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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
    Physical map
    HT017 3p21.2 Homo sapiens TU3A protein (TU3A), mRNA. WNT5A 3p21.1 wingless-type MMTV integration site family, member 5A CAST 5q15-q21 calpastatin C1orf1 1p36.2 chromosome 1 open reading frame 1 RAP140 3p21.31 retinoblastoma-associated protein 140 ARHGEF3 3p21-p13 Rho guanine nucleotide exchange factor (GEF) 3 SPATA12 3p21.2 spermatogenesis associated 12 IL17RD 3p21.1 interleukin 17 receptor D HESX1 3p21.2-p21.1 homeo box (expressed in ES cells) 1 APPL 3p21.1-p14.3 homeo box (expressed in ES cells) 1 ASB14 3p21.1 ankyrin repeat and SOCS box-containing 14 FLJ40427 3p21.2 hypothetical protein FLJ40427 FLJ44290 3p21.2 FLJ44290 protein DKFZp667B1218 3p21.2 hypothetical protein DKFZp667B1218 ARF4 3p21.2-p21.1 ADP-ribosylation factor 4 FLJ34969 3p21.2 hypothetical protein FLJ34969 SLMAP 3p21.2-p14.3 sarcolemma associated protein LOC344797 3p21.2 similar to peptidylprolyl isomerase A FLNB 3p14.3 filamin B, beta (actin binding protein 278) DNASE1L3 3p21.1-p14.3 deoxyribonuclease I-like 3 ABHD6 3p21.2 abhydrolase domain containing 6 RPP14 3p21.2 ribonuclease P (14kD) PXK 3p21.2 PX domain containing serine/threonine kinase PDHB 3p21.1-p14.3 pyruvate dehydrogenase (lipoamide) beta KCTD6 3p21.2 potassium channel tetramerisation domain containing 6 ACOX2 3p14.3 acyl-Coenzyme A oxidase 2, branched chain TU3A 3p21.1 Homo sapiens TU3A protein (TU3A), mRNA. LOC389126 3 LOC389126 FAM3D 3p21.1 family with sequence similarity 3, member D
    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