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FLASH GENE
Symbol ARHGEF5 contributors: mct - updated : 21-05-2015
HGNC name Rho guanine nucleotide exchange factor (GEF) 5
HGNC id 13209
Location 7q35      Physical location : 144.052.488 - 144.077.724
Synonym name
  • transforming immortalized mammary,epithelial cell line B5/589
  • guanine nucleotide regulatory protein TIM
  • oncogene TIM
  • p60 TIM
    • Synonym symbol(s) TIM, TIM1, GEF5, P60, DKFZp686N1969
    DNA
    TYPE functioning gene
    STRUCTURE 27.76 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 5505 - 1597 - 2004 14662653
    14662653
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
    Endocrinepancreas    
    Reproductivefemale systembreastmammary gland lowly
     female systemovary   
     male systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pleckstrin homology (PH) domain, required for podosome formation
  • a SH3 domain
  • GDP-GTP exchange with the DBL homology motif, interacting with N-terminal helices to exclude and prevent activation of Rho GTPases
    • HOMOLOGY
    intraspecies homolog to GDP-GTP exchange factor MLF2 and NGEF
    Homologene
    FAMILY
  • Dbl family of guanine nucleotide exchange factor for Rho GTPases
    • CATEGORY regulatory , protooncogene
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • may be playing an important role in proliferative breast disease
  • may be involved in the control of cytoskeletal organization
  • acts as an upstream regulator for the RHOA/ROCK-mediated cellular functions
  • is important not only for replication fork protection and checkpoint response, but also for replication
  • important factor in chemotaxis of a macrophage phage-like
  • is crucial for SRC-induced podosome formation
  • SRC SH3-binding protein, tyrosine-phosphorylated by SRC and bound to SRC to positively regulate its activity
  • acts as a proto-oncogene in human lung adenocarcinoma cell tumorigenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with MCM2, MCM3, MCM4, MCM5, MCM6, MCM7 (Numata 2010)
  • can strongly activate RHOA and RHOB and weakly RHOC and RHOG, but not RAC1, RHOQ, RHOD
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer cell lines
    constitutional       loss of function
    attenuated allergic airway inflammation
    tumoral     --over  
    significantly increased in lung adenocarcinoma tissues and cell lines
    constitutional     --over  
    promoted actin stress fiber remodeling through activating RHOA, and the activation of RHOA or CDC42 was required for SRC-induced podosome formation
    Susceptibility
    Variant & Polymorphism other five alternative variants predominantly expressed in aggressive primary breast cancer
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS