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FLASH GENE
Symbol NEU1 contributors: mct/pgu - updated : 03-12-2012
HGNC name sialidase 1 (lysosomal sialidase)
HGNC id 7758
Corresponding disease
NEU1D NEU1 deficiency
Location 6p21.33      Physical location : 3.112.415 - 31.830.709
Synonym name
  • major histocompatibility class III region, G9 (see HTFAG@)
  • G9 sialidase
  • exo-alpha-sialidase
  • neuraminidase
  • acetylneuraminyl hydrolase
  • Synonym symbol(s) SIAL1, NEU, FLJ93471, NANH
    EC.number 3.2.1.18
    DNA
    TYPE functioning gene
    STRUCTURE 3.88 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure promoter was proven to be highly up-regulated by MYOD1 and repressed by activated MAP2K3
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2088 - 415 - 2008 18772331
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessels    
    Digestiveliver    
    Nervousbrain    
    Reproductivefemale systembreastmammary gland highly
     male systemtestis  highly Homo sapiens
    Respiratoryrespiratory tract     Homo sapiens
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Connectivecartilage   
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • enzyme containing the F/YRTP motif in N terminal region conserved in all sialidases and five Asp boxes (S-X-D-X-G-X-X-T/W)
  • mono polymer homomer , heteromer , dimer , oligo
    HOMOLOGY
    interspecies homolog to murine Neu1 (83.9pc)
    homolog to rattus Neu1 (83.7pc)
    Homologene
    FAMILY
  • glycosyl hydrolase 33 family, neuraminidases family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,lysosome
    intracellular,nuclear envelope,ext
    text
  • located in the outer membrane of the nuclear envelope
  • localized to both the plasma membrane and the perinuclear region
  • NEU1 and NEU3 are present on erythrocyte plasma membrane
  • basic FUNCTION
  • involved in stepwise degradation of complex type of oligosaccharide structure (glycoprotein catabolism), and cleavage of sialic acid from GM1 gangliosides
  • upregulated during T cell activation
  • can desialylate neighboring microfibrillar glycoproteins and facilitate the deposition of insoluble elastin, which contributes to the maintenance of cellular quiescence
  • desialylates and functionally inactivates adjacent receptors interacting with the mitogenic growth factors PDGF-BB and IGF2
  • negatively regulates lysosomal exocytosis in hematopoietic cells by processing the sialic acids on the lysosomal membrane protein LAMP1
  • targeted to the cell surface in a multiprotein complex that facilitates elastic fiber assembly
  • having a possible regulatory role in the early stages of myogenesis
  • negative regulator of lysosomal exocytosis
  • has been shown to regulate phagocytosis in macrophage cells
  • NEU1 and MMP9 in complex with TLR receptors at the ectodomain form a molecular organizational signaling platform on the cell surface that is essential for ligand activation of TLR receptors and cellular signaling
  • novel role as an intermediate in the initial process of ligand-induced TLR receptor activation and subsequent cellular signaling
  • NEU1 restrains endothelial cell migration, whereas NEU3 does not
  • its catalytic activity may offer an additional level of regulation over the airway epithelial response to ligands, pathogens, and injurious stimuli
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS nervous system , endocytosis transport , ossification
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
  • complexing with beta-galactosidase and protective cathepsin A (CTSA)
  • subunit of the cell surface elastin receptor
  • in absence of CTSA, self-associating into chain-like oligomers
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with the protective protein CTSA, GLB1 and GALNS
  • tightly regulates neurotrophin receptors like NTRK1 and NTRK2, which involve NEU1 and matrix metalloproteinase-9 (MMP9) cross-talk in complex with the receptors
  • associated with EGFR and MUC1, and NEU1-EGFR association was regulated by EGF stimulation
  • cell & other
  • membrane associated
  • REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway, activated and stabilized
    ASSOCIATED DISORDERS
    corresponding disease(s) NEU1D
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in sperm of some male idiopathic infertility cases
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS