Protein Slc9a3r1

URN	urn:agi-llid:9368
Connectivity	190
Name	Slc9a3r1
Description	solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
Notes	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.

Pathway	parathyroid hormone signaling pathway

GO Molecular Function	protein C-terminus binding
	PDZ domain binding
	beta-2 adrenergic receptor binding

GO Cellular Component	apical part of cell
	endomembrane system
	cell projection
	membrane
	plasma membrane
	ruffle
	microvillus
	filopodium
	cytoplasm
	intracellular membrane-bounded organelle
	actin cytoskeleton
	apical plasma membrane

GO Biological Process	cAMP-mediated signaling
	regulation of sodium:hydrogen antiporter activity
	cellular phosphate ion homeostasis
	protein complex assembly
	Wnt receptor signaling pathway

Ariadne Ontology	Other transport proteins

Group	Other transport proteins
	cAMP-mediated signaling
	regulation of sodium:hydrogen antiporter activity
	cellular phosphate ion homeostasis
	protein complex assembly
	Wnt receptor signaling pathway
	protein C-terminus binding
	PDZ domain binding
	beta-2 adrenergic receptor binding
	apical part of cell
	endomembrane system
	cell projection
	membrane
	plasma membrane
	ruffle
	microvillus
	filopodium
	cytoplasm
	intracellular membrane-bounded organelle
	actin cytoskeleton
	apical plasma membrane

MedScan ID	9368

Hugo ID	11075

Human chromosome position	17q25.1

Alias	EBP50
	NHERF
	NHERF1
	NPHLOP2
	Na(+)/H(+) exchange regulatory cofactor NHE-RF1
	NHERF-1
	Na+/H+ exchange regulatory co-factor
	regulatory cofactor of Na(+)/H(+) exchanger
	sodium-hydrogen exchanger regulatory factor 1
	sodium/hydrogen exchanger regulatory factor 1
	ezrin-radixin-moesin binding phosphoprotein-50
	ezrin-radixin-moesin-binding phosphoprotein 50
	solute carrier family 9 isoform A3 regulatory factor 1
	solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1
	EBP-50
	NHE-RF
	MGC95776
	RP23-342L24.4
	OTTMUSP00000003814
	solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1
	ERM-binding phosphoprotein
	Ezrin-binding phosphoprotein 50 kD
	Ezrin-binding phosphoprotein 50 kD/regulatory factor
	LOC59114
	Na /H antiporter 3 regulatory factor 1
	Na /H antiporter 3 regulatory factor I
	Na(+)/H(+) antiporter 3 regulatory factor 1
	Na(+)/H(+) antiporter 3 regulatory factor I
	NHERF I
	SLC9A3R I
	SLC9A3R1
	Sodium/hydrogen antiporter 3 regulatory factor 1
	Sodium/hydrogen antiporter 3 regulatory factor I
	sodium-hydrogen exchanger regulatory factor
	solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator I
	solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory f

OMIM ID	604990
	612287

Mouse chromosome position	11

Rat chromosome position	10q32.2

Homologene ID	3137

RGD ID	708538

MGI ID	1349482