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

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; 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

Location:: Xq25

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (123184278..123490915)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (121492985..121799656)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (122318131..122624766)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Title: Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
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.
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.
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.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (38)

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)

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

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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

DXS7332 (e-PCR)
- UniSTS:35074

GRIA3 (e-PCR)
- UniSTS:506642

DXS8280 (e-PCR)
- UniSTS:78360

DXS7913 (e-PCR)
- UniSTS:99353

DXS9909 (e-PCR), detects polymorphism
- UniSTS:38961

WI-21212 (e-PCR)
- UniSTS:16948

AL032579 (e-PCR)
- UniSTS:93256

DXS1212 (e-PCR), detects polymorphism
- UniSTS:72794

DXS7869 (e-PCR)
- UniSTS:99162

AL032602 (e-PCR)
- UniSTS:93281

AL032603 (e-PCR)
- UniSTS:93284

DXS7335 (e-PCR)
- UniSTS:49254

RH123177 (e-PCR)
- UniSTS:135558

AL008897 (e-PCR)
- UniSTS:65419

DXS7334 (e-PCR)
- UniSTS:17807

DXS7329 (e-PCR)
- UniSTS:46239

DXS7912 (e-PCR)
- UniSTS:99747

DXS7322 (e-PCR)
- UniSTS:78500

DXS7921 (e-PCR)
- UniSTS:99244

DXS1353 (e-PCR)
- UniSTS:99503

AL008898 (e-PCR)
- UniSTS:19894

AFM280vf5 (e-PCR), detects polymorphism
- UniSTS:90830

RH80476 (e-PCR)
- UniSTS:90832

SHGC-57682 (e-PCR)
- UniSTS:79347

G65742 (e-PCR)
- UniSTS:166902

AL008928 (e-PCR)
- UniSTS:18680

RH91805 (e-PCR)
- UniSTS:86267

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

NG_009377.3 RefSeqGene

Range

5002..311639

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

123184278..123490915

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

121492985..121799656

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.