InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GBE1

Summary

InnateDB Protein

IDBP-381471.4

Last Modified

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

Gene Symbol

GBE1

Protein Name

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

Synonyms

APBD; GBE; GSD4;

Species

Homo sapiens

Ensembl Protein

ENSP00000410833

InnateDB Gene

IDBG-45617 (GBE1)

Protein Structure

UniProt Annotation

Function

Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells.

Subcellular Localization

Disease Associations

Glycogen storage disease 4 (GSD4) [MIM:232500]: A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. {ECO:0000269PubMed:10545044, ECO:0000269PubMed:15452297, ECO:0000269PubMed:8613547}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.Adult polyglucosan body disease (APBD) [MIM:263570]: A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBD is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. {ECO:0000269PubMed:10762170}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highest levels found in liver and muscle.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR004193 Glycoside hydrolase, family 13, N-terminal
IPR006047 Glycosyl hydrolase, family 13, catalytic domain
IPR006048 Alpha-amylase, C-terminal all beta
IPR006589 Glycosyl hydrolase, family 13, subfamily, catalytic domain
IPR014756 Immunoglobulin E-set
IPR017853 Glycoside hydrolase, superfamily

PFAM

PF02922
PF00128
PF02806

PRINTS

PIRSF

SMART

SM00632
SM00642

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q04446