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

PFKM Gene

protein-coding   GIFtS: 72
GCID: GC12P048501

Phosphofructokinase, Muscle

(Previous names: phosphofructokinase, polypeptide X)
(Previous symbol: PFKX)
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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PFKM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • UniProtKB: GlcNAcylation decreases enzyme activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08237

  • 4/44 DME Specific Peptides for PFKM (P08237) (see all 44)
     HAHLEHI  RVTVLGH  VLTSGGD  TLGIGKA 

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

    PFKM Protein Expression
    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
    Human Recombinant Protein Products for PFKM: 
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    OriGene Protein Over-expression Lysate for PFKM
    OriGene MassSpec for PFKM 
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    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



    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
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    LSBio Antibodies in human, mouse, rat for PFKM 

    Assay Products for PFKM: 
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    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)
    About This Section
    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,
    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: 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): 5/9 molecular function terms (GO ID links to tree view) (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 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pfkm):
     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 - Custom generated mouse model solutions for PFKM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    8/24 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): PFKM (NM_001166686)
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                         Customized lentivirus expression plasmids for stable overexpression of PFKM 

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


    (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 PFKM About   (see all 12)                                                                                              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
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Glucose metabolism
    Glucose metabolism0.50
    Glycolysis0.44
    4Carbon metabolism
    Carbon metabolism0.37
    Biosynthesis of amino acids0.37
    5Akt Signaling
    Akt Signaling0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    2 Downloadable PowerPoint Slides of QIAGEN 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


    4        Reactome Pathways for PFKM
        Metabolism of carbohydrates
    Metabolism
    Glucose metabolism
    Glycolysis


    5/7         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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PFKM

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

    5/828 Interacting proteins for PFKM (P082371, 2, 3 ENSP000003528424) via UniProtKB, MINT, STRING, and/or I2D (see all 828)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    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:0006096glycolysis 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 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

    PFKM for compounds           About GeneDecksing

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

    Browse Tocris compounds for PFKM (K6PF)

    10/16 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--

    10/11 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)

    Search CenterWatch for drugs/clinical trials and news about PFKM / K6PF

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

    REFSEQ mRNAs for 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
    18/32 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/24 QIAGEN miScript miRNA 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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFKM
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PFKM
      QIAGEN 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 

    24/35 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 

    24/459 AceView cDNA sequences (see all 459):

    CF147069 AL517588 BM873741 BU683561 CA447343 BQ073492 BM709650 F04663 
    BQ214754 BQ227607 BM740899 BQ070740 BG576034 BQ940328 BQ889521 AA152157 
    BM664327 BE887098 AL045056 AU149582 CB152160 BM705923 BE793568 D21861 

    GeneLoc Exon Structure

    5/17 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™, 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

    PFKM expression in normal human tissues (normalized intensities)      PFKM embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   
     
     Somite (Muscoskeletal System)
             skeleton/axial skeleton   
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   
     
     Hair (Integumentary System)
             mouse/organ system/integumental system   

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

    SOURCE GeneReport for Unigene cluster: Hs.75160
        SABiosciences Custom PCR Arrays for PFKM
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for PFKM gene from 8/15 species (see all 15)    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 75.94(n)
    84.11(a)
      374064  NM_204223.1  NP_989554.2 
    lizard
    (Anolis carolinensis)
    Reptilia PFKM6
    6-phosphofructokinase
    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_165747.31  NP_724891.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H10A.1a3
    Y71H10A.11
    phosphofructokinase3
    Protein Y71H10A.11
    56(a)
    (best of 3)3
    57.17(n)1
    56.82(a)1
      X(2976190-2980515)3
    1805831  NM_171643.21  NP_741738.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PFK26
    PFK16
    Beta subunit of heterooctameric phosphofructokinas...
    Alpha subunit of heterooctameric phosphofructokina...
    34(a)
    32(a)
    many ↔ many
    many ↔ many
    XIII(671887-674766)
    VII(970771-973734)


    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
    Paralogs for PFKM gene
    PFKP2  PFKL2  
    13 SIMAP similar genes for PFKM using alignment to 23 protein entries:     K6PF_HUMAN     F8VP00_HUMAN     F8VW30_HUMAN     F8W1J8_HUMAN     Q96I60_HUMAN     F8VSL1_HUMAN     F8VTT5_HUMAN     H0YHB8_HUMAN     Q7KYX9_HUMAN     F8VSF7_HUMAN     H0YIS9_HUMAN     P78457_HUMAN     F8VNZ1_HUMAN     F8VVE3_HUMAN     F8VSF5_HUMAN     F8VZQ1_HUMAN     F8VTQ3_HUMAN     F8VZ53_HUMAN     F8VYK8_HUMAN     F8VZI0_HUMAN     F8VNX2_HUMAN     F8VX13_HUMAN     F8VUB8_HUMAN(see first protein):
    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) 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

    10/932 SNPs in PFKM are shown (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
    ----------
    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--------
    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
    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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20 diseases for PFKM:    About MalaCards
    glycogen storage disease vii    phosphoglycerate kinase deficiency    hyperuricemia    glycogen storage disease
    gastric ulcer    lactic acidosis    hemolytic anemia    down syndrome
    myopathy    insulin resistance    anemia    pneumonia
    mental retardation    tuberculosis    hypoxia    schizophrenia
    arthritis    pancreatitis    breast cancer    neuronitis

    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

    PubMed articles for PFKM gene, integrated from 9 sources (see all 125):
    (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. (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. (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. (1995)
    4. Mutations in muscle phosphofructokinase gene. (PubMed id 7550225)1, 2, 9 Raben N. and Sherman J.B. (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. (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. (1990)
    7. Physiogenomic analysis of statin-treated patients: do main-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    10. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. (2009)

    (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: 5213 HGNC: 8877 AceView: PFKM Ensembl:ENSG00000152556 euGenes: HUgn5213
    ECgene: PFKM Kegg: 5213 H-InvDB: PFKM

    (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 PFKM Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PFKM

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

    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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