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Aliases for SLC9A3R1 Gene

Aliases for SLC9A3R1 Gene

  • SLC9A3 Regulator 1 2 3
  • Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 Regulator 1 2 3 5
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory Factor 1 2 3
  • Solute Carrier Family 9 Isoform A3 Regulatory Factor 1 3 4
  • Ezrin-Radixin-Moesin-Binding Phosphoprotein 50 3 4
  • Regulatory Cofactor Of Na(+)/H(+) Exchanger 3 4
  • NHERF-1 3 4
  • NHERF1 3 4
  • EBP50 3 4
  • NHERF 3 4
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 1 2
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 1 2
  • Ezrin-Radixin-Moesin Binding Phosphoprotein-50 3
  • Sodium-Hydrogen Exchanger Regulatory Factor 1 4
  • Na+/H+ Exchange Regulatory Co-Factor 3
  • NPHLOP2 3

External Ids for SLC9A3R1 Gene

Previous GeneCards Identifiers for SLC9A3R1 Gene

  • GC17P072760
  • GC17P075802
  • GC17P073208
  • GC17P073341
  • GC17P070256
  • GC17P068155
  • GC17P072744

Summaries for SLC9A3R1 Gene

Entrez Gene Summary for SLC9A3R1 Gene

  • 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]

GeneCards Summary for SLC9A3R1 Gene

SLC9A3R1 (SLC9A3 Regulator 1) is a Protein Coding gene. Diseases associated with SLC9A3R1 include Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 and Dominant Hypophosphatemia With Nephrolithiasis Or Osteoporosis. Among its related pathways are Regulation of CFTR activity (norm and CF) and Normal wtCFTR traffic / ER-to-Golgi. GO annotations related to this gene include receptor binding and protein complex binding. An important paralog of this gene is PDZK1.

UniProtKB/Swiss-Prot for SLC9A3R1 Gene

  • Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa.

Gene Wiki entry for SLC9A3R1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC9A3R1 Gene

Genomics for SLC9A3R1 Gene

Regulatory Elements for SLC9A3R1 Gene

Enhancers for SLC9A3R1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC9A3R1 on UCSC Golden Path with GeneCards custom track

Promoters for SLC9A3R1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC9A3R1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC9A3R1 Gene

Chromosome:
17
Start:
74,748,612 bp from pter
End:
74,769,360 bp from pter
Size:
20,749 bases
Orientation:
Plus strand

Genomic View for SLC9A3R1 Gene

Genes around SLC9A3R1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9A3R1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9A3R1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9A3R1 Gene

Proteins for SLC9A3R1 Gene

  • Protein details for SLC9A3R1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14745-NHRF1_HUMAN
    Recommended name:
    Na(+)/H(+) exchange regulatory cofactor NHE-RF1
    Protein Accession:
    O14745
    Secondary Accessions:
    • B3KY21
    • O43552
    • Q86WQ5

    Protein attributes for SLC9A3R1 Gene

    Size:
    358 amino acids
    Molecular mass:
    38868 Da
    Quaternary structure:
    • Homodimer, and heterodimer with SLC9A3R2. Binds the N-termini of EZR, RDX and MSN. Binds the C-termini of PDGFRA, PDGFRB, ADRB2, NOS2 and CFTR. Binds ARHGAP17, EPI64, RACK1, OPRK1, GNAQ, CTNNB1 and PLCB3. Binds PDZK1 (By similarity). Interacts with CLCN3. Binds the C-terminus of PAG1. In resting T-cells, part of a PAG1-SLC9A3R1-MSN complex which is disrupted upon TCR activation. Forms a complex with CFTR and SLC4A7. Forms a complex with SLC4A7 and ATP6V1B1. Interacts with TRPC4 (via the PDZ-binding domain). Directly interacts with HTR4 (By similarity). Interacts (via the PDZ 1 domain) with PODXL (via the C-terminal PDZ-binding motif DTHL); interaction is not detected in glomerular epithelium cells. Interacts (via the PDZ 1 domain) with PODXL (via the C-terminal PDZ-binding motif DTHL); the interaction take place early in the secretory pathway and is necessary for its apical membrane sorting (By similarity). Interacts with SLC26A3 (By similarity). Interacts with MCC. Interacts with SLC34A1. Interacts (via the PDZ domains) with SLC26A6 isoform 4 and isoform 5.
    SequenceCaution:
    • Sequence=AAH49220.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SLC9A3R1 Gene

    Alternative splice isoforms for SLC9A3R1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC9A3R1 Gene

Proteomics data for SLC9A3R1 Gene at MOPED

Post-translational modifications for SLC9A3R1 Gene

Other Protein References for SLC9A3R1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SLC9A3R1 (NHERF)

No data available for DME Specific Peptides for SLC9A3R1 Gene

Domains & Families for SLC9A3R1 Gene

Gene Families for SLC9A3R1 Gene

Protein Domains for SLC9A3R1 Gene

Graphical View of Domain Structure for InterPro Entry

O14745

UniProtKB/Swiss-Prot:

NHRF1_HUMAN :
  • Contains 2 PDZ (DHR) domains.
Domain:
  • Contains 2 PDZ (DHR) domains.
genes like me logo Genes that share domains with SLC9A3R1: view

Function for SLC9A3R1 Gene

Molecular function for SLC9A3R1 Gene

GENATLAS Biochemistry:
solute carrier family 9 (sodium/hydrogen exchanger) isoform 3,regulatory factor 1,ezrin-radixin-myosin (ERM) binding phosphoprotein,widely expressed,principally in polarized epithelia,colocolizing with actin ezrin in apical microvilli of epithelial cells and of placental syncytiotrophoblast
UniProtKB/Swiss-Prot Function:
Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa.
UniProtKB/Swiss-Prot Induction:
By estrogen.

Gene Ontology (GO) - Molecular Function for SLC9A3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 9430655
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with SLC9A3R1: view
genes like me logo Genes that share phenotypes with SLC9A3R1: view

Human Phenotype Ontology for SLC9A3R1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC9A3R1 Gene

MGI Knock Outs for SLC9A3R1:

Animal Model Products

CRISPR Products

miRNA for SLC9A3R1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC9A3R1 Gene

Localization for SLC9A3R1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9A3R1 Gene

Cytoplasm. Apical cell membrane. Endomembrane system; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Cell projection, microvillus. Note=Translocates from the cytoplasm to the apical cell membrane in a PODXL-dependent manner. Colocalizes with CFTR at the midpiece of sperm tail (By similarity). Colocalizes with actin in microvilli-rich apical regions of the syncytiotrophoblast. Found in microvilli, ruffling membrane and filopodia of HeLa cells. Present in lipid rafts of T-cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC9A3R1 Gene COMPARTMENTS Subcellular localization image for SLC9A3R1 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
plasma membrane 5
cytosol 3
nucleus 2
endosome 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SLC9A3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 NOT nucleus IDA 17895247
GO:0012505 endomembrane system IEA --
GO:0015629 actin cytoskeleton TAS 9430655
GO:0031526 brush border membrane IEA --
GO:0031528 microvillus membrane ISS --
genes like me logo Genes that share ontologies with SLC9A3R1: view

Pathways & Interactions for SLC9A3R1 Gene

genes like me logo Genes that share pathways with SLC9A3R1: view

Gene Ontology (GO) - Biological Process for SLC9A3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003096 renal sodium ion transport IEA --
GO:0006461 protein complex assembly TAS 9430655
GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway IEA --
GO:0008361 regulation of cell size IMP 24862762
GO:0010642 negative regulation of platelet-derived growth factor receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with SLC9A3R1: view

No data available for SIGNOR curated interactions for SLC9A3R1 Gene

Drugs & Compounds for SLC9A3R1 Gene

(12) Drugs for SLC9A3R1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0

(6) Additional Compounds for SLC9A3R1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC9A3R1: view

Transcripts for SLC9A3R1 Gene

Unigene Clusters for SLC9A3R1 Gene

Solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A3R1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: -
SP2:
SP3: -

Relevant External Links for SLC9A3R1 Gene

GeneLoc Exon Structure for
SLC9A3R1
ECgene alternative splicing isoforms for
SLC9A3R1

Expression for SLC9A3R1 Gene

mRNA expression in normal human tissues for SLC9A3R1 Gene

mRNA differential expression in normal tissues according to GTEx for SLC9A3R1 Gene

This gene is overexpressed in Esophagus - Mucosa (x5.6), Whole Blood (x5.1), Liver (x4.5), and Kidney - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for SLC9A3R1 Gene

This gene is overexpressed in Nasal epithelium (8.0) and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC9A3R1 Gene



SOURCE GeneReport for Unigene cluster for SLC9A3R1 Gene Hs.724482

mRNA Expression by UniProt/SwissProt for SLC9A3R1 Gene

O14745-NHRF1_HUMAN
Tissue specificity: Detected in liver, kidney, pancreas, prostate, spleen, small intestine and placenta, in particular in the syncytiotrophoblast.
genes like me logo Genes that share expression patterns with SLC9A3R1: view

Protein tissue co-expression partners for SLC9A3R1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SLC9A3R1 Gene

Orthologs for SLC9A3R1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC9A3R1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC9A3R1 35
  • 89.05 (n)
  • 86.86 (a)
SLC9A3R1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC9A3R1 35
  • 89.01 (n)
  • 87.64 (a)
SLC9A3R1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc9a3r1 35
  • 86.59 (n)
  • 87.82 (a)
Slc9a3r1 16
Slc9a3r1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC9A3R1 35
  • 99.63 (n)
  • 99.44 (a)
SLC9A3R1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc9a3r1 35
  • 85.92 (n)
  • 87.61 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC9A3R1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A3R1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC9A3R1 35
  • 72.22 (n)
  • 66.67 (a)
SLC9A3R1 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC9A3R1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a3r1 35
  • 61.04 (n)
  • 57.96 (a)
Str.1984 35
zebrafish
(Danio rerio)
Actinopterygii Dr.17541 35
LOC100329719 35
  • 63.04 (n)
  • 58.24 (a)
slc9a3r1 36
  • 48 (a)
OneToMany
SLC9A3R1 (2 of 2) 36
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sip1 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8280 36
  • 44 (a)
OneToMany
Species with no ortholog for SLC9A3R1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC9A3R1 Gene

ENSEMBL:
Gene Tree for SLC9A3R1 (if available)
TreeFam:
Gene Tree for SLC9A3R1 (if available)

Paralogs for SLC9A3R1 Gene

Paralogs for SLC9A3R1 Gene

(6) SIMAP similar genes for SLC9A3R1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SLC9A3R1: view

Variants for SLC9A3R1 Gene

Sequence variations from dbSNP and Humsavar for SLC9A3R1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_034899 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)
rs41282065 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) 74,762,028(+) GCCTC(A/G)GCTCT reference, missense
rs119486097 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) 74,763,436(+) GGGAC(A/G)AGACC reference, missense
VAR_067661 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)
rs7420 -- 74,769,076(-) TCAGG(A/G)TAACA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC9A3R1 Gene

Variant ID Type Subtype PubMed ID
nsv908743 CNV Loss 21882294
nsv523611 CNV Loss 19592680

Variation tolerance for SLC9A3R1 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC9A3R1 Gene

Human Gene Mutation Database (HGMD)
SLC9A3R1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A3R1 Gene

Disorders for SLC9A3R1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC9A3R1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nephrolithiasis/osteoporosis, hypophosphatemic, 2
  • hypophosphatemic nephrolithiasis/osteoporosis 2
dominant hypophosphatemia with nephrolithiasis or osteoporosis
nephrolithiasis
  • calculus of kidney and ureter
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
osteoporosis
  • osteoporosis, postmenopausal, susceptibility
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NHRF1_HUMAN
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269 PubMed:18784102, ECO:0000269 PubMed:22506049}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC9A3R1

Genetic Association Database (GAD)
SLC9A3R1
Human Genome Epidemiology (HuGE) Navigator
SLC9A3R1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC9A3R1
genes like me logo Genes that share disorders with SLC9A3R1: view

No data available for Genatlas for SLC9A3R1 Gene

Publications for SLC9A3R1 Gene

  1. Identification of EBP50: a PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family. (PMID: 9314537) Reczek D. … Bretscher A. (J. Cell Biol. 1997) 2 3 4 23 67
  2. NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins. (PMID: 9430655) Murthy A. … Ramesh V. (J. Biol. Chem. 1998) 2 3 23
  3. EBP50 exerts tumor suppressor activity by promoting cell apoptosis and retarding extracellular signal-regulated kinase activity. (PMID: 20012548) Zheng J.F. … He J. (Amino Acids 2010) 3 23
  4. A conformational switch in the scaffolding protein NHERF1 controls autoinhibition and complex formation. (PMID: 20042604) Bhattacharya S. … Bu Z. (J. Biol. Chem. 2010) 3 23
  5. Regulation of human organic anion transporter 4 by protein kinase C and NHERF-1: altering the endocytosis of the transporter. (PMID: 20140636) Zhang Q. … You G. (Pharm. Res. 2010) 3 23

Products for SLC9A3R1 Gene

Sources for SLC9A3R1 Gene

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