“SPTLC2”的意思、由来-开放百科全书

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. ^¹{{cite web | title = Entrez Gene: SPTLC2 serine palmitoyltransferase, long chain base subunit 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9517| accessdate = }}
2. ^{{cite journal | vauthors = Nagiec MM, Lester RL, Dickson RC | title = Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase | journal = Gene | volume = 177 | issue = 1-2 | pages = 237–41 | date = October 1996 | pmid = 8921873 | doi = 10.1016/0378-1119(96)00309-5 }}
3. ^{{cite journal | vauthors = Weiss B, Stoffel W | title = Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis | journal = European Journal of Biochemistry / FEBS | volume = 249 | issue = 1 | pages = 239–47 | date = October 1997 | pmid = 9363775 | doi = 10.1111/j.1432-1033.1997.00239.x }}

Further reading

{{cite journal | vauthors = Takeda J, Yano H, Eng S, Zeng Y, Bell GI | title = A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones | journal = Human Molecular Genetics | volume = 2 | issue = 11 | pages = 1793–8 | date = November 1993 | pmid = 7506601 | doi = 10.1093/hmg/2.11.1793 }}

{{cite journal | vauthors = Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, Dietrich N, DuBuque T, Favello A, Gish W, Hawkins M, Hultman M, Kucaba T, Lacy M, Le M, Le N, Mardis E, Moore B, Morris M, Parsons J, Prange C, Rifkin L, Rohlfing T, Schellenberg K, Bento Soares M, Tan F, Thierry-Meg J, Trevaskis E, Underwood K, Wohldman P, Waterston R, Wilson R, Marra M | title = Generation and analysis of 280,000 human expressed sequence tags | journal = Genome Research | volume = 6 | issue = 9 | pages = 807–28 | date = September 1996 | pmid = 8889549 | doi = 10.1101/gr.6.9.807 }}

{{cite journal | vauthors = Nagiec MM, Lester RL, Dickson RC | title = Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase | journal = Gene | volume = 177 | issue = 1-2 | pages = 237–41 | date = October 1996 | pmid = 8921873 | doi = 10.1016/0378-1119(96)00309-5 }}

{{cite journal | vauthors = Weiss B, Stoffel W | title = Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis | journal = European Journal of Biochemistry / FEBS | volume = 249 | issue = 1 | pages = 239–47 | date = October 1997 | pmid = 9363775 | doi = 10.1111/j.1432-1033.1997.00239.x }}

{{cite journal | vauthors = Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Research | volume = 5 | issue = 1 | pages = 31–9 | date = February 1998 | pmid = 9628581 | doi = 10.1093/dnares/5.1.31 }}

{{cite journal | vauthors = 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 = The Journal of Biological Chemistry | volume = 275 | issue = 12 | pages = 8409–15 | date = March 2000 | pmid = 10722674 | doi = 10.1074/jbc.275.12.8409 }}

{{cite journal | vauthors = Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ | title = Shotgun sequencing of the human transcriptome with ORF expressed sequence tags | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 7 | pages = 3491–6 | date = March 2000 | pmid = 10737800 | pmc = 16267 | doi = 10.1073/pnas.97.7.3491 }}

{{cite journal | vauthors = Dawkins JL, Brahmbhatt S, Auer-Grumbach M, Wagner K, Hartung HP, Verhoeven K, Timmerman V, De Jonghe P, Kennerson M, LeGuern E, Nicholson GA | title = Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy | journal = Neuromuscular Disorders | volume = 12 | issue = 7-8 | pages = 656–8 | date = October 2002 | pmid = 12207934 | doi = 10.1016/S0960-8966(02)00015-9 }}

{{cite journal | vauthors = Stachowitz S, Alessandrini F, Abeck D, Ring J, Behrendt H | title = Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis | journal = The Journal of Investigative Dermatology | volume = 119 | issue = 5 | pages = 1048–52 | date = November 2002 | pmid = 12445191 | doi = 10.1046/j.1523-1747.2002.19524.x }}

{{cite journal |authorlink30=Huda Zoghbi| vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = October 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}

{{cite journal | vauthors = Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–48 | date = November 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 }}

{{cite journal | vauthors = Chen M, Han G, Dietrich CR, Dunn TM, Cahoon EB | 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 = The Plant Cell | volume = 18 | issue = 12 | pages = 3576–93 | date = December 2006 | pmid = 17194770 | pmc = 1785403 | doi = 10.1105/tpc.105.040774 }}

{{cite journal | vauthors = Hornemann T, Wei Y, von Eckardstein A | title = Is the mammalian serine palmitoyltransferase a high-molecular-mass complex? | journal = The Biochemical Journal | volume = 405 | issue = 1 | pages = 157–64 | date = July 2007 | pmid = 17331073 | pmc = 1925250 | doi = 10.1042/BJ20070025 }}