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

Gene ID: 2897, updated on 7-Sep-2023

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
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Genomic context

See GRIK1 in Genome Data Viewer
Location:
21q21.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (29536933..29939996, complement)
RS_2023_03 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 GRIK1 antisense RNA 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:31022541-31023740 Neighboring gene GRIK1 antisense RNA 1 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
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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/Swiss-Prot
    P39086
    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/Swiss-Prot
    P39086
    UniProtKB/TrEMBL
    B7Z256, B7Z3V7
    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, H7BYG7
    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/Swiss-Prot
    P39086
    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_2023_03

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