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GRIN1 Gene(Protein Coding)

Glutamate Ionotropic Receptor NMDA Type Subunit 1

GCID:
GC09P137138
GIFtS:
61
Genes Participants
UDN Logo

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 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 RET signaling and EPH-Ephrin signaling. Gene Ontology (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

  • 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

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  1. Regulatory Element

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
GH09I137138 Promoter 1 EPDnew 550.8 -0.1 -50 0.1 ATF1 SIN3A ZIC2 BCL11B POLR2A ZBTB48 PATZ1 PRDM10 CREM EZH2 GRIN1 GC09M137131
GH09I137140 Promoter 1 EPDnew 550.8 +0.7 745 0.1 SAP130 SUZ12 ARID4B BACH1 SIN3A ZNF143 CREM EZH2 SMARCE1 KLF6 GRIN1 LOC105376328
GH09I137139 Promoter 0.8 EPDnew 550.8 +1.2 1159 0.1 POLR2A SUZ12 ID3 REST EZH2 GRIN1 LOC105376328
GH09I137166 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 MIR3621 LRRC26 TMEM210 ENSG00000261793 MAN1B1 TPRN DPH7 INPP5E ARRDC1-AS1 EXD3
GH09I136884 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.3 -252.1 -252115 3.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZBTB7B POLR2B E2F8 ZNF207 LOC105376326 MIR4479 TRAF2 EHMT1 SDCCAG3 ANAPC2 PHPT1 SNHG7 LOC651337 MAMDC4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GRIN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GRIN1 gene promoter:

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)

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 Structure • Gene Density

RefSeq DNA sequence for GRIN1 Gene

Proteins for GRIN1 Gene

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  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for GRIN1 Gene

Protein Expression for GRIN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 isoforms=2, 3, 4, 5, 6, 761, isoforms=2, 3, 4, 5, 6, 7203, posLast=239239, posLast=276276, posLast=300300, isoforms=2, 3, 4, 5, 6, 7350, isoforms=2, 3, 4, 5, 6, 7368, isoforms=2, 3, 4, 5, 6, 7440, isoforms=2, 3, 4, 5, 6, 7471, and isoforms=2, 3, 4, 5, 6, 7491
  • Modification sites at PhosphoSitePlus

Other Protein References for GRIN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for GRIN1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GRIN1 Gene

GenScript: Design optimal peptide antigens:

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

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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:
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).

Phenotypes From GWAS Catalog for GRIN1 Gene

Gene Ontology (GO) - Molecular Function for GRIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA --
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0004972 NMDA glutamate receptor activity ISS --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005102 receptor binding 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

miRTarBase miRNAs that target 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: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

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

Pathways & Interactions for GRIN1 Gene

SuperPathways for GRIN1 Gene

PathCards logo More details on SuperPathways for GRIN1
SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
NCAM signaling for neurite out-growth
.89
DAP12 interactions
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.56
2 Post NMDA receptor activation events
Activation of NMDA receptor upon glutamate binding and postsynaptic events
.90
Post NMDA receptor activation events
.90
CREB phosphorylation through the activation of Ras
.78
CREB phosphorylation through the activation of CaMKII
.01
Ras activation uopn Ca2+ infux through NMDA receptor
.01
Unblocking of NMDA receptor, glutamate binding and activation
.01
3 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Huntington's disease
.43
Alzheimer's disease
.43
Alzheimers Disease
.31
4 Circadian entrainment
Circadian entrainment
.38
Glutamatergic synapse
.38
Synaptic Neurotransmission Pathways: Glutamatergic Excitation
.01
5 Long-term potentiation
Long-term potentiation
.38
Common Pathways Underlying Drug Addiction
.38
Dopamine D1-Like Receptor Family Signaling Pathways
.31
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Orphenadrine Approved Pharma Target, antagonist 9
D-serine Approved, Experimental, Investigational Pharma Agonist, Target, modulator 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

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

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

(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

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Transcripts for GRIN1 Gene

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mRNA/cDNA for GRIN1 Gene

(9) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(95) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GRIN1 Gene

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

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

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GRIN1 Gene

mRNA expression in normal human tissues for GRIN1 Gene
mRNA expression by GTEx for GRIN1 GenemRNA expression by BioGPS 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

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 33 34
  • 93.37 (n)
dog
(Canis familiaris)
 Mammalia GRIN1 33 34
  • 92.23 (n)
mouse
(Mus musculus)
 Mammalia Grin1 33 16 34
  • 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 33 34
  • 83.56 (n)
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 33 34
  • 78.33 (n)
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 35 33 34
  • 60.38 (n)
worm
(Caenorhabditis elegans)
 Secernentea nmr-1 35 33 34
  • 44.42 (n)
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)

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

Products:

  1. SNP Genotyping and Copy Number Assay

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

(20) MalaCards diseases for GRIN1 Gene - From: HGMD, OMIM, ClinVar, GTR, 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, 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

Products for GRIN1 Gene

Sources for GRIN1 Gene