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NHERF1 NHERF family PDZ scaffold protein 1 [ Homo sapiens (human) ]

Gene ID: 9368, updated on 5-May-2024

Summary

Official Symbol
NHERF1provided by HGNC
Official Full Name
NHERF family PDZ scaffold protein 1provided by HGNC
Primary source
HGNC:HGNC:11075
See related
Ensembl:ENSG00000109062 MIM:604990; AllianceGenome:HGNC:11075
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EBP50; NHERF; NHE-RF; NHERF-1; NPHLOP2; SLC9A3R1
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]
Expression
Broad expression in small intestine (RPKM 101.8), duodenum (RPKM 91.7) and 23 other tissues See more
Orthologs
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Genomic context

See NHERF1 in Genome Data Viewer
Location:
17q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74748628..74769353)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75640506..75661228)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72744767..72765492)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RAB37, member RAS oncogene family Neighboring gene CD300 molecule like family member f Neighboring gene uncharacterized LOC124904057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72733027-72733750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72734475-72735197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12717 Neighboring gene SLC9A3R1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72743321-72743916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8939 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72745205-72745830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72747322-72747863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72753485-72754231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72754232-72754979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72754980-72755726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72755727-72756474 Neighboring gene microRNA 3615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72759127-72759878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8941 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779452-72779972 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779973-72780491 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:72781052-72781552 Neighboring gene transmembrane protein 104 Neighboring gene N-acetyltransferase 9 (putative) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72808337-72809052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72824331-72824831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72827400-72828320

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypophosphatemic nephrolithiasis/osteoporosis 2
MedGen: C2676782 OMIM: 612287 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env NHERF1 is required for HIV-1 gp120-induced actin rearrangement PubMed
env Binding of HIV-1 gp120 to CCR5 causes NHERF1-mediated activation of RhoA PubMed
env HIV-1 gp120-stimulated cells overexpressing NHERF1 upregulates FAK phosphorylation PubMed
env NHERF1 increases ERK1/2 phosphorylation levels following HIV-1 gp120 stimulation in cells PubMed
env Stimulation of cells with HIV-1 gp120 induces the interaction of endogenous CCR5 with NHERF1, which leads to enhanced CCR5 internalization PubMed
reverse transcriptase gag-pol HIV-1 RT is identified to have a physical interaction with solute carrier family 9, member 3 regulator 1 (SLC9A3R1; NHERF) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables beta-2 adrenergic receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables channel activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables chloride channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables dopamine receptor binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to gamma-aminobutyric acid transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables growth factor receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables myosin II binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
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 IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane transporter binding IEA
Inferred from Electronic Annotation
more info
 
enables type 2 metabotropic glutamate receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables type 3 metabotropic glutamate receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in adenylate cyclase-activating dopamine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in auditory receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
involved_in bile acid secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within cerebrospinal fluid circulation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cilium organization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in establishment of Golgi localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of epithelial cell apical/basal polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in fibroblast migration IEA
Inferred from Electronic Annotation
more info
 
involved_in gamma-aminobutyric acid import ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in gland morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glutathione transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular phosphate ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in microvillus assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within morphogenesis of an epithelium NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of fibroblast migration IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of platelet-derived growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in nuclear migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phospholipase C-activating dopamine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in plasma membrane organization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell size IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of renal phosphate excretion IEA
Inferred from Electronic Annotation
more info
 
involved_in renal absorption ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in renal phosphate ion absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in renal sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in actin cytoskeleton TAS
Traceable Author Statement
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 brush border membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cell periphery IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in endomembrane system IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in filopodium IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in microvillus IDA
Inferred from Direct Assay
more info
PubMed 
located_in microvillus membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
part_of plasma membrane protein complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in ruffle IEA
Inferred from Electronic Annotation
more info
 
located_in sperm midpiece ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in stereocilium tip IEA
Inferred from Electronic Annotation
more info
 
located_in vesicle HDA PubMed 

General protein information

Preferred Names
Na(+)/H(+) exchange regulatory cofactor NHE-RF1
Names
Na(+)/H(+) exchange regulatory cofactor 1
Na+/H+ exchange regulatory co-factor
SLC9A3 regulator 1
ezrin-radixin-moesin binding phosphoprotein-50
regulatory cofactor of Na(+)/H(+) exchanger
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), 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.

Genomic

  1. NG_013022.1 RefSeqGene

    Range
    5005..25730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_004243.1

    Status: REVIEWED

    Source sequence(s)
    BC053350, CX761192
    Consensus CDS
    CCDS11705.1
    UniProtKB/Swiss-Prot
    B3KY21, O14745, O43552, Q86WQ5
    UniProtKB/TrEMBL
    B2R6A3
    Related
    ENSP00000262613.5, ENST00000262613.10
    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:235358
    EBP50_C; EBP50, C-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    74748628..74769353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    75640506..75661228
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)