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Aliases for GRIN1 Gene

Aliases for GRIN1 Gene

  • Glutamate Ionotropic Receptor NMDA Type Subunit 1 2 3 5
  • N-Methyl-D-Aspartate Receptor Subunit NR1 2 3 4
  • Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 1 2 3
  • 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 Receptor Ionotropic, NMDA 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 Peptide ligand-binding receptors and Interleukin-3, 5 and GM-CSF signaling. 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

Enhancers for GRIN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GRIN1 on UCSC Golden Path with GeneCards custom track

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

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

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:0004972 contributes_to NMDA glutamate receptor activity IDA 7679115
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005102 receptor binding IEA --
GO:0005234 extracellular-glutamate-gated ion channel activity IEA --
GO:0005261 cation channel activity IEA --
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

CRISPR Products

miRNA for GRIN1 Gene

miRTarBase miRNAs that target GRIN1

Clone 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:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 7685113
GO:0008021 synaptic vesicle ISS --
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 Activation of NMDA receptor upon glutamate binding and postsynaptic events
3 Circadian entrainment
4 Transmission across Chemical Synapses
5 Alzheimer's disease
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:0000165 MAPK cascade TAS --
GO:0001661 conditioned taste aversion IEA --
GO:0001964 startle response IEA --
GO:0001967 suckling behavior IEA --
GO:0001975 response to amphetamine 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Orphenadrine Approved Pharma antagonist, Target 7
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, antagonist 198
Meperidine Approved Pharma Target, antagonist 68
Phenobarbital Approved Pharma Agonist, Target, antagonist 54
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-6-Hydroxynorketamine hydrochloride
PEAQX tetrasodium salt

(5) Tocris Compounds for GRIN1 Gene

Compound Action Cas Number
cis-6-Hydroxynorketamine hydrochloride Metabolite of ketamine (Cat.No. 3131); antidepressive
D-AP5 Potent, selective NMDA antagonist; more active form of DL-AP5 (Cat. No. 0105) 79055-68-8
DL-AP5 Potent, selective NMDA antagonist 76326-31-3
DL-AP5 Sodium salt Sodium salt of DL-AP5 (Cat. No. 0105) 1303993-72-7
PEAQX tetrasodium salt Potent NMDA receptor antagonist; NR2A selective

(87) ApexBio Compounds for GRIN1 Gene

Compound Action Cas Number
(-)-Huperzine A NMDA receptor antagonist/AChE inhibitor 102518-79-6
(-)-MK 801 NMDA antagonist,potent and selective 121917-57-5
(+)-MK 801 Potent NMDA antagonist 70449-94-4
(+)-MK 801 Maleate Potent NMDA antagonist 77086-22-7
(±)-1-(1,2-Diphenylethyl)piperidine maleate 207461-99-2
(2R,3S)-Chlorpheg 140924-23-8
(R)-(+)-HA-966 123931-04-4
(R)-4-Carboxyphenylglycine 134052-68-9
(R)-CPP 126453-07-4
(RS)-(Tetrazol-5-yl)glycine 138199-51-6
(RS)-CPP 100828-16-8
(S)-(-)-HA-966 111821-58-0
(S)-(+)-Ketamine hydrochloride 33643-47-9
5,7-Dichlorokynurenic acid 131123-76-7
5,7-Dichlorokynurenic acid sodium salt 1184986-70-6
ACBC 22264-50-2
Arcaine sulfate 14923-17-2
CCMQ 132623-44-0
CGP 37849 127910-31-0
CGP 39551 127910-32-1
CGP 78608 hydrochloride 1135278-54-4
CGS 19755 110347-85-8
CIQ 486427-17-2
cis-ACPD 477331-06-9
Co 101244 hydrochloride 193356-17-1
Conantokin G 93438-65-4
Conantokin-R 202925-60-8
Conantokin-T 127476-26-0
D-AP5 79055-68-8
D-AP7 81338-23-0
D-CPP-ene 117414-74-1
DL-AP5 76326-31-3
DL-AP5 Sodium salt 1303993-72-7
DL-AP7 78966-69-5
DQP 1105 380560-89-4
Eliprodil 119431-25-3
Felbamate 25451-15-4
Felbamate hydrate 1177501-39-1
Flupirtine Analgesic agent 56995-20-1
Flupirtine maleate 75507-68-5
Gavestinel 153436-38-5
GLYX 13 117928-94-6
Homoquinolinic acid 490-75-5
HU 211 NMDA antagonist, novel and non-competitive 112924-45-5
Ibotenic acid 2552-55-8
Ifenprodil hemitartrate 23210-56-2
Ifenprodil Tartrate NMDA receptor antagonist 23210-58-4
Ketamine hydrochloride 1867-66-9
L-689,560 potent NMDA antagonist 139051-78-8
L-701,252 151057-13-5
L-701,324 142326-59-8
L-AP5 79055-67-7
L-Cysteinesulfinic acid 1115-65-7
LY 233053 125546-04-5
LY 235959 137433-06-8
MDL-29951 130798-51-5
Memantine hydrochloride NMDA receptor antagonist 41100-52-1
MK-801 (Dizocilpine) 77086-21-6
MNI-caged-D-aspartate 845555-94-4
MNI-caged-NMDA 1227675-52-6
N-(4-Hydroxyphenylacetyl)spermine 130210-32-1
N20C hydrochloride 1177583-87-7
NMDA (N-Methyl-D-aspartic acid) NMDA receptor agonist 6384-92-5
Norketamine hydrochloride 79499-59-5
PMPA (NMDA antagonist) 113919-36-1
PPDA 684283-16-7
PPPA 113190-92-4
QNZ 46 1237744-13-6
Quinolinic acid 89-00-9
Remacemide hydrochloride 111686-79-4
Ro 04-5595 hydrochloride 64047-73-0
Ro 25-6981 NMDA receptors blocker 169274-78-6
Ro 25-6981 Maleate NMDA receptor antagonist,potent and selective 1312991-76-6
Ro 8-4304 hydrochloride 1312991-77-7
SDZ 220-040 174575-40-7
SDZ 220-581 NMDA glutamate receptor subtype antagonist 174575-17-8
SDZ 220-581 Ammonium salt NMDA glutamate receptor antagonist 179411-94-0
SDZ 220-581 hydrochloride NMDA receptor antagonist 179411-93-9
Spermidine trihydrochloride 334-50-9
Spermine tetrahydrochloride 306-67-2
Synthalin sulfate 182285-12-7
TCN 201 852918-02-6
TCN 213 556803-08-8
TCN 237 dihydrochloride 700878-19-9
TCS 46b 302799-86-6
threo Ifenprodil hemitartrate 1312991-83-5
ZD 9379
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:

CRISPR Products

Clone Products

Flow Cytometry Products

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



Protein tissue co-expression partners for GRIN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GRIN1 Gene:

GRIN1

SOURCE GeneReport for Unigene cluster for GRIN1 Gene:

Hs.558334
genes like me logo Genes that share expression patterns with GRIN1: view

Primer 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
cow
(Bos Taurus)
Mammalia GRIN1 34
  • 93.37 (n)
  • 98.71 (a)
GRIN1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRIN1 34
  • 92.23 (n)
  • 99.57 (a)
GRIN1 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grin1 34
  • 90.33 (n)
  • 99 (a)
Grin1 16
Grin1 35
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grin1 34
  • 90.28 (n)
  • 99.26 (a)
oppossum
(Monodelphis domestica)
Mammalia GRIN1 35
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GRIN1 35
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRIN1 34
  • 83.56 (n)
  • 94.54 (a)
GRIN1 35
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRIN1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grin1 34
  • 79.92 (n)
  • 92.65 (a)
African clawed frog
(Xenopus laevis)
Amphibia NR1 34
zebrafish
(Danio rerio)
Actinopterygii Dr.28352 34
grin1a 34
  • 78.33 (n)
  • 88.89 (a)
grin1a 35
  • 86 (a)
OneToMany
grin1b 35
  • 88 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12065 34
fruit fly
(Drosophila melanogaster)
Insecta Nmdar1 36
  • 47 (a)
Nmdar1 34
  • 60.38 (n)
  • 50.48 (a)
Nmdar1 35
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001478 34
  • 60.62 (n)
  • 51.32 (a)
worm
(Caenorhabditis elegans)
Secernentea nmr-1 36
  • 35 (a)
nmr-1 34
  • 44.42 (n)
  • 37.32 (a)
nmr-1 35
  • 27 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons GLR5 34
  • 40.53 (n)
  • 29.86 (a)
Species where no ortholog for GRIN1 was found in the sources mined by GeneCards:
  • 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
rs387906635 Mental retardation, autosomal dominant 8 (MRD8) 137,162,710(+) CGGAG(A/G)AGCGC reference, missense
rs1126448 - 137,162,876(+) TCTAC(G/T)CCACG reference, missense
rs7853409 -- 137,166,994(+) GGAGC(A/G)AGGCC intron-variant
rs7869600 -- 137,145,204(-) CTCAC(C/T)CCTGT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv13007n54 CNV loss 21841781
dgv4175n106 CNV deletion 24896259
esv1663270 CNV deletion 17803354
esv1736918 CNV deletion 17803354
esv1945349 CNV deletion 18987734
esv2422220 CNV deletion 17116639
esv2739411 CNV deletion 23290073
esv2739412 CNV deletion 23290073
esv2739413 CNV deletion 23290073
esv2739414 CNV deletion 23290073
esv2761561 CNV gain 21179565
esv3622023 CNV gain 21293372
nsv1075288 CNV deletion 25765185
nsv1076224 CNV deletion 25765185
nsv1161918 CNV duplication 26073780
nsv415676 CNV deletion 16902084
nsv469918 CNV loss 18288195
nsv524322 CNV loss 19592680
nsv616005 CNV loss 21841781
nsv616007 CNV loss 21841781
nsv825184 CNV gain 20364138
nsv831761 CNV loss 17160897
nsv951207 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
GRIN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRIN1

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

Disorders for GRIN1 Gene

MalaCards: The human disease database

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

- 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. 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 22 46 65
  2. [An association study between GRIN1, BDNF genes and bipolar disorder]. (PMID: 17284422) Liu M. … Wang G. (Yi Chuan 2007) 3 22 46 65
  3. No association between genetic variants at the GRIN1 gene and bipolar disorder in a German sample. (PMID: 16969270) Georgi A. … Schulze T.G. (Psychiatr. Genet. 2006) 3 22 46 65
  4. GRIN1 locus may modify the susceptibility to seizures during alcohol withdrawal. (PMID: 15635650) Rujescu D. … Szegedi A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005) 3 22 46 65
  5. 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. (PMID: 15841096) Qin S. … He L. (Eur. J. Hum. Genet. 2005) 3 22 46 65

Products for GRIN1 Gene

Sources for GRIN1 Gene

Content