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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
Corresponding disease
DEL14QP chromosome 14q proximal deletion
Location 14q12      Physical location : 32.546.494 - 32.628.932
Synonym name
  • growth factor independent 2
  • p100 RasGAP-associated p105 protein
  • p105 RhoGAP
  • p190-B RhoGAP
  • Synonym symbol(s) P190B, RHOGAP5, GFI2
    DNA
    TYPE functioning gene
    STRUCTURE 82.44 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D14S1071 - ARHGAP5 - D14S1060 - qter
    Authors Gene Map (98)
    Physical map
    UBE2CP1 14 ubiquitin-conjugating enzyme E2C pseudogene 1 RPL12P5 14 ribosomal protein L12 pseudogene 5 RPL27P1 14 ribosomal protein L27 pseudogene 1 COCH 14q12-q13 coagulation factor C homolog, cochlin (Limulus polyphemus) STRN3 14q13-q21 striatin, calmodulin binding protein 3 AP4S1 14q12 adaptor-related protein complex 4, sigma 1 subunit HECTD1 14q12 HECT domain containing 1 NARSP 14 asparaginyl-tRNA synthetase pseudogene C14orf125 14 chromosome 14 open reading frame 125 ATP5GP4 14q12 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 4 LOC387979 14 similar to RIKEN cDNA D930036F22 gene LOC387980 14 LOC387980 C14orf126 14 chromosome 14 open reading frame 126 GPR33 14q12 G protein-coupled receptor 33, pseudogene C14orf127 14 chromosome 14 open reading frame 127 LOC387981 14 LOC387981 C14orf128 14 chromosome 14 open reading frame 128 ARHGAP5 14q11-q12 Rho GTPase activating protein 5 AKAP6 14q11.2-q13.1 a kinase (PRKA) anchor protein 6 MTCO1P2 14 cytochrome c oxidase pseudogene 2 NPAS3 14q12-q13 neuronal PAS domain protein 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 9604 172.3 1502 - 2009 1899664
    7 - 9601 172.2 1501 - 2009 1899664
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain   highly Mus musculusAdult
     brain   highly Mus musculusFetal
    Reproductivemale systemtestis   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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