3-脱氢鞘氨酸还原酶

3-脱氢鞘氨酸还原酶
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
基因本体论描述
分子功能	· nucleotide binding; · 3-dehydrosphinganine reductase activity;
细胞成分	· extracellular space; · endoplasmic reticulum; · endoplasmic reticulum membrane; · integral to membrane;
生物过程	· sphingolipid metabolic process; · 3-keto-sphinganine metabolic process; · sphingolipid biosynthetic process; · small molecule metabolic process;
	Sources: Amigo / QuickGO
RNA表达模式
	更多表达数据
直系同源体
物种	人类
Entrez	2531
Ensembl	ENSG00000119537
UniProt	Q06136
mRNA序列	NM_002035.2
蛋白序列	NP_002026.1
基因位置	Chr 18:; 60.99 – 61.03 Mb
PubMed查询	[1]
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3-脱氢鞘氨酸还原酶
命名
系统命名	D-erythro-dihydrosphingosine:NADP+ 3-oxidoreductase
缩写	KDSR; FVT1
别名	D-3-dehydrosphinganine reductase; D-3-oxosphinganine reductase; DSR; 3-oxosphinganine reductase; 3-oxosphinganine:NADPH oxidoreductase; D-3-oxosphinganine:B-NADPH oxidoreductase; follicular variant translocation protein 1
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
搜索
PMC	相关文献
PubMed	相关文献

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：

鞘氨酸 + NADP⁺

\rightleftharpoons

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

^ 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

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.

[pmid8417785-1] 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.

[pmid15328338-2] 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.

[pmid17420465-3] 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.

[pmid19027726-4] 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.

[entrez-5] Entrez Gene: FVT1 follicular lymphoma variant translocation 1.

[1]

[2]

[3]

[4]

[5]

查论编氧化还原酶：以CH-OH基团为供体的氧化还原酶类（EC 1.1）
1.1.1：以NAD或NADP为受体	醇脱氢酶 · 醛酮还原酶（1A1、1B1、1B10、1C1、1C3、1C4、7A2） · 醛糖还原酶 · 糖类脱氢酶 · 肉碱脱氢酶 · DXP还原异构酶 · 葡萄糖-6-磷酸脱氢酶 · 甘油-3-磷酸脱氢酶 · HMG-CoA还原酶 · 3-羟酰辅酶A脱氢酶 · β-羟基丁酰辅酶A脱氢酶 · 异柠檬酸脱氢酶 · 单磷酸次黄嘌呤核苷酸脱氢酶 · β-酮脂酰-ACP还原酶 · 乳酸盐脱氢酶 · 苹果酸脱氢酶 · 磷酸葡萄糖酸脱氢酶 · L-苏氨酸脱氢酶 · L-木酮糖还原酶 · 山梨醇脱氢酶 · 奎尼酸脱氢酶羟基类固醇脱氢酶：3-β（3-β-HSD、固醇-4-α-羧酸盐- 3-脱氢酶） · 11-β（11β-羟基类固醇脱氢酶1型、11-β-羟基类固醇脱氢酶2型） · 17-β
1.1.2：以细胞色素为受体	D-乳酸盐脱氢酶 (细胞色素) · D-乳酸盐脱氢酶 (细胞色素c-553) · 甘露醇脱氢酶 (细胞色素)
1.1.3：以氧气为受体	葡萄糖氧化酶 · L-古洛糖酸内酯氧化酶 · 黄嘌呤氧化酶
1.1.4：以二硫化物为受体	维生素K环氧化物还原酶 · 维生素K环氧化物还原酶 (对华法林不敏感)
1.1.5：以醌类似化合物为受体	醌蛋白葡萄糖脱氢酶
1.1.99：以其他物质为受体	胆碱脱氢酶 · L-2-羟基戊二酸脱氢酶
EC 1.1/2/3/4/5/6/7/8/9/10/11/12/13/14/15/16/17/18/19/20/21/22 · 2.1/2/3/4/5/6/7(2.7.10/11-12)/8/9 · 3.1/2/3/4(3.4.21/22/23/24)/5/6/7/8/9/10/11/12/13 · 4.1/2/3/4/5/6 · 5.1/2/3/4/5/99 · 6.1-3（英语：Template:Ligases CO CS and CN）/4/5-6