GRIA1 (glutamate ionotropic receptor AMPA type subunit 1)

2008-12-01 Affiliation

Identity

HGNC

GRIA1

LOCATION

5q33.2

LOCUSID

2890

ALIAS

GLUH1,GLUR1,GLURA,GluA1,HBGR1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2890
MIM: 138248
HGNC: 4571
Ensembl: ENSG00000155511

Variants:

dbSNP: 2890
ClinVar: 2890
TCGA: ENSG00000155511
COSMIC: GRIA1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000155511	ENST00000285900	P42261
ENSG00000155511	ENST00000340592	P42261
ENSG00000155511	ENST00000448073	P42261
ENSG00000155511	ENST00000518142	P42261
ENSG00000155511	ENST00000518783	P42261
ENSG00000155511	ENST00000521843	P42261

Expression (GTEx)

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

Pathway	Source	External ID
Neuroactive ligand-receptor interaction	KEGG	ko04080
Long-term potentiation	KEGG	ko04720
Long-term depression	KEGG	ko04730
Amyotrophic lateral sclerosis (ALS)	KEGG	ko05014
Neuroactive ligand-receptor interaction	KEGG	hsa04080
Long-term potentiation	KEGG	hsa04720
Long-term depression	KEGG	hsa04730
Amyotrophic lateral sclerosis (ALS)	KEGG	hsa05014
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Amphetamine addiction	KEGG	hsa05031
Amphetamine addiction	KEGG	ko05031
Nicotine addiction	KEGG	hsa05033
Nicotine addiction	KEGG	ko05033
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
cAMP signaling pathway	KEGG	hsa04024
cAMP signaling pathway	KEGG	ko04024
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Transport to the Golgi and subsequent modification	REACTOME	R-HSA-948021
ER to Golgi Anterograde Transport	REACTOME	R-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle Transport	REACTOME	R-HSA-204005
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity	REACTOME	R-HSA-399721
Trafficking of AMPA receptors	REACTOME	R-HSA-399719
Trafficking of GluR2-containing AMPA receptors	REACTOME	R-HSA-416993
Activation of AMPA receptors	REACTOME	R-HSA-399710
Activation of NMDA receptor upon glutamate binding and postsynaptic events	REACTOME	R-HSA-442755
Unblocking of NMDA receptor, glutamate binding and activation	REACTOME	R-HSA-438066
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Cargo concentration in the ER	REACTOME	R-HSA-5694530
SALM protein interactions at the synapses	REACTOME	R-HSA-8849932
Protein-protein interactions at synapses	REACTOME	R-HSA-6794362

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA446155	Precursor Cell Lymphoblastic Leukemia-Lymphoma	Disease	ClinicalAnnotation	associated	PD	20592726
PA448492	asparaginase	Chemical	ClinicalAnnotation	associated	PD	20592726
PA449841	haloperidol	Chemical	MultilinkAnnotation	associated		27023437

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
20237279	2010	Leptin regulates AMPA receptor trafficking via PTEN inhibition.	48
19156168	2009	Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.	46
21856433	2011	AMPA receptor regulation during synaptic plasticity in hippocampus and neocortex.	35
19086053	2009	Identification 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
18957620	2009	AMPA receptors promote perivascular glioma invasion via beta1 integrin-dependent adhesion to the extracellular matrix.	33
29367641	2018	C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca²⁺-permeable AMPA receptor-mediated excitotoxicity.	33
18305116	2008	AKAP79 selectively enhances protein kinase C regulation of GluR1 at a Ca2+-calmodulin-dependent protein kinase II/protein kinase C site.	32
20398908	2010	Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.	32
19805317	2009	S-nitrosylation of stargazin regulates surface expression of AMPA-glutamate neurotransmitter receptors.	31

Citation

Dessen P

GRIA1 (glutamate ionotropic receptor AMPA type subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50538/gria1