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

PFKM Gene

protein-coding   GIFtS: 69
GCID: GC12P048501

phosphofructokinase, muscle

(Previous names: phosphofructokinase, polypeptide X )
(Previous symbol: PFKX)
 Explore 24 diseases affiliated with
PFKM via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PFKM    

Aliases
for PFKM gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Phosphofructokinase, Muscle1 2     6-Phosphofructo-1-Kinase1
PFKX1 2 3     6-Phosphofructokinase, Muscle Type2
PFK-11 2     PFK12
Phosphofructokinase, Polypeptide X1 2     PFKA2
Phosphofructo-1-Kinase Isozyme A2 3     Phosphofructokinase-M3
Phosphofructokinase 12 3     Phosphohexokinase3
PFK-A2 3     Phosphofructokinase-M3
EC 2.7.1.113 8     Phosphohexokinase3
GSD72 5     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


Summaries
for PFKM gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
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

Proteins
for PFKM gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • GlcNAcylation decreases enzyme activity (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: PFKM
    OriGene Protein Over-expression Lysate: PFKM
    OriGene Custom Protein Services for PFKM 
    GenScript Custom Purified and Recombinant Proteins Services for PFKM
    Novus Biologicals PFKM Proteins
    Novus Biologicals PFKM Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for PFKM
    Uscn 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:0005625soluble fraction ----
    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: PFKM
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    GenScript Custom Superior Antibodies Services for PFKM
    Novus Biologicals PFKM Antibodies
    Abcam antibodies for PFKM 
    Uscn Antibodies for PFKM
    ThermoFisher Antibodies for PFKM

    Assay Products for PFKM: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PFKM
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PFKM

    Protein Domains /
    Families
    for PFKM gene

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

    4 InterPro domains/families:
     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 family: IPB000023 Phosphofructokinase

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


    Function
    for PFKM gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: PFKM
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PFKM
    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 plasmid: PFKM 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PFKM (see all 7)
    OriGene shRNA RFP: PFKM
    OriGene siRNA: PFKM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PFKM

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PFKM (see all 8)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PFKM (see all 4)
    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)
    Browse Sino Biological Human cDNA Clones
    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
    Search LifeMap BioReagents cell lines for PFKM

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

    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038726-phosphofructokinase activity ISS--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IDA8780720
    GO:0008022protein C-terminus binding IPI12649290
    GO:0008443phosphofructokinase activity ----


    PFKM for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Pfkmtm1Fbos for PFKM
         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


    Pathways & Interactions
    for PFKM gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glycolysis and gluconeogenesis (short map)
    		Glycolysis and gluconeogenesis (short map)1.00
    		Glycolysis and Gluconeogenesis0.60
    		Glycolysis and gluconeogenesis (short map)0.97
    		Glycolysis / Gluconeogenesis0.41
    2Glucose metabolism
    		Glucose metabolism1.00
    		Glycolysis0.44
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4AMPK Enzyme Complex Pathway
    		AMPK Enzyme Complex Pathway1.00
    5Akt Signaling
    		Akt Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    4 BioSystems Pathways for PFKM 
        Glycolysis and Gluconeogenesis
    Insulin Signaling
    glycolysis I
    Validated targets of C-MYC transcriptional activation

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


    5         Kegg Pathways  (Kegg details for PFKM):
        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)

    5/791 Interacting proteins for PFKM (P082371, 2, 3 ENSP000003528424) via UniProtKB, MINT, STRING, and/or I2D (see all 791)

    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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:0030388fructose 1,6-bisphosphate metabolic process ----


    PFKM for ontologies           About GeneDecksing



    Drugs & Compounds
    for PFKM gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for PFKM gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PFKM
    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 plasmid: PFKM 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PFKM (see all 7)
    OriGene shRNA RFP: PFKM
    OriGene siRNA: PFKM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PFKM
    Clone
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    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
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PFKM
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PFKM
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PFKM
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PFKM

    Additional cDNA 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 

    459 AceView cDNA sequences (see top 24):

    AA346302 BQ073492 BQ425020 J05533 BC021203 AA152157 BQ640633 CF125640 
    Y00698 BU683561 AV707835 BG612308 AL045056 F36248 BM771640 BG576034 
    BG056794 BU178090 AK126229 BQ073813 BE887098 BG392823 BI871662 BQ214754 
    BE793568 AA088897 AI370819 BU527437 AU123936 CA448865 BC012799 BU732958 
    BM975554 CR541698 BM969990 AI193636 BQ226011 CA447343 AI570067 BQ881873 
    AA181606 BQ214726 BE255961 BM988645 BM709650 BI761240 BC013298 BQ940328 
    BM791894 BM664327 BQ420495 AU149582 D21861 BM710783 BM453542 BQ889521 
    BX379685 CB044565 AU125803 AI041339 BQ574615 BM756267 BG288281 BM558970 
    BX281813 AA058541 BM873741 AL534236 BC000534 F04663 AL521830 AL121480 
    CA417379 BM707870 BC007798 CF147069 BM755834 BQ639191 BM740899 AK126020 
    AA211069 BQ946357 BQ423916 BM705923 D21862 BE794437 NM_000289 AL517588 
    AW575138 BQ227607 BQ932788 CB152160 AW411025 BM755249 BU528397 BG680613 
    N69033 BG818069 BQ070740 BE784043 BQ000738 AJ711332 BX330314 BP365907 
    BF725152 BQ954516 AU140085 AL042148 AL579772 BM754686 BI822959 CB858035 
    BP361134 BF804905 CF552266 AW248708 AA565440 BU172898 BG390757 BM476363 
    AU127281 AI149017 BQ642249 AI167484 BF791963 BM012108 BM809585 M26066 
    BE795046 AU133013 CF126025 BI559718 BQ220258 BQ062664 AU154165 BI257566 
    BF313329 BQ130332 BU527820 R54377 BM818062 BM740872 BM564806 AU116892 
    CF125294 AA112112 AA335696 AW498714 AL557807 BU177135 CF125562 BF305423 
    CF552113 BM662710 AA326813 BU535839 CB115045 BQ718444 AV725179 CO250190 
    AU133322 BG764083 BU149352 CB156757 BG762939 BM741694 AU123131 BG766087 
    BV203820 BM799385 BU153527 AI025666 BG720379 BE252513 AW162009 BP359041 
    CO397696 AA322227 U24183 R88611 BE047337 BG829924 BF797143 AL044391 
    BQ059756 AA214643 CF125352 CF780669 AA702482 BP346090 AI742141 BU187344 
    BG035551 BM694906 T16053 CF552087 BQ719916 BU734139 T89558 BG250497 
    BG470175 T28815 AI969477 AA447412 BE780960 AJ708049 BM827579 AI131039 
    H80741 BG421808 BG166564 BE792492 AU149899 BP359618 BG721647 AL517034 
    BM555750 BE314237 BP360203 AA707602 BM873746 AA722848 AU126049 AU133317 
    BE281392 C03309 BG820788 AU279862 AA694124 BF220138 AI361438 CO246630 
    BM685973 BU664310 BE794390 BQ932351 AU127247 BU731707 AA339688 BM663618 
    BG820488 BF531039 BX364231 BU165785 AI066575 AA328530 AA313679 BM464500 
    BQ948010 BQ719478 BF060702 T28316 R54376 BU571096 CF125865 BM995613 
    BV180101 BG911866 BM310062 AW402056 AA447413 BM827420 BG476513 BM541286 
    AA351879 BF348045 AU132373 BX402799 BQ949439 AA099169 BV203795 CD557969 
    AW950413 BQ056712 BU683485 AU132679 CB044566 BU508908 CD107187 AU154683 
    BI254510 BX421537 BQ773264 BQ278359 BI831095 BG423453 AA318884 CA389915 
    CF121378 AI022412 AU154432 AA088885 AA112841 AA090172 BE180669 AA305610 
    BG339679 BQ375557 BG762754 CD243932 F08446 AU149917 BP347722 AA362945 
    CB409739 C05288 BE313371 AV721487 CF597304 BG474780 AV751197 AJ711068 
    BF672585 AL534235 AA577189 BF347242 AA737925 AA872734 BM689954 BM463713 
    BI757877 BF973475 BI117576 BG252953 CB857847 BE870196 CB857554 CB857344 
    BE783968 AL044390 AL562030 AJ709092 AA678897 AA010923 BG750705 BF337848 
    AL525725 BE313021 AL517587 AI186158 AW160389 AA247663 AA101919 D58717 
    AA133709 AA722911 BI858685 AJ711519 AA192923 AA333473 BI118007 BM667601 
    CB857686 AA150003 BG249562 BQ350994 F34568 CO249085 W00602 BG824803 
    AI085097 AA092775 R37413 AA612878 H80740 AV691525 AA011311 AI017356 
    AU149395 BE798269 BP360187 BE515051 W26561 CO404590 BE019383 AW902324 
    AV749352 BI116962 BE785112 AV697754 BE296602 BE261342 AI075902 BI117702 
    BI224649 F00517 BG750023 AA112874 AA223777 AA057062 AI933027 AA662458 
    BF672291 AL562590 BM310330 BF689382 BF767589 BU728201 C00458 BG476069 
    AI763235 CO248156 C03154 BE255393 AI022767 BE350545 R12518 AA133587 
    AA186491 BG436882 BG827661 C05223 F05702 AV683753 AA193073 BX324525 
    BE049538 F00012 AA216280 CD049919 BQ718853 C02675 CD608023 BF738331 
    AA598871 H11377 BM714687 H11402 AU143861 AA730165 AI831823 CD580048 
    AA088907 BQ233645 AI433279 BE830667 BQ109152 AI185349 AA912484 BF923840 
    AW062524 AL517033 R13287 BX328373 BQ326317 BQ302728 AA181689 AI337468 
    T89468 BE297666 BF738308 AA653161 BF219905 CO247860 AW630524 CD243523 
    T98772 AA559214 BQ879543 

    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

    Expression
    for PFKM gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTTCTGCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PFKM
    In Situ
    Assay Products:     
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    Orthologs
    for PFKM gene

    (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 last universal common ancestor (LUCA).

    Orthologs for PFKM gene from 9/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 85(a)
    		 1 ↔ 1
    		 GL343536.1(124076-163929)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons PFK26
    PFK16
    (see all 11)    		 6-phosphofructokinase 1
    (see all 11)    		 17(a)
    16(a)
    (see all 11)    		 possible ortholog
    possible ortholog
    (see all 11)    		 5(19356356-19358125)
    4(14403347-14406592)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 15)    		 phosphofructokinase, putative, expressed
    (see all 15)    		 18(a)
    16(a)
    (see all 15)    		 possible ortholog
    possible ortholog
    (see all 15)    		 4(23278212-23280588)
    9(18410577-18412164)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria pfkA6
    		 6-phosphofructokinase I
    		 39(a)
    		 1 → many
    		 Chromosome(4105575-4106537)


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

    Paralogs
    for PFKM gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PFKM gene
    PFKP2  PFKL2  
    11 SIMAP similar genes for PFKM using alignment to 23 protein entries:     K6PF_HUMAN (see all proteins):
    DKFZp779O048    PKP2    PFKP    PFK-P    DKFZp686L2097    GART
    DKFZp686G1648    PS1TP6    PFKL    DKFZp666K083    PHACTR1

    PFKM for paralogs           About GeneDecksing



    Genomic Variants
    for PFKM gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/765 NCBI SNPs in PFKM are shown (see all 765)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219181931,2
    		Cpathogenic48524176(+) GGTTCA/C/G/T 
                AGTTG     		16 Q P R L mis10--------
    rs1455948571,2
    		--48497678(+) TGTCTA/GGGGCT 5 -- us2k1 int10--------
    rs558200561,2
    		C,F,--48497737(+) ACACCA/TGTAAT 5 -- int1 us2k14Minor allele frequency- T:0.43NA WA CSA 7
    rs1454193201,2
    		--48497742(+) TGTAAC/TCCCAG 5 -- int1 us2k10--------
    rs1380118321,2
    		--48497772(+) GGGCAA/GATCAC 5 -- int1 us2k10--------
    rs1891392631,2
    		--48497830(+) CTCTAC/GGAAAA 5 -- int1 us2k10--------
    rs1813114911,2
    		--48497918(+) GAACCC/TGGGAG 5 -- int1 us2k10--------
    rs717479471,2
    		C,--48498018(+) TATAT-/AGAGAGA 5 -- int1 us2k10--------
    rs582809061,2
    		C--48498019(+) ATATAT/GAGAGA 5 -- us2k1 int12Minor allele frequency- G:0.25WA CSA 4
    rs1853814511,2
    		--48498066(+) GGGAGA/GGAGAG 5 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for PFKM (48498922 - 48540187 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for PFKM
         2 CNVs: 30600 3888
    Human Gene Mutation Database (HGMD): PFKM

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PFKM
    DNA2.0 Custom Variant and Variant Library Synthesis for PFKM

    Disorders / Diseases
    for PFKM gene

    (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.)
    About This Section
    PFKM for disorders           About GeneDecksing

    OMIM gene information: 610681   
    OMIM disorders: 232800  
    UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237
  • Defects in PFKM are the cause of glycogen storage disease type 7 (GSD7) [MIM:232800]; also known as Tarui
    • disease. GSD7 is an autosomal recessive disorder characterized by exercise intolerance with associated nausea and
    vomiting. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop
    after vigorous exercise. Most patients obtain a "second wind" when the onset of exercise is followed by a brief rest
    period. In time patients adjust their activity level and are well compensated

    20/24 diseases for PFKM (see all 24):    About MalaCards
    glycogen storage disease    glycogen storage disease vii    phosphoglycerate kinase deficiency    lactic acidosis
    hyperuricemia    hemolytic anemia    down syndrome    insulin resistance
    cramps    gastric ulcer    myopathy    anemia
    seizures    pharyngitis    breast cancer    pneumonia
    cholesterol    hypoxia    arthritis    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for PFKM:
    Glycogen storage disease

    9 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: PFKM (4 documents)

    Export disorders for PFKM gene to outside databases

    Publications
    for PFKM gene

    (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 120):
    (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. 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)
    3. Mutations in muscle phosphofructokinase gene. (PubMed id 7550225)1, 2, 9 Raben N. and Sherman J.B. (1995)
    4. Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. (PubMed id 1833270)1, 2, 9 Yamasaki T.... Tarui S. (1991)
    5. Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase. (PubMed id 2140567)1, 2, 9 Sharma P.M.... McLachlan A. (1990)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. 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. (1996)
    8. Cloning and expression of a human muscle phosphofructokinase cDNA. (PubMed id 2526045)1, 2 Sharma P.M.... McLachlan A. (1989)
    9. 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. (1989)
    10. Cloning of human muscle phosphofructokinase cDNA. (PubMed id 2822475)1, 2 Nakajima H.... Tarui S. (1987)

    External Searches for PFKM gene

    (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)

    Genome Databases showing PFKM gene

    (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

    Other Databases showing PFKM gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PFKM gene

    (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

    Intellectual Property
    for PFKM gene

    (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



    Products
    for PFKM gene

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    About This Section

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