SPTLC1

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Serinska palmitoiltransferaza, dugolančana bazna podjedinica 1
Identifikatori
SimboliSPTLC1; HSAN; HSAN1; HSN1; LBC1; LCB1; SPT1; SPTI; hLCB1
Vanjski IDOMIM: 605712 MGI: 1099431 HomoloGene: 4681 GeneCards: SPTLC1 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
Ortolozi
VrstaČovekMiš
Entrez10558268656
EnsemblENSG00000090054ENSMUSG00000021468
UniProtO15269O35704
RefSeq (mRNA)NM_006415NM_009269
RefSeq (protein)NP_006406NP_033295
Lokacija (UCSC)Chr 9:
94.79 - 94.88 Mb		Chr 13:
53.33 - 53.38 Mb
PubMed pretraga[1][2]

Serinska palmitoiltransferaza, dugolančana bazna podjedinica 1 (SPTLC1) je protein koji je kod čoveka kodiran SPTLC1 genom.[1][2]

Seriniska palmitoiltransferaza, koja se sastoji od dve različite podjedinice, je inicijalni enzim u sfingolipidnoj biosintezi. Ona konvertuje L-serin i palmitoil KoA u 3-oksosfinganin koristeći piridoksal 5'-fosfat kao kofaktor. Produkt ovog gena dugolančana bazna podjecinica 1 serinske palmitoiltransferaze. Mutaticije ovog gena su identifikovane kod pacijenata sa naslednom senzornom neuropatijom tipa 1. Alternativno splajsovane varijante koje kodiraju različite izoforme su poznate.[1]

Reference

  1. ↑ 1,0 1,1 „Entrez Gene: SPTLC1 serine palmitoyltransferase, long chain base subunit 1”. 
  2. ↑ 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

  • 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. 
  • Gable K, Slife H, Bacikova D, et al. (2000). „Tsc3p is an 80-amino acid protein associated with serine palmitoyltransferase and required for optimal enzyme activity.”. J. Biol. Chem. 275 (11): 7597–603. DOI:10.1074/jbc.275.11.7597. PMID 10713067. 
  • 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. 
  • Perry DK, Carton J, Shah AK, et al. (2000). „Serine palmitoyltransferase regulates de novo ceramide generation during etoposide-induced apoptosis.”. J. Biol. Chem. 275 (12): 9078–84. DOI:10.1074/jbc.275.12.9078. PMID 10722759. 
  • Bejaoui K, Wu C, Scheffler MD, et al. (2001). „SPTLC1 is mutated in hereditary sensory neuropathy, type 1.”. Nat. Genet. 27 (3): 261–2. DOI:10.1038/85817. PMID 11242106. 
  • Dawkins JL, Hulme DJ, Brahmbhatt SB, et al. (2001). „Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.”. Nat. Genet. 27 (3): 309–12. DOI:10.1038/85879. PMID 11242114. 
  • Nicholson GA, Dawkins JL, Blair IP, et al. (2001). „Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.”. Am. J. Hum. Genet. 69 (3): 655–9. DOI:10.1086/323252. PMC 1235494. PMID 11479835. 
  • 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. 
  • CAMPBELL AM, HOFFMAN HL (1996). „SENSORY RADICULAR NEUROPATHY ASSOCIATED WITH MUSCLE WASTING IN TWO CASES.”. Brain 87: 67–74. DOI:10.1093/brain/87.1.67. PMID 14152213. 
  • Verhoeven K, Coen K, De Vriendt E, et al. (2004). „SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.”. Neurology 62 (6): 1001–2. PMID 15037712. 
  • Humphray SJ, Oliver K, Hunt AR, et al. (2004). „DNA sequence and analysis of human chromosome 9.”. Nature 429 (6990): 369–74. DOI:10.1038/nature02465. PMC 2734081. PMID 15164053. 
  • Dedov VN, Dedova IV, Nicholson GA (2006). „Hypoxia causes aggregation of serine palmitoyltransferase followed by non-apoptotic death of human lymphocytes.”. Cell Cycle 3 (10): 1271–7. PMID 15467453. 
  • 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. 
  • McCampbell A, Truong D, Broom DC, et al. (2006). „Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.”. Hum. Mol. Genet. 14 (22): 3507–21. DOI:10.1093/hmg/ddi380. PMID 16210380. 
  • 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. 
  • Ewing RM, Chu P, Elisma F, et al. (2007). „Large-scale mapping of human protein-protein interactions by mass spectrometry.”. Mol. Syst. Biol. 3 (1): 89. DOI:10.1038/msb4100134. PMC 1847948. PMID 17353931. 

Spoljašnje veze

  • GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory Neuropathy Type I
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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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