Gene
gbe1a
- ID
- ZDB-GENE-110411-171
- Name
- glucan (1,4-alpha-), branching enzyme 1a
- Symbol
- gbe1a Nomenclature History
- Previous Names
-
- si:ch211-213e17.1
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have 1,4-alpha-glucan branching enzyme activity. Predicted to be involved in glycogen biosynthetic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in glycogen storage disease IV and pulmonary tuberculosis. Orthologous to human GBE1 (1,4-alpha-glucan branching enzyme 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| glycogen storage disease IV | Alliance | Glycogen storage disease IV | 232500 |
| Polyglucosan body disease, adult form | 263570 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004193 | Glycoside hydrolase, family 13, N-terminal |
| Domain | IPR006047 | Glycosyl hydrolase, family 13, catalytic domain |
| Domain | IPR006048 | Alpha-amylase/branching enzyme, C-terminal all beta |
| Family | IPR037439 | 1,4-alpha-glucan-branching enzyme |
| Homologous_superfamily | IPR013780 | Glycosyl hydrolase, all-beta |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
| Homologous_superfamily | IPR017853 | Glycoside hydrolase superfamily |
Domain Details Per Protein
| Protein | Length | 1,4-alpha-glucan-branching enzyme | Alpha-amylase/branching enzyme, C-terminal all beta | Glycoside hydrolase, family 13, N-terminal | Glycoside hydrolase superfamily | Glycosyl hydrolase, all-beta | Glycosyl hydrolase, family 13, catalytic domain | Immunoglobulin E-set | Immunoglobulin-like fold |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M1RDT8
|
687 | ||||||||
|
UniProtKB:A0A2R8QQ91
|
687 |
Interactions and Pathways
No data available
Plasmids
No data available