SPTLC2

Serinska palmitoiltransferaza, dugolančana bazna podjedinica 2
Identifikatori
Simboli SPTLC2; HSN1C; LCB2; LCB2A; NSAN1C; SPT2; hLCB2a
Vanjski ID OMIM: 605713 MGI: 108074 HomoloGene: 21610 GeneCards: SPTLC2 Gene
EC broj 2.3.1.50
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
Vrsta Čovek Miš
Entrez 9517 20773
Ensembl ENSG00000100596 ENSMUSG00000021036
UniProt O15270 P97363
RefSeq (mRNA) NM_004863 NM_011479
RefSeq (protein) NP_004854 NP_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. ^ а б „Entrez Gene: SPTLC2 serine palmitoyltransferase, long chain base subunit 2”. 
  2. ^ 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. doi:10.1016/0378-1119(96)00309-5. 
  3. ^ 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. doi:10.1111/j.1432-1033.1997.00239.x. 

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. PMID 8921873. doi:10.1016/0378-1119(96)00309-5. 
  • 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. doi:10.1111/j.1432-1033.1997.00239.x. 
  • 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. doi:10.1093/dnares/5.1.31. 
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  • 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. PMID 12445191. doi:10.1046/j.1523-1747.2002.19524.x. 
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Spoljašnje veze

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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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