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GRIA4 glutamate ionotropic receptor AMPA type subunit 4 [ Homo sapiens (human) ]

Gene ID: 2893, updated on 29-Mar-2020

Summary

Official Symbol
GRIA4provided by HGNC
Official Full Name
glutamate ionotropic receptor AMPA type subunit 4provided by HGNC
Primary source
HGNC:HGNC:4574
See related
Ensembl:ENSG00000152578 MIM:138246
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
GLUR4; GLURD; GluA4; GLUR4C; NEDSGA
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 of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 8.8), adrenal (RPKM 0.9) and 1 other tissue See more
Orthologs

Genomic context

See GRIA4 in Genome Data Viewer
Location:
11q22.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (105609540..105982092)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (105480800..105852819)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 2 subfamily AL member 1 pseudogene Neighboring gene uncharacterized LOC105369468 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 13 Neighboring gene RNA, U4 small nuclear 55, pseudogene Neighboring gene RNA, U6 small nuclear 277, pseudogene Neighboring gene Myb/SANT DNA binding domain containing 4 with coiled-coils Neighboring gene kelch repeat and BTB domain containing 3 Neighboring gene aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

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
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
MedGen: C4693391 OMIM: 617864 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog

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 NAS
Non-traceable Author Statement
more info
PubMed 
glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ionotropic glutamate receptor activity 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
modulation of chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of NMDA receptor activity TAS
Traceable Author Statement
more info
 
regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
extracellular vesicle HDA PubMed 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
glutamate receptor 4
Names
AMPA-selective glutamate receptor 4
gluR-4
gluR-D
glutamate receptor, ionotrophic, AMPA 4
glutamate receptor, ionotropic, AMPA 4

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_000829.4NP_000820.4  glutamate receptor 4 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). RNA editing (AGA->GGA) changes Arg765Gly.
    Source sequence(s)
    AP000641, AP000673, AP000813, AP001561
    Consensus CDS
    CCDS8333.1
    Related
    ENSP00000282499.5, ENST00000282499.10
    Conserved Domains (2) summary
    cd06388
    Location:28398
    PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
    cd13727
    Location:414795
    PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
  2. NM_001077243.2NP_001070711.2  glutamate receptor 4 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate in-frame coding exon, and uses a downstream donor splice site at the penultimate exon, compared to transcript variant 1. This results in a shorter isoform (2) with a different C-terminus compared to isoform 1. RNA editing (AGA->GGA) changes Arg765Gly.
    Source sequence(s)
    AP000813, BC045546, BC114549, BM675457, BM723114, DA077870, DB298333, DB305322, DB473702
    Consensus CDS
    CCDS41706.1
    UniProtKB/Swiss-Prot
    P48058
    UniProtKB/TrEMBL
    Q1WWK6
    Related
    ENSP00000376835.2, ENST00000393127.6
    Conserved Domains (4) summary
    cd06388
    Location:28398
    PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
    cd13727
    Location:414795
    PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:546825
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:39380
    ANF_receptor; Receptor family ligand binding region
  3. NM_001077244.2NP_001070712.1  glutamate receptor 4 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001070712.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is missing several coding exons at the 3' end, and contains a novel 3' terminal exon compared to transcript variant 1. This results in a shorter isoform (3) with a different C-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AP000673, BC045546, DB473702, DB548729
    Consensus CDS
    CCDS41707.1
    UniProtKB/Swiss-Prot
    P48058
    Related
    ENSP00000376833.2, ENST00000393125.6
    Conserved Domains (1) summary
    cd06388
    Location:28398
    PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
  4. NM_001112812.2NP_001106283.1  glutamate receptor 4 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001106283.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) is missing a 5' non-coding exon and several coding exons at the 3' end, and contains a novel 3' terminal exon compared to transcript variant 1. This results in a shorter isoform (3) with a different C-terminus compared to isoform 1. Variants 3 and 4 have different 5' UTR, but encode the same isoform.
    Source sequence(s)
    AP000673, BC015199, BC045546, DA391203, DB548729
    Consensus CDS
    CCDS41707.1
    UniProtKB/Swiss-Prot
    P48058
    Related
    ENSP00000415551.2, ENST00000428631.6
    Conserved Domains (1) summary
    cd06388
    Location:28398
    PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor

RNA

  1. NR_046356.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and contains an alternate exon compared to variant 1. The alternate exon has an in-frame stop codon that renders this transcript a candidate for nonsense-mediated mRNA decay (NMD). Therefore, this transcript is not likely to be protein-coding.
    Source sequence(s)
    AP000641, AP000673, AP000813, AP001561

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    105609540..105982092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448455.1XP_024304223.1  glutamate receptor 4 isoform X8

    Conserved Domains (1) summary
    cd06388
    Location:28398
    PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
  2. XM_006718823.2XP_006718886.1  glutamate receptor 4 isoform X2

    See identical proteins and their annotated locations for XP_006718886.1

    UniProtKB/Swiss-Prot
    P48058
    Conserved Domains (2) summary
    cd06388
    Location:28398
    PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
    cd13727
    Location:414795
    PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
  3. XM_024448454.1XP_024304222.1  glutamate receptor 4 isoform X7

    Conserved Domains (1) summary
    cd06388
    Location:28398
    PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
  4. XM_011542775.2XP_011541077.1  glutamate receptor 4 isoform X3

    See identical proteins and their annotated locations for XP_011541077.1

    Conserved Domains (4) summary
    cd06388
    Location:28398
    PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
    cd13727
    Location:414795
    PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:546825
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:39380
    ANF_receptor; Receptor family ligand binding region
  5. XM_005271518.3XP_005271575.1  glutamate receptor 4 isoform X1

    See identical proteins and their annotated locations for XP_005271575.1

    Conserved Domains (4) summary
    cd06388
    Location:28398
    PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
    cd13727
    Location:414795
    PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:546825
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:39380
    ANF_receptor; Receptor family ligand binding region
  6. XM_017017609.1XP_016873098.1  glutamate receptor 4 isoform X4

  7. XM_017017610.2XP_016873099.1  glutamate receptor 4 isoform X5

  8. XM_011542776.3XP_011541078.1  glutamate receptor 4 isoform X6

    See identical proteins and their annotated locations for XP_011541078.1

    Conserved Domains (4) summary
    cd13727
    Location:244625
    PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:376655
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:1210
    ANF_receptor; Receptor family ligand binding region
    cl10011
    Location:1228
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  9. XM_011542777.3XP_011541079.1  glutamate receptor 4 isoform X6

    See identical proteins and their annotated locations for XP_011541079.1

    Conserved Domains (4) summary
    cd13727
    Location:244625
    PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:376655
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:1210
    ANF_receptor; Receptor family ligand binding region
    cl10011
    Location:1228
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  10. XM_017017611.2XP_016873100.1  glutamate receptor 4 isoform X6

    Conserved Domains (4) summary
    cd13727
    Location:244625
    PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:376655
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:1210
    ANF_receptor; Receptor family ligand binding region
    cl10011
    Location:1228
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

RNA

  1. XR_001747841.1 RNA Sequence

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