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Aliases for GRIN1 Gene

Aliases for GRIN1 Gene

  • Glutamate Ionotropic Receptor NMDA Type Subunit 1 2 3
  • Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 1 2 3 5
  • N-Methyl-D-Aspartate Receptor Subunit NR1 2 3 4
  • Glutamate [NMDA] Receptor Subunit Zeta-1 3 4
  • NMDAR1 3 4
  • NMD-R1 3 4
  • GluN1 3 4
  • N-Methyl-D-Aspartate Receptor Channel, Subunit Zeta-1 3
  • Glutamate [NMDA] Receptor Subunit Zeta 1 3
  • NMDA1 3
  • MRD8 3
  • NR1 3

External Ids for GRIN1 Gene

Previous HGNC Symbols for GRIN1 Gene

  • NMDAR1

Previous GeneCards Identifiers for GRIN1 Gene

  • GC09U990032
  • GC09P131724
  • GC09P133473
  • GC09P135390
  • GC09P137308
  • GC09P139152
  • GC09P140032
  • GC09P109493

Summaries for GRIN1 Gene

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 Ionotropic Receptor NMDA Type Subunit 1) is a Protein Coding gene. Diseases associated with GRIN1 include mental retardation, autosomal dominant 8 and autosomal dominant non-syndromic intellectual disability. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include calcium ion binding and receptor binding. An important paralog of this gene is GRIN2A.

UniProtKB/Swiss-Prot for GRIN1 Gene

  • 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).

Tocris 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 NR2 (A-D) or NR3 (A-B) subunits. The ligand-gated channel is permeable to cations.

Gene Wiki entry for GRIN1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRIN1 Gene

Genomics for GRIN1 Gene

Regulatory Elements for GRIN1 Gene

Genomic Location for GRIN1 Gene

Chromosome:
9
Start:
137,138,390 bp from pter
End:
137,168,762 bp from pter
Size:
30,373 bases
Orientation:
Plus strand

Genomic View for GRIN1 Gene

Genes around GRIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIN1 Gene

Proteins for GRIN1 Gene

  • Protein details for GRIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05586-NMDZ1_HUMAN
    Recommended name:
    Glutamate receptor ionotropic, NMDA 1
    Protein Accession:
    Q05586
    Secondary Accessions:
    • A6NLK7
    • A6NLR1
    • C9K0X1
    • P35437
    • Q12867
    • Q12868
    • Q5VSF3
    • Q5VSF4
    • Q5VSF5
    • Q5VSF6
    • Q5VSF7
    • Q5VSF8
    • Q9UPF8
    • Q9UPF9

    Protein attributes for GRIN1 Gene

    Size:
    938 amino acids
    Molecular mass:
    105373 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for GRIN1 Gene

    Alternative splice isoforms for GRIN1 Gene

neXtProt entry for GRIN1 Gene

Proteomics data for GRIN1 Gene at MOPED

Post-translational modifications for GRIN1 Gene

  • 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.
  • Glycosylation at Asn 61, Asn 203, Asn 239, Asn 276, Asn 300, Asn 350, Asn 368, Asn 440, Asn 471, and Asn 491
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GRIN1 (NMDAR1)

No data available for DME Specific Peptides for GRIN1 Gene

Domains & Families for GRIN1 Gene

Gene Families for GRIN1 Gene

Suggested Antigen Peptide Sequences for GRIN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q05586

UniProtKB/Swiss-Prot:

NMDZ1_HUMAN :
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily.
Family:
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily.
genes like me logo Genes that share domains with GRIN1: view

Function for GRIN1 Gene

Molecular function for GRIN1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for GRIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005102 receptor binding IEA --
GO:0005262 contributes_to calcium channel activity IDA 7685113
genes like me logo Genes that share ontologies with GRIN1: view
genes like me logo Genes that share phenotypes with GRIN1: view

Human Phenotype Ontology for GRIN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRIN1 Gene

MGI Knock Outs for GRIN1:

Animal Model Products

miRNA for GRIN1 Gene

miRTarBase miRNAs that target GRIN1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GRIN1 Gene

Localization for GRIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRIN1 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Note=Enriched in postsynaptic plasma membrane and postsynaptic densities. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRIN1 Gene COMPARTMENTS Subcellular localization image for GRIN1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
endoplasmic reticulum 3
nucleus 2
cytoskeleton 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GRIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 7685113
GO:0008021 synaptic vesicle ISS --
GO:0009986 cell surface ISS --
GO:0014069 postsynaptic density ISS --
GO:0030425 dendrite IDA 10749211
genes like me logo Genes that share ontologies with GRIN1: view

Pathways & Interactions for GRIN1 Gene

SuperPathways for GRIN1 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Post NMDA receptor activation events
3 Transmission across Chemical Synapses
4 Circadian entrainment
5 Signaling by GPCR
genes like me logo Genes that share pathways with GRIN1: view

Gene Ontology (GO) - Biological Process for GRIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity TAS --
GO:0001964 startle response IEA --
GO:0001975 response to amphetamine IEA --
GO:0006812 cation transport IDA 7685113
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with GRIN1: view

No data available for SIGNOR curated interactions for GRIN1 Gene

Drugs & Compounds for GRIN1 Gene

(77) Drugs for GRIN1 Gene - From: Novoseek, HMDB, IUPHAR, DGIdb, DrugBank, Tocris, ApexBio, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Orphenadrine Approved Pharma antagonist, Target 7
Meperidine Approved Pharma Target, antagonist 65
Glycine Approved Nutra Full agonist, Agonist, antagonist Endogenous potentiator, co-transmitter 94
Phenobarbital Approved Pharma Agonist, Target, antagonist 34
Acamprosate Approved, Investigational Pharma Target, antagonist 38

(16) Additional Compounds for GRIN1 Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]MK-801
cis-ACPD
477331-06-9
genes like me logo Genes that share compounds with GRIN1: view

Transcripts for GRIN1 Gene

Unigene Clusters for GRIN1 Gene

Glutamate receptor, ionotropic, N-methyl D-aspartate 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GRIN1 Gene

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: -
SP6:
SP7:
SP8: -
SP9:

ExUns: 21b ^ 22a · 22b ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:

Relevant External Links for GRIN1 Gene

GeneLoc Exon Structure for
GRIN1
ECgene alternative splicing isoforms for
GRIN1

Expression for GRIN1 Gene

mRNA expression in normal human tissues for GRIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRIN1 Gene

This gene is overexpressed in Brain - Cortex (x8.3), Brain - Frontal Cortex (BA9) (x6.7), Brain - Anterior cingulate cortex (BA24) (x5.1), Brain - Nucleus accumbens (basal ganglia) (x4.6), Brain - Putamen (basal ganglia) (x4.2), and Brain - Cerebellum (x4.2).

Protein differential expression in normal tissues from HIPED for GRIN1 Gene

This gene is overexpressed in Neutrophil (22.4), Blymphocyte (16.5), Monocytes (12.5), and Frontal cortex (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GRIN1 Gene



SOURCE GeneReport for Unigene cluster for GRIN1 Gene Hs.558334

genes like me logo Genes that share expression patterns with GRIN1: view

Protein tissue co-expression partners for GRIN1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GRIN1 Gene

Orthologs for GRIN1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GRIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRIN1 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRIN1 36
  • 99 (a)
OneToOne
GRIN1 35
  • 93.37 (n)
  • 98.71 (a)
dog
(Canis familiaris)
Mammalia GRIN1 36
  • 94 (a)
OneToOne
GRIN1 35
  • 92.23 (n)
  • 99.57 (a)
mouse
(Mus musculus)
Mammalia Grin1 36
  • 95 (a)
OneToOne
Grin1 16
Grin1 35
  • 90.33 (n)
  • 99 (a)
oppossum
(Monodelphis domestica)
Mammalia GRIN1 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grin1 35
  • 90.28 (n)
  • 99.26 (a)
chicken
(Gallus gallus)
Aves GRIN1 35
  • 83.56 (n)
  • 94.54 (a)
GRIN1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRIN1 36
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia NR1 35
tropical clawed frog
(Silurana tropicalis)
Amphibia grin1 35
  • 79.92 (n)
  • 92.65 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12065 35
zebrafish
(Danio rerio)
Actinopterygii Dr.28352 35
grin1a 35
  • 78.33 (n)
  • 88.89 (a)
grin1a 36
  • 86 (a)
OneToMany
grin1b 36
  • 88 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001478 35
  • 60.62 (n)
  • 51.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nmdar1 37
  • 47 (a)
Nmdar1 35
  • 60.38 (n)
  • 50.48 (a)
Nmdar1 36
  • 43 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nmr-1 35
  • 44.42 (n)
  • 37.32 (a)
nmr-1 36
  • 27 (a)
OneToOne
nmr-1 37
  • 35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GLR5 35
  • 40.53 (n)
  • 29.86 (a)
Species with no ortholog for GRIN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GRIN1 Gene

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

Paralogs for GRIN1 Gene

Paralogs for GRIN1 Gene

(2) SIMAP similar genes for GRIN1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GRIN1: view

Variants for GRIN1 Gene

Sequence variations from dbSNP and Humsavar for GRIN1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs3181457 - 137,162,076(+) ACTAT(G/T)CTGGT reference, missense
VAR_066598 Mental retardation, autosomal dominant 8 (MRD8)
rs1126448 - 137,162,876(+) TCTAC(G/T)CCACG reference, missense
rs1126430 -- 137,145,803(+) CGTGT(C/G)TACAG reference, synonymous-codon
rs1803941 -- 137,162,253(+) TGCAC(G/T)TGGTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GRIN1 Gene

Variant ID Type Subtype PubMed ID
nsv469918 CNV Loss 18288195
nsv894387 CNV Gain 21882294
esv2422220 CNV Deletion 17116639
dgv8412n71 CNV Loss 21882294
dgv8416n71 CNV Loss 21882294
nsv524322 CNV Loss 19592680
nsv894469 CNV Loss 21882294
dgv8423n71 CNV Loss 21882294
nsv894502 CNV Loss 21882294
nsv894506 CNV Gain 21882294
dgv8428n71 CNV Loss 21882294
nsv894521 CNV Loss 21882294
nsv894550 CNV Gain 21882294
dgv8437n71 CNV Gain 21882294
dgv8439n71 CNV Loss 21882294
dgv8441n71 CNV Loss 21882294
dgv8442n71 CNV Loss 21882294
nsv831761 CNV Loss 17160897
dgv8445n71 CNV Loss 21882294
dgv8446n71 CNV Loss 21882294
nsv894591 CNV Loss 21882294
dgv8447n71 CNV Loss 21882294
dgv8448n71 CNV Loss 21882294
dgv8450n71 CNV Loss 21882294
nsv894603 CNV Gain+Loss 21882294
esv1945349 CNV Deletion 18987734
nsv415676 CNV Loss 16902084
esv1663270 CNV Deletion 17803354
esv1736918 CNV Deletion 17803354
esv2739411 CNV Deletion 23290073
esv2739412 CNV Deletion 23290073
esv2739413 CNV Deletion 23290073
nsv825184 CNV Gain 20364138
dgv8451n71 CNV Loss 21882294
esv2739414 CNV Deletion 23290073

Variation tolerance for GRIN1 Gene

Residual Variation Intolerance Score: 4.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRIN1 Gene

HapMap Linkage Disequilibrium report
GRIN1
Human Gene Mutation Database (HGMD)
GRIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRIN1 Gene

Disorders for GRIN1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for GRIN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 8
  • mrd8
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
amblyopia
dysembryoplastic neuroepithelial tumor
  • dysembryoplastic neuroepithelial neoplasm
epileptic encephalopathy, early infantile, 31
  • eiee31
- elite association - COSMIC cancer census association via MalaCards
Search GRIN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NMDZ1_HUMAN
  • 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. {ECO:0000269 PubMed:21376300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GRIN1

Genetic Association Database (GAD)
GRIN1
Human Genome Epidemiology (HuGE) Navigator
GRIN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRIN1
genes like me logo Genes that share disorders with GRIN1: view

No data available for Genatlas for GRIN1 Gene

Publications for GRIN1 Gene

  1. Polymorphism analysis of the upstream region of the human N-methyl-D-aspartate receptor subunit NR1 gene (GRIN1): implications for schizophrenia. (PMID: 12363394) Tani A. … Fukumaki Y. (Schizophr. Res. 2002) 3 23 48 67
  2. Increased excitotoxicity and neuroinflammatory markers in postmortem frontal cortex from bipolar disorder patients. (PMID: 19488045) Rao J.S. … Kim H.W. (Mol. Psychiatry 2010) 3 23
  3. Coexistence of up-regulated NMDA receptor 1 and glutamate on nerves, vessels and transformed tenocytes in tendinopathy. (PMID: 19422642) Schizas N. … Ackermann P.W. (Scand J Med Sci Sports 2010) 3 23
  4. A peripheral neuroimmune link: glutamate agonists upregulate NMDA NR1 receptor mRNA and protein, vimentin, TNF-alpha, and RANTES in cultured human synoviocytes. (PMID: 20007519) McNearney T.A. … Westlund K.N. (Am. J. Physiol. Regul. Integr. Comp. Physiol. 2010) 3 23
  5. Association between the G1001C polymorphism in the GRIN1 gene promoter and schizophrenia in the Iranian population. (PMID: 18792810) Galehdari H. … Saadat M. (J. Mol. Neurosci. 2009) 3 23

Products for GRIN1 Gene

Sources for GRIN1 Gene

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