Biology:3-dehydrosphinganine reductase
| 3-dehydrosphinganine reductase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| EC number | 1.1.1.102 | ||||||||
| CAS number | 37250-36-5 | ||||||||
| Databases | |||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
| |||||||||
 Generic protein structure example |
3-dehydrosphinganine reductase (EC 1.1.1.102) also known as 3-ketodihydrosphingosine reductase (KDSR) or follicular variant translocation protein 1 (FVT1) is an enzyme that in humans is encoded by the KDSR gene.[1][2][3][4][5]
Function
3-dehydrosphinganine reductase catalyzes the chemical reaction:
- sphinganine + NADP+ [math]\displaystyle{ \rightleftharpoons }[/math] 3-dehydrosphinganine + NADPH + H+
Thus, the two substrates of this enzyme are sphinganine and NADP+, whereas its 3 products are 3-dehydrosphinganine, NADPH, and H+.
This enzyme belongs to the family of oxidoreductases, specifically those acting on the CH-OH group of donor with NAD+ or NADP+ as acceptor. This enzyme participates in sphingolipid metabolism.
Tissue distribution
Follicular lymphoma variant translocation 1 is a secreted protein which is weakly expressed in hematopoietic tissue.
Clinical significance
FVT1 shows a high rate of transcription in some T cell malignancies and in phytohemagglutinin-stimulated lymphocytes. The proximity of FVT1 to BCL2 suggests that it may participate in the tumoral process.[5]
References
- ↑ "FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma". Blood 81 (1): 136–42. January 1993. doi:10.1182/blood.V81.1.136.136. PMID 8417785.
- ↑ "FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane". The Journal of Biological Chemistry 279 (47): 49243–50. November 2004. doi:10.1074/jbc.M405915200. PMID 15328338.
- ↑ "A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy". Proceedings of the National Academy of Sciences of the United States of America 104 (16): 6746–51. April 2007. doi:10.1073/pnas.0607721104. PMID 17420465. Bibcode: 2007PNAS..104.6746K.
- ↑ "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chemico-Biological Interactions 178 (1–3): 94–8. March 2009. doi:10.1016/j.cbi.2008.10.040. PMID 19027726.
- ↑ 5.0 5.1 "Entrez Gene: FVT1 follicular lymphoma variant translocation 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2531.
External links
- Human KDSR genome location and KDSR gene details page in the UCSC Genome Browser.
Further reading
- "[Assessment of five thrombophilic genetic polymorphisms among couples with habitual abortion]". Gaceta Médica de México 142 (2): 95–8. 2006. PMID 16711541.
- "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)". Diagnostic Molecular Pathology 12 (3): 174–80. September 2003. doi:10.1097/00019606-200309000-00009. PMID 12960700.
- "B-cell non-Hodgkin's lymphoma cell line (Karpas 1106) with complex translocation involving 18q21.3 but lacking BCL2 rearrangement and expression". Blood 84 (10): 3422–8. November 1994. doi:10.1182/blood.V84.10.3422.3422. PMID 7949096.
- "Biosynthesis of dihydrosphingosine in vitro". Hoppe-Seyler's Zeitschrift für Physiologische Chemie 349 (5): 664–70. May 1968. doi:10.1515/bchm2.1968.349.1.664. PMID 4386961.
- "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-Seyler's Zeitschrift für Physiologische Chemie 349 (12): 1637–44. December 1968. doi:10.1515/bchm2.1968.349.2.1637. PMID 4387676.
 |  |
