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Description for Protein GBE1

glucan (1,4-alpha-), branching enzyme 1
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(microparticles: 1; secretome: 1)
Summary:
The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.4.1.18
KEGG - Orthology:
K00700
KEGG - Pathway(s):
hsa00500; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
GBE; 1,4-alpha-glucan branching enzyme; Brancher enzyme; Alpha-1,4-glucan, alpha-1,4-glucan-6-transglucosylase
Approved Symbol:
GBE1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 3
Human (de-) phosphorylation sites: 3; 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 IV, childhood neuromuscular(Pd);
  • Glycogen storage disease IV, classic hepatic(Pd);
  • Glycogen storage disease IV, combined hepatic and myopathic(Pd);
  • Glycogen storage disease IV, congenital neuromuscular(Pd);
  • Glycogen storage disease IV, fatal perinatal neuromuscular(Pd);
  • Glycogen storage disease IV, nonprogressive hepatic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01985 Entrez Gene ID: 2632 OMIM ID: 607839 Swissprot Accession: Q04446; B3KWV3; Q59ET0;