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SLC9A3R1 SLC9A3 regulator 1 [ Homo sapiens (human) ]

Gene ID: 9368, updated on 22-May-2016
Official Symbol
SLC9A3R1provided by HGNC
Official Full Name
SLC9A3 regulator 1provided by HGNC
Primary source
HGNC:HGNC:11075
See related
Ensembl:ENSG00000109062 HPRD:05406; MIM:604990; Vega:OTTHUMG00000178863
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; NHERF1; NHERF-1; NPHLOP2
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]
Orthologs
Location:
17q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (74748612..74769360)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72744751..72765499)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371894 Neighboring gene RAB37, member RAS oncogene family Neighboring gene CD300 molecule like family member f Neighboring gene uncharacterized LOC105371893 Neighboring gene microRNA 3615 Neighboring gene transmembrane protein 104 Neighboring gene N-acetyltransferase 9 (putative)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
MedGen: C2676782 OMIM: 612287 GeneReviews: Not available
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NHGRI 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.
NHGRI GWA Catalog

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
beta-2 adrenergic receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
chloride channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
dopamine receptor binding IEA
Inferred from Electronic Annotation
more info
 
growth factor receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IEA
Inferred from Electronic Annotation
more info
 
protein complex scaffold IEA
Inferred from Electronic Annotation
more info
 
protein self-association IDA
Inferred from Direct Assay
more info
PubMed 
receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
adenylate cyclase-activating dopamine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
auditory receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
bile acid secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
cAMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
cellular phosphate ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
establishment of Golgi localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of epithelial cell apical/basal polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of nucleus localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
gland morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
glutathione transport ISS
Inferred from Sequence or Structural Similarity
more info
 
microvillus assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of catenin import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of phosphatidylinositol 3-kinase signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of platelet-derived growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of sodium:proton antiporter activity IEA
Inferred from Electronic Annotation
more info
 
phospholipase C-activating dopamine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
protein complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell size IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of excretion IEA
Inferred from Electronic Annotation
more info
 
regulation of protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of sodium:proton antiporter activity NAS
Non-traceable Author Statement
more info
PubMed 
renal absorption ISS
Inferred from Sequence or Structural Similarity
more info
 
renal phosphate ion absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
renal sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IEA
Inferred from Electronic Annotation
more info
 
cell periphery IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
filopodium IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
microvillus IDA
Inferred from Direct Assay
more info
PubMed 
microvillus membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
ruffle IEA
Inferred from Electronic Annotation
more info
 
sperm midpiece ISS
Inferred from Sequence or Structural Similarity
more info
 
stereocilium tip IEA
Inferred from Electronic Annotation
more info
 
vesicle IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
Na(+)/H(+) exchange regulatory cofactor NHE-RF1
Names
Na+/H+ exchange regulatory co-factor
ezrin-radixin-moesin binding phosphoprotein-50
ezrin-radixin-moesin-binding phosphoprotein 50
regulatory cofactor of Na(+)/H(+) exchanger
solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1
solute carrier family 9 isoform A3 regulatory factor 1
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1

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
    4989..25737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004252.4NP_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)
    AI203594, BC053350, CX761192
    Consensus CDS
    CCDS11705.1
    UniProtKB/Swiss-Prot
    O14745
    Related
    ENSP00000262613, OTTHUMP00000260210, ENST00000262613, OTTHUMT00000443671
    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:320358
    EBP50_C-term; EBP50, C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    74748612..74769360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    72809571..72830338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)