Version: 8.0.0
Date: Tue Jan 28 2025
GRIA1
Homo sapiensHGNC:4571
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

GRIA1

Species
Homo sapiens
Symbol
GRIA1
Name
glutamate ionotropic receptor AMPA type subunit 1
Synonyms
  • AMPA 1
  • AMPA receptor subunit GluA1
Biotype
protein coding gene
Automated Description
Enables AMPA glutamate receptor activity and ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential. Predicted to be involved in glutamatergic synaptic transmission and modulation of chemical synaptic transmission. Predicted to act upstream of or within cellular response to ammonium ion; chemical synaptic transmission; and long-term synaptic depression. Located in dendritic spine membrane; postsynaptic membrane; and recycling endosome. Part of AMPA glutamate receptor complex. Implicated in autosomal dominant intellectual developmental disorder; autosomal recessive intellectual developmental disorder 76; and epilepsy. Biomarker of heroin dependence.
RGD Description
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR18966
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
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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      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
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          GRIA1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            GRIA1 role
            GRIA1 genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
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            Phenotype or trait
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