Details for: GRIN1

Gene ID: 2902

Symbol: GRIN1

Ensembl ID: ENSG00000176884

Description: glutamate ionotropic receptor NMDA type subunit 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 111.5345
    Cell Significance Index: -28.2900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 26.9392
    Cell Significance Index: -25.7200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 4.6428
    Cell Significance Index: 132.4900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 3.0198
    Cell Significance Index: 37.4600
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.9544
    Cell Significance Index: 22.6600
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 2.8608
    Cell Significance Index: 37.1000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.6807
    Cell Significance Index: 537.7500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.6752
    Cell Significance Index: 118.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.5991
    Cell Significance Index: 932.2600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.4909
    Cell Significance Index: 152.7200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.3778
    Cell Significance Index: 90.0400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.3413
    Cell Significance Index: 157.4300
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.9258
    Cell Significance Index: 25.6900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.0404
    Cell Significance Index: 22.7800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.9535
    Cell Significance Index: 659.5100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.9157
    Cell Significance Index: 48.0800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.7534
    Cell Significance Index: 18.2500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.7426
    Cell Significance Index: 23.7900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.7361
    Cell Significance Index: 140.0800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6039
    Cell Significance Index: 59.7400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3942
    Cell Significance Index: 355.9200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3356
    Cell Significance Index: 20.6300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2632
    Cell Significance Index: 4.5100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1848
    Cell Significance Index: 30.0600
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.1419
    Cell Significance Index: 1.3500
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.1215
    Cell Significance Index: 1.3400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1163
    Cell Significance Index: 2.7900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0740
    Cell Significance Index: 2.6000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0565
    Cell Significance Index: 6.1500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0090
    Cell Significance Index: -0.2600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0130
    Cell Significance Index: -24.0000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0143
    Cell Significance Index: -26.8900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0157
    Cell Significance Index: -24.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0185
    Cell Significance Index: -25.1100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0206
    Cell Significance Index: -0.8900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0391
    Cell Significance Index: -29.6200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0412
    Cell Significance Index: -1.0300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0420
    Cell Significance Index: -31.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0444
    Cell Significance Index: -28.1900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0501
    Cell Significance Index: -28.2800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0571
    Cell Significance Index: -25.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0580
    Cell Significance Index: -31.6700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0626
    Cell Significance Index: -0.7800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0737
    Cell Significance Index: -21.2100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0774
    Cell Significance Index: -3.5100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0888
    Cell Significance Index: -4.1400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0974
    Cell Significance Index: -43.0700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1089
    Cell Significance Index: -7.5300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1247
    Cell Significance Index: -26.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1279
    Cell Significance Index: -23.0600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1292
    Cell Significance Index: -2.8000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1367
    Cell Significance Index: -1.6000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1522
    Cell Significance Index: -3.2300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1522
    Cell Significance Index: -30.2100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1549
    Cell Significance Index: -1.6900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1563
    Cell Significance Index: -3.0900
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.1572
    Cell Significance Index: -1.8800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1653
    Cell Significance Index: -28.2300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1662
    Cell Significance Index: -2.3800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1730
    Cell Significance Index: -1.6400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1778
    Cell Significance Index: -3.5700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1781
    Cell Significance Index: -10.6900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1885
    Cell Significance Index: -27.4000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1996
    Cell Significance Index: -24.5400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2153
    Cell Significance Index: -27.8200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2291
    Cell Significance Index: -4.9500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2363
    Cell Significance Index: -32.4500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2482
    Cell Significance Index: -28.4400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2589
    Cell Significance Index: -30.5400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2670
    Cell Significance Index: -3.3700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2742
    Cell Significance Index: -28.5500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2770
    Cell Significance Index: -28.3000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2961
    Cell Significance Index: -9.4300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3114
    Cell Significance Index: -10.2000
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.3257
    Cell Significance Index: -4.1100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3388
    Cell Significance Index: -26.0000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3683
    Cell Significance Index: -7.6400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3768
    Cell Significance Index: -23.7500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3790
    Cell Significance Index: -28.2500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4712
    Cell Significance Index: -26.4400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.4801
    Cell Significance Index: -11.9800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4926
    Cell Significance Index: -25.6600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.5002
    Cell Significance Index: -58.2900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5010
    Cell Significance Index: -17.5500
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: -0.5120
    Cell Significance Index: -5.6900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5646
    Cell Significance Index: -12.0300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.5883
    Cell Significance Index: -27.6500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.5896
    Cell Significance Index: -16.4800
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.5992
    Cell Significance Index: -11.7200
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.6167
    Cell Significance Index: -5.0900
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.6401
    Cell Significance Index: -13.3600
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.6813
    Cell Significance Index: -13.4100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6990
    Cell Significance Index: -25.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.7394
    Cell Significance Index: -38.4100
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.8132
    Cell Significance Index: -10.8400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.8173
    Cell Significance Index: -25.8500
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.8400
    Cell Significance Index: -16.7500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.8512
    Cell Significance Index: -29.5800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.8584
    Cell Significance Index: -22.0600
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.9125
    Cell Significance Index: -12.7600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **NMDA Receptor Subunit**: GRIN1 is a subunit of the NMDA receptor, which is composed of three subunits (NR1, NR2A-D, and NR3A). 2. **Glutamate Binding**: GRIN1 binds to glutamate, the primary excitatory neurotransmitter in the central nervous system. 3. **Ion Channel Activity**: The NMDA receptor, including GRIN1, forms a channel that allows the influx of calcium ions into the neuron, leading to excitatory postsynaptic potentials (EPSPs). 4. **Regulation of Synaptic Plasticity**: GRIN1 plays a crucial role in regulating synaptic plasticity, which is the ability of neurons to reorganize their connections in response to experience. **Pathways and Functions:** The GRIN1 gene is involved in various signaling pathways, including: 1. **Calcium-Mediated Signaling**: GRIN1 regulates calcium ion influx into the neuron, leading to the activation of downstream signaling pathways. 2. **MAPK1/Mapk3 Signaling**: GRIN1 activates the MAPK1/Mapk3 signaling cascade, which regulates cell survival, differentiation, and synaptic plasticity. 3. **Ras Activation**: GRIN1 activates Ras, a small GTPase that regulates cell signaling pathways, including those involved in synaptic plasticity. 4. **Neurotransmitter Receptor Signaling**: GRIN1 is involved in the regulation of neurotransmitter receptor signaling, including glutamate-gated calcium ion channel activity and excitatory postsynaptic potential. **Clinical Significance:** Dysregulation of the GRIN1 gene has been implicated in various neurological disorders, including: 1. **Alzheimer's Disease**: GRIN1 has been shown to be downregulated in Alzheimer's disease, leading to impaired synaptic plasticity and memory formation. 2. **Schizophrenia**: GRIN1 has been implicated in the pathophysiology of schizophrenia, with altered expression and function in schizophrenia patients. 3. **Neurodegenerative Diseases**: GRIN1 has been shown to be downregulated in various neurodegenerative diseases, including Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis (ALS). In conclusion, the GRIN1 gene plays a critical role in regulating synaptic plasticity, learning, and memory formation through its involvement in NMDA receptor signaling. Dysregulation of the GRIN1 gene has been implicated in various neurological disorders, highlighting the importance of this gene in maintaining normal brain function.

Genular Protein ID: 1749005387

Symbol: NMDZ1_HUMAN

Name: Glutamate receptor ionotropic, NMDA 1

UniProtKB Accession Codes:

Q05586 A6NLK7 A6NLR1 C9K0X1 P35437 Q12867 Q12868 Q5VSF3 Q5VSF4 Q5VSF5 Q5VSF6 Q5VSF7 Q5VSF8 Q9UPF8 Q9UPF9

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 5 CDD 2 CORUM 1 CTD 1 ChEBI 4 ChEMBL 1 ChiTaRS 1 ComplexPortal 5 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 31 DrugCentral 1 EMBL 14 EMDB 30 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 49 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 41 PDBsum 41 PIR 2 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 7 RNAct 1 Reactome 9 RefSeq 7 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8406025

Title: Cloning and sequence analysis of cDNAs encoding human hippocampus N-methyl-D-aspartate receptor subunits: evidence for alternative RNA splicing.

PubMed ID: 8406025

DOI: 10.1016/0378-1119(93)90309-q

PubMed ID: 7679115

Title: Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor.

PubMed ID: 7679115

DOI: 10.1016/s0021-9258(18)53754-6

PubMed ID: 7685113

Title: Molecular cloning, functional expression, and pharmacological characterization of an N-methyl-D-aspartate receptor subunit from human brain.

PubMed ID: 7685113

DOI: 10.1073/pnas.90.11.5057

PubMed ID: 7622053

Title: Cloning and structure of the gene encoding the human N-methyl-D-aspartate receptor (NMDAR1).

PubMed ID: 7622053

DOI: 10.1016/0378-1119(95)00044-7

PubMed ID: 9231706

Title: Cloning and localization of exon 5-containing isoforms of the NMDAR1 subunit in human and rat brains.

PubMed ID: 9231706

DOI: 10.1046/j.1471-4159.1997.69020485.x

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 7926821

Title: Cloning and sequence analysis of additional splice variants encoding human N-methyl-D-aspartate receptor (hNR1) subunits.

PubMed ID: 7926821

DOI: 10.1016/0378-1119(94)90089-2

PubMed ID: 7681588

Title: Inducible expression of neuronal glutamate receptor channels in the NT2 human cell line.

PubMed ID: 7681588

DOI: 10.1073/pnas.90.6.2174

PubMed ID: 8316301

Title: Regulation of NMDA receptor phosphorylation by alternative splicing of the C-terminal domain.

PubMed ID: 8316301

DOI: 10.1038/364070a0

PubMed ID: 18849881

Title: GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit and reduces N-methyl D-aspartate toxicity.

PubMed ID: 18849881

DOI: 10.1097/wnr.0b013e328317f05f

PubMed ID: 27458189

Title: Synaptonuclear messenger PRR7 inhibits c-Jun ubiquitination and regulates NMDA-mediated excitotoxicity.

PubMed ID: 27458189

DOI: 10.15252/embj.201593070

PubMed ID: 28126851

Title: Functional evaluation of a de novo GRIN2A mutation identified in a patient with profound global developmental delay and refractory epilepsy.

PubMed ID: 28126851

DOI: 10.1124/mol.116.106781

PubMed ID: 10201407

Title: Structures of the M2 channel-lining segments from nicotinic acetylcholine and NMDA receptors by NMR spectroscopy.

PubMed ID: 10201407

DOI: 10.1038/7610

PubMed ID: 26919761

Title: Discovery of GluN2A-Selective NMDA Receptor Positive Allosteric Modulators (PAMs): Tuning Deactivation Kinetics via Structure-Based Design.

PubMed ID: 26919761

DOI: 10.1021/acs.jmedchem.5b02010

PubMed ID: 26875626

Title: Positive Allosteric Modulators of GluN2A-Containing NMDARs with Distinct Modes of Action and Impacts on Circuit Function.

PubMed ID: 26875626

DOI: 10.1016/j.neuron.2016.01.016

PubMed ID: 28105280

Title: GluN2A-Selective Pyridopyrimidinone Series of NMDAR Positive Allosteric Modulators with an Improved in Vivo Profile.

PubMed ID: 28105280

DOI: 10.1021/acsmedchemlett.6b00388

PubMed ID: 21376300

Title: Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PubMed ID: 21376300

DOI: 10.1016/j.ajhg.2011.02.001

PubMed ID: 22833210

Title: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

PubMed ID: 22833210

DOI: 10.1038/tp.2011.52

PubMed ID: 25167861

Title: Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PubMed ID: 25167861

DOI: 10.1136/jmedgenet-2014-102554

PubMed ID: 25864721

Title: GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PubMed ID: 25864721

DOI: 10.1111/epi.12987

PubMed ID: 27164704

Title: Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PubMed ID: 27164704

DOI: 10.1212/wnl.0000000000002740

PubMed ID: 28051072

Title: Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

PubMed ID: 28051072

DOI: 10.1038/ejhg.2016.163

PubMed ID: 28389307

Title: De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PubMed ID: 28389307

DOI: 10.1016/j.ejmg.2017.04.001

PubMed ID: 28228639

Title: GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

PubMed ID: 28228639

DOI: 10.1038/jhg.2017.19

PubMed ID: 28095420

Title: Molecular mechanism of disease-associated mutations in the pre-M1 helix of NMDA receptors and potential rescue pharmacology.

PubMed ID: 28095420

DOI: 10.1371/journal.pgen.1006536

PubMed ID: 34611970

Title: A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy.

PubMed ID: 34611970

DOI: 10.1002/ajmg.a.62528

PubMed ID: 38538865

Title: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.

PubMed ID: 38538865

DOI: 10.1007/s00018-023-05069-z

Sequence Information:

  • Length: 938
  • Mass: 105373
  • Checksum: CDF5402769E530AB
  • Sequence:
    • MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN KRHGSWKIQL 
NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND HFTPTPVSYT AGFYRIPVLG 
LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV WFEMMRVYSW NHIILLVSDD HEGRAAQKRL 
ETLLEERESK AEKVLQFDPG TKNVTALLME AKELEARVII LSASEDDAAT VYRAAAMLNM 
TGSGYVWLVG EREISGNALR YAPDGILGLQ LINGKNESAH ISDAVGVVAQ AVHELLEKEN 
ITDPPRGCVG NTNIWKTGPL FKRVLMSSKY ADGVTGRVEF NEDGDRKFAN YSIMNLQNRK 
LVQVGIYNGT HVIPNDRKII WPGGETEKPR GYQMSTRLKI VTIHQEPFVY VKPTLSDGTC 
KEEFTVNGDP VKKVICTGPN DTSPGSPRHT VPQCCYGFCI DLLIKLARTM NFTYEVHLVA 
DGKFGTQERV NNSNKKEWNG MMGELLSGQA DMIVAPLTIN NERAQYIEFS KPFKYQGLTI 
LVKKEIPRST LDSFMQPFQS TLWLLVGLSV HVVAVMLYLL DRFSPFGRFK VNSEEEEEDA 
LTLSSAMWFS WGVLLNSGIG EGAPRSFSAR ILGMVWAGFA MIIVASYTAN LAAFLVLDRP 
EERITGINDP RLRNPSDKFI YATVKQSSVD IYFRRQVELS TMYRHMEKHN YESAAEAIQA 
VRDNKLHAFI WDSAVLEFEA SQKCDLVTTG ELFFRSGFGI GMRKDSPWKQ NVSLSILKSH 
ENGFMEDLDK TWVRYQECDS RSNAPATLTF ENMAGVFMLV AGGIVAGIFL IFIEIAYKRH 
KDARRKQMQL AFAAVNVWRK NLQDRKSGRA EPDPKKKATF RAITSTLASS FKRRRSSKDT 
STGGGRGALQ NQKDTVLPRR AIEREEGQLQ LCSRHRES

Genular Protein ID: 1130175979

Symbol: Q5VSF9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5VSF9 A6NED8 A6NGR6

Database IDs:

ARBA 18 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 2 GeneTree 1 HGNC 1 InterPro 8 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 2 Pfam 3 Proteomes 2 ProteomicsDB 2 RefSeq 1 RuleBase 1 SMART 4 SMR 1 SUPFAM 3 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 922
  • Mass: 103745
  • Checksum: B198F7F5A4A638EC
  • Sequence:
    • MSTMRLLTLA LLFSCSVARA ACDPKIVNIG AVLSTRKHEQ MFREAVNQAN KRHGSWKIQL 
NATSVTHKPN AIQMALSVCE DLISSQVYAI LVSHPPTPND HFTPTPVSYT AGFYRIPVLG 
LTTRMSIYSD KSIHLSFLRT VPPYSHQSSV WFEMMRVYSW NHIILLVSDD HEGRAAQKRL 
ETLLEERESK SKKRNYENLD QLSYDNKRGP KAEKVLQFDP GTKNVTALLM EAKELEARVI 
ILSASEDDAA TVYRAAAMLN MTGSGYVWLV GEREISGNAL RYAPDGILGL QLINGKNESA 
HISDAVGVVA QAVHELLEKE NITDPPRGCV GNTNIWKTGP LFKRVLMSSK YADGVTGRVE 
FNEDGDRKFA NYSIMNLQNR KLVQVGIYNG THVIPNDRKI IWPGGETEKP RGYQMSTRLK 
IVTIHQEPFV YVKPTLSDGT CKEEFTVNGD PVKKVICTGP NDTSPGSPRH TVPQCCYGFC 
IDLLIKLART MNFTYEVHLV ADGKFGTQER VNNSNKKEWN GMMGELLSGQ ADMIVAPLTI 
NNERAQYIEF SKPFKYQGLT ILVKKEIPRS TLDSFMQPFQ STLWLLVGLS VHVVAVMLYL 
LDRFSPFGRF KVNSEEEEED ALTLSSAMWF SWGVLLNSGI GEGAPRSFSA RILGMVWAGF 
AMIIVASYTA NLAAFLVLDR PEERITGIND PRLRNPSDKF IYATVKQSSV DIYFRRQVEL 
STMYRHMEKH NYESAAEAIQ AVRDNKLHAF IWDSAVLEFE ASQKCDLVTT GELFFRSGFG 
IGMRKDSPWK QNVSLSILKS HENGFMEDLD KTWVRYQECD SRSNAPATLT FENMAGVFML 
VAGGIVAGIF LIFIEIAYKR HKDARRKQMQ LAFAAVNVWR KNLQSTGGGR GALQNQKDTV 
LPRRAIEREE GQLQLCSRHR ES

Genular Protein ID: 2005595063

Symbol: Q59GW0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59GW0

Database IDs:

ARBA 16 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 3 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 3 RefSeq 2 RuleBase 1 SMART 4 SUPFAM 3

Sequence Information:

  • Length: 663
  • Mass: 73976
  • Checksum: 84A2BB8BD5C87CB6
  • Sequence:
    • RAPGTCGWSA SARSRGTPCA TPRTLINGKN ESAHISDAVG VVAQAVHELL EKENITDPPR 
GCVGNTNIWK TGPLFKRVLM SSKYADGVTG RVEFNEDGDR KFANYSIMNL QNRKLVQVGI 
YNGTHVIPND RKIIWPGGET EKPRGYQMST RLKIVTIHQE PFVYVKPTLS DGTCKEEFTV 
NGDPVKKVIC TGPNDTSPGS PRHTVPQCCY GFCIDLLIKL ARTMNFTYEV HLVADGKFGT 
QERVNNSNKK EWNGMMGELL SGQADMIVAP LTINNERAQY IKFSKPFKYQ GLTILVKKEI 
PRSTLDSFMQ PFQSTLWLLV GLSVHVVAVM LYLLDRFSPF GRFKVNSEEE EEDALTLSSA 
MWFSWGVLLN SGIGEGAPRS FSARILGMVW AGFAMIIVAS YTANLAAFLV LDRPEERITG 
INDPRLRNPS DKFIYATVKQ SSVDIYFRRQ VELSTMYRHM EKHNYESAAE AIQAVRDNKL 
HAFIWDSAVL EFEASQKCDL VTTGELFFRS GFGIGMRKDS PWKQNVSLSI LKSHENGFME 
DLDKTWVRYQ ECDSRSNAPA TLTFENMAGV FMLVAGGIVA GIFLIFIEIA YKRHKDARRK 
QMQLAFAAVN VWRKNLQVGQ ATLRGLVPRA RPGHGPPPSP KAVALALALV GRTGARSHGQ 
GQW

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.