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    GRIA3 glutamate ionotropic receptor AMPA type subunit 3 [ Homo sapiens (human) ]

    Gene ID: 2892, updated on 5-May-2024

    Summary

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    Official Symbol
    GRIA3provided by HGNC
    Official Full Name
    glutamate ionotropic receptor AMPA type subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:4573
    See related
    Ensembl:ENSG00000125675 MIM:305915; AllianceGenome:HGNC:4573
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GLUR3; GLURC; GluA3; MRX94; MRXSW; GLUR-C; iGluR3; GLUR-K3
    Summary
    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 composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 19.9), adrenal (RPKM 3.0) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xq25
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (123184278..123490915)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (121492985..121799656)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (122318131..122624766)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U3 Neighboring gene MPRA-validated peak7421 silencer Neighboring gene mitochondrial ribosome recycling factor pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 4549 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:122364489-122365428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:122416639-122417140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:122451941-122452481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:122525440-122525940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29908 Neighboring gene cytochrome c oxidase subunit NDUFA4-like Neighboring gene H3 histone pseudogene 47

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human. Peng SX, et al. Mol Psychiatry, 2022 Oct. PMID 35697757
    2. X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3. Sun JH, et al. PLoS Genet, 2021 Jun. PMID 34161333, Free PMC Article
    3. The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus. Piard J, et al. Mov Disord, 2020 Jul. PMID 32369665, Free PMC Article
    4. Genetic variation of GRIA3 gene is associated with vulnerability to methamphetamine dependence and its associated psychosis. Iamjan SA, et al. J Psychopharmacol, 2018 Mar. PMID 29338492
    5. Aggregation Limits Surface Expression of Homomeric GluA3 Receptors. Coleman SK, et al. J Biol Chem, 2016 Apr 15. PMID 26912664, Free PMC Article

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.
      Title: Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.
    2. Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
      Title: Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
    3. Acetylation of H3K27 activated lncRNA NEAT1 and promoted hepatic lipid accumulation in non-alcoholic fatty liver disease via regulating miR-212-5p/GRIA3.
      Title: Acetylation of H3K27 activated lncRNA NEAT1 and promoted hepatic lipid accumulation in non-alcoholic fatty liver disease via regulating miR-212-5p/GRIA3.
    4. X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
      Title: X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
    5. The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.
      Title: The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.
    6. TRAILR1 (rs20576) and GRIA3 (rs12557782) are not associated with interferon-beta response in multiple sclerosis patients.
      Title: TRAILR1 (rs20576) and GRIA3 (rs12557782) are not associated with interferon-β response in multiple sclerosis patients.
    7. MicroRNA-330-3p promotes brain metastasis and epithelial-mesenchymal transition via GRIA3 in non-small cell lung cancer.
      Title: MicroRNA-330-3p promotes brain metastasis and epithelial-mesenchymal transition via GRIA3 in non-small cell lung cancer.
    8. Genetic variability in GRIA3 may interact with a functional BDNF polymorphism.
      Title: Genetic variation of GRIA3 gene is associated with vulnerability to methamphetamine dependence and its associated psychosis.
    9. Frontotemporal dementia patients manifest significant reduction of the GluR3 subunit in the postsynaptic fraction due to autoantibodies along with increased levels of neuronal Tau.
      Title: Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.
    10. Results suggest a role for GluA3 channel activity in the regulation of sleep behavior in both mice and humans.
      Title: A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Syndromic X-linked intellectual disability 94
    MedGen: C2678051 OMIM: 300699 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2024-03-28)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2024-03-28)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat The gene expression of glutamate receptor 3 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables AMPA glutamate receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables AMPA glutamate receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables amyloid-beta binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables glutamate-gated calcium ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables glutamate-gated receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glutamate receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in ionotropic glutamate receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in long-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in modulation of chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein heterotetramerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of AMPA glutamate receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of AMPA glutamate receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in postsynaptic density membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    glutamate receptor 3
    Names
    AMPA receptor subunit GluA3
    AMPA-selective glutamate receptor 3
    dJ1171F9.1
    gluR-3
    glutamate receptor C
    glutamate receptor subunit 3
    glutamate receptor, ionotrophic, AMPA 3
    glutamate receptor, ionotropic, AMPA 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009377.3 RefSeqGene

      Range
      5002..311639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000828.5 → NP_000819.4  glutamate receptor 3 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate internal coding exon compared to transcript variant 1, and encodes an isoform (2, also known as flop isoform) that is the same length, but with a few amino acid differences from isoform 1. RNA editing (AGA->GGA) changes Arg775Gly.
      Source sequence(s)
      AL035426, AL356213, AL590139, Z82899, Z83848
      Consensus CDS
      CCDS14604.1
      UniProtKB/Swiss-Prot
      D3DTF1, P42263, Q4VXD5, Q4VXD6, Q9HDA0, Q9HDA1, Q9HDA2, Q9P0H1
      UniProtKB/TrEMBL
      Q9P0H2
      Related
      ENSP00000481554.1, ENST00000622768.5
      Conserved Domains (2) summary
      cd13715
      Location:422 → 805
      PBP2_iGluR_AMPA; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtypes of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
      cd06387
      Location:35 → 409
      PBP1_iGluR_AMPA_GluR3; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the GluR3 subunit of the AMPA receptor

    2. NM_001256743.2 → NP_001243672.1  glutamate receptor 3 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001243672.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons and includes alternate 3' exons compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC032004, DA191279
      Consensus CDS
      CCDS76017.1
      UniProtKB/TrEMBL
      Q5XKG2
      Related
      ENSP00000478758.1, ENST00000611689.4
      Conserved Domains (1) summary
      cl10011
      Location:35 → 89
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

    3. NM_007325.5 → NP_015564.5  glutamate receptor 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1 (also known as flip isoform). RNA editing (AGA->GGA) changes Arg775Gly.
      Source sequence(s)
      AL035426, AL356213, AL590139, Z82899, Z83848
      Consensus CDS
      CCDS14605.1
      UniProtKB/TrEMBL
      Q9P0H2
      Related
      ENSP00000478489.1, ENST00000620443.2
      Conserved Domains (2) summary
      cd13715
      Location:422 → 805
      PBP2_iGluR_AMPA; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtypes of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
      cd06387
      Location:35 → 409
      PBP1_iGluR_AMPA_GluR3; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the GluR3 subunit of the AMPA receptor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      123184278..123490915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      121492985..121799656
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_181894.1: Suppressed sequence

      Description
      NM_181894.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P42263.2 GenPept UniProtKB/Swiss-Prot:P42263

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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