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Description for Protein G6PD

glucose-6-phosphate dehydrogenase
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 11/1)
(membrane: 1; microparticles: 1; platelet: 8; secretome: 2; undefined: 1)
Summary:
This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.1.1.49
KEGG - Orthology:
K00036
KEGG - Pathway(s):
hsa00030; hsa00480; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Glucose-6-phosphate 1-dehydrogenase; glucose-6-phosphate; NADP oxidoreductase; G6PDH; Glucose-6-phosphate dehydrogenase isoform b
Approved Symbol:
G6PD
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 21
Human (de-) phosphorylation sites: 21; 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'-Monophosphoadenosine 5'-Diphosphoribose(db);
  • Hydroxyacetic Acid(db)

    Associated Genetic Diseases:

  • Chronic granuloma and hemolytic anemia(Pd);
  • G6PD a+(Pd);
  • G6PD A-(Pd);
  • G6PD Alhambra(Pd);
  • G6PD Amsterdam(Pd);
  • G6PD Andalus(Pd);
  • G6PD Asahi(Pd);
  • G6PD Aures(Pd);
  • G6PD Aveiro(Pd);
  • G6PD Beverly Hills(Pd);
  • G6PD Canton(Pd);
  • G6PD Chatham(Pd);
  • G6PD Coimbra(Pd);
  • G6PD Cosenza(Pd);
  • G6PD Gaohe(Pd);
  • G6PD Gastonia(Pd);
  • G6PD Guadalajara(Pd);
  • G6PD Harilaou(Pd);
  • G6PD Ierapetra(Pd);
  • G6PD Ilesha(Pd);
  • G6PD Iowa(Pd);
  • G6PD Japan(Pd);
  • G6PD Kaiping(Pd);
  • G6PD Kerala-Kalyan(Pd);
  • G6PD Loma Linda(Pd);
  • G6PD Mahidol(Pd);
  • G6PD Mahidol-like(Pd);
  • G6PD Malaga(Pd);
  • G6PD Mediterranean(Pd);
  • G6PD Metaponto(Pd);
  • G6PD Mexico City(Pd);
  • G6PD Montalbano(Pd);
  • G6PD Nankang(Pd);
  • G6PD Nara(Pd);
  • G6PD Nashville(Pd);
  • G6PD Neapolis(Pd);
  • G6PD Orissa(Pd);
  • G6PD Pawnee(Pd);
  • G6PD Portici(Pd);
  • G6PD Puerto Limon(Pd);
  • G6PD Quing Yuan(Pd);
  • G6PD Rehovot(Pd);
  • G6PD RFLP(Pd);
  • G6PD Riverside(Pd);
  • G6PD Santamaria(Pd);
  • G6PD Santiago(Pd);
  • G6PD Santiago de Cuba(Pd);
  • G6PD Seattle-like(Pd);
  • G6PD Serres(Pd);
  • G6PD Split(Pd);
  • G6PD Sunderland(Pd);
  • G6PD Taiwan-Hakka 2(Pd);
  • G6PD Tomah(Pd);
  • G6PD Varnsdorf(Pd);
  • G6PD Viangchan(Pd);
  • G6PD Zurich(Pd);
  • Glucose-6-phosphate dehydrogenase variants, molecular defect unknown(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02377 Entrez Gene ID: 2539 OMIM ID: 305900 Swissprot Accession: P11413;