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FLASH GENE
Symbol EIF4H contributors: npt/ - updated : 02-12-2004
HGNC name eukaryotic translation initiation factor 4H
HGNC id 12741
Corresponding disease
WBS Williams Beuren syndrome
Location 7q11.23      Physical location : 73.588.705 - 73.611.429
Synonym name
  • eukaryotic translation initiation factor 4h
  • Williams-Beuren syndrome chromosome region 1
  • Synonym symbol(s) WSCR1, KIAA0038, WBSCR1, eIF-4H
    DNA
    TYPE functioning gene
    STRUCTURE 22.72 kb     7 Exon(s)
    regulatory sequence Binding site
    text structure RNA binding sites
    MAPPING cloned Y linked   status provisional
    regionally located in a region commonly deleted in Williams-Beuren syndrome
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2546 27.4 248 - Osborne, Marintchev (2009)
    6 - 2486 - 228 - Osborne, Marintchev (2009)
    lack an exon
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Nervousnerve   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two RNA recognition motifs
  • a C terminal transmembrane region
  • HOMOLOGY
    interspecies homolog to murine Wbscr1
    intraspecies homolog to RNA-binding proteins
    Homologene
    FAMILY
    CATEGORY regulatory , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • translation factor, stimulating the initiation of protein synthesis at the mRNA level
  • with EIF4B contribute to RNA affinity of the complex through weak interactions not detectable in structural assays (Rozovsky 2008)
  • CELLULAR PROCESS protein, translation/synthesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of eIF4A/4G/4H helicase complex (Marintchev 2008)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EIF4A
  • EIF4B
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WBS
    Susceptibility
    Variant & Polymorphism other base-pair inversion polymorphism predisposing to primarily WBS- causing microdeletions
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS