GBE1

Description		1,4-alpha-glucan branching enzyme 1
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GO Annotations	Cellular Component	Cytoplasm Cytosol Extracellular Exosome
	Molecular Function	1,4-alpha-glucan Branching Enzyme Activity Hydrolase Activity, Hydrolyzing O-glycosyl Compounds Protein Binding Cation Binding 1,4-alpha-glucan Branching Enzyme Activity (using A Glucosylated Glycogenin As Primer For Glycogen Synthesis)
	Biological Process	Carbohydrate Metabolic Process Glycogen Metabolic Process Glycogen Biosynthetic Process Generation Of Precursor Metabolites And Energy
Pathways		Glycogen synthesis Glycogen storage disease type IV (GBE1)
Drugs
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		Body mass index ( 25673413) Cadmium levels ( 26025379) Chronotype ( 30696823) Extraversion ( 27918536) Hand grip strength ( 29691431) Intraocular pressure ( 31798171) Intraocular pressure and central corneal thickness (multi-trait analysis) ( 31798171) Iron status biomarkers (transferrin saturation) ( 28334935) Lead levels in blood ( 25820613) Loneliness ( 29970889) Loneliness (MTAG) ( 29970889) Photic sneeze reflex ( 30899065) Risk-taking tendency (4-domain principal component model) ( 30643258) Waist circumference ( 25673412)
Interacting Genes		6 interacting genes: EPHB3 PDE4DIP PGD PRMT6 RIPK3 TRDMT1
Entrez ID		2632
HPRD ID		01985
Ensembl ID		ENSG00000114480
Uniprot IDs		Q04446 Q59ET0
PDB IDs		4BZY 5CLT 5CLW
Enriched GO Terms of Interacting Partners?
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