Homo sapiens Gene: GBE1 | |||||||||||||||||||
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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 |
glucan (1,4-alpha-), branching enzyme 1
glucan (1,4-alpha-), branching enzyme 1
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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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 3:81489699-81762161 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | p12.2 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Myoclonic epilepsy of Lafora pathway
Glycogen synthesis pathway
Metabolism of carbohydrates pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
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KEGG |
Starch and sucrose metabolism pathway
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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 | ||||||||||||||||||