This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
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 cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus.
Subcellular Location:
Endomembrane system. Nucleus. Apical cell membrane. Localizes with EZR and PODXL at the apical cell membrane of glomerular epithelium cells and the sides of the food processes (By similarity). Nuclear, in a punctate pattern.
Tissue Specificity:
Widely expressed.
Similarity:
Contains 2 PDZ (DHR) domains.
SWISS:
Q15599
Gene ID:
9351
Database links:
Entrez Gene: 713605 Cow
Entrez Gene: 9351 Human
Entrez Gene: 65962 Mouse
Entrez Gene: 100008813 Rabbit
Entrez Gene: 116501 Rat
Omim: 606553 Human
SwissProt: Q15599 Human
SwissProt: Q9JHL1 Mouse
SwissProt: Q8SQG9 Rabbit
SwissProt: Q920G2 Rat
Unigene: 88896 Human
Unigene: 21587 Mouse
Unigene: 39351 Rat
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