Glycogen debranching enzyme

AGL
Identifiers
Aliases	AGL, GDE, amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
External IDs	OMIM: 610860; MGI: 1924809; HomoloGene: 536; GeneCards: AGL; OMA:AGL - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p21.2 Start 99,850,361 bp[1] End 99,924,023 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 G1 Start 116,533,648 bp[2] End 116,601,815 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vastus lateralis muscle biceps brachii Skeletal muscle tissue of rectus abdominis Skeletal muscle tissue of biceps brachii thoracic diaphragm body of tongue triceps brachii muscle deltoid muscle glutes tibialis anterior muscle Top expressed in muscle of thigh triceps brachii muscle vastus lateralis muscle sternocleidomastoid muscle temporal muscle gastrocnemius muscle medial head of gastrocnemius muscle digastric muscle intercostal muscle tibialis anterior muscle More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity glycosyltransferase activity hydrolase activity, acting on glycosyl bonds protein binding catalytic activity hydrolase activity 4-alpha-glucanotransferase activity amylo-alpha-1,6-glucosidase activity glycogen debranching enzyme activity carbohydrate binding polysaccharide binding polyubiquitin modification-dependent protein binding beta-maltose 4-alpha-glucanotransferase activity Cellular component cytoplasm cytosol isoamylase complex extracellular region secretory granule lumen ficolin-1-rich granule lumen nucleus inclusion body sarcoplasmic reticulum Biological process glycogen biosynthetic process glycogen catabolic process metabolism neutrophil degranulation glycogen metabolic process response to nutrient response to hormone response to glucocorticoid Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 178 77559 Ensembl ENSG00000162688 ENSMUSG00000033400 UniProt P35573 n/a RefSeq (mRNA) NM_000028 NM_000642 NM_000643 NM_000644 NM_000645 NM_000646 NM_001081326 NM_001362367 RefSeq (protein) NP_000019 NP_000633 NP_000634 NP_000635 NP_000637 n/a Location (UCSC) Chr 1: 99.85 – 99.92 Mb Chr 3: 116.53 – 116.6 Mb PubMed search [3] [4]
Wikidata
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The glycogen debranching enzyme, in humans, is the protein encoded by the gene AGL.^[5] This enzyme is essential for the breakdown of glycogen, which serves as a store of glucose in the body. It has separate glucosyltransferase and glucosidase activities.^[6][7]

Together with phosphorylases, the enzyme mobilize glucose reserves from glycogen deposits in the muscles and liver. This constitutes a major source of energy reserves in most organisms. Glycogen breakdown is highly regulated in the body, especially in the liver, by various hormones including insulin and glucagon, to maintain a homeostatic balance of blood-glucose levels.^[8] When glycogen breakdown is compromised by mutations in the glycogen debranching enzyme, metabolic diseases such as Glycogen storage disease type III can result.^[6][7]

The two steps of glycogen breakdown, glucosyltransferase and glucosidase, are performed by a single enzyme in mammals, yeast, and some bacteria, but by two distinct enzymes in E. coli and other bacteria, complicating nomenclature. Proteins that catalyze both functions are referred to as glycogen debranching enzymes (GDEs). When glucosyltransferase and glucosidase are catalyzed by distinct enzymes, glycogen debranching enzyme usually refers to the glucosidase enzyme. In some literature, an enzyme capable only of glucosidase is referred to as a debranching enzyme.^[9]