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GRIN1 (glutamate ionotropic receptor NMDA type subunit 1)

Identity

Alias_namesNMDAR1
N-methyl-D-aspartate receptor subunit NR1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Alias_symbol (synonym)GluN1
Other aliasMRD8
NMD-R1
NMDA1
NR1
HGNC (Hugo) GRIN1
LocusID (NCBI) 2902
Atlas_Id 46352
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 137139157 and ends at 137168762 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CDK5RAP2 (9q33.2) / GRIN1 (9q34.3)EHMT1 (9q34.3) / GRIN1 (9q34.3)GRIN1 (9q34.3) / CACNA1B (9q34.3)
GRIN1 (9q34.3) / GRIN1 (9q34.3)STX1B (16p11.2) / GRIN1 (9q34.3)CDK5RAP2 9q33.2 / GRIN1 9q34.3
EHMT1 9q34.3 / GRIN1 9q34.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GRIN1   4584
Cards
Entrez_Gene (NCBI)GRIN1  2902  glutamate ionotropic receptor NMDA type subunit 1
AliasesGluN1; MRD8; NMD-R1; NMDA1; 
NMDAR1; NR1
GeneCards (Weizmann)GRIN1
Ensembl hg19 (Hinxton)ENSG00000176884 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176884 [Gene_View]  chr9:137139157-137168762 [Contig_View]  GRIN1 [Vega]
ICGC DataPortalENSG00000176884
TCGA cBioPortalGRIN1
AceView (NCBI)GRIN1
Genatlas (Paris)GRIN1
WikiGenes2902
SOURCE (Princeton)GRIN1
Genetics Home Reference (NIH)GRIN1
Genomic and cartography
GoldenPath hg38 (UCSC)GRIN1  -     chr9:137139157-137168762 +  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GRIN1  -     9q34.3   [Description]    (hg19-Feb_2009)
EnsemblGRIN1 - 9q34.3 [CytoView hg19]  GRIN1 - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBIGRIN1 [Mapview hg19]  GRIN1 [Mapview hg38]
OMIM138249   614254   
Gene and transcription
Genbank (Entrez)AB208918 AB208999 AF015730 AF015731 BC156097
RefSeq transcript (Entrez)NM_000832 NM_001185090 NM_001185091 NM_007327 NM_021569
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GRIN1
Cluster EST : UnigeneHs.558334 [ NCBI ]
CGAP (NCI)Hs.558334
Alternative Splicing GalleryENSG00000176884
Gene ExpressionGRIN1 [ NCBI-GEO ]   GRIN1 [ EBI - ARRAY_EXPRESS ]   GRIN1 [ SEEK ]   GRIN1 [ MEM ]
Gene Expression Viewer (FireBrowse)GRIN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2902
GTEX Portal (Tissue expression)GRIN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05586   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ05586  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05586
Splice isoforms : SwissVarQ05586
PhosPhoSitePlusQ05586
Domains : Interpro (EBI)ANF_lig-bd_rcpt    CaM-bd_C0_NMDA_rcpt_NR1    Glu/Gly-bd    Iono_rcpt_met    Iontro_rcpt    Peripla_BP_I   
Domain families : Pfam (Sanger)ANF_receptor (PF01094)    CaM_bdg_C0 (PF10562)    Lig_chan (PF00060)    Lig_chan-Glu_bd (PF10613)   
Domain families : Pfam (NCBI)pfam01094    pfam10562    pfam00060    pfam10613   
Domain families : Smart (EMBL)Lig_chan-Glu_bd (SM00918)  PBPe (SM00079)  
Conserved Domain (NCBI)GRIN1
DMDM Disease mutations2902
Blocks (Seattle)GRIN1
PDB (SRS)2HQW    2NR1    3BYA    5H8F    5H8H    5H8N    5H8Q    5I2K    5I2N    5KCJ    5KDT    5TP9    5TPA   
PDB (PDBSum)2HQW    2NR1    3BYA    5H8F    5H8H    5H8N    5H8Q    5I2K    5I2N    5KCJ    5KDT    5TP9    5TPA   
PDB (IMB)2HQW    2NR1    3BYA    5H8F    5H8H    5H8N    5H8Q    5I2K    5I2N    5KCJ    5KDT    5TP9    5TPA   
PDB (RSDB)2HQW    2NR1    3BYA    5H8F    5H8H    5H8N    5H8Q    5I2K    5I2N    5KCJ    5KDT    5TP9    5TPA   
Structural Biology KnowledgeBase2HQW    2NR1    3BYA    5H8F    5H8H    5H8N    5H8Q    5I2K    5I2N    5KCJ    5KDT    5TP9    5TPA   
SCOP (Structural Classification of Proteins)2HQW    2NR1    3BYA    5H8F    5H8H    5H8N    5H8Q    5I2K    5I2N    5KCJ    5KDT    5TP9    5TPA   
CATH (Classification of proteins structures)2HQW    2NR1    3BYA    5H8F    5H8H    5H8N    5H8Q    5I2K    5I2N    5KCJ    5KDT    5TP9    5TPA   
SuperfamilyQ05586
Human Protein AtlasENSG00000176884
Peptide AtlasQ05586
HPRD15926
IPIIPI00013915   IPI00335571   IPI00011989   IPI00470730   IPI00470731   IPI00647309   IPI00646891   IPI00465228   IPI00789973   
Protein Interaction databases
DIP (DOE-UCLA)Q05586
IntAct (EBI)Q05586
FunCoupENSG00000176884
BioGRIDGRIN1
STRING (EMBL)GRIN1
ZODIACGRIN1
Ontologies - Pathways
QuickGOQ05586
Ontology : AmiGOMAPK cascade  conditioned taste aversion  suckling behavior  response to amphetamine  NMDA glutamate receptor activity  Ras guanyl-nucleotide exchange factor activity  receptor binding  extracellular-glutamate-gated ion channel activity  calcium channel activity  calcium ion binding  protein binding  calmodulin binding  endoplasmic reticulum  plasma membrane  integral component of plasma membrane  cation transport  cellular calcium ion homeostasis  respiratory gaseous exchange  long-term memory  synaptic vesicle  adult locomotory behavior  olfactory learning  visual learning  cell surface  postsynaptic density  glycine binding  glycine binding  glutamate binding  NMDA selective glutamate receptor complex  propylene metabolic process  sensory perception of pain  pons maturation  cerebral cortex development  cell junction  dendrite  regulation of ion transmembrane transport  social behavior  ionotropic glutamate receptor signaling pathway  synaptic transmission, glutamatergic  neurotransmitter binding  regulation of membrane potential  neuron projection  positive regulation of apoptotic process  synaptic cleft  terminal bouton  dendritic spine  response to morphine  negative regulation of neuron apoptotic process  positive regulation of GTPase activity  regulation of respiratory gaseous exchange  synapse  postsynaptic membrane  response to ethanol  positive regulation of transcription from RNA polymerase II promoter  ephrin receptor signaling pathway  regulation of long-term neuronal synaptic plasticity  regulation of dendrite morphogenesis  regulation of axonogenesis  regulation of synapse assembly  calcium ion homeostasis  excitatory synapse  excitatory postsynaptic potential  prepulse inhibition  male mating behavior  calcium ion transmembrane transport  postsynaptic density membrane  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  positive regulation of excitatory postsynaptic potential  
Ontology : EGO-EBIMAPK cascade  conditioned taste aversion  suckling behavior  response to amphetamine  NMDA glutamate receptor activity  Ras guanyl-nucleotide exchange factor activity  receptor binding  extracellular-glutamate-gated ion channel activity  calcium channel activity  calcium ion binding  protein binding  calmodulin binding  endoplasmic reticulum  plasma membrane  integral component of plasma membrane  cation transport  cellular calcium ion homeostasis  respiratory gaseous exchange  long-term memory  synaptic vesicle  adult locomotory behavior  olfactory learning  visual learning  cell surface  postsynaptic density  glycine binding  glycine binding  glutamate binding  NMDA selective glutamate receptor complex  propylene metabolic process  sensory perception of pain  pons maturation  cerebral cortex development  cell junction  dendrite  regulation of ion transmembrane transport  social behavior  ionotropic glutamate receptor signaling pathway  synaptic transmission, glutamatergic  neurotransmitter binding  regulation of membrane potential  neuron projection  positive regulation of apoptotic process  synaptic cleft  terminal bouton  dendritic spine  response to morphine  negative regulation of neuron apoptotic process  positive regulation of GTPase activity  regulation of respiratory gaseous exchange  synapse  postsynaptic membrane  response to ethanol  positive regulation of transcription from RNA polymerase II promoter  ephrin receptor signaling pathway  regulation of long-term neuronal synaptic plasticity  regulation of dendrite morphogenesis  regulation of axonogenesis  regulation of synapse assembly  calcium ion homeostasis  excitatory synapse  excitatory postsynaptic potential  prepulse inhibition  male mating behavior  calcium ion transmembrane transport  postsynaptic density membrane  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  positive regulation of excitatory postsynaptic potential  
Pathways : BIOCARTASynaptic Proteins at the Synaptic Junction [Genes]    Nitric Oxide Signaling Pathway [Genes]    Erythropoietin mediated neuroprotection through NF-kB [Genes]   
Pathways : KEGG   
NDEx NetworkGRIN1
Atlas of Cancer Signalling NetworkGRIN1
Wikipedia pathwaysGRIN1
Orthology - Evolution
OrthoDB2902
GeneTree (enSembl)ENSG00000176884
Phylogenetic Trees/Animal Genes : TreeFamGRIN1
HOVERGENQ05586
HOGENOMQ05586
Homologs : HomoloGeneGRIN1
Homology/Alignments : Family Browser (UCSC)GRIN1
Gene fusions - Rearrangements
Fusion : MitelmanCDK5RAP2/GRIN1 [9q33.2/9q34.3]  [t(9;9)(q33;q34)]  
Fusion : MitelmanEHMT1/GRIN1 [9q34.3/9q34.3]  [t(9;9)(q34;q34)]  
Fusion: TCGACDK5RAP2 9q33.2 GRIN1 9q34.3 LGG
Fusion: TCGAEHMT1 9q34.3 GRIN1 9q34.3 BRCA PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGRIN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GRIN1
dbVarGRIN1
ClinVarGRIN1
1000_GenomesGRIN1 
Exome Variant ServerGRIN1
ExAC (Exome Aggregation Consortium)GRIN1 (select the gene name)
Genetic variants : HAPMAP2902
Genomic Variants (DGV)GRIN1 [DGVbeta]
DECIPHERGRIN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGRIN1 
Mutations
ICGC Data PortalGRIN1 
TCGA Data PortalGRIN1 
Broad Tumor PortalGRIN1
OASIS PortalGRIN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGRIN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGRIN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GRIN1
DgiDB (Drug Gene Interaction Database)GRIN1
DoCM (Curated mutations)GRIN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GRIN1 (select a term)
intoGenGRIN1
Cancer3DGRIN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138249    614254   
Orphanet18028   
MedgenGRIN1
Genetic Testing Registry GRIN1
NextProtQ05586 [Medical]
TSGene2902
GENETestsGRIN1
Target ValidationGRIN1
Huge Navigator GRIN1 [HugePedia]
snp3D : Map Gene to Disease2902
BioCentury BCIQGRIN1
ClinGenGRIN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2902
Chemical/Pharm GKB GenePA28978
Clinical trialGRIN1
Miscellaneous
canSAR (ICR)GRIN1 (select the gene name)
Probes
Litterature
PubMed194 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGRIN1
EVEXGRIN1
GoPubMedGRIN1
iHOPGRIN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:36:00 CEST 2017

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