Nherf1 NHERF family PDZ scaffold protein 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Nherf1provided by RGD
Official Full Name: NHERF family PDZ scaffold protein 1provided by RGD
Primary source: RGD:708538
See related: Ensembl:ENSRNOG00000003232 AllianceGenome:RGD:708538
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Slc9a3r1
Summary: Enables several functions, including PDZ domain binding activity; myosin II binding activity; and protein N-terminus binding activity. Contributes to gamma-aminobutyric acid transmembrane transporter activity. Involved in gamma-aminobutyric acid import; import across plasma membrane; and positive regulation of ion transmembrane transport. Located in several cellular components, including apical plasma membrane; membrane raft; and microvillus membrane. Part of plasma membrane protein complex. Biomarker of hypertension. 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: Biased expression in Kidney (RPKM 1097.1), Thymus (RPKM 292.6) and 8 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q32.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (100902165..100919265)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (100403189..100420290)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (103713045..103730145)

Chromosome 10 - NC_086028.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The purpose of this study was to clarify the assembly of taurine transporter (TauT/Slc6a6) and PSD-95/Disc-large/Zo-1 (PDZ) domain of Slc9a3r1 as a regulatory mechanism of Slc6a6-mediated GABA transport activity
Title: Assembly of Taurine Transporter (Slc6a6) with Na(+)-H(+) Exchanger Regulatory Factor 1 (Slc9a3r1) Improves GABA Transport Activity by Increasing the Maximum Transport Velocity.
The results suggest that NHERF1 and NHERF2 down-regulated SR-B1 at least in part via the ubiquitin/proteasome pathway.
Title: NHERF1 and NHERF2 regulation of SR-B1 stability via ubiquitination and proteasome degradation.
These results suggest that decreased renal NHERF-1 expression contributes to the impaired dopamine-mediated inhibition of NKA in PTCs from animal models of hypertension.
Title: Loss of NHERF-1 expression prevents dopamine-mediated Na-K-ATPase regulation in renal proximal tubule cells from rat models of hypertension: aged F344 rats and spontaneously hypertensive rats.
data establish NHERF1 and NHERF2 as SR-BI protein binding partners that play a negative role in the regulation of SR-BI expression, selective CE transport, and steroidogenesis.
Title: Regulation of expression and function of scavenger receptor class B, type I (SR-BI) by Na+/H+ exchanger regulatory factors (NHERFs).
that NHERF1 associates with NaPi-2b in enterocytes and regulates NaPi-2b adaptation.
Title: NHE3 regulatory factor 1 (NHERF1) modulates intestinal sodium-dependent phosphate transporter (NaPi-2b) expression in apical microvilli.
EBP50 is involved in the regulation of vascular smooth muscle cell migration and cytokinesis
Title: EBP50 is involved in the regulation of vascular smooth muscle cell migration and cytokinesis.
Dynamic Na+-H+ exchanger regulatory factor-1 association and dissociation regulate parathyroid hormone receptor trafficking at membrane microdomains
Title: Dynamic Na+-H+ exchanger regulatory factor-1 association and dissociation regulate parathyroid hormone receptor trafficking at membrane microdomains.
The cochlear localization of NHERF scaffolds suggests that they play important roles in the developmental regulation of ion transport, homeostasis, and auditory neurotransmission.
Title: Postnatal developmental expression of the PDZ scaffolds Na+ -H+ exchanger regulatory factors 1 and 2 in the rat cochlea.
EBP50 redistribute apically in rat uterine epithelial cells at the time of implantation and in response to cell contact.(
Title: Ezrin and EBP50 redistribute apically in rat uterine epithelial cells at the time of implantation and in response to cell contact.
NHERF1 bound to an internal PDZ binding motif in megalin and that a loss of a single threonine residue abolished the interaction between megalin and NHERF1.
Title: Na+-H+ exchanger regulatory factor 1 (NHERF1) PDZ scaffold binds an internal binding site in the scavenger receptor megalin.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
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 chloride channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info
enables dopamine receptor binding	ISO Inferred from Sequence Orthology more info
contributes_to gamma-aminobutyric acid transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables myosin II binding	IDA Inferred from Direct Assay 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	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
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	IPI Inferred from Physical Interaction more info	PubMed
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
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adenylate cyclase-activating dopamine receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within auditory receptor cell stereocilium organization	ISO Inferred from Sequence Orthology more info
involved_in bile acid secretion	ISO Inferred from Sequence Orthology more info
involved_in bile acid secretion	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cerebrospinal fluid circulation	ISO Inferred from Sequence Orthology more info
involved_in cilium organization	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of localization in cell	ISO Inferred from Sequence Orthology more info
acts_upstream_of fibroblast migration	ISO Inferred from Sequence Orthology more info
involved_in gamma-aminobutyric acid import	IGI Inferred from Genetic Interaction more info	PubMed
involved_in gland morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in glutathione transport	ISO Inferred from Sequence Orthology more info
involved_in glutathione transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in import across plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within intracellular phosphate ion homeostasis	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell motility	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
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 phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of platelet-derived growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of platelet-derived growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of sodium ion transport	ISO Inferred from Sequence Orthology more info
involved_in nuclear migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within phospholipase C-activating dopamine receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in plasma membrane organization	ISO Inferred from Sequence Orthology more info
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	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein localization	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within regulation of renal phosphate excretion	ISO Inferred from Sequence Orthology more info
involved_in renal absorption	ISO Inferred from Sequence Orthology more info
involved_in renal absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in renal phosphate ion absorption	ISO Inferred from Sequence Orthology more info
involved_in renal phosphate ion absorption	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within renal sodium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info
acts_upstream_of sodium ion transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical part of cell	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
located_in cell periphery	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in filopodium	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in microvillus	ISO Inferred from Sequence Orthology more info
located_in microvillus membrane	IDA Inferred from Direct Assay more info	PubMed
NOT located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
part_of plasma membrane protein complex	IPI Inferred from Physical Interaction more info	PubMed
located_in ruffle	IEA Inferred from Electronic Annotation more info
located_in sperm midpiece	ISO Inferred from Sequence Orthology more info
located_in sperm midpiece	ISS Inferred from Sequence or Structural Similarity more info
located_in stereocilium	ISO Inferred from Sequence Orthology more info
located_in stereocilium tip	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: Na(+)/H(+) exchange regulatory cofactor NHE-RF1

Names: EBP50; ERM-binding phosphoprotein; NHERF-1; SLC9A3 regulator 1; 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; solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), 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_021594.1 → NP_067605.1 Na(+)/H(+) exchange regulatory cofactor NHE-RF1

See identical proteins and their annotated locations for NP_067605.1

Status: PROVISIONAL

Source sequence(s)

AF154336

UniProtKB/Swiss-Prot

Q9JJ19

UniProtKB/TrEMBL

A6HKK8

Related

ENSRNOP00000004351.1, ENSRNOT00000004351.5

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:232 → 356

EBP50_C; EBP50, C-terminal