InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-71385

glucosidase, alpha; acid

IDBP-71387

glucosidase, alpha; acid

IDBP-763054

IDBP-763574

IDBP-762258

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

ENSMUSG00000025579

View Gene Order

ENSBTAG00000016021

Not yet available

Pathways

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

Hs.1437 Hs.733627

RefSeq

NM_000152 NM_001079803 NM_001079804 XM_005257193 XM_005257194

HUGO

OMIM

CCDS

CCDS32760

HPRD

06006

IMGT

EMBL

GenPept

RNA Seq Atlas