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GBE1

GENERAL INFORMATION

Gene name

 GBE1

Gene description

 Glucan (1,4-alpha-), branching enzyme 1

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA038073 , HPA038074 , HPA038075
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 GBE1

Synonyms

Description

 Glucan (1,4-alpha-), branching enzyme 1 (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]

Chromosome

 3

Cytoband

 p12.2

Chromosome location (bp)

 81489699 - 81762161

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000114480 (version 83.38)

Entrez gene

 2632

UniProt

 Q04446 (UniProt - Evidence at protein level)

neXtProt

 NX_Q04446

Antibodypedia

 GBE1 antibodies

PROTEIN BROWSER
GBE1-001
GBE1-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GBE1-001
ENSP00000410833
ENST00000429644
Q04446 [Direct mapping]
1,4-alpha-glucan-branching enzyme
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Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0003844 [1,4-alpha-glucan branching enzyme activity]
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005829 [cytosol]
GO:0005975 [carbohydrate metabolic process]
GO:0005977 [glycogen metabolic process]
GO:0005978 [glycogen biosynthetic process]
GO:0006006 [glucose metabolic process]
GO:0006091 [generation of precursor metabolites and energy]
GO:0043169 [cation binding]
GO:0044281 [small molecule metabolic process]
GO:0070062 [extracellular exosome]
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 702 aa
80.5 kDa 		No 0
GBE1-002
ENSP00000419638
ENST00000489715
E9PGM4 [Direct mapping]
1,4-alpha-glucan-branching enzyme
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0003844 [1,4-alpha-glucan branching enzyme activity]
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
GO:0005978 [glycogen biosynthetic process]
GO:0043169 [cation binding]
Show all
 661 aa
76 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.