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GRIK1 glutamate ionotropic receptor kainate type subunit 1 [ Homo sapiens (human) ]

Gene ID: 2897, updated on 3-Apr-2024

Summary

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Official Symbol
GRIK1provided by HGNC
Official Full Name
glutamate ionotropic receptor kainate type subunit 1provided by HGNC
Primary source
HGNC:HGNC:4579
See related
Ensembl:ENSG00000171189 MIM:138245; AllianceGenome:HGNC:4579
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EAA3; EEA3; GLR5; GLUR5; GluK1; gluR-5
Summary
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]
Expression
Biased expression in adrenal (RPKM 3.8), brain (RPKM 1.9) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
21q21.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (29536933..29939996, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (27902775..28305893, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (30909254..31312314, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372770 Neighboring gene BACH1 intronic transcript 3 Neighboring gene uncharacterized LOC124905006 Neighboring gene uncharacterized LOC105372768 Neighboring gene MPRA-validated peak4397 silencer Neighboring gene GRIK1 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18349 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:31022541-31023740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18350 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:31068852-31069038 Neighboring gene GRIK1 antisense RNA 1 Neighboring gene MPRA-validated peak4398 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:31300943-31301519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:31311600-31312101 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:31387153-31387691 Neighboring gene Sharpr-MPRA regulatory region 8261 Neighboring gene claudin 17 Neighboring gene long intergenic non-protein coding RNA 307

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Kainate receptor subunit 1 (GRIK1) risk variants and GRIK1 deficiency were detected in the Indian ADHD probands. Chatterjee M, et al. Sci Rep, 2022 Nov 2. PMID 36323684, Free PMC Article
  2. In vivo hippocampal cornu ammonis 1-3 glutamatergic abnormalities are associated with temporal lobe epilepsy surgery outcomes. Lam J, et al. Epilepsia, 2021 Jul. PMID 34060082
  3. Self-efficacy mediates the effects of topiramate and GRIK1 genotype on drinking. Kranzler HR, et al. Addict Biol, 2016 Mar. PMID 25496338, Free PMC Article
  4. Topiramate's reduction of body mass index in heavy drinkers: lack of moderation by a GRIK1 polymorphism. Kranzler HR, et al. Exp Clin Psychopharmacol, 2014 Oct. PMID 24978347, Free PMC Article
  5. GRIK1 genotype moderates topiramate's effects on daily drinking level, expectations of alcohol's positive effects and desire to drink. Kranzler HR, et al. Int J Neuropsychopharmacol, 2014 Oct. PMID 24786948, Free PMC Article

See all (68) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Kainate receptor subunit 1 (GRIK1) risk variants and GRIK1 deficiency were detected in the Indian ADHD probands.
    Title: Kainate receptor subunit 1 (GRIK1) risk variants and GRIK1 deficiency were detected in the Indian ADHD probands.
  2. In vivo hippocampal cornu ammonis 1-3 glutamatergic abnormalities are associated with temporal lobe epilepsy surgery outcomes.
    Title: In vivo hippocampal cornu ammonis 1-3 glutamatergic abnormalities are associated with temporal lobe epilepsy surgery outcomes.
  3. DRD2 A2/A1, DRD3 Ser9Gly, DbetaH -1021C>T, OPRM1 A118G and GRIK1 rs2832407C>A are not associated with alcoholism alone or in interaction.
    Title: Association study of DRD2 A2/A1, DRD3 Ser9Gly, DβH -1021C>T, OPRM1 A118G and GRIK1 rs2832407C>A polymorphisms with alcohol dependence.
  4. The findings reported here suggest that, in participants with the GRIK1 rs2832407*CC genotype, topiramate treatment enhances self-efficacy and reduces heavy drinking.
    Title: Self-efficacy mediates the effects of topiramate and GRIK1 genotype on drinking.
  5. Findings indicate that SNPs in the GRIK1 gene is associated with altered cue-induced brain activation that is related to craving for alcohol and relapse risk.
    Title: The effects of single nucleotide polymorphisms in glutamatergic neurotransmission genes on neural response to alcohol cues and craving.
  6. Results suggested that the extracellular N-terminal region including the two CUB domains was largely responsible for the distinct regulatory effects of Neto1 and Neto2 on the desensitization properties of GluK1 homomeric receptors
    Title: The auxiliary subunits Neto1 and Neto2 have distinct, subunit-dependent effects at recombinant GluK1- and GluK2-containing kainate receptors.
  7. In the present study, we have shown that gene-gene interaction of components of different systems associated with nicotine reinforcing effects, such as OPRM1 and GRIK1, rather than one gene polymorphism, is associated with smoking behavior.
    Title: Gene-gene interaction of μ-opioid receptor and GluR5 kainate receptor subunit is associated with smoking behavior in a Greek population: presence of a dose allele effect.
  8. This found that, among rs2832407*C of GRIK1 homozygotes, topiramate treatment produced the greatest reductions in the expected positive effects of drinking and desire to drink during the treatment period.
    Title: GRIK1 genotype moderates topiramate's effects on daily drinking level, expectations of alcohol's positive effects and desire to drink.
  9. These results suggest that the effect of topiramate on drinking behavior, in which the GluK1-containing kainate receptor appears to play a key role, can be dissociated from its effect on weight.
    Title: Topiramate's reduction of body mass index in heavy drinkers: lack of moderation by a GRIK1 polymorphism.
  10. Topiramate treatment for alcohol dependence was significantly more effective in rs2832407 C-allele homozygotes.
    Title: Topiramate treatment for heavy drinkers: moderation by a GRIK1 polymorphism.
Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
EBI GWAS Catalog
A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies.
EBI GWAS Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
EBI GWAS Catalog
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
EBI GWAS Catalog
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog
GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables kainate selective glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables kainate selective glutamate receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in central nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
involved_in glutamate receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in ionotropic glutamate receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in modulation of chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of synaptic transmission, glutamatergic TAS
Traceable Author Statement
more info
 PubMed 
involved_in synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
part_of kainate selective glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
glutamate receptor ionotropic, kainate 1
Names
GluK1(del_e2)
excitatory amino acid receptor 3
glutamate receptor 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_000830.6 → NP_000821.1  glutamate receptor ionotropic, kainate 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000821.1

    Status: REVIEWED

    Source sequence(s)
    AP000236, AP000237, AP000238, AP000239
    Consensus CDS
    CCDS42913.1
    UniProtKB/Swiss-Prot
    P39086, Q13001, Q86SU9
    UniProtKB/TrEMBL
    H7BYG7
    Related
    ENSP00000382791.1, ENST00000399907.6
    Conserved Domains (2) summary
    cl10011
    Location:35 → 430
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:446 → 815
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

  2. NM_001320616.2 → NP_001307545.1  glutamate receptor ionotropic, kainate 1 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AA404271, AJ249208, AK296404, BC111793
    Consensus CDS
    CCDS82658.1
    UniProtKB/TrEMBL
    B7Z3V7, E9PD61
    Related
    ENSP00000382797.1, ENST00000399913.5
    Conserved Domains (2) summary
    cl10011
    Location:35 → 430
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:446 → 815
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

  3. NM_001320618.2 → NP_001307547.1  glutamate receptor ionotropic, kainate 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AA404271, AJ249208, AK294353, AK296404, DC341703
    UniProtKB/TrEMBL
    B7Z256
    Conserved Domains (4) summary
    pfam00060
    Location:438 → 707
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:40 → 340
    ANF_receptor; Receptor family ligand binding region
    cl10011
    Location:38 → 359
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:385 → 676
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

  4. NM_001320621.2 → NP_001307550.1  glutamate receptor ionotropic, kainate 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AA404271, AK296404, BC111793, DC341703
    UniProtKB/TrEMBL
    B7Z3V7
    Conserved Domains (4) summary
    pfam00060
    Location:420 → 689
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:38 → 254
    ANF_receptor; Receptor family ligand binding region
    cl10011
    Location:40 → 273
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:289 → 658
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

  5. NM_001320630.2 → NP_001307559.1  glutamate receptor ionotropic, kainate 1 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    BC028238
    Related
    ENST00000472429.1
    Conserved Domains (2) summary
    pfam01094
    Location:53 → 396
    ANF_receptor; Receptor family ligand binding region
    cl10011
    Location:35 → 403
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

  6. NM_001330993.2 → NP_001317922.1  glutamate receptor ionotropic, kainate 1 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AA404271, AP000236, AP000237, AP000238, AP000239
    Consensus CDS
    CCDS82656.1
    UniProtKB/TrEMBL
    B7Z3V7, E7EPY9
    Related
    ENSP00000382798.1, ENST00000399914.5
    Conserved Domains (2) summary
    cl10011
    Location:35 → 415
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:431 → 800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

  7. NM_001330994.2 → NP_001317923.1  glutamate receptor ionotropic, kainate 1 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AA404271, AP000236, AP000237, AP000238, AP000239
    Consensus CDS
    CCDS82659.1
    UniProtKB/TrEMBL
    B7Z3V7, E7ENK3
    Related
    ENSP00000327687.4, ENST00000327783.9
    Conserved Domains (2) summary
    cl10011
    Location:35 → 430
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:446 → 815
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

  8. NM_001393424.1 → NP_001380353.1  glutamate receptor ionotropic, kainate 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AP000236, AP000237, AP000238, AP000239
    UniProtKB/TrEMBL
    H7BYG7
    Conserved Domains (2) summary
    cd06382
    Location:38 → 416
    PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
    cl21456
    Location:431 → 800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

  9. NM_001393425.1 → NP_001380354.1  glutamate receptor ionotropic, kainate 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AP000236, AP000237, AP000238, AP000239
    UniProtKB/TrEMBL
    H7BYG7
    Conserved Domains (2) summary
    cd06382
    Location:38 → 431
    PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
    cl21456
    Location:446 → 815
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

  10. NM_001393426.1 → NP_001380355.1  glutamate receptor ionotropic, kainate 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AP000236, AP000237, AP000238, AP000239
    UniProtKB/TrEMBL
    H7BYG7
    Conserved Domains (2) summary
    cd06382
    Location:38 → 375
    PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
    cl21456
    Location:390 → 759
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

  11. NM_001410706.1 → NP_001397635.1  glutamate receptor ionotropic, kainate 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AP000236, AP000237, AP000238, AP000239
    Consensus CDS
    CCDS93084.1
    UniProtKB/TrEMBL
    E7EPZ0
    Related
    ENSP00000382793.1, ENST00000399909.5

  12. NM_175611.3 → NP_783300.1  glutamate receptor ionotropic, kainate 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_783300.1

    Status: REVIEWED

    Source sequence(s)
    AA404271, AJ249208, AP000236, BC028238, U16125
    Consensus CDS
    CCDS33530.1
    UniProtKB/TrEMBL
    B7Z3V7
    Related
    ENSP00000373777.3, ENST00000389125.7
    Conserved Domains (2) summary
    cl10011
    Location:35 → 415
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl21456
    Location:431 → 800
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    29536933..29939996 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440744.1 → XP_047296700.1  glutamate receptor ionotropic, kainate 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    27902775..28305893 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324437.1 → XP_054180412.1  glutamate receptor ionotropic, kainate 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P39086.1 GenPept UniProtKB/Swiss-Prot:P39086

Gene LinkOut

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