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FLASH GENE
Symbol GRIN1 contributors: mct - updated : 21-10-2015
HGNC name glutamate receptor, ionotropic, N-methyl D-aspartate 1
HGNC id 4584
Corresponding disease
MRD8 mental retardation, autosomal dominant 8
Location 9q34.3      Physical location : 140.033.608 - 140.063.214
Synonym name
  • glutamate receptor, ionotropic, NMDA class 1
  • N-methyl-D-aspartate receptor channel, subunit zeta-1
  • N-methyl-D-aspartate receptor subunit NR1
  • Synonym symbol(s) NMDAR1, NR1, NMDA1, NMD-R1, GluN1, MRD8, NMD-R1
    DNA
    TYPE functioning gene
    STRUCTURE 29.61 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure two DNA binding sites for the homes proteins "even-skipped" (EVX1 and EVX2) in the promoter
    MAPPING cloned Y linked Y status confirmed
    Physical map
    MGC20262 9q34.3 hypothetical protein MGC20262 MGC16037 9q34.3 hypothetical protein MGC16037 LCN6 9q34.3 lipocalin 6 LOC138307 LOC389812 LOC392401 9 similar to vacuolar H(+)-ATPase subunit; V-ATPase subunit; M16 MGC14141 9q34.3 hypothetical protein MGC14141 MGC15438 9q34.3 hypothetical protein MGC15438 FLJ10101 9q34.3 FLJ10101 protein LOC389813 9 similar to ENSANGP00000006371 PHP14 9q34.3 phosphohistidine phosphatase AEGP 9q34.3 apical early endosomal glycoprotein precursor EDF1 9q34.3 endothelial differentiation-related factor 1 TRAF2 9q34 TNF receptor-associated factor 2 FBXW5 9q34.3 F-box and WD-40 domain protein 5 C8G 9q22.33-q32 complement component 8, gamma polypeptide MGC48935 9q34.3 hypothetical protein MGC48935 LOC203235 9q34.3 hypothetical LOC203235 PTGDS 9q34.2-q34.3 prostaglandin D2 synthase 21kDa (brain) LOC286257 9q34.3 hypothetical protein LOC286257 CLIC3 9q34.3 chloride intracellular channel 3 ABCA2 9q34.3 ATP-binding cassette, sub-family A (ABC1), member 2 FUT7 9q34.3 fucosyltransferase 7 (alpha (1,3) fucosyltransferase) LOC389814 9 similar to LPAL6438 NPDC1 9q34.3 neural proliferation, differentiation and control, 1 ENTPD2 9q34 ectonucleoside triphosphate diphosphohydrolase 2 LOC89958 9q34.3 hypothetical protein LOC89958 LOC91373 MAN1B1 9q34 mannosidase, alpha, class 1B, member 1 DPP7 9q34.3 dipeptidylpeptidase 7 LOC389815 9 LOC389815 GRIN1 9q34.3 glutamate receptor, ionotropic, N-methyl D-aspartate 1 LOC389816 9 similar to CDNA sequence BC004853 LOC389817 9 LOC389817 ANAPC2 9q34.3 LOC389817 SSNA1 9q34.3 Sjogren's syndrome nuclear autoantigen 1 C9orf75 9q34.3 chromosome 9 open reading frame 75 MGC14327 9q34.3 hypothetical protein MGC14327 NELF 9q34.3 nasal embryonic luteinizing hormone-releasing hormone factor FLJ43070 9q34.3 FLJ43070 protein
    regionally located linked to D9S7
    RNA
    TRANSCRIPTS type messenger
    text alternative splicing producing isoforms differing in the C terminus
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 splicing 4400 105.4 938 neurons 2000 10762714
    19 splicing 3926 99.1 885 neurons 2000 10762714
  • also called NR1-1
  • missing exon 20 and alternatively spliced in exon 21
  • 19 splicing 4289 100.9 901 neurons 2000 10762714
  • also called NR1-2
  • missing exon 20 and spliced in exon 21
  • sensitive to deglycosylation by endoglycosidase H
  • 21 splicing 5137 105.4 938 neurons 2000 10762714
    including all 21 exons with alternative splicing in exon 21
    20 splicing 3989 101.5 906 neurons 2000 10762714
    also called NR1-3b
    - splicing 3121 105.6 943 neurons 2000 10762714
    21 - 4100 105.6 943 neurons 2000 10762714
  • also called NR1-4a
  • sensitive to deglycosylation by endoglycosidase H
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex highly Homo sapiens
     brainhindbraincerebellum highly
     braindiencephalonhypothalamussuprachiasmatic nucleihighly Homo sapiens
     brainbasal nuclei   
     nervecranial nerve   
    Visualeyeretina    Rattus norvegicus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    Nervousoligodendrocyte
    NervousSchawnn cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transmembrane segments (4TM)
  • a long extracellular domain
  • twofold symmetry axis running through the entire molecule composed of an N terminal domain (ATD), a ligand-binding domain (LBD), and a transmembrane domain (TMD)
  • critical role of the single AA within the GRIN1 M4 domain in the surface delivery of functional NMDA receptors
  • conjugated GlycoP , PhosphoP
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Grin1
    homolog to C.elegans F07f6.6
    Homologene
    FAMILY
  • ligand-gated ionic channels family
  • glutamate-regulated superfamily of ion channels
  • CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text post-synaptic membrane
    basic FUNCTION
  • playing a central role in verbal memory and cognitive function
  • playing a key role in the plasticity of synapses
  • and in excitatory neurostransmission
  • ligand-gated ion channel (Ca2+) transporting, when bound to glutamate and Mg2+ released
  • playing a central role in the striatum, in long potentiation memory, motor learning and cognitive function
  • playinga role in controlling T cell activation
  • activates multiple kinases and changes the phosphorylation of many postsynaptic proteins organized in signaling networks
  • its activation induces postnatal Müller glia-derived retinal cell progenitor proliferation and transcription factor CREB phosphorylation (activation induces postnatal Müller glia-derived retinal cell progenitor proliferation and transcription factor CREB phosphorylation)
  • by tethering Galpha with mu-opioid receptor (OPM1), GRIN1 stabilizes the receptor within the lipid rafts and potentiates the receptor signaling in the neurite outgrowth processes
  • main component of functional N-methyl-d-aspartic acid receptors that are involved in the glucocorticoid-induced neuronal damage
  • activity of the GRIN1/GRIN2D NMDA receptor is controlled distinctively by the endogenous neurotransmitter L-glutamate
  • role in controlling the intrinsic excitability of primary sensory neurons possibly via Ca(2+)-activated slow conductance K(+) (SK) channels
  • primary motor cortex NMDA receptors are necessary for activity-dependent synaptic strengthening and associative learning
  • Schwann cell signaling receptor for protein ligands and a major regulator of Schwann cell physiology, which may be particularly important in peripheral nervous system (PNS) injury
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS nervous system
    text small molecule transport
    PATHWAY
    metabolism
    signaling neurotransmission
  • glutamate signaling pathway, excitatory neurotransmission
  • GRIN1/PRKCG signaling pathway may participate in the development of bone cancer pain
  • a component
  • GRIN2A, GRIN2B, GRIN2C, GRIN2D
  • N-methyl D-aspartate receptor 1, zeta 1 subunit glutamate receptor
  • heterodimers of an epsilon subunit and a zeta subunit
  • dimer of GRIN1-GRIN2B heterodimers with the twofold symmetry axis running through the entire molecule composed of an amino terminal domain (ATD), a ligand-binding domain (LBD), and a transmembrane domain (TMD)
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • magnesium Mg2+ blocking the NMDA receptor in the depolarized postsynaptic membrane
  • protein
  • GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRINA
  • interacting with RALA (GRIN1 activation stimulates RALA, which binds and translocates widespread RALBP1 to synapses)
  • interacting with importin alpha (importin alpha is tethered at the postsynaptic density by binding to the NLS present in NR1-1a)
  • NRF1 co-regulates oxidative enzymes that generate energy and neurochemicals that consume energy related to glutamatergic neurotransmission, such as KIF17, GRIN1, and GRIN2B, thereby ensuring that energy production matches energy utilization at the molecular and cellular levels
  • cell & other
    REGULATION
    activated by selectively activated by the artificial glutamate analog N-methyl D-aspartate
    Other regulated by C terminal phosphorylation by PKC
    activated in ischaemia
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD8
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    significantly increased in male patients with AD
    constitutional     --low  
    decreased in postmortem brain from people with schizophrenia
    Susceptibility
  • to schizophrenia
  • to infantile spasms responsive to to adrenocorticotropic hormone
  • Variant & Polymorphism other
  • polymorphism G1001C asssociated to allele T4197C and T5988C of GRIN2B increasing the risk of schizophrenia
  • in homozygous carriers of the CTA haplotype was higher responsive to adrenocorticotropic hormone than that in heterozygous carriers and non-carriers
  • Candidate gene torsion dystonia
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyacquired 
    a potential therapeutic target for preventing white matter damage in a variety of diseases
    obesity  
    dorsal vagal complex GRIN2A, GRIN1 can a potential therapeutic target for obesity
    diabete  
    dorsal vagal complex GRIN2A, GRIN1 can a potential therapeutic target for diabetes
    ANIMAL & CELL MODELS
  • CA1-specific Nmdar 1 knockout mice
  • GluN1 hypomorph mice exhibit wide-ranging behavioral alterations