Symbol: Name: ID: |
SLC9A3R1 solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 GFS:989 |
Gene name: | SLC9A3R1 |
Chromosome: | 17q25.1 |
Previous Symbols: | |
Previous Names: | solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1, "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1" |
Aliases: | NHERF, EBP50 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1349482 | Rat Genome Database ID: | RGD:708538 |
HGNC ID: | HGNC:11075 | RefSeq IDs: | NM_004252 |
Entrez Gene ID: | 9368 | Ensembl Gene ID: | ENSG00000109062 |
VEGA IDs: | UniProt ID: | O14745 | |
UCSC ID: | uc002jlo.2 | OMIM ID: | 604990 |
Pubmed: | PMID9314537 PMID 9430655 | ||
CCDS IDs: | CCDSCCDS11705.1 |
Sodium-hydrogen antiporter 3 regulator 1 is a regulator of Sodium-hydrogen antiporter 3. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
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.
Products for SLC9A3R1 gene
Catalog | Product Name | Application | Company |
GFS:E00989 | solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1; ELISA kit | ELISA | n/a |
GFS:A00989 | solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1; Anti | ANTIBODIES | n/a |
GFS:P00989 | solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1; Protien | Protien | n/a |