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Gaa Gene Detail
Summary
  • Symbol
    Gaa
  • Name
    glucosidase, alpha, acid
  • Synonyms
    E430018M07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:95609
    NCBI Gene: 14387
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:119158789-119176284 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 83.35 cM, cytoband D-E
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    664 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95609
 protein coding gene Chr11:119158713-119176284 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019477
 protein coding gene Chr11:123638133-123655506 (+)
A/J MGP_AJ_G0019445
 protein coding gene Chr11:118168093-118187333 (+)
AKR/J MGP_AKRJ_G0019415
 protein coding gene Chr11:121728348-121745726 (+)
BALB/cJ MGP_BALBcJ_G0019420
 protein coding gene Chr11:118527091-118545513 (+)
C3H/HeJ MGP_C3HHeJ_G0019226
 protein coding gene Chr11:122042009-122061876 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019869
 protein coding gene Chr11:127411972-127431188 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017494
 protein coding gene Chr11:115163949-115181525 (+)
CAST/EiJ MGP_CASTEiJ_G0018780
 protein coding gene Chr11:123498650-123516039 (+)
CBA/J MGP_CBAJ_G0019197
 protein coding gene Chr11:132355909-132384888 (+)
DBA/2J MGP_DBA2J_G0019309
 protein coding gene Chr11:117541479-117559513 (+)
FVB/NJ MGP_FVBNJ_G0019301
 protein coding gene Chr11:117209034-117226548 (+)
LP/J MGP_LPJ_G0019379
 protein coding gene Chr11:123951488-123972395 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019334
 protein coding gene Chr11:131302044-131319256 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019908
 protein coding gene Chr11:122400586-122417932 (+)
PWK/PhJ MGP_PWKPhJ_G0018546
 protein coding gene Chr11:118948296-118965577 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018338
 protein coding gene Chr11:122156484-122173605 (+)
WSB/EiJ MGP_WSBEiJ_G0018832
 protein coding gene Chr11:122368257-122387383 (+)



Homology
more
  • Human Ortholog
    GAA, alpha glucosidase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GAA, alpha glucosidase
  • Synonyms
    LYAG
  • Links
    NCBI Gene ID: 2548
    neXtProt AC: NX_P10253
    UniProt: P10253

  • Chr Location
    17q25.3; chr17:80101533-80119881 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gaa mouse models; 1 with human GAA associations

Human Disease Mouse Models
      
IDs
 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 4 alleles in 4 genetic backgrounds
    6 phenotypes from multigenic genotypes
    4 images
    81 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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 ofthe disease appear to be strain-dependent.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    50
  • GO References
    23
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1071
  • Tissues
    211
  • cDNA Data
    260
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14387 NCBI Gene Model | MGI Sequence Detail 17496 C57BL/6J ±  kb
    transcript NM_008064 RefSeq | MGI Sequence Detail 3579 ZRU/MplStud  
    polypeptide P70699 UniProt | EBI | MGI Sequence Detail 953 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000007752 lysosomal alpha-glucosidase
      (term hierarchy)
    • EC
      3.2.1.20
    • InterPro Domains
      IPR011013 Galactose mutarotase-like domain superfamily
      IPR025887 Glycoside hydrolase family 31, N-terminal domain
      IPR000322 Glycoside hydrolase family 31, TIM barrel domain
      IPR017853 Glycoside hydrolase superfamily
      IPR013780 Glycosyl hydrolase, all-beta
      IPR048395 Glycosyl hydrolase family 31, C-terminal domain
      IPR030458 Glycosyl hydrolases family 31, active site
      IPR030459 Glycosyl hydrolases family 31, conserved site
      IPR017994 P-type trefoil, chordata
      IPR017957 P-type trefoil, conserved site
      IPR000519 P-type trefoil domain
      IPR044913 P-type trefoil domain superfamily
    • GlyGen
      P70699 8 sites, 15 N-linked glycans (5 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 268
      Genomic 2
      cDNA 262
      Primer pair 3
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9918, MGI:2442916
    References
    more
    • Summaries
      All 121
      Developmental Gene Expression 10
      Diseases 4
      Gene Ontology 23
      Phenotypes 81
    • Earliest
      J:322985 Murray AK, et al., The molecular heterogeneity of purified human liver lysosomal alpha-glucosidase (acid alpha-glucosidase). Arch Biochem Biophys. 1978 Jan 30;185(2):511-24
    • Latest
      J:343629 Rohm M, et al., Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe disease. Sci Rep. 2023 Dec 20;13(1):22822
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory