InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Protein: GAA

Summary

InnateDB Protein

IDBP-695173.2

Last Modified

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

Gene Symbol

GAA

Protein Name

Lysosomal alpha-glucosidase

Synonyms

Species

Bos taurus

Ensembl Protein

ENSBTAP00000021325

InnateDB Gene

IDBG-642687 (GAA)

Protein Structure

UniProt Annotation

Function

Essential for the degradation of glygogen to glucose in lysosomes. {ECO:0000250}.

Subcellular Localization

Lysosome {ECO:0000250}. Lysosome membrane {ECO:0000250}.

Disease Associations

Note=Defects in GAA are the cause of generalized glycogenosis. It is characterized by a accumulation of glycogen within lysosomes. This disease has been reported in Brahman and Shorthorn breeds. Its most common clinical representation is a failure to thrive, progressive muscular weakness and an un- coordinated gait.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

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:0016787	hydrolase activity
GO:0016798	hydrolase activity, acting on glycosyl bonds
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:0008152	metabolic process
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

Q9MYM4