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

Summary

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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GAA deficiency disrupts distal airway cells in Pompe disease.
Title: GAA deficiency disrupts distal airway cells in Pompe disease.
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.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (4) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gaa (e-PCR), detects polymorphism
- UniSTS:546775

Gaa (e-PCR), detects polymorphism
- UniSTS:526040

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	IEA Inferred from Electronic Annotation more info
enables carbohydrate binding	ISO Inferred from Sequence Orthology more info
enables glucan 1,6-alpha-glucosidase activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle contraction	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
involved_in glycogen catabolic process	ISS Inferred from Sequence or Structural Similarity 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 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	IEA Inferred from Electronic Annotation more info
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 lysosomal membrane	IEA Inferred from Electronic Annotation 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

EC 3.2.1.20

NP_032090.3

EC 3.2.1.20

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)

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
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