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Gaa
Gene Detail
Symbol

Name
ID
Gaa
glucosidase, alpha, acid
MGI:95609
Synonyms
E430018M07Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 11
83.35 cM, cytoband D-E
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr11:119267887-119285454 bp, + strand
From VEGA annotation of GRCm38

  17568 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37268  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: GAA
Protein SuperFamily: lysosomal alpha-glucosidase
Gene Tree: Gaa

Human
homologs
GAA, glucosidase, alpha; acid
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2548
neXtProt AC: NX_P10253

Human Synonyms: LYAG

Human Chr (Location): 17q25.2-q25.3; chr17:80101531-80119881 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human GAA

Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(6) Targeted(6) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous inactivation of this gene leads to massive glycogen accumulation in multiple organs, cardiomyopathy, hypoactivity, severe motor disability, profound muscle weakness and wasting, and progressive kyphosis. The age of onset and clinical course of the disease appear to be strain-dependent.
 
Human Diseases Modeled in Mice Using Gaa (1)    Mutations Annotated to Human Diseases (5)    Phenotype Images(4)
Interactions
Gaa interacts with 70 markers (Mir1a-1, Mir1a-2, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (45 annotations)
Process carbohydrate metabolic process, cardiac muscle contraction, ...
Component extracellular exosome, lysosomal membrane, ...
Function alpha-1,4-glucosidase activity, carbohydrate binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (359)    Tissues (204)    Images (31)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 342
Northern blot 11
RT-PCR 6
cDNA source data(259)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(266) Genomic(2) cDNA(261) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000003997 (Evidence)
Ensembl Gene Model ENSMUSG00000025579 (Evidence)
Entrez Gene 14387 (Evidence)
UniGene 4793
DFCI TC1573788, TC1622513, TC1721451, TC1778331
DoTS DT.101738986, DT.101741469, DT.91325123, DT.94304519, DT.94391129, DT.97373353, DT.97373359, DT.97373413
EC 3.2.1.20
Consensus CDS Project CCDS25713.1
International Mouse Phenotyping Consortium Status Gaa
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003997 VEGA Gene Model | MGI Sequence Detail 17568 C57BL/6J ±  kb
transcript OTTMUST00000008875 VEGA | MGI Sequence Detail 3633 Not Applicable 
polypeptide OTTMUSP00000004330 VEGA | MGI Sequence Detail 953 Not Applicable 

For the selected sequences
All sequences(93) RefSeq(4) UniProt(5)
Polymorphisms
RFLP(1) : SNPs within 2kb(192 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011013 Galactose mutarotase-like domain
InterPro IPR000322 Glycoside hydrolase family 31
InterPro IPR025887 Glycoside hydrolase family 31, N-terminal domain
InterPro IPR017853 Glycoside hydrolase superfamily
InterPro IPR030458 Glycosyl hydrolases family 31, active site
InterPro IPR030459 Glycosyl hydrolases family 31, conserved site
InterPro IPR017957 P-type trefoil, conserved site
InterPro IPR000519 P-type trefoil domain
Protein Ontology PR:000007752 lysosomal alpha-glucosidase
References
(Earliest) J:6674 Stallings RL, et al., Confirmational, provisional, and/or regional assignment of 15 enzyme loci onto Chinese hamster autosomes 1, 2, and 7. Somatic Cell Genet. 1981 Nov;7(6):683-98
(Latest) J:217756 Falk DJ, et al., Peripheral nerve and neuromuscular junction pathology in Pompe disease. Hum Mol Genet. 2015 Feb 1;24(3):625-36
All references(84)
Disease annotation references (7)
Other
accession IDs
MGD-MRK-9918, MGI:2442916

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory