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
    Physical map
    IL17 2q31 interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8) IL17F 6p12 interleukin 17F SLC25A20P 6p12 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene MCM3 6p12 MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) C6orf33 6p12.1 chromosome 6 open reading frame 33 EFHC1 6p12.1 EF-hand domain (C-terminal) containing 1 TRAM2 6p21.3 translocation associated membrane protein 2 TMEM14A 6p12.3 transmembrane protein 14A LOC391927 6 similar to class-alpha glutathione S-transferase LOC391928 6 similar to Glutathione S-transferase A1 (GTH1) (HA subunit 1) (GST-epsilon) (GSTA1-1) (GST class-alpha) GSTA2 6p12.2 glutathione S-transferase A2 LOC391929 6 similar to glutathione transferase (EC 2.5.1.18) alpha-3 [similarity] - human GSTA1 6p12.2 glutathione S-transferase A1 GSTAP1 6p12.2 glutathione S-transferase A pseudogene 1 GSTA5 6p12.1 glutathione S-transferase A5 FLJ32293 6p12.3 hypothetical protein FLJ32293 GSTA3 6p12 glutathione S-transferase A3 GSTA4 6p12 glutathione S-transferase A4 RN7SK 6pter-p25 RNA, 7SK, nuclear ICK 6p12.3-p11.2 intestinal cell (MAK-like) kinase FBXO9 6p12.3-p11.2 F-box only protein 9 GCM1 6p21-p12 glial cells missing homolog 1 (Drosophila) LOC389398 6 LOC389398 ELOVL5 6p21.1-p12.1 ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) LOC391930 6 similar to ribosomal protein L31 LOC391931 6 similar to replication protein A3, 14kDa; replication protein A3 (14kD) GCLC 6p12 glutamate-cysteine ligase, catalytic subunit LOC391932 6 similar to bA345L23.2 (novel protein with BTB/POZ (broad complex Tramtrack bric-a-brac/Pox virus and zinc finger) domain) LRRC1 6p12.1 leucine-rich repeat-containing 1 C6orf142 6p12.2-p12.1 chromosome 6 open reading frame 142
    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