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Aliases for GRIK1 Gene

Aliases for GRIK1 Gene

  • Glutamate Ionotropic Receptor Kainate Type Subunit 1 2 3 5
  • Excitatory Amino Acid Receptor 3 3 4
  • Glutamate Receptor 5 3 4
  • GluR-5 3 4
  • GLUR5 3 4
  • GluK1 3 4
  • EAA3 3 4
  • Glutamate Receptor, Ionotropic, Kainate 1 2
  • Glutamate Receptor Ionotropic, Kainate 1 3
  • EEA3 3
  • GLR5 3

External Ids for GRIK1 Gene

Previous HGNC Symbols for GRIK1 Gene

  • GLUR5

Previous GeneCards Identifiers for GRIK1 Gene

  • GC21M027486
  • GC21M029829
  • GC21M029831
  • GC21M030909
  • GC21M016317

Summaries for GRIK1 Gene

Entrez Gene Summary for GRIK1 Gene

  • Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GRIK1 Gene

GRIK1 (Glutamate Ionotropic Receptor Kainate Type Subunit 1) is a Protein Coding gene. Diseases associated with GRIK1 include Monosomy 21 and Juvenile Absence Epilepsy. Among its related pathways are CREB Pathway and Circadian entrainment. GO annotations related to this gene include ionotropic glutamate receptor activity and kainate selective glutamate receptor activity. An important paralog of this gene is GRIK2.

UniProtKB/Swiss-Prot for GRIK1 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. May be involved in the transmission of light information from the retina to the hypothalamus.

Tocris Summary for GRIK1 Gene

  • Kainate receptors are members of the ionotropic class of glutamate receptors, which also includes NMDA and AMPA receptors. Kainate receptors have been identified both pre- and post-synaptically. They contribute to excitatory postsynaptic currents in many regions of the CNS.

Gene Wiki entry for GRIK1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRIK1 Gene

Genomics for GRIK1 Gene

Regulatory Elements for GRIK1 Gene

Enhancers for GRIK1 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
GH21G029904 0.6 ENCODE 11.3 +35.0 34995 0.2 CTCF L3MBTL2 ZNF175 ELF1 CEBPG FOSL1 NFIC ID3 ZNF584 MGA GRIK1 GC21P029844
GH21G029089 1.4 Ensembl ENCODE dbSUPER 4.4 +848.4 848448 3.6 HDGF FOXA2 NFXL1 YBX1 RAD21 YY1 ZNF366 ZSCAN5C FOS BCLAF1 RWDD2B CCT8 N6AMT1 GRIK1-AS1 LTN1 GRIK1 GC21P029079 GC21M029128
GH21G029870 0.4 ENCODE 10.6 +69.1 69055 0.2 RBBP5 TRIM28 GRIK1 GC21P029844
GH21G029552 0.4 FANTOM5 1.3 +387.2 387215 0.3 MAFK BACH1 GRIK1-AS2 GRIK1 GC21M029550 LOC105372768
GH21G029595 0.3 FANTOM5 1.7 +344.8 344819 0.3 GRIK1 LOC105372768 ENSG00000273464
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GRIK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GRIK1 Gene

Chromosome:
21
Start:
29,536,933 bp from pter
End:
29,940,033 bp from pter
Size:
403,101 bases
Orientation:
Minus strand

Genomic View for GRIK1 Gene

Genes around GRIK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRIK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRIK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIK1 Gene

Proteins for GRIK1 Gene

  • Protein details for GRIK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P39086-GRIK1_HUMAN
    Recommended name:
    Glutamate receptor ionotropic, kainate 1
    Protein Accession:
    P39086
    Secondary Accessions:
    • Q13001
    • Q86SU9

    Protein attributes for GRIK1 Gene

    Size:
    918 amino acids
    Molecular mass:
    103981 Da
    Quaternary structure:
    • Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers (Probable). The unedited version (Q) assembles into a functional kainate-gated homomeric channel, whereas the edited version (R) is unable to produce channel activity when expressed alone. Both edited and unedited versions can form functional channels with GRIK4 and GRIK5. Interacts with KLHL17 (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 domoate > kainate > L-glutamate = quisqualate > CNQX = DNQX > AMPA > dihydrokainate > NMDA.

    Three dimensional structures from OCA and Proteopedia for GRIK1 Gene

    Alternative splice isoforms for GRIK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRIK1 Gene

Post-translational modifications for GRIK1 Gene

  • Glycosylation at posLast=6868, posLast=7474, isoforms=2276, isoforms=2379, posLast=428428, isoforms=2439, isoforms=2446, and posLast=561561
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GRIK1 Gene

Domains & Families for GRIK1 Gene

Gene Families for GRIK1 Gene

Graphical View of Domain Structure for InterPro Entry

P39086

UniProtKB/Swiss-Prot:

GRIK1_HUMAN :
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK1 subfamily.
Family:
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK1 subfamily.
genes like me logo Genes that share domains with GRIK1: view

Function for GRIK1 Gene

Molecular function for GRIK1 Gene

GENATLAS Biochemistry:
glutamate receptor K1,ionotropic,kainate (2-carboxy-4-(1-methylethenyl)-3-pyrrolidinacetic) class
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. May be involved in the transmission of light information from the retina to the hypothalamus.

Gene Ontology (GO) - Molecular Function for GRIK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005234 extracellular-glutamate-gated ion channel activity IEA --
GO:0015276 ligand-gated ion channel activity TAS --
GO:0015277 kainate selective glutamate receptor activity IDA 9335499
genes like me logo Genes that share ontologies with GRIK1: view
genes like me logo Genes that share phenotypes with GRIK1: view

Animal Models for GRIK1 Gene

MGI Knock Outs for GRIK1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GRIK1 Gene

Localization for GRIK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRIK1 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.

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 GRIK1 gene
Compartment Confidence
plasma membrane 5
nucleus 2
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GRIK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 8260617
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GRIK1: view

Pathways & Interactions for GRIK1 Gene

genes like me logo Genes that share pathways with GRIK1: view

Gene Ontology (GO) - Biological Process for GRIK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS,IEA 8260617
GO:0006811 ion transport IEA --
GO:0007215 glutamate receptor signaling pathway TAS 8260617
GO:0007268 chemical synaptic transmission TAS 10580501
GO:0007399 nervous system development TAS 8260617
genes like me logo Genes that share ontologies with GRIK1: view

No data available for SIGNOR curated interactions for GRIK1 Gene

Drugs & Compounds for GRIK1 Gene

(42) Drugs for GRIK1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Topiramate Approved Pharma antagonist, Target GluR5 receptor antagonist,anticonvulsant, GluR5 antagonist; inhibits carbonic anhydrase (CA) II and IV 249
Domoic acid Experimental Pharma Full agonist, Agonist Potent, selective kainate agonist 0
ACET Pharma Antagonist Potent antagonist of GluR5-containing kainate receptors 0
ATPA Pharma Full agonist, Agonist 0
kainate Pharma Full agonist, Agonist 0

(2) Additional Compounds for GRIK1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GRIK1 Gene

Compound Action Cas Number
ACET Potent antagonist of GluR5-containing kainate receptors 936095-50-0
CNQX Potent AMPA/kainate antagonist 115066-14-3
Domoic acid Potent, selective kainate agonist 14277-97-5
Kainic acid Potent excitant and neurotoxin 487-79-6
Topiramate GluR5 antagonist; inhibits carbonic anhydrase (CA) II and IV 97240-79-4

(14) ApexBio Compounds for GRIK1 Gene

Compound Action Cas Number
(S)-(-)-5-Iodowillardiine 140187-25-3
ACET 936095-50-0
ATPA 140158-50-5
Domoic acid 14277-97-5
Evans Blue tetrasodium salt potent inhibitor of AMPA and kainate receptor-mediated currents (GluRl and GIuR6) 314-13-6
Kainic acid kainate receptor agonist, selective 487-79-6
NS 3763 70553-45-6
PDZ1 Domain inhibitor peptide 1315378-73-4
SYM 2081 31137-74-3
Topiramate GluR5 receptor antagonist,anticonvulsant 97240-79-4
UBP 296 745055-86-1
UBP 301 569371-10-4
UBP 302 745055-91-8
UBP 310 902464-46-4
genes like me logo Genes that share compounds with GRIK1: view

Drug Products

Transcripts for GRIK1 Gene

Unigene Clusters for GRIK1 Gene

Glutamate receptor, ionotropic, kainate 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GRIK1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: -
SP2: - - -
SP3:
SP4: -

Relevant External Links for GRIK1 Gene

GeneLoc Exon Structure for
GRIK1
ECgene alternative splicing isoforms for
GRIK1

Expression for GRIK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GRIK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRIK1 Gene

This gene is overexpressed in Brain - Hypothalamus (x6.9), Brain - Hippocampus (x5.4), Brain - Anterior cingulate cortex (BA24) (x5.2), Brain - Amygdala (x4.8), and Brain - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for GRIK1 Gene

This gene is overexpressed in CD4 Tcells (47.6) and Monocytes (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GRIK1 Gene



Protein tissue co-expression partners for GRIK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GRIK1 Gene:

GRIK1

SOURCE GeneReport for Unigene cluster for GRIK1 Gene:

Hs.664641

mRNA Expression by UniProt/SwissProt for GRIK1 Gene:

P39086-GRIK1_HUMAN
Tissue specificity: Most abundant in the cerebellum and the suprachiasmatic nuclei (SCN) of the hypothalamus.

Evidence on tissue expression from TISSUES for GRIK1 Gene

  • Nervous system(4.8)
  • Eye(4.4)
genes like me logo Genes that share expression patterns with GRIK1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GRIK1 Gene

Orthologs for GRIK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRIK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRIK1 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia GRIK1 34 35
  • 92.63 (n)
cow
(Bos Taurus)
Mammalia GRIK1 34 35
  • 92.23 (n)
mouse
(Mus musculus)
Mammalia Grik1 34 16 35
  • 90.71 (n)
rat
(Rattus norvegicus)
Mammalia Grik1 34
  • 90.56 (n)
oppossum
(Monodelphis domestica)
Mammalia GRIK1 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRIK1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRIK1 34 35
  • 82.63 (n)
lizard
(Anolis carolinensis)
Reptilia GRIK1 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grik1 34
  • 79.68 (n)
zebrafish
(Danio rerio)
Actinopterygii GRIK1 (1 of 2) 35
  • 83 (a)
OneToMany
grik1a 35
  • 80 (a)
OneToMany
LOC561540 34
  • 76.56 (n)
wufv36b03 34
fruit fly
(Drosophila melanogaster)
Insecta CG11155 36 34
  • 54.52 (n)
CG3822 36 35
  • 48 (a)
CG9935 36
  • 43 (a)
Kai-RIA 36
  • 38 (a)
CG5621 36 35
  • 37 (a)
clumsy 36 35
  • 37 (a)
KaiRIA 35
  • 35 (a)
ManyToMany
GluRIIE 35
  • 34 (a)
ManyToMany
CG15627 36
  • 32 (a)
Glu-RIIA 36
  • 32 (a)
GluRIIA 35
  • 31 (a)
ManyToMany
CG4226 36
  • 28 (a)
Glu-RIIB 36
  • 28 (a)
GluRIIB 35
  • 27 (a)
ManyToMany
GluRIIC 35
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea glr-5 34
  • 48.08 (n)
glr-4 36
  • 34 (a)
Species where no ortholog for GRIK1 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 GRIK1 Gene

ENSEMBL:
Gene Tree for GRIK1 (if available)
TreeFam:
Gene Tree for GRIK1 (if available)

Paralogs for GRIK1 Gene

Paralogs for GRIK1 Gene

genes like me logo Genes that share paralogs with GRIK1: view

Variants for GRIK1 Gene

Sequence variations from dbSNP and Humsavar for GRIK1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000007076 -- 29,654,044(+) GAATC(C/T)AGGTC intron-variant
rs1000011187 -- 29,855,474(+) GCAGC(A/C)TATAA intron-variant
rs1000013828 -- 29,835,400(+) CATAA(C/G)TGGTC intron-variant
rs1000036462 -- 29,575,303(+) AGACA(C/T)TGGAG intron-variant
rs1000039591 -- 29,921,552(+) GGTTC(C/T)CTTCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GRIK1 Gene

Variant ID Type Subtype PubMed ID
dgv808e214 CNV gain 21293372
esv1004829 CNV insertion 20482838
esv1010713 CNV deletion 20482838
esv2540796 CNV insertion 19546169
esv2660792 CNV deletion 23128226
esv2667733 CNV deletion 23128226
esv2671877 CNV deletion 23128226
esv2676813 CNV deletion 23128226
esv27684 CNV loss 19812545
esv28655 CNV loss 19812545
esv3304857 CNV mobile element insertion 20981092
esv3325613 CNV insertion 20981092
esv3557616 CNV deletion 23714750
esv3646802 CNV loss 21293372
esv3646805 CNV loss 21293372
esv3646806 CNV loss 21293372
esv3646807 CNV loss 21293372
esv3646809 CNV loss 21293372
nsv1114283 CNV deletion 24896259
nsv459235 CNV gain 19166990
nsv470898 CNV gain 18288195
nsv478662 CNV novel sequence insertion 20440878
nsv528222 CNV loss 19592680
nsv587353 CNV gain 21841781
nsv834073 CNV gain 17160897
nsv834074 CNV loss 17160897

Variation tolerance for GRIK1 Gene

Residual Variation Intolerance Score: 10.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 33.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRIK1 Gene

Human Gene Mutation Database (HGMD)
GRIK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRIK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRIK1 Gene

Disorders for GRIK1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GRIK1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
monosomy 21
  • 21q deletion syndrome
juvenile absence epilepsy
  • childhood absence epilepsy
temporal lobe epilepsy
  • epilepsy, temporal lobe
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
childhood absence epilepsy
  • absence seizure
- elite association - COSMIC cancer census association via MalaCards
Search GRIK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GRIK1

Genetic Association Database (GAD)
GRIK1
Human Genome Epidemiology (HuGE) Navigator
GRIK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRIK1
genes like me logo Genes that share disorders with GRIK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRIK1 Gene

Publications for GRIK1 Gene

  1. Association study of polymorphisms in the GluR5 kainate receptor gene (GRIK1) with schizophrenia. (PMID: 11702055) Shibata H. … Fukumaki Y. (Psychiatr. Genet. 2001) 3 4 22 46 64
  2. A preliminary pharmacogenetic investigation of adverse events from topiramate in heavy drinkers. (PMID: 19331489) Ray L.A. … Monti P.M. (Exp Clin Psychopharmacol 2009) 3 22 46 64
  3. Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. (PMID: 9259378) Sander T. … Janz D. (Am. J. Med. Genet. 1997) 3 22 46 64
  4. cDNA cloning and functional properties of human glutamate receptor EAA3 (GluR5) in homomeric and heteromeric configuration. (PMID: 8589992) Korczak B. … Kamboj R.K. (Recept. Channels 1995) 3 4 22 64
  5. Expression and novel subunit isoforms of glutamate receptor genes GluR5 and GluR6. (PMID: 8260617) Gregor P. … Uhl G.R. (NeuroReport 1993) 3 4 22 64

Products for GRIK1 Gene

Sources for GRIK1 Gene

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