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PFKM Gene

protein-coding   GIFtS: 73
GCID: GC12P048501

Phosphofructokinase, Muscle

(Previous names: phosphofructokinase, polypeptide X)
(Previous symbol: PFKX)
  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)
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Aliases
Phosphofructokinase, Muscle1 2     6-Phosphofructokinase, Muscle Type2
PFKX1 2 3     PFK-12
Phosphofructokinase, Polypeptide X1 2     PFK12
Phosphofructo-1-Kinase Isozyme A2 3     PFKA2
Phosphofructokinase 12 3     phosphofructokinase-M2
PFK-A2 3     phosphohexokinase2
EC 2.7.1.113 8     Phosphofructokinase-M3
GSD72 5     Phosphohexokinase3
6-phosphofructo-1-kinase2     EC 2.7.18

External Ids:    HGNC: 88771   Entrez Gene: 52132   Ensembl: ENSG000001525567   OMIM: 6106815   UniProtKB: P082373   

Export aliases for PFKM gene to outside databases

Previous GC identifers: GC12P048525 GC12P048412 GC12P048229 GC12P046802 GC12P046788 GC12P046785 GC12P045531


(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 PFKM Gene:
Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as
subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of
fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This
gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease
type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.(provided by
RefSeq, Nov 2009)

GeneCards Summary for PFKM Gene:
PFKM (phosphofructokinase, muscle) is a protein-coding gene. Diseases associated with PFKM include glycogen storage disease vii, and phosphoglycerate kinase deficiency. GO annotations related to this gene include kinase binding and identical protein binding. An important paralog of this gene is PFKP.

UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237
Function: Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to
generate fructose-1,6-bisphosphate (FBP) and ADP

Gene Wiki entry for PFKM 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:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PFKM gene promoter:
         HOXA9B   HOXA9   AP-1   ATF-2   FOXD1   CUTL1   STAT5A   c-Jun   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PFKM promoter sequence
   Search Chromatin IP Primers for PFKM

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


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

Entrez Gene cytogenetic band: 12q13.3   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q13.11

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P048501:  view genomic region     (about GC identifiers)

Start:
48,498,922 bp from pter      End:
48,540,187 bp from pter
Size:
41,266 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237 (See protein sequence)
Recommended Name: 6-phosphofructokinase, muscle type  
Size: 780 amino acids; 85183 Da
Cofactor: Magnesium
Subunit: Tetramer. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3
Miscellaneous: In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP
(platelet) isoenzymes
Secondary accessions: J3KNX3 Q16814 Q16815 Q6ZTT1
Alternative splicing: 3 isoforms:  P08237-1   P08237-2   P08237-3   (No experimental confirmation available. Ref.4 (BAC86498) sequence is in conflict in position: 2:H->L)

Explore the universe of human proteins at neXtProt for PFKM: NX_P08237

Explore proteomics data for PFKM at MOPED

Post-translational modifications: 

  • GlcNAcylation decreases enzyme activity (By similarity)1
  • Ubiquitination2 at Lys738
  • Glycosylation2 at Ser530
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PFKM (P08237) (see all 44)
     HAHLEHI  RVTVLGH  VLTSGGD  TLGIGKA 


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

    REFSEQ proteins (4 alternative transcripts): 
    NP_000280.1  NP_001160158.1  NP_001160159.1  NP_001160160.1  

    ENSEMBL proteins: 
     ENSP00000450369   ENSP00000449835   ENSP00000446945   ENSP00000446829   ENSP00000447997  
     ENSP00000345771   ENSP00000447992   ENSP00000450173   ENSP00000449622   ENSP00000448940  
     ENSP00000448018   ENSP00000352842   ENSP00000448318   ENSP00000447774   ENSP00000448315  
     ENSP00000448253   ENSP00000449269   ENSP00000448177   ENSP00000446805   ENSP00000449426  
     ENSP00000446519   ENSP00000446740   ENSP00000450091   ENSP00000378656   ENSP00000309438  
    Reactome Protein details: P08237

    PFKM Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PFKM
    OriGene Protein Over-expression Lysate for PFKM
    OriGene MassSpec for PFKM
    OriGene Custom Protein Services for PFKM
    GenScript Custom Purified and Recombinant Proteins Services for PFKM
    Novus Biologicals PFKM Proteins
    Novus Biologicals PFKM Lysates
    Sino Biological Recombinant Protein for PFKM
    Sino Biological Cell Lysate for PFKM
    ProSpec Recombinant Protein for PFKM
    Cloud-Clone Corp. Proteins for PFKM

    PFKM Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PFKM
    R&D Systems Antibodies for PFKM (Muscle Phosphofructokinase/PFKM)
    OriGene Antibodies for PFKM
    OriGene Custom Antibody Services for PFKM
    Novus Biologicals PFKM Antibodies
    Abcam antibodies for PFKM
    Cloud-Clone Corp. Antibodies for PFKM
    ThermoFisher Antibody for PFKM
    LSBio Antibodies in human, mouse, rat for PFKM

    PFKM Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PFKM
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PFKM
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PFKM
    Cloud-Clone Corp. CLIAs for PFKM


    (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:
     IPR009161 6-phosphofructokinase_euk
     IPR022953 Phosphofructokinase
     IPR015912 Phosphofructokinase_CS
     IPR000023 Phosphofructokinase_dom

    Graphical View of Domain Structure for InterPro Entry P08237

    ProtoNet protein and cluster: P08237

    1 Blocks protein domain: IPB000023 Phosphofructokinase

    UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237
    Similarity: Belongs to the phosphofructokinase family. Two domains subfamily


    PFKM 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: K6PF_HUMAN, P08237
    Function: Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to
    generate fructose-1,6-bisphosphate (FBP) and ADP
    Catalytic activity: ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate
    Enzyme regulation: Allosteric enzyme activated by ADP, AMP, or fructose bisphosphate and inhibited by ATP or
    citrate

         Genatlas biochemistry entry for PFKM:
    6-phosphofructo-1-kinase,expressed in muscle,previously assigned to chr 1,fructose metabolism,energy pathway

         Enzyme Numbers (IUBMB): EC 2.7.1.111 2 EC 2.7.12

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038726-phosphofructokinase activity ISS--
    GO:0005515protein binding IPI12649290
    GO:0005524ATP binding IDA8780720
    GO:0008022protein C-terminus binding IPI12649290
    GO:0008443phosphofructokinase activity ----
         
    PFKM for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for PFKM:
     Actin fiber cells  Decreased 12E8 tau but not tot  Increased apoptosis  Upregulation of Wnt/beta-caten 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pfkm):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle 

    PFKM for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pfkmtm1Fbos for PFKM

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PFKM
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PFKM

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target PFKM:
    hsa-mir-92a-3p (MIRT049227), hsa-mir-320a (MIRT044562), hsa-let-7b-5p (MIRT052269)

    Block miRNA regulation of human, mouse, rat PFKM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PFKM (see all 24):
    hsa-miR-320a hsa-miR-128 hsa-miR-3133 hsa-miR-3916 hsa-miR-3125 hsa-miR-320e hsa-miR-591 hsa-miR-542-3p
    SwitchGear 3'UTR luciferase reporter plasmidPFKM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PFKM
    Predesigned siRNA for gene silencing in human, mouse, rat PFKM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PFKM

    Clone
    Products:
         
    OriGene clones in human, mouse for PFKM (see all 22)
    OriGene ORF clones in mouse, rat for PFKM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): PFKM (NM_001166686)
    Sino Biological Human cDNA Clone for PFKM
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFKM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFKM

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PFKM
    Browse ESI BIO Cell Lines and PureStem Progenitors for PFKM 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKM


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    plasma membrane5
    chloroplast2
    cytoskeleton2
    extracellular2
    mitochondrion2
    nucleus2
    peroxisome2
    endoplasmic reticulum1
    lysosome1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:00059456-phosphofructokinase complex IDA6444532
    GO:0016324apical plasma membrane IDA12649290

    PFKM for ontologies           About GeneDecksing


    (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 PFKM About   (see all 13)  
    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
    glycolysis0.00
    Glycolysis / Gluconeogenesis0.46
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    4Akt Signaling
    Akt Signaling0.60
    5MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PFKM
        AMPK Enzyme Complex Pathway
    Akt Signaling

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

    5 BioSystems Pathways for PFKM
        Insulin Signaling
    Glycolysis and Gluconeogenesis
    glycolysis
    Validated targets of C-MYC transcriptional activation
    conversion of glucose to acetyl CoA and entry into the TCA cycle


    1 Reactome Pathway for PFKM
        Glycolysis


    Selected Kegg Pathways  (Kegg details for PFKM) (see all 7):
        Glycolysis / Gluconeogenesis
    Pentose phosphate pathway
    Fructose and mannose metabolism
    Galactose metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237
    Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from
    D-glucose: step 3/4


    PFKM for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PFKM
    Interactions:

        GeneGlobe Interaction Network for PFKM

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

    Selected Interacting proteins for PFKM (P082371, 2, 3 ENSP000003528424) via UniProtKB, MINT, STRING, and/or I2D (see all 863)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583, ENSP000002722984I2D: score=1 STRING: ENSP00000272298
    CALM3P621583, ENSP000002912954I2D: score=1 STRING: ENSP00000291295
    PFKLP178581, 3, ENSP000002698484EBI-514788,EBI-487243 I2D: score=4 STRING: ENSP00000269848
    SUMO1P631652, 3, ENSP000003760764MINT-7947479 I2D: score=1 STRING: ENSP00000376076
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006002fructose 6-phosphate metabolic process IMP6444532
    GO:0006006glucose metabolic process TAS--
    GO:0006096glycolytic process TAS--
    GO:0032024positive regulation of insulin secretion IEA--

    PFKM for ontologies           About GeneDecksing



    (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 PFKM (K6PF)

    Selected HMDB Compounds for PFKM (see all 16)    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--
    Beta-D-Fructose 6-phosphatebeta-D-Fructose 6-phosphate (see all 2)----
    CDPCDP (see all 3)63-38-7--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    D-Tagatose 1,6-bisphosphate1,6-di-O-phosphono-D-tagatofuranose ----
    D-Tagatose 6-phosphate6-O-phosphono-D-tagatofuranose (see all 2)----
    Fructose 1,6-bisphosphateD-Fructose 1,6-biphosphate (see all 16)488-69-7--
    Fructose 6-phosphateD-Fructose 6-phosphate (see all 13)643-13-0--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--

    Selected Novoseek inferred chemical compound relationships for PFKM gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 59.1 6 14718702 (1), 10438462 (1), 7603532 (1), 1826293 (1) (see all 6)
    phosphocreatine 36.4 1 9829278 (1)
    carnitine 22.6 2 1826293 (1), 12149506 (1)
    atp 20.9 1 10438462 (1)
    lactate 20.2 3 8482676 (1), 12149506 (1)
    pyruvate 19.7 1 10438462 (1)
    glucose 19.4 10 14718702 (1), 7603532 (1), 12217956 (1), 8764833 (1) (see all 9)
    creatinine 10.2 1 10438462 (1)
    alanine 4.69 1 19218242 (1)
    lipid 0 1 7603532 (1)



    PFKM for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PFKM gene (4 alternative transcripts): 
    NM_000289.5  NM_001166686.1  NM_001166687.1  NM_001166688.1  

    Unigene Cluster for PFKM:

    Phosphofructokinase, muscle
    Hs.75160  [show with all ESTs]
    Unigene Representative Sequence: AK126020
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 32):
    ENST00000550345 ENST00000549003 ENST00000550924 ENST00000549941 ENST00000550257
    ENST00000340802(uc001rrb.2) ENST00000547581(uc001rra.2) ENST00000546755
    ENST00000549366 ENST00000552792 ENST00000548288 ENST00000359794 ENST00000547066
    ENST00000546964(uc001rrd.3) ENST00000548720 ENST00000552989 ENST00000551548
    ENST00000551485
    miRNA
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    Block miRNA regulation of human, mouse, rat PFKM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PFKM (see all 24):
    hsa-miR-320a hsa-miR-128 hsa-miR-3133 hsa-miR-3916 hsa-miR-3125 hsa-miR-320e hsa-miR-591 hsa-miR-542-3p
    SwitchGear 3'UTR luciferase reporter plasmidPFKM 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PFKM
    Predesigned siRNA for gene silencing in human, mouse, rat PFKM
    Clone
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    OriGene clones in human, mouse for PFKM (see all 22)
    OriGene ORF clones in mouse, rat for PFKM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): PFKM (NM_001166686)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFKM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFKM
    Primer
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    OriGene qPCR primer pairs and template standards for PFKM
    OriGene qSTAR qPCR primer pairs in human, mouse for PFKM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PFKM
      QuantiTect SYBR Green Assays in human, mouse, rat PFKM
      QuantiFast Probe-based Assays in human, mouse, rat PFKM

    Additional mRNA sequence: 

    AK126020.1 AK126229.1 AK303681.1 AK308185.1 AK312284.1 BC000534.2 BC007798.2 BC012799.2 
    BC013298.2 BC021203.2 CR541698.1 D21861.1 J05533.1 M26066.1 U24183.1 Y00698.1 

    Selected DOTS entries (see all 35):

    DT.95200400  DT.100821887  DT.453195  DT.95227048  DT.100821891  DT.95227047  DT.100821889  DT.451936 
    DT.102830750  DT.101968062  DT.100821888  DT.121130909  DT.95239472  DT.100821896  DT.101968583  DT.121130726 
    DT.121130748  DT.91766939  DT.91766943  DT.95227041  DT.95227049  DT.100774897  DT.100821892  DT.102830751 

    Selected AceView cDNA sequences (see all 459):

    BM707870 BQ073492 BQ214726 AI370819 AI193636 BE887098 BE794437 BQ073813 
    BM710783 AV707835 BU732958 BQ425020 Y00698 BM771640 AA152157 AW411025 
    BC021203 AL534236 BQ640633 AU123936 AK126020 AL045056 BQ639191 BU178090 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PFKM (see all 17)    About this scheme

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

    ExUns: 14b · 14c · 14d ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^
    SP1:                                                                          -                       -                                                         
    SP2:                                                                          -                       -                                                         
    SP3:                                                                    -     -                       -                                                         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 31 ^ 32
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for PFKM

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


    PFKM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
     
     Testis (Reproductive System)
     
     Adrenal Gland (Endocrine System)
     
     Skeletal Muscle (Muscoskeletal System)
    PFKM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PFKM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75160
        Custom PCR Arrays for PFKM
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PFKM
    OriGene qSTAR qPCR primer pairs in human, mouse for PFKM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PFKM
    QuantiTect SYBR Green Assays in human, mouse, rat PFKM
    QuantiFast Probe-based Assays in human, mouse, rat PFKM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKM

    (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

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

    Orthologs for PFKM gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pfkm1 , 5 phosphofructokinase, muscle1, 5 90.17(n)1
    97.82(a)1
      15 (54.09 cM)5
    186421  NM_021514.41  NP_067489.31 
     980925895 
    chicken
    (Gallus gallus)
    Aves PFKM1 phosphofructokinase, muscle 75.89(n)
    83.97(a)
      374064  NM_204223.1  NP_989554.2 
    lizard
    (Anolis carolinensis)
    Reptilia PFKM6
    phosphofructokinase, muscle
    85(a)
    1 ↔ 1
    GL343536.1(124076-178939)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC045100.12   -- 75.32(n)    BC045100.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pfkma1 phosphofructokinase, muscle a 71.74(n)
    79.79(a)
      447836  NM_001004575.1  NP_001004575.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pfk1 , 3 glycolysis 6-phosphofructokinase3
    Phosphofructokinase1
    54(a)3
    60.91(n)1
    60.86(a)1
      360601  NM_165747.41  NP_724891.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H10A.1a3
    Y71H10A.11
    phosphofructokinase3
    Y71H10A.11
    56(a)
    (best of 3)3
    57.07(n)1
    56.76(a)1
      X(2976190-2980515)3
    1805831  NM_171643.31  NP_741738.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PFK26
    PFK16
    Beta subunit of heterooctameric phosphofructokinas...
    Alpha subunit of heterooctameric phosphofructokina...
    34(a)
    34(a)
    many ↔ many
    many ↔ many
    XIII(671887-674766) YMR205C
    VII(970771-973734) YGR240C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for PFKM gene
    PFKP2  PFKL2  
    13 SIMAP similar genes for PFKM using alignment to 23 protein entries:     K6PF_HUMAN (see all proteins):
    DKFZp779O048    PKP2    PFKP    FLT3LG    PFK-P    DKFZp686L2097
    GART    DKFZp686G1648    PS1TP6    PFKL    DKFZp666K083    PHACTR1
    PPARD

    PFKM 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), 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)
    About This Section

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    Selected SNPs for PFKM (see all 932)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22285001,2,,4
    C,F,O,HGlycogen storage disease 7 (GSD7)4 --48359745(+) ACTCCG/AAGCTG 8 /Q /R mis1 ese338Minor allele frequency- A:0.18MN EA NA NS CSA WA EU 11438
    rs412919711,2,,4
    C,FGlycogen storage disease 7 (GSD7)4 --48371939(+) TTACCG/ATAATG 8 /H /R mis15Minor allele frequency- A:0.01NA EU 5997
    VAR_0060674
    Glycogen storage disease 7 (GSD7)4--see VAR_0060672 D A mis40--------
    VAR_0060634
    Glycogen storage disease 7 (GSD7)4--see VAR_0060632 R L mis40--------
    VAR_0060664
    Glycogen storage disease 7 (GSD7)4--see VAR_0060662 G D mis40--------
    VAR_0060684
    Glycogen storage disease 7 (GSD7)4--see VAR_0060682 W C mis40--------
    VAR_0060644
    Glycogen storage disease 7 (GSD7)4--see VAR_0060642 R P mis40--------
    rs1219181931,2
    Cpathogenic148357209(+) GGTTCA/C/G/
            
    AGTTG
    12 P R L mis10--------
    rs1808924061,2
    --45529160(+) ACCCCA/GCATTT 1 -- us2k10--------
    rs1455948571,2
    --48330661(+) TGTCTA/GGGGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PFKM (48498922 - 48540187 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PFKM:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508673CNV Loss20534489
    nsv8971CNV Gain+Loss18304495
    dgv509e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): PFKM
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PFKM
    DNA2.0 Custom Variant and Variant Library Synthesis for PFKM

    (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: 610681   
    OMIM disorders: 232800  
    UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237
  • Glycogen storage disease 7 (GSD7) [MIM:232800]: A metabolic disorder characterized by exercise
    intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis.
    Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after
    vigorous exercise. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for PFKM (see all 24):    
    About MalaCards
    glycogen storage disease vii    phosphoglycerate kinase deficiency    hyperuricemia    glycogen storage disease
    gastric ulcer    lactic acidosis    hemolytic anemia    down syndrome
    myopathy    insulin resistance    mental retardation    pneumonia
    diabetes mellitus    hypoxia    schizophrenia    tuberculosis
    arthritis    melanoma    pancreatitis    myeloma

    3 diseases from the University of Copenhagen DISEASES database for PFKM:
    Glycogen storage disease     Myopathy     Diabetes mellitus

    PFKM for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for PFKM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphofructokinase deficiency 98.8 60 1824792 (4), 14718702 (3), 17608317 (3), 8659544 (2) (see all 29)
    mcardles disease 84.9 8 14718702 (1), 10809925 (1), 9541495 (1), 2018547 (1) (see all 5)
    myopathy 67.5 5 8659544 (1), 7479776 (1), 7825568 (1), 1394261 (1) (see all 5)
    hemolysis 54.9 4 8785459 (2), 7603526 (1), 7550225 (1)
    hyperuricemia 53 1 1838230 (1)
    mitochondrial diseases 34.9 1 7603532 (1)
    down syndrome 21.4 2 15793789 (1)
    acidosis 17.2 1 9541495 (1)
    niddm 0 4 8661033 (1)

    Genetic Association Database (GAD): PFKM
    Human Genome Epidemiology (HuGE) Navigator: PFKM (4 documents)

    Export disorders for PFKM 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

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    PubMed articles for PFKM gene, integrated from 10 sources (see all 128) (see top 10):
    (articles sorted by number of sources associating them with PFKM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. (PubMed id 7513946)1, 2, 9 Tsujino S.... DiMauro S. (Am. J. Hum. Genet. 1994)
    2. Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. (PubMed id 7479776)1, 4, 9 Vasconcelos O.... Goldfarb L.G. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    3. Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. (PubMed id 7825568)1, 2, 9 Raben N....Heinisch J.J. (Am. J. Hum. Genet. 1995)
    4. Mutations in muscle phosphofructokinase gene. (PubMed id 7550225)1, 2, 9 Raben N. and Sherman J.B. (Hum. Mutat. 1995)
    5. Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. (PubMed id 1833270)1, 2, 9 Yamasaki T.... Tarui S. (Gene 1991)
    6. Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase. (PubMed id 2140567)1, 2, 9 Sharma P.M.... McLachlan A. (J. Biol. Chem. 1990)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    9. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    10. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. ( international journal of clinical chemistry 2009)
    11. 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)
    12. Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII. (PubMed id 8889589)1, 2 Hamaguchi T.... Matsuzawa Y. (Hum. Mutat. 1996)
    13. Cloning and expression of a human muscle phosphofructokinase cDNA. (PubMed id 2526045)1, 2 Sharma P.M.... McLachlan A. (Gene 1989)
    14. Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon. (PubMed id 2526044)1, 2 Valdez B.C.... Chang S.H. (Gene 1989)
    15. Cloning of human muscle phosphofructokinase cDNA. (PubMed id 2822475)1, 2 Nakajima H.... Tarui S. (FEBS Lett. 1987)
    16. Interaction of neuronal nitric-oxide synthase and phosphofructokinase-M. (PubMed id 10187848)1, 9 Firestein B.L. and Bredt D.S. (J. Biol. Chem. 1999)
    17. Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. (PubMed id 8661033)1, 9 Howard T.D....Bowden D.W. (Genomics 1996)
    18. Novel testis- and embryo-specific isoforms of the phosphofructokinase-1 muscle type gene. (PubMed id 15020257)1, 9 Yamada S....Kuehn M.R. (Biochem. Biophys. Res. Commun. 2004)
    19. Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site. (PubMed id 2140573)1, 9 Nakajima H.... Tarui S. (J. Biol. Chem. 1990)
    20. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. (PubMed id 9443500)1, 9 Bruno C....DiMauro S. (Neurology 1998)
    21. A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). (PubMed id 8444874)1, 9 Raben N....Plotz P. (J. Biol. Chem. 1993)
    22. The UbL protein UBTD1 stably interacts with the UBE2D family of E2 ubiquitin conjugating enzymes. (PubMed id 24211586)1 Uhler J.P....Gustafsson C.M. (Biochem. Biophys. Res. Commun. 2014)
    23. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    24. Protein interactions of the transcription factor Hoxa1. (PubMed id 23088713)1 Lambert B....Rezsohazy R. (BMC Dev. Biol. 2012)
    25. Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). (PubMed id 22133655)1 Musumeci O....Toscano A. (Neuromuscul. Disord. 2012)
    26. Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease. (PubMed id 22995305)1 BrA1ser A....SchAPneberg T. (Biochem. Biophys. Res. Commun. 2012)
    27. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    28. Functional linkage of adenine nucleotide binding sites in mammalian muscle 6-phosphofructokinase. (PubMed id 22474333)1 BrA1ser A....SchAPneberg T. (J. Biol. Chem. 2012)
    29. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)
    30. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    31. Posttranslational modification of 6-phosphofructo-1-kinase as an important feature of cancer metabolism. (PubMed id 21573193)1 A merc A....LegiA!a M. (PLoS ONE 2011)
    32. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    33. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    34. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    35. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    36. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    37. Differential expression of phosphofructokinase-1 isoforms correlates with the glycolytic efficiency of breast cancer cells. (PubMed id 20483646)1 Zancan P....Da Silva D. (Mol. Genet. Metab. 2010)
    38. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    39. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    40. Evolution of allosteric citrate binding sites on 6-phosphofructo-1-kinase. (PubMed id 21124851)1 Usenik A. and LegiA!a M. (PLoS ONE 2010)
    41. Proliferating cell nuclear antigen in the cytoplasm interacts with components of glycolysis and cancer. (PubMed id 20849852)1 Naryzhny S.N. and Lee H. (FEBS Lett. 2010)
    42. Proteomic analysis reveals Hrs ubiquitin-interacting motif-mediated ubiquitin signaling in multiple cellular processes. (PubMed id 19019082)1 Pridgeon J.W....Chin L.S. (FEBS J. 2009)
    43. Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia. (PubMed id 19165527)1 Martins-de-Souza D....Turck C.W. (Eur Arch Psychiatry Clin Neurosci 2009)
    44. Direct binding of CoREST1 to SUMO-2/3 contributes to gene-specific repression by the LSD1/CoREST1/HDAC complex. (PubMed id 19394292)1 Ouyang J....Gill G. (Mol. Cell 2009)
    45. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1 Meierhofer D.... Kaiser P. (J. Proteome Res. 2008)
    46. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    47. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. (PubMed id 18854154)1 KAPnig R....Chanda S.K. (Cell 2008)
    48. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PubMed id 18624398)1 Wang J....He F. (J. Proteome Res. 2008)
    49. Broad spectrum identification of SUMO substrates in melanoma cells. (PubMed id 17549794)1 Ganesan A.K....White M.A. (Proteomics 2007)
    50. Chimeric phosphofructokinases involving exchange of the N- and C-terminal halves of mammalian isozymes: implications for ligand binding sites. (PubMed id 17544406)1 MartA-nez-Costa O.H....AragA^n J.J. (FEBS Lett. 2007)
    51. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    52. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    53. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    54. Proteomic identification of brain proteins that interact with dynein light chain LC8. (PubMed id 14760703)1 Navarro-LAcrida I....RodrA-guez-Crespo I. (Proteomics 2004)
    55. The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humans. (PubMed id 12649290)1 Su Y....Karet F.E. (J. Biol. Chem. 2003)
    56. Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2. (PubMed id 12432079)1 Lange S.... Ehler E. (J. Cell Sci. 2002)
    57. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    58. Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. (PubMed id 9389749)1 Ristow M....Pfeiffer A. (J. Clin. Invest. 1997)
    59. Association of phosphofructokinase-M with caveolin-3 in differentiated skeletal myotubes. Dynamic regulation by extracellular glucose and intracellular metabolites. (PubMed id 9252390)1 Scherer P.E. and Lisanti M.P. (J. Biol. Chem. 1997)
    60. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)
    61. Isozyme analysis of human polymorphonuclear leukocyte phosphofructokinase from insulin resistant individuals. (PubMed id 8780720)1 Durante P....Ryder E. (Biochem. Biophys. Res. Commun. 1996)
    62. Muscle phosphofructokinase deficiency in man: expression of the defect in blood cells and cultured fibroblasts. (PubMed id 6459054)1 Kahn A....Dreyfus J.C. (Ann. Hum. Genet. 1981)
    63. The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. (PubMed id 6444532)1 Vora S....Piomelli S. (Blood 1980)
    64. Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system. (PubMed id 6444721)1 Vora S....Piomelli S. (Proc. Natl. Acad. Sci. U.S.A. 1980)
    65. Phosphofructokinase (PFK) isozymes in man. I. Studies of adult human tissues. (PubMed id 156693)1 Kahn A....Dreyfus J.C. (Hum. Genet. 1979)
    66. Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase. (PubMed id 125160)1 Kahn A....Bovin P. ( international journal of clinical chemistry 1975)
    67. Characterization of expression of phosphofructokinase isoforms in isolated rat pancreatic islets and purified beta cells and cloning and expression of the rat phosphofructokinase-A isoform. (PubMed id 8764833)9 Ma Z....Turk J. (Biochim. Biophys. Acta 1996)
    68. Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases. (PubMed id 14633633)9 Sotgia F....Lisanti M.P. (Am. J. Pathol. 2003)
    69. Mapping of the Na+, K(+)-ATPase subunit alpha 2 (ATP1A2) and muscle phosphofructokinase (PFKM) genes in pig by somatic cell hybrid analysis. (PubMed id 10050286)9 Fontanesi L....Russo V. (Anim. Genet. 1999)
    70. Sequence analysis of mouse muscle-type phosphofructokinase gene introns 10 and 11 with special reference to the exon skipping. (PubMed id 17564308)9 Yamasaki T....Noguchi T. (Res. Commun. Mol. Pathol. Pharmacol. 2004)
    71. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. (PubMed id 1824792)9 Haller R.G. and Lewis S.F. (N. Engl. J. Med. 1991)
    72. Tissue specificity in expression and alternative RNA splicing of human phosphofructokinase-M and -L genes. (PubMed id 2148476)9 Nakajima H....Tarui S. (Biochem. Biophys. Res. Commun. 1990)
    73. Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. (PubMed id 17608317)9 Al-Hassnan Z.N....Al-Dhalaan H. (J. Child Neurol. 2007)
    74. Two types of phosphofructokinase-1 differentially regulate the glycolytic pathway in insulin-stimulated chicken skeletal muscle. (PubMed id 16413217)9 Seki Y....Akiba Y. (amp 2006)
    75. Nuclear localization and chromatin targets of p21-activated kinase 1. (PubMed id 15749698)9 Singh R.R....Kumar R. (J. Biol. Chem. 2005)
    76. No spontaneous second wind in muscle phosphofructokinase deficiency. (PubMed id 14718702)9 Haller R.G. and Vissing J. (Neurology 2004)
    77. Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. (PubMed id 8659544)9 Nichols R.C....Raben N. (Am. J. Hum. Genet. 1996)
    78. A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal RNA splicing. (PubMed id 7518679)9 Hamaguchi T....Matsuzawa Y. (Biochem. Biophys. Res. Commun. 1994)
    79. KpnI RFLP at the human muscle-type phosphofructokinase (PFKM) gene locus. (PubMed id 1674138)9 Dionne F.T....Bouchard C. (Nucleic Acids Res. 1991)
    80. Genomic organization, 5'flanking region and tissue-specific expression of mouse phosphofructokinase C gene. (PubMed id 11137296)9 Gunasekera D. and Kemp R.G. (Gene 2000)
    81. Improvement of hemolysis in muscle phosphofructokinase deficiency by restriction of exercise. (PubMed id 8785459)9 Toyoda H....Kono N. (Intern. Med. 1996)
    82. Paradoxically enhanced glucose production during exercise in humans with blocked glycolysis caused by muscle phosphofructokinase deficiency. (PubMed id 8797477)9 Vissing J....Haller R.G. (Neurology 1996)
    83. Phosphofructokinase deficiency: recent advances in molecular biology. (PubMed id 7603524)9 Nakajima H....Tarui S. (amp 1995)
    84. A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis. (PubMed id 7603526)9 Nakagawa C....Tarui S. (amp 1995)
    85. Syntenic assignment of human chromosome 1 homologous loci in the bovine. (PubMed id 8001974)9 Threadgill D.S....Womack J.E. (Genomics 1994)
    86. Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis. (PubMed id 1394261)9 Pastoris O....Bianchi E. (Childs Nerv Syst 1992)
    87. Abnormal oxidative metabolism and O2 transport in muscle phosphofructokinase deficiency. (PubMed id 1826293)9 Lewis S.F....Haller R.G. (J. Appl. Physiol. 1991)
    88. Regulation of muscle phosphofructokinase by physiological concentrations of bisphosphorylated hexoses: effect of alkalinization. (PubMed id 2145837)9 AndrAcs V....CussA^ R. (Biochem. Biophys. Res. Commun. 1990)
    89. Expression of phosphofructokinase in Neisseria meningitidis. (PubMed id 19797358)9 Baart G.J....Martens D.E. (Microbiology (Reading, Engl.) 2010)
    90. Transcriptional adaptations of lipid metabolism in tibialis anterior muscle of endurance-trained athletes. (PubMed id 14565968)9 Schmitt B....Hoppeler H. (Physiol. Genomics 2003)
    91. Modulation of polyglutamine-induced cell death by genes identified by expression profiling. (PubMed id 12217956)9 Kita H....Kato K. (Hum. Mol. Genet. 2002)
    92. [Glycogenosis type VII (glycogen storage disease type VII, human muscle-phosphofructokinase deficiency, Tarui's disease)]. (PubMed id 11596390)9 Yamasaki T. and Nakajima H. (Ryoikibetsu Shokogun Shirizu 2001)
    93. Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency. (PubMed id 10916683)9 Fujii H. and Miwa S. (amp 2000)
    94. Quantitative characterization of homo- and heteroassociations of muscle phosphofructokinase with aldolase. (PubMed id 11004548)9 RaA^s B....Cascante M. (Biochim. Biophys. Acta 2000)
    95. Muscle phosphofructokinase deficiency (Tarui's disease): report of a case. (PubMed id 10365541)9 Lin H.C....Shen Y.Z. (J. Formos. Med. Assoc. 1999)
    96. Impaired aerobic glycolysis in muscle phosphofructokinase deficiency results in biphasic post-exercise phosphocreatine recovery in 31P magnetic resonance spectroscopy. (PubMed id 9829278)9 Grehl T....Zange J. (Neuromuscul. Disord. 1998)
    97. Muscle phosphofructokinase deficiency. (PubMed id 9305371)9 Massa R....Bernardi G. (Neurology 1997)
    98. Specific characteristics of phosphofructokinase-microtubule interaction. (PubMed id 8635590)9 VAcrtessy B.G....OvA!di J. (FEBS Lett. 1996)
    99. Muscle phosphofructokinase deficiency in two generations. (PubMed id 8880699)9 Vorgerd M....Malin J.P. (J. Neurol. Sci. 1996)
    100. A cDNA encoding canine muscle-type phosphofructokinase. (PubMed id 8654960)9 Smith B.F....Giger U. (Gene 1996)
    101. Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease). (PubMed id 7603525)9 Raben N....Plotz P. (amp 1995)
    102. Cloning and characterization of the human muscle phosphofructokinase gene. (PubMed id 1388024)9 Vaisanen P.A....McLachlan A. (DNA Cell Biol. 1992)
    103. Abnormal high-energy phosphate metabolism in human muscle phosphofructokinase deficiency. (PubMed id 1827789)9 Bertocci L.A....Nunnally R.L. (J. Appl. Physiol. 1991)
    104. A genetic defect in muscle phosphofructokinase deficiency, a typical clinical entity presenting myogenic hyperuricemia. (PubMed id 1838230)9 Nakajima H....Noguchi T. (Adv. Exp. Med. Biol. 1991)
    105. Vanadate promotes photooxidative cleavage and inactivation of muscle phosphofructokinase. (PubMed id 2146958)9 Signorini M. and Bergamini C.M. (Biochem. Biophys. Res. Commun. 1990)
    106. Subunit interactions and composition of the fructose 6-phosphate catalytic site and the fructose 2,6-bisphosphate allosteric site of mammalian phosphofructokinase. (PubMed id 19218242)9 Ferreras C....AragA^n J.J. (J. Biol. Chem. 2009)
    107. Extraction and detection of mRNA from horsehair. (PubMed id 16757896)9 Sato T....Sakai T. (J. Vet. Med. Sci. 2006)
    108. [Rapid prenatal detection of Down syndrome by homologous gene quantitative PCR]. (PubMed id 15793789)9 Wang Q....Sun K. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005)
    109. Free Mg2+ concentration in the calf muscle of glycogen phosphorylase and phosphofructokinase deficiency patients assessed in different metabolic conditions by 31P MRS. (PubMed id 15938748)9 Malucelli E....Iotti S. (Dyn Med 2005)
    110. [Rapid diagnosis of 21 trisomy syndrome by fluorescence quantitative polymerase chain reaction]. (PubMed id 15300645)9 Jing C.X....Lan D. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004)
    111. Molecular cloning of equine muscle-type phosphofructokinase cDNA. (PubMed id 12808221)9 Sato T....Sakai T. (J. Vet. Med. Sci. 2003)
    112. Metabolic adaptation of the fetal and postnatal ovine heart: regulatory role of hypoxia-inducible factors and nuclear respiratory factor-1. (PubMed id 12149506)9 Nau P.N....Scholz T.D. (Pediatr. Res. 2002)
    113. Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. (PubMed id 10809925)9 Aasly J....nstad G. (Eur. J. Neurol. 2000)
    114. Coordinate induction of energy gene expression in tissues of mitochondrial disease patients. (PubMed id 10438462)9 Heddi A....Wallace D.C. (J. Biol. Chem. 1999)
    115. Sympathetic activation in exercise is not dependent on muscle acidosis. Direct evidence from studies in metabolic myopathies. (PubMed id 9541495)9 Vissing J....Haller R.G. (J. Clin. Invest. 1998)
    116. Are metabolic oscillations responsible for normal oscillatory insulin secretion? (PubMed id 9287034)9 Tornheim K. (Diabetes 1997)
    117. Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR). (PubMed id 9050924)9 Lee H.H....Ng H.T. (Hum. Genet. 1997)
    118. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes. (PubMed id 8579052)9 Miwa S. and Fujii H. (Am. J. Hematol. 1996)
    119. Myogenic hyperuricemia: what can we learn from metabolic myopathies? (PubMed id 7603532)9 Mineo I. and Tarui S. (amp 1995)
    120. Red cell enzymopathies as a model of inborn errors of metabolism. (PubMed id 8629088)9 Miwa S....Fujii H. (Southeast Asian J. Trop. Med. Public Health 1995)

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    Entrez Gene: 5213 HGNC: 8877 AceView: PFKM Ensembl:ENSG00000152556 euGenes: HUgn5213
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    PharmGKB entry for PFKM Pharmacogenomics, SNPs, Pathways
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