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FLASH GENE
Symbol ARHGEF3 contributors: mct/npt - updated : 17-09-2013
HGNC name Rho guanine nucleotide exchange factor (GEF) 3
HGNC id 683
Location 3p14.3      Physical location : 56.761.445 - 57.113.336
Synonym name
  • exchange factor found in platelets and leukemic and neuronal tissues, XPLN
  • RhoGEF protein
    • Synonym symbol(s) ASI, STA3, GEF3, XPLN, FLJ98126, MGC118905, DKFZP434F2429
    DNA
    TYPE functioning gene
    STRUCTURE 351.89 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3649 - 558 - 2000 1087361
    10 - 4065 - 532 - 2000 1087361
    10 - 3612 59.8 526 - 2000 1087361
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivestomach   highly
    Endocrineparathyroid   highly
    Nervousbrainforebraincerebral cortexfrontal cortexpredominantly Homo sapiens
    Reproductivemale systemtestis  highly
    Respiratoryrespiratory tracttrachea  highly
    Urinarykidney    
    Visualeyeanterior segment   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Muscularstriatumskeletal predominantly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet
    Lymphoid/Immunemacrophage
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal 125-AA fragment of ARHGEF3 is both necessary and sufficient for the inhibition of CRTC2
  • a diffuse B-cell lymphoma (Dbl) homology (DH) domain followed by
  • a pleckstrin homology (PH) domain
    • HOMOLOGY
    Homologene
    FAMILY
  • DBL family
    • CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • stimulating guanine nucleotide exchange on RhoA and RhoB, but not RhoC, RhoG, Rac1, or Cdc42
  • stimulating the assembly of stress fibers and focal adhesions in a Rho kinase-dependent manner
  • playing a role in the determination of bone density in Caucasian women
  • role of ARHGEF3 in regulation of iron uptake and erythroid cell maturation
  • negatively regulates cell survival and skeletal myoblast differentiation by inhibiting CRTC2 and subsequently the Ser/Thr kinase AKT1
  • regulator of CRTC2 signaling to AKT1 via a noncanonical mechanism
  • negatively regulates cell survival by suppressing CRTC2 and AKT1
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • regulator of transferrin uptake in erythroid cells, through activation of RHOA
  • activates RHOA and RHOB, but not RHOC, although their GTPase sequences are highly conserved
  • interacts with CRTC2 but not with MTOR, and this interaction is dependent on rictor
  • negatively regulates AKT1 phosphorylation and cell survival
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to postmenopausal osteoporosis
    Variant & Polymorphism SNP increasing the risk of postmenopausal osteoporosis
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS