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FLASH GENE
Symbol EMG1 contributors: mct/npt/pgu - updated : 22-08-2009
HGNC name EMG1 nucleolar protein homolog (S. cerevisiae)
HGNC id 16912
Corresponding disease
BWCNS Bowen-Conradi syndrome
Location 12p13.31      Physical location : 7.079.943 - 7.085.165
Synonym name
  • probable ribosome biogenesis protein NEP1
  • C2f protein
  • essential for mitotic growth 1
  • nucleolar protein EMG1 homolog
  • Synonym symbol(s) NEP1, C2F, Grcc2f, FLJ60792
    DNA
    TYPE functioning gene
    STRUCTURE 5.15 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1068 - 244 - 2009 19463982
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly
    Digestiveliver   highly
    Endocrinepancreas   highly
    Reproductivefemale systemplacenta  highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    Text brain, lung, liver, kidney, spleen, thymus
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved SPOUT core
  • two unique domains that form an extended surface, which we predict to be involved in binding of RNA substrates
  • conjugated Other
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to murine Grcc2f
    Homologene
    FAMILY
  • alpha/beta knot fold methyltransferase (SPOUT) superfamily
  • CATEGORY regulatory , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    text distributed throughout the cell; however, its nuclear localization depends on physical interaction with a newly characterized nucleolar protein, NOL14
    basic FUNCTION
  • acting as a translation elongation factor
  • involved in 40S ribosomal subunit biogenesis
  • seems to play a role a methylation reaction in pre-rRNA processing
  • essential for the biogenesis of 18S ribosomal RNA and the 40S ribosome
  • essential function in ribosomal biogenesis which directly or indirectly interferes with a methylation reaction during the early steps of pre-rRNA processing necessary for the generation of 40S ribosomal subunits
  • presence of the protein is both necessary and sufficient for ribosome biogenesis
  • essential ribosome assembly factor
  • CELLULAR PROCESS protein, translation/synthesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • acetylated
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with NOL14 (interaction is required for the maturation of the 18S rRNA and for 40S ribosome production)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BWCNS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS