SLC9A3R1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SLC9A3R1 |
| Official Name | SLC9A3 regulator 1 [Source:HGNC Symbol;Acc:HGNC:11075] |
| Ensembl ID | ENSG00000109062 |
| Bio databases IDs | |
| Aliases | SLC9A3 regulator 1 |
| Synonyms | EBP-50, NHE-RF, NHERF family PDZ scaffold protein 1, NPHLOP2, SLC9A3R1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC9A3R1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- ermad domain
- channel regulator
- growth factor receptor binding
- beta-catenin binding
- G-protein-coupled receptor binding
- EBP50, C-terminal
- canonical PDZ domain
- protein domain specific binding
- protein binding
- receptor binding
- gamma-aminobutyrate transporter
- chloride channel regulator
- PDZ domain
- identical protein binding
- PDZ-domain binding
- ERM binding domain
- FERM domain
- binding protein
- ion channel binding
- myosin II binding
- transporter
- phosphatase binding
- cpPDZ_RseP_YlbL-like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypophosphatemia
- glioblastoma
- glioblastoma cancer
- breast cancer
- anaplastic astrocytoma
- formation of anaplastic astrocytoma
- renal cell cancer
- cystic fibrosis
- primary biliary cirrhosis
- hypophosphatemic nephrolithiasis/osteoporosis type 2
role in cell
- apoptosis
- expression in
- replication in
- activation in
- growth
- proliferation
- function in
- phosphorylation in
- production in
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- stereocilia tip
- S-layer
- outer hair cell bundle
- Cytoplasm
- invadopodia
- cell surface
- cell periphery
- apical compartment
- perinuclear region
- cellular membrane
- actin cytoskeleton
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- cytosol
- stereocilia
- apical cell surfaces
- apical membrane
- basal membrane
- lateral plasma membrane
- sperm midpiece
- nodes of Ranvier
- peroxisomes
- anchoring junction
- membrane rafts
- brush border
- pseudopodia
- microvilli
- cell-cell adherens junctions
- apical processes
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC9A3R1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- auditory receptor cell stereocilium organization
- regulation of cell shape
- adenylate cyclase-activating dopamine receptor signaling pathway
- negative regulation of cell proliferation
- nuclear migration
- regulation of cell size
- renal sodium ion transport
- renal phosphate ion absorption
- sensory perception of sound
- plasma membrane organization
- maintenance of epithelial cell apical/basal polarity
- establishment of Golgi localization
- establishment of epithelial cell apical/basal polarity
- Wnt receptor signaling pathway
- bile acid secretion
- positive regulation of intrinsic apoptotic signaling pathway
- positive regulation of ion transmembrane transport
- cellular phosphate ion homeostasis
- regulation of protein kinase activity
- macromolecular complex assembly
- gamma-aminobutyric acid import
- negative regulation of mitotic cell cycle
- gland morphogenesis
- phospholipase C-activating dopamine receptor signaling pathway
- negative regulation of canonical Wnt receptor signaling pathway
- renal absorption
- morphogenesis of an epithelium
- negative regulation of ERK1 and ERK2 cascade
- microvillus assembly
- negative regulation of fibroblast migration
- negative regulation of sodium ion transport
- fibroblast migration
- actin cytoskeleton organization
- protein localization in plasma membrane
- negative regulation of platelet-derived growth factor receptor signaling pathway
- glutathione transport
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- microvillus membrane
- nucleus
- extracellular vesicular exosome
- brush border membrane
- perinuclear region of cytoplasm
- sperm midpiece
- microvillus
- cytoplasm
- membrane
- actin cytoskeleton
- ruffle
- filopodium
- vesicle
- endomembrane system
- stereocilium bundle tip
- apical plasma membrane
- cell periphery
Molecular Function
What the gene product does at the molecular level
- phosphatase binding
- identical protein binding
- L-gamma-aminobutyric acid transmembrane transporter activity
- myosin II binding
- beta-catenin binding
- ion channel binding
- receptor binding
- chloride channel regulator activity
- type 3 metabotropic glutamate receptor binding
- protein binding
- dopamine receptor binding
- protein anchor
- PDZ domain binding
- growth factor receptor binding
- type 2 metabotropic glutamate receptor binding
- beta-2 adrenergic receptor binding