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SLC24A1 Gene

protein-coding   GIFtS: 62
GCID: GC15P066001

Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger),...

  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 24 (Sodium/Potassium/Calcium Exchanger), Member
11 2
     NCKX2
NCKX12 3 5     RODX2
Solute Carrier Family 24 Member 12 3     Retinal Rod Na+/Ca+/K+ Exchanger2
Na(+)/K(+)/Ca(2+)-Exchange Protein 12 3     Sodium/Potassium/Calcium Exchanger 12
CSNB1D2 5     KIAA07023
HsT174122     Retinal Rod Na-Ca+K Exchanger3

External Ids:    HGNC: 109751   Entrez Gene: 91872   Ensembl: ENSG000000746217   OMIM: 6036175   UniProtKB: O607213   

Export aliases for SLC24A1 gene to outside databases

Previous GC identifers: GC15P061706 GC15P059013 GC15P063482 GC15P063630 GC15P063690 GC15P065914 GC15P042738


(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 SLC24A1 Gene:
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein
plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the
extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may
play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple
isoforms have been observed for this gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for SLC24A1 Gene:
SLC24A1 (solute carrier family 24 (sodium/potassium/calcium exchanger), member 1) is a protein-coding gene. Diseases associated with SLC24A1 include night blindness, congenital stationary , 1d, autosomal recessive, and congenital stationary night blindness, type 1d. GO annotations related to this gene include calcium, potassium:sodium antiporter activity and symporter activity. An important paralog of this gene is SLC24A3.

UniProtKB/Swiss-Prot: NCKX1_HUMAN, O60721
Function: Critical component of the visual transduction cascade, controlling the calcium concentration of outer
segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment
of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via
this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in
exchange for 4 Na(+)




(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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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC24A1 gene promoter:
         STAT1   AML1a   Pax-2   STAT1beta   Pax-2a   STAT1alpha   HEN1   PPAR-gamma1   Pax-2b   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC24A1 promoter sequence
   Search Chromatin IP Primers for SLC24A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC24A1


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

Entrez Gene cytogenetic band: 15q22   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q22.31

SLC24A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC24A1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P066001:  view genomic region     (about GC identifiers)

Start:
65,903,704 bp from pter      End:
65,953,333 bp from pter
Size:
49,630 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: NCKX1_HUMAN, O60721 (See protein sequence)
Recommended Name: Sodium/potassium/calcium exchanger 1  
Size: 1099 amino acids; 121374 Da
Secondary accessions: O43485 O75184
Alternative splicing: 2 isoforms:  O60721-1   O60721-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC24A1: NX_O60721

Explore proteomics data for SLC24A1 at MOPED

Post-translational modifications: 

  • The uncleaved signal sequence is required for efficient membrane targeting and proper membrane integration1
  • Glycosylation2 at Asn290
  • Modification sites at PhosphoSitePlus

  • See SLC24A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001241669.1  NP_004718.1  

    ENSEMBL proteins: 
     ENSP00000439693   ENSP00000261892   ENSP00000445163   ENSP00000381991   ENSP00000439190  
     ENSP00000445577   ENSP00000341837  
    Reactome Protein details: O60721

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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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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Sodium/potassium/calcium exchanger 1
    SLC24 family of sodium/potassium/calcium exchangers

    3 InterPro protein domains:
     IPR004817 K-dep_Na/Ca-exchanger
     IPR004481 K/Na/Ca-exchanger
     IPR004837 NaCa_Exmemb

    Graphical View of Domain Structure for InterPro Entry O60721

    ProtoNet protein and cluster: O60721

    1 Blocks protein domain: IPB004837 Sodium/calcium exchanger membrane region

    UniProtKB/Swiss-Prot: NCKX1_HUMAN, O60721
    Similarity: Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily


    SLC24A1 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: NCKX1_HUMAN, O60721
    Function: Critical component of the visual transduction cascade, controlling the calcium concentration of outer
    segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment
    of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via
    this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in
    exchange for 4 Na(+)

         Genatlas biochemistry entry for SLC24A1:
    solute carrier family 24 (sodium/potassium/calcium exchanger),calcium extrusion protein,exclusively expressed in
    retinal rod photoreceptor,outer segments

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17474147
    GO:0008273calcium, potassium:sodium antiporter activity NAS9478004
    GO:0015293symporter activity IEA--
         
    SLC24A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC24A1:
     Decreased Wnt reporter activit 

    Animal Models:
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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
    NCKX1_HUMAN, O60721: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton1
    endoplasmic reticulum1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9478004
    GO:0016020membrane TAS9478004
    GO:0016021integral component of membrane ----
    GO:0019867outer membrane NAS9856482

    SLC24A1 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 SLC24A1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1The phototransduction cascade
    The phototransduction cascade0.51
    Phototransduction0.51
    Visual signal transduction- Rods0.51
    Activation of the phototransduction cascade0.00
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Sodium/Calcium exchangers0.00
    3Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    4Signaling by GPCR
    Signal Transduction0.58
    5Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SLC24A1
        Visual Cycle in Retinal Rods

    1 BioSystems Pathway for SLC24A1
        Visual signal transduction- Rods

    2 Reactome Pathways for SLC24A1
        Sodium/Calcium exchangers
    Activation of the phototransduction cascade


    1 Kegg Pathway  (Kegg details for SLC24A1):
        Phototransduction


    SLC24A1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC24A1
    Interactions:

        GeneGlobe Interaction Network for SLC24A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for SLC24A1 (O607211, 3 ENSP000002618924) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 3, ENSP000002889864EBI-1753504,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    PIK3R1P279863, ENSP000002743354I2D: score=1 STRING: ENSP00000274335
    CNGA1P299733, ENSP000003842644I2D: score=2 STRING: ENSP00000384264
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9478004
    GO:0006811ion transport TAS--
    GO:0006816calcium ion transport NAS7539424
    GO:0007601visual perception NAS9856482
    GO:0007603phototransduction, visible light TAS--

    SLC24A1 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 compounds at ApexBio 

    Browse Tocris compounds for SLC24A1 (NCKX1)

    2 HMDB Compounds for SLC24A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    SodiumSodium (see all 2)7440-23-5--

    5 Novoseek inferred chemical compound relationships for SLC24A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gramicidin 62.4 2 12472886 (2)
    calcium 45 39 12472886 (3), 15987935 (3), 17716241 (2), 12218699 (2) (see all 11)
    sodium 31.2 4 10545508 (1), 12525183 (1), 12502573 (1), 11352736 (1)
    potassium 12.2 6 12525183 (2), 10662833 (1), 12502573 (1)
    nmda 4.22 6 12472886 (3), 15198672 (2)



    SLC24A1 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 SLC24A1 gene (2 alternative transcripts): 
    NM_001254740.1  NM_004727.2  

    Unigene Cluster for SLC24A1:

    Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
    Hs.173092  [show with all ESTs]
    Unigene Representative Sequence: NM_004727
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434116(uc010ujd.1) ENST00000425561 ENST00000537259(uc010uje.1)
    ENST00000535950 ENST00000261892(uc010ujf.2 uc010ujg.2) ENST00000544319
    ENST00000399033 ENST00000546330 ENST00000449142 ENST00000539516 ENST00000505666
    ENST00000339868(uc010ujh.2 uc010uji.2)
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    Additional mRNA sequence: 

    AF026132.1 AF062921.1 AF062922.1 AK300633.1 AK304006.1 BC012630.1 BC029407.1 BC038462.1 
    BC117263.1 BC143375.1 

    12 DOTS entries:

    DT.110247  DT.310119  DT.100741353  DT.97765709  DT.100736922  DT.92422016  DT.121039387  DT.91881150 
    DT.121039484  DT.40197910  DT.422698  DT.92061312 

    Selected AceView cDNA sequences (see all 64):

    AA410376 AI636262 AL712837 BQ050892 BU155715 BM129801 BQ962631 AF062921 
    BM693326 BM129630 AB014602 BX118312 AF026132 AI934907 BE048444 BM685582 
    AI262477 AL712714 AI827705 CB958291 BE379848 BM663353 AI379411 BC038462 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC24A1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for SLC24A1

    (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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    SLC24A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAATGATT
    SLC24A1 Expression
    About this image

    SLC24A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC24A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.173092

    UniProtKB/Swiss-Prot: NCKX1_HUMAN, O60721
    Tissue specificity: Expressed in the retina, particularly in the inner segment, outer and inner nuclear layers,
    and ganglion cell layer

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

    Orthologs for SLC24A1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc24a11 , 5 solute carrier family 24 (sodium/potassium/calcium more1, 5 75.89(n)1
    65.14(a)1
      9 (35.00 cM)5
    2141111  NM_144813.11  NP_659062.11 
     649228615 
    chicken
    (Gallus gallus)
    Aves SLC24A11 solute carrier family 24 (sodium/potassium/calcium more 70.93(n)
    72.94(a)
      414892  NM_001001773.1  NP_001001773.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.176012 Xenopus laevis transcribed sequence with moderate similarity more 76.64(n)    BX844358.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc24a11 solute carrier family 24 (sodium/potassium/calcium more 65.84(n)
    65.95(a)
      558299  XM_001921942.2  XP_001921977.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG10903 calcium, potassium:sodium antiporter 38(a)   82A5   --
    worm
    (Caenorhabditis elegans)
    Secernentea ncx-43
    ncx-51
    Na/Ca,K exchanger3
    ncx-51
    50(a)3
    57.44(n)1
    58.75(a)1
      I(9816958-9820866)3
    1917151  NM_073289.21  NP_505690.21 


    ENSEMBL Gene Tree for SLC24A1 (if available)
    TreeFam Gene Tree for SLC24A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC24A1 gene
    SLC24A32  SLC24A52  SLC8B12  SLC24A42  SLC24A22  
    Selected SIMAP similar genes for SLC24A1 using alignment to 5 protein entries:     NCKX1_HUMAN (see all proteins) (see all similar genes):
    CALCOCO2    IK    C14orf105    RBP7    ZNF429    NLN
    TNNT1    DUSP3    MTO1    PDILT    TAF2    ZNF257
    GALK2    C12orf76    CSPP1    EIF3G    EIF3K    LSM12

    SLC24A1 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 SLC24A1 (see all 723)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1113101111,2
    C--42756140(+) GCCCACTGA    
       GGC
    /-
    CTGTG
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs38304371,2
    C--42756144(+) CACTG-/AG    
       GCCTG
    TGCGG
    1 -- int10--------
    rs71623071,2
    C--45969629(+) atataA/Taatgt 1 -- us2k10--------
    rs2021105491,2
    C--45969742(+) TTCAG-/GGTGAA 1 -- us2k10--------
    rs620131191,2
    C--45969812(+) TAATCA/CGGTGA 1 -- us2k13Minor allele frequency- C:0.06NA WA 240
    rs1464393971,2
    C--45969853(+) TAACAA/GTGAAA 1 -- us2k10--------
    rs771027361,2
    F--45969940(+) GCACTA/GTTAAT 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs1901960331,2
    --45969976(+) ACAACA/GACCCT 1 -- us2k10--------
    rs620131201,2
    C,F--45970028(+) GAGAGG/ATTTAT 1 -- us2k13Minor allele frequency- A:0.05WA NA EA 358
    rs767023861,2
    C,F--45970102(+) CTTGGT/CTGAGC 1 -- us2k13Minor allele frequency- C:0.10NA 124

    HapMap Linkage Disequilibrium report for SLC24A1 (65903704 - 65953333 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC24A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv904314CNV Loss21882294
    nsv833043CNV Loss17160897
    nsv820238CNV Loss19587683
    dgv2400n71CNV Loss21882294
    nsv833042CNV Loss17160897

    Human Gene Mutation Database (HGMD): SLC24A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC24A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC24A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603617   
    OMIM disorders: 613830  
    UniProtKB/Swiss-Prot: NCKX1_HUMAN, O60721
  • Night blindness, congenital stationary, 1D (CSNB1D) [MIM:613830]: An autosomal recessive form of
    congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision.
    CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients
    have visual acuity within the normal range and no symptoms of myopia and/or nystagmus. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 15 diseases for SLC24A1:    
    About MalaCards
    night blindness, congenital stationary , 1d, autosomal recessive    congenital stationary night blindness, type 1d    autosomal recessive congenital stationary night blindness    congenital stationary night blindness
    retinitis    night blindness    blindness    retinal disease
    brain ischemia    myopia    ischemia    cerebritis
    multiple myeloma    myeloma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SLC24A1:
    Brain ischemia

    SLC24A1 for disorders           About GeneDecksing


    Export disorders for SLC24A1 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 SLC24A1 gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with SLC24A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchanger. (PubMed id 9856482)1, 2, 3, 9 Tucker J.E.... Schnetkamp P.P.M. (Hum. Genet. 1998)
    2. The retinal rod Na(+)/Ca(2+),K(+) exchanger contains a noncleaved signal sequence required for translocation of the N-terminus. (PubMed id 10608890)1, 2, 9 McKiernan C.J. and Friedlander M. (J. Biol. Chem. 1999)
    3. A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. (PubMed id 20850105)1, 2 Riazuddin S.A....Hejtmancik J.F. (Am. J. Hum. Genet. 2010)
    4. cDNA cloning of the human retinal rod Na-Ca + K exchanger: comparison with a revised bovine sequence. (PubMed id 9478004)1, 2 Tucker J.E.... Schnetkamp P.P.M. (Invest. Ophthalmol. Vis. Sci. 1998)
    5. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2 Ishikawa K.... Ohara O. (DNA Res. 1998)
    6. Molecular cloning and functional expression of the potassium- dependent sodium-calcium exchanger from human and chicken retinal cone photoreceptors. (PubMed id 10662833)1, 9 Prinsen C.F.M.... Schnetkamp P.P.M. (J. Neurosci. 2000)
    7. The SLC24 Na+/Ca2+-K+ exchanger family: vision and beyond. (PubMed id 14770312)1, 9 Schnetkamp P.P. (Pflugers Arch. 2004)
    8. Topology of the retinal cone NCKX2 Na/Ca-K exchanger. (PubMed id 12600216)1, 9 Kinjo T.G.... Schnetkamp P.P. (Biochemistry 2003)
    9. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PubMed id 20139978)1 Kamatani Y....Kamatani N. (Nat. Genet. 2010)
    10. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 9187 HGNC: 10975 AceView: SLC24A1 Ensembl:ENSG00000074621 euGenes: HUgn9187
    ECgene: SLC24A1 Kegg: 9187 H-InvDB: SLC24A1

    (According to HUGE)
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    HUGE: KIAA0702

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SLC24A1 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for SLC24A1 gene:
    Search GeneIP for patents involving SLC24A1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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