3-脱氢鞘氨酸还原酶
位於18號人類染色體的基因
3-脱氢鞘氨酸还原酶（英语：3-dehydrosphinganine reductase，EC 1.1.1.102（页面存档备份，存于互联网档案馆））也称为“滤泡变异易位蛋白1”，是一种以NAD+或NADP+为受体、作用于供体CH-OH基团上的氧化还原酶。这种酶能催化以下酶促反应：
| 3-脱氢鞘氨酸还原酶 | |||||||||
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| 识别码 | |||||||||
| EC编号 | 1.1.1.102 | ||||||||
| CAS号 | 37250-36-5 | ||||||||
| 数据库 | |||||||||
| IntEnz | IntEnz浏览 | ||||||||
| BRENDA | BRENDA入口 | ||||||||
| ExPASy | NiceZyme浏览 | ||||||||
| KEGG | KEGG入口 | ||||||||
| MetaCyc | 代谢路径 | ||||||||
| PRIAM | 概述 | ||||||||
| PDB | RCSB PDB PDBj PDBe PDBsum | ||||||||
| 基因本体 | AmiGO / EGO | ||||||||
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| 3-脱氢鞘氨酸还原酶 | |||
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| 标识 | |||
| 代号 | KDSR; DHSR; FVT1; SDR35C1 | ||
| 扩展标识 | 遗传学：136440 鼠基因：1918000 同源基因：1539 GeneCards: KDSR Gene | ||
| EC编号 | 1.1.1.102 | ||
| RNA表达模式 | |||
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| 更多表达数据 | |||
| 直系同源体 | |||
| 物种 | 人类 | 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查询 | [1] | [2] | |
3-脱氢鞘氨酸还原酶主要参与鞘脂（sphingolipid）的代谢过程。人类的3-脱氢鞘氨酸还原酶由18号染色体上的基因KDSR编码，[1][2][3][4][5]这种蛋白仅在血细胞生成（haematopoiesis）组织中少量表达。
参考文献
编辑- ^ 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.
扩展阅读
编辑- 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.