3-脫氫鞘氨酸還原酶
位於18號人類染色體的基因
3-脫氫鞘氨酸還原酶（英語：3-dehydrosphinganine reductase，EC 1.1.1.102（頁面存檔備份，存於網際網路檔案館））也稱為「濾泡變異易位蛋白1」，是一種以NAD+或NADP+為受體、作用於供體CH-OH基團上的氧化還原酶。這種酶能催化以下酶促反應：
| 3-脫氫鞘氨酸還原酶 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
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| 識別碼 | |||||||||
| EC編號 | 1.1.1.102 | ||||||||
| CAS號 | 37250-36-5 | ||||||||
| 資料庫 | |||||||||
| IntEnz | IntEnz瀏覽 | ||||||||
| BRENDA | BRENDA入口 | ||||||||
| ExPASy | NiceZyme瀏覽 | ||||||||
| KEGG | KEGG入口 | ||||||||
| MetaCyc | 代謝路徑 | ||||||||
| PRIAM | 概述 | ||||||||
| PDB | RCSB PDB PDBj PDBe PDBsum | ||||||||
| 基因本體 | AmiGO / EGO | ||||||||
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| 3-脫氫鞘氨酸還原酶 | |||
|---|---|---|---|
| 標識 | |||
| 代號 | KDSR; DHSR; FVT1; SDR35C1 | ||
| 擴展標識 | 遺傳學：136440 鼠基因：1918000 同源基因：1539 GeneCards: KDSR Gene | ||
| EC編號 | 1.1.1.102 | ||
| RNA表達模式 | |||
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| 更多表達數據 | |||
| 直系同源體 | |||
| 物種 | 人類 | 小鼠 | |
| Entrez | 2531 | 70750 | |
| Ensembl | ENSG00000119537 | ENSMUSG00000009905 | |
| UniProt | Q06136 | Q6GV12 | |
| mRNA序列 | NM_002035.2 | NM_027534.2 | |
| 蛋白序列 | NP_002026.1 | NP_081810.1 | |
| 基因位置 |
Chr 18: 60.99 – 61.03 Mb |
Chr 1: 108.62 – 108.66 Mb | |
| PubMed查詢 | [1] | [2] | |
3-脫氫鞘氨酸還原酶主要參與鞘脂（sphingolipid）的代謝過程。人類的3-脫氫鞘氨酸還原酶由18號染色體上的基因KDSR編碼，[1][2][3][4][5]這種蛋白僅在血細胞生成（haematopoiesis）組織中少量表達。
參考文獻
- ^ Rimokh R, Gadoux M, Bertheas MF, Berger F, Garoscio M, Deleage G, Germain D, Magaud JP. FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma. Blood. Feb 1993, 81 (1): 136–42. PMID 8417785.
- ^ Kihara A, Igarashi Y. FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane. J Biol Chem. Nov 2004, 279 (47): 49243–50. PMID 15328338. doi:10.1074/jbc.M405915200.
- ^ Krebs S, Medugorac I, Rother S, Strasser K, Forster M. A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy. Proc Natl Acad Sci U S A. Apr 2007, 104 (16): 6746–51. PMC 1868895
. PMID 17420465. doi:10.1073/pnas.0607721104.
- ^ Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U. The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative. Chem Biol Interact. Feb 2009, 178 (1–3): 94–8. PMC 2896744 . PMID 19027726. doi:10.1016/j.cbi.2008.10.040.
- ^ Entrez Gene: FVT1 follicular lymphoma variant translocation 1.
- Stoffel W, LeKim D, Sticht G. Biosynthesis of dihydrosphingosine in vitro. Hoppe. Seylers. Z. Physiol. Chem. 1968, 349: 664–670. PMID 4386961.
- Stoffel W, LeKim D, Sticht G. Metabolism of sphingosine bases. 8. Distribution, isolation and properties of D-3-oxosphinganine reductase. Stereospecificity of the NADPH-dependent reaction of 3-oxodihydrospingosine (2-amino-1-hydroxyoctadecane-3-one). Hoppe. Seylers. Z. Physiol. Chem. 1968, 349: 1637–1644. PMID 4387676. doi:10.1515/bchm2.1968.349.2.1637.
擴展閱讀
- Quintero-Ramos A; Valdez-Vélázquez LL; Hernández G; et al. Assessment of five thrombophilic genetic polymorphisms among couples with habitual abortion. Gaceta médica de México. 2006, 142 (2): 95–8. PMID 16711541.
- Gerhard DS; Wagner L; Feingold EA; et al. The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC). Genome Res. 2004, 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- Ota T; Suzuki Y; Nishikawa T; et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. 2004, 36 (1): 40–45. PMID 14702039. doi:10.1038/ng1285.
- Wang J; Blakey GL; Zhang L; et al. Uterine tumor resembling ovarian sex cord tumor: report of a case with t(X;6)(p22.3;q23.1) and t(4;18)(q21.1;q21.3). Diagn. Mol. Pathol. 2004, 12 (3): 174–80. PMID 12960700.
- Strausberg RL; Feingold EA; Grouse LH; et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. 2003, 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Nacheva E; Dyer MJ; Metivier C; et al. B-cell non-Hodgkin's lymphoma cell line (Karpas 1106) with complex translocation involving 18q21.3 but lacking BCL2 rearrangement and expression. Blood. 1994, 84 (10): 3422–8. PMID 7949096.