SLC9A3R1 Antibody – Mouse Monoclonal

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]

NHERF: a 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 beta-2-adrenergic receptor 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.

Protein type: Motility/polarity/chemotaxis; Adaptor/scaffold

Chromosomal Location of Human Ortholog: 17q25.1

Cellular Component: centrosome; microvillus; intracellular membrane-bound organelle; brush border membrane; endomembrane system; actin cytoskeleton; lipid raft; ruffle; membrane; microvillus membrane; cytoplasm; apical plasma membrane; plasma membrane; nucleus; vesicle; filopodium

Molecular Function: protein binding; chloride channel regulator activity; protein self-association; beta-2 adrenergic receptor binding; beta-catenin binding; protein complex binding; dopamine receptor binding; protein complex scaffold; phosphatase binding; receptor binding; PDZ domain binding

Biological Process: bile acid secretion; Wnt receptor signaling pathway; negative regulation of protein kinase B signaling cascade; renal sodium ion transport; microvillus biogenesis; negative regulation of cell proliferation; cellular phosphate ion homeostasis; regulation of sodium:hydrogen antiporter activity; protein complex assembly; dopamine receptor, phospholipase C activating pathway; negative regulation of sodium:hydrogen antiporter activity; actin cytoskeleton organization and biogenesis; regulation of protein kinase activity; negative regulation of cell migration; dopamine receptor, adenylate cyclase activating pathway; negative regulation of phosphoinositide 3-kinase cascade

Disease: Nephrolithiasis/osteoporosis, Hypophosphatemic, 2