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Description for Protein ITPR1

inositol 1,4,5-triphosphate receptor, type 1
32 total interacting proteins; 18 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 3/2)
(membrane: 2; platelet: 9; undefined: 1)
Summary:
This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • MIR: Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
  • CC: Coiled Coil
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04958
    KEGG - Pathway(s):
    hsa04020; hsa04070; hsa04114; hsa04270; hsa04540; hsa04720; hsa04730; hsa04912; hsa04970; hsa05010; hsa05016
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Inositol 1,4,5 trisphosphate receptor, type 1; Type 1 InsP3 receptor; InsP3R1; IP3R
    Approved Symbol:
    ITPR1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 34
    Human (de-) phosphorylation sites: 34; 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):

  • D-Myo-Inositol-1,4,5-Triphosphate(db);
  • Glycerol(db)

    Associated Genetic Diseases:

    None Available
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 6
  • Isoform 2 : 6
  • Isoform 1 : 6
    • Additional Identifiers:

    HPRD: 00925 Entrez Gene ID: 3708 OMIM ID: 147265 Swissprot Accession: Q14643;