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FLASH GENE
Symbol ELOVL1 contributors: mct - updated : 16-11-2021
HGNC name elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1
HGNC id 14418
DNA
TYPE functioning gene
STRUCTURE 4.61 kb     7 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 1275 - 198 - 2000 10970790
7 - 1385 - 252 - 2000 10970790
8 - 1466 - 279 - 2000 10970790
8 - 1598 - 279 - 2000 10970790
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two N terminal transmembrane segments in the central hydrophilic region
  • a C terminal region with three transmmembrane segments (TM3)
  • a single HXXHH motif
  • a strong signal (dilysine motifs)
  • HOMOLOGY
    interspecies homolog to C.elegans gene
    homolog to S.cerevisiae feu1/elo2,sur4/elo3
    Homologene
    FAMILY GNS1/SUR4 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • involved in the biosynthesis of very long chain fatty acids and in the pathogenesis of macular degeneration
  • ElOVL1 is a key determinant of epidermal CER (ceramide) chain length and is essential for permeability barrier formation
  • Fatty acid elongase ELOVL1 and the ceramide synthase CERS2 were involved in C24:2 ceramide production
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ELOVL1 activity is regulated with the ceramide synthase CERS2, an enzyme essential for C24 sphingolipid synthesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IKSHD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal cancer tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Elovl1 mutant mice exhibited a decreased postnatal survival rate, and some died of startle epilepsy
  • Elovl1 knockout mice died shortly after birth due to epidermal barrier defects