Entity Details

Primary name GLGB_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ04446
EntryNameGLGB_HUMAN
FullName1,4-alpha-glucan-branching enzyme
TaxID9606
Evidenceevidence at protein level
Length702
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesGBE1

GO terms

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GOName
GO:0003844 1,4-alpha-glucan branching enzyme activity
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0005978 glycogen biosynthetic process
GO:0006091 generation of precursor metabolites and energy
GO:0030246 carbohydrate binding
GO:0043169 cation binding
GO:0043524 negative regulation of neuron apoptotic process
GO:0070062 extracellular exosome
GO:0102752 1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis)

Subcellular Location

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Domains

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DomainNameCategoryType
IPR004193 Glycoside hydrolase, family 13, N-terminalDomainDomain
IPR006047 Glycosyl hydrolase, family 13, catalytic domainDomainDomain
IPR006048 Alpha-amylase/branching enzyme, C-terminal all betaDomainDomain
IPR013780 Glycosyl hydrolase, all-betaFamilyHomologous superfamily
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR014756 Immunoglobulin E-setFamilyHomologous superfamily
IPR017853 Glycoside hydrolase superfamilyFamilyHomologous superfamily
IPR037439 1,4-alpha-glucan-branching enzymeFamilyFamily

Diseases

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Disease IDSourceNameDescription
263570 OMIMPolyglucosan body neuropathy, adult form (APBN)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 APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. The disease is caused by variants affecting the gene represented in this entry.
232500 OMIMGlycogen storage disease 4 (GSD4)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions