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Symbol ALG8 contributors: mct/npt - updated : 25-09-2009
HGNC name asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)
HGNC id 23161
Corresponding disease
CDG1H congenital disorder of the glycosylation, type 1H
Location 11q14.1      Physical location : 77.811.987 - 77.850.699
Synonym name
  • asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)
  • dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase
  • asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)
  • Synonym symbol(s) MGC2840, HUSSY-02
    EC.number 2.4.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 38.71 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1668 60 526 - Otsuki, Schollen (2004)
    the shortest transcript, but encodes the longest isoform
    14 - 1743 - 467 - Otsuki, Schollen (2004)
    contains an additional segment in the coding region
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellumcerebellar cortex 
    Reproductivefemale systemovary   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines B cells (Ramos cell lines)
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine transmembrane domains
  • an ER membrane domain
  • HOMOLOGY
    interspecies ortholog to murine Alg8
    Homologene
    FAMILY
  • Alg6/Alg8 glycosyltransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • glycosyltransferase (adds the second glucose to the lipid-linked oligosaccharide precursor used in the N-glycosylation of protein)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG1H
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS