ZFIN is now using GRCz12tu for Genomic Data
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
Genome Assembly
GRCz12tu
Annotation Status
Current
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 extracellular region; lysosomal membrane; and synapse. 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
Expression
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
All Phenotype Data
9 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gaa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
glycogen storage disease II Alliance Pompe disease, infantile-onset 232300
Pompe disease, late-onset 621314
Associated With gaa Via Experimental Models
Human Disease Fish Conditions Citations
glycogen storage disease II WT + MO2-gaa standard conditions Bragato et al., 2020
glycogen storage disease II WT + MO1-gaa standard conditions Bragato et al., 2020
Gene Ontology
Protein Domains
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
UniProtKB:A0AC58J1M0 InterPro 733
UniProtKB:A0AC58J1M1 InterPro 654
UniProtKB:A0AC58J1M5 InterPro 706
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA gaa-201 (1)
Ensembl
Ensembl 1,257 nt
ZFIN BLAST
mRNA gaa-202 (1)
Ensembl
Ensembl 1,054 nt
ZFIN BLAST
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Genome Browsers
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations
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