Version: 8.0.0
Date: Tue Jan 28 2025
Spta1
Mus musculusMGI:98385
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Spta1

Species
Mus musculus
Symbol
Spta1
Name
spectrin alpha, erythrocytic 1
Synonyms
  • AF093576
  • AI451697
Biotype
protein coding gene
Automated Description
Predicted to enable actin filament binding activity. Acts upstream of or within several processes, including lymphocyte homeostasis; porphyrin-containing compound biosynthetic process; and positive regulation of T cell proliferation. Located in cuticular plate; membrane; and spectrin-associated cytoskeleton. Part of spectrin. Is expressed in liver; liver left lobe; liver right lobe; and utricle. Used to study hereditary spherocytosis type 1; hereditary spherocytosis type 3; and sickle cell anemia. Human ortholog(s) of this gene implicated in hereditary spherocytosis and hereditary spherocytosis type 3. Orthologous to human SPTA1 (spectrin alpha, erythrocytic 1).
MGI Description
PHENOTYPE: Homozygotes for spontaneous mutations exhibit microcytic, hypochromic, hemolytic anemia, jaundice, and high neonatal mortality. Heterozygotes of some alleles may exhibit a mild spherocytic transition. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11915
No data available
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
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    Based On
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
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        Download all Alleles/Variants for all genes of the species

        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
        Has Disease Annotations
        Has Phenotype Annotations
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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
            Viewer Help
            174.01M174.02M174.03M174.04M174.05M174.06M174.07M

            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

            Spta1 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
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              Genetic Interactions

              Spta1 role
              Spta1 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
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