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FLASH GENE
Symbol GBE1 contributors: mct - updated : 03-02-2017
HGNC name glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
HGNC id 4180
DNA
TYPE functioning gene
STRUCTURE 272.10 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 3118 - 702 - 1993 8463281
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 liver   highly
 mouthtongue  highly
Endocrineadrenal gland   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer monomer
HOMOLOGY
Homologene
FAMILY glycosyl hydrolase 13 family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,nucleus
basic FUNCTION
  • amylo (1,4->1,6) trans-glucosidase, branching enzyme, functioning in glycogen symthesis by catalyzing the formation of alpha 1,6- glucosidic linkages
  • playing an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells
  • plays an essential role in glycogen biosynthesis by generating &
  • 945;-1,6-glucosidic branches from &
    945;-1,4-linked glucose chains, to increase solubility of the glycogen polymer
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NFE2L2 induction in skeletal muscle (SkM) increases GBE1 and PHKA1 expression and reduces muscle glycogen content, resulting in improved glucose tolerance
  • cell & other
    REGULATION
    activated by thyroid hormones
    hypoxia that upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1), two enzymes involved in the biosynthesis of glycogen
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD4 , APBN
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS