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FLASH GENE
Symbol SHANK1 contributors: mct/npt/pgu - updated : 09-05-2012
HGNC name SH3 and multiple ankyrin repeat domains 1
HGNC id 15474
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one SH3 domain
  • six ankyrin repeats
  • one PSD-95/DLG/ZO1 domain (PDZ domain), recognizing the C-terminus of numerous target proteins
  • one sterile alpha motif (SAM) domain
  • a proline rich region
    • HOMOLOGY
    interspecies homolog to rattus cortactin binding protein 1
    Homologene
    FAMILY
  • shank family of synaptic protein
    • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • molecular scaffold in the post-synaptic density (PSD)
  • regulate the size and shape of dendritic spines because of their capacity to directly interact with many different PSD components and represent master scaffold proteins of the PSD (the observed increase of SHANK1 levels at synapses resulting from the cellular loss of FMR1 strongly interferes with the mental capacities of FXS patients)
  • scaffolding molecule of the postsynaptic density (PSD) of excitatory synapses, which is crucial for PSD assembly and the formation of dendritic spines
  • neuronal scaffold proteins that is involved in the formation of synaptic protein complexes
  • able to serve as a membrane-associated scaffold for the assembly of signaling complexes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • sharpin
  • specific association of CACNA1D C terminus, with SHANK1 PDZ domain
  • interacting with FMR1 (represses translation of SHANK1 transcripts in neurons via an interaction with its 3 prime UTR, but translation block is abolished upon the activation of GRMs and deregulated postsynaptic synthesis of SHANK1 may significantly contribute to the aberrant dendritic spine morphology caused by the absence of FMR1)
  • asymmetric association of ARHGEF7 CC and SHANK1 PDZ domain
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in Autism Spectrum Disorder, or broader autism phenotype, limited to males which provides further evidence of the existence of a protective factor and has significant implications for elucidating the molecular basis of sex bias in ASD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • reduced levels of ultrasonic vocalizations and scent marking behavior in Shank1(-/-) mice are consistent with a phenotype relevant to social communication deficits in autism