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

    Gene ID: 2897, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See GRIK1 in Genome Data Viewer
    Location:
    21q21.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (29536933..29939996, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (27902775..28305893, complement)
    RS_2024_09 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 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. Channel-opening kinetic mechanism of wild-type GluK1 kainate receptors and a C-terminal mutant. Han Y, et al. Biochemistry, 2012 Jan 24. PMID 22191429, Free PMC Article
    3. GluK1 inhibits calcium dependent and independent transmitter release at associational/commissural synapses in area CA3 of the hippocampus. Salmen B, et al. Hippocampus, 2012 Jan. PMID 20848601
    4. Association study of GRIK1 gene polymorphisms in schizophrenia: case-control and family-based studies. Hirata Y, et al. Hum Psychopharmacol, 2012 Jul. PMID 22730074
    5. Aberrant glutamate receptor 5 expression in temporal lobe epilepsy lesions. Li JM, et al. Brain Res, 2010 Jan 22. PMID 19941835

    See all (71) 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 glutamate-gated calcium ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables glutamate-gated receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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