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FLASH GENE
Symbol LARGE contributors: mct - updated : 22-11-2011
HGNC name like-glycosyltransferase
HGNC id 6511
Corresponding disease
MDC1D muscular dystrophy,congenital, 1D
WLKWS3 Walker-Warburg syndrome 3
Location 22q12.3      Physical location : 33.669.062 - 34.316.416
Synonym name acetylglucosaminyltransferase-like protein
Synonym symbol(s) KIAA0609, CTA-282F2.1, MDC1D, MDDGA6, MDDGB6
DNA
TYPE functioning gene
STRUCTURE 647.36 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC391329 22 similar to ribosomal protein S17 SLC5A1 22q12.3 solute carrier family 5 (sodium/glucose cotransporter), member 1 ADTB1L1 22q12.3 adaptin, beta 1-like 1 ADTB1L2 22q12.3 adaptin, beta 1-like 2 LOC150297 22q12.3 hypothetical protein LOC150297 RFPL2 22q12.3 ret finger protein-like 2 SLC5A4 22q12.1-q12.3 solute carrier family 5 (low affinity glucose cotransporter), member 4 LOC391330 22 similar to immunoglobulin lambda light chain VLJ region RFPL3 22q12.2 ret finger protein-like 3 RFPL3S 22q12.3 ret finger protein-like 3 antisense HSPC117 22q12 hypothetical protein HSPC117 BPIL2 22q12.3 bactericidal/permeability-increasing protein-like 2 FBXO7 22q12-q13 F-box only protein 7 SYN3 22q12.3 synapsin III TIMP3 22q12.13 tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory) LARGE 22q12.3-q13.1 like-glycosyltransferase
regionally located localized in the meningioma critical region,see also MN1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 4201 - 756 - Peyrard
15 - 4138 - 756 - Peyrard
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Hearing/Equilibriumearinnercochlea highly
Nervousbrain    
 nervecranial nerve  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal targeting/membrane anchoring domain of glycosyltransferase followed by two coiled-coil domains
  • two catalytic domains with three DXD motifs, may be involved in the catalytic activity of this domain
  • a C terminal catalytic domain
  • HOMOLOGY
    intraspecies homolog to GYLTL1B
    Homologene
    FAMILY glycosyltransferase family 8
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • N-acetylglucosaminyl transferase, may be playing a role in tumor-specific genomic rearrangements
  • involved in alpha-dystroglycan glycosylation and playing an essential role for expression of functional dystroglycan
  • may be invoved in in neuronal migration
  • its repression is responsible for the defects in dystroglycan-mediated cell adhesion that are observed in epithelium-derived cancer cells and point to a defect of dystroglycan glycosylation as a factor in cancer progression
  • its expression mediates phosphoryl glycosylation
  • of not only O-mannosyl glycans including those on alpha-dystroglycan but also N-glycans on proteins other than alpha-dystroglycan
  • could act as a bifunctional glycosyltransferase, with both xylosyltransferase and glucuronyltransferase activities
  • LARGE and GYLTL1B catalyze the same glycosylation reactions for the functional modification of DAG1, but that they have different biochemical properties
  • LARGE and GYLTL1B may be functionally redundant
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • implicated in the postphosphoryl modification pathway that assembles the laminin-binding moiety onto the phosphorylated O-mannose of DAG1
  • DAG1 function requires xylosyl- and glucuronyltransferase activities of LARGE to bind laminin-G domain-containing ECM ligands
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MDC1D , WLKWS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in FCMD, MEB, WLKWS, LGMD2I
    tumoral        
    repression of LARGE is responsible for the defects in dystroglycan-mediated cell adhesion in epithelium-derived cancer cells (de Bernabé 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    potential therapies in the dystroglycanopathies based on LARGE upregulation and alpha-dystroglycan hyperglycosylation in muscle should be safe
    ANIMAL & CELL MODELS