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 | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| 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
- ^ а б „Entrez Gene: SPTLC2 serine palmitoyltransferase, long chain base subunit 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.
- ^ 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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- 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. PMID 8889549. doi:10.1101/gr.6.9.807.
- 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.
- 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. PMID 10722674. doi:10.1074/jbc.275.12.8409.
- 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. PMC 16267
. PMID 10737800. doi:10.1073/pnas.97.7.3491. - 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. PMID 12207934. doi:10.1016/S0960-8966(02)00015-9.
- 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.
- 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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Heilig R; Eckenberg R; Petit JL; et al. (2003). „The DNA sequence and analysis of human chromosome 14”. Nature. 421 (6923): 601—7. PMID 12508121. doi:10.1038/nature01348.
- 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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- 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. PMID 16189514. doi:10.1038/nature04209.
- 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. PMID 17081983. doi:10.1016/j.cell.2006.09.026.
- 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. PMC 1785403 . PMID 17194770. doi:10.1105/tpc.105.040774.
- Hornemann T, Wei Y, von Eckardstein A (2007). „Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?”. Biochem. J.. 405 (1): 157—64. PMC 1925250 . PMID 17331073. doi:10.1042/BJ20070025.
- Nicholas C. Price; Lewis Stevens (1999). Fundamentals of Enzymology: The Cell and Molecular Biology of Catalytic Proteins (Third изд.). USA: Oxford University Press. ISBN 019850229X.
- Eric J. Toone (2006). Advances in Enzymology and Related Areas of Molecular Biology, Protein Evolution (Volume 75 изд.). Wiley-Interscience. ISBN 0471205036.
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- Irwin H. Segel. Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State Enzyme Systems (Book 44 изд.). Wiley Classics Library. ISBN 0471303097.
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