NHERF1
Function
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.
Involvement in disease
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
NPHLOP2
A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated on serine residues.
Tissue Specificity
Detected in liver, kidney, pancreas, prostate, spleen, small intestine and placenta, in particular in the syncytiotrophoblast.
Cellular localization
- Cytoplasm
- Apical cell membrane
- Endomembrane system
- Peripheral membrane protein
- 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.
Alternative names
NHERF, SLC9A3R1, NHERF1, Na(+)/H(+) exchange regulatory cofactor NHE-RF1, NHERF-1, Ezrin-radixin-moesin-binding phosphoprotein 50, Regulatory cofactor of Na(+)/H(+) exchanger, Sodium-hydrogen exchanger regulatory factor 1, Solute carrier family 9 isoform A3 regulatory factor 1, EBP50