InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: GAA

Summary

InnateDB Gene

IDBG-642687.3

Last Modified

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

Gene Symbol

GAA

Gene Name

Lysosomal alpha-glucosidase

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000016021

Encoded Proteins

IDBP-695173

Lysosomal alpha-glucosidase

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 19:53100965-53113264

Strand

Reverse strand

Band

Transcripts

ENSBTAT00000021325

ENSBTAP00000021325

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

Orthologs

Species

Homo sapiens

Mus musculus

Gene ID

Gene Order

ENSG00000171298

View Gene Order

ENSMUSG00000025579

View Gene Order

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

KEGG

hsa00052

Galactose metabolism pathway

hsa00500

Starch and sucrose metabolism pathway

hsa04142

Lysosome pathway

mmu00500

Starch and sucrose metabolism pathway

mmu00052

Galactose metabolism pathway

mmu04142

Lysosome pathway

INOH

PID NCI

hes_heypathway

Notch-mediated HES/HEY network

Cross-References

SwissProt

Q9MYM4

TrEMBL

UniProt Splice Variant

Entrez Gene

280798

UniGene

Bt.52221 Bt.65694

RefSeq

NM_173913 XM_005221135 XM_005221136

HUGO

OMIM

CCDS

HPRD

IMGT

EMBL

AF171665 AF171666

GenPept

AAF81636 AAF81637

RNA Seq Atlas

280798