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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
Corresponding disease
APBN adult polyglucosan body neuropathy
GSD4 glycogen storage disease, type IV
Location 3p12.2      Physical location : 81.538.849 - 81.810.950
Synonym symbol(s) GBE
EC.number 2.4.1.18
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
Physical map
LOC389131 3 LOC389131 LOC391549 3 similar to chromosome 11 open reading frame2; chromosome  11 open reading frame2 LOC391550 3 similar to seven transmembrane helix receptor LOC285296 3p14.1 similar to unc-93 homolog B1; unc93 (C.elegans) homolog B; unc-93 related protein LOC391551 3 similar to Putative eukaryotic translation initiation factor 3 subunit (eIF-3) LOC391552 3 similar to fetal hypothetical protein LOC285299 3p14.1 similar to FSHD Region Gene 2 protein LOC389132 3 similar to double homeobox protein LOC377064 3p14.1 kruppel-like zinc finger factor X17 LOC152059 3p14.1 similar to Adenylyl cyclase-associated protein 1 (CAP 1) ROBO2 3p12.3 roundabout, axon guidance receptor, homolog 2 (Drosophila) LOC391553 3 similar to Msx2-interacting protein (SMART/HDAC1 associated repressor protein) MRPS17P3 3p12.1 mitochondrial ribosomal protein S17 pseudogene 3 ROBO1 3p12 roundabout, axon guidance receptor, homolog 1 (Drosophila) LOC391554 3 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP) LOC391555 3 similar to hypothetical protein DKFZp434L0850 LOC389133 3 LOC389133 GBE1 3p12 glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) CYP51P1 3q12.1-q13.11 glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) LOC389135 3 similar to hypothetical protein FLJ11292 LOC253559 3p12.2 nectin-like protein 3 LOC51159 3p12.2 colon carcinoma related protein LOC389136 3 similar to vestigial-like 2 isoform 1; transcription cofactor vestigial-like 2 LOC285232 3p12.2 phosphoribosyl pyrophosphate amidotransferase pseudogene DKFZP564O123 3p12.1 DKFZP564O123 protein POU1F1 3p11 POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1) LOC285233 3p12.1 similar to keratin 8, type II cytoskeletal - human
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
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD4 , APBN
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS