InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GBE1

Summary

InnateDB Gene

IDBG-45617.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GBE1

Gene Name

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

Synonyms

APBD; GBE; GSD4

Species

Homo sapiens

Ensembl Gene

ENSG00000114480

Encoded Proteins

IDBP-381471

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

IDBP-478215

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:81489699-81762161

Strand

Reverse strand

Band

p12.2

Transcripts

ENST00000429644	ENSP00000410833
ENST00000489715	ENSP00000419638
ENST00000484687
ENST00000498468
ENST00000486920
ENST00000477426

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	10 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0003844	1,4-alpha-glucan branching enzyme activity
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0043169	cation binding

Biological Process

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:0044281	small molecule metabolic process

Cellular Component

GO:0005829	cytosol
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000022707

View Gene Order

ENSBTAG00000036262

Not yet available

Pathways

NETPATH

REACTOME

REACT_200783

Myoclonic epilepsy of Lafora pathway

REACT_169208

Glycogen synthesis pathway

REACT_474

Metabolism of carbohydrates pathway

REACT_111217

Metabolism pathway

REACT_116125

Disease pathway

REACT_723

Glucose metabolism pathway

REACT_200833

Glycogen storage diseases pathway

KEGG

hsa00500

Starch and sucrose metabolism pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

E9PGM4

UniProt Splice Variant

Entrez Gene

2632

UniGene

Hs.436062 Hs.631098

RefSeq

NM_000158

HUGO

HGNC:4180

OMIM

607839

CCDS

CCDS54612

HPRD

01985

IMGT

EMBL

AC017015 AC025029 AC099049

GenPept

RNA Seq Atlas

2632