GAA

Description		alpha glucosidase
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GO Annotations	Cellular Component	Lysosome Lysosomal Membrane Plasma Membrane Membrane Azurophil Granule Membrane Lysosomal Lumen Extracellular Exosome Tertiary Granule Membrane Ficolin-1-rich Granule Membrane Autolysosome Lumen
	Molecular Function	Catalytic Activity Hydrolase Activity, Hydrolyzing O-glycosyl Compounds Alpha-1,4-glucosidase Activity Hydrolase Activity Hydrolase Activity, Acting On Glycosyl Bonds Carbohydrate Binding Alpha-glucosidase Activity
	Biological Process	Maltose Metabolic Process Regulation Of The Force Of Heart Contraction Diaphragm Contraction Heart Morphogenesis Carbohydrate Metabolic Process Glycogen Metabolic Process Glycogen Catabolic Process Disaccharide Metabolic Process Sucrose Metabolic Process Glucose Metabolic Process Striated Muscle Contraction Lysosome Organization Locomotory Behavior Tissue Development Aorta Development Vacuolar Sequestering Muscle Cell Cellular Homeostasis Neuromuscular Process Controlling Posture Neuromuscular Process Controlling Balance Cardiac Muscle Contraction Glycophagy
Pathways		Glycogen storage disease type II (GAA) Neutrophil degranulation Glycogen breakdown (glycogenolysis)
Drugs		Acarbose Miglitol AT2220 alpha-Arbutin
Diseases		Glycogen storage diseases (GSD), including: von Gierke disease (GSD type Ia); Pompe disease (GSD type II); Cori disease, Forbe disease (GSD type III); Andersen disease (GSD type IV); McArdle disease (GSD type V); Hers disease (GSD type VI); Tarui disease (GSD type VII); Phosphorylase kinase deficiency (GSD type IX); Fanconi-Bickel syndrome (GSD type XI); Glycogen synthase deficiency (GSD type 0)
GWAS		Blood protein levels ( 30072576) Platelet distribution width ( 32888494) Plateletcrit ( 32888494)
Interacting Genes		11 interacting genes: CPEB2 CREBBP DYNC1LI2 EP300 HIVEP1 NCF1 NUMBL PARD3B RAB2A SH3GLB2 STAT2
Entrez ID		2548
HPRD ID		06006
Ensembl ID		ENSG00000171298
Uniprot IDs		P10253
PDB IDs		5KZW 5KZX 5NN3 5NN4 5NN5 5NN6 5NN8 7P2Z 7P32
Enriched GO Terms of Interacting Partners?		Histone H3K18 Acetyltransferase Activity N-terminal Peptidyl-lysine Acetylation Histone H3K27 Acetyltransferase Activity Peptide Lactyltransferase (CoA-dependent) Activity Peptidyl-lysine Acetylation N-terminal Protein Amino Acid Acetylation Regulation Of Cellular Response To Heat Acetyltransferase Activity Cellular Response To Lectin Stimulatory C-type Lectin Receptor Signaling Pathway Histone Acetyltransferase Complex Protein-lysine-acetyltransferase Activity Regulation Of Innate Immune Response Protein Acetylation Positive Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Histone Acetyltransferase Activity Centrosome Localization Tau Protein Binding Transcription Coactivator Binding Protein Destabilization Canonical NF-kappaB Signal Transduction Peptidyl-lysine Propionylation Swimming Histone Lactyltransferase (CoA-dependent) Activity Peptidyl-lysine Butyrylation Peptidyl-lysine Crotonylation Histone H3K122 Acetyltransferase Activity Histone Butyryltransferase Activity Histone Crotonyltransferase Activity Negative Regulation Of Cytoplasmic Translational Elongation Damaged DNA Binding Response To Hypoxia Cell Surface Receptor Signaling Pathway Via JAK-STAT Cytoplasm P53 Binding Innate Immune Response Activating Cell Surface Receptor Signaling Pathway Response To Decreased Oxygen Levels Response To Oxygen Levels Histone H2B Acetyltransferase Activity Cell Surface Receptor Signaling Pathway Via STAT Acetylation-dependent Protein Binding Peptide Butyryltransferase Activity Peptide 2-hydroxyisobutyryltransferase Activity Protein Propionyltransferase Activity Peptide Crotonyltransferase Activity Neutrophil-mediated Killing Of Fungus Chromatin DNA Binding Regulation Of Defense Response Cellular Response To UV Positive Regulation Of Protein Localization To Nucleus
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