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
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-gaa | N/A | Bragato et al., 2020 |
| MO2-gaa | N/A | (2) |
| MO3-gaa | N/A | Li et al., 2021 |
| MO4-gaa | N/A | Li et al., 2021 |
| TALEN1-gaa | Wu et al., 2017 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| glycogen storage disease II | Alliance | Glycogen storage disease II | 232300 |
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| 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 |
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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 |
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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 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-139G16 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001921922 (1) | 3321 nt | ||
| Genomic | GenBank:CR392027 (1) | 110726 nt | ||
| Polypeptide | UniProtKB:A0A8M1QKP5 (1) | 918 aa |
- Cinzia, B., Flavia, B., Gary, I., Renato, M., Lorenzo, M. (2021) Therapeutic efficacy of 3,4-Diaminopyridine phosphate on neuromuscular junction in Pompe disease. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. 137:111357
- Li, Z., Li, B., Wang, J., Lu, Y., Chen, A.F.Y., Sun, K., Yu, Y., Chen, S. (2021) GAA deficiency promotes angiogenesis through upregulation of Rac1 induced by autophagy disorder. Biochimica et biophysica acta. Molecular cell research. 1868(5):118969
- Bragato, C., Carra, S., Blasevich, F., Salerno, F., Brix, A., Bassi, A., Beltrame, M., Cotelli, F., Maggi, L., Mantegazza, R., Mora, M. (2020) Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment. Biochimica et biophysica acta. Molecular basis of disease. 1866(5):165662
- Jiang, M., Yang, L., Chen, Z.G., Lai, S.S., Zheng, J., Peng, B. (2020) Exogenous maltose enhances Zebrafish immunity to levofloxacin-resistant Vibrio alginolyticus. Microbial biotechnology. 13(4):1213-1227
- Wu, J., Yang, Y., Sun, C., Sun, S., Li, Q., Yao, Y., Fei, F., Lu, L., Chang, Z., Zhang, W., Wang, X., Luo, F. (2017) Disruption of the gaa Gene in Zebrafish Fails to Generate the Phenotype of Classical Pompe Disease. DNA and cell biology. 36:10-17
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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