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FLASH GENE
Symbol AGL contributors: mct/npt - updated : 18/09/2008
HGNC name amylo-1, 6-glucosidase, 4-alpha-glucanotransferase
HGNC id 321
Corresponding disease
GSD3 glycogen storage disease : type IIIa : hepatomuscular, type IIIb : liver
Location 1p21      Physical location : 100.315.639 - 100.389.579
Synonym name
  • glycogen debranching enzyme
  • amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III)
  • glycogen debrancher
  • Synonym symbol(s) GDE
    EC.number 2.4.1.25, 3.2.1.33
    DNA
    TYPE functioning gene
    STRUCTURE 73.90 kb     39 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    PTBP2 1p22.11-p21.3 polypyrimidine tract binding protein 2 DPYD 1p22 dihydropyrimidine dehydrogenase SNX7 1p21.2 sorting nexin 7 LOC388653 1 LOC388653 LOC391058 1 similar to 60S ribosomal protein L5 PRG1 10q22.1 proteoglycan 1, secretory granule PALMD 1p22-p21 palmdelphin LOC391059 1 similar to Stromal cell derived factor receptor 2 AGL 1p21 amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) SLC35A3 1p21 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 HIAT1 1p21.3 hippocampus abundant transcript 1 DKFZp761A078 1p21.3 hypothetical protein DKFZp761A078 FLJ10287 1pter-q31.3 hypothetical protein FLJ10287 MGC14816 1p21.3 hypothetical protein MGC14816 DBT 1p31 dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) RTCD1 1p21.1 RTC domain containing 1 CDC14A 1p22 CDC14 cell division cycle 14 homolog A (S. cerevisiae) GPR88 1p21.3 G-protein coupled receptor 88 LOC391060 1 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) LOC391061 1 similar to large subunit ribosomal protein L36a VCAM1 1p21 vascular cell adhesion molecule 1 EXTL2 1p12-p11 exostoses (multiple)-like 2 SLC30A7 1p21.2 solute carrier family 30 (zinc transporter), member 7 CGI-30 1p21.2 CGI-30 protein FLJ20139 1p21.2 hypothetical protein FLJ20139 EDG1 1p21 endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 LOC391062 1 similar to peptidylprolyl isomerase A (cyclophilin A) LOC388654 1 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) OLFM3 1p22-p21 olfactomedin 3 HEJ1 1p22 olfactomedin 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    34 splicing initiation site 7371 174.6 1532 - Bao
  • differing in the 5' UTR compared to variant 4
  • variants 1, 2, 3 and 4 encode the same protein
  • 34 splicing initiation site 7109 174.6 1532 muscle specific Bao
  • differing in the 5' UTR compared to variant 4
  • variants 1, 2, 3 and 4 encode the same protein
  • 34 splicing initiation site 7169 174.6 1532 muscle specific Bao
  • differing in the 5' UTR, compared to variant 4
  • variants 1, 2, 3 and 4 encode the same protein
  • 34 splicing initiation site 7449 174.6 1532 muscle specific Bao
  • variants 1, 2, 3 and 4 encode the same protein
  • 32 splicing 7182 172.5 1515 muscle Bao
  • differing in the 5' UTR and coding region compared to variant 4
  • 34 splicing 7182 172.6 1516 liver, muscle Bao
  • differing in the 5' UTR and coding region compared to variant 4
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Nervousbrain    
     spinal cord   highly
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervouscentral   
    cell lineage lymphoblastoid cells
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • alpha amylase catalytic domain
  • CBD (arbohydrate-binding domain) playing a major role to coordinate its functions and regulation by the ubiquitin–proteasome system (Cheng 2009)
  • C-terminal region binding to glycogen
  • two separate domains for the transferase and glucosidase activities
  • mono polymer monomer
    HOMOLOGY
    interspecies homolog to dog AGL (93.8 pc)
    homolog to rattus Agl (92.2 pc)
    homolog to murine Agl (91.8 pc)
    homolog to chicken AGL (81.7 pc)
    Homologene
    FAMILY
  • multifunctional enzyme
  • glycogen debranching enzyme family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • acting as an amylo-1,6-glucosidase (4-alpha-glucantransferase) implicated in glycogen catabolism
  • acting as a 1,4-alpha-D-glucan : 1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
  • glycogen catabolism
  • glycogen biosynthesis
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding AMPK beta1-subunit (in mouse)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS