U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 2897, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000830.6NP_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:35430
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
      cl21456
      Location:446815
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    2. NM_001320616.2NP_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:35430
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
      cl21456
      Location:446815
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    3. NM_001320618.2NP_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:438707
      Lig_chan; Ligand-gated ion channel
      pfam01094
      Location:40340
      ANF_receptor; Receptor family ligand binding region
      cl10011
      Location:38359
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
      cl21456
      Location:385676
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    4. NM_001320621.2NP_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:420689
      Lig_chan; Ligand-gated ion channel
      pfam01094
      Location:38254
      ANF_receptor; Receptor family ligand binding region
      cl10011
      Location:40273
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
      cl21456
      Location:289658
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    5. NM_001320630.2NP_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:53396
      ANF_receptor; Receptor family ligand binding region
      cl10011
      Location:35403
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    6. NM_001330993.2NP_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:35415
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
      cl21456
      Location:431800
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    7. NM_001330994.2NP_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:35430
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
      cl21456
      Location:446815
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    8. NM_001393424.1NP_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:38416
      PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
      cl21456
      Location:431800
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    9. NM_001393425.1NP_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:38431
      PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
      cl21456
      Location:446815
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    10. NM_001393426.1NP_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:38375
      PBP1_iGluR_Kainate; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the kainate receptors
      cl21456
      Location:390759
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    11. NM_001410706.1NP_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_175611.3NP_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:35415
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
      cl21456
      Location:431800
      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_047440744.1XP_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_054324437.1XP_054180412.1  glutamate receptor ionotropic, kainate 1 isoform X1