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FLASH GENE
Symbol DEGS1 contributors: mct - updated : 27-01-2022
HGNC name degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)
HGNC id 13709
RNA
TRANSCRIPTS type messenger
text Variants 1 and 2 encode the same isoform
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 splicing 2032 37 323 - 2019 31186544
4 splicing 2097 - 288 - 2019 31186544
3 - 2005 - 287 - 2019 31186544
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
three histidine containing consensus motifs
HOMOLOGY
interspecies homolog to Drosophila melanogaster des-1
Homologene
FAMILY spingolipid delta 4 desaturase fgamily
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,organelle,mitochondria
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum
intracellular,cytoplasm,cytosolic,granule
basic FUNCTION
  • inserting double bonds at delta 4 position in fatty acids
  • involvement in cell cycle progression in human neuroblastoma cells
  • enzyme responsible for generating ceramide from its precursor dihydroceramide and thus controling synthesis of the bioactive lipid ceramide
  • is the desaturase catalyzing the last step in the main ceramide biosynthetic pathway
  • catalyses the introduction of a 4,5-trans double bond into dihydroceramide to form ceramide
  • DEGS1 appears to function both as an 'inducer' and 'rectifier' of apoptosis in response to chemical cellular stress
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other oxidative stress leads to potent inhibition of dihydroceramide desaturase resulting in significant elevation in dihydroceramide levels
    pharmacological inhibition of DEGS1 impairs adipocyte differentiation
    ASSOCIATED DISORDERS
    corresponding disease(s) HLD18
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    of DEGS1 or DEGS2 attenuated the dihydroceramide accumulation and increased cell proliferation during hypoxia
    constitutional       loss of function
    is the cause of a sphingolipid disorder with hypomyelination and degeneration of both the central and peripheral nervous systems
    constitutional     --low  
    specifically decreased in the adipose tissue of obese patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    obesity  
    is a new potential target to restore adipose tissue function and prevent obesity-associated metabolic disturbances
    ANIMAL & CELL MODELS