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GRIK4 glutamate ionotropic receptor kainate type subunit 4 [ Homo sapiens (human) ]

Gene ID: 2900, updated on 12-Aug-2018

Summary

Official Symbol
GRIK4provided by HGNC
Official Full Name
glutamate ionotropic receptor kainate type subunit 4provided by HGNC
Primary source
HGNC:HGNC:4582
See related
Ensembl:ENSG00000149403 MIM:600282; Vega:OTTHUMG00000048255
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
KA1; EAA1; GRIK; GluK4
Summary
This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Expression
Biased expression in brain (RPKM 2.8), ovary (RPKM 0.9) and 4 other tissues See more
Orthologs

Genomic context

See GRIK4 in Genome Data Viewer
Location:
11q23.3
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (120511746..120988805)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (120382465..120859514)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 136 Neighboring gene Rho guanine nucleotide exchange factor 12 Neighboring gene uncharacterized LOC107984400 Neighboring gene elongin C pseudogene 22 Neighboring gene uncharacterized LOC105369532 Neighboring gene uncharacterized LOC101929227 Neighboring gene uncharacterized LOC101929208 Neighboring gene high mobility group box 1 pseudogene 42 Neighboring gene HNF4 motif-containing MPRA enhancer 256 Neighboring gene tubulin folding cofactor E like Neighboring gene tectorin alpha

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variation and performance on standardized cognitive tests.
NHGRI GWA Catalog
Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kainate selective glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kainate selective glutamate receptor activity TAS
Traceable Author Statement
more info
PubMed 
ligand-gated ion channel activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
glutamate receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
ionotropic glutamate receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
modulation of chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
kainate selective glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kainate selective glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
glutamate receptor ionotropic, kainate 4
Names
excitatory amino acid receptor 1
glutamate receptor KA1
glutamate receptor, ionotropic, kainate 4

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_042194.1 RefSeqGene

    Range
    5001..482060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1012

mRNA and Protein(s)

  1. NM_001282470.2NP_001269399.1  glutamate receptor ionotropic, kainate 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001269399.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Both this variant and variant 2 encode the same isoform (1).
    Source sequence(s)
    AK292726, AK314284, AP001929, AP002348, AW016926
    Consensus CDS
    CCDS8433.1
    UniProtKB/Swiss-Prot
    Q16099
    UniProtKB/TrEMBL
    B2RAP6
    Related
    ENSP00000404063.2, OTTHUMP00000231881, ENST00000438375.2, OTTHUMT00000387795
    Conserved Domains (4) summary
    cd06394
    Location:26400
    PBP1_iGluR_Kainate_KA1_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the KA1 and KA2 subunits of Kainate receptor
    cd13724
    Location:415785
    PBP2_iGluR_kainate_KA1; The ligand-binding domain of the kainate subtype KA1 of ionotropic glutamate receptors, a member of the type 2 periplasmic-binding fold protein superfamily
    pfam00060
    Location:547816
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:43382
    ANF_receptor; Receptor family ligand binding region
  2. NM_001282473.2NP_001269402.1  glutamate receptor ionotropic, kainate 4 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001269402.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an additional exon in the 5' UTR but lacks several 3' terminal exons, compared to variant 1. Its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK314284, AP001929, AP002348, BC146652
    UniProtKB/TrEMBL
    A6H8K8, B2RAP6
    Conserved Domains (4) summary
    cd06394
    Location:26400
    PBP1_iGluR_Kainate_KA1_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the KA1 and KA2 subunits of Kainate receptor
    pfam00060
    Location:547756
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:43382
    ANF_receptor; Receptor family ligand binding region
    cl21456
    Location:415763
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
  3. NM_014619.4NP_055434.2  glutamate receptor ionotropic, kainate 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_055434.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and encodes the same isoform (1), compared to variant 1.
    Source sequence(s)
    AK292726, AP001929, AW016926, DA246271
    Consensus CDS
    CCDS8433.1
    UniProtKB/Swiss-Prot
    Q16099
    Related
    ENSP00000435648.1, OTTHUMP00000045951, ENST00000527524.7, OTTHUMT00000109760
    Conserved Domains (4) summary
    cd06394
    Location:26400
    PBP1_iGluR_Kainate_KA1_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the KA1 and KA2 subunits of Kainate receptor
    cd13724
    Location:415785
    PBP2_iGluR_kainate_KA1; The ligand-binding domain of the kainate subtype KA1 of ionotropic glutamate receptors, a member of the type 2 periplasmic-binding fold protein superfamily
    pfam00060
    Location:547816
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:43382
    ANF_receptor; Receptor family ligand binding region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    120511746..120988805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017621.2XP_016873110.1  glutamate receptor ionotropic, kainate 4 isoform X2

  2. XM_017017622.2XP_016873111.1  glutamate receptor ionotropic, kainate 4 isoform X3

  3. XM_011542784.2XP_011541086.1  glutamate receptor ionotropic, kainate 4 isoform X1

    Conserved Domains (4) summary
    cd13724
    Location:361731
    PBP2_iGluR_kainate_KA1; The ligand-binding domain of the kainate subtype KA1 of ionotropic glutamate receptors, a member of the type 2 periplasmic-binding fold protein superfamily
    pfam00060
    Location:493762
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:43328
    ANF_receptor; Receptor family ligand binding region
    cl10011
    Location:26346
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  4. XM_011542786.2XP_011541088.1  glutamate receptor ionotropic, kainate 4 isoform X4

    Conserved Domains (3) summary
    cd13724
    Location:173543
    PBP2_iGluR_kainate_KA1; The ligand-binding domain of the kainate subtype KA1 of ionotropic glutamate receptors, a member of the type 2 periplasmic-binding fold protein superfamily
    pfam00060
    Location:305574
    Lig_chan; Ligand-gated ion channel
    cl10011
    Location:7158
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  5. XM_011542787.2XP_011541089.1  glutamate receptor ionotropic, kainate 4 isoform X5

    See identical proteins and their annotated locations for XP_011541089.1

    Conserved Domains (3) summary
    cd13724
    Location:161531
    PBP2_iGluR_kainate_KA1; The ligand-binding domain of the kainate subtype KA1 of ionotropic glutamate receptors, a member of the type 2 periplasmic-binding fold protein superfamily
    pfam00060
    Location:293562
    Lig_chan; Ligand-gated ion channel
    cl10011
    Location:1146
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
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