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FLASH GENE
Symbol ELP4 contributors: mct/npt - updated : 27-02-2017
HGNC name elongation protein 4 homolog (S. cerevisiae)
HGNC id 1171
Location 11p13      Physical location : 31.531.296 - 31.805.327
Synonym name
  • chromosome 11 open reading frame 19
  • PAX6 neighbor gene protein
  • Synonym symbol(s) PAXNEB, PAX6NEB, C11orf19, FLJ20498, dJ68P15A.1, AN, AN2, PAX6NEB, hELP4
    DNA
    TYPE functioning gene
    SPECIAL FEATURE opposite orientation
    text opposite orientation with PAX6
    STRUCTURE 274.80 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1584 - 424 - 2002 11714725
    11 - 2483 - 476 - 2002 11714725
    12 - 2769 - 535 - 2002 11714725
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to yeast elp4
    Homologene
    FAMILY
  • ELP4 family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • having histone acetyltransferase activity with specificity to histone H3 and, to a much lesser extent, to histone H4 (Kim 2002)
  • ELP4, ELP5, and ELP6--are required for histone acetyltransferase (HAT) activity, and Elongator binds to both naked and nucleosomal DNA
  • involved in transcription and tRNA modification (Strug 2009)
  • ELP1, ELP2, ELP3, ELP4, ELP5, ELP6 plays vital roles in gene regulation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the elongator complex, involved in cell cycle (Gu 2009)
  • core Elongator complex formed by IKBKAP, ELP2, and ELP3 was rather stable, whereas ELP4, ELP5, and ELP6 might loosely contact and work together with the core Elongator to regulate cell functions
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ELP6 acts as a bridge to assemble ELP4 and ELP5 6)
  • ELP5 is required for the integrity of Elongator and directly connects ELP3 to ELP4
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    associated with language impairment, autism spectrum disorder, and mental retardation
    Susceptibility to rolandic epilepsy
    Variant & Polymorphism other polymorphisms increasing the risk of to rolandic epilepsy (Strug 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS