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FLASH GENE
Symbol ELOVL5 contributors: mct - updated : 16-12-2021
HGNC name ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)
HGNC id 21308
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • single histidine rich domain
  • six transmembrane spanning domains
    • HOMOLOGY
    interspecies ortholog to Elovl5, Rattus norvegicus
    ortholog to Elovl5, Mus musculus
    ortholog to elovl5, Danio rerio
    Homologene
    FAMILY
  • multigenic family of genes encoding elongase
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • in the endoplasmic reticulum
    • basic FUNCTION
  • involved in the biosynthesis of very long chain fatty acids and in the pathogenesis of macular degeneration
  • implicated in the elongation of long chain fatty acids, including docosahexanoic acid (DHA), which constitutes 50p100 of the fatty acids of the outer segment of the photoreceptor
  • elongase involved in the synthesis of polyunsaturated fatty acids of the omega3 and omega6 series
  • is involved in the determination of embryonic lipid content and composition 33525659)
  • enzyme that elongates long chain fatty acids, with a marked preference for polyunsaturated molecules
  • it plays an essential role in the elongation of omega-3 and omega-6 fatty acids, precursors for long-chain polyunsaturated fatty acids (PUFAs)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ELOVL5 is an SREBF1 target gene and an important component of the negative feedback loop of de novo lipogenesis
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA38
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
      fusion      
    fused with MLL in acute myelogemous leukemia
    tumoral     --over  
    in mesenchymal-type gastric cancer cells (GCs), leading to ferroptosis sensitization
    Susceptibility
    Variant & Polymorphism rs735860 associated with primary open-angle glaucoma (
    Candidate gene
    Marker
  • epigenetic biomarker for the risk of type 2 diabetes mellitus
    • Therapy target
    ANIMAL & CELL MODELS
  • Elovl5 expression was increased in cellular and mouse models of induced obesity-related diabetes