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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
  • NDHMSD 3
  • NDHMSR 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 Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant and Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and signaling receptor binding. An important paralog of this gene is GRIN2A.

UniProtKB/Swiss-Prot for GRIN1 Gene

  • Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:26919761).

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

Additional gene information for GRIN1 Gene

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

Genomics for GRIN1 Gene

GeneHancer (GH) Regulatory Elements for GRIN1 Gene

Promoters and enhancers for GRIN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J137139 Promoter 1 EPDnew 650.7 +0.8 812 0.1 MXI1 SAP130 SUZ12 ARID4B BACH1 SIN3A ERF RARA ZNF143 CREM GRIN1 LOC105376328
GH09J137166 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.3 +32.8 32755 10.1 HDGF SIN3A ZNF2 ZBTB7B GLIS2 ZNF143 KLF7 SP3 REST GMEB1 ENSG00000261793 LRRC26 TMEM210 MIR3621 TPRN IL9RP1 TMEM203 NDOR1 GRIN1 DPP7
GH09J136884 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.3 -252.1 -252115 3.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B E2F8 LOC105376326 MIR4479 TRAF2 EHMT1 ENTR1 ANAPC2 PHPT1 SNHG7 LOC100418938 MAMDC4
GH09J137051 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 11.9 -84.2 -84185 4.6 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 FOS NFKBIZ SP3 ENTPD2 LOC105376327 MAN1B1 UAP1L1 DPP7 GRIN1 CCDC183 RABL6 NPDC1 ENSG00000229257
GH09J137160 Enhancer 0.9 Ensembl ENCODE 12.5 +25.0 25010 5.3 CTCF KLF1 RAD21 GLIS2 KLF8 CHD2 EZH2 ZNF639 L3MBTL2 NRF1 DPP7 ANAPC2 SSNA1 TPRN GRIN1 MAN1B1 TMEM203 NDOR1 NPDC1 EXD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRIN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GRIN1 gene promoter:
  • Hand1
  • E47
  • Tal-1beta
  • Spz1
  • Zic1
  • Lmo2
  • PPAR-alpha
  • GATA-2
  • AhR

Genomic Locations for GRIN1 Gene

Genomic Locations for GRIN1 Gene
chr9:137,138,390-137,168,762
(GRCh38/hg38)
Size:
30,373 bases
Orientation:
Plus strand
chr9:140,032,842-140,063,214
(GRCh37/hg19)
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:
    • Heterotetramer. Forms heterotetrameric channels composed of two zeta subunits (GRIN1), and two epsilon subunits (GRIN2A, GRIN2B, GRIN2C or GRIN2D) (in vitro) (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280). Can also form heterotetrameric channels that contain at least one zeta subunit (GRIN1), an epsilon subunit, plus GRIN3A or GRIN3B (in vitro). In vivo, the subunit composition may vary in function of the expression levels of the different subunits. Found in a complex with GRIN2A or GRIN2B, GRIN3A and PPP2CB (By similarity). Found in a complex with GRIN2A or GRIN2B and GRIN3B (By similarity). 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 DLG4 and MPDZ. Interacts with LRFN1 and LRFN2 (By similarity). Interacts with MYZAP (PubMed:18849881). Found in a complex with DLG4 and PRR7 (By similarity). Found in a complex with GRIN2B and PRR7 (PubMed:27458189). Interacts with PRR7; the interaction is reduced following NMDA receptor activity (PubMed:27458189).

    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 Asn491, isoforms=2, 3, 4, 5, 6, 7471, Asn440, isoforms=2, 3, 4, 5, 6, 7368, isoforms=2, 3, 4, 5, 6, 7350, isoforms=2, 3, 4, 5, 6, 7300, Asn276, Asn239, isoforms=2, 3, 4, 5, 6, 7203, and isoforms=2, 3, 4, 5, 6, 761
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for GRIN1 Gene

Domains & Families for GRIN1 Gene

Gene Families for GRIN1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for GRIN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q05586

UniProtKB/Swiss-Prot:

NMDZ1_HUMAN :
  • A hydrophobic region that gives rise to the prediction of a transmembrane span does not cross the membrane, but is part of a discontinuously helical region that dips into the membrane and is probably part of the pore and of the selectivity filter.
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily.
Domain:
  • A hydrophobic region that gives rise to the prediction of a transmembrane span does not cross the membrane, but is part of a discontinuously helical region that dips into the membrane and is probably part of the pore and of the selectivity filter.
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

UniProtKB/Swiss-Prot Function:
Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:7685113, PubMed:28126851, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:26919761).
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

Phenotypes From GWAS Catalog for GRIN1 Gene

Gene Ontology (GO) - Molecular Function for GRIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0004972 NMDA glutamate receptor activity TAS 17526495
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005102 signaling receptor binding IEA --
GO:0005216 ion 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

miRNA for GRIN1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRIN1

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRIN1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
endoplasmic reticulum 3
nucleus 2
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GRIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular ISS 17526495
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 7685113
genes like me logo Genes that share ontologies with GRIN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRIN1 Gene

Pathways & Interactions for GRIN1 Gene

SuperPathways for GRIN1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
4 Circadian entrainment
5 Long-term potentiation
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

(156) 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 9
D-serine Approved, Experimental, Investigational Pharma Agonist, modulator, Target 0
Meperidine Approved Pharma Target, antagonist 67
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, antagonist 254

(14) Additional Compounds for GRIN1 Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]MK-801

(5) Tocris Compounds for GRIN1 Gene

Compound Action Cas Number
cis-ACPD Potent NMDA agonist. Also group II mGluR agonist 477331-06-9
HU 211 NMDA receptor antagonist; also NF-kappaB inhibitor 112924-45-5
Ibotenic acid Non-selective NMDA agonist 2552-55-8
Ifenprodil hemitartrate Non-competitive NMDA antagonist. Also sigma ligand 23210-56-2
L-Cysteinesulfinic acid NMDA and mGlu agonist 1115-65-7
genes like me logo Genes that share compounds with GRIN1: view

Transcripts for GRIN1 Gene

mRNA/cDNA for GRIN1 Gene

Unigene Clusters for GRIN1 Gene

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRIN1

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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

Evidence on tissue expression from TISSUES for GRIN1 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GRIN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with GRIN1: view

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 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRIN1 34 33
  • 93.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GRIN1 34 33
  • 92.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Grin1 16 34 33
  • 90.33 (n)
rat
(Rattus norvegicus)
Mammalia Grin1 33
  • 90.28 (n)
oppossum
(Monodelphis domestica)
Mammalia GRIN1 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRIN1 34 33
  • 83.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRIN1 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grin1 33
  • 79.92 (n)
African clawed frog
(Xenopus laevis)
Amphibia NR1 33
zebrafish
(Danio rerio)
Actinopterygii grin1b 34
  • 88 (a)
OneToMany
grin1a 34 33
  • 78.33 (n)
OneToMany
Dr.28352 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12065 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001478 33
  • 60.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nmdar1 34 35 33
  • 60.38 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nmr-1 34 35 33
  • 44.42 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons GLR5 33
  • 40.53 (n)
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)
Aminode:
Evolutionary constrained regions (ECRs) for GRIN1: view image

Paralogs for GRIN1 Gene

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

  • NMDZ1_HUMAN
  • A2AVK2_HUMAN
  • Q5VSF9_HUMAN
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 Variation AA Info Type
rs1060500045 uncertain-significance, Mental retardation, autosomal dominant 8 137,163,311(+) G/C coding_sequence_variant, missense_variant
rs1060500046 pathogenic, Mental retardation, autosomal dominant 8 137,162,649(+) G/A coding_sequence_variant, missense_variant
rs116006955 conflicting-interpretations-of-pathogenicity, benign, not specified, Mental retardation, autosomal dominant 8 137,162,040(+) G/A coding_sequence_variant, synonymous_variant
rs116354349 conflicting-interpretations-of-pathogenicity, benign, not specified, Mental retardation, autosomal dominant 8 137,163,238(+) G/C coding_sequence_variant, synonymous_variant
rs138298331 likely-benign, Mental retardation, autosomal dominant 8 137,163,295(+) C/T coding_sequence_variant, synonymous_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)

Additional Variant Information for GRIN1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GRIN1 Gene

MalaCards: The human disease database

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

UniProtKB/Swiss-Prot

NMDZ1_HUMAN
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]: An autosomal dominant neurodevelopmental disorder characterized by severe mental retardation and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients. {ECO:0000269 PubMed:21376300, ECO:0000269 PubMed:25167861, ECO:0000269 PubMed:27164704, ECO:0000269 PubMed:28095420, ECO:0000269 PubMed:28389307}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GRIN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Journal of molecular neuroscience : MN 2009) 3 22 44 58
  2. [An association study between GRIN1, BDNF genes and bipolar disorder]. (PMID: 17284422) Liu M … Wang G (Yi chuan = Hereditas 2007) 3 22 44 58
  3. No association between genetic variants at the GRIN1 gene and bipolar disorder in a German sample. (PMID: 16969270) Georgi A … Schulze TG (Psychiatric genetics 2006) 3 22 44 58
  4. GRIN1 locus may modify the susceptibility to seizures during alcohol withdrawal. (PMID: 15635650) Rujescu D … Szegedi A (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005) 3 22 44 58
  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 (European journal of human genetics : EJHG 2005) 3 22 44 58

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