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

Gene ID: 2892, updated on 7-Apr-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
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Genomic context

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See GRIA3 in Genome Data Viewer
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
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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 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 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 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 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 TAS
Traceable Author Statement
more info
  
is_active_in postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
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

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