SPTLC2

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Serine palmitoyltransferase, long chain base subunit 2
Identifiers
Symbols SPTLC2 ; KIAA0526; LCB2; SPT2
External IDs Template:OMIM5 Template:MGI HomoloGene21610
RNA expression pattern
File:PBB GE SPTLC2 203127 s at tn.png
File:PBB GE SPTLC2 203128 at tn.png
More reference expression data
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 2, also known as SPTLC2, is a human gene.[1]

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. Alternatively spliced variants encoding different isoforms have been identified.[1]

References

  1. 1.0 1.1 "Entrez Gene: SPTLC2 serine palmitoyltransferase, long chain base subunit 2".

Further reading

  • Takeda J, Yano H, Eng S; et al. (1994). "A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones". Hum. Mol. Genet. 2 (11): 1793–8. PMID 7506601.
  • Hillier LD, Lennon G, Becker M; et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. PMID 8889549.
  • Nagiec MM, Lester RL, Dickson RC (1996). "Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase". Gene. 177 (1–2): 237–41. PMID 8921873.
  • 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.
  • Nagase T, Ishikawa K, Miyajima N; et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. PMID 9628581.
  • 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.
  • Dias Neto E, Correa RG, Verjovski-Almeida S; et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. PMID 10737800.
  • Dawkins JL, Brahmbhatt S, Auer-Grumbach M; et al. (2002). "Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy". Neuromuscul. Disord. 12 (7–8): 656–8. PMID 12207934.
  • 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.
  • 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.
  • Heilig R, Eckenberg R, Petit JL; et al. (2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601–7. doi:10.1038/nature01348. PMID 12508121.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • 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.
  • Olsen JV, Blagoev B, Gnad F; et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
  • 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.
  • 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.

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