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Description for Protein SH2D1A

SH2 domain containing 1A
13 total interacting proteins; 9 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SH2: Src homology 2 domains

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07990
    KEGG - Pathway(s):
    hsa04650
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    SLAM associated protein; Signalling lymphocyte activation molecule associated protein; T cell signal transduction molecule SAP; DSHP; SAP
    Approved Symbol:
    SH2D1A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites

    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:

  • Lymphoproliferative syndrome, X-linked, 1(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 02390 Entrez Gene ID: 4068 OMIM ID: 300490 Swissprot Accession: O60880Q6FGS6