Version 5.4
Mus musculus Gene: Gaa
Summary
InnateDB Gene IDBG-214686.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Gaa
Gene Name glucosidase, alpha, acid
Synonyms E430018M07Rik
Species Mus musculus
Ensembl Gene ENSMUSG00000025579
Encoded Proteins
IDBP-214688
glucosidase, alpha, acid
IDBP-269143
glucosidase, alpha, acid
IDBP-269145
glucosidase, alpha, acid
IDBP-531718
glucosidase, alpha, acid
IDBP-541794
glucosidase, alpha, acid
IDBP-534849
glucosidase, alpha, acid
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000171298:
This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe\'s disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:119267887-119285454
Strand Forward strand
Band E2
Transcripts
ENSMUST00000026666 ENSMUSP00000026666
ENSMUST00000106259 ENSMUSP00000101866
ENSMUST00000106258 ENSMUSP00000101865
ENSMUST00000128753
ENSMUST00000132706 ENSMUSP00000119702
ENSMUST00000150562 ENSMUSP00000115128
ENSMUST00000143288 ENSMUSP00000121984
ENSMUST00000138510
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 13 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004558 alpha-glucosidase activity
GO:0030246 carbohydrate binding
GO:0032450 maltose alpha-glucosidase activity
Biological Process
GO:0002026 regulation of the force of heart contraction
GO:0002086 diaphragm contraction
GO:0003007 heart morphogenesis
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0005980 glycogen catabolic process
GO:0006941 striated muscle contraction
GO:0007040 lysosome organization
GO:0007626 locomotory behavior
GO:0009888 tissue development
GO:0043181 vacuolar sequestering
GO:0043587 tongue morphogenesis
GO:0046716 muscle cell cellular homeostasis
GO:0050884 neuromuscular process controlling posture
GO:0050885 neuromuscular process controlling balance
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction
Cellular Component
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000171298
View Gene Order
ENSBTAG00000016021
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu00500
Starch and sucrose metabolism pathway
mmu00052
Galactose metabolism pathway
mmu04142
Lysosome pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa00052
Galactose metabolism pathway
hsa00500
Starch and sucrose metabolism pathway
hsa04142
Lysosome pathway
INOH
PID NCI
hes_heypathway
Notch-mediated HES/HEY network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.406910 Mm.4793
RefSeq NM_001159324 NM_008064
OMIM
CCDS CCDS25713
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca