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SLC8A1 Gene

protein-coding   GIFtS: 67
GCID: GC02M040339

Solute Carrier Family 8 (Sodium/Calcium Exchanger), Member...


(Previous symbol: NCX1)
  See SLC8A1-related disease
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 8 (Sodium/Calcium Exchanger), Member 11 2     Na(+)/Ca(2+)-Exchange Protein 12 3
NCX11 2 3 5     Na+/Ca2+ Exchanger2
Na+/Ca++ Exchanger1 2     Sodium/Calcium Exchanger 12
Solute Carrier Family 8 Member 12 3     CNC3

External Ids:    HGNC: 110681   Entrez Gene: 65462   Ensembl: ENSG000001830237   OMIM: 1823055   UniProtKB: P324183   

Export aliases for SLC8A1 gene to outside databases

Previous GC identifers: GC02M040318 GC02M040500 GC02M040316 GC02M040253 GC02M040078


(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 SLC8A1 Gene:
In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during
relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from
intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During
relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular
stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger
is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the
exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the
cardiac myocyte to its resting state following excitation.(supplied by OMIM, Apr 2004)

GeneCards Summary for SLC8A1 Gene:
SLC8A1 (solute carrier family 8 (sodium/calcium exchanger), member 1) is a protein-coding gene. Diseases associated with SLC8A1 include aromatase deficiency. GO annotations related to this gene include cytoskeletal protein binding and calmodulin binding. An important paralog of this gene is SLC8A3.

UniProtKB/Swiss-Prot: NAC1_HUMAN, P32418
Function: Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell
during relaxation so as to prevent overloading of intracellular stores

summary for SLC8A1 Gene:
The Na+/Ca2+ exchanger (NCX) is a low affinity, high capacitance calcium antiporter membrane protein that
functions to regulate intracellular calcium concentrations. It is located on the plasma, mitochondrial and
endoplasmic reticular membranes of excitable cells. Using the electrochemical gradient of Na+, one Ca2+ ion
is transported in exchange for three Na+ ions. The Na+/Ca2+ exchanger compliments the high affinity, low
capacitance Ca2+-ATPase and together, they are involved in a variety of cellular functions including control
of neurosecretion, relaxation of cardiac muscle, maintenance of intracellular Ca2+ stores in the endoplasmic
and sarcoplasmic reticuli and excitation-relaxation coupling. Under normal physiological conditions,
Na+/Ca2+ exchangers export Ca+ from the cell. However, under cellular stress, such as excitotoxicity, they
can switch to 'reverse mode', which has a protective effect.




(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 at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC8A1 gene promoter:
         FOXD3   MyoD   E47   CREB   Ik-2   deltaCREB   Hand1   Sox9   Msx-1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC8A1 promoter sequence
   Search Chromatin IP Primers for SLC8A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC8A1


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

Entrez Gene cytogenetic band: 2p22.1   Ensembl cytogenetic band:  2p22.1   HGNC cytogenetic band: 2p22.1

SLC8A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC8A1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M040339:  view genomic region     (about GC identifiers)

Start:
40,324,410 bp from pter      End:
40,838,193 bp from pter
Size:
513,784 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: NAC1_HUMAN, P32418 (See protein sequence)
Recommended Name: Sodium/calcium exchanger 1 precursor  
Size: 973 amino acids; 108547 Da
Sequence caution: Sequence=AAH98308.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K6N1 D6W595 O95849 Q4QQG6 Q587I6 Q59GN4 Q9UBL8 Q9UD55 Q9UDN1 Q9UDN2
Q9UKX6
Alternative splicing: 5 isoforms:  P32418-1   P32418-2   P32418-3   P32418-4   P32418-5   

Explore the universe of human proteins at neXtProt for SLC8A1: NX_P32418

Explore proteomics data for SLC8A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn44, Asn160
  • Modification sites at PhosphoSitePlus

  • See SLC8A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001106271.1  NP_001106272.1  NP_001106273.1  NP_001239553.1  NP_066920.1  

    ENSEMBL proteins: 
     ENSP00000383886   ENSP00000386116   ENSP00000384763   ENSP00000385678   ENSP00000385188  
     ENSP00000385535   ENSP00000384908   ENSP00000389330   ENSP00000398575   ENSP00000412560  
     ENSP00000440727   ENSP00000332931   ENSP00000385811   ENSP00000443515  
    Reactome Protein details: P32418

    SLC8A1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SLC8A1 

    SLC8A1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SLC8A1
    R&D Systems Antibodies for SLC8A1 (Sodium Calcium Exchanger 1/NCX1)
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    LSBio Antibodies in human, mouse, rat for SLC8A1

    SLC8A1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SLC8A1 


    (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/calcium exchanger 1
    SLC8 family of sodium/calcium exchangers

    5 InterPro protein domains:
     IPR003644 Calx_beta
     IPR002987 NaCa_exhngr1
     IPR001623 DnaJ_domain
     IPR004837 NaCa_Exmemb
     IPR004836 Na_Ca_Ex

    Graphical View of Domain Structure for InterPro Entry P32418

    ProtoNet protein and cluster: P32418

    4 Blocks protein domains:
    IPB002987 Na+/Ca2+ exchanger isoform 1 signature
    IPB003644 Na-Ca exchanger/integrin-beta4
    IPB004836 Na+/Ca2+ exchanger signature
    IPB004837 Sodium/calcium exchanger membrane region


    UniProtKB/Swiss-Prot: NAC1_HUMAN, P32418
    Similarity: Belongs to the sodium/potassium/calcium exchanger family. SLC8 subfamily
    Similarity: Contains 2 Calx-beta domains


    Find genes that share domains with SLC8A1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NAC1_HUMAN, P32418
    Function: Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell
    during relaxation so as to prevent overloading of intracellular stores
    Enzyme regulation: By ATP

         Genatlas biochemistry entry for SLC8A1:
    solute carrier family 8 (sodium-calcium exchange),member 1,cardiac,expressed in sarcolemma

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005432calcium:sodium antiporter activity IDA1374913
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
    GO:0008092cytoskeletal protein binding IDA16292983
    GO:0030506ankyrin binding ISS--
         
    Find genes that share ontologies with SLC8A1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC8A1:
     Increased homologous recombina 

         10 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Slc8a1):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  mortality/aging  muscle 

    Find genes that share phenotypes with SLC8A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SLC8A1: Slc8a1tm2Kdp Slc8a1tm1Hssh Slc8a1tm1Yin

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC8A1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC8A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC8A1

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC8A1 (see all 64):
    hsa-miR-4291 hsa-miR-4328 hsa-miR-764 hsa-miR-650 hsa-miR-570 hsa-miR-223 hsa-miR-9 hsa-miR-629
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SLC8A1
    Predesigned siRNA for gene silencing in human, mouse, rat SLC8A1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): SLC8A1 (NM_001112800)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC8A1
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    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC8A1


    (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
    NAC1_HUMAN, P32418: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum3
    cytoskeleton2
    cytosol2
    extracellular2
    mitochondrion2

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005874microtubule ----
    GO:0005886plasma membrane TAS19095005
    GO:0005887integral component of plasma membrane IDA1374913
    GO:0014704intercalated disc ISS--

    Find genes that share ontologies with SLC8A1           About GenesLikeMe


    (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 SLC8A1 About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    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
    3Platelet homeostasis
    Platelet homeostasis
    Platelet calcium homeostasis0.00
    Reduction of cytosolic Ca++ levels0.00
    4Myometrial Relaxation and Contraction Pathways
    Myometrial Relaxation and Contraction Pathways0.43
    Calcium Regulation in the Cardiac Cell0.43
    5CREB Pathway
    Intracellular Calcium Signaling0.50


    Find genes that share SuperPaths with SLC8A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SLC8A1
        Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    Alpha-Adrenergic Signaling

    1 GeneGo (Thomson Reuters) Pathway for SLC8A1
        Signal transduction Calcium signaling

    3 BioSystems Pathways for SLC8A1
        Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell
    Arrhythmogenic right ventricular cardiomyopathy

    2 Reactome Pathways for SLC8A1
        Sodium/Calcium exchangers
    Reduction of cytosolic Ca++ levels


    Selected Kegg Pathways  (Kegg details for SLC8A1) (see all 9):
        Calcium signaling pathway
    Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Endocrine and other factor-regulated calcium reabsorption
    Protein digestion and absorption

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC8A1
    Interactions:

        GeneGlobe Interaction Network for SLC8A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for SLC8A1 (P324183 ENSP000003329314) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    ENSG00000230336Q018603I2D: score=1 
    ENSG00000233911Q018603I2D: score=1 
    ENSG00000235068Q018603I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 41):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia ----
    GO:0001892embryonic placenta development IEA--
    GO:0002026regulation of the force of heart contraction ISS--
    GO:0002027regulation of heart rate ISS--
    GO:0002028regulation of sodium ion transport ----

    Find genes that share ontologies with SLC8A1           About GenesLikeMe



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for SLC8A1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KB-R7943 mesylateNa+/Ca2+ exchange inhibitor (reverse mode)[182004-65-5]
    YM 244769Na+/Ca2+ exchange inhibitor (reverse mode); neuroprotective[837424-39-2]
    SN-6Selective Na+/Ca2+ exchange inhibitor (reverse mode)[415697-08-4]
    CGP 37157Antagonist of mitochondrial Na+/Ca2+ exchange[75450-34-9]

    2 HMDB Compounds for SLC8A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    SodiumSodium (see all 2)7440-23-5--

    2 DrugBank Compounds for SLC8A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-Linolenic Acid(9Z,12Z,15Z)-Octadecatrienoic acid (see all 5)463-40-1target--17059813 17139284 17016423
    IcosapentEicosapentaenoic acid (see all 4)10417-94-4targetinhibitor15358223

    Selected Novoseek inferred chemical compound relationships for SLC8A1 gene (see all 74)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sea 0400 85.5 5 17310075 (4), 15878358 (1)
    2,4-dichlorobenzamil 83.4 1 9740408 (1)
    3',4'-dichlorobenzamil 83.2 6 8839852 (1), 16192328 (1), 11350050 (1), 10707889 (1) (see all 5)
    p-mca 83 12 9502807 (2), 15541458 (1), 11734659 (1), 16121040 (1) (see all 10)
    bepridil 82.5 7 7906528 (1), 8839852 (1), 10737607 (1), 18277608 (1) (see all 7)
    calcium 80.9 1000 10191956 (7), 8745210 (7), 10993480 (5), 9357020 (5) (see all 99)
    thapsigargin 64.2 3 17010427 (1), 17383000 (1), 7585885 (1)
    ryanodine 60.4 4 9571987 (1), 8581510 (1), 18375576 (1), 16539635 (1)
    cyclopiazonic acid 57.2 2 7536095 (1), 7858841 (1)
    amiloride 57 5 1664334 (1), 7867686 (1), 7964866 (1), 9648857 (1) (see all 5)



    Find genes that share compounds with SLC8A1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC8A1 gene (5 alternative transcripts): 
    NM_001112800.1  NM_001112801.1  NM_001112802.1  NM_001252624.1  NM_021097.2  

    Unigene Clusters for SLC8A1:

    Solute carrier family 8 (sodium/calcium exchanger), member 1
    Hs.31961  [show with all ESTs], Hs.468274  [show with all ESTs]
    Unigene Representative Sequences: AK095013, NM_021097
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406785(uc002rsb.2 uc002rrz.3 uc002rsa.3 uc010fan.1 uc002rsd.4)
    ENST00000407929 ENST00000403092 ENST00000405901 ENST00000402441(uc002rsc.1)
    ENST00000405269 ENST00000408028 ENST00000455476 ENST00000448531 ENST00000417271
    ENST00000542756(uc002rrx.3 uc002rry.3) ENST00000332839 ENST00000406391
    ENST00000542024
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    Additional mRNA sequence: 

    AB209075.1 AF108388.1 AF108389.1 AF115505.1 AF128524.1 AK291696.1 BC098285.1 BC098308.1 
    BC098345.1 BX537482.1 BX648299.1 M91368.1 M96368.1 X91221.1 X91815.1 Y12878.1 
    Y12885.1 Y13032.1 Y13033.1 

    6 DOTS entries:

    DT.411377  DT.75190501  DT.100671994  DT.101962591  DT.120979738  DT.95264006 

    Selected AceView cDNA sequences (see all 63):

    AA331852 BM966799 BM966943 X91221 BI964237 BV199238 AW572167 AL119696 
    BU752893 N84834 C04777 BX502588 BM893576 CK004100 AA688377 AI271807 
    BI963916 CA941099 BX501230 CB963698 BQ012467 AI611734 AA883938 BM893683 

    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™, 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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    SLC8A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAAACAACA
    SLC8A1 Expression
    About this image


    SLC8A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Cardiomyocytes Outer Curvature
             Heart Tube
             Cardiomyocyte-like progenitor cells
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
    SLC8A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC8A1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.31961 Hs.468274

    UniProtKB/Swiss-Prot: NAC1_HUMAN, P32418
    Tissue specificity: Expressed in cardiac sarcolemma, brain, kidney, liver, pancreas, skeletal muscle, placenta and
    lung

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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 SLC8A1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc8a11 , 5 solute carrier family 8 (sodium/calcium exchanger), more1, 5 89.59(n)1
    95.05(a)1
      17 (51.29 cM)5
    205411  NM_011406.31  NP_035536.21 
     813886915 
    chicken
    (Gallus gallus)
    Aves SLC8A11 solute carrier family 8 (sodium/calcium exchanger), more 80.43(n)
    90.51(a)
      395760  NM_001079473.1  NP_001072941.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC8A16
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    94(a)
    92(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    1(253365545-253367242)
    1(253621810-253683402)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.236502 X.laevis mRNA for sodium-calcium exchanger 80.11(n)    X90838.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.190522 Transcribed sequence with moderate similarity to protein more 75.97(n)    BQ284787.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Calx3 calcium:sodium antiporter 46(a)   93B3   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y113G7A.43
    ncx-11
    ncx-11 45(a)
    (best of 2)3
    54.05(n)1
    50.91(a)1
      V(20097897-20112759)3
    1803181  NM_001047717.41  NP_001041182.11 


    ENSEMBL Gene Tree for SLC8A1 (if available)
    TreeFam Gene Tree for SLC8A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC8A1 gene
    SLC8A32  SLC8A22  GPR982  
    6 SIMAP similar genes for SLC8A1 using alignment to 6 protein entries:     NAC1_HUMAN (see all proteins):
    ncx1    DKFZp779F0871    SLC8A2    SLC8A3    NACAIS4    DKFZp761D171

    Find genes that share paralogs with SLC8A1           About GenesLikeMe



    (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 SLC8A1 (see all 6354)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1426121491,2
    Cuntested140656923(+) GGACCA/GAGGTC 10 L syn10--------
    rs6107761,2
    C,H--40483084(+) TAGAAC/GTGAAT 5 -- int16Minor allele frequency- G:0.07NA WA 14
    rs2000681751,2
    C--40483089(-) CAGTTA/CTTCAC 5 -- int10--------
    rs2017972421,2
    C--40483219(+) GGTAAC/TGACAA 5 -- int10--------
    rs1906110621,2
    --40483272(+) TTTCTA/GAAACC 5 -- int10--------
    rs1419913241,2
    C--40483329(+) TGATAC/TTGGAC 5 -- int10--------
    rs1151224091,2
    C,F--40483371(+) ACTCTT/CAAGGA 5 -- int11Minor allele frequency- C:0.02WA 118
    rs119039861,2
    C,F,A,H--40483373(+) TCTTAA/GGGACA 5 -- int124Minor allele frequency- G:0.09NS EA NA WA CSA 2560
    rs1817191871,2
    --40483387(+) CACACA/GCTCTG 5 -- int10--------
    rs1863689721,2
    C--40483390(+) ACACTC/TTGTGG 5 -- int10--------

    HapMap Linkage Disequilibrium report for SLC8A1 (40324410 - 40574410 bp, first 250kb of SLC8A1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC8A1 (see all 43):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2719954CNV Deletion23290073
    esv2672782CNV Deletion23128226
    esv1125657CNV Deletion17803354
    esv2536757CNV Deletion19546169
    esv2234750CNV Deletion18987734
    esv2719958CNV Deletion23290073
    esv2719961CNV Deletion23290073
    esv2719957CNV Deletion23290073
    esv2719956CNV Deletion23290073
    esv995388CNV Deletion20482838

    Human Gene Mutation Database (HGMD): SLC8A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC8A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC8A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 182305    OMIM disorders: --

    1 disease for SLC8A1:    
    About MalaCards
    aromatase deficiency

    1 disease from the University of Copenhagen DISEASES database for SLC8A1:
    Vascular disease

    Find genes that share disorders with SLC8A1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SLC8A1 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiac hypertrophy 48 2 12502566 (1), 18508719 (1)
    heart failure 43.5 9 19085808 (2), 16966329 (1), 12650877 (1), 17541957 (1) (see all 6)
    cell damage 34.7 12 16973719 (2), 15213295 (1), 17446489 (1), 7943783 (1) (see all 5)
    arrhythmia 33.9 2 15358223 (1), 19085808 (1)
    hypertrophy 26.2 5 9202844 (2), 16966329 (1), 17264507 (1)
    ischemia 24 18 16626636 (6), 15878358 (2), 11456400 (1), 12168723 (1) (see all 7)
    essential hypertension 23.8 1 15785003 (1)
    cardiomyopathy 23.4 2 16501819 (1), 12766734 (1)
    cardiovascular diseases 0 3 17435337 (1), 20109173 (1)
    genetic disorder 0 2 1559714 (1), 12710524 (1)

    Genetic Association Database (GAD): SLC8A1
    Human Genome Epidemiology (HuGE) Navigator: SLC8A1 (9 documents)

    Export disorders for SLC8A1 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 SLC8A1 gene, integrated from 10 sources (see all 330):
    (articles sorted by number of sources associating them with SLC8A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of genetic polymorphisms of sodium-calcium exchanger 1 gene, NCX1, with hypertension in a Japanese general population. (PubMed id 15785003)1, 4, 9 Kokubo Y....Miyata T. (Hypertens. Res. 2004)
    2. Molecular cloning and characterization of the human cardiac Na+/Ca2+ exchanger cDNA. (PubMed id 1374913)1, 2, 9 Komuro I.... Izumo S. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    3. Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits. (PubMed id 20109173)1, 4, 9 Kepp K....Laan M. (BMC Med. Genet. 2010)
    4. NCX1 Na/Ca exchanger splice variants in pancreatic islet cells. (PubMed id 11241183)1, 2, 9 Van Eylen F.... Herchuelz A. (J. Endocrinol. 2001)
    5. The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics. (PubMed id 15824464)1, 4, 9 Matayoshi T....Kawano Y. (Hypertens. Res. 2004)
    6. Mapping of the gene for the cardiac sarcolemmal Na(+)-Ca2+ exchanger to human chromosome 2p21-p23. (PubMed id 1559714)1, 3, 9 Shieh B.H....Philipson K.D. (Genomics 1992)
    7. The topology of the cardiac Na(+)/Ca(2)(+) exchanger, NCX1. (PubMed id 23376057)1, 2 Ren X. and Philipson K.D. (J. Mol. Cell. Cardiol. 2013)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    10. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6546 HGNC: 11068 AceView: SLC8A1 Ensembl:ENSG00000183023 euGenes: HUgn6546
    ECgene: SLC8A1 Kegg: 6546 H-InvDB: SLC8A1

    (According to HUGE)
    About This Section

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      --

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

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    NameDescription
    PharmGKB entry for SLC8A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC8A1 gene:
    Search GeneIP for patents involving SLC8A1

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



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