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FLASH GENE
Symbol ARHGAP5 contributors: mct/npt/pgu - updated : 25-10-2013
HGNC name Rho GTPase activating protein 5
HGNC id 675
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • several motifs of a GTPase domain in its N terminal region
  • a C terminus containing a Rho/GAP domain
    • HOMOLOGY
    Homologene
    FAMILY
  • Rho family GTPase-activating protein
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • with RASGRF1, control pivotal aspects of neural development, including neuronal differentiation and process outgrowth
  • is required for normal brain development
  • play an essential role in invasion of the terminal end buds (TEBs) into the surrounding fat pad during mammary gland ductal morphogenesis
  • RASGRF1 and ARHGAP5 function to modulate Rho signaling in response to integrin engagement
  • important regulators of RhoGTPase activity in mammalian cells
  • role in the expression of the two collaborative proteases MMP14 and MMP2, thereby affecting matrix remodelling and angiogenesis
  • probable target for the amplification at 14q12, and promotes cells spreading and migration by negatively regulating RhoA activity in hepatocellular carcinoma cells
  • critical transducer element of hematopoietic stem cell self-renewal activity and long-term engraftment
  • may promote tumorigenesis through a RAC1/ROS dependent mechanism
  • RASGRF1 and ARHGAP5 are essential genes that have distinct, but overlapping roles in the developing nervous system
  • is required for mammary gland morphogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with RASGRF1, regulates actin stress fiber dynamics via hydrolysis of Rho-GTP
  • critical role for CTNND1 (AAs 820-843) domain in the CTNND1/ARHGAP5 signaling complex assembly, membrane targeting, and stimulation of ARHGAP5 activity toward inhibition of the Rho pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL14QP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    disrupts ductal morphogenesis and induces hyperplastic lesions in the developing mammary gland
    Susceptibility
    Variant & Polymorphism
    Candidate gene cortical blindness
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Arhgap5 display several major defects including deficits in the formation of major forebrain commissures, including the corpus callosum and anterior commissure