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FLASH GENE
Symbol KDSR contributors: mct - updated : 05-07-2017
HGNC name 3-ketodihydrosphingosine reductase
HGNC id 4021
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal membrane-spanning domain in KDSR (absent in Tsc10p) oriented to place it in the endoplasmic reticulum (ER) lumen
    • HOMOLOGY
    intraspecies homolog to yeast Tsc10p
    Homologene
    FAMILY short-chain dehydrogenases/reductases (SDR) family
    CATEGORY enzyme , protooncogene
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • catalyzing the reduction of 3-ketodihydrosphingosine to dihydrosphingosine in the cytosolic side of the endoplasmic reticulum membrane
  • is critical to the creation of ceramides via de novo synthesis but is not intrinsic to the other two pathways
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
  • sphingolipid biosynthesis
  • ceramide synthesis pathway
    • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    involved in t(2;18)(p11;q21) with follicular leukemia (see also BCL2)
    tumoral     --low  
    by germinal center-type diffuse large B-cell lymphoma (DLBCL) when compared with non-germinal center-type DLBCL, follicular lymphoma, and normal tonsil control samples
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS