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FLASH GENE
Symbol RUNDC3A contributors: mct - updated : 28-01-2013
HGNC name RUN domain containing 3A
HGNC id 16984
Location 17q21.31      Physical location : 42.385.926 - 42.396.037
Synonym name
  • RAP2 interacting protein 8
  • RPIP8 protein
    • Synonym symbol(s) RPIP8, RAP2IP, RPIP-8
    DNA
    TYPE functioning gene
    STRUCTURE 10.11 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1879 45.6 405 - 1998 9523700
    11 - 2047 - 446 - 1998 9523700
    11 - 1864 - 400 - 1998 9523700
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  predominantly
    Nervousbrain   highly
     nerve   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • N-terminal region contains the RUN domain, interacting with RAP2A
  • seven heptad repeats characteristic of coiled-coil domains and three potential phophorylation sites
  • a C terminal FYVE domain
    • HOMOLOGY
    interspecies homolog to murine Rundc3a (96 pc)
    Homologene
    FAMILY
  • RUNDC3A family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as an effector of RAP2 in neurons
  • playing a role of small GTPases regulator
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    small GTPase mediated signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with the GTP-bound form of RAP2A, specific effector of RAP2A GTPase
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    deleted with GRN in frontotemporal dementia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS