SPTLC2

Serine palmitoyltransferase, long chain base subunit 2
Identifiers
Symbols	SPTLC2 ; HSN1C; LCB2; LCB2A; NSAN1C; SPT2; hLCB2a
External IDs	OMIM: 605713 MGI: 108074 HomoloGene: 21610 ChEMBL: 1250344 GeneCards: SPTLC2 Gene
EC number	2.3.1.50
Gene ontology Molecular function • serine C-palmitoyltransferase activity • pyridoxal phosphate binding Cellular component • mitochondrion • endoplasmic reticulum membrane • integral component of membrane • serine C-palmitoyltransferase complex Biological process • sphingolipid metabolic process • sphingomyelin biosynthetic process • sphingolipid biosynthetic process • small molecule metabolic process • sphinganine biosynthetic process • sphingosine biosynthetic process • ceramide biosynthetic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	9517	20773
Ensembl	ENSG00000100596	ENSMUSG00000021036
UniProt	O15270	P97363
RefSeq (mRNA)	NM_004863	NM_011479
RefSeq (protein)	NP_004854	NP_035609
Location (UCSC)	Chr 14: 77.51 – 77.62 Mb	Chr 12: 87.31 – 87.39 Mb
PubMed search

Serine palmitoyltransferase, long chain base subunit 2, also known as SPTLC2, is a protein which in humans is encoded by the SPTLC2 gene.^[1][2][3]

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal 5'-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. "Entrez Gene: SPTLC2 serine palmitoyltransferase, long chain base subunit 2".
2. Nagiec MM, Lester RL, Dickson RC (October 1996). "Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase". Gene 177 (1–2): 237–41. doi:10.1016/0378-1119(96)00309-5. PMID 8921873.
3. Weiss B, Stoffel W (October 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. doi:10.1111/j.1432-1033.1997.00239.x. PMID 9363775.

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. doi:10.1093/hmg/2.11.1793. 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. doi:10.1101/gr.6.9.807. 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. doi:10.1016/0378-1119(96)00309-5. 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. doi:10.1111/j.1432-1033.1997.00239.x. 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. doi:10.1093/dnares/5.1.31. 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. doi:10.1074/jbc.275.12.8409. 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. doi:10.1073/pnas.97.7.3491. PMC 16267. 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. doi:10.1016/S0960-8966(02)00015-9. 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. PMC 139241. 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. PMC 528928. 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. PMC 1785403. 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. PMC 1925250. PMID 17331073.