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FLASH GENE
Symbol SMPD1 contributors: mct/npt - updated : 09-01-2009
HGNC name sphingomyelin phosphodiesterase 1, acid lysosomal
HGNC id 11120
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 2473 - 631 - Takahashi, Jones (2008)
5 - 2341 - 587 - Takahashi, Jones (2008)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Nervousbrain    
Reproductivefemale systemovary  highly
Respiratorylung    
Urinarykidney    
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectivebone   
Epithelial    
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunemacrophage
cell lineage
cell lines
fluid/secretion
at STAGE
IMPRINTING paternally
text paternally imprinted
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • acid sphingomyelinase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • hydrolyzing sphingomyelin to ceramide and phosphocholine
  • initiating the apoptotic pathway
  • key regulator in the process of the cytotoxic granule secretion by primary T lymphocytes
  • important enzyme in sphingolipid metabolism and plays key roles in apoptosis, immunity, development, and cancer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by upon FAS stimulation, activated through translocation from intracellular compartments to the plasma membrane in an exocytic pathway requiring the t-SNARE protein syntaxin 4
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) NPDA , NPDB
    Susceptibility to low HDL cholesterol and severe premature coronary heart disease
    Variant & Polymorphism other compound heterozygosity causing a severe decrease in Acid sphingomyelinase activity and in HDL-C and increases the risk of coronary artery disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS