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FLASH GENE
Symbol OPHN1 contributors: mct - updated : 11-10-2017
HGNC name oligophrenin 1
HGNC id 8148
Corresponding disease
MRX60 mental retardation, 60
Location Xq12      Physical location : 67.262.187 - 67.653.299
Synonym name
  • Rho/Rac/Cdc42 GTPase activating protease 7
  • oligophrenin-1, Rho-GTPase activating protein
  • Synonym symbol(s) ARHGAP7, OPH1, OPN1, ARHGAP41, MRX60
    DNA
    TYPE functioning gene
    STRUCTURE 391.11 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map cen - AR - [DXS1160 - PGK1P1 - DXS897 - DXS908 ] - EFNB1 - DXS159 - qter
    Authors Billuart (98)
    Text [ARHGAP7 ]
    Physical map
    LOC392484 X similar to Nanog homeobox; homeobox transcription factor Nanog LOC347421 Xq12 similar to hypothetical protein FLJ40432 LOC389864 X hypothetical gene supported by AK091520; BC006550; BC007435; NM_002139 LOC389865 X LOC389865 Z39IG Xp11-q11 Homo sapiens Ig superfamily protein (Z39IG), mRNA. LOC392485 X similar to CG13379-PA LOC139272 Xq12 similar to eukaryotic initiation factor 4B HEPH Xq11-q12 hephaestin LOC392486 X similar to Probable G protein-coupled receptor GPR83 precursor LOC139270 Xq12 similar to Pyruvate kinase, M1 isozyme (Pyruvate kinase muscle isozyme) (Cytosolic thyroid hormone-binding protein) (CTHBP) (THBP1) XEDAR Xp22 similar to Pyruvate kinase, M1 isozyme (Pyruvate kinase muscle isozyme) (Cytosolic thyroid hormone-binding protein) (CTHBP) (THBP1) AR Xq11.21-q12.1 androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease) OPHN1 Xq12 oligophrenin 1 PGK1P1 Xq12 phosphoglycerate kinase 1, pseudogene 1 MGC21416 Xq12 hypothetical protein MGC21416 LOC392487 X similar to ribosomal protein L31 STARD8 Xq12 START domain containing 8 LOC389866 X similar to PAI-1 mRNA-binding protein; chromodomain helicase DNA binding protein 3 interacting protein EFNB1 Xq12 ephrin-B1 LOC389867 X LOC389867 PJA1 Xq12 praja 1 FLJ33610 Xq13.1 hypothetical protein FLJ33610 HCP43 Xq13.1 cytochrome c, somatic pseudogene TED Xq13.1 TED protein ED1 Xq12-q13.1 ectodermal dysplasia 1, anhidrotic LOC158835 Xq13.1 similar to bA351K23.5 (novel protein) LOC139562 Xq13.1 similar to bA351K23.4 (novel protein) IGBP1 Xq13.1-q13.4 immunoglobulin (CD79A) binding protein 1 FLJ25989 Xq13.1 FLJ25989 protein LOC158833 Xq13.1 hypothetical protein LOC158833 P2RY4 Xq13 pyrimidinergic receptor P2Y, G-protein coupled, 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 7531 91.6 802 - 2016 27742778
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal glandmedulla    Homo sapiens
    Nervousbraindiencephalonhypothalamus  
     brainlimbic systemhippocampus highly
     brainforebraincerebral cortex highly
    Visualeyeretina    Mus musculusAdult
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousglia
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text predominantly, in fetal brain, placenta, neuroepithelium of the neural tube, developing spinal cord and later in brain areas that are characterized by high synaptic plasticity
    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