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Gene Review

SMPD1  -  sphingomyelin phosphodiesterase 1, acid...

Homo sapiens

Synonyms: ASM, ASMASE, Acid sphingomyelinase, NPD, Sphingomyelin phosphodiesterase, ...
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Disease relevance of SMPD1


Psychiatry related information on SMPD1


High impact information on SMPD1


Chemical compound and disease context of SMPD1


Biological context of SMPD1

  • In contrast to the previous provisional localization to chromosome 17, these results assign a single locus for human SMPD1 to 11p15.1----p15.4 [1].
  • Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1) [19].
  • In a panel of 15 hybrid cell lines, amplification of the human SMPD1 sequence was 100% concordant with the presence of human chromosome 11 [1].
  • The G29fsX74, S248R, H319Y, P371S, F463S, P475L and Y537H SMPD1 mutations are all novel and were verified by PCR/RFLP and/or ARMS [20].
  • We identified nine novel mutations in the SMPD1 gene including six single base changes c.2T>G, c.96G>A, c.308T>C, c.674T>C, c.732G>C, c.841G>A (p.M1_W32del, p.W32X, p.L103P, p.L225P, p.W244C, p.A281T) and three frameshift mutations c.100delC, c.565dupC, c.575dupC (p.G34fsX42, p.P189fsX1 and p.P192fsX14) [21].

Anatomical context of SMPD1


Associations of SMPD1 with chemical compounds


Physical interactions of SMPD1


Regulatory relationships of SMPD1


Other interactions of SMPD1


Analytical, diagnostic and therapeutic context of SMPD1


  1. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4. da Veiga Pereira, L., Desnick, R.J., Adler, D.A., Disteche, C.M., Schuchman, E.H. Genomics (1991) [Pubmed]
  2. Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease. Dodge, J.C., Clarke, J., Song, A., Bu, J., Yang, W., Taksir, T.V., Griffiths, D., Zhao, M.A., Schuchman, E.H., Cheng, S.H., O'Riordan, C.R., Shihabuddin, L.S., Passini, M.A., Stewart, G.R. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  3. Rhinoviruses infect human epithelial cells via ceramide-enriched membrane platforms. Grassmé, H., Riehle, A., Wilker, B., Gulbins, E. J. Biol. Chem. (2005) [Pubmed]
  4. Acid sphingomyelinase activation requires caspase-8 but not p53 nor reactive oxygen species during Fas-induced apoptosis in human glioma cells. Sawada, M., Nakashima, S., Kiyono, T., Yamada, J., Hara, S., Nakagawa, M., Shinoda, J., Sakai, N. Exp. Cell Res. (2002) [Pubmed]
  5. Familial adenomatous polyposis is associated with a marked decrease in alkaline sphingomyelinase activity: a key factor to the unrestrained cell proliferation? Hertervig, E., Nilsson, A., Björk, J., Hultkrantz, R., Duan, R.D. Br. J. Cancer (1999) [Pubmed]
  6. Borderline personality disorder in major depression: symptomatology, temperament, character, differential drug response, and 6-month outcome. Joyce, P.R., Mulder, R.T., Luty, S.E., McKenzie, J.M., Sullivan, P.F., Cloninger, R.C. Comprehensive psychiatry. (2003) [Pubmed]
  7. High activity of acid sphingomyelinase in major depression. Kornhuber, J., Medlin, A., Bleich, S., Jendrossek, V., Henkel, A.W., Wiltfang, J., Gulbins, E. Journal of neural transmission (Vienna, Austria : 1996) (2005) [Pubmed]
  8. Nocturnal paroxysmal dystonia: a clinical form of focal epilepsy. Hirsch, E., Sellal, F., Maton, B., Rumbach, L., Marescaux, C. Neurophysiologie clinique = Clinical neurophysiology. (1994) [Pubmed]
  9. Depressed mood and executive dysfunction in early Parkinson's disease. Uekermann, J., Daum, I., Peters, S., Wiebel, B., Przuntek, H., Müller, T. Acta neurologica Scandinavica. (2003) [Pubmed]
  10. Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. Réthy , L.A., Kálmánchey , R., Klujber , V., Koós , R., Fekete , G. Pathol. Oncol. Res. (2000) [Pubmed]
  11. Acidic sphingomyelinase mediates entry of N. gonorrhoeae into nonphagocytic cells. Grassmé, H., Gulbins, E., Brenner, B., Ferlinz, K., Sandhoff, K., Harzer, K., Lang, F., Meyer, T.F. Cell (1997) [Pubmed]
  12. Inhibition of the anti-apoptotic PI(3)K/Akt/Bad pathway by stress. Zundel, W., Giaccia, A. Genes Dev. (1998) [Pubmed]
  13. Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. Levran, O., Desnick, R.J., Schuchman, E.H. J. Clin. Invest. (1991) [Pubmed]
  14. Intracerebral transplantation of adult mouse neural progenitor cells into the Niemann-Pick-A mouse leads to a marked decrease in lysosomal storage pathology. Shihabuddin, L.S., Numan, S., Huff, M.R., Dodge, J.C., Clarke, J., Macauley, S.L., Yang, W., Taksir, T.V., Parsons, G., Passini, M.A., Gage, F.H., Stewart, G.R. J. Neurosci. (2004) [Pubmed]
  15. Acid sphingomyelinase: relation of 93lysine residue on the ratio of intracellular to secreted enzyme activity. Takahashi, I., Takahashi, T., Mikami, T., Komatsu, M., Ohura, T., Schuchman, E.H., Takada, G. Tohoku J. Exp. Med. (2005) [Pubmed]
  16. Cisplatin-induced CD95 redistribution into membrane lipid rafts of HT29 human colon cancer cells. Lacour, S., Hammann, A., Grazide, S., Lagadic-Gossmann, D., Athias, A., Sergent, O., Laurent, G., Gambert, P., Solary, E., Dimanche-Boitrel, M.T. Cancer Res. (2004) [Pubmed]
  17. Processing of human acid sphingomyelinase in normal and I-cell fibroblasts. Hurwitz, R., Ferlinz, K., Vielhaber, G., Moczall, H., Sandhoff, K. J. Biol. Chem. (1994) [Pubmed]
  18. Calmodulin antagonist W-7 inhibits lysosomal sphingomyelinase activity in C6 glioma cells. Masson, M., Albouz, S., Boutry, J.M., Spezzatti, B., Castagna, M., Baumann, N. J. Neurochem. (1989) [Pubmed]
  19. Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Schuchman, E.H., Levran, O., Pereira, L.V., Desnick, R.J. Genomics (1992) [Pubmed]
  20. Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. Sikora, J., Pavlu-Pereira, H., Elleder, M., Roelofs, H., Wevers, R.A. Ann. Hum. Genet. (2003) [Pubmed]
  21. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. Pittis, M.G., Ricci, V., Guerci, V.I., Marçais, C., Ciana, G., Dardis, A., Gerin, F., Stroppiano, M., Vanier, M.T., Filocamo, M., Bembi, B. Hum. Mutat. (2004) [Pubmed]
  22. UV-C light induces raft-associated acid sphingomyelinase and JNK activation and translocation independently on a nuclear signal. Charruyer, A., Grazide, S., Bezombes, C., Müller, S., Laurent, G., Jaffrézou, J.P. J. Biol. Chem. (2005) [Pubmed]
  23. Neutral and acid sphingomyelinases: somatotopographical distribution in human brain and distribution in rat organs. A possible relationship with the dopamine system. Spence, M.W., Burgess, J.K., Sperker, E.R. Brain Res. (1979) [Pubmed]
  24. Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase-Deficient Niemann-Pick Disease. Simonaro, C.M., Park, J.H., Eliyahu, E., Shtraizent, N., McGovern, M.M., Schuchman, E.H. Am. J. Hum. Genet. (2006) [Pubmed]
  25. Effects of ceramide inhibition on radiation-induced apoptosis in human leukemia MOLT-4 cells. Takahashi, E., Inanami, O., Asanuma, T., Kuwabara, M. J. Radiat. Res. (2006) [Pubmed]
  26. Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol. Lee, C.Y., Krimbou, L., Vincent, J., Bernard, C., Larramée, P., Genest, J., Marcil, M. Hum. Genet. (2003) [Pubmed]
  27. Activation of human acid sphingomyelinase through modification or deletion of C-terminal cysteine. Qiu, H., Edmunds, T., Baker-Malcolm, J., Karey, K.P., Estes, S., Schwarz, C., Hughes, H., Van Patten, S.M. J. Biol. Chem. (2003) [Pubmed]
  28. Acid ceramidase but not acid sphingomyelinase is required for tumor necrosis factor-{alpha}-induced PGE2 production. Zeidan, Y.H., Pettus, B.J., Elojeimy, S., Taha, T., Obeid, L.M., Kawamori, T., Norris, J.S., Hannun, Y.A. J. Biol. Chem. (2006) [Pubmed]
  29. Acid Sphingomyelinase Is Required for Lipid Raft TLR4 Complex Formation. Cuschieri, J., Bulger, E., Billgrin, J., Garcia, I., Maier, R.V. Surgical infections (2007) [Pubmed]
  30. Activation of endothelial nitric-oxide synthase by tumor necrosis factor-alpha: a novel pathway involving sequential activation of neutral sphingomyelinase, phosphatidylinositol-3' kinase, and Akt. Barsacchi, R., Perrotta, C., Bulotta, S., Moncada, S., Borgese, N., Clementi, E. Mol. Pharmacol. (2003) [Pubmed]
  31. TNF-induced activation of NF-kappa B. Schütze, S., Wiegmann, K., Machleidt, T., Krönke, M. Immunobiology (1995) [Pubmed]
  32. Acid sphingomyelinase is involved in CEACAM receptor-mediated phagocytosis of Neisseria gonorrhoeae. Hauck, C.R., Grassmé, H., Bock, J., Jendrossek, V., Ferlinz, K., Meyer, T.F., Gulbins, E. FEBS Lett. (2000) [Pubmed]
  33. Inhibition of receptor internalization by monodansylcadaverine selectively blocks p55 tumor necrosis factor receptor death domain signaling. Schütze, S., Machleidt, T., Adam, D., Schwandner, R., Wiegmann, K., Kruse, M.L., Heinrich, M., Wickel, M., Krönke, M. J. Biol. Chem. (1999) [Pubmed]
  34. Activation of acid sphingomyelinase by interleukin-1 (IL-1) requires the IL-1 receptor accessory protein. Hofmeister, R., Wiegmann, K., Korherr, C., Bernardo, K., Krönke, M., Falk, W. J. Biol. Chem. (1997) [Pubmed]
  35. CD161 (human NKR-P1A) signaling in NK cells involves the activation of acid sphingomyelinase. Pozo, D., Valés-Gómez, M., Mavaddat, N., Williamson, S.C., Chisholm, S.E., Reyburn, H. J. Immunol. (2006) [Pubmed]
  36. Epidermal growth factor inhibits ceramide-induced apoptosis and lowers ceramide levels in primary placental trophoblasts. Payne, S.G., Brindley, D.N., Guilbert, L.J. J. Cell. Physiol. (1999) [Pubmed]
  37. Preimplantation genetic diagnosis for Niemann-Pick disease type B. Hellani, A., Schuchman, E.H., Al-Odaib, A., Al Aqueel, A., Jaroudi, K., Ozand, P., Coskun, S. Prenat. Diagn. (2004) [Pubmed]
  38. Up-regulation of acid sphingomyelinase during retinoic acid-induced myeloid differentiation of NB4, a human acute promyelocytic leukemia cell line. Murate, T., Suzuki, M., Hattori, M., Takagi, A., Kojima, T., Tanizawa, T., Asano, H., Hotta, T., Saito, H., Yoshida, S., Tamiya-Koizumi, K. J. Biol. Chem. (2002) [Pubmed]
  39. Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis. Ferlinz, K., Hurwitz, R., Moczall, H., Lansmann, S., Schuchman, E.H., Sandhoff, K. Eur. J. Biochem. (1997) [Pubmed]
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