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

    Gene ID: 26941, updated on 13-Jan-2025

    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 bile acid secretion; maintenance of epithelial cell apical/basal polarity; and negative regulation of signal transduction. Acts upstream of or within several processes, including G protein-coupled dopamine receptor signaling pathway; auditory receptor cell stereocilium organization; and cerebrospinal fluid circulation. 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 NHERF1 (NHERF family PDZ scaffold protein 1). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Broad expression in large intestine adult (RPKM 268.1), small intestine adult (RPKM 265.0) and 20 other tissues See more
    Orthologs
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    Genomic context

    See Nherf1 in Genome Data Viewer
    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_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_31142 Neighboring gene CD300E molecule Neighboring gene STARR-seq mESC enhancer starr_31143 Neighboring gene STARR-seq mESC enhancer starr_31145 Neighboring gene STARR-positive B cell enhancer mm9_chr11:114966559-114966859 Neighboring gene STARR-positive B cell enhancer mm9_chr11:114967952-114968253 Neighboring gene RAB37, member RAS oncogene family Neighboring gene CD300 molecule like family member F Neighboring gene STARR-positive B cell enhancer ABC_E11499 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:115019296-115019604 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:115024157-115024344 Neighboring gene STARR-positive B cell enhancer ABC_E91 Neighboring gene STARR-positive B cell enhancer mm9_chr11:115048516-115048817 Neighboring gene transmembrane protein 104 Neighboring gene N-acetyltransferase 9 (GCN5-related, putative) Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:115088135-115088322 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:115088428-115088537 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:115092913-115093101 Neighboring gene glutamate receptor, ionotropic, NMDA2C (epsilon 3)

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (2)  1 citation

    Interactions

    General gene information

    Clone Names

    • MGC95776

    Gene Ontology Provided by MGI

    Items 1 - 25 of 36
    Function Evidence Code Pubs
    enables PDZ domain binding  
    enables PDZ domain binding  
    enables beta-2 adrenergic receptor binding  
    enables beta-2 adrenergic receptor binding  
    enables beta-catenin binding  
    enables beta-catenin binding  
    enables channel activator activity  
    enables channel activator activity  
    enables chloride channel regulator activity  
    enables chloride channel regulator activity  
    enables dopamine receptor binding PubMed 
    enables gamma-aminobutyric acid transmembrane transporter activity  
    contributes_to gamma-aminobutyric acid transmembrane transporter activity  
    enables growth factor receptor binding  
    enables growth factor receptor binding  
    enables identical protein binding  
    enables identical protein binding  
    enables molecular adaptor activity  
    enables molecular adaptor activity  
    enables myosin II binding  
    enables myosin II binding  
    enables phosphatase binding PubMed 
    enables phosphatase binding  
    enables protein binding PubMed 
    enables protein domain specific binding  
    enables protein-containing complex binding  
    enables protein-containing complex binding  
    enables protein-membrane adaptor activity  
    enables signaling receptor binding  
    enables signaling receptor binding  
    enables transmembrane transporter binding  
    enables transmembrane transporter binding  
    enables type 2 metabotropic glutamate receptor binding  
    enables type 2 metabotropic glutamate receptor binding  
    enables type 3 metabotropic glutamate receptor binding  
    enables type 3 metabotropic glutamate receptor binding  
    Items 1 - 25 of 36
    Items 1 - 25 of 67
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway  
    acts_upstream_of_or_within actin cytoskeleton organization PubMed 
    acts_upstream_of_or_within adenylate cyclase-activating dopamine receptor signaling pathway PubMed 
    acts_upstream_of_or_within auditory receptor cell stereocilium organization PubMed 
    involved_in bile acid secretion PubMed 
    acts_upstream_of_or_within cerebrospinal fluid circulation PubMed 
    acts_upstream_of_or_within cerebrospinal fluid circulation PubMed 
    involved_in cilium organization PubMed 
    involved_in establishment of Golgi localization  
    involved_in establishment of Golgi localization  
    involved_in establishment of epithelial cell apical/basal polarity  
    involved_in establishment of epithelial cell apical/basal polarity  
    acts_upstream_of establishment of localization in cell PubMed 
    acts_upstream_of_or_within establishment of localization in cell PubMed 
    acts_upstream_of fibroblast migration PubMed 
    involved_in gamma-aminobutyric acid import  
    involved_in gamma-aminobutyric acid import  
    involved_in gland morphogenesis  
    involved_in gland morphogenesis  
    involved_in glutathione transport PubMed 
    involved_in import across plasma membrane  
    involved_in import across plasma membrane  
    acts_upstream_of_or_within intracellular phosphate ion homeostasis PubMed 
    involved_in maintenance of epithelial cell apical/basal polarity PubMed 
    involved_in maintenance of epithelial cell apical/basal polarity  
    involved_in microvillus assembly  
    involved_in microvillus assembly  
    involved_in negative regulation of ERK1 and ERK2 cascade  
    involved_in negative regulation of ERK1 and ERK2 cascade  
    involved_in negative regulation of canonical Wnt signaling pathway  
    involved_in negative regulation of canonical Wnt signaling pathway  
    involved_in negative regulation of cell motility PubMed 
    involved_in negative regulation of cell population proliferation  
    involved_in negative regulation of cell population proliferation  
    acts_upstream_of_or_within negative regulation of fibroblast migration PubMed 
    involved_in negative regulation of mitotic cell cycle  
    involved_in negative regulation of mitotic cell cycle  
    acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    involved_in negative regulation of platelet-derived growth factor receptor signaling pathway PubMed 
    acts_upstream_of_or_within negative regulation of sodium ion transport PubMed 
    acts_upstream_of_or_within negative regulation of sodium:proton antiporter activity PubMed 
    involved_in nuclear migration  
    involved_in nuclear migration  
    acts_upstream_of_or_within phospholipase C-activating dopamine receptor signaling pathway PubMed 
    involved_in plasma membrane organization PubMed 
    involved_in positive regulation of intrinsic apoptotic signaling pathway  
    involved_in positive regulation of intrinsic apoptotic signaling pathway  
    involved_in positive regulation of monoatomic ion transmembrane transport  
    involved_in positive regulation of monoatomic ion transmembrane transport  
    acts_upstream_of_or_within protein localization PubMed 
    involved_in protein localization to plasma membrane  
    involved_in protein localization to plasma membrane  
    involved_in protein localization to plasma membrane  
    involved_in regulation of cell shape  
    involved_in regulation of cell shape  
    involved_in regulation of cell size  
    involved_in regulation of cell size  
    involved_in regulation of protein kinase activity PubMed 
    acts_upstream_of_or_within regulation of renal phosphate excretion PubMed 
    involved_in renal absorption PubMed 
    involved_in renal phosphate ion absorption  
    involved_in renal phosphate ion absorption  
    acts_upstream_of_or_within renal sodium ion transport PubMed 
    acts_upstream_of_or_within sensory perception of sound PubMed 
    acts_upstream_of sodium ion transport PubMed 
    Items 1 - 25 of 67
    Items 1 - 20 of 25
    Component Evidence Code Pubs
    located_in apical part of cell PubMed 
    is_active_in apical plasma membrane  
    located_in apical plasma membrane PubMed 
    located_in apical plasma membrane  
    located_in brush border membrane PubMed 
    located_in cell periphery  
    located_in cytoplasm  
    located_in cytoplasm  
    located_in endomembrane system  
    located_in extracellular region  
    located_in filopodium  
    located_in membrane PubMed 
    located_in membrane  
    located_in microvillus  
    located_in microvillus  
    located_in microvillus membrane  
    located_in microvillus membrane  
    located_in perinuclear region of cytoplasm  
    located_in perinuclear region of cytoplasm  
    part_of plasma membrane protein complex  
    part_of plasma membrane protein complex  
    located_in ruffle  
    located_in sperm midpiece PubMed 
    located_in stereocilium PubMed 
    located_in stereocilium tip PubMed 
    Items 1 - 20 of 25

    General protein information

    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)

    1. NM_012030.2NP_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: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:230355
      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

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      115054138..115072009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      smart00228
      Location:146196
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      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) ...
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