Gene table of GRIN1 : glutamate ionotropic receptor NMDA type subunit 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GRIN1	OMIM link	Number of associated genes	genes
PS156200	MENTAL RETARDATION, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	44	EHMT1, KANSL1, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, AUTS2, PACS1, DPP6, MBD5, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, NR1I3, CTNNB1, ARID1B, MYT1L, CACNG2, COL4A3BP, SMARCB1, MEF2C, SMARCE1, SMARCA4, ZBTB18, ADNP, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A

Download the gene annotation in CSV format

Annotation of the gene GRIN1

Associated genes in ENSEMBL

ENSG00000176884

Associated proteins - SwissProt Accession ID

Q05586

Associated PDB IDs

Cytogenetic Band

9q34.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Nicotine addiction	hsa05033	7.38
Alzheimer's disease	hsa05010	5.34
Calcium signaling pathway	hsa04020	5.22
Cocaine addiction	hsa05030	7.07
cAMP signaling pathway	hsa04024	5.05
Long-term potentiation	hsa04720	6.64
Rap1 signaling pathway	hsa04015	4.97
Ras signaling pathway	hsa04014	4.9
Amphetamine addiction	hsa05031	6.62
Glutamatergic synapse	hsa04724	5.84
Alcoholism	hsa05034	5.59
Amyotrophic lateral sclerosis (ALS)	hsa05014	7.01
Huntington's disease	hsa05016	5.17
Circadian entrainment	hsa04713	6.11
Neuroactive ligand-receptor interaction	hsa04080	4.58

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
CREB phosphorylation through the activation of CaMKII	R-HSA-442729	9.08
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	R-HSA-2404192	4.85
Gastrin-CREB signalling pathway via PKC and MAPK	R-HSA-881907	4.26
NCAM signaling for neurite out-growth	R-HSA-375165	4.9
Signaling by Interleukins	R-HSA-449147	4.71
Post NMDA receptor activation events	R-HSA-438064	7.85
Signaling by Leptin	R-HSA-2586552	5.1
Frs2-mediated activation	R-HSA-170968	5.12
Cytokine Signaling in Immune system	R-HSA-1280215	3.74
EPHB-mediated forward signaling	R-HSA-3928662	7.62
IGF1R signaling cascade	R-HSA-2428924	4.85
Unblocking of NMDA receptor, glutamate binding and activation	R-HSA-438066	8.89
Ras activation uopn Ca2+ infux through NMDA receptor	R-HSA-442982	8.89
IRS-related events triggered by IGF1R	R-HSA-2428928	4.85
Signaling by ERBB4	R-HSA-1236394	4.7
IRS-mediated signalling	R-HSA-112399	4.87
MAPK1/MAPK3 signaling	R-HSA-5684996	5.11
CREB phosphorylation through the activation of Ras	R-HSA-442742	8.23
Developmental Biology	R-HSA-1266738	3.48
RAF/MAP kinase cascade	R-HSA-5673001	5.15
EPH-Ephrin signaling	R-HSA-2682334	6.43
Downstream signaling of activated FGFR1	R-HSA-5654687	4.71
MAPK family signaling cascades	R-HSA-5683057	4.89
Signalling by NGF	R-HSA-166520	4.23
Signaling by VEGF	R-HSA-194138	4.66
Signalling to p38 via RIT and RIN	R-HSA-187706	5.12
FCERI mediated MAPK activation	R-HSA-2871796	4.32
Signaling by EGFR	R-HSA-177929	4.59
FRS-mediated FGFR2 signaling	R-HSA-5654700	5.14
SOS-mediated signalling	R-HSA-112412	5.15
FRS-mediated FGFR3 signaling	R-HSA-5654706	5.14
Signaling by Insulin receptor	R-HSA-74752	4.73
Neuronal System	R-HSA-112316	4.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	R-HSA-112314	5.85
Transmission across Chemical Synapses	R-HSA-112315	5.28
Signaling by FGFR4	R-HSA-5654743	4.69
Signaling by FGFR3	R-HSA-5654741	4.69
VEGFA-VEGFR2 Pathway	R-HSA-4420097	4.7
GRB2 events in ERBB2 signaling	R-HSA-1963640	5.15
Interleukin receptor SHC signaling	R-HSA-912526	5.09
Signaling by FGFR	R-HSA-190236	4.67
Downstream signaling of activated FGFR3	R-HSA-5654708	4.71
Fc epsilon receptor (FCERI) signaling	R-HSA-2454202	4.03
Immune System	R-HSA-168256	2.37
Downstream signaling of activated FGFR4	R-HSA-5654716	4.71
Innate Immune System	R-HSA-168249	3.17
Signaling by SCF-KIT	R-HSA-1433557	4.73
Interleukin-2 signaling	R-HSA-451927	5.05
SHC1 events in ERBB2 signaling	R-HSA-1250196	5.15
Signaling by ERBB2	R-HSA-1227986	4.66
Signalling to RAS	R-HSA-167044	5.08
DAP12 signaling	R-HSA-2424491	4.64
Interleukin-3, 5 and GM-CSF signaling	R-HSA-512988	4.99
Activation of NMDA receptor upon glutamate binding and postsynaptic events	R-HSA-442755	7.7
Downstream signaling of activated FGFR2	R-HSA-5654696	4.71
Signaling by FGFR1	R-HSA-5654736	4.69
SHC1 events in EGFR signaling	R-HSA-180336	5.15
NGF signalling via TRKA from the plasma membrane	R-HSA-187037	4.51
FRS-mediated FGFR1 signaling	R-HSA-5654693	5.14
Prolonged ERK activation events	R-HSA-169893	5.11
FRS-mediated FGFR4 signaling	R-HSA-5654712	5.14
Signaling by GPCR	R-HSA-372790	2.68
Signaling by FGFR2	R-HSA-5654738	4.68
GRB2 events in EGFR signaling	R-HSA-179812	5.15
Signalling to ERKs	R-HSA-187687	5.04
Insulin receptor signalling cascade	R-HSA-74751	4.85
ARMS-mediated activation	R-HSA-170984	5.12
DAP12 interactions	R-HSA-2172127	4.56
SHC1 events in ERBB4 signaling	R-HSA-1250347	5.15
Signaling by PDGF	R-HSA-186797	4.53
Axon guidance	R-HSA-422475	3.93
VEGFR2 mediated cell proliferation	R-HSA-5218921	5.07
Signal Transduction	R-HSA-162582	1.78
Downstream signal transduction	R-HSA-186763	4.65

Associated GO terms for Molecular function

GO term	GO ID	GO IC
Ras guanyl-nucleotide exchange factor activity	GO:0005088	4.31
cation channel activity	GO:0005261	4.04
calcium channel activity	GO:0005262	5.03
guanyl-nucleotide exchange factor activity	GO:0005085	4.02
enzyme binding	GO:0019899	2.27
ligand-gated ion channel activity	GO:0015276	4.8
molecular transducer activity	GO:0060089	2.32
glutamate receptor activity	GO:0008066	6.44
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
signaling receptor activity	GO:0038023	2.49
glutamate binding	GO:0016595	7.54
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
amino acid binding	GO:0016597	5.71
ionotropic glutamate receptor activity	GO:0004970	6.79
glycine binding	GO:0016594	7.1
anion binding	GO:0043168	4.17
calcium ion transmembrane transporter activity	GO:0015085	4.89
molecular function regulator	GO:0098772	2.51
NMDA glutamate receptor activity	GO:0004972	7.66
protein heterodimerization activity	GO:0046982	3.64
transmembrane transporter activity	GO:0022857	2.82
ion binding	GO:0043167	1.36
calcium ion binding	GO:0005509	3.17
transmitter-gated ion channel activity	GO:0022824	6.41
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
extracellular ligand-gated ion channel activity	GO:0005230	5.42
voltage-gated cation channel activity	GO:0022843	4.83
neurotransmitter receptor activity	GO:0030594	5.5
protein binding	GO:0005515	0.46
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
excitatory extracellular ligand-gated ion channel activity	GO:0005231	5.73
neurotransmitter binding	GO:0042165	6.34
glutamate receptor binding	GO:0035254	6.13
extracellular-glutamate-gated ion channel activity	GO:0005234	6.74
calmodulin binding	GO:0005516	4.55
cation transmembrane transporter activity	GO:0008324	3.32
protein dimerization activity	GO:0046983	2.72
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
voltage-gated ion channel activity	GO:0005244	4.49
carboxylic acid binding	GO:0031406	4.64
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
transmitter-gated channel activity	GO:0022835	6.41
ligand-gated channel activity	GO:0022834	4.8
receptor binding	GO:0005102	2.43
substrate-specific channel activity	GO:0022838	3.67
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32