Version: 8.0.0
Date: Tue Jan 28 2025
Slc8a1
Mus musculusMGI:107956
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Slc8a1

Species
Mus musculus
Symbol
Slc8a1
Name
solute carrier family 8 (sodium/calcium exchanger), member 1
Synonyms
  • AI852629
  • AV344025
Biotype
protein coding gene
Automated Description
Enables ankyrin binding activity; calcium:sodium antiporter activity; and transmembrane transporter binding activity. Involved in several processes, including cellular response to caffeine; metal ion transport; and vascular associated smooth muscle contraction. Acts upstream of or within several processes, including embryonic organ development; metal ion transport; and negative regulation of protein serine/threonine kinase activity. Located in several cellular components, including T-tubule; basolateral plasma membrane; and postsynaptic density. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and nose. Human ortholog(s) of this gene implicated in hypertension. Orthologous to human SLC8A1 (solute carrier family 8 member A1).
MGI Description
PHENOTYPE: Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11878
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Slc8a1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Slc8a1 role
            Slc8a1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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