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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 63
  • Glycogen Storage Disease Type II 2
  • Glucosidase, Alpha; Acid 2
  • Glucosidase, Alpha Acid 5
  • Pompe Disease 2
  • LYAG 3

External Ids for GAA Gene

Previous GeneCards Identifiers for GAA Gene

  • GC17M077620
  • GC17P081361
  • GC17P078637
  • GC17P078775
  • GC17P075689
  • GC17P078075
  • GC17P073516

Summaries for GAA Gene

Entrez Gene Summary for GAA Gene

  • This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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, infantile onset. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include carbohydrate binding and alpha-1,4-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.

Tocris Summary for GAA Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for GAA Gene

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

Genomics for GAA Gene

Regulatory Elements for GAA Gene

Promoters for GAA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GAA on UCSC Golden Path with GeneCards custom track

Genomic Location for GAA Gene

Chromosome:
17
Start:
80,101,531 bp from pter
End:
80,119,881 bp from pter
Size:
18,351 bases
Orientation:
Plus strand

Genomic View for GAA Gene

Genes around GAA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Glycosylation at Ser 61, Asn 140, Asn 233, Asn 390, Asn 470, Asn 652, Asn 882, and Asn 925
  • Modification sites at PhosphoSitePlus

Other Protein References for GAA Gene

Antibody Products

Domains & Families for GAA Gene

Suggested Antigen Peptide Sequences for GAA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10253

UniProtKB/Swiss-Prot:

LYAG_HUMAN :
  • Contains 1 P-type (trefoil) domain.
  • Belongs to the glycosyl hydrolase 31 family.
Domain:
  • Contains 1 P-type (trefoil) domain.
Family:
  • Belongs to the glycosyl hydrolase 31 family.
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

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

Human Phenotype Ontology for GAA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GAA Gene

MGI Knock Outs for GAA:

Animal Model Products

  • Taconic Biosciences Mouse Models for GAA

miRNA for GAA Gene

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
extracellular 5
lysosome 5
vacuole 5
golgi apparatus 2
plasma membrane 2
chloroplast 1
endoplasmic reticulum 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for GAA Gene

Pathways & Interactions for GAA Gene

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

Pathways by source 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:0002086 diaphragm contraction IEA,IMP 16917947
GO:0003007 heart morphogenesis IEA --
GO:0007626 locomotory behavior IEA --
GO:0009888 tissue development IEA --
genes like me logo Genes that share ontologies with GAA: view

No data available for SIGNOR curated interactions for GAA Gene

Drugs & Compounds for GAA Gene

(15) Drugs for GAA Gene - From: Novoseek, HMDB, DrugBank, Tocris, DGIdb, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acarbose Approved, Investigational Pharma inhibitor, Target Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 80
Miglitol Approved Pharma Target, antagonist 12
maltose Experimental Pharma 0
Sucrose Experimental Pharma 0
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 0

(21) Additional Compounds for GAA Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
53188-23-1
D-Glucose
  • Roferose ST
  • (+)-Glucose
  • Anhydrous dextrose
  • Cerelose
  • Cerelose 2001
50-99-7
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
1-Deoxymannojirimycin hydrochloride
73465-43-7

(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
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
OGT 2115 Antiangiogenic. Heparanase inhibitor 853929-59-6

(1) ApexBio Compounds for GAA Gene

Compound Action Cas Number
Acarbose Alpha-glucosidase inhibitor 56180-94-0
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

Protein differential expression in normal tissues from HIPED for GAA Gene

This gene is overexpressed in Urine (25.4) and Nasal epithelium (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GAA: view

Protein tissue co-expression partners for GAA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GAA Gene

Orthologs for GAA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GAA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GAA 35
  • 85.74 (n)
  • 84.06 (a)
GAA 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAA 35
  • 85.68 (n)
  • 84.32 (a)
GAA 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gaa 35
  • 80.93 (n)
  • 80.34 (a)
Gaa 16
Gaa 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GAA 35
  • 98.77 (n)
  • 98.63 (a)
GAA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gaa 35
  • 81.25 (n)
  • 81.7 (a)
oppossum
(Monodelphis domestica)
Mammalia GAA 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAA 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC422082 35
  • 74.06 (n)
  • 71.18 (a)
GAA 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAA 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gaa 35
  • 64.48 (n)
  • 66.59 (a)
zebrafish
(Danio rerio)
Actinopterygii gaa 35
  • 60.83 (n)
  • 58.17 (a)
gaa 36
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea D2096.3 37
  • 36 (a)
F53F4.8 37
  • 33 (a)
R05F9.12 37
  • 34 (a)
aagr-1 36
  • 33 (a)
ManyToMany
aagr-2 36
  • 33 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45940 35
  • 48.65 (n)
  • 42.46 (a)
rice
(Oryza sativa)
Liliopsida Os01g0130400 35
  • 54.62 (n)
  • 42.94 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09281 35
  • 48.53 (n)
  • 40.86 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1039.11c 35
  • 46.02 (n)
  • 42.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(2) 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
rs1800299 - 80,104,857(+) GCTTC(A/G/T)ATTGC reference, missense
rs1042393 - 80,105,798(+) CCCGC(A/G)TGTCC reference, missense
rs1042395 - 80,105,870(+) CGTGC(A/G)CCGGC reference, missense
VAR_004288 Glycogen storage disease 2 (GSD2)
VAR_004289 Glycogen storage disease 2 (GSD2)

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

Variation tolerance for GAA Gene

Residual Variation Intolerance Score: 83.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.92; 83.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GAA Gene

HapMap Linkage Disequilibrium report
GAA
Human Gene Mutation Database (HGMD)
GAA

Disorders for GAA Gene

MalaCards: The human disease database

(26) MalaCards diseases for GAA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease ii
  • acid maltase deficiency
glycogen storage disease due to acid maltase deficiency, infantile onset
  • alpha-1,4-glucosidase acid deficiency, infantile onset
glycogen storage disease due to acid maltase deficiency, late-onset
  • alpha-1,4-glucosidase acid deficiency, late onset
glycogen storage disease
  • glycogenoses
danon disease
  • antopol disease
- elite association - COSMIC cancer census association via MalaCards
Search GAA in MalaCards View complete list of genes associated with diseases

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:25681614, 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.

Relevant External Links for GAA

Genetic Association Database (GAD)
GAA
Human Genome Epidemiology (HuGE) Navigator
GAA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GAA
genes like me logo Genes that share disorders with GAA: view

No data available for Genatlas for GAA Gene

Publications for GAA Gene

  1. 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 48 67
  2. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. (PMID: 16702880) Zhang H. … Bali D. (Genet. Med. 2006) 23 25 26
  3. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. (PMID: 16763908) Gelb M.H. … Chamoles N.A. (J. Inherit. Metab. Dis. 2006) 23 25 26
  4. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. (PMID: 15292070) Li Y. … Gelb M.H. (Clin. Chem. 2004) 23 25 26
  5. High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. (PMID: 19362502) Kumamoto S. … Okumiya T. (Mol. Genet. Metab. 2009) 3 23

Products for GAA Gene

Sources for GAA Gene

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