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GRIA1 Gene(Protein Coding)

Glutamate Ionotropic Receptor AMPA Type Subunit 1

GCID:
GC05P153467
GIFtS:
55
Genes Participants
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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 Depression and Status Epilepticus. Among its related pathways are Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity and Amyotrophic lateral sclerosis (ALS). 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.

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

Additional gene information 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

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  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for GRIA1 Gene

Promoters and enhancers for GRIA1 Gene
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 1.2 EPDnew Ensembl ENCODE 650.7 +0.9 886 0.6 MXI1 USF1 POLR2A SIN3A GRIA1 RN7SL177P
GH05J153627 Enhancer 1.1 FANTOM5 Ensembl ENCODE 6.4 +139.4 139377 3.3 SCRT1 CTCF MXI1 RXRA JUN MAX NR2F2 JUND POLR2A ZBTB48 GRIA1 RN7SL177P
GH05J153521 Enhancer 0.3 ENCODE 18.5 +31.5 31541 0.2 JUND GRIA1 RN7SL177P
GH05J153522 Enhancer 0.5 ENCODE 11.1 +33.9 33898 2.1 LCORL NFIC NFIB NR2F2 GRIA1 RN7SL177P
GH05J153618 Enhancer 0.8 Ensembl ENCODE 6.6 +130.0 130027 1.7 ZNF639 ATF1 JUN TAL1 E2F5 DPF2 ATF2 ZNF395 FOSL1 JUND GRIA1 RN7SL177P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRIA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GRIA1 gene promoter:
  • FOXF2
  • FOXO4
  • FOXJ2 (long isoform)
  • FOXJ2
  • NF-kappaB2
  • MZF-1
  • NF-kappaB
  • NF-kappaB1
  • AML1a
  • aMEF-2

Genomic Locations for GRIA1 Gene

Genomic Locations for GRIA1 Gene
chr5:153,489,615-153,813,873
(GRCh38/hg38)
Size:
324,259 bases
Orientation:
Plus strand
chr5:152,869,175-153,193,429
(GRCh37/hg19)
Size:
324,255 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 Structure • Gene Density

RefSeq DNA sequence for GRIA1 Gene

Proteins for GRIA1 Gene

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  • 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 (By similarity). Tetramers may be formed by the dimerization of dimers (PubMed:23739980). Interacts with HIP1 and RASGRF2. Interacts with SYNDIG1 and GRIA2 (By similarity). Interacts with DLG1 (via C-terminus). Interacts with LRFN1. Interacts with PRKG2 (By similarity). Interacts with CNIH2 and CACNG2 (PubMed:20805473). Interacts with CACNG5. Interacts (via C-terminus) with PDLIM4 (via LIM domain); this interaction as well as the interaction of PDLIM4 with alpha-actinin is required for their colocalization in early endosomes. Found in a complex with GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8 (By similarity). 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) (By similarity). Interacts with CACNG3; associates GRIA1 with the adaptor protein complex 4 (AP-4) to target GRIA1 to the somatodendritic compartment of neurons (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

    UniProtKB/Swiss-Prot:

neXtProt entry for GRIA1 Gene

Protein Expression for GRIA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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, 4, 5, 6, 2406, Asn401, isoforms=3, 4, 5, 6, 2363, Asn257, Asn249, and isoforms=3, 5, 6, 263
  • Modification sites at PhosphoSitePlus

Other Protein References for GRIA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GRIA1 Gene

Domains & Families for GRIA1 Gene

Gene Families for GRIA1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for GRIA1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRIA1 Gene

GenScript: Design optimal peptide antigens:

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

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Molecular function for GRIA1 Gene

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.
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

Phenotypes From GWAS Catalog for GRIA1 Gene

Gene Ontology (GO) - Molecular Function for GRIA1 Gene

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 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRIA1

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; Multi-pass membrane protein. Cell projection, dendrite. Cell projection, dendritic spine. Early endosome membrane; Multi-pass membrane protein. Recycling endosome membrane; Multi-pass membrane protein. Note=Interaction with CACNG2, CNIH2 and CNIH3 promotes cell surface expression. Colocalizes with PDLIM4 in early endosomes. Displays a somatodendritic localization and is excluded from axons in neurons (By similarity). {ECO:0000250 UniProtKB:P19490, ECO:0000250 UniProtKB:P23818}.

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:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with GRIA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRIA1 Gene

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: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 --
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

Products:

  1. Drug

(113) Drugs for GRIA1 Gene - From: DrugBank, PharmGKB, 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 161
Enflurane Approved, Investigational, Vet_approved Pharma Target, antagonist 2
Isoflurane Approved, Vet_approved Pharma agonist, Target, antagonist 178

(7) Additional Compounds for GRIA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for GRIA1 Gene

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

Transcripts for GRIA1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for GRIA1 Gene

(9) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(90) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GRIA1 Gene

Glutamate receptor, ionotropic, AMPA 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRIA1

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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for GRIA1 Gene
mRNA expression by GTEx for GRIA1 GenemRNA expression by BioGPS 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 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

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 33
  • 98.38 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia GRIA1 34
  • 95 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia GRIA1 34 33
  • 94.22 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia GRIA1 34 33
  • 93.41 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia GRIA1 34
  • 93 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gria1 16 34 33
  • 90.03 (n)
rat
(Rattus norvegicus)
 Mammalia Gria1 33
  • 88.78 (n)
chicken
(Gallus gallus)
 Aves GLUR1/A 34
  • 91 (a)
 OneToOne
GRIA1 33
  • 84.04 (n)
lizard
(Anolis carolinensis)
 Reptilia GRIA1 34
  • 87 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia gria1 33
  • 77.12 (n)
zebrafish
(Danio rerio)
 Actinopterygii gria1a 34 33
  • 72.71 (n)
 OneToMany
gria1b 34
  • 72 (a)
 OneToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.12064 33
fruit fly
(Drosophila melanogaster)
 Insecta Glu-RIB 35
  • 66 (a)
CG11155 35
  • 50 (a)
Glu-RI 35
  • 40 (a)
CG9935 35
  • 40 (a)
Kai-RIA 35
  • 34 (a)
CG15627 35
  • 33 (a)
Glu-RIIA 35
  • 29 (a)
CG4226 35
  • 28 (a)
Glu-RIIB 35
  • 27 (a)
worm
(Caenorhabditis elegans)
 Secernentea glr-1 35
  • 46 (a)
glr-4 35
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GRIA1: view image

Paralogs for GRIA1 Gene

Paralogs for GRIA1 Gene

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

  • GRIA1_HUMAN
  • C5IJI6_HUMAN
genes like me logo Genes that share paralogs with GRIA1: view

Variants for GRIA1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for GRIA1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs587776937 uncertain-significance, Variant of unknown significance 153,764,516(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs3841128 benign, not specified 153,492,229(+) C/CC coding_sequence_variant, frameshift, intron_variant
rs1000003670 -- 153,489,958(+) G/A/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000013448 -- 153,705,516(+) C/G intron_variant
rs1000024777 -- 153,748,999(+) G/A 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)

Additional Variant Information for GRIA1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GRIA1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
depression
  • major depressive disorder
status epilepticus
  • grand mal status
limbic encephalitis
fragile x syndrome
  • fxs
rett syndrome
  • rtt
- elite association - COSMIC cancer census association via MalaCards
Search GRIA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GRIA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 NB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 44 58
  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 (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006) 3 22 44 58
  3. Molecular cloning and chromosomal localization of one of the human glutamate receptor genes. (PMID: 1652753) Puckett C … Hood L (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4 58
  4. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat BE … Tseng ZH (BMC cardiovascular disorders 2011) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for GRIA1 Gene

  • Addgene plasmids for GRIA1

Sources for GRIA1 Gene

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