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Nherf1 NHERF family PDZ scaffold protein 1 [ Mus musculus (house mouse) ]

Gene ID: 26941, updated on 5-Mar-2024

Summary

Official Symbol
Nherf1provided by MGI
Official Full Name
NHERF family PDZ scaffold protein 1provided by MGI
Primary source
MGI:MGI:1349482
See related
Ensembl:ENSMUSG00000020733 AllianceGenome:MGI:1349482
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
EBP-50; NHE-RF; NHERF-1; Slc9a3r1
Summary
Enables dopamine receptor binding activity and phosphatase binding activity. Involved in several processes, including maintenance of epithelial cell apical/basal polarity; negative regulation of signal transduction; and organic anion transport. Acts upstream of or within several processes, including auditory receptor cell stereocilium organization; cellular phosphate ion homeostasis; and dopamine receptor signaling pathway. Located in several cellular components, including brush border membrane; sperm midpiece; and stereocilium tip. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; pleura; and sensory organ. Human ortholog(s) of this gene implicated in hypophosphatemic nephrolithiasis/osteoporosis 2. Orthologous to human SLC9A3R1 (SLC9A3 regulator 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in large intestine adult (RPKM 268.1), small intestine adult (RPKM 265.0) and 20 other tissues See more
Orthologs
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Genomic context

See Nherf1 in Genome Data Viewer
Location:
11 E2; 11 80.65 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (115054138..115072009)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (115163341..115181178)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_31142 Neighboring gene CD300E molecule Neighboring gene STARR-seq mESC enhancer starr_31143 Neighboring gene STARR-seq mESC enhancer starr_31145 Neighboring gene STARR-positive B cell enhancer mm9_chr11:114966559-114966859 Neighboring gene STARR-positive B cell enhancer mm9_chr11:114967952-114968253 Neighboring gene RAB37, member RAS oncogene family Neighboring gene CD300 molecule like family member F Neighboring gene STARR-positive B cell enhancer ABC_E11499 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:115019296-115019604 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:115024157-115024344 Neighboring gene STARR-positive B cell enhancer ABC_E91 Neighboring gene STARR-positive B cell enhancer mm9_chr11:115048516-115048817 Neighboring gene transmembrane protein 104 Neighboring gene N-acetyltransferase 9 (GCN5-related, putative) Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:115088135-115088322 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:115088428-115088537 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:115092913-115093101 Neighboring gene glutamate receptor, ionotropic, NMDA2C (epsilon 3)

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (3) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC95776

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables PDZ domain binding ISO
Inferred from Sequence Orthology
more info
 
enables beta-2 adrenergic receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables beta-catenin binding ISO
Inferred from Sequence Orthology
more info
 
enables channel activator activity ISO
Inferred from Sequence Orthology
more info
 
enables chloride channel regulator activity ISO
Inferred from Sequence Orthology
more info
 
enables dopamine receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to gamma-aminobutyric acid transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables growth factor receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables molecular adaptor activity ISO
Inferred from Sequence Orthology
more info
 
enables myosin II binding ISO
Inferred from Sequence Orthology
more info
 
enables phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables phosphatase binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
 
enables protein self-association ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables protein-membrane adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables signaling receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables transmembrane transporter binding ISO
Inferred from Sequence Orthology
more info
 
enables type 2 metabotropic glutamate receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables type 3 metabotropic glutamate receptor binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within adenylate cyclase-activating dopamine receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within auditory receptor cell stereocilium organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in bile acid secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cerebrospinal fluid circulation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cerebrospinal fluid circulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of Golgi localization ISO
Inferred from Sequence Orthology
more info
 
involved_in establishment of epithelial cell apical/basal polarity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of establishment of localization in cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within establishment of localization in cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of fibroblast migration IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in gamma-aminobutyric acid import ISO
Inferred from Sequence Orthology
more info
 
involved_in gland morphogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in glutathione transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in import across plasma membrane ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within intracellular phosphate ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in maintenance of epithelial cell apical/basal polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in maintenance of epithelial cell apical/basal polarity ISO
Inferred from Sequence Orthology
more info
 
involved_in microvillus assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of ERK1 and ERK2 cascade ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of canonical Wnt signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of fibroblast migration IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of mitotic cell cycle ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of platelet-derived growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of sodium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of sodium:proton antiporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nuclear migration ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within phospholipase C-activating dopamine receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in plasma membrane organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of intrinsic apoptotic signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of monoatomic ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein localization to plasma membrane ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cell shape ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cell size ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of renal phosphate excretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in renal absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in renal phosphate ion absorption ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within renal sodium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of sodium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in apical part of cell IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell periphery ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in microvillus ISO
Inferred from Sequence Orthology
more info
 
located_in microvillus membrane ISO
Inferred from Sequence Orthology
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
part_of plasma membrane protein complex ISO
Inferred from Sequence Orthology
more info
 
located_in sperm midpiece IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilium tip IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
Na(+)/H(+) exchange regulatory cofactor NHE-RF1
Names
EBP50
ezrin-radixin-moesin-binding phosphoprotein 50
regulatory cofactor of Na(+)/H(+) exchanger
sodium-hydrogen exchanger regulatory factor 1
solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012030.2NP_036160.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF1

    See identical proteins and their annotated locations for NP_036160.1

    Status: VALIDATED

    Source sequence(s)
    AK153558, BB660628
    Consensus CDS
    CCDS36370.1
    UniProtKB/Swiss-Prot
    P70441, Q8BYD8
    UniProtKB/TrEMBL
    Q3TG37
    Related
    ENSMUSP00000021077.4, ENSMUST00000021077.4
    Conserved Domains (2) summary
    cd00992
    Location:1291
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam09007
    Location:230355
    EBP50_C; EBP50, C-terminal

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    115054138..115072009
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036156735.1XP_036012628.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF1 isoform X1

    Conserved Domains (2) summary
    smart00228
    Location:146196
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:1291
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...