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amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

Summary

Gene Symbol

AGL

Aliases

GDE
glycogen debranching enzyme
glycogen storage disease type III

Organism

Homo sapiens (human)

External Links

NCBI Gene

178

HGNC

321

KEGG Gene ID

hsa:178

PubChem

178

Alliance of Genome Resources

HGNC:321

Annotation

Keyword

Alternative splicing
Cytoplasm
Direct protein sequencing
Disease variant
Glycogen biosynthesis
Glycogen storage disease
Glycosidase
Glycosyltransferase
Multifunctional enzyme
Phosphoprotein
Reference proteome
Ubl conjugation

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A0S2A4E4	Glycogen debrancher
P35573	Glycogen debrancher

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
glycogen catabolic process	IBA TAS
response to glucocorticoid	IEA
response to nutrient	IEA
glycogen biosynthetic process	IEA

GO Hierarchy

biological process

metabolic process [inference]

catabolic process [inference]

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

carbohydrate catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

cellular metabolic process [inference]

generation of precursor metabolites and energy [inference]

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process [inference]

glycogen metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

primary metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

glucan metabolic process [inference]

glycogen metabolic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

glucan catabolic process [inference]

glycogen catabolic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

glucan metabolic process [inference]

glycogen metabolic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

glucan catabolic process [inference]

glycogen catabolic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

macromolecule metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

glucan metabolic process [inference]

glycogen metabolic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

glucan catabolic process [inference]

glycogen catabolic process

macromolecule catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

carbohydrate catabolic process [inference]

polysaccharide catabolic process [inference]

glucan catabolic process [inference]

glycogen catabolic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

generation of precursor metabolites and energy [inference]

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process [inference]

glycogen metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

response to stimulus [inference]

response to external stimulus [inference]

response to extracellular stimulus [inference]

response to nutrient levels [inference]

response to nutrient

response to endogenous stimulus [inference]

response to hormone [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid

response to chemical [inference]

response to nutrient

response to organic substance [inference]

response to hormone [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid

response to organic cyclic compound [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid

response to lipid [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid

Displaying entries **6 - 9** of 9 in total

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GO Term	Evidence Code	PMID
isoamylase complex	TAS	1374391
secretory granule lumen	TAS
sarcoplasmic reticulum	IEA
ficolin-1-rich granule lumen	TAS

GO Hierarchy

cellular component

protein-containing complex [inference]

catalytic complex [inference]

isoamylase complex

cellular anatomical entity [inference]

extracellular region

intracellular anatomical structure [inference]

inclusion body

membrane-enclosed lumen [inference]

organelle lumen [inference]

vesicle lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen

intracellular organelle lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen

ficolin-1-rich granule lumen

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

endoplasmic reticulum [inference]

sarcoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

endoplasmic reticulum [inference]

sarcoplasmic reticulum

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
4-alpha-glucanotransferase activity	EXP IBA	2961257
beta-maltose 4-alpha-glucanotransferase activity	IEA
glycogen debranching enzyme activity	IEA
protein binding	IPI	17908927 24837458
amylo-alpha-1,6-glucosidase activity	EXP IBA	2961257

GO Hierarchy

molecular function

catalytic activity [inference]

glycogen debranching enzyme activity

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds [inference]

glucosidase activity [inference]

alpha-glucosidase activity [inference]

amylo-alpha-1,6-glucosidase activity

binding [inference]

protein binding

modification-dependent protein binding [inference]

polyubiquitin modification-dependent protein binding

carbohydrate binding [inference]

polysaccharide binding

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K01196

Name

glycogen debranching enzyme [EC:2.4.1.25 3.2.1.33]

References

Disease

Disease Ontology

Displaying entries **71 - 80** of 91 in total

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DO ID	Disease Name	Source
DOID:235	colonic benign neoplasm	DisGeNET
DOID:2747	glycogen storage disease	DisGeNET
DOID:2748	glycogen storage disease III	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2749	glycogen storage disease Ia	DisGeNET
DOID:2752	glycogen storage disease II	DisGeNET
DOID:2862	glucosephosphate dehydrogenase deficiency	DisGeNET
DOID:3908	lung non-small cell carcinoma	DisGeNET
DOID:4007	bladder carcinoma	DisGeNET DisGeNET
DOID:423	myopathy	DisGeNET
DOID:4480	achondroplasia	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 24 in total

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HPO ID	HPO Term
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

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:232400	glycogen storage disease III
ORPHA:366	glycogen storage disease III

PubChem Disease

GHR Health Conditions

Glycogen storage disease type III

MedGen Diseases

Glycogen storage disease type III

OMIM Phenotypes

GLYCOGEN STORAGE DISEASE III; GSD3

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **21 - 30** of **103** in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus laevis	108715682	Xenbase:XB-GENE-17346695
Xenopus tropicalis	780065	Xenbase:XB-GENE-1001429
Chrysemys picta bellii	101952161		CHRPI14064
Crocodylus porosus	109306970		CROPO13740
Pseudonaja textilis	113436114		PSETE07265
Serinus canaria	103814871		SERCA08186
Ornithorhynchus anatinus	100081547		ORNAN20134
Callithrix jacchus	100393172		CALJA41536
Macaca fascicularis	102141897		MACFA21808
Macaca mulatta	710910		MACMU24389

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024