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Description for Protein GCLC

glutamate-cysteine ligase, catalytic subunit
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 1)
Summary:
Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
6.3.2.2
KEGG - Orthology:
K11204
KEGG - Pathway(s):
hsa00480; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
-
Approved Symbol:
GCLC
(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):

  • L-Cysteine(db);
  • L-Glutamic Acid(db)

    Associated Genetic Diseases:

  • Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to(Pd);
  • Myocardial infarction, susceptibility to(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06032 Entrez Gene ID: 2729 OMIM ID: 606857 Swissprot Accession: P48506; Q14TF0;