Version 5.4
Homo sapiens Gene: SLC9A3R1
Summary
InnateDB Gene IDBG-67529.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC9A3R1
Gene Name solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
Synonyms EBP50; NHERF; NHERF-1; NHERF1; NPHLOP2
Species Homo sapiens
Ensembl Gene ENSG00000109062
Encoded Proteins
IDBP-67531
solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
IDBP-759337
IDBP-760725
IDBP-760722
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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.[provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:74748652-74769353
Strand Forward strand
Band q25.1
Transcripts
ENST00000262613 ENSP00000262613
ENST00000413388 ENSP00000464982
ENST00000583369 ENSP00000464321
ENST00000581356 ENSP00000464117
ENST00000578958
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000020733
View Gene Order
ENSBTAG00000011382
Not yet available
Pathways
NETPATH
NetPath_8
Wnt pathway
REACTOME
KEGG
INOH
PID NCI
txa2pathway
Thromboxane A2 receptor signaling
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_004252
HUGO
OMIM
CCDS CCDS11705
HPRD 05406
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca