GBE1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA038073 , HPA038074 , HPA038075
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

2632

UniProt

Q04446 (UniProt - Evidence at protein level)

neXtProt

NX_Q04446

Antibodypedia

GBE1 antibodies


PROTEIN BROWSER

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ENST00000429644
 
ENST00000489715
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GBE1-001 ENSP00000410833
ENST00000429644
Q04446
Show all »
Show » Show » 702 80.5 No 0
GBE1-002 ENSP00000419638
ENST00000489715
E9PGM4
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Show » Show » 661 76 No 0