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GRIN1 Gene

protein-coding   GIFtS: 71
GCID: GC09P140032

Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 1

(Previous name: N-methyl-D-aspartate receptor subunit NR1)
(Previous symbol: NMDAR1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 11 2     MRD82 5
NMDAR11 2 3 5     NMDA12
N-Methyl-D-Aspartate Receptor Subunit NR11 2 3     NR12
Glutamate [NMDA] Receptor Subunit Zeta-12 3     Glutamate [NMDA] Receptor Subunit Zeta 12
GluN12 3     Glutamate Receptor Ionotropic, NMDA 12
NMD-R12 3     N-Methyl-D-Aspartate Receptor Channel, Subunit Zeta-12

External Ids:    HGNC: 45841   Entrez Gene: 29022   Ensembl: ENSG000001768847   OMIM: 1382495   UniProtKB: Q055863   

Export aliases for GRIN1 gene to outside databases

Previous GC identifers: GC09U990032 GC09P131724 GC09P133473 GC09P135390 GC09P137308 GC09P139152 GC09P109493


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GRIN1 Gene:
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. These subunits play a key role in the plasticity of synapses, which is believed to
underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms,
possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have
been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for GRIN1 Gene:
GRIN1 (glutamate receptor, ionotropic, N-methyl D-aspartate 1) is a protein-coding gene. Diseases associated with GRIN1 include mental retardation, autosomal dominant 8, and paine syndrome. GO annotations related to this gene include calmodulin binding and calcium ion binding. An important paralog of this gene is GRIN2C.

UniProtKB/Swiss-Prot: NMDZ1_HUMAN, Q05586
Function: NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and
voltage-dependent sensitivity to magnesium. Mediated by glycine. This protein plays a key role in synaptic
plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. It mediates neuronal functions in
glutamate neurotransmission. Is involved in the cell surface targeting of NMDA receptors (By similarity)

summary for GRIN1 Gene:
NMDA receptors are members of the ionotropic class of glutamate receptors, which also includes Kainate and
AMPA receptors. NMDA receptors consist of NR1 subunits combined with one or more NR2 (A-D) or NR3 (A-B)
subunits. The ligand-gated channel is permeable to cations including Ca2+, and at resting membrane
potentials NMDA receptors are inactive due to a voltage-dependent blockade of the channel pore by Mg2+. NMDA
receptor activation, which requires binding of glutamate and glycine, leads to an influx of Ca2+ into the
postsynaptic region where it activates several signaling cascades, including pathways leading to the
induction of long-term potentiation (LTP) and depression (LTD). NMDA receptors have a critical role in
excitatory synaptic transmission and plasticity in the CNS. They govern a range of physiological conditions
including neurological disorders caused by excitotoxic neuronal injury, psychiatric disorders and
neuropathic pain syndromes.

Gene Wiki entry for GRIN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GRIN1 gene promoter:
         AhR   Spz1   Lmo2   Tal-1beta   GATA-2   E47   PPAR-alpha   Zic1   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGRIN1 promoter sequence
   Search Chromatin IP Primers for GRIN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GRIN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

GRIN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRIN1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P140032:  view genomic region     (about GC identifiers)

Start:
140,032,842 bp from pter      End:
140,063,214 bp from pter
Size:
30,373 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NMDZ1_HUMAN, Q05586 (See protein sequence)
Recommended Name: Glutamate receptor ionotropic, NMDA 1 precursor  
Size: 938 amino acids; 105373 Da
Subunit: Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D)
and a third subunit (GRIN3A or GRIN3B); disulfide-linked. Found in a complex with GRIN2A or GRIN2B, GRIN3A or
GRIN3B and PPP2CB. Interacts with DLG4 and MPDZ. Interacts with SNX27 (via PDZ domain); the interaction is
required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes (By
similarity). Interacts with LRFN1 and LRFN2 (By similarity). Interacts with MYZAP
3 PDB 3D structures from and Proteopedia for GRIN1:
2HQW (3D)        2NR1 (3D)        3BYA (3D)    
Secondary accessions: A6NLK7 A6NLR1 C9K0X1 P35437 Q12867 Q12868 Q5VSF3 Q5VSF4 Q5VSF5 Q5VSF6
Q5VSF7 Q5VSF8 Q9UPF8 Q9UPF9
Alternative splicing: 7 isoforms:  Q05586-1   Q05586-2   Q05586-3   Q05586-4   Q05586-5   Q05586-6   Q05586-7   

Explore the universe of human proteins at neXtProt for GRIN1: NX_Q05586

Explore proteomics data for GRIN1 at MOPED

Post-translational modifications: 

  • NMDA is probably regulated by C-terminal phosphorylation of an isoform of NR1 by PKC. Dephosphorylated on Ser-897
    probably by protein phosphatase 2A (PPP2CB). Its phosphorylated state is influenced by the formation of the
    NMDAR-PPP2CB complex and the NMDAR channel activity1
  • Glycosylation2 at Asn61, Asn203, Asn239, Asn276, Asn300, Asn350, Asn368, Asn440, Asn471, Asn491
  • Modification sites at PhosphoSitePlus

  • See GRIN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_000823.4  NP_001172019.1  NP_001172020.1  NP_015566.1  NP_067544.1  

    ENSEMBL proteins: 
     ENSP00000360616   ENSP00000316915   ENSP00000360605   ENSP00000360601   ENSP00000360610  
     ENSP00000360608   ENSP00000360614   ENSP00000360615   ENSP00000316696  
    Reactome Protein details: Q05586

    GRIN1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for GRIN1
    OriGene Protein Over-expression Lysate for GRIN1
    OriGene MassSpec for GRIN1
    OriGene Custom Protein Services for GRIN1
    GenScript Custom Purified and Recombinant Proteins Services for GRIN1
    Novus Biologicals GRIN1 Proteins
    Novus Biologicals GRIN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GRIN1

    GRIN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GRIN1
    R&D Systems Antibodies for GRIN1 (NMDA R, NR1 Subunit)
    Cell Signaling Technology (CST) Antibodies for GRIN1  (NMDAR1)
    OriGene Antibodies for GRIN1
    OriGene Custom Antibody Services for GRIN1
    Novus Biologicals GRIN1 Antibodies
    Search for Antibodies for GRIN1 at Abcam
    Cloud-Clone Corp. Antibodies for GRIN1
    ThermoFisher Antibody for GRIN1
    LSBio Antibodies in human, mouse, rat for GRIN1

    GRIN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GRIN1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GRIN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GRIN1
    Cloud-Clone Corp. CLIAs for GRIN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GRI: Ligand-gated ion channels / Glutamate receptors, ionotropic
    GR: Glutamate receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: GluN1
    Ionotropic glutamate receptors

    Selected InterPro protein domains (see all 7):
     IPR028082 Peripla_BP_I
     IPR019594 Glu_rcpt_Glu/Gly-bd
     IPR001638 SBP_bac_3
     IPR001320 Iontro_glu_rcpt
     IPR001828 ANF_lig-bd_rcpt

    Graphical View of Domain Structure for InterPro Entry Q05586

    ProtoNet protein and cluster: Q05586

    3 Blocks protein domains:
    IPB001320 Ionotropic glutamate receptor
    IPB001508 NMDA receptor signature
    IPB001828 Extracellular ligand-binding receptor


    UniProtKB/Swiss-Prot: NMDZ1_HUMAN, Q05586
    Similarity: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily


    GRIN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NMDZ1_HUMAN, Q05586
    Function: NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and
    voltage-dependent sensitivity to magnesium. Mediated by glycine. This protein plays a key role in synaptic
    plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. It mediates neuronal functions in
    glutamate neurotransmission. Is involved in the cell surface targeting of NMDA receptors (By similarity)

         Genatlas biochemistry entry for GRIN1:
    N-methyl D-aspartate receptor 1,zeta 1subunit glutamate receptor,ubiquitously expressed in all CNS
    neurons,hippocampal pyramidal cells and neocortex,basal ganglia,mesencephalic dopaminergic neurons,throughout
    development and in adult brain,playing a central role in verbal memory and cognitive function

         Gene Ontology (GO): Selected molecular function terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004970ionotropic glutamate receptor activity ----
    GO:0004972contributes to N-methyl-D-aspartate selective glutamate receptor activity IDA7679115
    GO:0005102receptor binding ----
    GO:0005215transporter activity ----
    GO:0005234extracellular-glutamate-gated ion channel activity IBA--
         
    GRIN1 for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 24 alleles(MGI details for Grin1):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  hearing/vestibular/ear 
     homeostasis/metabolism  mortality/aging  nervous system  no phenotypic analysis  normal 
     reproductive system  respiratory system  vision/eye 

    GRIN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GRIN1: Grin1tm1Nak Grin1tm2.1Stl Grin1tm1.1Rpa Grin1tm1Cur Grin1tm1Stl Grin1tm2Slab

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GRIN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GRIN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GRIN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GRIN1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat GRIN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GRIN1 (see all 44):
    hsa-miR-582-3p hsa-miR-3194-5p hsa-miR-642a hsa-miR-330-5p hsa-miR-15a hsa-miR-624 hsa-miR-632 hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidGRIN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GRIN1
    Predesigned siRNA for gene silencing in human, mouse, rat GRIN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GRIN1

    Clone
    Products:
         
    OriGene clones in human, mouse for GRIN1 (see all 27)
    OriGene ORF clones in mouse, rat for GRIN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): GRIN1 (NM_007327)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GRIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GRIN1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GRIN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for GRIN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRIN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NMDZ1_HUMAN, Q05586: Cell membrane; Multi-pass membrane protein (By similarity). Cell junction, synapse,
    postsynaptic cell membrane (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic
    density (By similarity). Note=Enriched in postsynaptic plasma membrane and postsynaptic densities (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA7685113
    GO:0008021synaptic vesicle ISS--

    GRIN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GRIN1 About   (see all 29)  
    See pathways by source

    SuperPathContained pathways About
    1Post NMDA receptor activation events
    Post NMDA receptor activation events0.90
    Ras activation uopn Ca2+ infux through NMDA receptor0.00
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.90
    Unblocking of NMDA receptor, glutamate binding and activation0.00
    CREB phosphorylation through the activation of Ras0.78
    CREB phosphorylation through the activation of CaMKII0.00
    Long-term potentiation0.35
    2Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    3Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Pathogenesis of ALS0.31
    4Glutamic acid signaling
    Glutamic acid signaling
    Synaptic Neurotransmission: Glutamatergic Excitation0.00
    5Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GRIN1
        Synaptic Neurotransmission: Glutamatergic Excitation

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GRIN1 (see all 8)
        Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Pathogenesis of ALS
    Transcriptional Regulatory Network in Embryonic Stem Cell
    Intracellular Calcium Signaling
    Huntington's Disease Pathway

    1 Cell Signaling Technology (CST) Pathway for GRIN1
        Neuroscience

    3 GeneGo (Thomson Reuters) Pathways for GRIN1
        Signal transduction Erk Interactions- Inhibition of Erk
    Neurophysiological process PGE2-induced pain processing
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

    5 BioSystems Pathways for GRIN1
        Hypothetical Network for Drug Addiction
    SIDS Susceptibility Pathways
    BDNF signaling pathway
    Spinal Cord Injury
    Alzheimers Disease

    3 Reactome Pathways for GRIN1
        Ras activation uopn Ca2+ infux through NMDA receptor
    Unblocking of NMDA receptor, glutamate binding and activation
    CREB phosphorylation through the activation of CaMKII


    Selected Kegg Pathways  (Kegg details for GRIN1) (see all 14):
        Ras signaling pathway
    Rap1 signaling pathway
    Calcium signaling pathway
    Neuroactive ligand-receptor interaction
    Circadian entrainment


    GRIN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GRIN1 (see all 6): 
              Neurotransmitter Receptors in human mouse rat
              Neurogenesis in human mouse rat
              GABA & Glutamate in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Neurotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GRIN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GRIN1 (Q055861, 2, 3 ENSP000003606164) via UniProtKB, MINT, STRING, and/or I2D (see all 268)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=2 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=2 
    ENSG00000215328P081073I2D: score=2 
    ENSG00000224501P081073I2D: score=2 
    ENSG00000231555P081073I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 56):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001661conditioned taste aversion IEA--
    GO:0001964startle response ----
    GO:0001967suckling behavior IEA--
    GO:0001975response to amphetamine IEA--
    GO:0006810transport ----

    GRIN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GRIN1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DL-AP5 Sodium saltSodium salt of DL-AP5 (Cat. No. 0105)[1303993-72-7]
    (+)-MK 801 maleate Non-competitive NMDA antagonist, acts at ion channel site [77086-22-7]
    D-AP5 Potent, selective NMDA antagonist. More active form of DL-AP5 (Cat. No. 0105) [79055-68-8]
    QNZ 46NR2C/NR2D-selective NMDA receptor non-competitive antagonist[1237744-13-6]
    DL-AP5 Potent, selective NMDA antagonist [76326-31-3]

    3 HMDB Compounds for GRIN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    MagnesiumMagnesium (see all 2)7439-95-4--

    8 DrugBank Compounds for GRIN1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cycloleucine1-Amino-1-cyclopentanecarboxylic acid (see all 8)52-52-8target--2843389 10592235 2556198 2170997
    D-Serine-- 312-84-5target--17139284 17016423 10592235
    OrphenadrineMephenamine (see all 7)83-98-7targetantagonist17139284 17016423 8788072
    Agmatine-- 306-60-5targetantagonist9918557
    Dcka, 5,7-Dichlorokynurenic Acid-- --target--10592235
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17662248
    Meperidine-- 57-42-1targetantagonist10735801
    Milnacipran(-)-milnacipran (see all 4)92623-85-3targetinhibitor22716121

    Selected IUPHAR Ligands for GRIN1 (GluN1) (see all 20)    About this table
    LigandTypeActionAffinityPubmed IDs
    [3H]CGP39653
    NoneNone--
    D-aspartate
    AgonistAgonist--
    L701324
    AntagonistAntagonist--
    glycine
    AgonistAgonist--
    5,7-dichlorokynurenic acid
    AntagonistAntagonist--
    D-serine
    AgonistAgonist--
    [3H]glycine
    NoneNone--
    [3H]MDL105519
    NoneNone--
    homoquinolinic acid
    AgonistPartial agonist--
    (RS)-(tetrazol-5-yl)glycine
    AgonistFull agonist--

    Selected Novoseek inferred chemical compound relationships for GRIN1 gene (see all 36)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nmda 92.1 427 10217274 (5), 16573586 (4), 12777268 (4), 9038213 (3) (see all 99)
    glutamate 80.9 93 19422642 (10), 7666058 (3), 9832144 (3), 11793164 (2) (see all 59)
    kainate 64.9 14 10235640 (2), 18462708 (2), 9348349 (1), 9674563 (1) (see all 11)
    alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid 60.5 2 9674563 (1), 12654500 (1)
    phencyclidine 48.2 1 11109007 (1)
    gaba 41.2 12 19602553 (3), 9674563 (1), 8982809 (1), 9618545 (1) (see all 5)
    ethanol 26.6 42 12824058 (4), 16573586 (4), 12853299 (4), 16179537 (4) (see all 13)
    calcium 25.9 18 10217274 (4), 9674563 (1), 10619662 (1), 18796005 (1) (see all 10)
    magnesium 18.8 4 9490808 (3), 16372011 (1)
    dopamine 18.4 7 15952869 (1), 16272960 (1), 14969737 (1), 15190099 (1)



    GRIN1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for GRIN1 gene (5 alternative transcripts): 
    NM_000832.6  NM_001185090.1  NM_001185091.1  NM_007327.3  NM_021569.3  

    Unigene Cluster for GRIN1:

    Glutamate receptor, ionotropic, N-methyl D-aspartate 1
    Hs.558334  [show with all ESTs]
    Unigene Representative Sequence: L13266
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371561(uc004clk.3 uc004cll.3) ENST00000471122(uc004cli.1 uc004clj.1)
    ENST00000350902 ENST00000371550 ENST00000371546 ENST00000371555 ENST00000371553
    ENST00000371559 ENST00000371560 ENST00000485413 ENST00000460273 ENST00000473811
    ENST00000462584 ENST00000315048(uc004cln.3 uc004clo.3 uc004clm.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GRIN1 (see all 44):
    hsa-miR-582-3p hsa-miR-3194-5p hsa-miR-642a hsa-miR-330-5p hsa-miR-15a hsa-miR-624 hsa-miR-632 hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidGRIN1 3' UTR sequence
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    OriGene ORF clones in mouse, rat for GRIN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): GRIN1 (NM_007327)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GRIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GRIN1
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      QuantiFast Probe-based Assays in human, mouse, rat GRIN1

    Additional mRNA sequence: 

    AB208918.1 AB208999.1 AF015730.1 AF015731.1 D13515.1 L05666.1 L13266.1 L13267.1 
    L13268.1 S57708.1 U08106.1 U08107.1 

    9 DOTS entries:

    DT.100776120  DT.70101952  DT.75121435  DT.75173485  DT.92461034  DT.100756689  DT.85104417  DT.92461039 
    DT.40109790 

    Selected AceView cDNA sequences (see all 95):

    R18939 L13267 BI793090 U08106 BM723217 BX463601 L13268 CK821013 
    L05666 BM710034 AW135752 D13515 CD609617 T28896 BX114532 NM_021569 
    BM548455 BM713383 BU728516 BM671187 BM728978 AI124765 BV200008 BM702272 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GRIN1 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a ·
    SP1:                                                                                                                                                            
    SP2:                          -                                                                                                                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                        -   
    SP5:                          -                                                                                                                                 

    ExUns: 21b ^ 22a · 22b ^ 23
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for GRIN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GRIN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCCAGCTG
    GRIN1 Expression
    About this image


    GRIN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Eye (Sensory Organs)
    GRIN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GRIN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.558334
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GRIN1 (see all 6): 
              Neurotransmitter Receptors in human mouse rat
              Neurogenesis in human mouse rat
              GABA & Glutamate in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Neurotoxicity in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRIN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GRIN1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Grin11 , 5 glutamate receptor, ionotropic, NMDA1 (zeta 1)1, 5 90.33(n)1
    99(a)1
      2 (17.14 cM)5
    148101  NM_008169.21  NP_032195.11 
     252911815 
    chicken
    (Gallus gallus)
    Aves GRIN11 glutamate receptor, ionotropic, N-methyl D-aspartate more 83.56(n)
    94.54(a)
      404296  NM_206979.1  NP_996862.1 
    lizard
    (Anolis carolinensis)
    Reptilia GRIN16
    glutamate receptor, ionotropic, N-methyl D-asparta...
    91(a)
    1 ↔ 1
    GL343943.1(61895-112859)
    African clawed frog
    (Xenopus laevis)
    Amphibia NR12 unnamed 75.99(n)    X94081.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.283522 Transcribed sequence with moderate similarity to protein more 75.54(n)    57086016 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nmdar11 , 3 N-methyl-D-aspartate selective
    glutamate receptor3
    NMDA receptor 11
    47(a)3
    60.38(n)1
    50.48(a)1
      406651  NM_169059.21  NP_730940.11 
    worm
    (Caenorhabditis elegans)
    Secernentea nmr-11 , 3 Glutamate receptor3
    nmr-11
    35(a)3
    44.42(n)1
    37.32(a)1
      II(5440288-5446577)3
    1739291  NM_062632.51  NP_495033.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GLR51 GLR5 40.53(n)
    29.86(a)
      817801  NM_128799.3  NP_565744.1 


    ENSEMBL Gene Tree for GRIN1 (if available)
    TreeFam Gene Tree for GRIN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GRIN1 gene
    GRIN2C2  GRIN3A2  GRIN2B2  GRIN2D2  GRIN2A2  GRIN3B2  
    2 SIMAP similar genes for GRIN1 using alignment to 3 protein entries:     NMDZ1_HUMAN (see all proteins):
    GRIK3    GRID2

    GRIN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GRIN1 (see all 899)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0665984
    Mental retardation, autosomal dominant 8 (MRD8)4--see VAR_0665982 E K mis40--------
    rs1124348991,2
    C,F--140031719(+) GCAGAG/AATAAT 5 -- us2k14Minor allele frequency- A:0.10NA CSA WA 242
    rs1116112141,2
    C,F--140031735(+) TGTGGC/TCAATT 5 -- us2k14Minor allele frequency- T:0.10NA CSA WA 242
    rs1124216221,2
    C,F--140031920(+) TCAGGT/CCTACC 5 -- us2k13Minor allele frequency- C:0.06CSA WA 122
    rs1113037301,2
    F--140031958(+) CCTGAG/AGCGGA 5 -- us2k12Minor allele frequency- A:0.50CSA 4
    rs1389612871,2
    C--140031977(+) TTTTC-/TTTTTT 5 -- us2k10--------
    rs1177839071,2
    C,F--140031994(+) GGAGTG/TTTGCT 5 -- us2k12Minor allele frequency- T:0.07NA EA 240
    rs1816828301,2
    --140032005(+) CTGTCA/GCCCGG 5 -- us2k10--------
    rs1501187951,2
    --140032051(+) ACATCC/TGCCTC 5 -- us2k10--------
    rs1384225041,2
    --140032077(+) TCTCCC/TGCCTC 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for GRIN1 (140032842 - 140063214 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GRIN1 (see all 35):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739412CNV Deletion23290073
    esv1945349CNV Deletion18987734
    esv2739414CNV Deletion23290073
    esv1663270CNV Deletion17803354
    esv2739411CNV Deletion23290073
    esv1736918CNV Deletion17803354
    esv2422220CNV Deletion17116639
    esv2739413CNV Deletion23290073
    nsv894591CNV Loss21882294
    dgv8445n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): GRIN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GRIN1
    DNA2.0 Custom Variant and Variant Library Synthesis for GRIN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 138249   
    OMIM disorders: 614254  
    UniProtKB/Swiss-Prot: NMDZ1_HUMAN, Q05586
  • Mental retardation, autosomal dominant 8 (MRD8) [MIM:614254]: A disorder characterized by significantly
    below average general intellectual functioning associated with impairments in adaptive behavior and manifested
    during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for GRIN1 (see all 53):    
    About MalaCards
    mental retardation, autosomal dominant 8    paine syndrome    dysembryoplastic neuroepithelial tumor    tendinopathy
    focal epilepsy    mental retardation, autosomal dominant 10    amblyopia    pathological gambling
    ganglioglioma    morphine dependence    bipolar disorder    temporal lobe epilepsy
    drug addiction    sudden infant death syndrome    toxic encephalopathy    conduct disorder
    nicotine addiction    huntington's disease    mood disorder    obsessive-compulsive disorder

    1 disease from the University of Copenhagen DISEASES database for GRIN1:
    Schizophrenia

    GRIN1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for GRIN1 gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 58.6 62 11109007 (4), 12679240 (4), 12363394 (4), 18792810 (3) (see all 28)
    neuroepithelial tumors 58 1 11355310 (1)
    hypofunction 51.3 1 18296432 (1)
    ganglioglioma 47.2 2 11355310 (1), 7666058 (1)
    bipolar disorder 40.7 12 16969270 (4), 17284422 (3), 15952869 (1), 12610658 (1)
    ocular dominance 40.1 1 9547247 (1)
    epilepsy 38.4 9 7618442 (2), 11355310 (1), 10506512 (1), 15030493 (1) (see all 7)
    epilepsy temporal lobe 30.8 1 17919302 (1)
    huntington disease 26.6 2 9100675 (2)
    dysplasia 24.5 5 15030493 (1), 9761306 (1), 10612330 (1), 17899129 (1) (see all 5)

    Genetic Association Database (GAD): GRIN1
    Human Genome Epidemiology (HuGE) Navigator: GRIN1 (29 documents)

    Export disorders for GRIN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GRIN1 gene, integrated from 10 sources (see all 447):
    (articles sorted by number of sources associating them with GRIN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphism analysis of the upstream region of the human N-methyl-D-aspartate receptor subunit NR1 gene (GRIN1): implications for schizophrenia. (PubMed id 12363394)1, 4, 9 Tani A....Fukumaki Y. (Schizophr. Res. 2002)
    2. Mutation analysis of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) in schizophrenia. (PubMed id 11109007)1, 4, 9 Sakurai K....Arinami T. (Neurosci. Lett. 2000)
    3. An association study of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) and NR2B subunit gene (GRIN2B) in schizophrenia with universal DNA microarray. (PubMed id 15841096)1, 4, 9 Qin S....He L. (Eur. J. Hum. Genet. 2005)
    4. [An association study between GRIN1, BDNF genes and bipolar disorder]. (PubMed id 17284422)1, 4, 9 Liu M....Wang G. (Yi Chuan 2007)
    5. N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) in schizophrenia: TDT and case-control analyses. (PubMed id 12707933)1, 4, 9 Martucci L....Kennedy J.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2003)
    6. Cloning and structure of the gene encoding the human N-methyl-D- aspartate receptor (NMDAR1). (PubMed id 7622053)1, 2, 9 Zimmer M.... Spiess J. (Gene 1995)
    7. No association between genetic variants at the GRIN1 gene and bipolar disorder in a German sample. (PubMed id 16969270)1, 4, 9 Georgi A....Schulze T.G. (Psychiatr. Genet. 2006)
    8. GRIN1 locus may modify the susceptibility to seizures during alcohol withdrawal. (PubMed id 15635650)1, 4, 9 Rujescu D....Szegedi A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005)
    9. Association between the G1001C polymorphism in the GRIN1 gene promoter region and schizophrenia. (PubMed id 12679240)1, 4, 9 Begni S....Gennarelli M. (Biol. Psychiatry 2003)
    10. Regulation of NMDA receptor phosphorylation by alternative splicing of the C-terminal domain. (PubMed id 8316301)1, 2, 9 Tingley W.G.... Huganir R.L. (Nature 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2902 HGNC: 4584 AceView: GRIN1 Ensembl:ENSG00000176884 euGenes: HUgn2902
    ECgene: GRIN1 Kegg: 2902 H-InvDB: GRIN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GRIN1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/NMDA_receptor

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GRIN1 gene:
    Search GeneIP for patents involving GRIN1

    Licensable Technologies for GRIN1 gene:
     Tufts University:  Treatment of Obsessive-Compulsive Disorder and Compulsive Disorders (including Over-Eating, Alcoholism & Smoking)
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