SPTLC1

Serine palmitoyltransferase, long chain base subunit 1
Identifiers
Symbols	SPTLC1 ; HSAN; HSAN1; HSN1; LBC1; LCB1; MGC14645; SPT1; SPTI
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4681
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a human gene.

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.

Further reading

• Weiss B, Stoffel W (1997). "Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis". Eur. J. Biochem. 249 (1): 239–47. PMID 9363775.
• Gable K, Slife H, Bacikova D; et al. (2000). "Tsc3p is an 80-amino acid protein associated with serine palmitoyltransferase and required for optimal enzyme activity". J. Biol. Chem. 275 (11): 7597–603. PMID 10713067.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hanada K, Hara T, Nishijima M (2000). "Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques". J. Biol. Chem. 275 (12): 8409–15. PMID 10722674.CS1 maint: Multiple names: authors list (link)
• Perry DK, Carton J, Shah AK; et al. (2000). "Serine palmitoyltransferase regulates de novo ceramide generation during etoposide-induced apoptosis". J. Biol. Chem. 275 (12): 9078–84. PMID 10722759.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bejaoui K, Wu C, Scheffler MD; et al. (2001). "SPTLC1 is mutated in hereditary sensory neuropathy, type 1". Nat. Genet. 27 (3): 261–2. doi:10.1038/85817. PMID 11242106.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dawkins JL, Hulme DJ, Brahmbhatt SB; et al. (2001). "Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.". Nat. Genet. 27 (3): 309–12. doi:10.1038/85879. PMID 11242114.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nicholson GA, Dawkins JL, Blair IP; et al. (2001). "Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe". Am. J. Hum. Genet. 69 (3): 655–9. PMID 11479835.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stachowitz S, Alessandrini F, Abeck D; et al. (2003). "Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis". J. Invest. Dermatol. 119 (5): 1048–52. doi:10.1046/j.1523-1747.2002.19524.x. PMID 12445191.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• CAMPBELL AM, HOFFMAN HL (1996). "SENSORY RADICULAR NEUROPATHY ASSOCIATED WITH MUSCLE WASTING IN TWO CASES". Brain. 87: 67–74. PMID 14152213.
• Verhoeven K, Coen K, De Vriendt E; et al. (2004). "SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.". Neurology. 62 (6): 1001–2. PMID 15037712.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Humphray SJ, Oliver K, Hunt AR; et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMID 15164053.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dedov VN, Dedova IV, Nicholson GA (2006). "Hypoxia causes aggregation of serine palmitoyltransferase followed by non-apoptotic death of human lymphocytes". Cell Cycle. 3 (10): 1271–7. PMID 15467453.CS1 maint: Multiple names: authors list (link)
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McCampbell A, Truong D, Broom DC; et al. (2006). "Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy". Hum. Mol. Genet. 14 (22): 3507–21. doi:10.1093/hmg/ddi380. PMID 16210380.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chen M, Han G, Dietrich CR; et al. (2007). "The essential nature of sphingolipids in plants as revealed by the functional identification and characterization of the Arabidopsis LCB1 subunit of serine palmitoyltransferase". Plant Cell. 18 (12): 3576–93. doi:10.1105/tpc.105.040774. PMID 17194770.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hornemann T, Wei Y, von Eckardstein A (2007). "Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?". Biochem. J. 405 (1): 157–64. doi:10.1042/BJ20070025. PMID 17331073.CS1 maint: Multiple names: authors list (link)
• Ewing RM, Chu P, Elisma F; et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3: 89. doi:10.1038/msb4100134. PMID 17353931.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)