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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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 splicing 3038 - 299 - 2000 10970790
7 splicing 2913 - 262 - 2000 10970790
9 splicing 3119 - 326 - 2000 10970790
3 splicing 849 - 88 - 2000 10970790
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus   highly
Digestivemouth   highly
Nervousbrainhindbraincerebellum predominantly Homo sapiens
 nerve   predominantly Homo sapiens
Reproductivemale systemtestis  highly
Respiratorylung   predominantly Homo sapiens
Urinarybladder   highly
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousglia Homo sapiens
Nervousoligodendrocyte Homo sapiens
NervousPurkinje cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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