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FLASH GENE
Symbol IQSEC1 contributors: mct - updated : 26-11-2019
HGNC name IQ motif and Sec7 domain 1
HGNC id 29112
Location 3p25.2      Physical location : 12.938.718 - 13.114.617
Synonym name
  • KIAA0763 gene product
  • brefeldin resistant Arf-GEF 2b isoform
  • ADP-ribosylation factors guanine nucleotide-exchange protein 100
  • ADP-ribosylation factors guanine nucleotide-exchange protein 2
  • epididymis secretory sperm binding protein
    • Synonym symbol(s) KIAA0763, ARFGEP100, BRAG2, GEP100, ARF-GEP100
    DNA
    TYPE functioning gene
    STRUCTURE 176.39 kb     14 Exon(s)
    regulatory sequence Promoter
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 7388 - 1114 - 2006 16807291
  • isoform BRAG2a, a novel component of the photoreceptor dystrophin-associated glycoprotein complex (DGC), at the photoreceptor terminal
    • 14 - 5248 108 963 - 2006 16807291
    13 - 7343 - 814 - 2006 16807291
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart   highly
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain   highly
    Reproductivefemale systemovary   
     male systemprostate  highly
     male systemtestis   
    Urinarykidney    
    Visualeyeretina    Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N-terminal IQ-like motif
  • a central serine-rich region and Sec7 domain (sec7d), a Sec7-PH tandem domain
  • a C-terminal pleckstrin homology (PH) domain, (the PH domain and the interdomain linker of IQSEC1 may be targets for selectively regulating the activity of IQSEC1)
    • HOMOLOGY
    interspecies homolog to murine Iqsec1 (95.8pc)
    Homologene
    FAMILY
  • family of guanine nucleotide exchange factors for ADP ribosylation factors
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    text
  • IQSEC1 and ARF5 localize to clathrin-coated pits at the plasma membrane
    • basic FUNCTION
  • having a role in activation of ARF6 for its functions in E-cadherin recycling and actin remodeling
  • responsible for the invasive activity of ARF6 in breast cancer cells
  • IQSEC1, IQSEC2 control activity-dependent removal of AMPA receptors from glutamatergic synapses, a process that is required for long-term synaptic depression
  • in the CNS, IQSEC1 is concentrated in postsynaptic densities and plays a critical role in the development and plasticity of glutamatergic synapses
  • mediates SEMA3E-induced ARF6 activation in endothelial cells
  • plays a significant role in pancreatic cancer invasion through regulating the expression of E-cadherin and the process of mesenchymal to epithelial transition (MET)
  • acts at clathrin-coated pits to promote integrin internalization by activating ARF5 and suggest a previously unrecognized role for ARF5 in clathrin-mediated endocytosis of specific cargoes
  • small GTPases that regulate membrane trafficking and actin cytoskeleton
  • IQSEC1, IQSEC2, IQSEC3 have key roles in the function and organization of distinct excitatory and inhibitory synapses in the retina
  • is essential for developmental and pathological angiogenesis by promoting Endothelial cells sprouting through regulation of adhesion by mediating beta1-integrin internalization
  • having a conserved function in myoblast fusion
  • plays a critical role in neuronal development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
  • IQSEC1-ARF6-ASAP1-cortactin pathway is essential for angiogenesis activities, including cell migration and tubular formation
    • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CTNNA1
  • interacting with ARF6
  • responsible for the ARF6 activation to induce invasion and metastasis, by directly binding to ligand-activated epidermal growth factor receptor (EGFR)
  • functions in phagocytosis via its role in ARF6-dependent actin remodeling
  • in addition to ARF6, endogenous IQSEC1 also activates the class II Arfs, ARF4 and ARF5, and surprisingly, ARF5 mediates integrin internalization
  • MAP4K4 can activate ARF6 via IQSEC1 and enhance focal adhesions dissolution
  • IQSEC1 binds to DLG4
  • IQSEC1 is a guanine nucleotide exchange factor for ADP-ribosylation factor 6 (ARF6), a critical GTPase that regulates endosomal trafficking and actin cytoskeleton remodeling
    • cell & other
    REGULATION
    Other is allosterically regulated by PIP(2) binding to the PH domain and activity depends on the interdomain linker
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerendocrinepancreas
    possibility of it becoming a potential therapeutic target against pancreatic cancer
    ANIMAL & CELL MODELS
  • loss of Iqsec1 in neurons of the mouse cortex leads to defects in the maturation of dendritic spines