InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC9A3R1

Summary

InnateDB Protein

IDBP-67531.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC9A3R1

Protein Name

solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1

Synonyms

EBP50; NHERF; NHERF-1; NHERF1; NPHLOP2;

Species

Homo sapiens

Ensembl Protein

ENSP00000262613

InnateDB Gene

IDBG-67529 (SLC9A3R1)

Protein Structure

UniProt Annotation

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 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:0000250, ECO:0000269PubMed:10499588, ECO:0000269PubMed:18784102, ECO:0000269PubMed:9096337, ECO:0000269PubMed:9430655}.

Subcellular Localization

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}.

Disease Associations

Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269PubMed:18784102, ECO:0000269PubMed:22506049}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in liver, kidney, pancreas, prostate, spleen, small intestine and placenta, in particular in the syncytiotrophoblast. {ECO:0000269PubMed:9096337, ECO:0000269PubMed:9314537}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 109 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	109 [view]
Protein-Protein	109 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005515	protein binding
GO:0008013	beta-catenin binding
GO:0017081	chloride channel regulator activity
GO:0019902	phosphatase binding
GO:0019904	protein domain specific binding
GO:0030165	PDZ domain binding
GO:0031698	beta-2 adrenergic receptor binding
GO:0032403	protein complex binding
GO:0032947	protein complex scaffold
GO:0043621	protein self-association
GO:0050780	dopamine receptor binding
GO:0070851	growth factor receptor binding

Biological Process

GO:0003096	renal sodium ion transport
GO:0006461	protein complex assembly
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway
GO:0008285	negative regulation of cell proliferation
GO:0010642	negative regulation of platelet-derived growth factor receptor signaling pathway
GO:0010766	negative regulation of sodium ion transport
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling
GO:0016055	Wnt signaling pathway
GO:0030033	microvillus assembly
GO:0030036	actin cytoskeleton organization
GO:0030336	negative regulation of cell migration
GO:0030643	cellular phosphate ion homeostasis
GO:0032415	regulation of sodium:hydrogen antiporter activity
GO:0032416	negative regulation of sodium:hydrogen antiporter activity
GO:0032782	bile acid secretion
GO:0034613	cellular protein localization
GO:0034635	glutathione transport
GO:0044062	regulation of excretion
GO:0045859	regulation of protein kinase activity
GO:0051898	negative regulation of protein kinase B signaling
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway
GO:0070293	renal absorption
GO:0070373	negative regulation of ERK1 and ERK2 cascade
GO:0097291	renal phosphate ion absorption
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway

Cellular Component

GO:0001726	ruffle
GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0005886	plasma membrane
GO:0005902	microvillus
GO:0012505	endomembrane system
GO:0015629	actin cytoskeleton
GO:0016020	membrane
GO:0016324	apical plasma membrane
GO:0030175	filopodium
GO:0031526	brush border membrane
GO:0031528	microvillus membrane
GO:0043231	intracellular membrane-bounded organelle
GO:0045121	membrane raft
GO:0045177	apical part of cell
GO:0070062	extracellular vesicular exosome
GO:0071944	cell periphery
GO:0097225	sperm midpiece