• Gene id: 2902

Gene Summary

• Gene Symbol: GRIN1   Gene   UCSC   Ensembl
• Aliases: GluN1, MRD8, NDHMSD, NDHMSR, NMD-R1, NMDA1, NMDAR1, NR1
• Gene name: glutamate ionotropic receptor NMDA type subunit 1
• Alternate names: glutamate receptor ionotropic, NMDA 1, N-methyl-D-aspartate receptor channel, subunit zeta-1, N-methyl-D-aspartate receptor subunit NR1, glutamate [NMDA] receptor subunit zeta-1, glutamate receptor, ionotropic, N-methyl D-aspartate 1,
• Gene location: 9q34.3 (137139091: 137168758)     Exons: 22     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. The
• OMIM: 138249

Protein Summary

• Protein general information: Q05586  
  • Name: Glutamate receptor ionotropic, NMDA 1 (GluN1) (Glutamate [NMDA] receptor subunit zeta 1) (N methyl D aspartate receptor subunit NR1) (NMD R1)
  • Length: 938  
  • Mass: 105373
• Sequence:

  MSTMRLLTLALLFSCSVARAACDPKIVNIGAVLSTRKHEQMFREAVNQANKRHGSWKIQLNATSVTHKPNAIQMA
  LSVCEDLISSQVYAILVSHPPTPNDHFTPTPVSYTAGFYRIPVLGLTTRMSIYSDKSIHLSFLRTVPPYSHQSSV
  WFEMMRVYSWNHIILLVSDDHEGRAAQKRLETLLEERESKAEKVLQFDPGTKNVTALLMEAKELEARVIILSASE
  DDAATVYRAAAMLNMTGSGYVWLVGEREISGNALRYAPDGILGLQLINGKNESAHISDAVGVVAQAVHELLEKEN
  ITDPPRGCVGNTNIWKTGPLFKRVLMSSKYADGVTGRVEFNEDGDRKFANYSIMNLQNRKLVQVGIYNGTHVIPN
  DRKIIWPGGETEKPRGYQMSTRLKIVTIHQEPFVYVKPTLSDGTCKEEFTVNGDPVKKVICTGPNDTSPGSPRHT
  VPQCCYGFCIDLLIKLARTMNFTYEVHLVADGKFGTQERVNNSNKKEWNGMMGELLSGQADMIVAPLTINNERAQ
  YIEFSKPFKYQGLTILVKKEIPRSTLDSFMQPFQSTLWLLVGLSVHVVAVMLYLLDRFSPFGRFKVNSEEEEEDA
  LTLSSAMWFSWGVLLNSGIGEGAPRSFSARILGMVWAGFAMIIVASYTANLAAFLVLDRPEERITGINDPRLRNP
  SDKFIYATVKQSSVDIYFRRQVELSTMYRHMEKHNYESAAEAIQAVRDNKLHAFIWDSAVLEFEASQKCDLVTTG
  ELFFRSGFGIGMRKDSPWKQNVSLSILKSHENGFMEDLDKTWVRYQECDSRSNAPATLTFENMAGVFMLVAGGIV
  AGIFLIFIEIAYKRHKDARRKQMQLAFAAVNVWRKNLQDRKSGRAEPDPKKKATFRAITSTLASSFKRRRSSKDT
  STGGGRGALQNQKDTVLPRRAIEREEGQLQLCSRHRES

• Structural information:
  • Interpro: IPR001828  IPR018882  IPR019594  IPR001508  IPR001320   IPR028082  
  • PDB: 2HQW 2NR1 3BYA 5H8F 5H8H 5H8N 5H8Q 5I2K 5I2N 5KCJ 5KDT 5TP9 5TPA 6IRA 6IRF 6IRG 6IRH
  • PDBsum: 2HQW 2NR1 3BYA 5H8F 5H8H 5H8N 5H8Q 5I2K 5I2N 5KCJ 5KDT 5TP9 5TPA 6IRA 6IRF 6IRG 6IRH
  • STRING: ENSP00000360608
• Other Databases: GeneCards:  GRIN1  Malacards:  GRIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004972	NMDA glutamate receptor activity	TAS	molecular function
GO:0001540	amyloid-beta binding	ISS	molecular function
GO:0044877	protein-containing complex binding	ISS	molecular function
GO:1904646	cellular response to amyloid-beta	IGI	NOT|biological process
GO:0098976	excitatory chemical synaptic transmission	NAS	biological process
GO:0017146	NMDA selective glutamate receptor complex	TAS	cellular component
GO:1903428	positive regulation of reactive oxygen species biosynthetic process	ISS	biological process
GO:0010524	positive regulation of calcium ion transport into cytosol	ISS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0048167	regulation of synaptic plasticity	NAS	biological process
GO:0097060	synaptic membrane	ISS	cellular component
GO:0007420	brain development	NAS	biological process
GO:2001056	positive regulation of cysteine-type endopeptidase activity	ISS	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0017146	NMDA selective glutamate receptor complex	IBA	cellular component
GO:0015276	ligand-gated ion channel activity	IBA	molecular function
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0004972	NMDA glutamate receptor activity	IBA	contributes to
GO:0045202	synapse	IBA	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0016594	glycine binding	IDA	molecular function
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0004972	NMDA glutamate receptor activity	IDA	molecular function
GO:1905429	response to glycine	IDA	biological process
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0004972	NMDA glutamate receptor activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0022849	glutamate-gated calcium ion channel activity	IDA	molecular function
GO:0097553	calcium ion transmembrane import into cytosol	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0004972	NMDA glutamate receptor activity	ISS	molecular function
GO:0004972	NMDA glutamate receptor activity	IMP	molecular function
GO:0051290	protein heterotetramerization	ISS	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IMP	biological process
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:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0000165	MAPK cascade	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:2000310	regulation of NMDA receptor activity	TAS	biological process
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0001964	startle response	IEA	biological process
GO:0001975	response to amphetamine	IEA	biological process
GO:0004972	NMDA glutamate receptor activity	IEA	molecular function
GO:0005261	cation channel activity	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006812	cation transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0007616	long-term memory	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0008355	olfactory learning	IEA	biological process
GO:0016594	glycine binding	IEA	molecular function
GO:0017146	NMDA selective glutamate receptor complex	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0035176	social behavior	IEA	biological process
GO:0035249	synaptic transmission, glutamatergic	IEA	biological process
GO:0043278	response to morphine	IEA	biological process
GO:0043523	regulation of neuron apoptotic process	IEA	biological process
GO:0043576	regulation of respiratory gaseous exchange	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0048168	regulation of neuronal synaptic plasticity	IEA	biological process
GO:0050770	regulation of axonogenesis	IEA	biological process
GO:0050905	neuromuscular process	IEA	biological process
GO:0051963	regulation of synapse assembly	IEA	biological process
GO:0055074	calcium ion homeostasis	IEA	biological process
GO:0060179	male mating behavior	IEA	biological process
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0001661	conditioned taste aversion	IEA	biological process
GO:0001967	suckling behavior	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007612	learning	IEA	biological process
GO:0008306	associative learning	IEA	biological process
GO:0008542	visual learning	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0010646	regulation of cell communication	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0018964	propylene metabolic process	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0021586	pons maturation	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048169	regulation of long-term neuronal synaptic plasticity	IEA	biological process
GO:0048814	regulation of dendrite morphogenesis	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060134	prepulse inhibition	IEA	biological process
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:1903539	protein localization to postsynaptic membrane	IEA	biological process
GO:0042165	neurotransmitter binding	ISS	molecular function
GO:0043083	synaptic cleft	ISS	cellular component
GO:0043195	terminal bouton	ISS	cellular component
GO:2000463	positive regulation of excitatory postsynaptic potential	ISS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0018964	propylene metabolic process	ISS	biological process
GO:0043197	dendritic spine	ISS	cellular component
GO:0060076	excitatory synapse	ISS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0045471	response to ethanol	IDA	biological process
GO:0030425	dendrite	IDA	cellular component
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0016595	glutamate binding	IDA	molecular function
GO:0016594	glycine binding	IDA	molecular function
GO:0005262	calcium channel activity	IDA	contributes to
GO:0004972	NMDA glutamate receptor activity	IDA	contributes to
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0006812	cation transport	IDA	biological process
GO:0004972	NMDA glutamate receptor activity	IDA	contributes to
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:0060079	excitatory postsynaptic potential	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045211	postsynaptic membrane	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0008542	visual learning	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0055074	calcium ion homeostasis	ISS	biological process
GO:0043005	neuron projection	ISS	cellular component
GO:0016594	glycine binding	IMP	molecular function
GO:0008021	synaptic vesicle	ISS	cellular component
GO:0005516	calmodulin binding	ISS	molecular function
GO:0045202	synapse	ISS	cellular component
GO:0035235	ionotropic glutamate receptor signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04080	Neuroactive ligand-receptor interaction
hsa05016	Huntington disease
hsa04014	Ras signaling pathway
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa05034	Alcoholism
hsa05017	Spinocerebellar ataxia
hsa04724	Glutamatergic synapse
hsa04713	Circadian entrainment
hsa04720	Long-term potentiation
hsa05031	Amphetamine addiction
hsa05030	Cocaine addiction
hsa05014	Amyotrophic lateral sclerosis
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Alzheimer's disease	PMID:24156266
Cerebral infarction	PMID:23723305
Vascular dementia	PMID:25261450
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq