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NHERF1 - NHERF family PDZ scaffold protein 1 Gene

Also Known as EBP50; NHERF; NHE-RF; NHERF-1; NPHLOP2; SLC9A3R1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9368

Summary

This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast Cancer.[provided by RefSeq, Sep 2009]

NHERF1 Products (1)

mRNA	Protein	Name
NM_004252.5	NP_004243.1	Na(+)/H(+) exchange regulatory cofactor NHE-RF1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables PDZ domain binding	IPI IPI: Inferred from physical interaction	16236806	GOA
enables beta-2 adrenergic receptor binding	IPI IPI: Inferred from physical interaction	9560162	GOA
enables beta-catenin binding	IPI IPI: Inferred from physical interaction	17242191	GOA
enables channel activator activity	IDA IDA: Inferred from direct assay	9560162	GOA
enables chloride channel regulator activity	IDA IDA: Inferred from direct assay	12881487	GOA
enables growth factor receptor binding	IPI IPI: Inferred from physical interaction	17242191	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	19446522	GOA
enables phosphatase binding	IPI IPI: Inferred from physical interaction	16456542	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9430655	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	16456542	GOA
enables type 2 metabotropic glutamate receptor binding	IPI IPI: Inferred from physical interaction	28392297	GOA
enables type 3 metabotropic glutamate receptor binding	IPI IPI: Inferred from physical interaction	28392297	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in establishment of Golgi localization	IMP IMP: Inferred from mutant phenotype	24862762	GOA
involved in establishment of epithelial cell apical/basal polarity	IMP IMP: Inferred from mutant phenotype	24862762	GOA
involved in gland morphogenesis	IMP IMP: Inferred from mutant phenotype	24862762	GOA
involved in maintenance of epithelial cell apical/basal polarity	IMP IMP: Inferred from mutant phenotype	25775275	GOA
involved in microvillus assembly	IMP IMP: Inferred from mutant phenotype	20937695	GOA
involved in negative regulation of ERK1 and ERK2 cascade	IDA IDA: Inferred from direct assay	20012548	GOA
involved in negative regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	24862762	GOA
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	20012548	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	20736378	GOA
involved in negative regulation of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	24862762	GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	20736378	GOA
involved in nuclear migration	IMP IMP: Inferred from mutant phenotype	24862762	GOA
involved in positive regulation of intrinsic apoptotic signaling pathway	IDA IDA: Inferred from direct assay	20012548	GOA
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	24862762	GOA
involved in regulation of cell shape	IMP IMP: Inferred from mutant phenotype	24862762	GOA
involved in regulation of cell size	IMP IMP: Inferred from mutant phenotype	24862762	GOA
involved in renal phosphate ion absorption	IMP IMP: Inferred from mutant phenotype	18784102	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	22855531	GOA
located in cell periphery	IDA IDA: Inferred from direct assay	17895247	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	17895247	GOA
located in membrane	IDA IDA: Inferred from direct assay	20736378	GOA
located in microvillus	IDA IDA: Inferred from direct assay	17242191	GOA
NOT located in nucleus	IDA IDA: Inferred from direct assay	17895247	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	24862762	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
Na(+)/H(+) exchange regulatory cofactor NHE-RF1	Na(+)/H(+) exchange regulatory cofactor 1

NHERF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NHERF1	O14745	NF2	Homo sapiens	P35240-1	Pull Down	9430655
Intra	NHERF1	O14745	NF2	Homo sapiens	P35240-1	IF	9430655
Intra	NHERF1	O14745	NF2	Homo sapiens	P35240-1	Y2H	9430655
Intra	NHERF1	O14745	EZR	Homo sapiens	P15311	Y2H Fragment Pooling	23414517
Intra	NHERF1	O14745	EZR	Homo sapiens	P15311	Affinity Chrom	15020681
Intra	NHERF1	O14745	EZR	Homo sapiens	P15311	Pull Down	20937695
Intra	NHERF1	O14745	EZR	Homo sapiens	P15311	Confocal	20937695
Intra	NHERF1	O14745	PHLPP1	Homo sapiens	O60346-2	Filter Binding	21804599
Intra	NHERF1	O14745	DLGAP4	Homo sapiens	Q9Y2H0-1	Validated Y2H	32296183
Intra	NHERF1	O14745	DLGAP4	Homo sapiens	Q9Y2H0-1	Y2H Prey Pooling	32296183
Intra	NHERF1	O14745	DLGAP4	Homo sapiens	Q9Y2H0-1	Y2H Array	32296183
Intra	NHERF1	O14745	PHLPP2	Homo sapiens	Q6ZVD8	Anti Tag CoIP	21804599
Intra	NHERF1	O14745	PHLPP1	Homo sapiens	O60346	Pull Down	21804599
Intra	NHERF1	O14745	PHLPP1	Homo sapiens	O60346	Anti Bait CoIP	21804599
Intra	NHERF1	O14745	CFTR	Homo sapiens	P13569	SPR	17244609
Intra	NHERF1	O14745	CFTR	Homo sapiens	P13569	Filter Binding	9671706
Intra	NHERF1	O14745	CFTR	Homo sapiens	P13569	Pull Down	12471024
Intra	NHERF1	O14745	ADRB2	Homo sapiens	P07550	Filter Binding	9671706
Intra	NHERF1	O14745	ADRB2	Homo sapiens	P07550	Saturation Binding	9671706
Intra	NHERF1	O14745	PDGFRB	Homo sapiens	P09619	Pull Down	24012959
Intra	NHERF1	O14745	PTEN	Homo sapiens	P60484	Pull Down	24012959
Intra	NHERF1	O14745	PTEN	Homo sapiens	P60484	Pull Down	16456542
Intra	NHERF1	O14745	CRABP1	Homo sapiens	P29762	Validated Y2H	32296183
Intra	NHERF1	O14745	CRABP1	Homo sapiens	P29762	Y2H Array	32296183
Intra	NHERF1	O14745	CRABP1	Homo sapiens	P29762	Y2H Prey Pooling	32296183
Intra	NHERF1	O14745	APPBP2	Homo sapiens	Q92624	Y2H Prey Pooling	32296183
Intra	NHERF1	O14745	APPBP2	Homo sapiens	Q92624	Validated Y2H	32296183
Intra	NHERF1	O14745	APPBP2	Homo sapiens	Q92624	Y2H Array	32296183
Intra	NHERF1	O14745	ACE2	Homo sapiens	Q9BYF1	Anti Tag CoIP	34189428
Intra	NHERF1	O14745	ACE2	Homo sapiens	Q9BYF1	Pull Down	34835087
Intra	NHERF1	O14745	ACE2	Homo sapiens	Q9BYF1	PLA	34189428
Intra	NHERF1	O14745	TBC1D10A	Homo sapiens	Q9BXI6	Anti Tag CoIP	33961781
Intra	NHERF1	O14745	TBC1D10A	Homo sapiens	Q9BXI6	Pull Down	20937695
Intra	NHERF1	O14745	TBC1D10A	Homo sapiens	Q9BXI6	Imaging	11285285
Intra	NHERF1	O14745	TBC1D10A	Homo sapiens	Q9BXI6	Filter Binding	11285285
Intra	NHERF1	O14745	P2RY1	Homo sapiens	P47900	Saturation Binding	9671706
Cross	NHERF1	O14745	mGluR1a	Rattus norvegicus	Q9R0W0	Protein Array	19027007

Cross: Cross-species interaction Intra: Intraspecies interaction

NHERF1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83457	EBP50 Antibody (YA3202)	WB, IHC-P	Human, Rat

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150269	RS5517	Inhibitor	95.79%	Unkown
HY-182624	FJ9		/	Unkown
HY-RS09282	NHERF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-P10226	PGD97		/	Unkown