Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ELOVL5 contributors: npt/shn - updated : 15-02-2012
HGNC name ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)
HGNC id 21308
Corresponding disease
SCA38 spinocerebellar ataxia-38
Location 6p12.2      Physical location : 53.132.195 - 53.213.942
Synonym name
  • 3-keto acyl-CoA synthase ELOVL5
  • ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)
  • elongation of very long chain fatty acids protein 5
  • fatty acid elongase 1
  • homolog of yeast long chain polyunsaturated fatty acid elongatio
  • homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2
  • Synonym symbol(s) RP3-483K16.1, DJ483K16.1, HELO1
    DNA
    TYPE functioning gene
    STRUCTURE 81.78 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D6S1714 - D6S1956 - ELOVL5 - D6S1623 - D6S1960 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 3038 - 299 - -
    7 splicing 2913 - 262 - -
    9 splicing 3119 - 326 - -
    3 splicing 849 - 88 - -
    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
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    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
    Susceptibility
    Variant & Polymorphism rs735860 associated with primary open-angle glaucoma (
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS