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Aliases for GAA Gene

Aliases for GAA Gene

  • Glucosidase, Alpha; Acid 2 3
  • Aglucosidase Alfa 3 4
  • Acid Maltase 3 4
  • EC 3.2.1.20 4 64
  • Glycogen Storage Disease Type II 2
  • Lysosomal Alpha-Glucosidase 3
  • Pompe Disease 2
  • LYAG 3

External Ids for GAA Gene

Summaries for GAA Gene

Entrez Gene Summary for GAA Gene

  • 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]

GeneCards Summary for GAA Gene

GAA (Glucosidase, Alpha; Acid) is a Protein Coding gene. Diseases associated with GAA include glycogen storage disease ii and glycogen storage disease due to acid maltase deficiency, late-onset. Among its related pathways are Lysosome and Metabolism. GO annotations related to this gene include carbohydrate binding and maltose alpha-glucosidase activity. An important paralog of this gene is MGAM.

UniProtKB/Swiss-Prot for GAA Gene

  • Essential for the degradation of glygogen to glucose in lysosomes

Gene Wiki entry for GAA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAA Gene

Genomics for GAA Gene

Genomic Location for GAA Gene

Start:
80,101,541 bp from pter
End:
80,119,881 bp from pter
Size:
18,341 bases
Orientation:
Plus strand

Genomic View for GAA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GAA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAA Gene

Regulatory Elements for GAA Gene

Proteins for GAA Gene

  • Protein details for GAA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10253-LYAG_HUMAN
    Recommended name:
    Lysosomal alpha-glucosidase
    Protein Accession:
    P10253
    Secondary Accessions:
    • Q09GN4
    • Q14351
    • Q16302
    • Q8IWE7

    Protein attributes for GAA Gene

    Size:
    952 amino acids
    Molecular mass:
    105324 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GAA Gene

Proteomics data for GAA Gene at MOPED

Post-translational modifications for GAA Gene

  • Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor
  • The different forms of acid glucosidase are obtained by proteolytic processing
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Ser46, Thr52, Ser61, Asn140, Asn233, Asn390, Asn470, Asn652, Asn882, and Asn925

Other Protein References for GAA Gene

Domains for GAA Gene

UniProtKB/Swiss-Prot:

LYAG_HUMAN
Domain:
  • Contains 1 P-type (trefoil) domain.:
    • P10253
Family:
  • Belongs to the glycosyl hydrolase 31 family.:
    • P10253
genes like me logo Genes that share domains with GAA: view

No data available for Gene Families for GAA Gene

Function for GAA Gene

Molecular function for GAA Gene

GENATLAS Biochemistry: glucosidase,alpha-,acid,lysosomal,catalyzing the hydrolysis of alpha 1,4 and alpha 1,6-glucosidic linkages of glycogen
UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose
UniProtKB/Swiss-Prot Function: Essential for the degradation of glygogen to glucose in lysosomes

Enzyme Numbers (IUBMB) for GAA Gene

Gene Ontology (GO) - Molecular Function for GAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004558 alpha-1,4-glucosidase activity IDA 9505277
GO:0030246 carbohydrate binding IEA --
GO:0032450 maltose alpha-glucosidase activity IEA --
genes like me logo Genes that share ontologies with GAA: view
genes like me logo Genes that share phenotypes with GAA: view

Animal Models for GAA Gene

MGI Knock Outs for GAA:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for GAA Gene

Localization for GAA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAA Gene

Lysosome. Lysosome membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GAA Gene COMPARTMENTS Subcellular localization image for GAA gene
Compartment Confidence
lysosome 5
vacuole 5
golgi apparatus 2
plasma membrane 2
endoplasmic reticulum 1
endosome 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 9505277
GO:0005765 lysosomal membrane IDA 17897319
GO:0016020 membrane IDA 19946888
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GAA: view

Pathways for GAA Gene

genes like me logo Genes that share pathways with GAA: view

Pathways by source for GAA Gene

1 R&D Systems pathway for GAA Gene
1 BioSystems pathway for GAA Gene

Gene Ontology (GO) - Biological Process for GAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000023 maltose metabolic process IC 9505277
GO:0002026 regulation of the force of heart contraction IEA --
GO:0002086 diaphragm contraction IMP 16917947
GO:0003007 heart morphogenesis IEA --
GO:0005975 carbohydrate metabolic process TAS --
genes like me logo Genes that share ontologies with GAA: view

Compounds for GAA Gene

(5) Tocris Compounds for GAA Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor [73465-43-7]
1-Deoxynojirimycin Glucosidase I and II inhibitor [19130-96-2]
Kifunensine Inhibitor of class I alpha-mannosidases [109944-15-2]
Miglitol alpha-glucosidase inhibitor [72432-03-2]
OGT 2115 Antiangiogenic. Heparanase inhibitor [853929-59-6]

(9) HMDB Compounds for GAA Gene

Compound Synonyms Cas Number PubMed IDs
Alpha-D-Glucose
  • Hexopyranose
492-62-6
D-Fructose
  • Beta-d-arabino-hexulose
53188-23-1
D-Galactose
  • (+)-Galactose
59-23-4
D-Glucose
  • (+)-Glucose
50-99-7
D-Maltose
  • alpha-Malt sugar
69-79-4

(2) Drugbank Compounds for GAA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Acarbose
56180-94-0 target inhibitor
Miglitol
72432-03-2 target antagonist

(24) Novoseek inferred chemical compound relationships for GAA Gene

Compound -log(P) Hits PubMed IDs
glycogen 91 141
mannose 6-phosphate 79.7 11
acarbose 68.5 12
saci 51 2
maltotetraose 49.8 2
genes like me logo Genes that share compounds with GAA: view

Transcripts for GAA Gene

Unigene Clusters for GAA Gene

Glucosidase, alpha; acid:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GAA Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b · 17c ^ 18 ^
SP1: - - - -
SP2: - - -
SP3: -
SP4: -
SP5: - -
SP6:

ExUns: 19 ^ 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for GAA Gene

GeneLoc Exon Structure for
GAA
ECgene alternative splicing isoforms for
GAA

Expression for GAA Gene

mRNA expression in normal human tissues for GAA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GAA Gene

SOURCE GeneReport for Unigene cluster for GAA Gene Hs.1437

genes like me logo Genes that share expressions with GAA: view

Orthologs for GAA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GAA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAA 36
  • 98.77 (n)
  • 98.63 (a)
GAA 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GAA 36
  • 85.74 (n)
  • 84.06 (a)
GAA 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAA 36
  • 85.68 (n)
  • 84.32 (a)
GAA 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gaa 36
  • 80.93 (n)
  • 80.34 (a)
Gaa 16
Gaa 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GAA 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAA 37
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gaa 36
  • 81.25 (n)
  • 81.7 (a)
chicken
(Gallus gallus)
Aves GAA 37
  • 51 (a)
OneToOne
LOC422082 36
  • 74.06 (n)
  • 71.18 (a)
lizard
(Anolis carolinensis)
Reptilia GAA 37
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gaa 36
  • 64.48 (n)
  • 66.59 (a)
zebrafish
(Danio rerio)
Actinopterygii gaa 36
  • 60.83 (n)
  • 58.17 (a)
gaa 37
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea aagr-1 37
  • 33 (a)
ManyToMany
aagr-2 37
  • 33 (a)
ManyToMany
R05F9.12 38
  • 34 (a)
F53F4.8 38
  • 33 (a)
D2096.3 38
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45940 36
  • 48.65 (n)
  • 42.46 (a)
rice
(Oryza sativa)
Liliopsida Os01g0130400 36
  • 54.62 (n)
  • 42.94 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09281 36
  • 48.53 (n)
  • 40.86 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1039.11c 36
  • 46.02 (n)
  • 42.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 50 (a)
OneToOne
Species with no ortholog for GAA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GAA Gene

ENSEMBL:
Gene Tree for GAA (if available)
TreeFam:
Gene Tree for GAA (if available)

Paralogs for GAA Gene

Paralogs for GAA Gene

Selected SIMAP similar genes for GAA Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with GAA: view

Variants for GAA Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GAA Gene

P10253-LYAG_HUMAN
There are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer

Sequence variations from dbSNP and Humsavar for GAA Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs7567 -- 80,119,750(+) CCGCT(G/T)CCCGG utr-variant-3-prime
rs8132 -- 80,119,554(+) TGGGC(C/T)GGGGC utr-variant-3-prime
rs894305 -- 80,108,971(-) AACTT(C/T)TTGAT intron-variant
rs894306 -- 80,108,960(-) ATTCC(C/T)TCGAT intron-variant
rs1042393 Benign, - 80,105,798(+) CCCGC(A/G)TGTCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GAA Gene

Variant ID Type Subtype PubMed ID
nsv833561 CNV Loss 17160897
nsv469591 CNV Loss 16826518
nsv908972 CNV Loss 21882294
nsv9596 CNV Gain 18304495
nsv833562 CNV Loss 17160897

Relevant External Links for GAA Gene

HapMap Linkage Disequilibrium report
GAA
Human Gene Mutation Database (HGMD)
GAA
Locus Specific Mutation Databases (LSDB)
GAA

Disorders for GAA Gene

(1) OMIM Diseases for GAA Gene (606800)

UniProtKB/Swiss-Prot

LYAG_HUMAN
  • Glycogen storage disease 2 (GSD2) [MIM:232300]: A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. {ECO:0000269 PubMed:10189220, ECO:0000269 PubMed:10206684, ECO:0000269 PubMed:10338092, ECO:0000269 PubMed:10737124, ECO:0000269 PubMed:11071489, ECO:0000269 PubMed:11738358, ECO:0000269 PubMed:12601120, ECO:0000269 PubMed:12923862, ECO:0000269 PubMed:14643388, ECO:0000269 PubMed:14695532, ECO:0000269 PubMed:14972326, ECO:0000269 PubMed:15145338, ECO:0000269 PubMed:15668445, ECO:0000269 PubMed:16433701, ECO:0000269 PubMed:1652892, ECO:0000269 PubMed:16782080, ECO:0000269 PubMed:1684505, ECO:0000269 PubMed:16917947, ECO:0000269 PubMed:17643989, ECO:0000269 PubMed:18425781, ECO:0000269 PubMed:18429042, ECO:0000269 PubMed:1898413, ECO:0000269 PubMed:19588081, ECO:0000269 PubMed:20080426, ECO:0000269 PubMed:20350966, ECO:0000269 PubMed:21109266, ECO:0000269 PubMed:22644586, ECO:0000269 PubMed:22676651, ECO:0000269 PubMed:7695647, ECO:0000269 PubMed:7717400, ECO:0000269 PubMed:7866409, ECO:0000269 PubMed:7881422, ECO:0000269 PubMed:7981676, ECO:0000269 PubMed:8094613, ECO:0000269 PubMed:8401535, ECO:0000269 PubMed:8834250, ECO:0000269 PubMed:9521422, ECO:0000269 PubMed:9535769, ECO:0000269 PubMed:9660056, ECO:0000269 Ref.5}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(44) Novoseek inferred disease relationships for GAA Gene

Disease -log(P) Hits PubMed IDs
pompe disease 99.4 224
glycogen storage disease 88.4 21
myopathy 86.1 45
danon disease 85.7 6
infantile glycogen storage disease type ii 83.4 2

Relevant External Links for GAA

GeneTests
GAA
GeneReviews
GAA
Genetic Association Database (GAD)
GAA
Human Genome Epidemiology (HuGE) Navigator
GAA
genes like me logo Genes that share disorders with GAA: view

Publications for GAA Gene

  1. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. (PMID: 7717400) Boerkoel C.F. … Raben N. (Am. J. Hum. Genet. 1995) 3 4 23 49
  2. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. (PMID: 20080426) Labrousse P. … Hwu W.L. (Mol. Genet. Metab. 2010) 3 4 23 49
  3. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. (PMID: 18425781) Kroos M. … Reuser A. (Hum. Mutat. 2008) 3 4 23
  4. Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. (PMID: 18429042) Pittis M.G. … Filocamo M. (Hum. Mutat. 2008) 3 4 23
  5. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. (PMID: 16917947) Montalvo A.L. … Pittis M.G. (Hum. Mutat. 2006) 3 4 23

Products for GAA Gene

Sources for GAA Gene

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