AGL Gene Summary [Human]
This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | AGL |
| Official Name | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Source:HGNC Symbol;Acc:HGNC:321] |
| Ensembl ID | ENSG00000162688 |
| Bio databases IDs | |
| Aliases | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase, glycogen debranching enzyme, glycogen storage disease type III |
| Synonyms | 1110061O17Rik, 9430004C13Rik, 9630046L06Rik, amylo-1,6-glucosidase, 4-alpha-glucanotransferase, amylo-1,6-glucosidase, 4-α-glucanotransferase, amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase, amylo-α-1,6-glucosidase and 4-α-glucanotransferase, AN, C77197, GDE, Glycogen debrancher |
| 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 AGL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- amylo-1,6-glucosidase
- 4-alpha-glucanotransferase
- glycogen debranching enzymye
- Amylo-alpha-1,6-glucosidase
- Central domain of human glycogen debranching enzyme
- Alpha amylase catalytic domain family
- N-terminal domain from the human glycogen debranching enzyme
- enzyme
- protein binding
- carbohydrate binding
- polysaccharide binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- glycogen storage disease type III
- glycogen storage disease type IIIB
- non-insulin-dependent diabetes mellitus
- hereditary disorder
- glycogen storage disease type IIIA
- Alzheimer disease
- kyphosis
- hereditary pancreatitis
- androgenic alopecia
- major depression
role in cell
- abnormal morphology
- response
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
- secretory granule lumen
- ficolin-1-rich granule lumen
- Extracellular Space
- intracellular space
- Nucleus
- sarcoplasmic reticulum
- cytosol
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AGL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycogen biosynthetic process
- response to glucocorticoid stimulus
- response to nutrient
- glycogen catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- sarcoplasmic reticulum
- cytoplasm
- isoamylase complex
- cytosol
- secretory granule lumen
- extracellular region
- inclusion body
Molecular Function
What the gene product does at the molecular level
- protein binding
- polyubiquitin binding
- glycogen debranching enzyme activity
- amylo-alpha-1,6-glucosidase activity
- 4-alpha-glucanotransferase activity
- polysaccharide binding