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FLASH GENE
Symbol GNE contributors: mct/npt - updated : 25-03-2013
HGNC name glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
HGNC id 23657
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • two functional domains
  • an epimerase domain
  • a kinase domain (Eisenberg 2008)
  • HOMOLOGY
    interspecies homolog to murine Uac1
    Homologene
    FAMILY
  • ROK family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • key enzyme of sialic acid biosynthesis
  • biosynthesis of N-acetylneuraminic acid catalyzing the first step rate limiting in sialic acid biosynthesis
  • bi-functional enzyme acting in the biosynthetic pathway of sialic acid
  • a bifunctional enzyme which catalyzes the two key sequential steps in the biosynthetic pathway of sialic acid, the most abundant terminal monosaccharide on glycoconjugates of eukaryotic cells
  • plays an important role in neuronal cell and brain development, and is strongly involved in cardiac tissue and skeletal muscle early survival and organization
  • catalyzes the first two committed steps in sialic acid synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CRMP1 and ZBTB16
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IBM2 , DMRV , SIAFT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    occurred predominantly in pancreatic cancer but also in other malignancies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS