GRIK1 (glutamate ionotropic receptor kainate type subunit 1)

2014-11-01  

Identity

HGNC
GRIK1
LOCATION
21q21.3
LOCUSID
2897
ALIAS
EAA3,EEA3,GLR5,GLUR5,GluK1,gluR-5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2897
MIM: 138245
HGNC: 4579
Ensembl: ENSG00000171189

Variants:

dbSNP: 2897
ClinVar: 2897
TCGA: ENSG00000171189
COSMIC: GRIK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171189ENST00000327783E7ENK3
ENSG00000171189ENST00000389124H7BYG7
ENSG00000171189ENST00000389125P39086
ENSG00000171189ENST00000399907P39086
ENSG00000171189ENST00000399909E7EPZ0
ENSG00000171189ENST00000399913E9PD61
ENSG00000171189ENST00000399914E7EPY9

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Activation of Kainate Receptors upon glutamate bindingREACTOMER-HSA-451326
Ionotropic activity of Kainate ReceptorsREACTOMER-HSA-451306
Activation of Na-permeable Kainate ReceptorsREACTOMER-HSA-451307
Activation of Ca-permeable Kainate ReceptorREACTOMER-HSA-451308

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446879Alcohol-Related DisordersDiseaseClinicalAnnotationassociatedPKPD19331489
PA451728topiramateChemicalClinicalAnnotationassociatedPKPD19331489

References

Pubmed IDYearTitleCitations
363236842022Kainate receptor subunit 1 (GRIK1) risk variants and GRIK1 deficiency were detected in the Indian ADHD probands.2
363236842022Kainate receptor subunit 1 (GRIK1) risk variants and GRIK1 deficiency were detected in the Indian ADHD probands.2
340600822021In vivo hippocampal cornu ammonis 1-3 glutamatergic abnormalities are associated with temporal lobe epilepsy surgery outcomes.2
340600822021In vivo hippocampal cornu ammonis 1-3 glutamatergic abnormalities are associated with temporal lobe epilepsy surgery outcomes.2
254963382016Self-efficacy mediates the effects of topiramate and GRIK1 genotype on drinking.11
274472432016Association study of DRD2 A2/A1, DRD3 Ser9Gly, DβH -1021C>T, OPRM1 A118G and GRIK1 rs2832407C>A polymorphisms with alcohol dependence.4
254963382016Self-efficacy mediates the effects of topiramate and GRIK1 genotype on drinking.11
274472432016Association study of DRD2 A2/A1, DRD3 Ser9Gly, DβH -1021C>T, OPRM1 A118G and GRIK1 rs2832407C>A polymorphisms with alcohol dependence.4
259419192015Gene-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.0
262773402015The auxiliary subunits Neto1 and Neto2 have distinct, subunit-dependent effects at recombinant GluK1- and GluK2-containing kainate receptors.9
262899452015The effects of single nucleotide polymorphisms in glutamatergic neurotransmission genes on neural response to alcohol cues and craving.16
259419192015Gene-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.0
262773402015The auxiliary subunits Neto1 and Neto2 have distinct, subunit-dependent effects at recombinant GluK1- and GluK2-containing kainate receptors.9
262899452015The effects of single nucleotide polymorphisms in glutamatergic neurotransmission genes on neural response to alcohol cues and craving.16
245256902014Topiramate treatment for heavy drinkers: moderation by a GRIK1 polymorphism.87

Citation

Dessen P

GRIK1 (glutamate ionotropic receptor kainate type subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64039/case-report-explorer/css/template-nav.css