Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NEU1 contributors: mct/pgu - updated : 03-12-2012
HGNC name sialidase 1 (lysosomal sialidase)
HGNC id 7758
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
Physical map
BAT3 6p21.33 HLA-B associated transcript 3 APOM 6p21.31 apolipoprotein M C6orf47 6p21.3 chromosome 6 open reading frame 47 BAT4 6p21.33 HLA-B associated transcript 4 CSNK2B 6p21.3 casein kinase 2, beta polypeptide LY6G5B 6p21.3 lymphocyte antigen 6 complex, locus G5B LY6G5C 6p21.3 lymphocyte antigen 6 complex, locus G5C BAT5 6p21.33 HLA-B associated transcript 5 LY6G6D 6p21.3 lymphocyte antigen 6 complex, locus G6D LY6G6E 6p21.3 lymphocyte antigen 6 complex, locus G6E LY6G6C 6p21.3 lymphocyte antigen 6 complex, locus G6C C6orf25 6p21.3 chromosome 6 open reading frame 25 DDAH2 6p21.3 dimethylarginine dimethylaminohydrolase 2 CLIC1 6p21.3 chloride intracellular channel 1 MSH5 6p21.3 mutS homolog 5 (E. coli) C6orf27 6p21.31 chromosome 6 open reading frame 27 VARS2 6p21.3 valyl-tRNA synthetase 2 LSM2 6p21.3 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) HSPA1L 6p21.3 heat shock 70kDa protein 1-like HSPA1A 6p21.3 heat shock 70kDa protein 1A HSPA1B 6p21.3 heat shock 70kDa protein 1B C6orf48 6p21.3 chromosome 6 open reading frame 48 NEU1 6p21.3 sialidase 1 (lysosomal sialidase) C6orf29 6p21.3 chromosome 6 open reading frame 29 BAT8 6p21.31 HLA-B associated transcript 8 C6orf46 6p21.31 chromosome 6 open reading frame 46 C2 6p21.3 complement component 2 BF 6p21.3 B-factor, properdin RDBP 6p21.33 RD RNA binding protein SKIV2L 6p21.3 superkiller viralicidic activity 2-like (S. cerevisiae) DOM3Z 6p21.3 dom-3 homolog Z (C. elegans) STK19 6p21.3 serine/threonine kinase 19 C4B 6p21.3 complement component 4B CYP21A2 6p21.3 cytochrome P450, family 21, subfamily A, polypeptide 2 TNXB 6p21.3 tenascin XB
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