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FLASH GENE
Symbol KDSR contributors: mct - updated : 05-07-2017
HGNC name 3-ketodihydrosphingosine reductase
HGNC id 4021
DNA
TYPE functioning gene
STRUCTURE 39.54 kb     10 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 5198 - 332 - 2004 15328338
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
 stomach   highly
Reproductivefemale systembreastmammary gland highly
Respiratoryrespiratory tractlarynx  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticmature hematopoietic
cell lineage
cell lines
fluid/secretion
at STAGE
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