Lysosomal alpha-glucosidase

UniProt P10253 Organism Homo sapiens Gene GAA EC 3.2.1.20

Also known as: GAA

Function

Essential for the degradation of glycogen in lysosomes. Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans.

Classification

Family (Pfam): PF13802 Gal_mutarotas_2, PF01055 Glyco_hydro_31_2nd, PF21365 Glyco_hydro_31_3rd, PF00088 Trefoil
InterPro: Gal_mutarotase_sf_dom, GH, Glyco_hydro_31_AS, Glyco_hydro_31_C, Glyco_hydro_31_CS, Glyco_hydro_31_N_dom, Glyco_hydro_31_TIM, Glyco_hydro_b, P_trefoil_CS, P_trefoil_dom, P_trefoil_dom_sf
Functional cluster: Secreted Growth Factors & Cytokines

Experimental structures · PDB · 19

5KZW X-ray 2.00A
5KZX X-ray 2.00A
5NN3 X-ray 1.90A
5NN4 X-ray 1.83A
5NN5 X-ray 2.00A
5NN6 X-ray 2.00A
5NN8 X-ray 2.45A
7P2Z X-ray 1.85A
7P32 X-ray 1.82A
8CB1 X-ray 1.75A
8CB6 X-ray 1.90A
9GSV X-ray 1.80A
… and 7 more

A predicted model is available from AlphaFold.

Gene Ontology · 21

Disease associations

glycogen storage disease due to acid maltase deficiency, infantile onset MONDO:0017694
glycogen storage disease due to acid maltase deficiency, late-onset MONDO:0018485

Drugs targeting this protein · 4

MIGLITOL inhibitor
CELGOSIVIR inhibitor
DUVOGLUSTAT HYDROCHLORIDE stabiliser
VOGLIBOSE inhibitor

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Transmembrane protein 192 1 shared papers
Lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 1 shared papers
Vacuolar fusion protein CCZ1 homolog B 1 shared papers
Glycosylated lysosomal membrane protein 1 shared papers
Regulator of MON1-CCZ1 complex 1 shared papers
Prostatic acid phosphatase 1 shared papers
Proton-coupled amino acid transporter 1 1 shared papers
Vacuolar fusion protein CCZ1 homolog 1 shared papers
Solute carrier family 15 member 3 1 shared papers
E3 ubiquitin-protein ligase RNF13 1 shared papers
Sodium-independent sulfate anion transporter 1 shared papers
Vesicle-associated membrane protein 7 1 shared papers

Literature · 61 cited papers

Structure of human lysosomal acid alpha-glucosidase-a guide for the treatment of Pompe disease. Nat. Commun. · 2017
N-terminome analysis of the human mitochondrial proteome. Proteomics · 2015
Novel GAA mutations in patients with Pompe disease. Gene · 2015
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J. Proteomics · 2014
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J. Rare Dis. · 2012
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Hum. Mutat. · 2012
Initial characterization of the human central proteome. BMC Syst. Biol. · 2011
Late form of Pompe disease with glycogen storage in peripheral nerves axons. J. Neurol. Sci. · 2011
Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene. J. Child Neurol. · 2010
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol. Genet. Metab. · 2010
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. J. Neurol. · 2009
Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J. Proteome Res. · 2009
… and 49 more in the literature graph

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