MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.4.1.25	Transferases; Glycosyltransferases; Hexosyltransferases; 4-α-glucanotransferase
3.2.1.33	Hydrolases; Glycosylases; Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds; amylo-α-1,6-glucosidase

GO ontology	GO term	GO description
Biological Process	GO:0005978	glycogen biosynthetic process
Biological Process	GO:0005980	glycogen catabolic process
Biological Process	GO:0051384	response to glucocorticoid
Biological Process	GO:0007584	response to nutrient
Molecular Function	GO:0004134	4-alpha-glucanotransferase activity
Molecular Function	GO:0004135	amylo-alpha-1,6-glucosidase activity
Molecular Function	GO:0102500	beta-maltose 4-alpha-glucanotransferase activity
Molecular Function	GO:0004133	glycogen debranching enzyme activity
Molecular Function	GO:0030247	polysaccharide binding
Molecular Function	GO:0031593	polyubiquitin modification-dependent protein binding
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005576	extracellular region
Cellular Component	GO:1904813	ficolin-1-rich granule lumen
Cellular Component	GO:0016234	inclusion body
Cellular Component	GO:0043033	isoamylase complex
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0016529	sarcoplasmic reticulum
Cellular Component	GO:0034774	secretory granule lumen

InterPro	InterPro name
IPR006421	Glycogen debranching enzyme, metazoa
IPR008928	Six-hairpin glycosidase superfamily
IPR010401	Glycogen debranching enzyme
IPR017853	Glycoside hydrolase superfamily
IPR029436	Eukaryotic glycogen debranching enzyme, N-terminal domain
IPR032788	Glycogen debranching enzyme, central domain
IPR032790	Glycogen debranching enzyme, C-terminal
IPR032792	Glycogen debranching enzyme, glucanotransferase domain

Pfam	Pfam name
PF06202	Amylo-alpha-1,6-glucosidase
PF14699	N-terminal domain from the human glycogen debranching enzyme
PF14701	Glycogen debranching enzyme, glucanotransferase domain
PF14702	Central domain of human glycogen debranching enzyme

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-6798695	Neutrophil degranulation	Leaf	R-HSA-168256	Immune System
R-HSA-70221	Glycogen breakdown (glycogenolysis)	Leaf	R-HSA-1430728	Metabolism

Location	ECO term	Pubmed
Cytoplasm	ECO:0000269	PubMed:17908927

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000219	Thin upper lip vermilion
HP:0000233	Thin vermilion border
HP:0000272	Malar flattening
HP:0000293	Full cheeks
HP:0000455	Broad nasal tip
HP:0000490	Deeply set eye
HP:0001256	Intellectual disability, mild
HP:0001324	Muscle weakness
HP:0001395	Hepatic fibrosis
HP:0001638	Cardiomyopathy
HP:0001714	Ventricular hypertrophy
HP:0001943	Hypoglycemia
HP:0002155	Hypertriglyceridemia
HP:0002240	Hepatomegaly
HP:0002721	Immunodeficiency
HP:0002910	Elevated hepatic transaminase
HP:0003077	Hyperlipidemia
HP:0003198	Myopathy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003693	Distal amyotrophy
HP:0004322	Short stature
HP:0005280	Depressed nasal bridge
HP:0011800	Midface retrusion

Tissue	Cell type	Expression level	Reliability
bronchus	respiratory epithelial cells	Low	Approved
cervix	squamous epithelial cells	Medium	Approved
esophagus	squamous epithelial cells	Medium	Approved
liver	hepatocytes	Medium	Approved
nasopharynx	respiratory epithelial cells	Medium	Approved
placenta	trophoblastic cells	Medium	Approved
skeletal muscle	myocytes	Medium	Approved
skin 2	epidermal cells	Medium	Approved
stomach 1	glandular cells	Low	Approved
stomach 2	glandular cells	Low	Approved
testis	Leydig cells	Medium	Approved
urinary bladder	urothelial cells	Low	Approved
vagina	squamous epithelial cells	Medium	Approved