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 / EGO
3-ketodihydrosphingosine reductase
Identifiers
Symbols KDSR; DHSR; FLJ36555; FLJ92680; FVT1; SDR35C1
External IDs OMIM: 136440 MGI: 1918000 HomoloGene: 1539 GeneCards: KDSR Gene
EC number 1.1.1.102
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 2531 70750
Ensembl ENSG00000119537 ENSMUSG00000009905
UniProt Q06136 Q3TDR0
RefSeq (mRNA) NM_002035 NM_027534.2
RefSeq (protein) NP_002026 NP_081810.1
Location (UCSC) Chr 18:
60.99 – 61.03 Mb		 Chr 1:
108.62 – 108.66 Mb
PubMed search [1] [2]

3-dehydrosphinganine reductase 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]

Contents

Function

3-dehydrosphinganine reductase catalyzes the chemical reaction:

sphinganine + NADP+ \rightleftharpoons 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

  1. ^ Rimokh R, Gadoux M, Bertheas MF, Berger F, Garoscio M, Deleage G, Germain D, Magaud JP (Feb 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. PMID 8417785. 
  2. ^ Kihara A, Igarashi Y (Nov 2004). "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 279 (47): 49243–50. doi:10.1074/jbc.M405915200. PMID 15328338. 
  3. ^ Krebs S, Medugorac I, Rother S, Strasser K, Forster M (Apr 2007). "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 104 (16): 6746–51. doi:10.1073/pnas.0607721104. PMC 1868895. PMID 17420465. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1868895. 
  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 (Feb 2009). "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chem Biol Interact 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2896744. 
  5. ^ a b "Entrez Gene: FVT1 follicular lymphoma variant translocation 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2531. 

Further reading