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Slc9a3r1
Gene Detail
 Symbol
Name
ID
Slc9a3r1
solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
MGI:1349482
Synonyms EBP-50, NHE-RF, NHERF1, sodium-hydrogen exchanger regulatory factor
Feature Type protein coding gene
Genetic Map
Chromosome 11
80.65 cM, cytoband E2
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:115163341-115181181 bp, + strand
From VEGA annotation of GRCm38

  17841 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3137  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Protein SuperFamily: Na(+)/H(+) exchange regulatory cofactor NHE-RF
Gene Tree: Slc9a3r1

Human
homologs
Human Homolog SLC9A3R1, solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
NCBI Gene ID 9368
neXtProt AC  NX_O14745
Human Synonyms  EBP50, NHERF, NHERF1, NHERF-1, NPHLOP2
Human Chr (Location)  17q25.1; chr17:74748612-74769360 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SLC9A3R1
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(6) Targeted(5)
 
For one allele homozygous null mice exhibit renal phosphate wasting, reduced fertility and high female mortality rate at birth and postnatally. For a second allele homozygous null mice exhibit hypophosphatemia, increased intestinal goblet cell numbers and abnormal intestinal epithelial cells.
 
Interactions
Slc9a3r1 interacts with 96 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (67 annotations)
Process actin cytoskeleton organization, adenylate cyclase-activating dopamine receptor signaling pathway, ...
Component apical part of cell, apical plasma membrane, ...
Function beta-2 adrenergic receptor binding, beta-catenin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (332)    Tissues (74)    Images (28)
Theiler Stages: 18, 23
Assay TypeResults
RNA in situ 330
RT-PCR 2
cDNA source data(115)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(118) cDNA(116) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000003641 (Evidence)
Ensembl Gene ModelENSMUSG00000020733 (Evidence)
Entrez Gene26941 (Evidence)
UniGene27842
DFCITC1572134, TC1769959
DoTSDT.101304759, DT.495333, DT.91402093, DT.94351277
NIA Mouse Gene IndexU013533
Consensus CDS ProjectCCDS36370.1
International Mouse Knockout Project StatusSlc9a3r1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003641 VEGA Gene Model | MGI Sequence Detail 17841 C57BL/6J ±  kb
transcript OTTMUST00000007862 VEGA | MGI Sequence Detail 1925 Not Applicable 
polypeptide OTTMUSP00000003814 VEGA | MGI Sequence Detail 355 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(165 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR015098 EBP50, C-terminal
InterPro IPR017300 Na(+)/H(+) exchange regulatory cofactor NHE-RF
InterPro IPR001478 PDZ domain
Protein Ontology PR:000001041 Na(+)/H(+) exchange regulatory cofactor NHE-RF1
References (Earliest) J:57785 Weinman EJ, et al., Molecular cloning of the cDNA and promoter sequences for the mouse sodium-hydrogen exchanger regulatory factor. Biochim Biophys Acta. 1999 Oct 6;1447(1):71-6
(Latest) J:207196 Leslie KL, et al., Ezrin-radixin-moesin-binding phosphoprotein 50 (EBP50) and nuclear factor-kappaB (NF-kappaB): a feed-forward loop for systemic and vascular inflammation. J Biol Chem. 2013 Dec 20;288(51):36426-36
All references(70)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory