LMPD Database

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LMP001883

UniProt Annotations

Entry Information
Gene Namesphingomyelin phosphodiesterase 3, neutral
Protein EntryNSMA2_MOUSE
UniProt IDQ9JJY3
SpeciesMouse
Comments
Comment typeDescription
Catalytic ActivitySphingomyelin + H(2)O = N-acylsphingosine + phosphocholine. {ECO:0000269|PubMed:12566438}.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000269|PubMed:12566438};
Disruption PhenotypeDefects in smpd3 are the cause of fragilitas ossium (fro) mutation characterized by severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Mice lacking Smpd2 and Smpd3 are completely devoid of neutral SMase activity but do not developed sphingomyelin storage abnormalities. Mice lacking Smpd3 develop a form of dwarfism and delayed puberty as part of a hypothalamus-induced combined pituitary hormone deficiency (CPHD). Growth retardation is probably due to delayed ossification of long bones. {ECO:0000269|PubMed:15764706}.
Enzyme RegulationInhibited by nSMase inhibitor GW4869. {ECO:0000269|PubMed:12566438}.
FunctionCatalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Acts as a regulator of postnatal development and participates in bone and dentin mineralization. Overexpression enhances cell death, suggesting that it may be involved in apoptosis control. {ECO:0000269|PubMed:15051724, ECO:0000269|PubMed:15764706, ECO:0000269|PubMed:15929065, ECO:0000269|PubMed:16025116}.
PathwayLipid metabolism; sphingolipid metabolism.
PtmPalmitoylated, palmitoylation-deficient proteins are targeted for lysosomal degradation. {ECO:0000269|PubMed:17272284}.
SimilarityBelongs to the neutral sphingomyelinase family. {ECO:0000305}.
Subcellular LocationGolgi apparatus membrane; Lipid-anchor. Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Note=May localize to detergent-resistant subdomains of Golgi membranes of hypothalamic neurosecretory neurons.
Tissue SpecificityPredominantly expressed in brain (at protein level). {ECO:0000269|PubMed:10823942}.