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FLASH GENE
Symbol RUFY3 contributors: mct - updated : 22-12-2012
HGNC name RUN and FYVE domain containing 3
HGNC id 30285
Location 4q13.3      Physical location : 71.570.653 - 71.674.335
Synonym name
  • single axon-related 1
  • rap2 interacting protein x
  • Synonym symbol(s) KIAA0871, RIPX, RPIPX, SINGAR1
    DNA
    TYPE functioning gene
    STRUCTURE 103.68 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 1822 - 506 - 2007 17439943
    18 - 4425 - 620 - 2007 17439943
    13 - 4282 - 459 - 2007 17439943
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveliver   lowly
    Endocrineneuroendocrinepituitary  highly
    Nervousbrainlimbic systemhippocampus predominantly
     nerve   highly
    Reproductivefemale systemovary  lowly
     male systemtestis  lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal RUN (RPIP8, UNC-14, and NESCA) domain
  • two coiled-coil domains
  • C-terminal FYVE domain 5
  • secondary structure RUN domain comprises eight anti-parallel alpha-helices, which form an extensive hydrophobic core, followed by an extended segment (16928684)
    HOMOLOGY
    intraspecies homolog to RUNDC3A
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • localized in enlarged vesicles with the active GTP-bound form of RAB5A, where RAB5A(Q79L) sequester RUFY3
  • localized predominantly to endosomes
  • basic FUNCTION
  • ensures the robustness of neuronal polarity by suppressing formation of surplus axons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with KIAA1598 (shootin 1)
  • specific effector of RAP2A GTPase
  • interacting with RAB5A (C- terminal region of RUFY3 was necessary for this interaction)
  • RUFY3 binding with STAU2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    not affect the formation or elongation of axons during normal polarization processes but inhibited the formation of surplus axons induced by shoootin 1 overexpression
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS