Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
Corresponding disease
DMRV myopathy, distal, with rimmed vacuoles
IBM2 inclusion body myopathy 2
SIAFT sialuria, French type
Location 9p13.3      Physical location : 36.214.440 - 36.277.053
Synonym name
  • UDP-GlcNAc-2-epimerase/ManAc kinase
  • N-acylmannosamine kinase
  • Synonym symbol(s) GLCNE, NM, DMRV, IBM2, Uae1
    EC.number 2.7.1.60, 5.1.3.14
    DNA
    TYPE like-sequence
    STRUCTURE 62.62 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D9S929 - D9S1794 - GNE - D9S1209 - D9S1221 - cen
    Physical map
    LOC138729 9p13.2 hypothetical gene LOC138729 TESK1 9p13 testis-specific kinase 1 CD72 9p13.1 CD72 antigen SIT 9p13-p12 CD72 antigen MGC31967 9p13.2 hypothetical protein MGC31967 FLJ14642 9p13.2 hypothetical protein FLJ14642 CA9 9p13-p12 carbonic anhydrase IX TPM2 9p13.2-p13.1 tropomyosin 2 (beta) TLN1 9p13 talin 1 CREB3 9p13.2 cAMP responsive element binding protein 3 (luman) GBA2 9p13.3-p11.2 glucosidase, beta (bile acid) 2 KIAA0258 9pter-p22.1 KIAA0258 protein NPR2 9p21-p12 natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) SPAG8 9p13-p12 sperm associated antigen 8 HINT2 9p11.2 histidine triad nucleotide binding protein 2 LOC392307 9 similar to RIKEN cDNA 4930412F15 gene NGX6 9p13.1 nasopharyngeal carcinoma related protein LOC389718 9 LOC389718 LOC392308 9 similar to Olfactory receptor 70 LOC392309 9 similar to Olfactory receptor 13J1 LOC392310 9 similar to Phosphoglycerate mutase 1 (Phosphoglycerate mutase isozyme B) (PGAM-B) (BPG-dependent PGAM 1) OR2S2 9p13.3-p13.1 olfactory receptor, family 2, subfamily S, member 2 LOC389719 9 hypothetical gene supported by M24070; NM_004559 LOC392311 9 similar to seven transmembrane helix receptor OR13C7P 9 olfactory receptor, family 13, subfamily C, member 7 pseudogene LOC392313 9 similar to olfactory receptor RECK 9p13-p12 reversion-inducing-cysteine-rich protein with kazal motifs C9orf19 9p12-p13 chromosome 9 open reading frame 19 CCIN 9p13-p12 calicin CLTA 9p13-p12 clathrin, light polypeptide (Lca) GNE 9p13-p12 clathrin, light polypeptide (Lca) LOC392314 9 similar to high mobility group protein homolog HMG4 RNF38 9p13-p12 ring finger protein 38 MRPS21P4 9p13.1 mitochondrial ribosomal protein S21 pseudogene 4 MELK 9p11.2 maternal embryonic leucine zipper kinase PAX5 9p13 paired box gene 5 (B-cell lineage specific activator protein)
    regionally located 78kb telomeric to RNF38
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 5313 - 753 - 2009 18815882
  • GNE2
  • a 31 AA N-terminal extension compared to GNE1
  • displayed selective reduction of UDP-GlcNAc 2-epimerase activity by the loss of its tetrameric state, which is essential for full enzyme activity
  • role of GNE1 in basic supply of cells with sialic acids, whereas GNE2 and GNE3 may have a function in fine-tuning of the sialic acid pathway
  • 12 - 5329 - 722 - 2009 18815882
  • GNE1
  • role of GNE1 in basic supply of cells with sialic acids, whereas GNE2 and GNE3 may have a function in fine-tuning of the sialic acid pathway
  • 11 - 5107 - 717 - 2009 18815882
  • GNE3
  • a 55-AA N-terminal deletion and a 50-AA N-terminal extension compared to GNE1
  • epimerase enzymatic activity of GNE3 and GNE8 is likely absent, because the deleted fragment contains important substrate binding residues in homologous bacterial epimerases
  • role of GNE1 in basic supply of cells with sialic acids, whereas GNE2 and GNE3 may have a function in fine-tuning of the sialic acid pathway
  • 10 - 4970 - 612 - 2009 18815882
    11 - 5107 - 648 - 2009 18815882
    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