3-脫氫鞘氨酸還原酶

3-脫氫鞘氨酸還原酶
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
基因本體論描述
分子功能	· nucleotide binding; · 3-dehydrosphinganine reductase activity;
細胞成分	· extracellular space; · endoplasmic reticulum; · endoplasmic reticulum membrane; · integral to membrane;
生物過程	· sphingolipid metabolic process; · 3-keto-sphinganine metabolic process; · sphingolipid biosynthetic process; · small molecule metabolic process;
	Sources: Amigo / QuickGO
RNA表達模式
	更多表達數據
直系同源體
物種	人類
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查詢	[1]
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3-脫氫鞘氨酸還原酶
命名
系統命名	D-erythro-dihydrosphingosine:NADP+ 3-oxidoreductase
縮寫	KDSR; FVT1
別名	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
識別碼
EC編號	1.1.1.102
CAS號	37250-36-5
數據庫
IntEnz	IntEnz瀏覽
BRENDA（英語：BRENDA）	BRENDA入口
ExPASy（英語：ExPASy）	NiceZyme瀏覽
KEGG	KEGG入口
MetaCyc（英語：MetaCyc）	代謝路徑
PRIAM（英語：PRIAM_enzyme-specific_profiles）	概述
PDB	RCSB PDB PDBj PDBe PDBsum
基因本體	AmiGO / EGO
搜索
PMC	相關文獻
PubMed	相關文獻

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，存於互聯網檔案館））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：

鞘氨酸 + NADP⁺

\rightleftharpoons

3-脫氫鞘氨酸 + NADPH + H⁺

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.

[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]

閱論編氧化還原酶：以CH-OH基團為供體的氧化還原酶類（EC 1.1）
1.1.1：以NAD或NADP為受體	醇脫氫酶 · 醛酮還原酶（1A1、1B1、1B10、1C1、1C3、1C4、7A2） · 醛糖還原酶 · 糖類脫氫酶 · 肉鹼脫氫酶 · DXP還原異構酶 · 葡萄糖-6-磷酸脫氫酶 · 甘油-3-磷酸脫氫酶 · HMG-CoA還原酶 · 3-羥酰輔酶A脫氫酶 · β-羥基丁酰輔酶A脫氫酶 · 異檸檬酸脫氫酶 · 單磷酸次黃嘌呤核苷酸脫氫酶 · β-酮脂酰-ACP還原酶 · 乳酸鹽脫氫酶 · 蘋果酸脫氫酶 · 磷酸葡萄糖酸脫氫酶 · L-蘇氨酸脫氫酶 · L-木酮糖還原酶 · 山梨醇脫氫酶 · 奎尼酸脫氫酶羥基類固醇脫氫酶：3-β（3-β-HSD、固醇-4-α-羧酸鹽- 3-脫氫酶） · 11-β（11β-羥基類固醇脫氫酶1型、11-β-羥基類固醇脫氫酶2型） · 17-β
1.1.2：以細胞色素為受體	D-乳酸鹽脫氫酶 (細胞色素) · D-乳酸鹽脫氫酶 (細胞色素c-553) · 甘露醇脫氫酶 (細胞色素)
1.1.3：以氧氣為受體	葡萄糖氧化酶 · L-古洛糖酸內酯氧化酶 · 黃嘌呤氧化酶
1.1.4：以二硫化物為受體	維生素K環氧化物還原酶 · 維生素K環氧化物還原酶 (對華法林不敏感)
1.1.5：以醌類似化合物為受體	醌蛋白葡萄糖脫氫酶
1.1.99：以其他物質為受體	膽鹼脫氫酶 · L-2-羥基戊二酸脫氫酶
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（英語：Template:Ligases CO CS and CN）/4/5-6