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FLASH GENE
Symbol EIF4A3 contributors: mct - updated : 22-01-2016
HGNC name eukaryotic translation initiation factor 4A, isoform 3
HGNC id 18683
Corresponding disease
DLCRM distal limb contractures with mental retardation
RCPS Richieri-Costa-Pereira syndrome
Location 17q25.3      Physical location : 78.109.013 - 78.120.982
Synonym name
  • eukaryotic initiation factor 4A-like NUK-34
  • DEAD (Asp-Glu-Ala-Asp) box polypeptide 48
  • ATP-dependent RNA helicase eIF4A-3
  • ATP-dependent RNA helicase DDX48
  • nuclear matrix protein 265
  • Synonym symbol(s) KIAA0111, NMP265, NUK-34, MGC10862, eIF4AIII, DDX48
    EC.number 3.6.1.-/ 3.6.4.13
    DNA
    TYPE functioning gene
    STRUCTURE 11.97 kb     12 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 1734 46.7 411 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveesophagus   highly
     liver   highly
    Endocrineparathyroid   highly
    Hearing/Equilibriumear   highly
    Lymphoid/Immunelymph node   highly
     thymus   highly
    Nervousbrain   highly
    Reproductivefemale systemovary  highly
     female systemuteruscervix highly
    Respiratorylung   highly
    Skin/Tegumentskin   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Respiratoryalveolar cell type 2
    cell lineage
    cell lines
    fluid/secretion moderately in blood, predominantly in lymph
    at STAGE
    physiological period fetal
    Text moderately in umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a helicase ATP-binding domain
  • a DEAD-box motifs
  • a helicase C-terminal domain
  • conjugated Other
    HOMOLOGY
    interspecies homolog to murine Eif4a3 (99.7 pc)
    Homologene
    FAMILY
  • DEAD box helicase family
  • eIF4A subfamily
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • spliceosome
  • EIF4A1 and EIF4A2 are cytoplasmic, whereas EIF4A3 is nuclear-localized
  • basic FUNCTION
  • acting as an ATP dependent RNA helicase activities
  • may be a translation initiation factor
  • playing a role in post splicing events, including mRNA export, cytoplasmic localization and non sense-mediated decay
  • involved in nonsense-mediated decay of mRNAs containing premature stop codons
  • involved in negative regulation of translation
  • role in regulating transcription abundance of neuronal effector genes that underlie learning and memory processes
  • acts as a transcript-selective translational repressor of selenoprotein synthesis during selenium deficiency
  • DEAD box helicase, the core protein of the exon junction complex (EJC)
  • EIF4A3 is an Asp-Glu-Ala-Asp (DEAD) box-family adenosine triphosphate (ATP)-dependent RNA helicase
  • EIF4A1 and EIF4A2 are required for translation initiation, but EIF4A3 participates in the exon junction complex (EJC) and functions in RNA metabolism including nonsense-mediated RNA decay (NMD)
  • CELLULAR PROCESS nucleotide, RNA splicing
    protein, translation regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the exon junction complex (EJC)
  • component of the exon junction complex which assembles on spliced mRNAs
  • INTERACTION
    DNA binding
    RNA preferentially associating with spliced mRNA
    small molecule nucleotide,
  • ATP
  • protein
  • interacting with THOC4
  • interaction with the selenoprotein mRNA prevents the binding of SECISBP2, which is required for selenocysteine insertion, thereby inhibiting the synthesis of the selenoprotein
  • interaction between NOM1 and EIF4A3 (NOM1 is a missing EIF4G-like interacting partner of eIF4A3)
  • CWC22 is a new EIF4A3 partner (duality of CWC22 function that hinders EIF4A3 from nonspecifically binding RNA and escorts it to the splicing machinery to promote exon-junction complex (EJC) assembly on mature mRNAs)
  • protein-protein interaction of RALY with EIF4A3, FMR1, and HNRNPC
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RCPS , DLCRM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS