SPTLC1

Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a human gene.cite web | title = Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10558| accessdate = ]

PBB_Summary
section_title =
summary_text = Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified.cite web | title = Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10558| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Weiss B, Stoffel W |title=Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis. |journal=Eur. J. Biochem. |volume=249 |issue= 1 |pages= 239–47 |year= 1997 |pmid= 9363775 |doi=
*cite journal | author=Gable K, Slife H, Bacikova D, "et al." |title=Tsc3p is an 80-amino acid protein associated with serine palmitoyltransferase and required for optimal enzyme activity. |journal=J. Biol. Chem. |volume=275 |issue= 11 |pages= 7597–603 |year= 2000 |pmid= 10713067 |doi=
*cite journal | author=Hanada K, Hara T, Nishijima M |title=Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques. |journal=J. Biol. Chem. |volume=275 |issue= 12 |pages= 8409–15 |year= 2000 |pmid= 10722674 |doi=
*cite journal | author=Perry DK, Carton J, Shah AK, "et al." |title=Serine palmitoyltransferase regulates de novo ceramide generation during etoposide-induced apoptosis. |journal=J. Biol. Chem. |volume=275 |issue= 12 |pages= 9078–84 |year= 2000 |pmid= 10722759 |doi=
*cite journal | author=Bejaoui K, Wu C, Scheffler MD, "et al." |title=SPTLC1 is mutated in hereditary sensory neuropathy, type 1. |journal=Nat. Genet. |volume=27 |issue= 3 |pages= 261–2 |year= 2001 |pmid= 11242106 |doi= 10.1038/85817
*cite journal | author=Dawkins JL, Hulme DJ, Brahmbhatt SB, "et al." |title=Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. |journal=Nat. Genet. |volume=27 |issue= 3 |pages= 309–12 |year= 2001 |pmid= 11242114 |doi= 10.1038/85879
*cite journal | author=Nicholson GA, Dawkins JL, Blair IP, "et al." |title=Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. |journal=Am. J. Hum. Genet. |volume=69 |issue= 3 |pages= 655–9 |year= 2001 |pmid= 11479835 |doi=
*cite journal | author=Stachowitz S, Alessandrini F, Abeck D, "et al." |title=Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis. |journal=J. Invest. Dermatol. |volume=119 |issue= 5 |pages= 1048–52 |year= 2003 |pmid= 12445191 |doi= 10.1046/j.1523-1747.2002.19524.x
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=CAMPBELL AM, HOFFMAN HL |title=SENSORY RADICULAR NEUROPATHY ASSOCIATED WITH MUSCLE WASTING IN TWO CASES. |journal=Brain |volume=87 |issue= |pages= 67–74 |year= 1996 |pmid= 14152213 |doi=
*cite journal | author=Verhoeven K, Coen K, De Vriendt E, "et al." |title=SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. |journal=Neurology |volume=62 |issue= 6 |pages= 1001–2 |year= 2004 |pmid= 15037712 |doi=
*cite journal | author=Humphray SJ, Oliver K, Hunt AR, "et al." |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369–74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465
*cite journal | author=Dedov VN, Dedova IV, Nicholson GA |title=Hypoxia causes aggregation of serine palmitoyltransferase followed by non-apoptotic death of human lymphocytes. |journal=Cell Cycle |volume=3 |issue= 10 |pages= 1271–7 |year= 2006 |pmid= 15467453 |doi=
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=McCampbell A, Truong D, Broom DC, "et al." |title=Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy. |journal=Hum. Mol. Genet. |volume=14 |issue= 22 |pages= 3507–21 |year= 2006 |pmid= 16210380 |doi= 10.1093/hmg/ddi380
*cite journal | author=Chen M, Han G, Dietrich CR, "et al." |title=The essential nature of sphingolipids in plants as revealed by the functional identification and characterization of the Arabidopsis LCB1 subunit of serine palmitoyltransferase. |journal=Plant Cell |volume=18 |issue= 12 |pages= 3576–93 |year= 2007 |pmid= 17194770 |doi= 10.1105/tpc.105.040774
*cite journal | author=Hornemann T, Wei Y, von Eckardstein A |title=Is the mammalian serine palmitoyltransferase a high-molecular-mass complex? |journal=Biochem. J. |volume=405 |issue= 1 |pages= 157–64 |year= 2007 |pmid= 17331073 |doi= 10.1042/BJ20070025
*cite journal | author=Ewing RM, Chu P, Elisma F, "et al." |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue= |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134

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