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

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: human all
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Genomic context

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Na(+)/H(+) Exchanger Regulatory Factor 1 Mediates the Pathogenesis of Airway Inflammation in a Murine Model of House Dust Mite-Induced Asthma.
Title: Na(+)/H(+) Exchanger Regulatory Factor 1 Mediates the Pathogenesis of Airway Inflammation in a Murine Model of House Dust Mite-Induced Asthma.
A Critical Role for Na(+)/H(+) Exchanger Regulatory Factor 1 in Modulating FcepsilonRI-Mediated Mast Cell Activation.
Title: A Critical Role for Na(+)/H(+) Exchanger Regulatory Factor 1 in Modulating FcεRI-Mediated Mast Cell Activation.
These data suggest that NHERF1 loss increases susceptibility to Acute Kidney Injury.
Title: Loss of the Na(+)/H(+) Exchange Regulatory Factor 1 Increases Susceptibility to Cisplatin-Induced Acute Kidney Injury.
during lactation, NHERF1 is required for the proper expression and apical localization of PMCA2, which, in turn, contributes to preventing the premature activation of Stat3 and the lysosome-mediated cell death pathway that usually occur only early in mammary involution.
Title: NHERF1 Is Required for Localization of PMCA2 and Suppression of Early Involution in the Female Lactating Mammary Gland.
Results suggest a role for circadian clock protein PERIOD 2 (PER2) in regulating the diurnal expression of Na(+)/H(+) exchanger regulatory factor-1 (NHERF1) in liver.
Title: Circadian clock component PERIOD2 regulates diurnal expression of Na(+)/H(+) exchanger regulatory factor-1 and its scaffolding function.
The results suggested that NHERF1 played an essential role in regulating liver cancer progression, and repressing NHERF1 expression exhibited significant anticancer effects via the induction of G0/G1 phase arrest, apoptosis and reactive oxygen species generation.
Title: Repressing of NHERF1 inhibits liver cancer progression by promoting the production of ROS.
our data identify EBP50 as a previously unidentified regulator of Nox1 and support that it promotes Nox1 activity by binding p47(phox) This interaction is pivotal for agonist-induced smooth muscle ROS, hypertrophy, and vasoconstriction and has implications for ROS-mediated physiological and pathophysiological processes.
Title: Binding of EBP50 to Nox organizing subunit p47phox is pivotal to cellular reactive species generation and altered vascular phenotype.
The results provide evidence that NHERF1 mediates K(+) current activity through acceleration of the surface expression of ROMK1 K(+) channels in M-1 cells.
Title: Na(+)/H(+) exchange regulatory factor 1 is required for ROMK1 K(+) channel expression in the surface membrane of cultured M-1 cortical collecting duct cells.
The NHERF1 is as putative molecular organizer of signal transduction in vomeronasal neurons.
Title: NHERF1 in Microvilli of Vomeronasal Sensory Neurons.
we show here that NHERF1 loss from the PM is oncogenic in vivo through its influence on Wnt-APC-beta-catenin and Hippo-YAP pathways.
Title: NHERF1/EBP50 Suppresses Wnt-β-Catenin Pathway-Driven Intestinal Neoplasia.

Submit: New GeneRIF Correction See all GeneRIFs (63)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Slc9a3r1 (e-PCR), detects polymorphism
- UniSTS:532288

Slc9a3r1 (e-PCR), detects polymorphism
- UniSTS:525946

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-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

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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)

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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)

NM_012030.2 → NP_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:12 → 91

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:230 → 355

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

115054138..115072009

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (2) summary

smart00228
Location:146 → 196

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:12 → 91

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) ...