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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
Location 19q13.33      Physical location : 51.165.083 - 51.220.195
Synonym name
  • somatostatin receptor-interacting protein
  • synamon
  • SSTR-interacting protein
  • Synonym symbol(s) SSTRIP, SPANK-1, synamon
    DNA
    TYPE functioning gene
    STRUCTURE 55.11 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    KCNC3 19q13.3 potassium voltage-gated channel, Shaw-related subfamily, member 3 NAP1L 19q13.33 potassium voltage-gated channel, Shaw-related subfamily, member 3 NAP1 19q13.33 pronapsin A NR1H2 19q13.3 nuclear receptor subfamily 1, group H, member 2 POLD1 19q13.3 polymerase (DNA directed), delta 1, catalytic subunit 125kDa SPIB 19q13.3 Spi-B transcription factor (Spi-1/PU.1 related) MYBPC2 19q13.3 myosin binding protein C, fast type LOC284361 19q13.33-q13.41 hypothetical protein LOC284361 SBBI54 19q13.41 hypothetical transmembrane protein SBBI54 LOC284363 19q13.41 similar to RIKEN cDNA 0610012D14 DKFZp761A179 SYT3 19q13.4 synaptotagmin III LOC342918 19q13.41 hypothetical LOC342918 SHANK1 19q13.3 SH3 and multiple ankyrin repeat domains 1 SCGF 19q13.3 stem cell growth factor; lymphocyte secreted C-type lectin GPR32P 19q13.3 G protein-coupled receptor 32, pseudogene GPR32 19q13.3 G protein-coupled receptor 32 ACPT 19q13.4 acid phosphatase, testicular MGC13170 19q13.41 multidrug resistance-related protein MGC45922 19q13.41 hypothetical gene MGC45922 KLK1 19q13.4 kallikrein 1, renal/pancreas/salivary KLK15 19q13.4 kallikrein 1, renal/pancreas/salivary KLK3 19q13.3 kallikrein 3, (prostate specific antigen) KLK2 19q13.4 kallikrein 2, prostatic KLK4 19q13.3-q13.4 kallikrein 4 (prostase, enamel matrix, prostate) LOC390956 19 similar to peptidyl-Pro cis trans isomerase KLK5 19q13.3-q13.4 kallikrein 5 KLK6 19q13.3 kallikrein 6 (neurosin, zyme) KLK7 19q13.41 kallikrein 7 (chymotryptic, stratum corneum) KLK8 19q13.3 kallikrein 8 (neuropsin/ovasin) KLK9 19q13.3-q13.4 kallikrein 9
    RNA
    TRANSCRIPTS type messenger
    text several
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 splicing 6643 233 2161 - 1999 10551867
    also called SSTRIP variant a
    - splicing 4790 170 1548 - 1999 10551867
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonhypothalamus  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text developing brain, cell body dendrites
    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