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1,4-alpha-glucan branching enzyme 1

Summary

Gene Symbol

GBE1

Aliases

Andersen disease
glycogen branching enzyme
glycogen storage disease type IV

Organism

Homo sapiens (human)

External Links

NCBI Gene

2632

HGNC

4180

KEGG Gene ID

hsa:2632

PubChem

2632

Alliance of Genome Resources

HGNC:4180

Annotation

Keyword

3D-structure
Acetylation
Disease variant
Glycogen biosynthesis
Glycogen storage disease
Glycosyltransferase
Neuropathy
Phosphoprotein
Reference proteome

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q59ET0
Q04446	Brancher enzyme Glycogen-branching enzyme

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
glycogen metabolic process	TAS	8613547
negative regulation of neuron apoptotic process	IEA
generation of precursor metabolites and energy	TAS	8613547
starch metabolic process
glycogen biosynthetic process	IBA IDA IEA TAS	26199317

GO Hierarchy

biological process

metabolic process [inference]

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

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process [inference]

glycogen metabolic process

glycogen biosynthetic process

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

glucan metabolic process [inference]

glycogen metabolic process

glycogen biosynthetic process

starch metabolic process

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic 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

glucan metabolic process [inference]

glycogen metabolic process

glycogen biosynthetic process

starch metabolic process

glucan biosynthetic process [inference]

glycogen biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

macromolecule metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

glucan metabolic process [inference]

glycogen metabolic process

glycogen biosynthetic process

starch metabolic process

glucan biosynthetic process [inference]

glycogen biosynthetic process

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 process [inference]

cellular metabolic process [inference]

generation of precursor metabolites and energy

energy derivation by oxidation of organic compounds [inference]

energy reserve metabolic process [inference]

glycogen metabolic process

glycogen biosynthetic process

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

glucan biosynthetic process [inference]

glycogen biosynthetic process

biological regulation [inference]

regulation of biological process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of neuron apoptotic process

regulation of cellular process [inference]

regulation of programmed cell death [inference]

regulation of apoptotic process [inference]

negative regulation of apoptotic process [inference]

negative regulation of neuron apoptotic process

regulation of neuron apoptotic process [inference]

negative regulation of neuron apoptotic process

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of neuron apoptotic process

negative regulation of cellular process [inference]

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of neuron apoptotic process

Displaying **all 3** entries
GO Term	Evidence Code	PMID
cytosol	TAS
cytoplasm	IBA
extracellular exosome	HDA	19056867 23533145

GO Hierarchy

cellular component

cellular anatomical entity [inference]

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
cation binding	IEA
1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis)	IEA
carbohydrate binding	IEA
1,4-alpha-glucan branching enzyme activity	EXP IBA IDA TAS	26199317 8613547
protein binding	IPI	24837458 36217029

GO Hierarchy

molecular function

catalytic activity [inference]

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

binding [inference]

ion binding [inference]

cation binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000114480

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00700

Name

1,4-alpha-glucan branching enzyme [EC:2.4.1.18]

References

Disease

Disease Ontology

Displaying entries **1 - 10** of 90 in total

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DO ID	Disease Name	Source
DOID:0014667	disease of metabolism	DisGeNET
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	DisGeNET
DOID:0050700	cardiomyopathy	DisGeNET
DOID:0060235	carnitine palmitoyltransferase II deficiency	DisGeNET
DOID:0060250	idiopathic scoliosis	DisGeNET
DOID:0060262	gallbladder disease	DisGeNET
DOID:0060357	chylomicron retention disease	DisGeNET
DOID:0060578	Noonan syndrome 1	DisGeNET
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome	DisGeNET DisGeNET
DOID:0110425	dilated cardiomyopathy 1A	DisGeNET

The Human Phenotype Ontology

Displaying entries **41 - 50** of 53 in total

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HPO ID	HPO Term
HP:0003202	Skeletal muscle atrophy
HP:0003394	Muscle spasm
HP:0003401	Paresthesia
HP:0003438	Absent Achilles reflex
HP:0003457	EMG abnormality
HP:0003477	Peripheral axonal neuropathy
HP:0003596	Middle age onset
HP:0003677	Slowly progressive
HP:0005576	Tubulointerstitial fibrosis
HP:0007256	Abnormal pyramidal sign

Displaying **all 3** entries
Disease ID	Disease Name
ORPHA:206583	adult polyglucosan body disease
OMIM:263570	adult polyglucosan body disease
OMIM:232500	glycogen storage disease due to glycogen branching enzyme deficiency

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **41 - 50** of 86 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Loxodonta africana	100660676		LOXAF14573
Equus caballus	100034152		HORSE24932
Sus scrofa	100156209		PIGXX05927
Bos taurus	615745		BOVIN14320
Capra hircus	102186052		CAPHI11676
Ovis aries	101120124		SHEEP01265
Oryctolagus cuniculus	100342646		RABIT04926
Dipodomys ordii	105991517		DIPOR10994
Mus musculus	74185	MGI:1921435
Rattus norvegicus	288333	RGD:1309968

GlyTouCan

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GlycoPOST

UniCarb-DR

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Other Information

Tools

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Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements