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Gene Review

SPTLC1  -  serine palmitoyltransferase, long chain...

Homo sapiens

Synonyms: HSAN1, HSN1, LBC1, LCB 1, LCB1, ...
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Disease relevance of SPTLC1


High impact information on SPTLC1


Chemical compound and disease context of SPTLC1


Biological context of SPTLC1


Anatomical context of SPTLC1


Associations of SPTLC1 with chemical compounds


Physical interactions of SPTLC1

  • The endogenous LCB2 protein was co-purified with the tagged LCB1 protein in purification of SPT [19].

Other interactions of SPTLC1


Analytical, diagnostic and therapeutic context of SPTLC1


  1. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Bejaoui, K., Wu, C., Scheffler, M.D., Haan, G., Ashby, P., Wu, L., de Jong, P., Brown, R.H. Nat. Genet. (2001) [Pubmed]
  2. Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. Dawkins, J.L., Brahmbhatt, S., Auer-Grumbach, M., Wagner, K., Hartung, H.P., Verhoeven, K., Timmerman, V., De Jonghe, P., Kennerson, M., LeGuern, E., Nicholson, G.A. Neuromuscul. Disord. (2002) [Pubmed]
  3. De novo ceramide accumulation due to inhibition of its conversion to complex sphingolipids in apoptotic photosensitized cells. Dolgachev, V., Farooqui, M.S., Kulaeva, O.I., Tainsky, M.A., Nagy, B., Hanada, K., Separovic, D. J. Biol. Chem. (2004) [Pubmed]
  4. Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV. Verpoorten, N., Claeys, K.G., Deprez, L., Jacobs, A., Van Gerwen, V., Lagae, L., Arts, W.F., De Meirleir, L., Keymolen, K., Ceuterick-de Groote, C., De Jonghe, P., Timmerman, V., Nelis, E. Neuromuscul. Disord. (2006) [Pubmed]
  5. Enhanced serine palmitoyltransferase expression in proliferating fibroblasts, transformed cell lines, and human tumors. Carton, J.M., Uhlinger, D.J., Batheja, A.D., Derian, C., Ho, G., Argenteri, D., D'Andrea, M.R. J. Histochem. Cytochem. (2003) [Pubmed]
  6. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nicholson, G.A., Dawkins, J.L., Blair, I.P., Kennerson, M.L., Gordon, M.J., Cherryson, A.K., Nash, J., Bananis, T. Nat. Genet. (1996) [Pubmed]
  7. Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. Bejaoui, K., Uchida, Y., Yasuda, S., Ho, M., Nishijima, M., Brown, R.H., Holleran, W.M., Hanada, K. J. Clin. Invest. (2002) [Pubmed]
  8. N-(4-hydroxyphenyl)retinamide elevates ceramide in neuroblastoma cell lines by coordinate activation of serine palmitoyltransferase and ceramide synthase. Wang, H., Maurer, B.J., Reynolds, C.P., Cabot, M.C. Cancer Res. (2001) [Pubmed]
  9. Model system for removing neuroblastoma cells from bone marrow using monoclonal antibodies and magnetic immunobeads. Reynolds, C.P., Seeger, R.C., Vo, D.D., Black, A.T., Wells, J., Ugelstad, J. Cancer Res. (1986) [Pubmed]
  10. Endotoxin and cytokines increase hepatic sphingolipid biosynthesis and produce lipoproteins enriched in ceramides and sphingomyelin. Memon, R.A., Holleran, W.M., Moser, A.H., Seki, T., Uchida, Y., Fuller, J., Shigenaga, J.K., Grunfeld, C., Feingold, K.R. Arterioscler. Thromb. Vasc. Biol. (1998) [Pubmed]
  11. Serine palmitoyltransferase inhibitor suppresses HCV replication in a mouse model. Umehara, T., Sudoh, M., Yasui, F., Matsuda, C., Hayashi, Y., Chayama, K., Kohara, M. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  12. Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. Nicholson, G.A., Dawkins, J.L., Blair, I.P., Auer-Grumbach, M., Brahmbhatt, S.B., Hulme, D.J. Am. J. Hum. Genet. (2001) [Pubmed]
  13. SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies. Klein, C.J., Wu, Y., Kruckeberg, K.E., Hebbring, S.J., Anderson, S.A., Cunningham, J.M., Dyck, P.J., Klein, D.M., Thibodeau, S.N., Dyck, P.J. J. Neurol. Neurosurg. Psychiatr. (2005) [Pubmed]
  14. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Houlden, H., King, R.H., Muddle, J.R., Warner, T.T., Reilly, M.M., Orrell, R.W., Ginsberg, L. Ann. Neurol. (2004) [Pubmed]
  15. UVB irradiation up-regulates serine palmitoyltransferase in cultured human keratinocytes. Farrell, A.M., Uchida, Y., Nagiec, M.M., Harris, I.R., Dickson, R.C., Elias, P.M., Holleran, W.M. J. Lipid Res. (1998) [Pubmed]
  16. Characterization of serine palmitoyltransferase in normal human tissues. Batheja, A.D., Uhlinger, D.J., Carton, J.M., Ho, G., D'Andrea, M.R. J. Histochem. Cytochem. (2003) [Pubmed]
  17. Activity of partially inhibited serine palmitoyltransferase is sufficient for normal sphingolipid metabolism and viability of HSN1 patient cells. Dedov, V.N., Dedova, I.V., Merrill, A.H., Nicholson, G.A. Biochim. Biophys. Acta (2004) [Pubmed]
  18. Serine palmitoyltransferase regulates de novo ceramide generation during etoposide-induced apoptosis. Perry, D.K., Carton, J., Shah, A.K., Meredith, F., Uhlinger, D.J., Hannun, Y.A. J. Biol. Chem. (2000) [Pubmed]
  19. Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques. Hanada, K., Hara, T., Nishijima, M. J. Biol. Chem. (2000) [Pubmed]
  20. Cloning and Initial Characterization of a New Subunit for Mammalian Serine-palmitoyltransferase. Hornemann, T., Richard, S., R??tti, M.F., Wei, Y., von Eckardstein, A. J. Biol. Chem. (2006) [Pubmed]
  21. Nerve growth factor-tyrosine kinase A pathway is involved in thermoregulation and adaptation to stress: studies on patients with hereditary sensory and autonomic neuropathy type IV. Loewenthal, N., Levy, J., Schreiber, R., Pinsk, V., Perry, Z., Shorer, Z., Hershkovitz, E. Pediatr. Res. (2005) [Pubmed]
  22. Both sphingolipids and cholesterol participate in the detergent insolubility of alkaline phosphatase, a glycosylphosphatidylinositol-anchored protein, in mammalian membranes. Hanada, K., Nishijima, M., Akamatsu, Y., Pagano, R.E. J. Biol. Chem. (1995) [Pubmed]
  23. Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy. McCampbell, A., Truong, D., Broom, D.C., Allchorne, A., Gable, K., Cutler, R.G., Mattson, M.P., Woolf, C.J., Frosch, M.P., Harmon, J.M., Dunn, T.M., Brown, R.H. Hum. Mol. Genet. (2005) [Pubmed]
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