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Description for Protein PFKM

phosphofructokinase, muscle
7 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 3)
Summary:
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. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.1.11
    KEGG - Orthology:
    K00850
    KEGG - Pathway(s):
    hsa00010; hsa00030; hsa00051; hsa00052; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    6-phosphofructokinase, muscle type; Phosphohexokinase; Phosphofructo-1-kinase isozyme A; PFK-A
    Approved Symbol:
    PFKM
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 7
    Human (de-) phosphorylation sites: 7; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Glycogen storage disease VII(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01988 Entrez Gene ID: 5213 OMIM ID: 610681 Swissprot Accession: P08237;