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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
Corresponding disease
NPDA Niemann-Pick disease, type A
NPDB Niemann-Pick disease, type B
Location 11p15.3      Physical location : 6.411.643 - 6.416.227
Synonym name acid sphingomyelinase
Synonym symbol(s) ASM, SPM1, NPD, A-SMase
EC.number 3.1.4.12, 3.1.4.41
DNA
TYPE anonymous DNA segment
STRUCTURE 4.57 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site
MAPPING cloned Y linked N status provisional
Physical map
LOC390080 11 similar to olfactory receptor MOR32-1 LOC390081 11 similar to Olfactory receptor 52E4 LOC390082 11 similar to Olfactory receptor 52E5 LOC390083 11 similar to Olfactory receptor 56A6 LOC390084 11 similar to Olfactory receptor 56A4 LOC338751 11p15.4 similar to Olfactory receptor 52L1 LOC390085 11 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC120793 11p15.4 similar to Olfactory receptor 56A4 LOC120796 11p15.4 similar to Olfactory receptor 56A1 LOC390086 11 similar to Olfactory receptor 56A1 LOC390087 11 similar to Olfactory receptor 52L2 OR52X1P 11p15.3 olfactory receptor, family 52, subfamily X, member 1 pseudogene LOC196335 11p15.4 similar to Olfactory receptor 56B4 LOC390088 11 similar to seven transmembrane helix receptor LOC390089 11 hypothetical gene supported by AF359415 LOC255725 11p15.4 similar to seven transmembrane helix receptor LOC120787 11p15.4 similar to seven transmembrane helix receptor MGC34805 11p15.4 hypothetical protein MGC34805 DKFZP566M1046 11p15.4 hypothetical protein DKFZp566M1046 CNGA4 11p15.4 cyclic nucleotide gated channel alpha 4 CCKBR 11p15.4 cholecystokinin B receptor PRKCDBP 11p15.5-p15.4 protein kinase C, delta binding protein SMPD1 11p15.3 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase) APBB1 11p15.5 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) HPX 11p15.5 hemopexin TRIM3 11p15.5 tripartite motif-containing 3 ARFIP2 11p15 ADP-ribosylation factor interacting protein 2 (arfaptin 2) FXC1 11p15.2-p15.5 fracture callus 1 homolog (rat) LOC390090 11 similar to voltage-dependent anion channel 1 FLJ35709 11p15.4 hypothetical protein FLJ35709 LOC387749 11 hypothetical gene supported by BX647806 LOC196337 11p15.4 hypothetical protein LOC196337 LOC387750 11 similar to SI:zC220F6.1 (novel protein similar to human dynein heavy chain (DHC)) FLJ32752 11p15.4 hypothetical protein FLJ32752 KIAA0409 11p15.5-p15.2 hypothetical protein FLJ32752 ILK 11p15.3 integrin-linked kinase TAF10 11p15.3 TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa CLN2 11p15.3 ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease) PCDH16 11p15.4 protocadherin 16 dachsous-like (Drosophila) MRPL17 11p15.5-p15.4 mitochondrial ribosomal protein L17 LOC387751 11 similar to very large inducible GTPase-1
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