SLC9A3R1

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]

SLC9A3R1

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).
Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa.

Biological Process actin cytoskeleton organizationIEA:Ensembl
Biological Process adenylate cyclase-activating dopamine receptor signaling pathwayIEA:Ensembl
Biological Process auditory receptor cell stereocilium organizationIEA:Ensembl
Biological Process bile acid secretionISS:UniProtKB
Biological Process cellular phosphate ion homeostasisIEA:Ensembl
Biological Process cerebrospinal fluid circulationBy SimilarityISS:ARUK-UCL
Biological Process cilium organizationBy SimilarityISS:ARUK-UCL
Biological Process establishment of epithelial cell apical/basal polarityManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process establishment of Golgi localizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process fibroblast migrationIEA:Ensembl
Biological Process gamma-aminobutyric acid importISS:ARUK-UCL
Biological Process gland morphogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process glutathione transportISS:UniProtKB
Biological Process import across plasma membraneISS:ARUK-UCL
Biological Process maintenance of epithelial cell apical/basal polarityManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process microvillus assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process morphogenesis of an epithelium1 PublicationNAS:ARUK-UCL
Biological Process negative regulation of canonical Wnt signaling pathwayManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of cell population proliferationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of ERK1 and ERK2 cascadeManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of fibroblast migrationIEA:Ensembl
Biological Process negative regulation of mitotic cell cycleManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of phosphatidylinositol 3-kinase signalingISS:UniProtKB
Biological Process negative regulation of platelet-derived growth factor receptor signaling pathwayISS:UniProtKB
Biological Process negative regulation of protein kinase B signalingManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of sodium:proton antiporter activityIEA:Ensembl
Biological Process nuclear migrationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process phospholipase C-activating dopamine receptor signaling pathwayIEA:Ensembl
Biological Process plasma membrane organizationBy SimilarityISS:ARUK-UCL
Biological Process positive regulation of intrinsic apoptotic signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of ion transmembrane transportIEA:Ensembl
Biological Process protein localization to plasma membraneManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein-containing complex assemblyManual Assertion Based On ExperimentTAS:ProtInc
Biological Process regulation of cell shapeManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of cell sizeManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of protein kinase activityISS:UniProtKB
Biological Process regulation of renal phosphate excretionIEA:Ensembl
Biological Process regulation of sodium:proton antiporter activity1 PublicationNAS:UniProtKB
Biological Process renal absorptionISS:UniProtKB
Biological Process renal phosphate ion absorptionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process renal sodium ion transportIEA:Ensembl
Biological Process sensory perception of soundIEA:Ensembl
Biological Process transport across blood-brain barrier1 PublicationNAS:ARUK-UCL
Biological Process Wnt signaling pathwayIEA:UniProtKB-KW

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. Colocalizes with CFTR at the midpiece of sperm tail (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.

Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2):
A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.

Phosphorylated on serine residues.