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
- Exhibits alpha-glucosidase activity. Predicted to be involved in carbohydrate metabolic process. Human ortholog(s) of this gene implicated in glycogen storage disease II. Is expressed in several structures, including eye; heart; liver; muscle; and pleuroperitoneal region. Orthologous to human GAA (glucosidase alpha, acid).
- 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 | 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
|
654 | ||||||||||
|
UniProtKB:A0A8M1QKP5
|
918 |
Interactions and Pathways
No data available
Plasmids
No data available