• Gene id: 2890

Gene Summary

• Gene Symbol: GRIA1   Gene   UCSC   Ensembl
• Aliases: GLUH1, GLUR1, GLURA, GluA1, HBGR1
• Gene name: glutamate ionotropic receptor AMPA type subunit 1
• Alternate names: glutamate receptor 1, AMPA 1, AMPA-selective glutamate receptor 1, gluR-1, gluR-A, gluR-K1, glutamate receptor, ionotropic, AMPA 1,
• Gene location: 5q33.2 (153490523: 153813872)     Exons: 20     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 610659

Protein Summary

• Protein general information: P42261  
  • Name: Glutamate receptor 1 (GluR 1) (AMPA selective glutamate receptor 1) (GluR A) (GluR K1) (Glutamate receptor ionotropic, AMPA 1) (GluA1)
  • Length: 906  
  • Mass: 101506
  • Tissue specificity: Widely expressed in brain.
• Sequence:

  MQHIFAFFCTGFLGAVVGANFPNNIQIGGLFPNQQSQEHAAFRFALSQLTEPPKLLPQIDIVNISDSFEMTYRFC
  SQFSKGVYAIFGFYERRTVNMLTSFCGALHVCFITPSFPVDTSNQFVLQLRPELQDALISIIDHYKWQKFVYIYD
  ADRGLSVLQKVLDTAAEKNWQVTAVNILTTTEEGYRMLFQDLEKKKERLVVVDCESERLNAILGQIIKLEKNGIG
  YHYILANLGFMDIDLNKFKESGANVTGFQLVNYTDTIPAKIMQQWKNSDARDHTRVDWKRPKYTSALTYDGVKVM
  AEAFQSLRRQRIDISRRGNAGDCLANPAVPWGQGIDIQRALQQVRFEGLTGNVQFNEKGRRTNYTLHVIEMKHDG
  IRKIGYWNEDDKFVPAATDAQAGGDNSSVQNRTYIVTTILEDPYVMLKKNANQFEGNDRYEGYCVELAAEIAKHV
  GYSYRLEIVSDGKYGARDPDTKAWNGMVGELVYGRADVAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSK
  PGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHSEEFEEGRDQTTSDQSNEFGIFNSLWFSLGAFMQ
  QGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDLAKQTEIAYGTLEAGSTKEFFRR
  SKIAVFEKMWTYMKSAEPSVFVRTTEEGMIRVRKSKGKYAYLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGIAT
  PKGSALRNPVNLAVLKLNEQGLLDKLKNKWWYDKGECGSGGGDSKDKTSALSLSNVAGVFYILIGGLGLAMLVAL
  IEFCYKSRSESKRMKGFCLIPQQSINEAIRTSTLPRNSGAGASSGGSGENGRVVSHDFPKSMQSIPCMSHSSGMP
  LGATGL

• Structural information:
  • Interpro: IPR001828  IPR019594  IPR001508  IPR001320  IPR028082  
  • DIP: 41487
  • STRING: ENSP00000428994
• Other Databases: GeneCards:  GRIA1  Malacards:  GRIA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	ISS	molecular function
GO:0030425	dendrite	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0097060	synaptic membrane	ISS	cellular component
GO:0004971	AMPA glutamate receptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0008066	glutamate receptor activity	IBA	molecular function
GO:0032281	AMPA glutamate receptor complex	IBA	cellular component
GO:0043197	dendritic spine	IBA	cellular component
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0050804	modulation of chemical synaptic transmission	IBA	biological process
GO:0015276	ligand-gated ion channel activity	IBA	molecular function
GO:0035249	synaptic transmission, glutamatergic	IBA	biological process
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0098839	postsynaptic density membrane	IBA	cellular component
GO:0099583	neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IBA	molecular function
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA	molecular function
GO:0004971	AMPA glutamate receptor activity	IDA	molecular function
GO:0004971	AMPA glutamate receptor activity	IDA	molecular function
GO:0030425	dendrite	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0032281	AMPA glutamate receptor complex	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004970	ionotropic glutamate receptor activity	IEA	molecular function
GO:0015276	ligand-gated ion channel activity	IEA	molecular function
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0008066	glutamate receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:2000310	regulation of NMDA receptor activity	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0099583	neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IEA	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0036477	somatodendritic compartment	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0008328	ionotropic glutamate receptor complex	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0007616	long-term memory	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0097060	synaptic membrane	IEA	cellular component
GO:0060292	long-term synaptic depression	IEA	biological process
GO:0060076	excitatory synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0044309	neuron spine	IEA	cellular component
GO:0044308	axonal spine	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0032590	dendrite membrane	IEA	cellular component
GO:0032281	AMPA glutamate receptor complex	IEA	cellular component
GO:0031623	receptor internalization	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030165	PDZ domain binding	ISS	molecular function
GO:0009986	cell surface	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0044309	neuron spine	ISS	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0032591	dendritic spine membrane	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0031901	early endosome membrane	ISS	cellular component
GO:0055038	recycling endosome membrane	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa05016	Huntington disease
hsa04024	cAMP signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa05017	Spinocerebellar ataxia
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04713	Circadian entrainment
hsa04720	Long-term potentiation
hsa05031	Amphetamine addiction
hsa04730	Long-term depression
hsa05014	Amyotrophic lateral sclerosis
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq