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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2890
Gene name	Glutamate ionotropic receptor AMPA type subunit 1
Gene symbol	GRIA1
Synonyms (NCBI Gene)	GLUH1GLUR1GLURAGluA1HBGR1MRD67MRT76
Chromosome	5
Chromosome location	5q33.2
Summary	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 assayqRT-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

164

Show/Hide all (164)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IEA
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0001919	Process	Regulation of receptor recycling	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IEA
GO:0004970	Function	Glutamate-gated receptor activity	IEA
GO:0004971	Function	AMPA glutamate receptor activity	IBA
GO:0004971	Function	AMPA glutamate receptor activity	IDA	1311100, 20805473, 21172611
GO:0004971	Function	AMPA glutamate receptor activity	IEA
GO:0004971	Function	AMPA glutamate receptor activity	IMP	28628100, 35675825
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	20805473, 32814053
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	1311100
GO:0005911	Component	Cell-cell junction	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007165	Process	Signal transduction	TAS	1311100
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	1311100
GO:0007416	Process	Synapse assembly	IEA
GO:0007616	Process	Long-term memory	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008179	Function	Adenylate cyclase binding	IEA
GO:0008328	Component	Ionotropic glutamate receptor complex	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009744	Process	Response to sucrose	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0010226	Process	Response to lithium ion	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019865	Function	Immunoglobulin binding	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	ISS
GO:0030165	Function	PDZ domain binding	IEA
GO:0030165	Function	PDZ domain binding	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030666	Component	Endocytic vesicle membrane	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031489	Function	Myosin V binding	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031623	Process	Receptor internalization	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0031681	Function	G-protein beta-subunit binding	IEA
GO:0031698	Function	Beta-2 adrenergic receptor binding	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	ISS
GO:0032279	Component	Asymmetric synapse	IEA
GO:0032281	Component	AMPA glutamate receptor complex	IBA
GO:0032281	Component	AMPA glutamate receptor complex	IDA	23739980
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0032355	Process	Response to estradiol	IEA
GO:0032590	Component	Dendrite membrane	IEA
GO:0032591	Component	Dendritic spine membrane	IDA	20434989
GO:0032591	Component	Dendritic spine membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0035254	Function	Glutamate receptor binding	IEA
GO:0036477	Component	Somatodendritic compartment	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0043198	Component	Dendritic shaft	IEA
GO:0043278	Process	Response to morphine	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0044297	Component	Cell body	IEA
GO:0044308	Component	Axonal spine	IEA
GO:0044309	Component	Neuron spine	IEA
GO:0044309	Component	Neuron spine	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	23739980
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045838	Process	Positive regulation of membrane potential	IEA
GO:0046685	Process	Response to arsenic-containing substance	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048266	Process	Behavioral response to pain	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050806	Process	Positive regulation of synaptic transmission	IEA
GO:0051018	Function	Protein kinase A binding	IEA
GO:0051428	Function	Peptide hormone receptor binding	IEA
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0055037	Component	Recycling endosome	IDA	20434989
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055038	Component	Recycling endosome membrane	ISS
GO:0060076	Component	Excitatory synapse	IEA
GO:0060076	Component	Excitatory synapse	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060292	Process	Long-term synaptic depression	IEA
GO:0060992	Process	Response to fungicide	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071242	Process	Cellular response to ammonium ion	IEA
GO:0071359	Process	Cellular response to dsRNA	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071375	Process	Cellular response to peptide hormone stimulus	IEA
GO:0071418	Process	Cellular response to amine stimulus	IEA
GO:0090326	Process	Positive regulation of locomotion involved in locomotory behavior	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0097060	Component	Synaptic membrane	ISS
GO:0097110	Function	Scaffold protein binding	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099092	Component	Postsynaptic density, intracellular component	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	8824304
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	8824304
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	8824304
GO:0099544	Component	Perisynaptic space	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1905232	Process	Cellular response to L-glutamate	IEA
GO:1990416	Process	Cellular response to brain-derived neurotrophic factor stimulus	IEA
GO:1990635	Component	Proximal dendrite	IEA
GO:1990708	Process	Conditioned place preference	IEA
GO:1990911	Process	Response to psychosocial stress	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	IEA

MIM	HGNC	e!Ensembl
138248	4571	ENSG00000155511

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

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs1561846159	RCV001291381
GRIA1-related disorder	Likely pathogenic	rs2480235236	RCV003917210
Intellectual developmental disorder, autosomal dominant 67	Likely pathogenic; Pathogenic	rs2149520942, rs1435095170, rs2479875652, rs587776937, rs1561846159	RCV004738558 RCV003226589 RCV003226595 RCV002260601 RCV002260664
Intellectual developmental disorder, autosomal recessive 76	Pathogenic; Likely pathogenic	rs1173036683, rs587776937	RCV002260876 RCV006257259
Intellectual disability	Likely pathogenic; Pathogenic	rs587776937	RCV001420360
Non-syndromic intellectual disability	Likely pathogenic; Pathogenic	rs1561846159	RCV000709813

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Likely benign	rs139047509	RCV005938793
Neurodevelopmental disorder	Uncertain significance	rs564265256	RCV001374968
See cases	Uncertain significance	rs143445023, rs1758859643	RCV001837402 RCV001198175

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)