NUMBL and GAA

Data Source:
BioGRID (two hybrid)

		NUMBL	GAA
Description		NUMB like endocytic adaptor protein	alpha glucosidase
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GO Annotations	Cellular Component	Cytoplasm	Lysosome Lysosomal Membrane Plasma Membrane Membrane Azurophil Granule Membrane Lysosomal Lumen Intracellular Membrane-bounded Organelle Extracellular Exosome Tertiary Granule Membrane Ficolin-1-rich Granule Membrane
	Molecular Function	Protein Binding	Hydrolase Activity, Hydrolyzing O-glycosyl Compounds Alpha-1,4-glucosidase Activity Carbohydrate Binding Maltose Alpha-glucosidase Activity
	Biological Process	Nervous System Development Axonogenesis Cytokine-mediated Signaling Pathway Protein Metabolic Process Lateral Ventricle Development Neuroblast Division In Subventricular Zone Adherens Junction Organization Positive Regulation Of Neurogenesis	Maltose Metabolic Process Regulation Of The Force Of Heart Contraction Diaphragm Contraction Heart Morphogenesis Glycogen Catabolic Process Sucrose Metabolic Process Glucose Metabolic Process Lysosome Organization Locomotory Behavior Tissue Development Vacuolar Sequestering Neutrophil Degranulation Muscle Cell Cellular Homeostasis Neuromuscular Process Controlling Posture Neuromuscular Process Controlling Balance Cardiac Muscle Contraction
Pathways			Glycogen storage disease type II (GAA) Neutrophil degranulation Glycogen breakdown (glycogenolysis)
Drugs			Acarbose Miglitol AT2220
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		Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) level) ( 27702941) Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio) ( 27702941) Caffeine metabolism (plasma 3,7-dimethylxanthine (theobromine) level) ( 27702941) Carotid intima media thickness (mean) ( 31801372) Kawasaki disease ( 22446962) Lung adenocarcinoma ( 28604730) Lung cancer ( 28604730)	Blood protein levels ( 30072576) Platelet distribution width ( 32888494) Plateletcrit ( 32888494)
Interacting Genes		23 interacting genes: ACTN1 APP ATXN1 BHLHE40 EGFR EPS15 ESRP2 GAA GPATCH8 GRIP1 MAGED1 NOTCH1 PSMA3 RBFOX1 RIPK1 SIAH1 SPSB3 TAB2 THPO TMC5 TRAF5 TRAF6 YWHAG	9 interacting genes: CPEB2 DYNC1LI2 EP300 HIVEP1 NCF1 NUMBL PARD3B SH3GLB2 STAT2
Entrez ID		9253	2548
HPRD ID		04931	06006
Ensembl ID		ENSG00000105245	ENSG00000171298
Uniprot IDs		A0A0C4DGH3 A8K033 B7Z5W0 Q9Y6R0	P10253
PDB IDs		3F0W	5KZW 5KZX 5NN3 5NN4 5NN5 5NN6 5NN8
Enriched GO Terms of Interacting Partners?
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