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Description for Protein SHANK3

SH3 and multiple ankyrin repeat domains 3
8 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(phosphoproteome: 1; undefined: 1)
Summary:
This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD) which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene are a major causitive factor in the neurological symptoms of 22q13.3 deletion syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SAM: Sterile alpha motif.
  • ANK: ankyrin repeats
  • SH3: Src homology 3 domains
  • PDZ: Domain present in PSD-95, Dlg, and ZO-1/2.

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    KIAA1650; PROSAP2; PSAP2; SPANK-2; Proline-rich synapse-associated protein 2; Shank postsynaptic density protein
    Approved Symbol:
    SHANK3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 8
    Human (de-) phosphorylation sites: 8; Platelet phosphorylation sites: 2

    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available


    Associated Genetic Diseases:

    None Available
    Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 18979 Entrez Gene ID: 85358 OMIM ID: 606230 Swissprot Accession: C9JRK9Q9BYB0