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

SLC9A1 Gene

protein-coding   GIFtS: 69
GCID: GC01M027425

Solute Carrier Family 9, Subfamily A (NHE1, Cation Proton...

(Previous names: solute carrier family 9 (sodium/hydrogen exchanger), isoform...)
(Previous symbols: APNH, NHE1)
Microbiology & Infectious Diseases Congress
  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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Solute Carrier Family 9, Subfamily A (NHE1, Cation Proton Antiporter
1), Member 11 2
     Na-Li Countertransporter2
APNH1 2 3 5     Sodium/Hydrogen Exchanger 12
NHE11 2 3 5     Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 1 (Antiporter,
Na+/H+, Amiloride Sensitive)2
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 1
(Antiporter, Na+/H+, Amiloride Sensitive)1 2
     APNH13
NHE-12 3     Na(+)/H(+) Antiporter, Amiloride-Sensitive3
Na(+)/H(+) Exchanger 12 3     Solute Carrier Family 9 Member 13
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 11     

External Ids:    HGNC: 110711   Entrez Gene: 65482   Ensembl: ENSG000000900207   OMIM: 1073105   UniProtKB: P196343   
ORGUL members:         
NONCODE14:n337799      

Export aliases for SLC9A1 gene to outside databases

Previous GC identifers: GC01P028110 GC01M026457 GC01M026658 GC01M027029 GC01M027109 GC01M027297 GC01M025679


(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 SLC9A1 Gene:
This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a
plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in
regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth.
(provided by RefSeq, Sep 2011)

GeneCards Summary for SLC9A1 Gene: 
SLC9A1 (solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SLC9A1 include myocardial stunning, and metabolic acidosis, and among its related super-pathways are Regulation of actin cytoskeleton and Metabolism of carbohydrates. GO annotations related to this gene include sodium:hydrogen antiporter activity and calmodulin binding. An important paralog of this gene is SLC9A8.

UniProtKB/Swiss-Prot: SL9A1_HUMAN, P19634
Function: Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse
environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays
an important role in signal transduction

Gene Wiki entry for SLC9A1 (Sodiumâ€"hydrogen antiporter 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC9A1 gene promoter:
         GR   STAT1   AP-2alpha isoform 3   p53   AP-1   AP-2alpha isoform 2   STAT3   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC9A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC9A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC9A1


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

Entrez Gene cytogenetic band: 1p36.1-p35   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.1-p35

SLC9A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC9A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M027425:  view genomic region     (about GC identifiers)

Start:
27,425,300 bp from pter      End:
27,493,472 bp from pter
Size:
68,173 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SL9A1_HUMAN, P19634 (See protein sequence)
Recommended Name: Sodium/hydrogen exchanger 1  
Size: 815 amino acids; 90763 Da
Subunit: Oligomer (By similarity). Interacts with calmodulin and TESC. Interacts (via the juxtamembrane region of
the cytoplasmic C-terminus domain) with CHP1; the interaction occurs at the plasma membrane in a
calcium-dependent manner. Interacts with CHP2; the interaction occurs in a calcium-dependent manner
Subcellular location: Membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane
protein (By similarity). Cell membrane; Multi-pass membrane protein. Note=Colocalizes with CHP1 at the reticulum
endoplasmic (By similarity). Colocalizes with CHP1 and CHP2 at the plasma membrane
Miscellaneous: Inhibited by amiloride and 5-amino-substituted derivatives and activated in a cooperative fashion
by intracellular H(+). In quiescent cells upon growth factor stimulation, the apparent affinity for internal H(+)
is increased, resulting in a persistent rise in cytoplasmic pH
Caution: The region between transmembrane regions M4 and M5 and between M6 and M7 (also termed intracellular loops
IL2 and IL4, respectively) seem to be localized at least in part in the membrane. The hydrophobic region H10 is
proposed to be located within the membrane
Caution: Although PubMed:12809501 report that TESC-binding results in a decrease in activity, studies with rat
SLC9A1 show that TESC-binding results in the maturation and accumulation of SLC9A1 at the cell surface
Caution: Although PubMed:12809501 report that CHP1 and TESC bind to SLC9A1 at different sites, studies with rat
SLC9A1 show that they bind at the same C-terminal site
6/7 PDB 3D structures from and Proteopedia for SLC9A1 (see all 7):
1Y4E (3D)        2BEC (3D)        2E30 (3D)        2HTG (3D)        2KBV (3D)        2L0E (3D)    
Secondary accessions: B1ALD6 D3DPL4 Q96EM2
Alternative splicing: 2 isoforms:  P19634-1   P19634-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC9A1: NX_P19634

Explore proteomics data for SLC9A1 at MOPED 

Post-translational modifications:

  • UniProtKB: O-glycosylated
  • UniProtKB: Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is reduced by CHP1 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P19634

  • SLC9A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC9A1 Protein Expression
    REFSEQ proteins: NP_003038.2  
    ENSEMBL proteins: 
     ENSP00000263980   ENSP00000363199   ENSP00000363197   ENSP00000445520  
    Reactome Protein details: P19634
    Human Recombinant Protein Products for SLC9A1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum ISS--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005886plasma membrane TAS--

    SLC9A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Sodium/hydrogen exchanger 1 
    SLC9 family of sodium/hydrogen exchangers

    4 InterPro protein domains:
     IPR001970 Na/H_exchanger_1
     IPR018422 Cation/H_exchanger_CPA1
     IPR004709 NaH_exchanger
     IPR006153 Cation/H_exchanger

    Graphical View of Domain Structure for InterPro Entry P19634

    ProtoNet protein and cluster: P19634

    3 Blocks protein domains:
    IPB001970 Na+/H+ exchanger isoform 1 (NHE1) signature
    IPB004709 Na+/H+ exchanger signature
    IPB006153 Sodium/hydrogen exchanger


    UniProtKB/Swiss-Prot: SL9A1_HUMAN, P19634
    Similarity: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family


    SLC9A1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SL9A1_HUMAN, P19634
    Function: Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse
    environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays
    an important role in signal transduction
    Biophysicochemical properties: pH dependence: Fully active at acidic pHs, the antiporter is virtually turned off
    at neutral pH;

         Genatlas biochemistry entry for SLC9A1:
    solute carrier protein family 9 (sodium/hydrogen exchange),member 1,involved in intracellular pH regulation and
    cell volume,isoform 1,basolateral membrane location in polarized cells (amiloride sensitive),ubiquitous,homolog
    to mouse Npe1,mutated in slow-wawe epilepsy

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11350981
    GO:0005516calmodulin binding IEA--
    GO:0015299solute:hydrogen antiporter activity TAS2536298
    GO:0015385sodium:hydrogen antiporter activity ISS--
    GO:0048306calcium-dependent protein binding IDA15035633
         
    SLC9A1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc9a1):
     behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  integument  mortality/aging  nervous system  reproductive system 

    SLC9A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc9a1tm1Smb for SLC9A1

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    SwitchGear 3'UTR luciferase reporter plasmidSLC9A1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC9A1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC9A1 About   (see all 27)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    2MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    3Hyaluronan uptake and degradation
    Hyaluronan uptake and degradation0.71
    Hyaluronan metabolism0.71
    4SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    5Gastric acid secretion
    Gastric acid secretion0.34
    Salivary secretion0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SLC9A1
        Selected targets of ESR1

    5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SLC9A1 (see all 6)
        RhoA Pathway
    G12-G13 in Cellular Signaling
    Intracellular Calcium Signaling
    Aldosterone Signaling in Epithelial Cells
    PDGF Pathway

    5/7 BioSystems Pathways for SLC9A1 (see all 7)
        G Protein Signaling Pathways
    Regulation of Actin Cytoskeleton
    Signaling mediated by p38-alpha and p38-beta
    ErbB1 downstream signaling
    Endothelins


    5/22        Reactome Pathways for SLC9A1 (see all 22)
        Hyaluronan metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Transmembrane transport of small molecules

    1 PharmGKB Pathway for SLC9A1
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics

    5/7         Kegg Pathways  (Kegg details for SLC9A1) (see all 7):
        Cardiac muscle contraction
    Regulation of actin cytoskeleton
    Salivary secretion
    Gastric acid secretion
    Pancreatic secretion


    SLC9A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC9A1

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

    5/42 Interacting proteins for SLC9A1 (P196342, 3 ENSP000002639804) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    CHP2O437452, 3, ENSP000003001134MINT-2729935 I2D: score=3 STRING: ENSP00000300113
    YWHABP319462, 3, ENSP000003001614MINT-8007529 I2D: score=2 STRING: ENSP00000300161
    About this table

    Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001101response to acid IDA--
    GO:0002026regulation of the force of heart contraction IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006811ion transport TAS--
    GO:0006812cation transport ----

    SLC9A1 for ontologies           About GeneDecksing



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

    SLC9A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for SLC9A1

    Compounds for SLC9A1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PhlorizinNa+-glucose cotransporter inhibitor[60-81-1]
    N2-Methyl-L-arginineLysosomal system c L-arginine uptake inhibitor[2480-28-6]
    VU 0240551KCC2 inhibitor[893990-34-6]
    AR-C155858MCT1 and MCT2 inhibitor[496791-37-8]
    UK 5099Inhibitor of pyruvate transport[56396-35-1]

    1 HMDB Compound for SLC9A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    2 DrugBank Compounds for SLC9A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmilorideAmilorida [INN-Spanish] (see all 6)2016-88-8targetinhibitor11604219 10841524 12881227 12872009 11688549
    Homoserine Lactone-- 1192-20-7target--17139284 17016423

    10/59 Novoseek inferred chemical compound relationships for SLC9A1 gene (see all 59)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cariporide 93.2 46 16720033 (3), 15621036 (2), 10591025 (2), 18776042 (2) (see all 28)
    hoe 694 92.4 9 14690446 (3), 15966699 (1), 7603840 (1), 10481210 (1) (see all 7)
    eipa 89.5 39 11017880 (3), 12202953 (2), 7653521 (2), 14690446 (2) (see all 17)
    hoe-642 84 17 11680172 (2), 11796741 (2), 17916606 (1), 11507161 (1) (see all 7)
    bcecf 81.7 5 17982257 (1), 7726835 (1), 8201013 (1)
    amiloride 81.3 50 17493937 (5), 7653521 (5), 15010500 (2), 8246907 (2) (see all 29)
    dimethyl amiloride 69.8 5 9425602 (1), 16800927 (1)
    chp1 65.8 19 15035633 (6), 17050540 (5)
    sodium 56.9 35 14561010 (3), 10028059 (2), 15232215 (1), 15808834 (1) (see all 23)
    bicarbonate 47.8 6 11682397 (2), 16475831 (1), 12782397 (1), 17347411 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC9A1 / SL9A1

    (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,
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    About This Section

    REFSEQ mRNAs for SLC9A1 gene: 
    NM_003047.4  

    Unigene Clusters for SLC9A1:

    Solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
    Hs.91389  [show with all ESTs], Hs.469116  [show with all ESTs]
    Unigene Representative Sequences: NM_001257291, NM_003047
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374089(uc001bnl.3) ENST00000263980(uc001bnm.3 uc010ofk.2)
    ENST00000490329 ENST00000447808 ENST00000374086(uc001bnn.2) ENST00000374084
    ENST00000545949
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF141350.1 AF141351.1 AF141352.1 AF141353.1 AF141354.1 AF141355.1 AF141356.1 AF141357.1 
    AF141358.1 AF141359.1 AF146430.1 AF146431.1 AF146432.1 AF146433.1 AF146434.1 AF146435.1 
    AF146436.1 AF146437.1 AF146438.1 AF146439.1 AK124218.1 AK300432.1 AK314190.1 BC012121.1 
    M81768.1 M96066.1 M96067.1 NR_046474.1 S68616.1 

    15 DOTS entries:

    DT.415273  DT.100020524  DT.216054  DT.119442  DT.91833324  DT.97835328  DT.101975789  DT.106332 
    DT.40196880  DT.86855354  DT.95083746  DT.95335259  DT.97767724  DT.97843152  DT.91911205 

    24/196 AceView cDNA sequences (see all 196):

    R69124 BQ279234 AF146435 AF141351 BF770994 BI753195 BU631070 AA610190 
    BM562585 BM710558 AF146432 BU734387 BM702953 BF445308 BU729433 AF141352 
    AF146438 AU141670 BQ003220 AF141354 AI359056 R31892 CA446690 BQ448012 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A1 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a ·
    SP1:                                -     -     -                                               -     -           -                                             
    SP2:                                                                                                              -                                             
    SP3:                                                                                                                                                            
    SP4:                                -     -     -                                                                                                               
    SP5:        -     -     -           -     -     -                                                                                                               

    ExUns: 16b ^ 17a · 17b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for SLC9A1

    (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

    SLC9A1 expression in normal human tissues (normalized intensities)      SLC9A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAGGGTGAC
    SLC9A1 Expression
    About this image


    SLC9A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 3 entries
             salivary gland ; glandular cells   
             salivary gland   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             brain/midbrain   
     
     Stomach (Gastrointestinal Tract)    fully expand to see all 2 entries
             stomach, upper ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             sensory organ/ear/inner ear   

    See SLC9A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC9A1

    SOURCE GeneReport for Unigene clusters: Hs.91389 Hs.469116

    UniProtKB/Swiss-Prot: SL9A1_HUMAN, P19634
    Tissue specificity: Kidney and intestine

        SABiosciences Custom PCR Arrays for SLC9A1
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC9A1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc9a11 , 5 solute carrier family 9 (sodium/hydrogen exchanger), more1, 5 89.79(n)1
    93.85(a)1
      4 (66.25 cM)5
    205441  NM_016981.21  NP_058677.11 
     1333697065 
    chicken
    (Gallus gallus)
    Aves SLC9A11 solute carrier family 9 (sodium/hydrogen exchanger), more 80.55(n)
    83.55(a)
      419580  NM_001044643.1  NP_001038108.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC9A16
    Sodium/hydrogen exchanger
    70(a)
    1 ↔ 1
    GL343488.1(413941-441419)
    African clawed frog
    (Xenopus laevis)
    Amphibia NHE2 Na+/H+ antiporter 76.16(n)    Y08635.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc9a11 solute carrier family 9 (sodium/hydrogen exchanger), more 71.4(n)
    69.17(a)
      795135  NM_001113480.1  NP_001106952.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nhe26
    Na[+]/H[+] hydrogen exchanger 2
    22(a)
    1 → many
    2L(21104599-21134255)
    worm
    (Caenorhabditis elegans)
    Secernentea nhx-23 NA(+)/H(+) exchanger 41(a)
    (best of 5)
      II(7690740-7693816)   --


    ENSEMBL Gene Tree for SLC9A1 (if available)
    TreeFam Gene Tree for SLC9A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC9A1 gene
    SLC9A82  SLC9A32  SLC9A62  SLC9A92  SLC9A52  SLC9A22  SLC9A42  SLC9A72  
    6 SIMAP similar genes for SLC9A1 using alignment to 3 protein entries:     SL9A1_HUMAN (see all proteins):
    SLC9A4    SLC9A5    Na+/H+ exchanger isoform NHE-3    Na+/H+ exchanger isoform NHE-2    SLC9A2    SLC9A3

    SLC9A1 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) 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

    10/1197 SNPs in SLC9A1 are shown (see all 1197)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs171624431,2
    C,F,H--25678520(+) CCCACT/CGCCCT 2 -- ds500113Minor allele frequency- C:0.05NA NS EA CSA WA 1430
    rs358928991,2
    C--25678820(+) GCACT-/GGTTAGTG 2 -- ds50011Minor allele frequency- GGT:0.00NA 2
    rs563595341,2
    C--25687435(+) CCAGCA/CCCTCT 2 -- int10--------
    rs585112171,2
    C--25687440(+) CCCTCC/TACACA 2 -- int11Minor allele frequency- T:0.00CSA 1
    rs1494002691,2
    --25687441(+) CTCTA-/CACA  
      CACCCC
    CACAC
    2 -- int10--------
    rs1132061101,2
    C--25687452(+) ACCCAA/GCCCCT 2 -- int10--------
    rs2014552421,2
    C--25687475(+) AGCCCC/TTCCAC 2 -- int10--------
    rs1995852421,2
    C--25687477(+) CCCTTC/GCACAT 2 -- int10--------
    rs2021968841,2
    --25687583(+) ATACT-/ACACACA 2 -- int10--------
    rs558349071,2
    C,F--25687588(+) ACACAC/TACACA 2 -- int13Minor allele frequency- T:0.20WA NA EA 358

    HapMap Linkage Disequilibrium report for SLC9A1 (27425300 - 27493472 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC9A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659298CNV Deletion23128226
    nsv509058CNV Insertion20534489
    esv28309CNV Loss19812545
    nsv834535CNV Gain+Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 107310    OMIM disorders: --

    20/47 diseases for SLC9A1 (see all 47):    About MalaCards
    myocardial stunning    metabolic acidosis    gastroesophageal reflux disease    febrile seizures
    essential hypertension    leptospirosis    malignant glioma    acute myocardial infarction
    lactic acidosis    morquio syndrome b    hyperglycemia    myocardial infarction
    metabolic disorders    ischemia    diarrhea    eclampsia
    pre-eclampsia    hypertension    lung adenocarcinoma    choroiditis


    SLC9A1 for disorders           About GeneDecksing

    10/37 Novoseek inferred disease relationships for SLC9A1 gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acidosis 69.3 13 17209041 (2), 17982257 (1), 8389452 (1), 7961730 (1) (see all 11)
    hypertrophy 42.6 23 15808834 (3), 15674430 (2), 17429605 (2), 18329039 (2) (see all 14)
    cardiac hypertrophy 35.4 5 19063706 (2), 17429605 (1), 18776042 (1), 18508719 (1)
    essential hypertension 32.7 8 7875760 (2), 8806985 (2), 9683037 (2), 9008252 (1)
    diabetic nephropathies 31.1 4 7783665 (1), 10860861 (1), 7698504 (1)
    ischemia 30.8 19 18511042 (4), 12650871 (3), 17664275 (2), 16586098 (1) (see all 12)
    heart failure 28.3 25 12223070 (3), 11518188 (3), 18329039 (3), 11964375 (3) (see all 10)
    infarct 26.9 10 11704395 (2), 12223070 (1), 10836732 (1), 18329039 (1) (see all 8)
    myocardial stunning 21.9 1 12831348 (1)
    metabolic acidosis 17.8 5 7511337 (3), 7599192 (1)

    Genetic Association Database (GAD): SLC9A1
    Human Genome Epidemiology (HuGE) Navigator: SLC9A1 (3 documents)

    Export disorders for SLC9A1 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)
    About This Section

    PubMed articles for SLC9A1 gene, integrated from 9 sources (see all 406):
    (articles sorted by number of sources associating them with SLC9A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and analysis of the human myocardial Na+/H+ exchanger. (PubMed id 8283968)1, 2, 3, 9 Fliegel L.... Haworth R.S. (1993)
    2. Role of calcineurin B homologous protein in pH regulation by the Na+/H+ exchanger 1: tightly bound Ca2+ ions as important structural elements. (PubMed id 15035633)1, 2, 9 Pang T....Wakabayashi S. (2004)
    3. Solution structure of the cytoplasmic region of Na+/H+ exchanger 1 complexed with essential cofactor calcineurin B homologous protein 1. (PubMed id 17050540)1, 2, 9 Mishima M....Kojima C. (2007)
    4. Human homolog of mouse tescalcin associates with Na(+)/H(+) exchanger type-1. (PubMed id 11696366)1, 2, 9 Mailaender J.... Dedio J. (2001)
    5. Silent polymorphisms within the coding region of human sodium/hydrogen exchanger isoform-1 cDNA in peripheral blood mononuclear cells of leukemia patients: a comparison with healthy controls. (PubMed id 10913675)1, 2, 9 Garden O.A.... Rich I.N. (2000)
    6. A calcineurin homologous protein inhibits GTPase-stimulated Na-H exchange. (PubMed id 8901634)1, 2, 9 Lin X. and Barber D.L. (1996)
    7. A novel topology model of the human Na(+)/H(+) exchanger isoform 1. (PubMed id 10713111)1, 2, 9 Wakabayashi S.... Shigekawa M. (2000)
    8. Structural and functional characterization of transmembrane segment IV of the NHE1 isoform of the Na+/H+ exchanger. (PubMed id 15677483)1, 2, 9 Slepkov E.R.... Fliegel L. (2005)
    9. Proline residues in transmembrane segment IV are critical for activity, expression and targeting of the Na+/H+ exchanger isoform 1. (PubMed id 14680478)1, 2, 9 Slepkov E.R.... Fliegel L. (2004)
    10. Genetic susceptibility to febrile seizures: case-cont rol association studies. (PubMed id 19854014)1, 4 Kira R....Hara T. (2010)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6548 HGNC: 11071 AceView: SLC9A1 Ensembl:ENSG00000090020 euGenes: HUgn6548
    ECgene: SLC9A1 Kegg: 6548 H-InvDB: SLC9A1

    (According to HUGE)
    About This Section
      --

    (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 SLC9A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC9A1 gene:
    Search GeneIP for patents involving SLC9A1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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