InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GAA

Summary

InnateDB Protein

IDBP-71385.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GAA

Protein Name

glucosidase, alpha; acid

Synonyms

LYAG;

Species

Homo sapiens

Ensembl Protein

ENSP00000305692

InnateDB Gene

IDBG-71383 (GAA)

Protein Structure

UniProt Annotation

Function

Essential for the degradation of glygogen to glucose in lysosomes.

Subcellular Localization

Lysosome {ECO:0000269PubMed:17897319}. Lysosome membrane {ECO:0000269PubMed:17897319}.

Disease Associations

Glycogen storage disease 2 (GSD2) [MIM:232300]: A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. {ECO:0000269PubMed:10189220, ECO:0000269PubMed:10206684, ECO:0000269PubMed:10338092, ECO:0000269PubMed:10737124, ECO:0000269PubMed:11071489, ECO:0000269PubMed:11738358, ECO:0000269PubMed:12601120, ECO:0000269PubMed:12923862, ECO:0000269PubMed:14643388, ECO:0000269PubMed:14695532, ECO:0000269PubMed:14972326, ECO:0000269PubMed:15145338, ECO:0000269PubMed:15668445, ECO:0000269PubMed:16433701, ECO:0000269PubMed:1652892, ECO:0000269PubMed:16782080, ECO:0000269PubMed:1684505, ECO:0000269PubMed:16917947, ECO:0000269PubMed:17643989, ECO:0000269PubMed:18425781, ECO:0000269PubMed:18429042, ECO:0000269PubMed:1898413, ECO:0000269PubMed:19588081, ECO:0000269PubMed:20080426, ECO:0000269PubMed:20350966, ECO:0000269PubMed:21109266, ECO:0000269PubMed:22644586, ECO:0000269PubMed:22676651, ECO:0000269PubMed:7695647, ECO:0000269PubMed:7717400, ECO:0000269PubMed:7866409, ECO:0000269PubMed:7881422, ECO:0000269PubMed:7981676, ECO:0000269PubMed:8094613, ECO:0000269PubMed:8401535, ECO:0000269PubMed:8834250, ECO:0000269PubMed:9521422, ECO:0000269PubMed:9535769, ECO:0000269PubMed:9660056, ECO:0000269Ref.5}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000322 Glycoside hydrolase, family 31
IPR000519 P-type trefoil
IPR011013 Galactose mutarotase-like domain
IPR017853 Glycoside hydrolase, superfamily

PFAM

PF01055
PF00088

PRINTS

PIRSF

SMART

SM00018

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P10253