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

SLC9B1 Gene

protein-coding   GIFtS: 42
GCID: GC04M103808

Solute Carrier Family 9, Subfamily B (NHA1, Cation Proton...

(Previous names: Na+/H+ exchanger domain containing 1, solute carrier family...)
(Previous symbol: NHEDC1)
  Search for SLC9B1
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

Aliases
Solute Carrier Family 9, Subfamily B (NHA1, Cation Proton Antiporter
1), Member 11 2
     NHE Domain-Containing Protein 12 3
NHEDC11 2 3 5     Na+/H+ Exchanger Domain Containing 11
Solute Carrier Family 9, Subfamily B (Cation Proton Antiporter 2), Member
11 2
     NHA12
Sodium/Hydrogen Exchanger-Like Domain-Containing Protein 12 3     Sodium/Hydrogen Exchanger 9B12
Na(+)/H(+) Exchanger-Like Domain-Containing Protein 12 3     Solute Carrier Family 9 Subfamily B Member 13

External Ids:    HGNC: 242441   Entrez Gene: 1501592   Ensembl: ENSG000001640377   OMIM: 6115275   UniProtKB: Q4ZJI43   

Export aliases for SLC9B1 gene to outside databases


(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 SLC9B1 Gene:
The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved
orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to
testis. Multiple transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Jul 2010)

GeneCards Summary for SLC9B1 Gene: 
SLC9B1 (solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1) is a protein-coding gene. Among its related super-pathways are Stimuli-sensing channels and SLC-mediated transmembrane transport. GO annotations related to this gene include solute:hydrogen antiporter activity. An important paralog of this gene is SLC9B2.




(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_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SLC9B1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC9B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC9B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC9B1


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

Entrez Gene cytogenetic band: 4q24   Ensembl cytogenetic band:  4q24   HGNC cytogenetic band: 4q24

SLC9B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC9B1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M103808:  view genomic region     (about GC identifiers)

Start:
103,806,205 bp from pter      End:
103,940,896 bp from pter
Size:
134,692 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: SL9B1_HUMAN, Q4ZJI4 (See protein sequence)
Recommended Name: Sodium/hydrogen exchanger 9B1  
Size: 515 amino acids; 56054 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAM22868.1; Type=Frameshift; Positions=219, 298, 381;
Secondary accessions: A1KXV1 B9EH04 C9JBP7 Q49A30 Q8NCV2 Q8WVZ0
Alternative splicing: 4 isoforms:  Q4ZJI4-1   Q4ZJI4-2   Q4ZJI4-3   Q4ZJI4-5   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for SLC9B1: NX_Q4ZJI4

Explore proteomics data for SLC9B1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q4ZJI4

  • SLC9B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC9B1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001094344.1  NP_631912.2  

    ENSEMBL proteins: 
     ENSP00000378269   ENSP00000426926   ENSP00000426584   ENSP00000296422   ENSP00000423072  
     ENSP00000425544   ENSP00000425913   ENSP00000426056   ENSP00000426325  
    Reactome Protein details: Q4ZJI4
    Human Recombinant Protein Products for SLC9B1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--

    SLC9B1 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

    1 InterPro protein domain:
     IPR006153 Cation/H_exchanger

    Graphical View of Domain Structure for InterPro Entry Q4ZJI4

    ProtoNet protein and cluster: Q4ZJI4

    1 Blocks protein domain: IPB006153 Sodium/hydrogen exchanger

    UniProtKB/Swiss-Prot: SL9B1_HUMAN, Q4ZJI4
    Similarity: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family


    SLC9B1 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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015299solute:hydrogen antiporter activity IEA--
         
    SLC9B1 for ontologies           About GeneDecksing


    Animal Models:
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    (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 SLC9B1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Stimuli-sensing channels0.49
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for SLC9B1
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    SLC9B1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC9B1

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    SLC9B1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC9B1 (SL9B1)

    Search CenterWatch for drugs/clinical trials and news about SLC9B1 / SL9B1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC9B1 gene (2 alternative transcripts): 
    NM_001100874.2  NM_139173.3  

    Unigene Cluster for SLC9B1:

    Solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1
    Hs.666728  [show with all ESTs]
    Unigene Representative Sequence: NM_139173
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394789(uc003hwu.3 uc010ilm.3) ENST00000503584(uc003hwv.3)
    ENST00000514972 ENST00000296422(uc003hww.3 uc011cev.2) ENST00000504216
    ENST00000509614 ENST00000512651 ENST00000511253 ENST00000510243 ENST00000514340
    ENST00000510559
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    Additional mRNA sequence: 

    AF447585.1 AK313592.1 AY461581.1 BC046636.1 BC110794.1 BC132712.1 BC136966.1 BC144443.1 
    DQ003059.1 NR_047513.1 NR_047515.1 

    9 DOTS entries:

    DT.95368370  DT.95242902  DT.70102815  DT.121253097  DT.121253205  DT.75100658  DT.97771489  DT.99986613 
    DT.96085317 

    24/115 AceView cDNA sequences (see all 115):

    F10816 BC009732 AA233152 BM702572 BM669493 BX454520 BX640844 BX359761 
    Z40158 BX381078 AA233228 BF724499 AI239938 BI962996 AI367621 BQ286748 
    BM971864 BM834042 BI914487 BF724498 BM683318 BX494716 BG284074 BI560032 

    GeneLoc Exon Structure


    (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

    SLC9B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC9B1 Expression
    About this image


    See SLC9B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC9B1

    SOURCE GeneReport for Unigene cluster: Hs.666728

    UniProtKB/Swiss-Prot: SL9B1_HUMAN, Q4ZJI4
    Tissue specificity: Expressed only in the testis

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    In Situ
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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 SLC9B1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc9b15
    Nhedc11
    Na+/H+ exchanger domain containing 11, 5 76.53(n)1
    68.96(a)1
      3 (62.55 cM)5
    744461  NM_028946.31  NP_083222.21 
     1353480295 
    chicken
    (Gallus gallus)
    Aves SLC9B26
    Uncharacterized protein
    50(a)
    1 → many
    4(60563363-60581026)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01072557.16
    si:dkey-162b23.46
    (see all 3)
    si:dkey-162b23.4
    (see all 3)
    47(a)
    40(a)
    (see all 3)
    possible ortholog
    many ↔ many
    (see all 3)
    23(44261982-44266504)
    1(44077553-44094640)
    fruit fly
    (Drosophila melanogaster)
    Insecta Nha16
    Nha26
    Na[+]/H[+] hydrogen antiporter 2
    21(a)
    19(a)
    many ↔ many
    many ↔ many
    2L(6860903-6870387)
    3R(18807181-18824250)
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F57G8.51 Protein F57G8.5 45.38(n)
    31.22(a)
      180097  NM_074729.3  NP_507130.2 


    ENSEMBL Gene Tree for SLC9B1 (if available)
    TreeFam Gene Tree for SLC9B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC9B1 gene
    SLC9B22  SLC9B1P12  
    2 SIMAP similar genes for SLC9B1 using alignment to 6 protein entries:     SL9B1_HUMAN (see all proteins):
    SLC9B1P1    SLC9B2

    SLC9B1 for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for SLC9B1 (see all 6)
    PGOHUM00000238423 PGOHUM00000238749 PGOHUM00000249074 PGOHUM00000246197 PGOHUM00000263083


    (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

    10/2855 SNPs in SLC9B1 are shown (see all 2855)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2233141,2
    C,F,A,H--103608145(+) TAGATG/ATATCT 3 -- ds500111Minor allele frequency- A:0.37NS NA WA EA 592
    rs170333771,2
    C,F--103608147(+) GATGTA/TTCTTA 3 -- ds50014Minor allele frequency- T:0.10NA EA 234
    rs1486576781,2
    C--103608364(+) GTTTT-/CTTAA 
            
    CTTAT
    3 -- ds50010--------
    rs1128887241,2
    C,F--103608416(+) CATAAC/TTCCTA 3 -- ds50012Minor allele frequency- T:0.11WA 120
    rs757225311,2
    C,F--103608630(+) AGTAAC/AAAAGA 3 -- ut31 nc-transcript-variant1Minor allele frequency- A:0.04WA 118
    rs1491686171,2
    C--103608654(+) GAAAC-/TAGACAT 6 -- ut31 nc-transcript-variant0--------
    rs352822001,2
    C,F--103608655(+) GAAACTA/-GACAT 3 -- ut31 nc-transcript-variant4Minor allele frequency- -:0.33NA CSA 12
    rs1419873321,2
    C--103608690(+) AGCACA/TGCAGA 3 -- ut31 nc-transcript-variant0--------
    rs1902128741,2
    C--103608710(+) ATCTAA/CATGTT 3 -- nc-transcript-variantut310--------
    rs1462995281,2
    C--103608734(+) GCTTCA/GGTTAT 3 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for SLC9B1 (103806205 - 103940896 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for SLC9B1 (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2678594CNV Deletion23128226
    esv2178050CNV Deletion18987734
    esv2728081CNV Deletion23290073
    nsv436415CNV Deletion17901297
    esv988357CNV Deletion20482838
    esv2588063CNV Deletion19546169
    esv2670006CNV Deletion23128226
    esv1026728CNV Deletion17803354
    nsv4445CNV Insertion18451855
    nsv830021CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SLC9B1 for disorders           About MalaCards
    OMIM gene information: 611527    OMIM disorders: --


    SLC9B1 for disorders           About GeneDecksing


    Export disorders for SLC9B1 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 SLC9B1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SLC9B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a novel human NHEDC1 (Na+/H+ exchanger like domain containing 1) gene expressed specifically in testis. (PubMed id 16850186)1, 2, 3 Ye G.... Yu L. (2006)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 150159 HGNC: 24244 AceView: LOC150159 Ensembl:ENSG00000164037 euGenes: HUgn150159
    ECgene: SLC9B1 H-InvDB: SLC9B1

    (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 SLC9B1 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 SLC9B1 gene:
    Search GeneIP for patents involving SLC9B1

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



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