GBE1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GBE1 |
| Official Name | 1,4-alpha-glucan branching enzyme 1 [Source:HGNC Symbol;Acc:HGNC:4180] |
| Ensembl ID | ENSG00000114480 |
| Bio databases IDs | |
| Aliases | 1,4-alpha-glucan branching enzyme 1, glycogen branching enzyme, Andersen disease, glycogen storage disease type IV |
| Synonyms | 1,4-alpha Glucan Branching Enzyme, 1,4-alpha-glucan branching enzyme 1, 1,4-α Glucan Branching Enzyme, 1,4-α-glucan branching enzyme 1, 2310045H19Rik, 2810426P10Rik, APBD, D16Ertd536e, GBE, Glucan (1,4-alpha-), branching enzyme 1, Glucan (1,4-α-), branching enzyme 1, GSD4 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GBE1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 1,4-alpha-glucan branching enzyme
- E_set
- X25 domain of Bacillus acidopullulyticus pullulanase and similar proteins
- Alpha amylase, catalytic domain
- enzyme
- protein binding
- alpha-1,4-glucan:alpha-1,4-glucan 6-glycosyltransferase
- Alpha amylase, C-terminal all-beta domain
- Maltogenic Amylase, C-terminal domain
- Alpha-amylase domain
- Carbohydrate-binding module 48 (Isoamylase N-terminal domain)
- Alpha amylase catalytic domain family
- carbohydrate binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- acute myeloid leukemia
- glycogen storage disease type IV
- congenital neuromuscular glycogen storage disease type IV
- hereditary disorder
- GBE1-related disorder
- childhood neuromuscular glycogen storage disease type IV
- coronary artery disease
- combined hepatic and myopathic glycogen storage disease type IV
- fatal perinatal neuromuscular glycogen storage disease type IV
regulates
- glycogen
- D-glucose
- AR
role in cell
- activation in
- cell death
- apoptosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GBE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- generation of precursor metabolites and energy
- glycogen biosynthetic process
- glycogen metabolic process
- negative regulation of neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- 1,4-alpha-glucan branching enzyme activity
- protein binding
- cation binding
- carbohydrate binding
- hydrolase activity, hydrolyzing O-glycosyl compounds