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FLASH GENE
Symbol GRIA1 contributors: mct/npt/pgu - updated : 27-09-2022
HGNC name glutamate receptor, ionotropic, AMPA 1
HGNC id 4571
Corresponding disease
IDLSE intellectual disability (ID), language delay, poor sleep, endocrine abnormalities
Location 5q33.2      Physical location : 152.870.083 - 153.193.428
Synonym name
  • AMPA-selective glutamate receptor 1
  • AMPA 1
  • Synonym symbol(s) GLUR1, GLUH1, GLURA, HBGR1, GluR-K1, MGC133252, AMPAR, GLUA1, GluA1, MRD67, MRT76
    DNA
    TYPE functioning gene
    STRUCTURE 324.25 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - SPARC /D5S1699 - GLRA1 - D5S2077 - D5S2909 - D5S2910 - D5S119 - D5S673 - D5S1532 - D5S2910 - D5S209 - D5S410 /D5S670 - GRIA1 - D5S1431 - D5S2012 - D5S497 - D5S1698 - D5S2911 - D5S662 - D5S1507 - D5S487 - qter
    RNA
    TRANSCRIPTS type messenger
    text with flip and flop isoforms
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 5747 101.4 906 - 2021 34274350
    16 - 5584 101.4 906 - 2021 34274350
    15 - 5344 - 826 - 2021 34274350
    17 - 5641 - 811 - 2021 34274350
    16 - 5422 - 916 - 2021 34274350
    16 - 5422 - 916 - 2021 34274350
    16 - 5336 - 837 - 2021 34274350
    16 - 5416 - 850 - 2021 34274350
    17 - 6031 - 915 - 2021 34274350
    16 - 5946 - 837 - 2021 34274350
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex  
     spinal cordanterior horn  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage glioblastoma cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ligand binding site in the N terminal region
  • four transmembrane segments (4TM), one of which forming the wall of the channel, and a large intracellular loop
  • C-terminal domain of GRIA1 controls AMPA receptor function and trafficking during synaptic plasticity in the central nervous system
  • conjugated ubiquitinated
    HOMOLOGY
    interspecies homolog to murine Gria1
    Homologene
    FAMILY
  • glutamate-gated ion channel family
  • CATEGORY protooncogene , signaling , receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • ligand gated ion (Cl) channel
  • glutamate receptor, subunit 1, ionotropic, AMPA (amino-3-hydroxy5 methyl-isoxazole-propionic) class
  • promotes dendrite growth in a non-cell-autonomous manner
  • mediating the fast component of excitatory post synaptic currents in the central nervous system
  • play an important role in synaptic plasticity and contribute to cell death under excitotoxic conditions
  • with GRIA2, GRIA3, GRIN2B, mediate fast synaptic transmission in the brain
  • spatial working memory (SWM) requires GRIA1 action in cortical circuits but is only partially dependent on GRIA1-containing AMPA receptors in hippocampus
  • important roles for FXR2 and GRIA1 in neuronal development, and functional convergence between fragile X proteins in this neuronal development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with and signaling through the protein-kinase LYN
  • EPB41L1 is required for activity-dependent GRIA1 insertion, and disrupting EPB41L1-dependent GRIA1 insertion decreased surface expression of GRIA1 and the expression of long-term potentiation
  • direct interaction between GRIA1, AND FRRS1L
  • NMDA receptor activation regulates synaptic plasticity by causing endocytosis of AMPA receptor GRIA1
  • CREB1 is necessary for the specific maintenance of the GRIA1 subunit and for its trafficking within the post-synaptic densities (PSD) during the occurrence of learning
  • FMR1 and FXR2 additively promote the maturation of new neurons by regulating a common target, the AMPA receptor GRIA1, but via distinct mechanisms
  • CPT1C binds GRIA1 and GRIA2 and that the three proteins have the same expression profile during neuronal maturation
  • interactions of PRPF8 and GRIA1 in testis and brain cortex
  • WWC1 is a novel CCDC141-binding protein that retains GRIA1 in the cytosol after internalization
  • cell & other
    REGULATION
    Other E3 ubiquitin ligase NEDD4 responsible for GRIA1 ubiquitination, a modification that regulates multiple aspects of GRIA1 molecular biology including trafficking, localization and stability
    S-nitrosylation of GRIA1 enhances S831 phosphorylation, facilitates the associated AMPA receptor conductance increase, and results in endocytosis by increasing receptor binding to the AP2 protein of the endocytotic machinery
    ASSOCIATED DISORDERS
    corresponding disease(s) IDLSE
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in cortex in FRAXA
    Susceptibility
  • to psychotic bipolar disorder
  • to diabetic retinopathy
  • Variant & Polymorphism other
  • variant increasing the risk of psychotic bipolar disorder
  • GRIA1 (rs2195450) genes assolcitaed with diabetic retinopathy
  • Candidate gene candidate gene for susceptibility to schizophrenia
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion studies in mice where knockout models of the GluA1-encoding gene Gria1 have been established and report normal development and life expectancy in Gria1-/- animals (
  • GluA1-knockout mice (Gria1-/-) displayed various circadian abnormalities, including misaligned, fragmented, and more variable rest-activity patterns