Description
Product Characteristics:
Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Interacts with MCC.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: EBP 50, EBP50, Ezrin radixin moesin binding phosphoprotein 50, Ezrin-radixin-moesin-binding phosphoprotein 50, Na+/H+ exchange regulatory cofactor NHE RF, Na+/H+ exchange regulatory cofactor NHE-RF1, Na+/H+ exchange regulatory co factor, NHERF 1, NHERF, NHERF-1, NHERF1, NHRF1_HUMAN, NPHLOP2, Regulatory cofactor of Na+/H+ exchanger, SLC9A3R1, Sodium hydrogen exchanger regulatory factor 1, Sodium-hydrogen exchanger regulatory factor 1, Sodium/hydrogen exchanger regulatory factor 1, Solute carrier family 9 sodium/hydrogen exchanger member 3 regulator 1, Solute carrier family 9 sodium/hydrogen exchanger, isoform 3 regulatory factor 1, Solute carrier family 9 isoform 3 regulatory factor 1, Solute carrier family 9 isoform A3 regulatory factor 1, Solute carrier family 9 member 3 regulator 1.
Target Information: 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.[provided by RefSeq, Sep 2009]