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Aliases for GRIK1 Gene

Aliases for GRIK1 Gene

  • Glutamate Ionotropic Receptor Kainate Type Subunit 1 2 3
  • Glutamate Receptor, Ionotropic, Kainate 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
  • 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 Transmission across Chemical Synapses and CREB Pathway. GO annotations related to this gene include ionotropic glutamate receptor activity and kainate selective glutamate receptor activity. An important paralog of this gene is GRID1.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for GRIK1 Gene at MOPED

Post-translational modifications for GRIK1 Gene

  • Glycosylation at Asn 68, Asn 74, Asn 276, Asn 379, Asn 428, Asn 439, Asn 446, and Asn 561
  • 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: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

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
Jensen Localization Image for GRIK1 Gene COMPARTMENTS Subcellular localization image for GRIK1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
extracellular 2
mitochondrion 2
nucleus 2
endosome 1

Gene Ontology (GO) - Cellular Components for GRIK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane 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 8260617
GO:0007417 central nervous system development TAS 10580501
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

(31) Drugs for GRIK1 Gene - From: DrugBank, PharmGKB, 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 242
Domoic acid Experimental Pharma Full agonist, Agonist Potent, selective kainate agonist 0
ATPA Pharma Full agonist, Agonist Selective, potent GluR5 agonist 0
kainate Pharma Full agonist, Agonist 0
LY339434 Pharma Full agonist, Agonist 0

(5) Additional Compounds for GRIK1 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-(-)-5-Iodowillardiine
140187-25-3
Kainic acid
487-79-6
SYM 2081
31137-74-3

(5) Tocris Compounds for GRIK1 Gene

Compound Action Cas Number
(S)-(-)-5-Iodowillardiine Highly potent, subtype-selective kainate agonist 140187-25-3
ATPA Selective, potent GluR5 agonist 140158-50-5
Domoic acid Potent, selective kainate agonist 14277-97-5
Kainic acid Potent excitant and neurotoxin 487-79-6
SYM 2081 Highly selective kainate agonist 31137-74-3
genes like me logo Genes that share compounds with GRIK1: view

Transcripts for GRIK1 Gene

Unigene Clusters for GRIK1 Gene

Glutamate receptor, ionotropic, kainate 1:
Representative Sequences:

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 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



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.
genes like me logo Genes that share expression patterns with GRIK1: view

Protein tissue co-expression partners for GRIK1 Gene

- Elite partner

Primer Products

Orthologs for GRIK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRIK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GRIK1 35
  • 92.23 (n)
  • 96.74 (a)
GRIK1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRIK1 35
  • 92.63 (n)
  • 96.56 (a)
GRIK1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grik1 35
  • 90.71 (n)
  • 97.78 (a)
Grik1 16
Grik1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GRIK1 35
  • 99.64 (n)
  • 100 (a)
GRIK1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grik1 35
  • 90.56 (n)
  • 97.12 (a)
oppossum
(Monodelphis domestica)
Mammalia GRIK1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRIK1 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRIK1 35
  • 82.63 (n)
  • 91.16 (a)
GRIK1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRIK1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grik1 35
  • 79.68 (n)
  • 92.26 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC561540 35
  • 76.56 (n)
  • 89.11 (a)
wufv36b03 35
GRIK1 (1 of 2) 36
  • 83 (a)
OneToMany
grik1a 36
  • 80 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11155 37
  • 56 (a)
CG15627 37
  • 32 (a)
CG3822 37
  • 48 (a)
CG4226 37
  • 28 (a)
CG5621 37
  • 37 (a)
CG9935 37
  • 43 (a)
clumsy 37
  • 37 (a)
Glu-RIIA 37
  • 32 (a)
Glu-RIIB 37
  • 28 (a)
Kai-RIA 37
  • 38 (a)
CG11155 35
  • 54.52 (n)
  • 49.38 (a)
CG3822 36
  • 49 (a)
ManyToMany
CG5621 36
  • 32 (a)
ManyToMany
clumsy 36
  • 32 (a)
ManyToMany
GluRIIA 36
  • 31 (a)
ManyToMany
GluRIIB 36
  • 27 (a)
ManyToMany
GluRIIC 36
  • 26 (a)
ManyToMany
GluRIIE 36
  • 34 (a)
ManyToMany
KaiRIA 36
  • 35 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea glr-4 37
  • 34 (a)
glr-5 35
  • 48.08 (n)
  • 37.34 (a)
Species with no ortholog for GRIK1:
  • 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
VAR_000304 -
VAR_012041 -
VAR_012042 -
VAR_012043 -
rs143252117 - 29,642,929(+) CAATG(A/G)CCACC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv834073 CNV Gain 17160897
nsv913674 CNV Loss 21882294
esv1004829 CNV Insertion 20482838
nsv528222 CNV Loss 19592680
esv2676813 CNV Deletion 23128226
esv28655 CNV Loss 19812545
esv1010713 CNV Deletion 20482838
nsv913675 CNV Gain 21882294
esv2671877 CNV Deletion 23128226
nsv834074 CNV Loss 17160897
esv2667733 CNV Deletion 23128226
esv2540796 CNV Insertion 19546169
esv269135 CNV Insertion 20981092
nsv470898 CNV Gain 18288195
nsv459235 CNV Gain 19166990
esv2660792 CNV Deletion 23128226
esv27684 CNV Loss 19812545

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

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

Disorders for GRIK1 Gene

MalaCards: The human disease database

(18) 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
epidural neoplasm
  • extradural tumor
depersonalization disorder
  • neurotic derealization
- 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 23 48 67
  2. Aberrant glutamate receptor 5 expression in temporal lobe epilepsy lesions. (PMID: 19941835) Li J.M. … Zhou D. (Brain Res. 2010) 3 23
  3. 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 23
  4. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for GRIK1 Gene

Sources for GRIK1 Gene

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