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FLASH GENE
Symbol SRGAP3 contributors: mct/npt - updated : 23-02-2016
HGNC name SLIT-ROBO Rho GTPase activating protein 3
HGNC id 19744
Corresponding disease
DEL3PD chromosome 3p25 deletion syndrome
MRAJ mental retardation with ataxic gait
Location 3p25.3      Physical location : 9.022.277 - 9.291.311
Synonym name
  • related to RHO-GAP hematopoietic protein C1,87kDa
  • WAVE-associated Rac GTPase activating protein
  • Synonym symbol(s) KIAA0411, MEGAP, WRP, ARHGAP14, SRGAP2, KIAA1156
    DNA
    TYPE functioning gene
    STRUCTURE 236.03 kb     22 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 8901 - 1099 - 2002 12195014
    22 - 8829 122 1075 - 2002 12195014
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Nervousbraindiencephalonhypothalamus highly
     brainforebraincerebral cortex  
    Reproductivefemale systemovary   
     male systemprostate   
     male systemtestis   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal FCH, and F-BAR(3) inducing filopodia in both cell types, though less potently than F-BAR(SRGAP2) , and F-BAR localizes SRGAP3 to the leading edge of cellular protrusions
  • a central RHO-GAP
  • a FBH and a SH3 domains, important for focal adhesion targeting
  • a single PXXP motif in the C-terminal region of SRGAP3 mediates binding to multiple SH3 domains
  • HOMOLOGY
    intraspecies homolog to RHO-GAP hematopoietic protein C1(ARHGAP4)
    Homologene
    FAMILY
  • Rho GTPases family
  • FNBP2 family
  • Slit-Robo GAP (srGAP) family
  • CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • undergoes regulated shuttling between the cytoplasm and the nucleus during neuronal development
  • RAPH1 localizes with SRGAP3 at the leading edge
  • basic FUNCTION
  • involved in axon guidance and neurite outgrowth and in mental development
  • SRGAP, SRGAP2, SRGAP3 are not only involved in the regulation of the Slit-Robo signal transduction, but also in neuronal development and that the translocation of srGAPs is important for their functions
  • implicated in repulsive axon guidance and neuronal migration through Slit-Robo-mediated signal transduction
  • inhibitory role of SRGAP3 on actin dynamics, specifically on lamellipodia formation
  • controls actin and microtubule dynamics through negative regulation of RAC1
  • has tumor suppressor-like activity in mammary epithelial cells, likely through its activity as a negative regulator of RAC1
  • SRGAP3-mediated cytoskeletal reorganisation has an important influence on a variety of neurodevelopmental processes, which may be required for normal cognitive function
  • important modulator of actin cytoskeletal dynamics and has an important influence on a variety of neurodevelopmental processe
  • implicated in different critical aspects of neuronal development
  • via its interactions SRGAP3 could link receptor signalling events to the endocytic machinery
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • component of the WAVE1 complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with the intracellular domain of ROBO1
  • binding partner of WASF1/WAVE1 that funtions as a signal termination factor for Rac
  • SRGAP3 influences RAPH1-evoked lamellipodial dynamics
  • interplay between SRGAP1, SRGAP2 and SRGAP3 regulates neuronal differentiation and neurite outgrowth
  • nuclear-localized SRGAP3 interacts with the SWI/SNF remodeling factor sMARCA4
  • cell & other
    REGULATION
    activated by enhanced by SLIT*
    Other inactivated by CDC42
    ASSOCIATED DISORDERS
    corresponding disease(s) MRAJ , DEL3PD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    in-frame oncogenic fusion between SRGAP3 and RAF1 in Pilocytic astrocytomas (Jones 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for MR in 3p deletion
    Marker
    Therapy target
    ANIMAL & CELL MODELS