SPTLC2

From Wikipedia, the free encyclopedia


Serine palmitoyltransferase, long chain base subunit 2
Identifiers
Symbol(s) SPTLC2; KIAA0526; LCB2; SPT2
External IDs OMIM: 605713 MGI: 108074 HomoloGene: 21610
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 9517 20773
Ensembl ENSG00000100596 ENSMUSG00000021036
Uniprot O15270 Q3UT78
Refseq NM_004863 (mRNA)
NP_004854 (protein)		 NM_011479 (mRNA)
NP_035609 (protein)
Location Chr 14: 77.04 - 77.15 Mb Chr 12: 88.2 - 88.28 Mb
Pubmed search [1] [2]

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]

[edit] References

  1. ^ a b Entrez Gene: SPTLC2 serine palmitoyltransferase, long chain base subunit 2.

[edit] 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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v • d • e
Transferases: acyltransferases (EC 2.3)
2.3.1: other than amino-acyl groups
(mostly acetyltransferases)
2.3.2 - Aminoacyltransferases
2.3.3 - converted into alkyl on transfer