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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 **51 - 60** of 90 in total

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DO ID	Disease Name	Source
DOID:2536	chronic inflammatory demyelinating polyneuritis	DisGeNET
DOID:2747	glycogen storage disease	DisGeNET
DOID:2748	glycogen storage disease III	DisGeNET
DOID:2749	glycogen storage disease Ia	DisGeNET
DOID:2750	glycogen storage disease IV	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2752	glycogen storage disease II	DisGeNET DisGeNET
DOID:2754	glycogen storage disease VI	DisGeNET
DOID:2862	glucosephosphate dehydrogenase deficiency	DisGeNET
DOID:2957	pulmonary tuberculosis	Alliance of Genome Resources
DOID:3191	nemaline myopathy	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 **21 - 30** of 86 in total

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Species	Gene ID	Orthologous MAtrix
Pseudonaja textilis	113436320	PSETE07437
Serinus canaria	103818412	SERCA13811
Ornithorhynchus anatinus	100081100	ORNAN09110
Callithrix jacchus	100389628	CALJA22092
Cercocebus atys	105593841	CERAT33234
Macaca fascicularis	101865907	MACFA28217
Macaca mulatta	722884	MACMU30107
Macaca nemestrina	105485529	MACNE29862
Papio anubis	101025918	PAPAN24050
Gorilla gorilla gorilla	101134083	GORGO29248

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements