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3-dehydrosphinganine reductase

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(Redirected from KDSR (gene))
3-dehydrosphinganine reductase
Identifiers
EC no.1.1.1.102
CAS no.37250-36-5
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
Search
PMCarticles
PubMedarticles
NCBIproteins
KDSR
Identifiers
AliasesKDSR, Kdsr, 6330410P18Rik, 9430079B08Rik, Fvt1, DHSR, SDR35C1, 3-ketodihydrosphingosine reductase, 3-dehydrosphinganine reductase, EKVP4
External IDsOMIM: 136440; MGI: 1918000; HomoloGene: 1539; GeneCards: KDSR; OMA:KDSR - orthologs
EC number1.1.1.102
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002035

NM_027534
NM_001316750

RefSeq (protein)

NP_002026

NP_001303679
NP_081810

Location (UCSC)Chr 18: 63.33 – 63.37 MbChr 1: 106.65 – 106.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6][7][8][9]

Function

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3-dehydrosphinganine reductase catalyzes the chemical reaction:

sphinganine + NADP+ 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

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Follicular lymphoma variant translocation 1 is a secreted protein which is weakly expressed in hematopoietic tissue.

Clinical significance

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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.[9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119537Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000009905Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Rimokh R, Gadoux M, Berthéas MF, Berger F, Garoscio M, Deléage G, Germain D, Magaud JP (January 1993). "FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma". Blood. 81 (1): 136–42. doi:10.1182/blood.V81.1.136.136. PMID 8417785.
  6. ^ Kihara A, Igarashi Y (November 2004). "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. doi:10.1074/jbc.M405915200. PMID 15328338.
  7. ^ Krebs S, Medugorac I, Röther S, Strässer K, Förster M (April 2007). "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. Bibcode:2007PNAS..104.6746K. doi:10.1073/pnas.0607721104. PMC 1868895. PMID 17420465.
  8. ^ Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jörnvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (March 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chemico-Biological Interactions. 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
  9. ^ a b "Entrez Gene: FVT1 follicular lymphoma variant translocation 1".
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Further reading

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