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FLASH GENE
Symbol USH1G contributors: mct/pgu - updated : 08-12-2017
HGNC name Usher syndrome 1G (autosomal recessive)
HGNC id 16356
Corresponding disease
DFNB52 neurosensory deafness 52
USH1G Usher syndrome type 1G
Location 17q25.1      Physical location : 72.912.175 - 72.919.351
Synonym name
  • scaffold protein containing ankyrin repeats and SAM domain
  • Usher syndrome 1G protein
    • Synonym symbol(s) SANS, FLJ33924, ANKS4A
    DNA
    TYPE functioning gene
    STRUCTURE 7.18 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 3561 - 461 - 2008 17906286
    3 - 3512 - 358 - 2008 17906286
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Homo sapiens
     earouter    Homo sapiens
    Nervousbrainhindbraincerebellum  
    Reproductivemale systemtestis   
    Urinarykidney    
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensorystato-auditory  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell
    Hearing / Equilibriumhair cell receptor Homo sapiens
    Visualcone photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three ankyrin repeats
  • a SAM (sterile alpha motif) domain, that specifically, binds to the PDZ domain of USH1C, revealing previously unknown interaction modes for both PDZ and SAM domains
  • a PDZ-binding motif(TEL) at the C terminus
    • HOMOLOGY
    interspecies ortholog to murine Ush1g1
    intraspecies homolog to HARP
    Homologene
    FAMILY
    CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    text
  • in the apical region of cochlear and vestibular hair cell bodies underneath the cuticular plate
  • localized in the ridges of the periciliary complex and in the connecting cilium of photoreceptor cells
  • co-localization of USH1G and myomegalin in photoreceptor cells in close association with microtubules
  • Myosin VIIa and USH1G localization at stereocilia upper tip-link density
    • basic FUNCTION
  • scaffolding protein involved in the functional network formed by harmonin, cadherin 23 and MYO7A that is required for cohesion of growing stereocilia
  • functions as a scaffold protein in USH protein networks during ciliogenesis, at the mature ciliary apparatus, the ribbon synapse and the cell-cell adhesion of mammalian photoreceptor cells
  • controlling the hair bundle cohesion and proper development by regulating the traffic of USH1 proteins via its binding to myosin VIIa and/or harmonin
  • belongs to a molecular complex at the lower end of the tip-link and plays a critical role in the maintenance of this link
  • potentially involved in either the maintenance of the tip-link or its renewal
  • contributes to the periciliary protein network in retinal photoreceptor cells
  • MYO7A, USH1G, and USH1C form the core components of the stereocilia upper tip-link density molecular complex
  • USH1G, MYO7A, USH1C, CDH23, PCDH15 form an adhesion belt around the basolateral region of the photoreceptor outer segment, and defects in this structure cause the retinal degeneration in USH1 patients
  • USH1G and MAGI2-mediated endocytosis regulates aspects of ciliogenesis
  • because the USH1G and CDH23 proteins form a complex in the stereocilia, the interaction between these proteins may play key roles in the maintenance of stereocilia and the prevention of early-onset progressive hearing loss (PHL)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction , sensory transduction/vision
    a component
  • harmonin/Sans (USH1C/USH1G)complex may serve as a platform to interact with many other proteins related to the development of hearing and visual cells via a number of other unoccupied domains in the complex
  • role of the USH1G-PDE4DIP complex in microtubule-dependent inner segment cargo transport towards the ciliary base of photoreceptor cells
  • MYO7A, USH1G, and the upper tip-link density protein USH1C form a tripartite complex and that each protein is capable of interacting with one another independently
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • harmonin (by binding to the first PDZ domain) and with MYO7A
  • direct binding of PDE4DIP, a Golgi associated protein synonymously named myomegalin, to the CENT domain of USH1G
  • phosphorylated USH1G tightly regulates MAGI2-mediated endocytosis
  • direct interaction between USH1G and the transmembrane adhesion protein USH2A and both assemble into a ternary USH1/USH2 complex together with WHRN via mutual interactions
  • direct binding of IFT complex B proteins IFT52 and IFT57 to the N-terminal ankyrin repeats and the central domain of USH1G
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) USH1G , DFNB52
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS