GBE1

Description		1,4-alpha-glucan branching enzyme 1
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GO Annotations	Cellular Component	Cytoplasm Cytosol Extracellular Exosome
	Molecular Function	Catalytic Activity 1,4-alpha-glucan Branching Enzyme Activity Hydrolase Activity, Hydrolyzing O-glycosyl Compounds Protein Binding Transferase Activity Glycosyltransferase Activity Carbohydrate Binding Cation Binding
	Biological Process	Carbohydrate Metabolic Process Glycogen Metabolic Process Glycogen Biosynthetic Process Generation Of Precursor Metabolites And Energy Negative Regulation Of Neuron Apoptotic Process
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		Adult body size ( 32376654) Body mass index ( 25673413) Cadmium levels ( 26025379) Chronotype ( 30696823) Daytime nap ( 33568662) Extraversion ( 27918536) Femur bone mineral density x serum urate levels interaction ( 34046847) Hand grip strength ( 29691431) Intraocular pressure ( 31798171) Intraocular pressure and central corneal thickness (multi-trait analysis) ( 31798171) Lead levels in blood ( 25820613) Loneliness ( 29970889) Loneliness (MTAG) ( 29970889) Meat-related diet ( 32066663) Photic sneeze reflex ( 30899065) Processed meat consumption ( 32066663) Risk-taking tendency (4-domain principal component model) ( 30643258) Waist circumference ( 25673412)
Novel Interacting Genes		1 novel interacting genes: PDE4DIP
Interacting Genes		8 interacting genes: CEBPA EPHB3 KLHL20 PGD PRMT6 RIPK3 TRDMT1 UBC
Entrez ID		2632
HPRD ID		01985
Ensembl ID		ENSG00000114480
Uniprot IDs		Q04446 Q59ET0
PDB IDs		4BZY 5CLT 5CLW
Enriched GO Terms of Interacting Partners?		Gland Development RNA Polymerase I Transcription Regulatory Region Sequence-specific DNA Binding Response To Vitamin B2 C/EBP Complex Hematopoietic Or Lymphoid Organ Development Thymus Development Pentose Biosynthetic Process D-gluconate Metabolic Process Phosphogluconate Dehydrogenase (decarboxylating) Activity Cortical Microtubule Plus-end Regulation Of CD8-positive, Alpha-beta Cytotoxic T Cell Extravasation Protein K33-linked Ubiquitination Type II Interferon Binding Histone H3R2 Methyltransferase Activity Histone H2AR3 Methyltransferase Activity CHOP-C/EBP Complex TRNA (cytidine-5-)-methyltransferase Activity Execution Phase Of Necroptosis Histone Arginine N-methyltransferase Activity
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