Version: 8.0.0
Date: Tue Jan 28 2025
Slc2a1
Mus musculusMGI:95755
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Slc2a1

Species
Mus musculus
Symbol
Slc2a1
Name
solute carrier family 2 (facilitated glucose transporter), member 1
Synonyms
  • glucose transporter 1, erythrocyte
  • Glut-1
Biotype
protein coding gene
Automated Description
Enables D-glucose transmembrane transporter activity; dehydroascorbic acid transmembrane transporter activity; and fucose transmembrane transporter activity. Involved in D-glucose transmembrane transport and dehydroascorbic acid transport. Acts upstream of or within cellular response to glucose starvation. Located in several cellular components, including basolateral plasma membrane; nucleus; and photoreceptor inner segment. Is active in Golgi membrane. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and sensory organ. Used to study glucose transporter type 1 deficiency syndrome 1. Human ortholog(s) of this gene implicated in epilepsy (multiple); glucose transporter type 1 deficiency syndrome (multiple); myelomeningocele; obesity; and type 2 diabetes mellitus. Orthologous to human SLC2A1 (solute carrier family 2 member 1).
MGI Description
PHENOTYPE: Homozygous null embryos are small, lack visibly detectable eyes, show a diminutive rostral embryonic pole and an overall developmental delay, and die at E10-E14. Heterozygotes show spontaneous seizures, impaired motor performance, hypoglycorrhachia, microencephaly, and reduced brain glucose uptake. Mice homozygous for the p.P485L mutation die immediately after birth. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23503
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
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
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    Variant type
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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

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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

          Slc2a1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
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            Genetic Interactions

            Slc2a1 role
            Slc2a1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
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