GBE1

Gene Name		glucan (1,4-alpha-), branching enzyme 1
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Gene Ontology Annotations	Cellular Component	Cytosol Extracellular Vesicular Exosome
	Molecular Function	1,4-alpha-glucan Branching Enzyme Activity Hydrolase Activity, Hydrolyzing O-glycosyl Compounds Cation Binding
	Biological Process	Carbohydrate Metabolic Process Glycogen Metabolic Process Glycogen Biosynthetic Process Glucose Metabolic Process Generation Of Precursor Metabolites And Energy Pathogenesis Small Molecule Metabolic Process
Pathways		Glucose metabolism Glycogen synthesis Myoclonic epilepsy of Lafora Glycogen storage diseases Metabolism of carbohydrates
Drugs
Diseases
GWAS
Protein-protein Interactions		4 interactors: EPHB3 PGD PRMT6 TRDMT1
Entrez ID		2632
HPRD ID		01985
Ensembl ID		ENSG00000114480
Uniprot IDs		E9PGM4 Q04446 Q59ET0
PDB IDs		4BZY
Enriched GO Terms of Interacting Partners?		D-gluconate Metabolic Process Histone H3-R2 Methylation Pentose-phosphate Shunt, Oxidative Branch Pentose Biosynthetic Process C-5 Methylation Of Cytosine Peptidyl-arginine Methylation, To Asymmetrical-dimethyl Arginine Methylation DNA Methylation On Cytosine Dendritic Spine Morphogenesis Histone H4-R3 Methylation Peptidyl-arginine N-methylation Corpus Callosum Development Dendritic Spine Development Pentose-phosphate Shunt Dendritic Spine Organization Histone Arginine Methylation Retinal Ganglion Cell Axon Guidance Peptidyl-arginine Methylation Glyceraldehyde-3-phosphate Metabolic Process Regulation Of Rac GTPase Activity TRNA Methylation Axonal Fasciculation Regulation Of Cdc42 GTPase Activity Regulation Of Cdc42 Protein Signal Transduction Glucose 6-phosphate Metabolic Process Positive Regulation Of Synapse Assembly Response To Amphetamine NADP Metabolic Process Neuron Recognition Regulation Of Rac Protein Signal Transduction Central Nervous System Projection Neuron Axonogenesis Substrate Adhesion-dependent Cell Spreading
Tagcloud ?		amylopectin branching cardiomyocyte cardiomyocytes compaction contrary e609x expectations fetal fetalis glycogen gsd hearts hydrops hypertrabeculation lethality manifestation noncompaction osmotic pathogenetic polysaccharide presumably recapitulated recessive stop swelling trabeculation ventricular