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Aliases for GRIA1 Gene

Aliases for GRIA1 Gene

  • Glutamate Ionotropic Receptor AMPA Type Subunit 1 2 3 5
  • Glutamate Receptor, Ionotropic, AMPA 1 2 3
  • AMPA-Selective Glutamate Receptor 1 3 4
  • GluR-K1 3 4
  • GluR-1 3 4
  • GluR-A 3 4
  • GLUR1 3 4
  • GLUH1 3 4
  • GluA1 3 4
  • Glutamate Receptor Ionotropic, AMPA 1 4
  • Glutamate Receptor 1 3
  • AMPA 1 3
  • GLURA 3
  • HBGR1 3

External Ids for GRIA1 Gene

Previous HGNC Symbols for GRIA1 Gene

  • GLUR1

Previous GeneCards Identifiers for GRIA1 Gene

  • GC05P152945
  • GC05P152898
  • GC05P152850
  • GC05P148010

Summaries for GRIA1 Gene

Entrez Gene Summary for GRIA1 Gene

  • 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]

GeneCards Summary for GRIA1 Gene

GRIA1 (Glutamate Ionotropic Receptor AMPA Type Subunit 1) is a Protein Coding gene. Diseases associated with GRIA1 include Status Epilepticus and Fragile X Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Protein-protein interactions at synapses. GO annotations related to this gene include PDZ domain binding and extracellular-glutamate-gated ion channel activity. An important paralog of this gene is GRIA2.

UniProtKB/Swiss-Prot for GRIA1 Gene

  • Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate.

Tocris Summary for GRIA1 Gene

  • 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.

Gene Wiki entry for GRIA1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRIA1 Gene

Genomics for GRIA1 Gene

Regulatory Elements for GRIA1 Gene

Enhancers for GRIA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G153627 1.3 FANTOM5 Ensembl ENCODE 6.4 +139.4 139378 3.3 CTCF MXI1 JUN SIN3A MAX RAD21 GATA2 ZBTB48 SCRT2 SMC3 GRIA1 RN7SL177P
GH05G153521 0.4 ENCODE 18.5 +31.5 31541 0.2 JUND EZH2 GRIA1 RN7SL177P
GH05G153618 1 Ensembl ENCODE 6.6 +130.0 130028 1.7 ESRRA ATF1 TAL1 JUN ZNF175 FOSL1 ZNF766 GATA2 NR2F6 FOS GRIA1 RN7SL177P
GH05G153522 0.5 ENCODE 11.1 +33.9 33899 2.1 NFIC NFIB YY1 NR2F2 GRIA1 RN7SL177P
GH05G153463 0.4 ENCODE 11.1 -25.5 -25459 1.2 MAFK EZH2 GRIA1 GC05P153458
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GRIA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GRIA1 Gene

Chromosome:
5
Start:
153,489,615 bp from pter
End:
153,813,873 bp from pter
Size:
324,259 bases
Orientation:
Plus strand

Genomic View for GRIA1 Gene

Genes around GRIA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRIA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRIA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIA1 Gene

Proteins for GRIA1 Gene

  • Protein details for GRIA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42261-GRIA1_HUMAN
    Recommended name:
    Glutamate receptor 1
    Protein Accession:
    P42261
    Secondary Accessions:
    • B7Z2S0
    • B7Z2W8
    • B7Z3F6
    • B7Z9G9
    • D3DQI4
    • E7ESV8
    • Q2NKM6

    Protein attributes for GRIA1 Gene

    Size:
    906 amino acids
    Molecular mass:
    101506 Da
    Quaternary structure:
    • Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers. Interacts with DLG1 via its C-terminus. Found in a complex with GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8. Interacts with HIP1, RASGRF2, SYNDIG1 and LRFN1. Interacts with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes. Interacts (via PDZ-binding motif) with SHANK3 (via PDZ domain) (PubMed:20805473, PubMed:23739980). Interacts with PRKG2 (By similarity).
    Miscellaneous:
    • The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds AMPA (quisqualate) > glutamate > kainate.

    Alternative splice isoforms for GRIA1 Gene

neXtProt entry for GRIA1 Gene

Post-translational modifications for GRIA1 Gene

  • Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-603 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-829 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity).
  • Phosphorylated at Ser-645. Phosphorylated at Ser-710 by PKC. Phosphorylated at Ser-849 by PKC, PKA and CAMK2. Phosphorylated at Ser-863 by PKC, PKA and PRKG2.
  • Glycosylation at isoforms=3, 5, 6, 263, isoforms=3, 4, 5, 6, 2249, posLast=257257, isoforms=3, 4, 5, 6, 2363, posLast=401401, and posLast=406406
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GRIA1 Gene

Domains & Families for GRIA1 Gene

Gene Families for GRIA1 Gene

Graphical View of Domain Structure for InterPro Entry

P42261

UniProtKB/Swiss-Prot:

GRIA1_HUMAN :
  • The M4 transmembrane segment mediates tetramerization and is required for cell surface expression.
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA1 subfamily.
Domain:
  • The M4 transmembrane segment mediates tetramerization and is required for cell surface expression.
Family:
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA1 subfamily.
genes like me logo Genes that share domains with GRIA1: view

Function for GRIA1 Gene

Molecular function for GRIA1 Gene

GENATLAS Biochemistry:
glutamate receptor,subunit 1,ionotropic,AMPA (amino-3-hydroxy 5 methyl-isoxazole-propionic) class,with flip and flop isoforms,mediating the fast component of excitatory post synaptic currents in the central nervous system,interacting with and signaling through the protein-kinase LYN
UniProtKB/Swiss-Prot Function:
Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate.

Gene Ontology (GO) - Molecular Function for GRIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA --
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0004971 AMPA glutamate receptor activity IDA 20805473
GO:0005216 ion channel activity IEA --
GO:0005231 excitatory extracellular ligand-gated ion channel activity TAS --
genes like me logo Genes that share ontologies with GRIA1: view
genes like me logo Genes that share phenotypes with GRIA1: view

Animal Models for GRIA1 Gene

MGI Knock Outs for GRIA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for GRIA1

CRISPR Products

miRNA for GRIA1 Gene

miRTarBase miRNAs that target GRIA1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GRIA1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GRIA1 Gene

Localization for GRIA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRIA1 Gene

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, dendrite. Cell projection, dendritic spine. Note=Interaction with CACNG2, CNIH2 and CNIH3 promotes cell surface expression. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRIA1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
endosome 5
extracellular 2
cytoskeleton 2
nucleus 2
golgi apparatus 2
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GRIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0008021 synaptic vesicle IEA --
genes like me logo Genes that share ontologies with GRIA1: view

Pathways & Interactions for GRIA1 Gene

genes like me logo Genes that share pathways with GRIA1: view

Gene Ontology (GO) - Biological Process for GRIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
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 TAS 1311100
genes like me logo Genes that share ontologies with GRIA1: view

No data available for SIGNOR curated interactions for GRIA1 Gene

Drugs & Compounds for GRIA1 Gene

(111) Drugs for GRIA1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclothiazide Approved Pharma Positive, Allosteric regulator, inhibitor 0
Perampanel Approved Pharma Target, antagonist AMPA-type glutamate receptor antagonist 0
Desflurane Approved Pharma antagonist, Target 150
Enflurane Approved, Vet_approved Pharma Target, antagonist 2
Isoflurane Approved, Vet_approved Pharma agonist, Target, antagonist 171

(8) Additional Compounds for GRIA1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dnqx
2379-57-9

(5) Tocris Compounds for GRIA1 Gene

Compound Action Cas Number
CNQX disodium salt Potent AMPA/kainate antagonist. More water soluble form of CNQX (Cat. No. 0190) 479347-85-8
DNQX Selective non-NMDA antagonist 2379-57-9
DNQX disodium salt Selective non-NMDA antagonist. Water-soluble salt of DNQX (Cat. No. 0189) 1312992-24-7
NBQX Potent AMPA antagonist. More selective than CNQX (Cat. No. 0190) 118876-58-7
NBQX disodium salt Potent AMPA antagonist. More water soluble form of NBQX (Cat. No. 0373) 479347-86-9

(61) ApexBio Compounds for GRIA1 Gene

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
LY450108 AMPA receptor potentiator 376594-67-1
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
pep2-AVKI 1315378-69-8
pep2-EVKI 1315378-67-6
pep2m 243843-42-7
Pep2m, myristoylated
pep2-SVKE 1315378-76-7
pep2-SVKI 328944-75-8
pep4c 243843-43-8
PEPA 141286-78-4
Perampanel AMPA-type glutamate receptor antagonist 380917-97-5
PF 4778574 1219633-99-4
Philanthotoxin 74 1227301-51-0
S 18986 175340-20-2
SYM 2206 173952-44-8
Talampanel(LY300164) AMPA-receptor antagonist 161832-65-1
Tezampanel AMPA and receptor antagonist 154652-83-2
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
genes like me logo Genes that share compounds with GRIA1: view

Drug Products

Transcripts for GRIA1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GRIA1

Alternative Splicing Database (ASD) splice patterns (SP) for GRIA1 Gene

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: - -

Relevant External Links for GRIA1 Gene

GeneLoc Exon Structure for
GRIA1
ECgene alternative splicing isoforms for
GRIA1

Expression for GRIA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GRIA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRIA1 Gene

This gene is overexpressed in Brain - Hippocampus (x7.0), Brain - Cerebellum (x5.6), Brain - Anterior cingulate cortex (BA24) (x5.1), and Brain - Amygdala (x4.8).

Protein differential expression in normal tissues from HIPED for GRIA1 Gene

This gene is overexpressed in Frontal cortex (28.3), Brain (27.3), and Fetal Brain (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GRIA1 Gene



Protein tissue co-expression partners for GRIA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GRIA1 Gene:

GRIA1

SOURCE GeneReport for Unigene cluster for GRIA1 Gene:

Hs.519693

mRNA Expression by UniProt/SwissProt for GRIA1 Gene:

P42261-GRIA1_HUMAN
Tissue specificity: Widely expressed in brain.

Evidence on tissue expression from TISSUES for GRIA1 Gene

  • Nervous system(5)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with GRIA1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GRIA1 Gene

Orthologs for GRIA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRIA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRIA1 34 35
  • 98.38 (n)
oppossum
(Monodelphis domestica)
Mammalia GRIA1 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRIA1 34 35
  • 94.22 (n)
cow
(Bos Taurus)
Mammalia GRIA1 34 35
  • 93.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GRIA1 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gria1 34 16 35
  • 90.03 (n)
rat
(Rattus norvegicus)
Mammalia Gria1 34
  • 88.78 (n)
chicken
(Gallus gallus)
Aves GLUR1/A 35
  • 91 (a)
OneToOne
GRIA1 34
  • 84.04 (n)
lizard
(Anolis carolinensis)
Reptilia GRIA1 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gria1 34
  • 77.12 (n)
zebrafish
(Danio rerio)
Actinopterygii gria1a 34 35
  • 72.71 (n)
gria1b 35
  • 72 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12064 34
fruit fly
(Drosophila melanogaster)
Insecta Glu-RIB 36
  • 66 (a)
CG11155 36
  • 50 (a)
CG9935 36
  • 40 (a)
Glu-RI 36
  • 40 (a)
Kai-RIA 36
  • 34 (a)
CG15627 36
  • 33 (a)
Glu-RIIA 36
  • 29 (a)
CG4226 36
  • 28 (a)
Glu-RIIB 36
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea glr-1 36
  • 46 (a)
glr-4 36
  • 31 (a)
Species where no ortholog for GRIA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GRIA1 Gene

ENSEMBL:
Gene Tree for GRIA1 (if available)
TreeFam:
Gene Tree for GRIA1 (if available)

Paralogs for GRIA1 Gene

Paralogs for GRIA1 Gene

(9) SIMAP similar genes for GRIA1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GRIA1: view

Variants for GRIA1 Gene

Sequence variations from dbSNP and Humsavar for GRIA1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs587776937 Uncertain significance 153,764,516(+) TGGCC(A/G)CCTTC nc-transcript-variant, reference, missense
rs3841128 Benign 153,492,228(+) GCCTC(-/C)TCCAG intron-variant, reference, frameshift-variant
rs1000003670 -- 153,489,958(+) CCACC(A/G)TTTCA intron-variant, upstream-variant-2KB
rs1000013448 -- 153,705,516(+) GCTGA(C/G)CATCC intron-variant
rs1000024777 -- 153,748,999(+) AGACT(A/G)TAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GRIA1 Gene

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

Variation tolerance for GRIA1 Gene

Residual Variation Intolerance Score: 2.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.96; 74.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRIA1 Gene

Human Gene Mutation Database (HGMD)
GRIA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRIA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRIA1 Gene

Disorders for GRIA1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GRIA1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
status epilepticus
  • gcse
fragile x syndrome
  • fragile x mental retardation syndrome
limbic encephalitis
schizophrenia
  • schizophrenia 12
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search GRIA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GRIA1

Genetic Association Database (GAD)
GRIA1
Human Genome Epidemiology (HuGE) Navigator
GRIA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRIA1
genes like me logo Genes that share disorders with GRIA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRIA1 Gene

Publications for GRIA1 Gene

  1. Polymorphisms in the GRIA1 gene region in psychotic bipolar disorder. (PMID: 18484081) Kerner B. … Freimer N.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 22 46 64
  2. Glutamate AMPA receptor subunit 1 gene (GRIA1) and DSM-IV-TR schizophrenia: a pilot case-control association study in an Italian sample. (PMID: 16526023) Magri C. … Barlati S. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006) 3 22 46 64
  3. Molecular cloning and chromosomal localization of one of the human glutamate receptor genes. (PMID: 1652753) Puckett C. … Hood L.E. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4 64
  4. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat B.E. … Tseng Z.H. (BMC Cardiovasc Disord 2011) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for GRIA1 Gene

  • Addgene plasmids for GRIA1

Sources for GRIA1 Gene

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