Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2890
Gene name Gene Name - the full gene name approved by the HGNC.	Glutamate ionotropic receptor AMPA type subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GRIA1
Synonyms (NCBI Gene) Gene synonyms aliases	GLUH1, GLUR1, GLURA, GluA1, HBGR1, MRD67, MRT76
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MRD67, MRT76
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q33.2
Summary Summary of gene provided in NCBI Entrez Gene.	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each posses

Show/Hide all(44)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004156	hsa-miR-192-5p	Microarray	16822819
MIRT018501	hsa-miR-335-5p	Microarray	18185580
MIRT437901	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR	23595422
MIRT1034158	hsa-miR-103b	CLIP-seq
MIRT1034159	hsa-miR-1229	CLIP-seq
MIRT1034160	hsa-miR-3065-5p	CLIP-seq
MIRT1034161	hsa-miR-4270	CLIP-seq
MIRT1034162	hsa-miR-4303	CLIP-seq
MIRT1034163	hsa-miR-4320	CLIP-seq
MIRT1034164	hsa-miR-4441	CLIP-seq
MIRT1034165	hsa-miR-452	CLIP-seq
MIRT1034166	hsa-miR-4676-3p	CLIP-seq
MIRT1034167	hsa-miR-4762-3p	CLIP-seq
MIRT1034168	hsa-miR-490-3p	CLIP-seq
MIRT1034169	hsa-miR-548ac	CLIP-seq
MIRT1034170	hsa-miR-548d-3p	CLIP-seq
MIRT1034171	hsa-miR-548z	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT2006737	hsa-miR-1238	CLIP-seq
MIRT2006738	hsa-miR-1273e	CLIP-seq
MIRT2006739	hsa-miR-3140-3p	CLIP-seq
MIRT2239109	hsa-miR-1271	CLIP-seq
MIRT2239110	hsa-miR-1305	CLIP-seq
MIRT2239111	hsa-miR-182	CLIP-seq
MIRT2239112	hsa-miR-199a-3p	CLIP-seq
MIRT2239113	hsa-miR-199b-3p	CLIP-seq
MIRT2239114	hsa-miR-3129-5p	CLIP-seq
MIRT2239115	hsa-miR-3179	CLIP-seq
MIRT2239116	hsa-miR-4693-3p	CLIP-seq
MIRT2239117	hsa-miR-4766-3p	CLIP-seq
MIRT2239118	hsa-miR-4793-5p	CLIP-seq
MIRT2239119	hsa-miR-522	CLIP-seq
MIRT2239120	hsa-miR-548p	CLIP-seq
MIRT2239121	hsa-miR-603	CLIP-seq
MIRT2239122	hsa-miR-873	CLIP-seq
MIRT2239123	hsa-miR-96	CLIP-seq
MIRT2388757	hsa-miR-3123	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq

Show/Hide all(52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0004971	Function	AMPA glutamate receptor activity	IBA	21873635
GO:0004971	Function	AMPA glutamate receptor activity	IDA	20805473, 21172611
GO:0005515	Function	Protein binding	IPI	20805473, 32814053
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0007165	Process	Signal transduction	TAS	1311100
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007616	Process	Long-term memory	IEA
GO:0008066	Function	Glutamate receptor activity	TAS	1320959
GO:0009986	Component	Cell surface	ISS
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0014069	Component	Postsynaptic density	ISS
GO:0015276	Function	Ligand-gated ion channel activity	IBA	21873635
GO:0030165	Function	PDZ domain binding	ISS
GO:0030425	Component	Dendrite	ISS
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031623	Process	Receptor internalization	IEA
GO:0031901	Component	Early endosome membrane	ISS
GO:0032281	Component	AMPA glutamate receptor complex	IBA	21873635
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0032591	Component	Dendritic spine membrane	IDA	20434989
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0034220	Process	Ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IEA
GO:0038023	Function	Signaling receptor activity	IBA	21873635
GO:0043025	Component	Neuronal cell body	ISS
GO:0043197	Component	Dendritic spine	IBA	21873635
GO:0043197	Component	Dendritic spine	ISS
GO:0044308	Component	Axonal spine	IEA
GO:0044309	Component	Neuron spine	ISS
GO:0048208	Process	COPII vesicle coating	TAS
GO:0055037	Component	Recycling endosome	IDA	20434989
GO:0055038	Component	Recycling endosome membrane	ISS
GO:0060076	Component	Excitatory synapse	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060292	Process	Long-term synaptic depression	IEA
GO:0071242	Process	Cellular response to ammonium ion	IEA
GO:0097060	Component	Synaptic membrane	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099061	Component	Integral component of postsynaptic density membrane	IEA
GO:0099544	Component	Perisynaptic space	IEA
GO:0099566	Process	Regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:0099583	Function	Neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IBA	21873635
GO:1904315	Function	Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:2000310	Process	Regulation of NMDA receptor activity	TAS

MIM	HGNC	e!Ensembl
138248	4571	ENSG00000155511

Protein

UniProt ID

P42261

Protein name

Glutamate receptor 1 (GluR-1) (AMPA-selective glutamate receptor 1) (GluR-A) (GluR-K1) (Glutamate receptor ionotropic, AMPA 1)

Protein function

Ionotropic glutamate receptor that functions as a ligand-gated cation channel, gated by L-glutamate and glutamatergic agonists such as alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), quisqualic acid, and kainic acid (PubMed:1311

PDB

6X5Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	37 → 375	Receptor family ligand binding region	Family
PF10613	Lig_chan-Glu_bd	407 → 522	Ligated ion channel L-glutamate- and glycine-binding site	Domain
PF00060	Lig_chan	536 → 817	Ligand-gated ion channel	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in brain.

Sequence

MQHIFAFFCTGFLGAVVGANFPNNIQIGGLFPNQQSQEHAAFRFALSQLTEPPKLLPQID
IVNISDSFEMTYRFCSQFSKGVYAIFGFYERRTVNMLTSFCGALHVCFITPSFPVDTSNQ
FVLQLRPELQDALISIIDHYKWQKFVYIYDADRGLSVLQKVLDTAAEKNWQVTAVNILTT
TEEGYRMLFQDLEKKKERLVVVDCESERLNAILGQIIKLEKNGIGYHYILANLGFMDIDL
NKFKESGANVTGFQLVNYTDTIPAKIMQQWKNSDARDHTRVDWKRPKYTSALTYDGVKVM
AEAFQSLRRQRIDISRRGNAGDCLANPAVPWGQGIDIQRALQQVRFEGLTGNVQFNEKGR
RTNYTLHVIEMKHDGIRKIGYWNEDDKFVPAATDAQAGGDNSSVQNRTYIVTTILEDPYV
MLKKNANQFEGNDRYEGYCVELAAEIAKHVGYSYRLEIVSDGKYGARDPDTKAWNGMVGE
LVYGRADVAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSKPGVFSFLDPLAYEIW
MCIVFAYIGVSVVLFLVSRFSPYEWHSEEFEEGRDQTTSDQSNEFGIFNSLWFSLGAFMQ
QGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDLAKQTEIA
YGTLEAGSTKEFFRRSKIAVFEKMWTYMKSAEPSVFVRTTEEGMIRVRKSKGKYAYLLES
TMNEYIEQRKPCDTMKVGGNLDSKGYGIATPKGSALRNPVNLAVLKLNEQGLLDKLKNKW
WYDKGECGSGGGDSKDKTSALSLSNVAGVFYILIGGLGLAMLVALIEFCYKSRSESKRMK
GFCLIPQQSINEAIRTSTLPRNSGAGASSGGSGENGRVVSHDFPKSMQSIPCMSHSSGMP
LGATGL

Sequence length

906

Interactions

View interactions

	KEGG		Reactome
	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment Long-term potentiation Retrograde endocannabinoid signaling Glutamatergic synapse Dopaminergic synapse Long-term depression Amyotrophic lateral sclerosis Huntington disease Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases Amphetamine addiction Nicotine addiction		COPII-mediated vesicle transport Activation of AMPA receptors Trafficking of AMPA receptors Trafficking of GluR2-containing AMPA receptors Unblocking of NMDA receptors, glutamate binding and activation Cargo concentration in the ER Synaptic adhesion-like molecules

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	11706102
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	24896178
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	30285260, 26198764, 23053966, 21693126

Show/Hide Unknown Diseases (5)

Disease term	Disease name	References	Source
Unknown
Mental depression	Mental Depression, Depressive disorder	23990563, 23262314, 24725413, 24048851, 24895223	ClinVar
Intellectual Developmental Disorder	intellectual developmental disorder, autosomal recessive 76		GenCC
Insomnia	Insomnia		GWAS
Metabolic Syndrome	Metabolic Syndrome		GWAS
Restless Legs Syndrome	Restless Legs Syndrome		GWAS

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	36524130, 37189138, 39791348
Alzheimer Disease	Associate	35226190
Amyotrophic Lateral Sclerosis	Associate	29367641
Ataxia	Associate	28628100
Attention Deficit Disorder with Hyperactivity	Associate	37964012
Autism Spectrum Disorder	Associate	36161652
Autistic Disorder	Associate	28628100
Autoimmune Diseases of the Nervous System	Associate	35581601
Azoospermia	Associate	40215689
Bipolar Disorder	Associate	18484081, 24901472
Death Sudden Cardiac	Associate	21658281
Depressive Disorder	Associate	20579352
Developmental Disabilities	Associate	28628100, 35675825, 36161652
Drug Hypersensitivity	Associate	20592726
Drug Resistant Epilepsy	Associate	24613745
Encephalitis	Associate	35581601
Epilepsy	Associate	14985442
Hemimegalencephaly	Associate	15571509
Hippocampal Sclerosis	Associate	14985442
Hypersensitivity	Associate	26457809
Intellectual Disability	Associate	34731330, 35675825, 36161652
Iron Overload	Associate	34057756
Lead Poisoning Nervous System	Associate	17924980
Learning Disabilities	Associate	28628100
Malformations of Cortical Development	Associate	24613745
Mental Disorders	Associate	24901472
Migraine Disorders	Associate	20579352, 26800698
Migraine with Aura	Associate	26800698
Migraine without Aura	Associate	20579352
Multiple Sclerosis	Associate	17924980
Muscle Hypotonia	Associate	19295509
Neoplasms	Associate	25062106, 35361846
Neurologic Manifestations	Associate	35675825, 37921875
Optic Atrophy Hereditary Leber	Inhibit	31234430
Osteoporosis	Inhibit	34937502
Osteoporosis	Associate	37318459
Osteoporotic Fractures	Associate	34937502
Osteosarcoma	Associate	40383808
Polycystic Ovary Syndrome	Associate	31278444
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	26457809
Prostatic Neoplasms	Associate	25062106
Schizophrenia	Stimulate	17942280
Schizophrenia	Associate	29032150
Schizophrenia Spectrum and Other Psychotic Disorders	Associate	18484081
Seizures	Associate	35675825, 36161652
Status Epilepticus	Associate	24613745
Teratoma	Associate	20930449

GRIA1 (glutamate ionotropic receptor AMPA type subunit 1)