GBE1

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 VIEW

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GBE1-001
 
GBE1-002
 
 
 
 
 

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
Show all »
Show » Show » 661 76 No 0