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
機能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.
組織特異性Detected in liver, kidney, pancreas, prostate, spleen, small intestine and placenta, in particular in the syncytiotrophoblast.
関連疾患Defects in SLC9A3R1 are the cause of hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]. Hypophosphatemia results from idiopathic renal phosphate loss. It contributes to the pathogenesis of hypophosphatemic urolithiasis (formation of urinary calculi) as well to that of hypophosphatemic osteoporosis (bone demineralization).
配列類似性Contains 2 PDZ (DHR) domains.
翻訳後修飾Phosphorylated on serine residues.
細胞内局在Cytoplasm. Apical cell membrane. Endomembrane system. Cell projection > filopodium. Cell projection > ruffle. Cell projection > microvillus. Translocates from the cytoplasm to the apical cell membrane in a PODXL-dependent manner (By similarity). Colocalizes with actin in microvilli-rich apical regions of the syncytiotrophoblast. Found in microvilli, ruffling membrane and filopodia of HeLa cells. Present in lipid rafts of T-cells.