Homo sapiens Gene: GAA
Summary
InnateDB Gene IDBG-71383.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GAA
Gene Name glucosidase, alpha; acid
Synonyms LYAG;
Species Homo sapiens
Ensembl Gene ENSG00000171298
Encoded Proteins
glucosidase, alpha; acid
glucosidase, alpha; acid
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 17:80101556-80119879
Strand Forward strand
Band q25.3
Transcripts
ENST00000302262 ENSP00000305692
ENST00000390015 ENSP00000374665
ENST00000577106 ENSP00000458306
ENST00000572803
ENST00000574376
ENST00000573556
ENST00000570803 ENSP00000460543
ENST00000572080 ENSP00000459972
ENST00000570716
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [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:0000023 maltose metabolic 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:0005985 sucrose metabolic process
GO:0006006 glucose metabolic process
GO:0006941 striated muscle contraction
GO:0007040 lysosome organization
GO:0007626 locomotory behavior
GO:0009888 tissue development
GO:0043181 vacuolar sequestering
GO:0046716 muscle cell cellular homeostasis
GO:0050884 neuromuscular process controlling posture
GO:0050885 neuromuscular process controlling balance
GO:0060048 cardiac muscle contraction
Cellular Component
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Galactose metabolism pathway
Starch and sucrose metabolism pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Notch-mediated HES/HEY network
Cross-References
SwissProt
TrEMBL I3L0S5 I3L3L3
UniProt Splice Variant
Entrez Gene 2548
UniGene Hs.1437 Hs.733627
RefSeq NM_000152 NM_001079803 NM_001079804 XM_005257193 XM_005257194
HUGO HGNC:4065
OMIM 606800
CCDS CCDS32760
HPRD 06006
IMGT
EMBL AC087741
GenPept
RNA Seq Atlas 2548