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FLASH GENE
Symbol ALG1 contributors: mct/npt - updated : 20-11-2009
HGNC name asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)
HGNC id 18294
Corresponding disease
CDG1K congenital disorder of glycosylation, type 1K
Location 16p13.3      Physical location : 5.121.809 - 5.137.378
Synonym name
  • asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)
  • GDP-Man : GlcNAc(2)-PP-dolichol mannosyltransferase
  • beta-1,4 mannosyltransferase
  • Synonym symbol(s) HMAT1, HMT-1, HMT1, MT-1
    EC.number 2.4.1.142
    DNA
    TYPE functioning gene
    STRUCTURE 15.57 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3946 - 464 - Grubenmann (2004)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea  
    Nervousbrainhindbraincerebellum  
     brainforebraincerebral cortexfrontal 
    Visualeyeuveachoroid  
     eyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a hydrophobic region at the N terminus
  • short hydrophilic and hydrophobic regions
  • HOMOLOGY
    interspecies ortholog to murine Alg1
    Homologene
    FAMILY
  • glycosyltransferase 1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    basic FUNCTION
  • involved in lipopolysaccharide biosynthesis and having mannosyltransferase activity
  • prior to its lumenal translocation and transfer to nascent glycoproteins, involved in mannosylation of Man(5)GlcNAc(2)-PP-dolichol (Gao 2004)
  • CELLULAR PROCESS protein, post translation
    protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interaction between ALG1, ALG2, ALG11 (an additional level of regulation that ensures the fidelity of complex oligosaccharide structures involves the physical association of the related catalytic enzymes in the ER membrane)(Gao 2004)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG1K
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS