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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC9A3R1 Gene

protein-coding   GIFtS: 65
GCID: GC17P072744

solute carrier family 9, subfamily A (NHE3, cation proton...

(Previous names: solute carrier family 9 (sodium/hydrogen exchanger), isoform...)
 Explore 32 diseases affiliated with
SLC9A3R1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC9A3R1    

Aliases
for SLC9A3R1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3),
Member 3 Regulator 11 2
     NHERF-12 3
EBP501 2 3 5     NPHLOP22 5
NHERF1 2 3     Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 11
NHERF12 3 5     Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 11
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory
Factor 11 2
     Ezrin-Radixin-Moesin Binding Phosphoprotein-502
Ezrin-Radixin-Moesin-Binding Phosphoprotein 502 3     Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF12
Regulatory Cofactor Of Na(+)/H(+) Exchanger2 3     Na+/H+ Exchange Regulatory Co-Factor2
Solute Carrier Family 9 Isoform A3 Regulatory Factor 12 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


Summaries
for SLC9A3R1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SLC9A3R1:
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)

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

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


Genomic Views
for SLC9A3R1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 plasmid: SLC9A3R1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC9A3R1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SLC9A3R1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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 MCC. Interacts with SLC34A1
Subcellular location: 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 (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
Sequence caution: Sequence=AAH49220.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6/10 PDB 3D structures from and Proteopedia for SLC9A3R1 (see all 10):
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

Post-translational modifications:

  • Phosphorylated on serine residues1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14745

    • SLC9A3R1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn Proteins for SLC9A3R1

    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

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


    SLC9A3R1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC9A3R1

    Protein Domains /
    Families
    for SLC9A3R1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC9A3R1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001478 PDZ
     IPR015098 EBP50_C-term
     IPR017300 NaH_exchngr_reg_CF_NHE-RF

    Graphical View of Domain Structure for InterPro Entry O14745

    ProtoNet protein and cluster: O14745

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

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


    Function
    for SLC9A3R1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

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    5 QIAGEN miScript miRNA 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 plasmid: SLC9A3R1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI16456542
    GO:0005515protein binding IPI15523054
    GO:0008013beta-catenin binding IPI17242191
    GO:0017081chloride channel regulator activity IDA12881487
    GO:0019902phosphatase binding IPI16456542


    SLC9A3R1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for SLC9A3R1: Slc9a3r1tm1Ssl Slc9a3r1tm1Geo
         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


    Pathways & Interactions
    for SLC9A3R1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
    		wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)1.00
    		Regulation of CFTR activity (norm and CF)0.38
    2Tyrosine Kinases / Adaptors
    		Tyrosine Kinases / Adaptors1.00
    3Neuroscience
    		Neuroscience1.00
    4CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    		CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)1.00
    5Selected targets of ESR1
    		Selected targets of ESR11.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SLC9A3R1
        Selected targets of ESR1


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC9A3R1

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

    5/85 Interacting proteins for SLC9A3R1 (O147451, 2, 3 ENSP000002626134) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRB2P075502, 3, ENSP000003053724MINT-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
    TBC1D10AQ9BXI62, 3, ENSP000002157904MINT-73249 MINT-73244 MINT-73247 I2D: score=3 STRING: ENSP00000215790
    PTENP604842, 3, ENSP000003610214MINT-2832476 MINT-2832448 MINT-2832508 I2D: score=2 STRING: ENSP00000361021
    EZRP153112, 3, ENSP000003389344MINT-73256 MINT-7211237 I2D: score=4 STRING: ENSP00000338934
    About this table

    Gene Ontology (GO): 5/26 biological process terms (GO ID links to tree view) (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003096renal sodium ion transport IEA--
    GO:0006461protein complex assembly TAS9430655
    GO:0006915apoptotic process IDA--
    GO:0007191adenylate cyclase-activating dopamine receptor signaling pathway IEA--
    GO:0008285negative regulation of cell proliferation IMP--


    SLC9A3R1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC9A3R1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC9A3R1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC9A3R1

    1 HMDB Compound for SLC9A3R1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    10/17 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SLC9A3R1 / NHRF1 

    Transcripts
    for SLC9A3R1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section
    REFSEQ mRNAs for SLC9A3R1 gene: 
    NM_004252.4  

    Unigene Clusters for SLC9A3R1:

    Solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
    Hs.741153  [show with all ESTs], Hs.744126  [show with all ESTs]
    Unigene Representative Sequences: BX648303, AK094467
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000583369 ENST00000262613(uc002jlo.3 uc002jln.1) ENST00000413388
    ENST00000578958 ENST00000581356

    miRNA
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    hsa-miR-96* hsa-miR-149 hsa-miR-24 hsa-miR-551b* hsa-miR-548c-3p
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: AK094467.1 

    21 DOTS entries:

    DT.95173690  DT.100815724  DT.91968291  DT.446850  DT.101984587  DT.100644123  DT.100815725  DT.120912177 
    DT.100815720  DT.95173694  DT.97772533  DT.95173691  DT.100714927  DT.120912075  DT.120912214  DT.91763397 
    DT.91922625  DT.95173714  DT.95255266  DT.100815727  DT.120912028 

    24/399 AceView cDNA sequences (see all 399):

    AI969196 BG059852 BM790969 BQ060908 AI953027 T33965 BM083571 CR620434 
    BM704802 BQ648705 BG744481 BC049220 N44073 BU957050 BF447450 BP347679 
    AA570276 CR620214 BE796344 BG744105 AW151839 AW662508 AU122744 BC053350 

    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

    Expression
    for SLC9A3R1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC9A3R1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCAGTGGCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC9A3R1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    SomiteThoracic Ventrolateral Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)
    Definitive endoderm-like cells (A scalable, suspensi...)

    See SLC9A3R1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC9A3R1

    SOURCE GeneReport for Unigene clusters: Hs.741153 Hs.744126

    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
    for SLC9A3R1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SLC9A3R1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC9A3R11 solute carrier family 9 (sodium/hydrogen exchanger), more 72.32(n)
    67.58(a)    		   422108  NM_001006424.1  NP_001006424.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC9A3R16
    		 --
    		 77(a)
    		 1 ↔ 1
    		 2(115783048-115792175)
    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
    		 6(a)
    		 1 → many
    		 2R(13282101-13292678)
    worm
    (Caenorhabditis elegans)    		 Secernentea mpz-21 Protein MPZ-2 41.28(n)
    35.47(a)    		   177736  NM_001047443.2  NP_001040908.1 


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

    Paralogs
    for SLC9A3R1 gene

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

    SLC9A3R1 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC9A3R1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/374 NCBI SNPs in SLC9A3R1 are shown (see all 374)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1194860971,2
    		C,F,pathogenic73644496(+) GGGACG/AAGACC 2 /K /E mis12Minor allele frequency- A:0.00NA EU 4945
    rs412820651,2
    		C,F,pathogenic73645905(+) GCCTCG/AGCTCT 2 /Q /R mis14Minor allele frequency- A:0.00NA EU 5877
    rs359109691,2
    		C,F,pathogenic73658756(+) AGGAGC/GTGCTG 2 L V mis13Minor allele frequency- G:0.03NA 62
    rs118713551,2
    		C,F,H,--68153299(+) TTTAAC/TTTCTC 1 -- us2k111Minor allele frequency- T:0.01NS EA NA WA 2610
    rs1116403241,2
    		C,--68154064(+) TTGGAG/AAAAAA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs739958411,2
    		C,--68154408(+) CTGACC/GGGCCC 1 -- us2k12Minor allele frequency- G:0.11WA 120
    rs115491271,2
    		C,F,H--68155637(+) GACCCC/AGAGAC 2 /P syn1 ese37Minor allele frequency- A:0.01NS NA 1104
    rs80674261,2
    		C,F,H--68155790(+) AGCCAC/TCCGGA 2 H syn1 ese33Minor allele frequency- T:0.01NS NA 230
    rs733613701,2
    		C,--68156500(+) TTCTCA/CGGAAT 1 -- int12Minor allele frequency- C:0.11WA 120
    rs2016442291,2
    		C--68157234(+) ACATTC/TTTTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for SLC9A3R1 (72744763 - 72765499 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC9A3R1: --
    Human Gene Mutation Database (HGMD): SLC9A3R1

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    Disorders / Diseases
    for SLC9A3R1 gene

    (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.)
    About This Section
    SLC9A3R1 for disorders           About GeneDecksing

    OMIM gene information: 604990   
    OMIM disorders: 612287  
    UniProtKB/Swiss-Prot: NHRF1_HUMAN, O14745
  • Defects in SLC9A3R1 are the cause of hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2)
    • [MIM:612287]. Hypophosphatemia results from idiopathic renal phosphate loss. It contributes to the pathogenesis of
    hypophosphatemic urolithiasis (formation of urinary calculi) as well to that of hypophosphatemic osteoporosis (bone
    demineralization)

    20/32 diseases for SLC9A3R1 (see all 32):    About MalaCards
    cystic fibrosis    nephrolithiasis/osteoporosis, hypophosphatemic, 2    nephrolithiasis    breast cancer
    osteoporosis    fibrosis    breast cancer susceptibility    psoriatic arthritis
    urolithiasis    neurofibromatosis    hypophosphatemia    familial breast cancer
    renal cell carcinoma    epididymitis    breast carcinoma    crohn's disease
    diarrhea    prostate adenocarcinoma    hepatocellular carcinoma    arthritis

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

    5 Novoseek 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

    Publications
    for SLC9A3R1 gene

    (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)
    About This Section

    PubMed articles for SLC9A3R1 gene, integrated from 9 sources (see all 260):
    (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. (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. (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. (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. (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. (2001)
    6. NHERF1 mutations and responsiveness of renal parathyroid hormone. (PubMed id 18784102)1, 2, 9 Karim Z.... Prie D. (2008)
    7. Structural basis for NHERF recognition by ERM proteins. (PubMed id 16615918)1, 2, 9 Terawaki S.... Hakoshima T. (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. (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. (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. (1997)

    External Searches for SLC9A3R1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SLC9A3R1 gene

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

    Other Databases showing SLC9A3R1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC9A3R1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC9A3R1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC9A3R1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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