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FLASH GENE
Symbol OPHN1 contributors: mct - updated : 11-10-2017
HGNC name oligophrenin 1
HGNC id 8148
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal conserved region inhibiting the RhoGAP activity through an as yet unknown mechanism,
  • a Rho family GTPase-activating (Rho-GAP) domain, and a Bin-Amphiphysin-Rvs (BAR) domain
  • one PH domain
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytosolic
    text
  • expressed and mainly localized at the plasma membrane and in the cytosol in chromaffin cells from adrenal medulla
    • basic FUNCTION
  • activating GTPase targets that are known to affect cell migration and outgrowth of axons and dendrites
  • downstream effector linking Rho GTPases to actin cytoskeleton
  • acting to modulate Rho GTPase signaling pathways and participating in neuronal morphogenesis by regulating the actin cytoskeleton
  • required for dendritic spine morphogenesis
  • through its Rho-GAP activity plays a critical role in the activity-dependent maturation and plasticity of excitatory synapses by controlling their structural and functional stability (Kasri 2009)
  • plays a key role in activity-dependent maturation and plasticity of excitatory synapses by regulating their structural and functional stability (Kasri 2009)
  • could have a physiological role in the retinal vasculatures
  • Rho-GTPase-activating protein, important for dendritic morphogenesis and synaptic function
  • multiple post-transcriptional events occur on OPHN1, a gene playing an important role in brain function and development
  • is involved in tumor progression of prostate carcinoma
  • is an important regulator of platelet cytoskeletal reorganization
  • control several synaptic functions, including synaptic plasticity, synaptic vesicle trafficking, and endocytosis
  • is a bifunctional protein that is able, through distinct mechanisms, to regulate and most likely link exocytosis to compensatory endocytosis in chromaffin cells
  • RHO GTPase-activating protein, a key regulator of several developmental processes, such as dendrite and spine formation and synaptic activity
  • plays a key role in regulating the number, morphology and function of adult-born inhibitory interneurons
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • forms a complex with endophilin A1, a protein implicated in membrane curvature generation during synaptic vesicles endocytosis (Nakano-Kobayashi 2009)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with the postsynaptic adaptor protein HOMER1
  • OPHN1 exhibits strong GTPase-stimulating activity towards RHOA, CDC42, and RAC1 and regulates cell adhesion and spreading
  • role for OPHN1 as an interaction partner of HOMER1B/C in spine endocytic zone (EZ) positioning
    • cell & other
    REGULATION
    inhibited by its amino-terminal domain
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX60
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal tumor
    constitutional       loss of function
    causes X-linked intellectual disability with cerebellar hypoplasia and leads to hyperactivation of the rho kinase (ROCK1) pathway
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • platelets from Ophn1(-/-) mice showed enhanced susceptibility to platelet activation with alterations in actin distribution and early release of granules