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

Gene ID: 2892, updated on 2-Mar-2021

Summary

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
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; 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

See GRIA3 in Genome Data Viewer
Location:
Xq25
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (123184278..123490915)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (122318131..122624766)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L3 pseudogene 12 Neighboring gene mitochondrial ribosome recycling factor pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 4549 Neighboring gene cytochrome c oxidase subunit NDUFA4 pseudogene Neighboring gene H3 histone pseudogene 47

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, X-linked, syndromic, wu type
MedGen: C2678051 OMIM: 300699 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2019-10-23)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated 2019-10-23)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AMPA glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AMPA glutamate receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
amyloid-beta binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
glutamate receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
ionotropic glutamate receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of NMDA receptor activity TAS
Traceable Author Statement
more info
 
regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
AMPA glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AMPA glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
parallel fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
glutamate receptor 3
Names
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_009377.2 RefSeqGene

    Range
    5001..311673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000828.5NP_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
    Related
    ENSP00000481554.1, ENST00000622768.4
  2. NM_001256743.2NP_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:3589
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  3. NM_007325.5NP_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
    Related
    ENSP00000478489.1, ENST00000620443.2
    Conserved Domains (2) summary
    cd06387
    Location:35406
    PBP1_iGluR_AMPA_GluR3; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR3 subunit of the AMPA receptor
    cd13715
    Location:422805
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    123184278..123490915
    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.
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