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FLASH GENE
Symbol LRRC47 contributors: SGE/npt - updated : 05-01-2010
HGNC name leucine rich repeat containing 47
HGNC id 29207
Location 1p36.32      Physical location : 3.696.783 - 3.713.068
Synonym symbol(s) KIAA1185, RP1-286D6.3
DNA
TYPE functioning gene
STRUCTURE 16.28 kb     7 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2694 - 583 - -
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   moderately
Digestiveliver   highly
 pancreas exocrine   highly
Nervousbraindiencephalonamygdala highly
Reproductivefemale systemovary  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven leucine-rich repeats
  • conjugated PhosphoP
    mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine Lrrc47 (87.7pc)
    homolog to rattus Lrrc47 (91.9pc)
    Homologene
    FAMILY
    CATEGORY enzyme , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • aminoacyl-tRNA synthetase
  • may be suggests involvement in cytoskeleton, signaling, and chaperone system abnormalities (Shin 2004)
  • CELLULAR PROCESS protein, translation/synthesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • tetramer of two alpha and two beta chains
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
    cell & other
    REGULATION
    Other acetylated protein
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    significantly decreased (P < 0.05) in fetal Down's syndrome brain
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS