About   Help   FAQ
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; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: SLC9A3R1
Protein SuperFamily: Na(+)/H(+) exchange regulatory cofactor NHE-RF
Gene Tree: Slc9a3r1

Human
homologs
SLC9A3R1, solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
Orthology source: HGNC, HomoloGene

IDs:
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.p2

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 95 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (9 records)
Data Summary: Results (346)    Tissues (80)    Images (44)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 14
RNA in situ 330
RT-PCR 2
cDNA source data(115)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase slc9a3r1 ; ZFIN slc9a3r1    NEW 
Molecular
reagents
All nucleic(118) cDNA(116) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000003641 (Evidence)
Ensembl Gene Model ENSMUSG00000020733 (Evidence)
Entrez Gene 26941 (Evidence)
UniGene 27842
DFCI TC1572134, TC1769959
DoTS DT.101304759, DT.495333, DT.91402093, DT.94351277
NIA Mouse Gene Index U013533
Consensus CDS Project CCDS36370.1
International Mouse Phenotyping Consortium Status Slc9a3r1
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 NHERF
InterPro IPR031199 Na(+)/H(+) exchange regulatory cofactor NHERF-1
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:212101 Kamiya K, et al., An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells. Proc Natl Acad Sci U S A. 2014 Jun 24;111(25):9307-12
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/25/2015
MGI 6.0
The Jackson Laboratory