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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 entry **6 - 6** of 6 in total

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GO Term	Evidence Code	PMID
hydrolase activity, hydrolyzing O-glycosyl compounds	IEA

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 **11 - 20** of 90 in total

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DO ID	Disease Name	Source
DOID:0110632	megaconial type congenital muscular dystrophy	DisGeNET
DOID:0110633	rigid spine muscular dystrophy 1	DisGeNET
DOID:0110634	congenital muscular dystrophy 1B	DisGeNET
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5	DisGeNET
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A	DisGeNET
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6	DisGeNET
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency	DisGeNET
DOID:0110640	congenital muscular dystrophy due to LMNA mutation	DisGeNET
DOID:0111040	glycogen storage disease IXd	DisGeNET
DOID:0111041	glycogen storage disease IXb	DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 20** of 53 in total

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HPO ID	HPO Term
HP:0001258	Spastic paraplegia
HP:0001265	Hyporeflexia
HP:0001269	Hemiparesis
HP:0001278	Orthostatic hypotension
HP:0001288	Gait disturbance
HP:0001315	Reduced tendon reflexes
HP:0001324	Muscle weakness
HP:0001371	Flexion contracture
HP:0001376	Limitation of joint mobility
HP:0001394	Cirrhosis

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 **1 - 10** of 86 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	3565201	WB:WBGene00011409
Drosophila melanogaster	326264	FB:FBgn0053138
Callorhinchus milii	103185183		CALMI31604
Latimeria chalumnae	102347807		LATCH12104
Danio rerio	559212	ZFIN:ZDB-GENE-110914-16	DANRE09156
Danio rerio	100333665	ZFIN:ZDB-GENE-110411-171
Astyanax mexicanus	103031248		ASTMX02238
Ictalurus punctatus	108277888		ICTPU10145
Electrophorus electricus	113578631		ELEEL22430
Esox lucius	105006368		ESOLU00668

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements