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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 with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GRIA1 (Glutamate Ionotropic Receptor AMPA Type Subunit 1) is a Protein Coding gene. Diseases associated with GRIA1 include Depression and Non-Syndromic Intellectual Disability. Among its related pathways are Neuroscience and Association Between Physico-Chemical Features and Toxicity Associated Pathways. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and extracellularly glutamate-gated ion channel activity. An important paralog of this gene is GRIA2.
AMPA receptors are members of the ionotropic class of glutamate receptors, which also includes NMDA and kainate receptors. AMPA receptors mediate fast excitatory synaptic transmission and play a role in hippocampal synaptic long-term potentiation and depression.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH05J153490 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +2.5 | 2485 | 3.8 | POLR2A RAD21 USF1 SIN3A HLF TBP EZH2 CTCF | HSALNG0045976 GRIA1 MFAP3 piR-58308-279 | |
GH05J153627 | Enhancer | 1 | FANTOM5 Ensembl ENCODE | 16.6 | +138.3 | 138286 | 5.8 | POLR2A SCRT2 CTCF RAD21 JUND NFE2 ZNF316 MAFF ZBTB48 FOS | GRIA1 piR-58308-279 HSALNG0045976 MFAP3 | |
GH05J153521 | Enhancer | 0.6 | Ensembl ENCODE | 19.4 | +32.9 | 32886 | 5.8 | NFIC NR2F2 NFIB JUND LCORL | GRIA1 HSALNG0045976 piR-58308-279 MFAP3 | |
GH05J153456 | Enhancer | 0.4 | Ensembl | 15.4 | -32.8 | -32814 | 0.8 | TEAD4 YY1 PKNOX1 | piR-32559-364 GRIA1 | |
GH05J153463 | Enhancer | 0.5 | Ensembl ENCODE | 11.1 | -25.5 | -25458 | 1.2 | EZH2 FOS | GRIA1 piR-32559-364 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001540 | amyloid-beta binding | ISS | -- |
GO:0004970 | ionotropic glutamate receptor activity | IEA | -- |
GO:0004971 | AMPA glutamate receptor activity | IBA,IDA | 20805473 |
GO:0005216 | ion channel activity | IEA | -- |
GO:0005515 | protein binding | IPI | 20805473 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport to the Golgi and subsequent modification | ||
2 | Trafficking of AMPA receptors | ||
3 | Circadian entrainment | ||
4 | Transmission across Chemical Synapses |
.62
|
|
5 | Amyotrophic lateral sclerosis (ALS) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
GO:0007165 | signal transduction | TAS | 1311100 |
GO:0007268 | chemical synaptic transmission | IEA,TAS | 1311100 |
GO:0007616 | long-term memory | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cyclothiazide | Approved | Pharma | Allosteric regulator, Positive, inhibitor | 0 | ||
Desflurane | Approved | Pharma | Target, antagonist | 209 | ||
Isoflurane | Approved, Vet_approved | Pharma | Target, antagonist, agonist | 122 | ||
Sevoflurane | Approved, Vet_approved | Pharma | Target, antagonist | 736 | ||
Piracetam | Approved, Investigational | Pharma | Allosteric regulator, Positive | Nootropic; modulates Na+-flux at AMPA receptors | 10 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
(R)-AMPA | Inactive isomer of (RS)-AMPA (Cat. No. 0169) | 83654-13-1 |
(RS)-AMPA | Selective AMPA agonist | 74341-63-2 |
L-Quisqualic acid | AMPA/group I mGlu agonist | 52809-07-1 |
Piracetam | Nootropic; modulates Na+-flux at AMPA receptors | 7491-74-9 |
Compound | Action | Cas Number |
---|---|---|
(R)-AMPA | 83654-13-1 | |
(RS)-AMPA | 74341-63-2 | |
(RS)-AMPA hydrobromide | 171259-81-7 | |
(S)-(-)-5-Fluorowillardiine | 140187-23-1 | |
(S)-AMPA | 83643-88-3 | |
(S)-CPW 399 | AMPA agonist,subtype-selective,weakly desensitizing | 389888-02-2 |
1-BCP | 34023-62-6 | |
ADX-47273 | 851881-60-2 | |
Ampalex | Ampakine and nootropic | 154235-83-3 |
Aniracetam | Nootropic drug for senile dementia | 72432-10-1 |
CFM-2 | 178616-26-7 | |
Cl-HIBO | 909400-43-7 | |
CMPDA | 380607-77-2 | |
CNQX | 115066-14-3 | |
CNQX disodium salt | 479347-85-8 | |
CP 465022 hydrochloride | AMPA receptor antagonist, non-competitive and selective | 199655-36-2 |
CX 546 | 215923-54-9 | |
Cyclothiazide | 2259-96-3 | |
Diazoxide | 364-98-7 | |
DNQX disodium salt | 1312992-24-7 | |
GYKI 47261 dihydrochloride | AMPA receptor antagonist, non-competitive and selective | 1217049-32-5 |
GYKI 52466 dihydrochloride | 102771-26-6 | |
GYKI 53655 hydrochloride | 143692-48-2 | |
IDRA 21 | 22503-72-6 | |
IEM 1460 | 121034-89-7 | |
IEM 1754 dihydrobroMide | 162831-31-4 | |
IEM 1925 dihydrobromide | 258282-23-4 | |
Ifenprodil Tartrate | NMDA receptor antagonist | 23210-58-4 |
Latrepirdine | Brain cell death inhibitor | 97657-92-6 |
L-Quisqualic acid | 52809-07-1 | |
LY451395 | Allosteric modulator | 375345-95-2 |
Naspm trihydrochloride | 1049731-36-3 | |
NBQX | 118876-58-7 | |
NBQX disodium salt | 479347-86-9 | |
NMDA (N-Methyl-D-aspartic acid) | NMDA receptor agonist | 6384-92-5 |
Noopept | Nootropic and neuroprotective agent | 157115-85-0 |
NPEC-caged-(S)-AMPA | 1257323-84-4 | |
Pep1-AGL | ||
Pep1-TGL | ||
Pep2m, myristoylated | ||
PEPA | 141286-78-4 | |
Philanthotoxin 74 | 1227301-51-0 | |
S 18986 | 175340-20-2 | |
SYM 2206 | 173952-44-8 | |
UBP 282 | 544697-47-4 | |
VU 0361737 | MGlu4 receptor allosteric modulator | 1161205-04-4 |
VU 0364439 | Positive allosteric mGluR-4 modulator | 1246086-78-1 |
VU 0364770 | 61350-00-3 | |
YM 90K hydrochloride | 154164-30-4 | |
ZK 200775 | 161605-73-8 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · | 18c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GRIA1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GRIA1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GRIA1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GRIA1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GRIA1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gria1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gria1 30 |
|
||
Chicken (Gallus gallus) |
Aves | GLUR1/A 31 |
|
OneToOne | |
GRIA1 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | GRIA1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gria1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gria1a 30 31 |
|
OneToMany | |
gria1b 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12064 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Glu-RIB 32 |
|
|
|
CG11155 32 |
|
|
|||
CG9935 32 |
|
|
|||
Glu-RI 32 |
|
|
|||
Kai-RIA 32 |
|
|
|||
CG15627 32 |
|
|
|||
Glu-RIIA 32 |
|
|
|||
CG4226 32 |
|
|
|||
Glu-RIIB 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | glr-1 32 |
|
|
|
glr-4 32 |
|
|
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709216 | Benign: not provided | 153,698,094(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
717700 | Benign: not provided | 153,490,969(+) | C/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
718744 | Benign: not provided | 153,650,492(+) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
720942 | Benign: not provided | 153,674,514(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
720943 | Benign: not provided | 153,674,541(+) | C/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2657105 | CNV | deletion | 23128226 |
esv2674452 | CNV | deletion | 23128226 |
esv2677751 | CNV | deletion | 23128226 |
esv2730932 | CNV | deletion | 23290073 |
esv2730933 | CNV | deletion | 23290073 |
esv2759387 | CNV | loss | 17122850 |
esv3307435 | CNV | mobile element insertion | 20981092 |
esv3405079 | CNV | insertion | 20981092 |
esv3411121 | CNV | insertion | 20981092 |
esv3566832 | CNV | deletion | 23714750 |
esv3566835 | CNV | deletion | 23714750 |
esv3575888 | CNV | gain | 25503493 |
esv3607227 | CNV | loss | 21293372 |
esv3607233 | CNV | loss | 21293372 |
esv5069 | CNV | loss | 18987735 |
nsv1019051 | CNV | gain | 25217958 |
nsv1109739 | CNV | deletion | 24896259 |
nsv1137040 | CNV | deletion | 24896259 |
nsv1147204 | CNV | deletion | 26484159 |
nsv476919 | CNV | novel sequence insertion | 20440878 |
nsv507300 | OTHER | sequence alteration | 20534489 |
Disorder | Aliases | PubMed IDs |
---|---|---|
depression |
|
|
non-syndromic intellectual disability |
|
|
kaufman oculocerebrofacial syndrome |
|
|
cerebral cortical dysplasia |
|
|
tarp syndrome |
|
|