| Gene Information | |
|---|---|
| Gene Name | NHERF1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 358 |
| Protein Names | Na(+)/H(+) exchange regulatory cofactor NHE-RF1 (NHERF-1) (Ezrin-radixin-moesin-binding phosphoprotein 50) (EBP50) (Regulatory cofactor of Na(+)/H(+) exchanger) (Sodium-hydrogen exchanger regulatory factor 1) (Solute carrier family 9 isoform A3 regulatory factor 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O14745 |
| Gene Card | SLC9A3R1 |
| Uniprot ID | O14745 |
| Pfam | PF09007; PF00595 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Detected in liver, kidney, pancreas, prostate, spleen, small intestine and placenta, in particular in the syncytiotrophoblast. {ECO:0000269|PubMed:9096337, ECO:0000269|PubMed:9314537}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001390(Rat);0.017391(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 1G9O (X-ray 1.50A ) 1GQ4 (X-ray 1.90A ) 1GQ5 (X-ray 2.20A ) 1I92 (X-ray 1.70A ) 1SGH (X-ray 3.50A ) 2D10 (X-ray 2.50A ) 2JXO (NMR - ) 2KJD (NMR - ) 2KRG (NMR - ) 2M0T (NMR - ) 2M0U (NMR - ) 2M0V (NMR - ) 2OZF (X-ray 1.50A ) 4JL7 (X-ray 1.16A ) 4LMM (X-ray 1.10A ) 4MPA (X-ray 1.10A ) 4N6X (X-ray 1.05A ) 4PQW (X-ray 1.47A ) 4Q3H (X-ray 1.44A ) 6RQR (X-ray 2.20A ) |
| DBSNP | rs139622189 rs35910969 rs41282065 rs119486097 |
| Subcellular location [CC] | Cytoplasm {ECO:0000250}. Apical cell membrane {ECO:0000250}. Endomembrane system; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Cell projection, microvillus. Note=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. {ECO:0000250}. |
| Mouse PG classification | NA |
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