SPTLC2

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Serinska palmitoiltransferaza, dugolančana bazna podjedinica 2
Identifikatori
SimboliSPTLC2; HSN1C; LCB2; LCB2A; NSAN1C; SPT2; hLCB2a
Vanjski IDOMIM: 605713 MGI: 108074 HomoloGene: 21610 GeneCards: SPTLC2 Gene
EC broj2.3.1.50
Ontologija gena
Molekularna funkcija • aktivnost serinske C-palmitoiltransferaze
• proteinsko vezivanje
• piridoksal fosfatno vezivanje
Celularna komponenta • membrana endoplazmatičnog retikuluma
• integralno sa membranom
• serinski C-palmitoiltransferazni kompleks
• SPOTS kompleks
Biološki proces • sfingolipidni metabolički proces
• sfingomijelinski biosintetički proces
Pregled RNK izražavanja
podaci
Ortolozi
VrstaČovekMiš
Entrez951720773
EnsemblENSG00000100596ENSMUSG00000021036
UniProtO15270P97363
RefSeq (mRNA)NM_004863NM_011479
RefSeq (protein)NP_004854NP_035609
Lokacija (UCSC)Chr 14:
77.97 - 78.08 Mb		Chr 12:
87.31 - 87.39 Mb
PubMed pretraga[1][2]

Serinska palmitoiltransferaza, dugolančana bazna podjedinica 2 (SPTLC2) protein je koji je čoveka kodiran SPTLC2 genom.[1][2][3]

Ovaj gen kodira dugolančanu baznu podjedinicu serinske palmitoiltransferaze. Serinska palmitoiltransferaza, koja se sastoji od dve različite podjedinice, je inicijalni enzim u sfingolipidnoj biosintezi. Ona katalizuje piridoksal 5'-fosfat zavisnu kondenzaciju L-serina i palmitoil KoA do 3-oksosfinganina. Mutacije ovog gene su identifikovane kod pacijenata sa naslednom senzornom neuropatijom tipa I. Alternativno splajsovane varijante koje kodiraju različite izoforme su poznate.[1]

Reference

  1. ↑ 1,0 1,1 „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. 

Literatura

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  • 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 i dr.. (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 i dr.. (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 i dr.. (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 i dr.. (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 i dr.. (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 i dr.. (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 i dr.. (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 i dr.. (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 i dr.. (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 i dr.. (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. 
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2.3.1: osim amino-acilne grupe2.3.2: Aminoaciltransferaze2.3.3: konverzija u alkil pri transferu
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