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 reductaseEC 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+NADP+受体、作用于供体CH-OH基团上的氧化还原酶。这种催化以下酶促反应

3-脱氢鞘氨酸还原酶
识别码
EC编号 1.1.1.102
CAS号 37250-36-5
数据库
IntEnz IntEnz浏览
BRENDA英语BRENDA BRENDA入口
ExPASy英语ExPASy NiceZyme浏览
KEGG KEGG入口
MetaCyc英语MetaCyc 代谢路径
PRIAM英语PRIAM_enzyme-specific_profiles 概述
PDB RCSB PDB PDBj PDBe PDBsum
基因本体 AmiGO / EGO
3-脱氢鞘氨酸还原酶
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
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]
鞘氨酸 + NADP+ 3-脱氢鞘氨酸 + NADPH + H+

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

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  1. ^ 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. 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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. 

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