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FLASH GENE
Symbol IQSEC1 contributors: mct - updated : 11-03-2014
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
  • Synonym symbol(s) KIAA0763, ARFGEP100, BRAG2, GEP100
    DNA
    TYPE functioning gene
    STRUCTURE 176.07 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
    14 - 5248 108 963 - 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   
    Respiratorylung    
    Urinarykidney    
    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 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
  • 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
  • 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
  • IQSEC1 binds to DLG4
  • 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