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Description for Protein SLC9A3R1

solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
52 total interacting proteins; 24 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 5/1)
(phosphoproteome: 1; platelet: 3; secretome: 1; undefined: 1)
Summary:
This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer. (PubMed Links)
Domains and Motifs:
  • PDZ: Domain present in PSD-95, Dlg, and ZO-1/2.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K13365
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    NHERF; ERM binding phosphoprotein 50kD; EBP50
    Approved Symbol:
    SLC9A3R1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 19
    Human (de-) phosphorylation sites: 19; Platelet phosphorylation sites: 4
    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: 05406 Entrez Gene ID: 9368 OMIM ID: 604990 Swissprot Accession: O14745;