GBE1
1,4-alpha-glucan-branching enzyme
Protein Summary
Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable). 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, Jul 2008]
- ENST00000429644
- ENSP00000410833
- ENSG00000114480
- GBE
- APBD
- GSD4
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
protein domain | 1 | ||
disease perturbation | 0.95 | ||
transcription factor binding site profile | 0.91 | ||
transcription factor perturbation | 0.84 | ||
kinase perturbation | 0.76 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 229.2 (req: < 5)
Gene RIFs: 24 (req: <= 3)
Antibodies: 330 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 229.2 (req: >= 5)
Gene RIFs: 24 (req: > 3)
Antibodies: 330 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 8
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0