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Gaa glucosidase, alpha, acid [ Mus musculus (house mouse) ]

Gene ID: 14387, updated on 5-Mar-2024

Summary

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Official Symbol
Gaaprovided by MGI
Official Full Name
glucosidase, alpha, acidprovided by MGI
Primary source
MGI:MGI:95609
See related
Ensembl:ENSMUSG00000025579 AllianceGenome:MGI:95609
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
E430018M07Rik
Summary
This gene encodes a lysosomal acid glucosidase that is involved in the degradation of glycogen. The encoded preproprotein undergoes proteolytic processing to generate a mature enzyme that cleaves alpha-1-4 and alpha-1-6 glycosidic bonds of glycogen, maltose and intermediate oligosaccharides within the lysosome. Mice lacking the encoded protein exhibit symptoms similar to human Pompe syndrome such as accumulation of glycogen in cardiac and skeletal muscle lysosomes resulting in reduced mobility and strength. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Expression
Ubiquitous expression in adrenal adult (RPKM 130.6), ovary adult (RPKM 120.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Gaa in Genome Data Viewer
Location:
11 E2; 11 83.35 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (119158789..119176284)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (119267963..119285458)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 40 Neighboring gene predicted gene, 35932 Neighboring gene predicted gene, 46303 Neighboring gene STARR-positive B cell enhancer mm9_chr11:119129170-119129471 Neighboring gene predicted gene, 39483 Neighboring gene eukaryotic translation initiation factor 4A3 Neighboring gene STARR-positive B cell enhancer ABC_E7111 Neighboring gene caspase recruitment domain family, member 14 Neighboring gene N-sulfoglucosamine sulfohydrolase (sulfamidase)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model. Rohm M, et al. Cells, 2023 Jun 11. PMID 37371072, Free PMC Article
  2. Degeneration of muscle spindles in a murine model of Pompe disease. Watkins B, et al. Sci Rep, 2023 Apr 21. PMID 37085544, Free PMC Article
  3. Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies. Aguilar-González A, et al. Int J Mol Sci, 2022 Jun 4. PMID 35682977, Free PMC Article
  4. Altered electrical properties in skeletal muscle of mice with glycogen storage disease type II. Nagy JA, et al. Sci Rep, 2022 Mar 29. PMID 35351934, Free PMC Article
  5. Muscle-directed gene therapy corrects Pompe disease and uncovers species-specific GAA immunogenicity. Eggers M, et al. EMBO Mol Med, 2022 Jan 11. PMID 34850579, Free PMC Article

See all (114) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GAA deficiency disrupts distal airway cells in Pompe disease.
    Title: GAA deficiency disrupts distal airway cells in Pompe disease.
  2. CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.
    Title: CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.
  3. the data unequivocally confirm that systemic absence of GAA induces a complex neuropathological cascade in the spinal cord.
    Title: Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology.
  4. GAA enzyme deficiency leads to glycogen accumulation in the trachea and bronchi and impairs the ability of lower airway smooth muscle to regulate calcium and respond appropriately to bronchodilator or constrictors.
    Title: Airway smooth muscle dysfunction in Pompe (Gaa(-/-) ) mice.
  5. GAA deficiency results in reduced mTORC1 activation that is partly responsible for the skeletal muscle wasting phenotype and can be amerliorated by leucine supplementation.
    Title: Suppression of mTORC1 activation in acid-α-glucosidase-deficient cells and mice is ameliorated by leucine supplementation.
  6. slow glucose release can be induced through the toggling of activities of the mucosal alpha-glucosidases by selective enzyme inhibition
    Title: Modulation of starch digestion for slow glucose release through "toggling" of activities of mucosal α-glucosidases.
  7. Results describe the inhibitory effects of Chana series chalcone derivatives on the activities of alpha-glucosidase and DPP-4, and on adipocyte differentiation.
    Title: Effects of novel chalcone derivatives on α-glucosidase, dipeptidyl peptidase-4, and adipocyte differentiation in vitro.
  8. These studies suggest that hyase enhances penetration of enzyme into the tissues including muscle during ERT and therefore hyase pretreatment may be important in treating Pompe disease.
    Title: Hyaluronidase increases the biodistribution of acid alpha-1,4 glucosidase in the muscle of Pompe disease mice: an approach to enhance the efficacy of enzyme replacement therapy.
  9. Power and torque did not change with age in control animals, but declined significantly in acid 1-4 alpha-glucosidase knockout mice in three age groups.
    Title: Age-related decline in muscle strength and power output in acid 1-4 alpha-glucosidase knockout mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables alpha-1,4-glucosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-1,4-glucosidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables alpha-1,4-glucosidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables alpha-1,4-glucosidase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables alpha-glucosidase activity ISO
Inferred from Sequence Orthology
more info
  
enables carbohydrate binding ISO
Inferred from Sequence Orthology
more info
  
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables glucan 1,6-alpha-glucosidase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity, acting on glycosyl bonds IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity, hydrolyzing O-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
  
enables maltose alpha-glucosidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within aorta development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cardiac muscle contraction ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within diaphragm contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in diaphragm contraction ISO
Inferred from Sequence Orthology
more info
  
involved_in glycogen catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within glycogen catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycogen catabolic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within glycogen metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycophagy ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within locomotory behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lysosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within lysosome organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lysosome organization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within muscle cell cellular homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neuromuscular process controlling posture IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of the force of heart contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within striated muscle contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within tissue development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vacuolar sequestering ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in autolysosome lumen IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome TAS
Traceable Author Statement
more info
 PubMed 
located_in membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
lysosomal alpha-glucosidase
Names
acid maltase
NP_001152796.1
NP_032090.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001159324.2 → NP_001152796.1  lysosomal alpha-glucosidase preproprotein

    See identical proteins and their annotated locations for NP_001152796.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK146538, AL672140, BB839328, BP767732
    Consensus CDS
    CCDS25713.1
    UniProtKB/Swiss-Prot
    P70699, Q3UJB2, Q8BGI6, Q91Z45
    Related
    ENSMUSP00000026666.7, ENSMUST00000026666.13
    Conserved Domains (5) summary
    cd06602
    Location:359 → 717
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:246 → 359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:82 → 130
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:340 → 825
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:147 → 253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  2. NM_008064.4 → NP_032090.3  lysosomal alpha-glucosidase preproprotein

    See identical proteins and their annotated locations for NP_032090.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK052211, AK146538, AL672140, BB839328, BP767732
    Consensus CDS
    CCDS25713.1
    UniProtKB/Swiss-Prot
    P70699, Q3UJB2, Q8BGI6, Q91Z45
    Related
    ENSMUSP00000101866.3, ENSMUST00000106259.9
    Conserved Domains (5) summary
    cd06602
    Location:359 → 717
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:246 → 359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam00088
    Location:82 → 130
    Trefoil; Trefoil (P-type) domain
    pfam01055
    Location:340 → 825
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:147 → 253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    119158789..119176284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P70699.2 GenPept UniProtKB/Swiss-Prot:P70699

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