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; chr17:72744751-72765499 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SLC9A3R1

Alleles and phenotypes

All alleles(10) : Targeted(4) Gene trapped(6)
 

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.

 

Gene Ontology (GO) classifications

All GO classifications: (56 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 Type	Results
RNA in situ	330
RT-PCR	2

cDNA source data(115)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(117) cDNA(115) 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 Knockout Project Status	Slc9a3r1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000003641	VEGA Gene Model | MGI Sequence Detail	17841	C57BL/6J
transcript	OTTMUST00000007862	VEGA | MGI Sequence Detail	1925	Not Applicable
polypeptide	OTTMUSP00000003814	VEGA | MGI Sequence Detail	355	Not Applicable

All sequences(33) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(99 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193822 Lumayag S, et al., Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E507-16
All references(65)