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FLASH GENE
Symbol SMPD4 contributors: mct - updated : 25-10-2019
HGNC name sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)
HGNC id 32949
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • lacks an N-terminal signal peptide
  • a protein-protein interaction domain
  • a C-terminal transmembrane domain close to the putative enzyme active site, which includes a potential N-glycosylation site
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nuclear envelope,pore
    text
  • presence of SMPD4 at the endoplasmic reticulum (ER) and the Golgi apparatus, and and to the nuclear envelope
  • SMPD4 is enriched at the nuclear pore complexes (NPCs)
    • basic FUNCTION
  • play a role in sphingolipid homeostasis and membrane structure
  • an important molecule that is linked to tumorigenesis and cellular stress response
  • is a signaling neutral sphingomyelinase (nSMase) in skeletal muscle that is essential for TNF-stimulated oxidant activity
  • SMPD4 links homeostasis of membrane sphingolipids to cell fate by regulating the cross-talk between the ER and the outer nuclear envelope
  • role of SMPD4 in cell fate and mitosis , and primary function of SMPD4 in brain development and in postnatal brain function
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDMABA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    deregulated in several types of primary tumors when compared with their matching normal tissues
    tumoral     --over  
    in late stage of clear cell renal cell carcinoma (ccRCC)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS