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SLC9A3R1 Gene

protein-coding   GIFtS: 63
GCID: GC17P072744

Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton...

(Previous names: solute carrier family 9 (sodium/hydrogen exchanger), isoform...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter
3), Member 3 Regulator 11 2
     NHERF-12 3
EBP502 3 5     NPHLOP22 5
NHERF12 3 5     Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 11
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory
Factor 11 2
     Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 11
Ezrin-Radixin-Moesin-Binding Phosphoprotein 502 3     Ezrin-Radixin-Moesin Binding Phosphoprotein-502
Regulatory Cofactor Of Na(+)/H(+) Exchanger2 3     Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF12
Solute Carrier Family 9 Isoform A3 Regulatory Factor 12 3     Na+/H+ Exchange Regulatory Co-Factor2
NHERF2 3     Sodium-Hydrogen Exchanger Regulatory Factor 13

External Ids:    HGNC: 110751   Entrez Gene: 93682   Ensembl: ENSG000001090627   OMIM: 6049905   UniProtKB: O147453   

Export aliases for SLC9A3R1 gene to outside databases

Previous GC identifers: GC17P072760 GC17P075802 GC17P073208 GC17P073341 GC17P070256 GC17P068155


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1) is a protein-coding gene. Diseases associated with SLC9A3R1 include nephrolithiasis/osteoporosis, hypophosphatemic, 2, and nephrolithiasis. GO annotations related to this gene include beta-catenin binding and receptor binding. An important paralog of this gene is SLC9A3R2.

UniProtKB/Swiss-Prot: NHRF1_HUMAN, O14745
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

Gene Wiki entry for SLC9A3R1 (Sodium-hydrogen antiporter 3 regulator 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the SLC9A3R1 gene promoter:
         GATA-3   Nkx2-5   Tal-1beta   E47   HNF-4alpha1   CBF-A   POU2F1   CBF-B   POU2F1a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC9A3R1 promoter sequence
   Search Chromatin IP Primers for SLC9A3R1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC9A3R1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

SLC9A3R1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC9A3R1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P072744:  view genomic region     (about GC identifiers)

Start:
72,744,763 bp from pter      End:
72,765,499 bp from pter
Size:
20,737 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NHRF1_HUMAN, O14745 (See protein sequence)
Recommended Name: Na(+)/H(+) exchange regulatory cofactor NHE-RF1  
Size: 358 amino acids; 38868 Da
Subunit: 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, GNB2L1, 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
Sequence caution: Sequence=AAH49220.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Selected PDB 3D structures from and Proteopedia for SLC9A3R1 (see all 17):
1G9O (3D)        1GQ4 (3D)        1GQ5 (3D)        1I92 (3D)        1SGH (3D)        2D10 (3D)    
Secondary accessions: O43552 Q86WQ5

Explore the universe of human proteins at neXtProt for SLC9A3R1: NX_O14745

Explore proteomics data for SLC9A3R1 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine residues1
  • Ubiquitination2 at Lys351
  • Modification sites at PhosphoSitePlus

  • See SLC9A3R1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004243.1  
    ENSEMBL proteins: 
     ENSP00000464321   ENSP00000262613   ENSP00000464982   ENSP00000464117  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR015098 EBP50_C-term
     IPR001478 PDZ
     IPR017300 NaH_exchngr_reg_CF_NHE-RF

    Graphical View of Domain Structure for InterPro Entry O14745

    ProtoNet protein and cluster: O14745

    1 Blocks protein domain: IPB001478 PDZ/DHR/GLGF domain

    UniProtKB/Swiss-Prot: NHRF1_HUMAN, O14745
    Similarity: Contains 2 PDZ (DHR) domains


    SLC9A3R1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NHRF1_HUMAN, O14745
    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
    Induction: By estrogen

         Genatlas biochemistry entry for SLC9A3R1:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI16456542
    GO:0005515protein binding IPI11285285
    GO:0008013beta-catenin binding IPI17242191
    GO:0017081chloride channel regulator activity IDA12881487
    GO:0019902phosphatase binding IPI16456542
         
    SLC9A3R1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC9A3R1:
     Decreased influenza A/WSN/33 r 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc9a3r1):
     behavior/neurological  digestive/alimentary  homeostasis/metabolism  mortality/aging  nervous system 
     renal/urinary system  reproductive system  skeleton 

    SLC9A3R1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SLC9A3R1: Slc9a3r1tm1Ssl Slc9a3r1tm1Geo

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    5 qRT-PCR Assays for microRNAs that regulate SLC9A3R1:
    hsa-miR-96* hsa-miR-149 hsa-miR-24 hsa-miR-551b* hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidSLC9A3R1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NHRF1_HUMAN, O14745: Cytoplasm (By similarity). Apical cell membrane (By similarity). 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    plasma membrane4
    cytosol2
    nucleus2
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IEA--
    GO:0005634NOT nucleus IDA17895247
    GO:0005737cytoplasm IDA17895247
    GO:0005813centrosome IDA--
    GO:0005886plasma membrane IDA--

    SLC9A3R1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC9A3R1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38
    wtCFTR and deltaF508 traffic Membrane expression norm and CF 0.38
    2Clathrin dependent protein traffic
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    3ADP signalling through P2Y purinoceptor 12
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.34
    4Tyrosine Kinases / Adaptors
    Tyrosine Kinases / Adaptors
    5Thromboxane A2 receptor signaling
    Thromboxane A2 receptor signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for SLC9A3R1
        Neuroscience
    Tyrosine Kinases / Adaptors

    4 GeneGo (Thomson Reuters) Pathways for SLC9A3R1
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    Regulation of CFTR activity (norm and CF)
    wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

    2 BioSystems Pathways for SLC9A3R1
        PDGFR-beta signaling pathway
    Thromboxane A2 receptor signaling

    1 PharmGKB Pathway for SLC9A3R1
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics


    SLC9A3R1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC9A3R1
    Interactions:

        GeneGlobe Interaction Network for SLC9A3R1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SLC9A3R1 (O147451, 2, 3 ENSP000002626134) via UniProtKB, MINT, STRING, and/or I2D (see all 92)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRB2P075501, 2, 3, ENSP000003053724EBI-349787,EBI-491169 MINT-1796489 MINT-2842955 MINT-1796525 MINT-2843018 MINT-2842994 MINT-1796656 MINT-2842879 MINT-2842917 I2D: score=6 STRING: ENSP00000305372
    CFTRP135691, 2, 3, ENSP000000030844EBI-349787,EBI-349854 MINT-1796707 MINT-1796681 MINT-1783564 I2D: score=7 STRING: ENSP00000003084
    PTENP604841, 2, 3, ENSP000003610214EBI-349787,EBI-696162 MINT-2832476 MINT-2832448 MINT-2832508 I2D: score=2 STRING: ENSP00000361021
    PDGFRBP096191, 2, 3, ENSP000002617994EBI-349787,EBI-641237 MINT-2832623 MINT-2833042 I2D: score=4 STRING: ENSP00000261799
    TBC1D10AQ9BXI62, 3, ENSP000002157904MINT-73249 MINT-73244 MINT-73247 I2D: score=3 STRING: ENSP00000215790
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003096renal sodium ion transport IEA--
    GO:0006461protein complex assembly TAS9430655
    GO:0007191adenylate cyclase-activating dopamine receptor signaling pathway IEA--
    GO:0008285negative regulation of cell proliferation IMP--
    GO:0010642negative regulation of platelet-derived growth factor receptor signaling pathway ISS--

    SLC9A3R1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC9A3R1 (NHRF1)

    1 HMDB Compound for SLC9A3R1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    Selected Novoseek inferred chemical compound relationships for SLC9A3R1 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 46.3 14 10852925 (4), 19889841 (3), 11304524 (1), 11707463 (1) (see all 8)
    sodium 19.1 6 17526947 (1), 18216150 (1), 18942765 (1), 10966919 (1)
    leucine 19.1 5 10852925 (2), 11046132 (1), 9560162 (1), 11352585 (1)
    cytochalasin d 19 1 15037630 (1)
    estrogen 17.6 34 11141479 (6), 10385389 (4), 12145337 (3), 19234136 (2) (see all 6)
    calcium 8.45 5 17599914 (2), 11607833 (1), 19088451 (1), 15037630 (1)
    forskolin 0 1 12881509 (1)
    cgmp 0 2 15905209 (1), 15722341 (1)
    nitric oxide 0 1 12080081 (1)
    lipid 0 1 16335998 (1)



    SLC9A3R1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC9A3R1 gene: 
    NM_004252.4  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000583369 ENST00000262613(uc002jlo.3 uc002jln.1) ENST00000413388
    ENST00000578958 ENST00000581356
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    Selected AceView cDNA sequences (see all 399):

    BQ063202 AI969196 BM835498 BI907430 BM825853 BQ278595 BM549636 CR620434 
    BE880875 AK128474 AU122744 AA593621 AW152514 AA570276 CR609447 CR592944 
    BQ648705 BC049220 BP340436 AW151839 BQ923186 BI090537 BG823457 BU956685 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A3R1    About this scheme

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


    ECgene alternative splicing isoforms for SLC9A3R1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC9A3R1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGTGGCCT
    SLC9A3R1 Expression
    About this image


    SLC9A3R1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Bone Marrow
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Cartilage (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
     
     Somite (Muscoskeletal System)
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    SLC9A3R1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC9A3R1 Protein Expression

    UniProtKB/Swiss-Prot: NHRF1_HUMAN, O14745
    Tissue specificity: Detected in liver, kidney, pancreas, prostate, spleen, small intestine and placenta, in
    particular in the syncytiotrophoblast

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC9A3R1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc9a3r11 , 5 solute carrier family 9 (sodium/hydrogen exchanger), more1, 5 86.59(n)1
    87.82(a)1
      11 (80.65 cM)5
    269411  NM_012030.21  NP_036160.11 
     1151633415 
    chicken
    (Gallus gallus)
    Aves SLC9A3R11 solute carrier family 9, subfamily A (NHE3, cation more 72.22(n)
    66.67(a)
      422108  NM_001006424.1  NP_001006424.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC9A3R16
    solute carrier family 9, subfamily A (NHE3, cation...
    78(a)
    1 ↔ 1
    2(115783039-115792175)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.19842 Transcribed sequence with weak similarity to protein more 75.86(n)    BX711826.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.175412 Danio rerio mRNA similar to solute carrier family 9 more 74.68(n)    BC045377.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sip16
    SRY interacting protein 1
    29(a)
    1 → many
    2R(13282101-13292678)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC9A3R1 gene
    SLC9A3R22  PDZK12  PDZD32  
    6 SIMAP similar genes for SLC9A3R1 using alignment to 4 protein entries:     NHRF1_HUMAN (see all proteins):
    SLC9A3R2    ARHGAP23    PDZD3    PDLIM7    PDZK1P1    PDZK1P2

    SLC9A3R1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC9A3R1 (see all 489)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1396221891,2,,4
    CNephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)4 --73828926(+) CGTGGA/CGAAGG 2 E A mis10--------
    rs359109691,2,,4
    C,FNephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)4 pathogenic173829051(+) AGGAGC/GTGCTG 2 L V mis13Minor allele frequency- G:0.03NA 62
    rs412820651,2,,4
    C,FNephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)4 pathogenic173841906(+) GCCTCG/AGCTCT 2 /Q /R mis14Minor allele frequency- A:0.00NA EU 5877
    rs1194860971,2,,4
    C,FNephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)4 pathogenic173843314(+) GGGACG/AAGACC 2 /K /E mis12Minor allele frequency- A:0.00NA EU 4945
    rs677712581,2
    C,F--68173825(+) GGCCC-/CTGCTAC 1 -- int13Minor allele frequency- CT:0.33NA CSA 6
    rs563900291,2
    C--72756677(+) GCCTCC/-TGGGG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs718219461,2
    C--72758699(+) TTAGT-/T/TT  
            
    TTTTT
    1 -- int11CSA 2
    rs595469861,2
    C--72758712(+) TTTTT-/T/T   
       T
    /TTA
    AAATG
    2 -- int1 cds11NA 2
    rs1116299101,2
    C,F--72761823(+) GTAGCC/TGGGAT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs665370521,2
    C--72763644(-) GTGGC-/CTGA  
            
    CTGAG
    1 -- int12Minor allele frequency- CTGA:0.25NA 4

    HapMap Linkage Disequilibrium report for SLC9A3R1 (72744763 - 72765499 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC9A3R1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv523611CNV Loss19592680
    nsv908743CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC9A3R1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC9A3R1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC9A3R1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604990   
    OMIM disorders: 612287  
    UniProtKB/Swiss-Prot: NHRF1_HUMAN, O14745
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]: A disease characterized by
    decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia,
    hypercalciuria, nephrolithiasis and osteoporosis. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for SLC9A3R1 (see all 36):    
    About MalaCards
    nephrolithiasis/osteoporosis, hypophosphatemic, 2    nephrolithiasis    hypophosphatemic nephrolithiasis/osteoporosis, 1    cystic fibrosis
    osteoporosis    hypophosphatemia    neurofibromatosis    familial breast cancer
    psoriatic arthritis    breast cancer    epididymitis    diarrhea
    prostate adenocarcinoma    psoriasis    crohn's disease    type 1 diabetes
    cholangiocarcinoma    schizophrenia    renal cell carcinoma    hypertension

    1 disease from the University of Copenhagen DISEASES database for SLC9A3R1:
    Cystic fibrosis

    SLC9A3R1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for SLC9A3R1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystic fibrosis 67.8 27 10562288 (2), 18055461 (2), 19234136 (2), 9613608 (1) (see all 19)
    neurofibromatosis type 2 60.4 1 9430655 (1)
    breast carcinoma 11.5 10 17593079 (4), 11141479 (4), 15467753 (1)
    breast cancer 7.74 40 17078868 (4), 18430260 (3), 20012548 (3), 15467753 (2) (see all 7)
    tumors 0 16 15467753 (3), 9430655 (1), 18430260 (1), 19308292 (1) (see all 9)

    Genetic Association Database (GAD): SLC9A3R1
    Human Genome Epidemiology (HuGE) Navigator: SLC9A3R1 (2 documents)

    Export disorders for SLC9A3R1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC9A3R1 gene, integrated from 10 sources (see all 278):
    (articles sorted by number of sources associating them with SLC9A3R1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of EBP50: a PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family. (PubMed id 9314537)1, 2, 3, 9 Reczek D.... Bretscher A. (J. Cell Biol. 1997)
    2. NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins. (PubMed id 9430655)1, 2, 3, 9 Murthy A.... Ramesh V. (J. Biol. Chem. 1998)
    3. Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50). (PubMed id 12193606)1, 2, 9 Rochdi M.D....Parent J.-L. (J. Biol. Chem. 2002)
    4. EBP50, a beta-catenin-associating protein, enhances Wnt signaling and is over-expressed in hepatocellular carcinoma. (PubMed id 12830000)1, 2, 9 Shibata T.... Hirohashi S. (Hepatology 2003)
    5. Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP. (PubMed id 11285285)1, 2, 9 Reczek D. and Bretscher A. (J. Cell Biol. 2001)
    6. NHERF1 mutations and responsiveness of renal parathyroid hormone. (PubMed id 18784102)1, 2, 9 Karim Z.... Prie D. (N. Engl. J. Med. 2008)
    7. Structural basis for NHERF recognition by ERM proteins. (PubMed id 16615918)1, 2, 9 Terawaki S.... Hakoshima T. (Structure 2006)
    8. Estrogen receptor inducibility of the human Na+/H+ exchanger regulatory factor/ezrin-radixin-moesin binding protein 50 (NHE- RF/EBP50) gene involving multiple half-estrogen response elements. (PubMed id 12145337)1, 2, 9 Ediger T.R.... Katzenellenbogen B.S. (Mol. Endocrinol. 2002)
    9. A kinase-regulated PDZ-domain interaction controls endocytic sorting of the beta2-adrenergic receptor. (PubMed id 10499588)1, 2, 9 Cao T.T.... von Zastrow M. (Nature 1999)
    10. cAMP-mediated inhibition of the epithelial brush border Na+/H+ exchanger, NHE3, requires an associated regulatory protein. (PubMed id 9096337)1, 2, 9 Yun C.H.C.... Donowitz M. (Proc. Natl. Acad. Sci. U.S.A. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9368 HGNC: 11075 AceView: SLC9A3R1 Ensembl:ENSG00000109062 euGenes: HUgn9368
    ECgene: SLC9A3R1 H-InvDB: SLC9A3R1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC9A3R1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC9A3R1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC9A3R1 gene:
    Search GeneIP for patents involving SLC9A3R1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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