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Description for Protein PKLR

pyruvate kinase, liver and RBC
8 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • PIPKc: Phosphatidylinositol phosphate kinases
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.1.40
    KEGG - Orthology:
    K12406
    KEGG - Pathway(s):
    hsa00010; hsa00230; hsa00620; hsa01100; hsa04910; hsa04930; hsa04950
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Pyruvate kinase, liver and RBC isoform 1; Pyruvate kinase, liver and RBC isoform 2; Pyruvate kinase isozymes R/L; EC 2.7.1.40; R type/L type pyruvate kinase; Red cell/liver pyruvate kinase; PK1; PKL; Pyruvate kinase liver and RBC; RPK; Pyruvate kinase liver and RBC type; Pyruvate kinase liver and blood cell; ATP:pyruvate 2-O-phosphotransferase
    Approved Symbol:
    PKLR
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; 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):

  • 2-Phosphoglycolic Acid(db);
  • Fructose-1,6-Diphosphate(db);
  • Pyruvic acid(db)

    Associated Genetic Diseases:

  • Adenosine triphosphate, elevated, of erythrocytes(Pd);
  • Pyruvate kinase deficiency(Pd);
  • Pyruvate kinase deficiency, Amish type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 11841 Entrez Gene ID: 5313 OMIM ID: 609712 Swissprot Accession: P30613;