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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]
GBE1 (1,4-Alpha-Glucan Branching Enzyme 1) is a Protein Coding gene. Diseases associated with GBE1 include Glycogen Storage Disease Iv and Polyglucosan Body Neuropathy, Adult Form. Among its related pathways are Galactose metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and 1,4-alpha-glucan branching enzyme activity. An important paralog of this gene is SLC3A2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0003844 | 1,4-alpha-glucan branching enzyme activity | IEA,IDA | 26199317 |
GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds | IEA | -- |
GO:0005515 | protein binding | IPI | 24837458 |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism | ||
2 | Metabolism |
.40
|
|
3 | Galactose metabolism |
Glycogen metabolism
.01
|
|
4 | Glycosaminoglycan metabolism | ||
5 | Glycogen Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA,IBA | 21873635 |
GO:0005977 | glycogen metabolic process | TAS | 8613547 |
GO:0005978 | glycogen biosynthetic process | IEA,TAS | -- |
GO:0006091 | generation of precursor metabolites and energy | TAS | 8613547 |
GO:0043524 | negative regulation of neuron apoptotic process | IEA | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GBE1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GBE1 31 |
|
OneToOne | |
LOC478380 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | GBE1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gbe1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gbe1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | GBE1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GBE1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GBE1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GBE1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gbe1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | GBE1 (2 of 2) 31 |
|
OneToMany | |
LOC559212 30 |
|
||||
GBE1 (1 of 2) 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010428 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG33138 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | CELE_T04A8.7 30 |
|
||
T04A8.7 31 |
|
OneToOne | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GLC3 30 31 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A11176g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL044W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SBE2.1 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.2119 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0528200 30 |
|
||
Os.22169 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.7919 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.39 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.226 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU05429 30 |
|
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
774170 | Benign: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 81,594,016(-) |
T/. NM_000158.4(GBE1):c.1000= (p.Ile334=) |
NO_SEQUENCE_ALTERATION | |
834756 | Pathogenic: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 81,581,225(-) |
G/C NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter) |
NONSENSE | |
836518 | Pathogenic: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 81,586,127(-) |
G/A NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) |
NONSENSE | |
843493 | Likely Pathogenic: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 81,642,817(-) |
T/C NM_000158.4(GBE1):c.956A>G (p.His319Arg) |
MISSENSE | |
848865 | Likely Pathogenic: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 81,537,093(-) |
T/C NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1386e212 | CNV | loss | 25503493 |
dgv1387e212 | CNV | loss | 25503493 |
dgv2552n106 | CNV | deletion | 24896259 |
dgv8401n54 | CNV | loss | 21841781 |
dgv8402n54 | CNV | loss | 21841781 |
dgv8403n54 | CNV | loss | 21841781 |
esv1005110 | CNV | loss | 20482838 |
esv1008470 | CNV | deletion | 20482838 |
esv1726256 | CNV | deletion | 17803354 |
esv23507 | CNV | loss | 19812545 |
esv2659520 | CNV | deletion | 23128226 |
esv2668691 | CNV | deletion | 23128226 |
esv2672095 | CNV | deletion | 23128226 |
esv2675026 | CNV | deletion | 23128226 |
esv2725581 | CNV | deletion | 23290073 |
esv2835791 | CNV | deletion | 24192839 |
esv3326 | CNV | loss | 18987735 |
esv3562135 | CNV | deletion | 23714750 |
esv3596748 | CNV | loss | 21293372 |
esv3596749 | CNV | loss | 21293372 |
esv3596750 | CNV | loss | 21293372 |
esv3596751 | CNV | loss | 21293372 |
esv3596753 | CNV | loss | 21293372 |
esv3893729 | CNV | loss | 25118596 |
esv995823 | CNV | deletion | 20482838 |
nsv478164 | CNV | novel sequence insertion | 20440878 |
nsv834749 | CNV | gain | 17160897 |
nsv967032 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycogen storage disease iv |
|
|
polyglucosan body neuropathy, adult form |
|
|
glycogen storage disease due to glycogen branching enzyme deficiency |
|
|
glycogen storage disease |
|
|
myoclonic epilepsy of lafora |
|
|