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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
 Explore 48 diseases affiliated with
GRIN1 via our new
 Human Malady Compendium 
Biological research products
for GRIN1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 11 2     MRD82
NMDAR11 2 3 5     NMDA12
GluN11 2 3     NR12
N-Methyl-D-Aspartate Receptor Subunit NR11 2 3     Glutamate [NMDA] Receptor Subunit Zeta 12
Glutamate [NMDA] Receptor Subunit Zeta-12 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GRIN1:
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)

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:
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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_024000.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GRIN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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 (By similarity). Interacts with LRFN1 and LRFN2 (By similarity). Interacts with
MYZAP
Subcellular location: 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)
2 PDB 3D structures from and Proteopedia for GRIN1:
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

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 activity (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q05586

  • GRIN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Uscn Proteins for GRIN1

    Gene Ontology (GO): 5/20 cellular component terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IDA7685113
    GO:0008021synaptic vesicle ISS--


    GRIN1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GRIN1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR019594 Glu_rcpt_Glu/Gly-bd
     IPR001638 SBP_bac_3
     IPR001320 Iontro_glu_rcpt
     IPR001828 ANF_lig-bd_rcpt
     IPR001508 NMDA_rcpt

    Graphical View of Domain Structure for InterPro Entry Q05586

    ProtoNet protein and cluster: Q05586

    3 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

         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

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    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
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    Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    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:0005234extracellular-glutamate-gated ion channel activity IEA--
    GO:0005261cation channel activity ----


    GRIN1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for GRIN1: Grin1tm1Nak Grin1tm2.1Stl Grin1tm1.1Rpa Grin1tm1Cur Grin1tm1Stl Grin1tm2Slab
         13 MGI mutant phenotypes (inferred from 24 alleles(MGI details for Grin1):
     behavior/neurological  cardiovascular system  cellular  growth/size  hearing/vestibular/ear 
     homeostasis/metabolism  mortality/aging  nervous system  no phenotypic analysis  normal 
     reproductive system  respiratory system  vision/eye 

    GRIN1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/25 super-pathways (see all 25About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1CREB phosphorylation through the activation of CaMKII
    CREB phosphorylation through the activation of CaMKII1.00
    Unblocking of NMDA receptor, glutamate binding and activation0.68
    Ras activation uopn Ca2+ infux through NMDA receptor0.78
    2Post NMDA receptor activation events
    Post NMDA receptor activation events1.00
    CREB phosphorylation through the activation of Ras0.82
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.89
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses1.00
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Alzheimer's disease0.43
    Alzheimers Disease0.00
    Huntington's disease0.40
    5Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling1.00
    Neurophysiological process_Glutamate regulation of Dopamine D1A receptor signaling0.98

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5 EMD Millipore Pathways for GRIN1
        Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Glutamic acid signaling
    Signal transduction Erk Interactions- Inhibition of Erk
    Neurophysiological process PGE2-induced pain processing
    Calcium channels

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

    5/8 Downloadable PowerPoint Slides of QIAGEN 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

    3 BioSystems Pathways for GRIN1 
        SIDS Susceptibility Pathways
    Hypothetical Network for Drug Addiction
    Alzheimers Disease

    5/9        Reactome Pathways for GRIN1 (see all 9)
        Ras activation uopn Ca2+ infux through NMDA receptor
    Unblocking of NMDA receptor, glutamate binding and activation
    CREB phosphorylation through the activation of CaMKII
    Transmission across Chemical Synapses
    CREB phosphorylation through the activation of Ras


    5/7         Kegg Pathways  (Kegg details for GRIN1) (see all 7):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction
    Long-term potentiation
    Glutamatergic synapse
    Alzheimer's disease


    GRIN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GRIN1

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

    5/194 Interacting proteins for GRIN1 (Q055862, 3 ENSP000003606164) via UniProtKB, MINT, STRING, and/or I2D (see all 194)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783522, 3, ENSP000002938134MINT-1900350 I2D: score=5 STRING: ENSP00000293813
    CALM1P621583, ENSP000003494674I2D: score=5 STRING: ENSP00000349467
    CALM2P621583I2D: score=5 
    CALM3P621583I2D: score=5 
    HSPA1AP081073, ENSP000003648024I2D: score=2 STRING: ENSP00000364802
    About this table

    Gene Ontology (GO): 5/46 biological process terms (GO ID links to tree view) (see all 46):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001661conditioned taste aversion ----
    GO:0001964startle response ----
    GO:0001967suckling behavior ----
    GO:0001975response to amphetamine ----
    GO:0006812cation transport IDA7685113


    GRIN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GRIN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for GRIN1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (+)-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]
    NMDASelective NMDA agonist[6384-92-5]
    SDZ 220-581Competitive NMDA antagonist[174575-17-8]
    L-701,324 NMDA antagonist, acts glycine site [142326-59-8]

    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--

    6 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
    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

    10/36 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about GRIN1 / NMDZ1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    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)


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    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
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    Additional cDNA 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 

    24/95 AceView cDNA sequences (see all 95):

    CK821013 U08106 BI793090 L13267 BM723217 R18939 BM710034 BX463601 
    D13515 L13268 L05666 AW135752 R87721 BM672322 CD609617 AA351537 
    BM674129 BM715790 NM_000832 BM713383 T28896 BM728978 NM_021569 AF015731 

    GeneLoc Exon Structure

    5/9 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GRIN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCCCAGCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See GRIN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GRIN1

    SOURCE GeneReport for Unigene cluster: Hs.558334
        SABiosciences Expression via Pathway-Focused 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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    In Situ
    Assay Products:
     

     
    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GRIN1 gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    91(a)
    1 ↔ 1
    GL343943.1(64350-112646)
    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
    60.12(n)1
    49.88(a)1
      406651  NM_169059.11  NP_730940.11 
    worm
    (Caenorhabditis elegans)
    Secernentea nmr-11 , 3 Glutamate receptor3
    Protein NMR-11
    35(a)3
    43.28(n)1
    36.19(a)1
      II(5440288-5446577)3
    1739291  NM_062632.41  NP_495033.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GLR51 glutamate receptor 3.7 40.95(n)
    29.39(a)
      817801  NM_128799.3  NP_565744.1 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 22)
    glutamate receptor 2.8 precursor, putative, expres...
    glutamate receptor 2.8 precursor, putative, expres...
    (see all 22)
    16(a)
    16(a)
    (see all 22)
    many ↔ many
    many ↔ many
    (see all 22)
    6(4488430-4492931)
    6(4592690-4596979)


    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)
    About This Section
    Paralogs for GRIN1 gene
    GRIA32  GRIN2D2  GRIK12  GRIA22  GRIK22  GRIA12  GRIK42  GRIK32  
    GRIN3A2  GRIN2B2  GRIN2A2  GRIK52  GRIN3B2  GRIN2C2  GRIA42  GRID12  
    GRID22  
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/742 NCBI SNPs in GRIN1 are shown (see all 742    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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
    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,--140031967(+) TTTTC-/TTTTTT 5 -- us2k10--------
    rs1177839071,2
    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--------
    rs1863288061,2
    --140032157(+) GACAGG/TGTTTC 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for GRIN1 (140032842 - 140063214 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for GRIN1
         2 CNVs: 4663 5415
         4 Indels: 47676 13218 29105 29106
    Human Gene Mutation Database (HGMD): GRIN1

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    GRIN1 for disorders           About GeneDecksing

    OMIM gene information: 138249    OMIM disorders: --

    UniProtKB/Swiss-Prot: NMDZ1_HUMAN, Q05586
  • Defects in GRIN1 are the cause of mental retardation autosomal dominant type 8 (MRD8) [MIM:614254]. Mental
  • retardation is characterized by significantly below average general intellectual functioning associated with
    impairments in adaptative behavior and manifested during the developmental period

    20/48 diseases for GRIN1 (see all 48):    About MalaCards
    paine syndrome    sudden infant death syndrome    obsessive-compulsive disorder    dysembryoplastic neuroepithelial tumor
    amyotrophic lateral sclerosis (als)    focal cortical dysplasia    amyotrophic lateral sclerosis    temporal lobe epilepsy
    pathological gambling    lateral sclerosis    intractable epilepsy    ganglioglioma
    toxic encephalopathy    oral squamous cell carcinoma    focal epilepsy    anorexia nervosa
    intellectual disability    squamous cell carcinoma    bipolar disorder    alcohol dependence

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

    10/25 Novoseek 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)
    About This Section

    PubMed articles for GRIN1 gene, integrated from 9 sources (see all 434):
    (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. (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. (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. (2005)
    4. 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. (2003)
    5. 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. (1995)
    6. GRIN1 locus may modify the susceptibility to seizures during alcohol withdrawal. (PubMed id 15635650)1, 4, 9 Rujescu D....Szegedi A. (2005)
    7. Association between the G1001C polymorphism in the GRIN1 gene promoter region and schizophrenia. (PubMed id 12679240)1, 4, 9 Begni S....Gennarelli M. (2003)
    8. 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. (1993)
    9. Systematic screening for mutations in the human N-methyl-D-aspartate receptor 1 gene in schizophrenic patients from the German population. (PubMed id 15564900)1, 4, 9 Paus S....Nothen M.M. (2004)
    10. Alteration of branch site consensus sequence and enhanced pre-mRNA splicing of an NMDAR1 intron not associated with schizophrenia. (PubMed id 12210277)1, 4, 9 Hammond L....Sobell J.L. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2902 HGNC: 4584 AceView: GRIN1 Ensembl:ENSG00000176884 euGenes: HUgn2902
    ECgene: GRIN1 Kegg: 2902 H-InvDB: GRIN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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)
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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