DISEASES

Disease-gene associations mined from literature

Literature on SLC9A3R1

SLC9A3R1 [ENSP00000262613]

Na(+)/H(+) exchange regulatory cofactor NHE-RF1; 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. ECO:0000269|PubMed:10499588, ECO:0000269|PubMed:18784102,

Synonyms:  SLC9A3R1,  J3QRA3,  J3QRP6,  O14745,  J3QRA3p ...

Linkouts:  STRING  Pharos  UniProt  OMIM