U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 9368, updated on 27-Nov-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NHERF1 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74748628..74769353)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75640506..75661228)
    RS_2024_09 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 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
    not available

    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_2024_08

    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)