00NS EA 418""
    --
    rs11364571,2
    		F77382154(+) TTTTTA/TTTTTT 1 -- ut31""1Minor allele frequency- T:0.10MN 184""
    --
    rs27465721,2
    		F70943999(+) AAGTAC/TCTCTG 1 -- ng51 tfbs3""1Minor allele frequency- T:0.50NA 4""
    ""
    rs22847521,2
    		C,F,O70956892(+) TTGCTG/ACAGTA 1 -- int1""5Minor allele frequency- A:0.21NA 324""
    --
    rs20766301,2
    		C,F,O70959509(+) AGCAAA/GTTGAG 1 -- int1""3Minor allele frequency- G:0.26NA 142""
    ""
    rs48262481,2
    		C,F,A70958554(+) TACCTT/CTTTGT 1 -- int1""12Minor allele frequency- C:0.35NS EA NA 877""
    --
    rs7176891,2
    		C,F,A70966214(-) tgttgG/Agaatg 1 -- int1""12Minor allele frequency- A:0.13EA NA NS 799""
    ""
    rs22847531,2
    		C,F,A70957749(+) CCTTGC/TAGGGA 1 -- int1""10Minor allele frequency- T:0.42NS EA NA 745""
    About this table

    HapMap Linkage Disequilibrium images for PGK1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
    Database of Genomic Variants (DGV): 1 variation for PGK1
         1 CNV: 0245

    Disorders & Mutations
    for PGK1 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, BCGD, and/or TGDB.)
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    "" PGK1 for disorders           About GeneDecksing

    OMIM: 311800   disorders: 300653  

    UniProtKB/Swiss-Prot: PGK1_HUMAN, P00558

  • Defects in PGK1 are generally associated with chronic hemolytic anemia [MIM:300653]; although it can be
    • accompanied by either mental retardation or muscular disease (rhabdomyolysis)

    10/85 ""Novoseek disease relationships for PGK1 gene (see all 85 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    pgk1 deficiency 15.52 4 12956773 (3), 17661373 (1)
    phosphoglycerate kinase (pgk) deficiency 14.19 5 17661373 (3), 19157875 (1), 16671097 (1)
    menkes 7.22 5 7959788 (2), 8406503 (1), 2035533 (1), 1427884 (1)
    peritoneal carcinomatosis 5.22 4 19688824 (3), 18453750 (1)
    pancreatic ductal adenocarcinoma 5.07 4 16493704 (4)
    myoglobinuria, recurrent 5.05 2 16567715 (2)
    cleft palate, x-linked 2.79 1 1570839 (1)
    isodicentric chromosome 2.60 1 1879836 (1)
    embryonal carcinoma 2.39 3 1998141 (2), 2560217 (1)
    hypospadias; perineal 2.38 1 11745195 (1)
    About this table

    1 PharmGKB disease relationship for PGK1 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872 12730115
    About this table

    Genatlas disease: PGK1
    hemolytic anemia

    Locus Specific Mutation Databases: PGK1
    Human Gene Mutation Database: PGK1
    Genetic Association Database: PGK1
    Human Genome Epidemiology Navigator: PGK1 (1 document)

    Medical News
    for PGK1 gene

    (Possibly Related Articles in Doctor's Guide)
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    Publications
    for PGK1 gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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      User Feedback    		10/207 PubMed articles for PGK1 gene (see all 207 ):

    Search for PGK1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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    Genome Databases showing PGK1 gene

    (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

    Other Databases showing PGK1 gene

    (According to HUGE)
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    Specialized Databases showing PGK1 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    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

    Intellectual Property
    for PGK1 gene

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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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      User Feedback    		Patent Information for PGK1 gene: ""
    Search GeneIP for patents involving PGK1

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