Gene
gaa
- ID
- ZDB-GENE-070212-2
- Name
- alpha glucosidase
- Symbol
- gaa Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Enables alpha-glucosidase activity. Involved in glycogen catabolic process. Acts upstream of or within cholinergic synaptic transmission and neuromuscular synaptic transmission. Predicted to be located in lysosomal membrane. Is expressed in several structures, including eye; heart; liver; muscle; and pleuroperitoneal region. Used to study glycogen storage disease II. Human ortholog(s) of this gene implicated in glycogen storage disease II. Orthologous to human GAA (alpha glucosidase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Wu et al., 2017
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| glycogen storage disease II | Alliance | Glycogen storage disease II | 232300 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| glycogen storage disease II | WT + MO1-gaa | standard conditions | Bragato et al., 2020 |
| glycogen storage disease II | WT + MO2-gaa | standard conditions | Bragato et al., 2020 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR030458 | Glycosyl hydrolases family 31, active site |
| Conserved_site | IPR030459 | Glycosyl hydrolases family 31, conserved site |
| Domain | IPR000322 | Glycoside hydrolase family 31, TIM barrel domain |
| Domain | IPR000519 | P-type trefoil domain |
| Domain | IPR025887 | Glycoside hydrolase family 31, N-terminal domain |
| Domain | IPR048395 | Glycosyl hydrolase family 31, C-terminal domain |
| Homologous_superfamily | IPR011013 | Galactose mutarotase-like domain superfamily |
| Homologous_superfamily | IPR013780 | Glycosyl hydrolase, all-beta |
| Homologous_superfamily | IPR017853 | Glycoside hydrolase superfamily |
| Homologous_superfamily | IPR044913 | P-type trefoil domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Galactose mutarotase-like domain superfamily | Glycoside hydrolase family 31, N-terminal domain | Glycoside hydrolase family 31, TIM barrel domain | Glycoside hydrolase superfamily | Glycosyl hydrolase, all-beta | Glycosyl hydrolase family 31, C-terminal domain | Glycosyl hydrolases family 31, active site | Glycosyl hydrolases family 31, conserved site | P-type trefoil domain | P-type trefoil domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PW57 | InterPro | 654 | ||||||||||
| UniProtKB:A0A8M1QKP5 | InterPro | 918 |
Interactions and Pathways
No data available
Plasmids
No data available