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

PKLR Gene

protein-coding   GIFtS: 68
GCID: GC01M155259

Pyruvate Kinase, Liver And RBC

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
Pyruvate Kinase, Liver And RBC1 2     PKR2
PK12 3 5     PKRL2
Pyruvate Kinase 12 3     RPK2
Pyruvate Kinase Isozymes L/R2 3     Pyruvate Kinase Isozyme R/L2
Red Cell/Liver Pyruvate Kinase2 3     Pyruvate Kinase Isozymes R/L2
PKL2 3     Pyruvate Kinase PKLR2
R-Type/L-Type Pyruvate Kinase2 3     Pyruvate Kinase Type L2
EC 2.7.1.403 8     Pyruvate Kinase, Liver And Blood Cell2

External Ids:    HGNC: 90201   Entrez Gene: 53132   Ensembl: ENSG000001436277   OMIM: 6097125   UniProtKB: P306133   

Export aliases for PKLR gene to outside databases

Previous GC identifers: GC01M153117 GC01M151000 GC01M152037 GC01M152476 GC01M152072 GC01M153526 GC01M126621


(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 PKLR Gene:
The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of
phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this
enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic
hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for PKLR Gene: 
PKLR (pyruvate kinase, liver and RBC) is a protein-coding gene. Diseases associated with PKLR include pyruvate kinase deficiency, and adenosine triphosphate, elevated, of erythrocytes, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Regulation of beta-cell development. GO annotations related to this gene include pyruvate kinase activity and magnesium ion binding. An important paralog of this gene is PKM.

UniProtKB/Swiss-Prot: KPYR_HUMAN, P30613
Function: Plays a key role in glycolysis (By similarity)

Gene Wiki entry for PKLR 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_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PKLR gene promoter:
         SEF-1 (1)   NF-kappaB1   NF-kappaB   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PKLR promoter sequence
   Search SABiosciences Chromatin IP Primers for PKLR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKLR


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

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q22

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M155259:  view genomic region     (about GC identifiers)

Start:
155,259,084 bp from pter      End:
155,271,225 bp from pter
Size:
12,142 bases      Orientation:
minus strand

1 alternative location:
Chr1-,NW_003315906 94,316-106,457     

(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: KPYR_HUMAN, P30613 (See protein sequence)
Recommended Name: Pyruvate kinase PKLR  
Size: 574 amino acids; 61830 Da
Cofactor: Magnesium
Cofactor: Potassium
Subunit: Homotetramer
Miscellaneous: There are 4 isozymes of pyruvate kinase in mammals: L, R, M1 and M2. L type is major isozyme in the
liver, R is found in red cells, M1 is the main form in muscle, heart and brain, and M2 is found in early fetal
tissues
6 PDB 3D structures from and Proteopedia for PKLR:
2VGB (3D)        2VGF (3D)        2VGG (3D)        2VGI (3D)        4IMA (3D)        4IP7 (3D)    
Secondary accessions: P11973
Alternative splicing: 2 isoforms:  P30613-1   P30613-2   

Explore the universe of human proteins at neXtProt for PKLR: NX_P30613

Explore proteomics data for PKLR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P30613

  • 4/19 DME Specific Peptides for PKLR (P30613) (see all 19)
     DDGLISL  RLNFSHG  MLSGETA  LDIDSEP 

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

    PKLR Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000289.1  NP_870986.1  

    ENSEMBL proteins: 
     ENSP00000376214   ENSP00000339933   ENSP00000398037  
    Reactome Protein details: P30613
    Human Recombinant Protein Products for PKLR: 
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    Novus Biologicals PKLR Proteins
    Novus Biologicals PKLR Lysates
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for PKLR
    Browse Proteins at Cloud-Clone Corp. 

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

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

    PKLR 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
    5/8 InterPro protein domains (see all 8):
     IPR015806 Pyrv_Knase_insert_dom
     IPR015794 Pyrv_Knase_a/b
     IPR015795 Pyrv_Knase_C
     IPR018209 Pyrv_Knase_AS
     IPR015813 Pyrv/PenolPyrv_Kinase-like_dom

    Graphical View of Domain Structure for InterPro Entry P30613

    ProtoNet protein and cluster: P30613

    1 Blocks protein domain: IPB001697 Pyruvate kinase

    UniProtKB/Swiss-Prot: KPYR_HUMAN, P30613
    Similarity: Belongs to the pyruvate kinase family


    PKLR 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: KPYR_HUMAN, P30613
    Function: Plays a key role in glycolysis (By similarity)
    Catalytic activity: ATP + pyruvate = ADP + phosphoenolpyruvate
    Enzyme regulation: Allosterically activated by fructose 1,6-bisphosphate

         Genatlas biochemistry entry for PKLR:
    pyruvate kinase,homotetramer of 50.60kDa subunit,with two forms,one liver specific,the other erythrocyte
    specific,transcribed from a distinct promoter,glycolysis,energy pathway,generating ATP from ADP

         Enzyme Number (IUBMB): EC 2.7.1.401 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0003824catalytic activity ----
    GO:0004743pyruvate kinase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0030955potassium ion binding IEA--
         
    PKLR for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PKLR:
     Decreased POU5F1-GFP protein e  Increased circadian period len 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pklr):
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  normal 

    PKLR for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PKLR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PKLR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PKLR 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PKLR 

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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate PKLR:
    hsa-miR-1266 hsa-miR-629 hsa-miR-4297 hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidPKLR 3' UTR sequence
    Inhib. RNA
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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 PKLR About   (see all 17)                                                                                              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
    2Regulation of beta-cell development
    Regulation of beta-cell development0.56
    Regulation of gene expression in beta cells0.56
    Maturity onset diabetes of the young0.56
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Glucose metabolism
    Glucose metabolism0.50
    Glycolysis0.44
    5Carbon metabolism
    Carbon metabolism0.37
    Biosynthesis of amino acids0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for PKLR
        G-protein signaling G-Protein alpha-s signaling cascades
    Glycolysis and gluconeogenesis (short map)


    2 GeneGo (Thomson Reuters) Pathways for PKLR
        G-protein signaling G-Protein alpha-s signaling cascades
    Glycolysis and gluconeogenesis (short map)

    4 BioSystems Pathways for PKLR
        Glycolysis and Gluconeogenesis
    glycolysis
    FOXA2 and FOXA3 transcription factor networks
    Conversion of glucose to acetyl CoA and entry into the TCA cycle


    5/9        Reactome Pathways for PKLR (see all 9)
        Developmental Biology
    Metabolism of carbohydrates
    Metabolism
    Regulation of beta-cell development
    Integration of energy metabolism

    1 PharmGKB Pathway for PKLR
        Abacavir Pathway, Pharmacokinetics/Pharmacodynamics

    5/10         Kegg Pathways  (Kegg details for PKLR) (see all 10):
        Glycolysis / Gluconeogenesis
    Purine metabolism
    Pyruvate metabolism
    Metabolic pathways
    Carbon metabolism

    UniProtKB/Swiss-Prot: KPYR_HUMAN, P30613
    Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 5/5


    PKLR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PKLR

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

    5/182 Interacting proteins for PKLR (P306133 ENSP000003399334) via UniProtKB, MINT, STRING, and/or I2D (see all 182)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKMP146183, ENSP000003201714I2D: score=3 STRING: ENSP00000320171
    CLEC4GQ6UXB43, ENSP000003275994I2D: score=2 STRING: ENSP00000327599
    ARHGEF6Q150523, ENSP000002506174I2D: score=1 STRING: ENSP00000250617
    ENSG00000258947Q135093I2D: score=1 
    KIF23Q022413, ENSP000002603634I2D: score=1 STRING: ENSP00000260363
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006096glycolysis TAS--
    GO:0006112energy reserve metabolic process TAS--

    PKLR 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

    PKLR for compounds           About GeneDecksing

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

    Browse Tocris compounds for PKLR (KPYR)

    10/19 HMDB Compounds for PKLR (see all 19)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CDPCDP (see all 3)63-38-7--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    IDP5'-IDP (see all 10)86-04-4--
    Inosine triphosphateinosine 5'-(tetrahydrogen triphosphate) (see all 13)132-06-9--
    MagnesiumMagnesium (see all 2)7439-95-4--

    3 DrugBank Compounds for PKLR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyruvic acid2-Oxopropanoate (see all 8)127-17-3target--16720364 17547515 16644726 16365052 17574881
    2-Phosphoglycolic Acid-- 13147-57-4target--17139284 17016423
    Fructose-1,6-Diphosphate-- --target--17139284 17016423

    10/12 Novoseek inferred chemical compound relationships for PKLR gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyruvate 88.7 86 8005587 (2), 9827908 (2), 11054094 (2), 15059150 (2) (see all 66)
    phosphoenolpyruvate 43 2 15585594 (1), 2210156 (1)
    glucose 39.5 26 17160355 (2), 9680311 (1), 9822613 (1), 11833461 (1) (see all 17)
    carbohydrates 28 2 11833461 (1), 11498026 (1)
    alpha-ketoglutarate 24.4 2 10944108 (1), 10967120 (1)
    phenylalanine 16.8 2 1301225 (1), 1301944 (1)
    glyceraldehyde 3-phosphate 15.9 1 9006960 (1)
    glycogen 8.56 1 15585594 (1)
    atp 1.64 1 9090535 (1)
    tyrosine 0 5 16000375 (3), 19776348 (1)

    Search CenterWatch for drugs/clinical trials and news about PKLR / KPYR

    (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,
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    About This Section

    REFSEQ mRNAs for PKLR gene (2 alternative transcripts): 
    NM_000298.5  NM_181871.3  

    Unigene Cluster for PKLR:

    Pyruvate kinase, liver and RBC
    Hs.95990  [show with all ESTs]
    Unigene Representative Sequence: NM_000298
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392414(uc001fka.4 uc010pga.1 uc001fkb.4) ENST00000342741
    ENST00000434082
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKLR

    Additional mRNA sequence: 

    AB015983.1 AK225947.1 AK298399.1 BC025737.1 M15465.1 S60712.1 

    2 DOTS entries:

    DT.453928  DT.92424483 

    24/40 AceView cDNA sequences (see all 40):

    AW237441 AI249720 BE552145 BX284102 AB015983 NM_181871 NM_000298 R91646 
    BC025737 AV648758 W93388 AI478290 AI471865 AI032950 BG674807 BG426381 
    BG545145 AI081717 BF110802 AV649105 BI838803 M15465 BE501569 AW518614 

    GeneLoc Exon Structure


    (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

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


    PKLR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Periportal Hepatocytes Liver Lobule
             Liver Lobule
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 3 entries
             small intestine ; glandular cells   
             ileum   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Bone Marrow CD105+ Cells   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
             kidney ; cells in tubules   

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

    SOURCE GeneReport for Unigene cluster: Hs.95990
        SABiosciences Expression via Pathway-Focused PCR Arrays including PKLR: 
              Insulin Signaling Pathway in human mouse rat
              Fatty Liver in human mouse rat
              Glucose Metabolism in human mouse rat
              Drug Metabolism in human mouse rat

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    In Situ
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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 eukaryotes.

    Orthologs for PKLR gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pklr1 , 5 pyruvate kinase liver and red blood cell1, 5 86.35(n)1
    91.81(a)1
      3 (39.01 cM)5
    187701  NM_013631.21  NP_038659.21 
     891361425 
    zebrafish
    (Danio rerio)
    Actinopterygii BC055561.12   -- 75.04(n)   114551  BC055561.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta PyK6
    CG29646
    (see all 4)
    --
    57(a)
    41(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    3R(18193234-18198464)
    2L(2812437-2814429)
    worm
    (Caenorhabditis elegans)
    Secernentea pyk-26
    pyk-16
    Protein PYK-1, isoform a
    55(a)
    34(a)
    many ↔ many
    many ↔ many
    IV(10909915-10913079)
    I(9168424-9177497)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PYK2(YOR347C)4
    PYK21
    Pyruvate kinase that appears to be modulated by phosphorylation; more4
    Pyk2p1
    52.96(n)1
    50.7(a)1
      15(986462-984942)4
    8545291, 4  NP_014992.31  NP_014992.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G040501 pyruvate kinase 52.4(n)
    48.69(a)
      819560  NM_111276.1  NP_187055.1 
    rice
    (Oryza sativa)
    Liliopsida Os.79082 Rice mRNA for pyruvate kinase, partial sequence 73.04(n)    AK068805.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PKLR gene
    PKM2  
    2 SIMAP similar genes for PKLR using alignment to 2 protein entries:     KPYR_HUMAN (see all proteins):
    PKM2    PKM

    PKLR for paralogs           About GeneDecksing



    (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

    10/506 SNPs in PKLR are shown (see all 506)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0114424
    Pyruvate kinase deficiency of red cells (PKRD)4--see VAR_0114422 S F mis40--------
    VAR_0040304
    Pyruvate kinase deficiency of red cells (PKRD)4--see VAR_0040302 V D mis40--------
    VAR_0114544
    Pyruvate kinase deficiency of red cells (PKRD)4--see VAR_0114542 G D mis40--------
    VAR_0040434
    Pyruvate kinase deficiency of red cells (PKRD)4--see VAR_0040432 R Q mis40--------
    VAR_0040384
    Pyruvate kinase deficiency of red cells (PKRD)4--see VAR_0040382 I T mis40--------
    VAR_0040354
    Pyruvate kinase deficiency of red cells (PKRD)4--see VAR_0040352 G R mis40--------
    VAR_0584704
    Pyruvate kinase deficiency of red cells (PKRD)4--see VAR_0584702 A T mis40--------
    VAR_0040424
    Pyruvate kinase deficiency of red cells (PKRD)4--see VAR_0040422 R P mis40--------
    VAR_0040364
    Pyruvate kinase deficiency of red cells (PKRD)4--see VAR_0040362 D N mis40--------
    VAR_0584734
    Pyruvate kinase deficiency of red cells (PKRD)4--see VAR_0584732 L V mis40--------

    HapMap Linkage Disequilibrium report for PKLR (155259084 - 155271225 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for PKLR:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv436027CNV Insertion17901297
    nsv3032CNV Insertion18451855
    dgv3n68CNV Loss17160897
    nsv872466CNV Loss21882294
    nsv831636CNV Loss17160897
    nsv872457CNV Loss21882294
    esv33869CNV Loss17666407
    esv23319CNV Gain19812545
    dgv132e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): PKLR

    Locus Specific Mutation Databases (LSDB): PKLR
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PKLR
    DNA2.0 Custom Variant and Variant Library Synthesis for PKLR

    (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: 609712   
    OMIM disorders: 266200  102900  
    UniProtKB/Swiss-Prot: KPYR_HUMAN, P30613
  • Pyruvate kinase hyperactivity (PKHYP) [MIM:102900]: Autosomal dominant phenotype characterized by
    increase of red blood cell ATP. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]: A frequent cause of hereditary
    non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable
    degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe
    transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully
    compensated hemolysis without apparent anemia. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/25 diseases for PKLR (see all 25):    About MalaCards
    pyruvate kinase deficiency    adenosine triphosphate, elevated, of erythrocytes    hemolytic anemia    gaucher's disease
    anhidrosis    neonatal jaundice    maturity-onset diabetes of the young    insulinoma
    anemia    jaundice    endocarditis    sickle cell disease
    thalassemia    hyperglycemia    malaria    pneumonia
    type 1 diabetes    hypoxia    obesity    tuberculosis

    4 diseases from the University of Copenhagen DISEASES database for PKLR:
    Anemia     Glucosephosphate dehydrogenase deficiency     Diabetes mellitus     Myopathy

    PKLR for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for PKLR gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyruvate kinase deficiency 96.7 14 19755962 (1), 9827908 (1), 11668614 (1), 17222205 (1) (see all 14)
    hereditary nonspherocytic hemolytic anemia 93.8 2 9482576 (1), 8664896 (1)
    anemia hemolytic 76.9 13 17550844 (2), 15870173 (2), 10679942 (1), 19755962 (1) (see all 9)
    gaucher disease 67.4 2 9608355 (1), 9677056 (1)
    anemia hemolytic congenital 64.4 1 9160692 (1)
    insulinoma 43.8 1 1720308 (1)
    anemia 23.5 4 15642665 (2), 11054094 (1), 15870173 (1)
    hemolysis 17.5 2 17550844 (1)

    Genatlas disease: PKLR
    hemolytic anemia

    Genetic Association Database (GAD): PKLR
    Human Genome Epidemiology (HuGE) Navigator: PKLR (7 documents)

    Export disorders for PKLR 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 PKLR gene, integrated from 9 sources (see all 182):
    (articles sorted by number of sources associating them with PKLR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. (PubMed id 1536957)1, 2, 4 Kanno H.... Miwa S. (1992)
    2. Human liver type pyruvate kinase: cDNA cloning and chromosomal assignment. (PubMed id 3566732)1, 2, 3 Tani K.... Miwa S. (1987)
    3. Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK. (PubMed id 19085939)1, 2, 9 van Wijk R.... van Solinge W.W. (2009)
    4. Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK. (PubMed id 8476433)1, 2, 9 Kanno H.... Miwa S. (1993)
    5. Population genetics of four PKLR intragenic polymorphisms in Portugal and Sao Tome e Principe (Gulf of Guinea). (PubMed id 11459427)1, 4, 9 Manco L....Amorim A. (2001)
    6. Liver pyruvate kinase polymorphisms are associated with type 2 diabetes in northern European Caucasians. (PubMed id 12196482)1, 4, 9 Wang H....Elbein S.C. (2002)
    7. Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. (PubMed id 9827908)1, 2, 9 Zarza R.... Vives Corrons J.L. (1998)
    8. Lack of association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity and related metabolic phenotypes in a Danish large-scale study: case-control studies and analyses of quantitative traits. (PubMed id 19111066)1, 4, 9 Andreasen C.H....Hansen T. (2008)
    9. Pyruvate kinase deficient hemolytic anemia in the Northern Irish population. (PubMed id 17574881)1, 7, 9 Percy M.J....McMullin M.F. (2007)
    10. Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy. (PubMed id 9482576)1, 2, 9 Pastore L.... Salvatore F. (1998)

    (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: 5313 HGNC: 9020 AceView: PKLR Ensembl:ENSG00000143627 euGenes: HUgn5313
    ECgene: PKLR Kegg: 5313 H-InvDB: PKLR

    (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 PKLR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKLR
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pklr/
    Wikipedia http://en.wikipedia.org/wiki/Pyruvate_kinase
    PKLR Mutation Databasehttp://www.pklrmutationdatabase.com/

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

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



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    About This Section

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