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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
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas    
Reproductivefemale systembreastmammary gland  
 female systemuteruscervix  
Skin/Tegumentskin    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialabsorptive excretorydigestive epithelium  
Epithelialbarrier/lininguroepithelium  
Epithelialsecretoryglandularexocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
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