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
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
228076862012GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
245256902014Topiramate treatment for heavy drinkers: moderation by a GRIK1 polymorphism.61
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
176983242007Differential alterations of kainate receptor subunits in inhibitory interneurons in the anterior cingulate cortex in schizophrenia and bipolar disorder.27
193206262009Association of markers in the 3' region of the GluR5 kainate receptor subunit gene to alcohol dependence.27
193314892009A preliminary pharmacogenetic investigation of adverse events from topiramate in heavy drinkers.26

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/grik1